### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDE6A)
# 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}}"
"PDE6A"	"phosphodiesterase 6A, cGMP-specific, rod, alpha"	"5"	"q31.2-q34"	"unknown"	"NG_009102.1"	"UD_132119092047"	""	"https://www.LOVD.nl/PDE6A"	""	"1"	"8785"	"5145"	"180071"	"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 supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/PDE6A_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-06 00:00:00"	"00006"	"2017-02-04 22:18:06"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00015883"	"PDE6A"	"phosphodiesterase 6A, cGMP-specific, rod, alpha"	"001"	"NM_000440.2"	""	"NP_000431.2"	""	""	""	"-120"	"5522"	"2583"	"149324356"	"149237519"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00027"	"CILD14"	"dyskinesia, ciliary, primary, type 14 (CILD-14)"	""	"613807"	""	""	""	"00008"	"2012-08-20 12:24:19"	"00006"	"2021-12-10 21:51:32"
"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"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"02156"	"-"	"retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness"	""	"300455"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03442"	"RP43"	"retinitis pigmentosa, type 43 (RP43)"	""	"613810"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-04-09 15:05:56"
"04211"	"RPar"	"retinitis pigmentosa, autosomal recessive (RPar)"	""	""	""	""	""	"00006"	"2015-02-27 18:58:57"	""	""
"04213"	"COD"	"dystrophy, cone (COD)"	""	""	""	""	""	"00006"	"2015-02-27 19:22:18"	""	""
"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}}"
"PDE6A"	"03442"


## Individuals ## Do not remove or alter this header ##
## Count = 379
"{{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}}"
"00000154"	""	""	""	"42"	""	"00014"	"{PMID:Hollegaard 2013:22837141}"	"association study, analysis 158 controls"	""	""	"Denmark"	""	"0"	""	""	""	"controls"
"00000223"	""	""	""	"1"	""	"00041"	"{PMID:Antony 2013:23255504}"	""	""	""	"United States"	""	"0"	""	""	""	"UNC64"
"00001793"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00016423"	""	""	""	"1"	""	"00696"	""	""	"F"	"yes"	"Libya"	""	"0"	""	""	""	""
"00095926"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61019"
"00095928"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61021"
"00095959"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61140"
"00100082"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61124"
"00100085"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61133"
"00144272"	""	""	""	"1"	""	"01780"	"{PMID:Xu 2014:24938718}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00155517"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Yemenite;Jewish"	""
"00155518"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0271"
"00155519"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Ethiopia;Jewish"	""
"00155520"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00232619"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232620"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232621"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232622"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232623"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232624"	""	""	""	"18"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232625"	""	""	""	"6"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232626"	""	""	""	"8"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232627"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232628"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232629"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232630"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232631"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232632"	""	""	""	"16"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232633"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232634"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232635"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232636"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232637"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233681"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233682"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00240450"	""	""	""	"1"	""	"03335"	""	""	"M"	""	"Mexico"	""	"0"	""	""	""	""
"00293790"	""	""	""	"198"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293791"	""	""	""	"12"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293793"	""	""	""	"12"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00299641"	""	""	""	"1"	""	"00006"	"{PMID:Arno 2017:28132693}"	"2-generation family, 1 affeted"	"M"	""	""	""	"0"	""	""	""	"FamGC3626Pat2"
"00305020"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308529"	""	""	""	"2"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"2 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308530"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308531"	""	""	""	"3"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"3 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308618"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00308652"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00308653"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00309283"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309284"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309286"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309287"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309288"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309289"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309290"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309291"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309821"	""	""	""	"2"	""	"00006"	"{PMID:Bocquet 2013:24339724}"	"2-generation family, 2 affected sisters"	"F"	"yes"	"France"	""	"0"	""	""	""	"RP1361"
"00324526"	""	""	""	"1"	""	"03960"	"{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}"	"2-generation family, 1 affected, unaffected parents"	"M"	"no"	"Japan"	">20y"	"0"	""	""	""	"patient"
"00325496"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"3635"
"00325513"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"EC10"
"00327908"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240003"
"00327920"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240032"
"00328058"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G002576"
"00328256"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G009826"
"00332205"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB28"
"00333458"	""	""	""	"1"	""	"00000"	"{PMID:Soens 2017:28714225}"	"possible duplicate"	""	""	""	""	"0"	""	""	""	"3674"
"00334884"	""	""	""	"1"	""	"00000"	"{PMID:Li 2017:28418496}"	""	""	""	"Pakistan"	""	"0"	""	""	""	"61074"
"00335228"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/15"
"00335229"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/17"
"00335236"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/28"
"00358976"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case27419"
"00359216"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13002513"
"00362172"	""	""	""	"1"	""	"00000"	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2066"
"00362188"	""	""	""	"1"	""	"00000"	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0372"
"00363513"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:26496393}"	"family"	"F"	""	"China"	""	"0"	""	""	"Han"	"RP352"
"00372658"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP238"
"00372664"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP307"
"00372667"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP022"
"00372670"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP201"
"00372672"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP398"
"00372694"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP301"
"00372704"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP040"
"00372731"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP402"
"00373351"	""	""	""	"3"	""	"00006"	"{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}"	"4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamMA132"
"00373416"	""	""	""	"5"	""	"00000"	"{PMID:Maria 2015:25775262}"	"family"	""	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam12"
"00373935"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-529-1084"
"00374908"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"W139-1"
"00375429"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#023"
"00376771"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"35"
"00376796"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"63"
"00377818"	""	""	""	"1"	""	"00000"	"{PMID:Avila Fernandez 2010:21151602}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00377819"	""	""	""	"1"	""	"00000"	"{PMID:Avila Fernandez 2010:21151602}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00377840"	""	""	""	"1"	""	"00000"	"{PMID:Avila Fernandez 2010:21151602}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00377937"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"F"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377938"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00379386"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00379387"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00379399"	""	""	""	"1"	""	"00000"	"{PMID:Simpson-2011:21147909}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00379851"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016082407"
"00379852"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016101706"
"00379853"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"F"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016101710"
"00380150"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GS_0190"
"00380191"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2018:30337596}"	"Family RP182, II:1"	"?"	"no"	"Spain"	""	"0"	""	""	""	"II:1"
"00380309"	""	""	""	"2"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00380369"	""	""	""	"1"	""	"00000"	"{PMID:Khan-2013:23134348}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	""
"00380374"	""	""	""	"1"	""	"00000"	"{PMID:Bocquet-2013:23350551}"	""	""	"yes"	"France"	""	"0"	""	""	""	""
"00381214"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381225"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel missense mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381617"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00381655"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381685"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381884"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"34"
"00382318"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"147"
"00382333"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"162"
"00382334"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"163"
"00382335"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"164"
"00382336"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"165"
"00382337"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"166"
"00382338"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"167"
"00382339"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"168"
"00382572"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"434"
"00383057"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383059"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383060"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383062"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383064"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383065"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383067"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383068"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383073"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383075"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383077"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383078"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383080"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383082"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383084"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383088"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383092"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383094"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383097"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383101"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383102"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383498"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00383499"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00383745"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD17021576_A"
"00383752"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD17070775_A"
"00383760"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18070018_A"
"00383770"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18070902_A"
"00383784"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18083946_A"
"00383785"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18083947_A"
"00383809"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18184146_B"
"00383915"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0310"
"00383949"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0881"
"00383960"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1028"
"00383992"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1441"
"00384020"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1699"
"00384021"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1700"
"00384086"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2178"
"00384100"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2298"
"00384108"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2355"
"00384156"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2755"
"00385402"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31872526}"	""	"F"	""	"Taiwan"	""	"0"	""	""	""	"F13-II-2"
"00386193"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-147, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-309"
"00386273"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-58, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-148"
"00386599"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"039-473"
"00386611"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-036"
"00386638"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-168"
"00386664"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-412"
"00386754"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2902_004487"
"00387063"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"89"
"00387064"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"90"
"00387065"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"91"
"00388854"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 60, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"138"
"00388855"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 60, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"139"
"00389104"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 128, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"388"
"00389325"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 219, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"609"
"00389515"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 316, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"799"
"00389523"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 322, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"807"
"00389743"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 552, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1027"
"00389835"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 764, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1119"
"00389879"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 828, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1163"
"00389880"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 829, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1164"
"00389924"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 928, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1208"
"00389925"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 929, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1209"
"00389944"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 973, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1228"
"00389985"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1080, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1269"
"00389988"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1089, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1272"
"00390331"	""	""	""	"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"	""	""	""	"G002576"
"00390332"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G009826"
"00390759"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390775"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390787"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00391562"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"59"
"00391563"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"Asian"	"60"
"00392599"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"58"
"00393450"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393499"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393500"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393623"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394324"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP6"
"00394325"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP7"
"00394612"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394613"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394614"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394615"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394616"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00396521"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00398874"	""	""	""	"1"	""	"00000"	"{PMID:Tsang 2008:18723146}"	""	"M"	""	""	""	"0"	""	""	""	"II-4"
"00398875"	""	""	""	"1"	""	"00000"	"{PMID:Tsang 2008:18723146}"	""	"M"	""	""	""	"0"	""	""	""	"II-5"
"00398876"	""	""	""	"1"	""	"00000"	"{PMID:Tsang 2008:18723146}"	""	"M"	""	""	""	"0"	""	"1 gram daily of oral acetazolamide for three months with improvement of VA to 20/25"	""	"II-8"
"00398966"	""	""	""	"1"	""	"00000"	"{PMID:Kuniyoshi 2015:25827439}"	""	"F"	""	""	""	"0"	""	""	""	"kinki-1016"
"00398967"	""	""	""	"1"	""	"00000"	"{PMID:Kuniyoshi 2015:25827439}"	""	"M"	""	""	""	"0"	""	""	""	"kinki-1030"
"00399158"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F339"	""	""	""	""	"0"	""	""	""	"CIC004 96"
"00399159"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F383"	""	""	""	""	"0"	""	""	""	"CIC005 70"
"00399160"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F435"	""	""	""	""	"0"	""	""	""	"CIC006 44"
"00399161"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F1605"	""	""	""	""	"0"	""	""	""	"CIC036 50"
"00399162"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F1628, index"	""	""	""	""	"0"	""	""	""	"CIC036 80"
"00399163"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F1628, sister"	"F"	""	""	""	"0"	""	""	""	"CIC110 66"
"00399164"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F2187"	""	""	""	""	"0"	""	""	""	"CIC044 95"
"00399165"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F2276"	""	""	""	""	"0"	""	""	""	"CIC046 17"
"00399166"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F2374"	""	""	""	""	"0"	""	""	""	"CIC047 74"
"00399167"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F2379"	""	""	""	""	"0"	""	""	""	"CIC047 78"
"00399168"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F2800, index"	""	""	""	""	"0"	""	""	""	"CIC054 88"
"00399169"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F2800, brother"	"M"	""	""	""	"0"	""	""	""	"CIC110 40"
"00399170"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3051"	""	""	""	""	"0"	""	""	""	"CIC058 39"
"00399171"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3678"	""	""	""	""	"0"	""	""	""	"CIC067 62"
"00399172"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3808"	""	""	""	""	"0"	""	""	""	"CIC069 49"
"00399173"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3944"	""	""	""	""	"0"	""	""	""	"CIC071 71"
"00399174"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3959, index"	""	""	""	""	"0"	""	""	""	"CIC078 81"
"00399175"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3959, brother"	"M"	""	""	""	"0"	""	""	""	"CIC073 28"
"00399176"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3959, index"	""	""	""	""	"0"	""	""	""	"CIC078 81"
"00399177"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3959, brother"	"M"	""	""	""	"0"	""	""	""	"CIC073 28"
"00399178"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F3959, brother"	"M"	""	""	""	"0"	""	""	""	"CIC071 95"
"00399179"	""	""	""	"1"	""	"00000"	"{PMID:Khateb 2019:30998820}"	"Family F5017"	""	""	""	""	"0"	""	""	""	"CIC088 20"
"00403260"	""	""	""	"1"	""	"00000"	"{PMID:Men-2017:29062221}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"Patient 1"
"00403261"	""	""	""	"1"	""	"00000"	"{PMID:Men-2017:29062221}"	""	"M"	"no"	"(United States)"	""	"0"	""	""	""	"Patient 2"
"00408059"	""	""	""	"1"	""	"00000"	"{PMID:Chebil 2016:26868535}"	"2 patients, 1 family"	"?"	""	"France"	""	"0"	""	""	"Tunisia"	"Family ?"
"00410058"	""	""	""	"1"	""	"00000"	"{PMID:Dryja 1999:10393062}"	"family 5965"	"M"	""	""	""	"0"	""	""	""	"003-040 (II:4)"
"00410059"	""	""	""	"1"	""	"00000"	"{PMID:Dryja 1999:10393062}"	"family 5965"	"M"	""	""	""	"0"	""	""	""	"003-040 (II:1)"
"00410060"	""	""	""	"1"	""	"00000"	"{PMID:Dryja 1999:10393062}"	"family 6201"	"M"	"yes"	""	""	"0"	""	""	""	"003-080"
"00410061"	""	""	""	"1"	""	"00000"	"{PMID:Dryja 1999:10393062}"	"family 6736"	"M"	"yes"	""	""	"0"	""	""	""	"003-010"
"00410062"	""	""	""	"1"	""	"00000"	"{PMID:Dryja 1999:10393062}"	"family 6877"	"F"	""	""	""	"0"	""	""	""	"003-043 (II:1)"
"00410063"	""	""	""	"1"	""	"00000"	"{PMID:Dryja 1999:10393062}"	"family 6877"	"F"	""	""	""	"0"	""	""	""	"003-043 (II:2)"
"00410064"	""	""	""	"1"	""	"00000"	"{PMID:Huang 1995:7493036}"	"family 3526"	"F"	""	"United States"	""	"0"	""	""	""	"II:5"
"00410065"	""	""	""	"1"	""	"00000"	"{PMID:Huang 1995:7493036}"	"family 3397"	"M"	""	"United States"	""	"0"	""	""	""	"II:2"
"00410066"	""	""	""	"1"	""	"00000"	"{PMID:Huang 1995:7493036}"	"family 3397"	"M"	""	"United States"	""	"0"	""	""	""	"II:4"
"00410067"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 20 of family 61019"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61019pat20"
"00410068"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 13 of family 61019"	"M"	""	"Pakistan"	""	"0"	""	""	""	"Fam61019pat13"
"00410069"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 9 of family 61019"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61019pat9"
"00410070"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 14 of family 61019"	"M"	""	"Pakistan"	""	"0"	""	""	""	"Fam61019pat14"
"00410071"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 10 of family 61074"	"M"	""	"Pakistan"	""	"0"	""	""	""	"Fam61074pat10"
"00410072"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 11 of family 61074"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61074pat11"
"00410073"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 12 of family 61074"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61074pat12"
"00410074"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 13 of family 61074"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61074pat13"
"00410075"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 14 of family 61074"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61074pat14"
"00410076"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 12 of family 61021"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61021pat12"
"00410077"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 9 of family 61021"	"M"	""	"Pakistan"	""	"0"	""	""	""	"Fam61021pat9"
"00410078"	""	""	""	"1"	""	"00000"	"{PMID:Riazuddin 2006:17110911}"	"individual 15 of family 61021"	"F"	""	"Pakistan"	""	"0"	""	""	""	"Fam61021pat15"
"00410079"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP133"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP133pat21 (VI:5)"
"00410080"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP133"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP133pat27 (VI:7)"
"00410081"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP133"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP133pat31 (VII:9)"
"00410082"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP133"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP133pat29 (VII:10)"
"00410083"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP133"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP133pat30 (VII:11)"
"00410084"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat14 (IV:2)"
"00410085"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat18 (IV:3)"
"00410086"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat19 (IV:4)"
"00410087"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat20 (IV:5)"
"00410088"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat21 (III:4)"
"00410089"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat9 (V:1)"
"00410090"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat10 (V:2)"
"00410091"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat11 (V:3)"
"00410092"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat12 (V:4)"
"00410093"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26321862}"	"family PKRP140"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"famPKRP140pat15 (V:5)"
"00410095"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"M"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"I:1"
"00410096"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"F"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:1"
"00410097"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"M"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:2"
"00410098"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"F"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:3"
"00410099"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"F"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:4"
"00410100"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"F"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:5"
"00410101"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"F"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:6"
"00410102"	""	""	""	"1"	""	"00000"	"{PMID:Kjellstrom 2016:27820873}"	""	"F"	"yes"	"Sweden"	""	"0"	""	""	"Iraqi"	"II:7"
"00410103"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2018:29693493}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00410104"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2019:30685614}"	"establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient"	"M"	""	""	""	"0"	""	""	""	"?"
"00410107"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"34"
"00410108"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"50"
"00410109"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"110"
"00410110"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"102"
"00410111"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"49"
"00410112"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"101"
"00410113"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"36"
"00410114"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"104"
"00410115"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"111"
"00410116"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"48"
"00410117"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"23"
"00410118"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"6"
"00410119"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"3"
"00410120"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"17"
"00410121"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"8"
"00410122"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"105"
"00410123"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"47"
"00410124"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"29"
"00410125"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"46"
"00410126"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"109"
"00410127"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"14"
"00410128"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"15"
"00410129"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"21"
"00410130"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"12"
"00410131"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"16"
"00410132"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"30"
"00410133"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"26"
"00410134"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"27"
"00410135"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"41"
"00410136"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"33"
"00410137"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"42"
"00410138"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"5"
"00410139"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"19"
"00410140"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"4"
"00410141"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"45"
"00410142"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"1"
"00410143"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"39"
"00410144"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"20"
"00410145"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"108"
"00410146"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"28"
"00410147"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"7"
"00410148"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"103"
"00410149"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"31"
"00410150"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"2"
"00410151"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"107"
"00410152"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"106"
"00410153"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"24"
"00410154"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"44"
"00410155"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"11"
"00410156"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"22"
"00410157"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"25"
"00410158"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"10"
"00410159"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"32"
"00410160"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"35"
"00410161"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"40"
"00410162"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"18"
"00410163"	""	""	""	"1"	""	"00000"	"{PMID:Kuehlewein 2020:33057649}"	""	""	""	"Germany"	""	"0"	""	""	""	"38"
"00410334"	""	""	""	"2"	""	"04178"	"{PMID:Li 2022:35033039}, {DOI:Li 2022:10.1186/s12886-021-02242-5}"	""	"M"	"?"	"China"	""	"0"	""	""	""	"P01"
"00411352"	""	""	""	"1"	""	"04333"	"{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}"	"family, 1 affected"	"F"	"yes"	"Israel"	""	"0"	""	""	"Ethiopia;Jew"	"Fam20"
"00426924"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 28, individual 33"	"M"	""	""	""	"0"	""	""	""	"28_33"
"00429485"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429499"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429504"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429508"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429534"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429535"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429552"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429660"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429718"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429743"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429747"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429763"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429789"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429816"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429829"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429866"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429900"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429954"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430057"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430077"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430084"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430099"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430131"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430137"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00436429"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"no"	"Mexico"	""	""	""	"none"	"Hispanic"	"2697188"
"00436441"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"M"	"likely"	"Mexico"	""	""	""	"none"	"Hispanic"	"4161847"
"00446981"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-410"
"00446998"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-453"
"00447006"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-465"
"00447018"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-487"
"00447293"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1185"
"00447506"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-451"
"00447529"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"CD-632"
"00447583"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-78"
"00447653"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-413"
"00458017"	""	""	""	"1"	""	"00006"	"{PMID:Peng 2017:29040572}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Pat11"
"00461095"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"F"	""	"South Africa"	""	"0"	""	""	"white"	"Pat30"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 379
"{{individualid}}"	"{{diseaseid}}"
"00000154"	"00000"
"00000223"	"00027"
"00001793"	"00112"
"00016423"	"00112"
"00095926"	"04211"
"00095928"	"04211"
"00095959"	"04214"
"00100082"	"04214"
"00100085"	"04214"
"00144272"	"04214"
"00155517"	"04214"
"00155518"	"04214"
"00155519"	"04214"
"00155520"	"04214"
"00232619"	"04214"
"00232620"	"04214"
"00232621"	"04214"
"00232622"	"04214"
"00232623"	"04214"
"00232624"	"04214"
"00232625"	"04214"
"00232626"	"04214"
"00232627"	"04214"
"00232628"	"04214"
"00232629"	"04214"
"00232630"	"04214"
"00232631"	"04214"
"00232632"	"04214"
"00232633"	"04214"
"00232634"	"04214"
"00232635"	"04214"
"00232636"	"04214"
"00232637"	"04214"
"00233681"	"04214"
"00233682"	"04214"
"00240450"	"00381"
"00293790"	"00198"
"00293791"	"00198"
"00293793"	"00198"
"00299641"	"04214"
"00305020"	"00198"
"00308529"	"04214"
"00308530"	"04214"
"00308531"	"04214"
"00308618"	"04214"
"00308652"	"04214"
"00308653"	"04214"
"00309283"	"04214"
"00309284"	"04214"
"00309286"	"04214"
"00309287"	"04214"
"00309288"	"04214"
"00309289"	"04214"
"00309290"	"04214"
"00309291"	"04214"
"00309821"	"04214"
"00324526"	"04213"
"00325496"	"04214"
"00325513"	"04214"
"00327908"	"04214"
"00327920"	"04214"
"00328058"	"04214"
"00328256"	"04214"
"00332205"	"04214"
"00333458"	"04214"
"00334884"	"04214"
"00335228"	"04214"
"00335229"	"04214"
"00335236"	"04214"
"00358976"	"04214"
"00359216"	"04214"
"00362172"	"04214"
"00362188"	"04214"
"00363513"	"04214"
"00372658"	"04214"
"00372664"	"04214"
"00372667"	"04214"
"00372670"	"04214"
"00372672"	"04214"
"00372694"	"04214"
"00372704"	"04214"
"00372731"	"04214"
"00373351"	"04214"
"00373416"	"04214"
"00373935"	"04214"
"00374908"	"04214"
"00375429"	"04214"
"00376771"	"04214"
"00376796"	"04214"
"00377818"	"04214"
"00377819"	"04214"
"00377840"	"04214"
"00377937"	"04214"
"00377938"	"04214"
"00379386"	"04214"
"00379387"	"04214"
"00379399"	"04214"
"00379851"	"04214"
"00379852"	"04214"
"00379853"	"04214"
"00380150"	"00112"
"00380191"	"04214"
"00380309"	"04214"
"00380369"	"04214"
"00380374"	"04214"
"00381214"	"04214"
"00381225"	"04214"
"00381617"	"04214"
"00381655"	"04214"
"00381685"	"04214"
"00381884"	"04214"
"00382318"	"04214"
"00382333"	"04214"
"00382334"	"04214"
"00382335"	"04214"
"00382336"	"04214"
"00382337"	"04214"
"00382338"	"04214"
"00382339"	"04214"
"00382572"	"04214"
"00383057"	"04214"
"00383059"	"04214"
"00383060"	"04214"
"00383062"	"04214"
"00383064"	"04214"
"00383065"	"04214"
"00383067"	"04214"
"00383068"	"04214"
"00383073"	"04214"
"00383075"	"04214"
"00383077"	"04214"
"00383078"	"04214"
"00383080"	"04214"
"00383082"	"04214"
"00383084"	"04214"
"00383088"	"04214"
"00383092"	"04214"
"00383094"	"04214"
"00383097"	"04214"
"00383101"	"04214"
"00383102"	"04214"
"00383498"	"04214"
"00383499"	"04214"
"00383745"	"04214"
"00383752"	"04214"
"00383760"	"04214"
"00383770"	"04214"
"00383784"	"04214"
"00383785"	"04214"
"00383809"	"04214"
"00383915"	"04214"
"00383949"	"04214"
"00383960"	"04214"
"00383992"	"04214"
"00384020"	"04214"
"00384021"	"04214"
"00384086"	"04214"
"00384100"	"04214"
"00384108"	"04214"
"00384156"	"04214"
"00385402"	"04214"
"00386193"	"04214"
"00386273"	"04214"
"00386599"	"04214"
"00386611"	"04214"
"00386638"	"04214"
"00386664"	"04214"
"00386754"	"04214"
"00387063"	"04214"
"00387064"	"04214"
"00387065"	"04214"
"00388854"	"04214"
"00388855"	"04214"
"00389104"	"04214"
"00389325"	"04214"
"00389515"	"04214"
"00389523"	"04214"
"00389743"	"04214"
"00389835"	"04214"
"00389879"	"04214"
"00389880"	"04214"
"00389924"	"04214"
"00389925"	"04214"
"00389944"	"04214"
"00389985"	"04214"
"00389988"	"04214"
"00390331"	"04214"
"00390332"	"04214"
"00390759"	"04214"
"00390775"	"04214"
"00390787"	"04214"
"00391562"	"04214"
"00391563"	"04214"
"00392599"	"04214"
"00393450"	"04214"
"00393499"	"04214"
"00393500"	"04214"
"00393623"	"04214"
"00394324"	"04214"
"00394325"	"04214"
"00394612"	"04214"
"00394613"	"04214"
"00394614"	"04214"
"00394615"	"04214"
"00394616"	"04214"
"00396521"	"04214"
"00398874"	"04214"
"00398875"	"04214"
"00398876"	"04214"
"00398966"	"04214"
"00398967"	"04214"
"00399158"	"04214"
"00399159"	"04214"
"00399160"	"04214"
"00399161"	"04214"
"00399162"	"04214"
"00399163"	"04214"
"00399164"	"04214"
"00399165"	"04214"
"00399166"	"04214"
"00399167"	"04214"
"00399168"	"04214"
"00399169"	"04214"
"00399170"	"04214"
"00399171"	"04214"
"00399172"	"04214"
"00399173"	"04214"
"00399174"	"04214"
"00399175"	"04214"
"00399176"	"04214"
"00399177"	"04214"
"00399178"	"04214"
"00399179"	"04214"
"00403260"	"04214"
"00403261"	"04214"
"00408059"	"04214"
"00410058"	"04214"
"00410059"	"04214"
"00410060"	"04214"
"00410061"	"04214"
"00410062"	"04214"
"00410063"	"04214"
"00410064"	"04214"
"00410065"	"04214"
"00410066"	"04214"
"00410067"	"04214"
"00410068"	"04214"
"00410069"	"04214"
"00410070"	"04214"
"00410071"	"04214"
"00410072"	"04214"
"00410073"	"04214"
"00410074"	"04214"
"00410075"	"04214"
"00410076"	"04214"
"00410077"	"04214"
"00410078"	"04214"
"00410079"	"04214"
"00410080"	"04214"
"00410081"	"04214"
"00410082"	"04214"
"00410083"	"04214"
"00410084"	"04214"
"00410085"	"04214"
"00410086"	"04214"
"00410087"	"04214"
"00410088"	"04214"
"00410089"	"04214"
"00410090"	"04214"
"00410091"	"04214"
"00410092"	"04214"
"00410093"	"04214"
"00410095"	"04214"
"00410096"	"04214"
"00410097"	"04214"
"00410098"	"04214"
"00410099"	"04214"
"00410100"	"04214"
"00410101"	"04214"
"00410102"	"04214"
"00410103"	"04214"
"00410104"	"04214"
"00410107"	"04214"
"00410108"	"04214"
"00410109"	"04214"
"00410110"	"04214"
"00410111"	"04214"
"00410112"	"04214"
"00410113"	"04214"
"00410114"	"04214"
"00410115"	"04214"
"00410116"	"04214"
"00410117"	"04214"
"00410118"	"04214"
"00410119"	"04214"
"00410120"	"04214"
"00410121"	"04214"
"00410122"	"04214"
"00410123"	"04214"
"00410124"	"04214"
"00410125"	"04214"
"00410126"	"04214"
"00410127"	"04214"
"00410128"	"04214"
"00410129"	"04214"
"00410130"	"04214"
"00410131"	"04214"
"00410132"	"04214"
"00410133"	"04214"
"00410134"	"04214"
"00410135"	"04214"
"00410136"	"04214"
"00410137"	"04214"
"00410138"	"04214"
"00410139"	"04214"
"00410140"	"04214"
"00410141"	"04214"
"00410142"	"04214"
"00410143"	"04214"
"00410144"	"04214"
"00410145"	"04214"
"00410146"	"04214"
"00410147"	"04214"
"00410148"	"04214"
"00410149"	"04214"
"00410150"	"04214"
"00410151"	"04214"
"00410152"	"04214"
"00410153"	"04214"
"00410154"	"04214"
"00410155"	"04214"
"00410156"	"04214"
"00410157"	"04214"
"00410158"	"04214"
"00410159"	"04214"
"00410160"	"04214"
"00410161"	"04214"
"00410162"	"04214"
"00410163"	"04214"
"00410334"	"00112"
"00411352"	"03442"
"00426924"	"04214"
"00429485"	"00112"
"00429499"	"00112"
"00429504"	"00112"
"00429508"	"00112"
"00429534"	"00112"
"00429535"	"00112"
"00429552"	"00112"
"00429660"	"00112"
"00429718"	"00112"
"00429743"	"00112"
"00429747"	"00112"
"00429763"	"00112"
"00429789"	"00112"
"00429816"	"00112"
"00429829"	"00112"
"00429866"	"00112"
"00429900"	"00112"
"00429954"	"00112"
"00430057"	"00112"
"00430077"	"00112"
"00430084"	"00112"
"00430099"	"00112"
"00430131"	"00112"
"00430137"	"00112"
"00436429"	"02156"
"00436441"	"03442"
"00446981"	"00198"
"00446998"	"00198"
"00447006"	"00198"
"00447018"	"00198"
"00447293"	"00198"
"00447506"	"00198"
"00447529"	"00198"
"00447583"	"00198"
"00447653"	"00198"
"00458017"	"00198"
"00461095"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00027, 00112, 00198, 00381, 02156, 03442, 04211, 04213, 04214
## Count = 349
"{{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}}"
"0000015025"	"00112"	"00016423"	"00696"	"Familial, autosomal recessive"	""	"ataxia, retinal dystrophy, neuropathy"	""	""	""	""	""	""	""	""	""	""	""
"0000074215"	"04211"	"00095926"	"01769"	"Familial, autosomal recessive"	""	"Progressive RP"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000074217"	"04211"	"00095928"	"01769"	"Familial, autosomal recessive"	""	"Progressive RP"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000074238"	"04214"	"00095959"	"01769"	"Familial, autosomal recessive"	""	"Progressive RP"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000078322"	"04214"	"00100082"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000078325"	"04214"	"00100085"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000117050"	"04214"	"00144272"	"01780"	"Isolated (sporadic)"	""	"Age examination 43: first symptom: poor vision, visual acuity OD/OS: 0,8/0,7, fundus exam.: attenuated retinal arteries, pigment deposit"	"43y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128017"	"04214"	"00155517"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128018"	"04214"	"00155518"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128019"	"04214"	"00155519"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128020"	"04214"	"00155520"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000226951"	"04214"	"00299641"	"00006"	"Familial, autosomal recessive"	"51y"	"see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90"	"29y"	""	""	""	""	""	""	""	"RP78"	"retinitis pigmentosa"	""
"0000233957"	"04214"	"00308529"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233958"	"04214"	"00308530"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233959"	"04214"	"00308531"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234046"	"04214"	"00308618"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234080"	"04214"	"00308652"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234081"	"04214"	"00308653"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234603"	"04214"	"00309283"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234604"	"04214"	"00309284"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234606"	"04214"	"00309286"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234607"	"04214"	"00309287"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234608"	"04214"	"00309288"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234609"	"04214"	"00309289"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234610"	"04214"	"00309290"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234611"	"04214"	"00309291"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235135"	"04214"	"00309821"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000243071"	"04213"	"00324526"	"03960"	"Familial, autosomal recessive"	""	"see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)"	"06y"	"20y"	"photophobia, reduiced visual acuity"	""	""	""	""	""	""	"cone dystrophy"	""
"0000243983"	"04214"	"00325496"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000244000"	"04214"	"00325513"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246135"	"04214"	"00327908"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246147"	"04214"	"00327920"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246285"	"04214"	"00328058"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246483"	"04214"	"00328256"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250392"	"04214"	"00332205"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (early-onset retinal degeneration)"	""
"0000251643"	"04214"	"00333458"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252670"	"04214"	"00334884"	"00000"	"Familial, autosomal recessive"	""	"progressive"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252943"	"04214"	"00335228"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252944"	"04214"	"00335229"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252951"	"04214"	"00335236"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254274"	"04214"	"00358976"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000254513"	"04214"	"00359216"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000257586"	"04214"	"00362172"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000257602"	"04214"	"00362188"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258863"	"04214"	"00363513"	"00000"	"Familial, autosomal recessive"	"42y"	"childhood onset; visual acuity R 0.05, L 0.05; bilateral retinal vascular attenuation, bone spicule like pigmentation in the mid-periphery retina, RPE degeneration, pale optic disc"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267937"	"04214"	"00372658"	"00000"	"Familial, autosomal recessive"	"37y"	"see paper; ..."	"31y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267943"	"04214"	"00372664"	"00000"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267946"	"04214"	"00372667"	"00000"	"Familial, autosomal recessive"	"38y"	"see paper; ..."	"7y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267949"	"04214"	"00372670"	"00000"	"Familial, autosomal recessive"	"29y"	"see paper; ..."	"15y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267951"	"04214"	"00372672"	"00000"	"Familial, autosomal recessive"	"23y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267973"	"04214"	"00372694"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267983"	"04214"	"00372704"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268010"	"04214"	"00372731"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268627"	"04214"	"00373351"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000268692"	"04214"	"00373416"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269144"	"04214"	"00373935"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270118"	"04214"	"00374908"	"00000"	"Familial, autosomal recessive"	"32y"	"best corrected visual acuity 0.4/0.5"	"15y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270643"	"04214"	"00375429"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271982"	"04214"	"00376771"	"00000"	"Familial, autosomal dominant"	"64y"	""	""	""	""	""	""	""	""	""	""	"Progressive pigmentary retinopathy"	""
"0000272007"	"04214"	"00376796"	"00000"	"Unknown"	"67y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272964"	"04214"	"00377818"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Juvenile Retinitis pigmentaria"	""
"0000272965"	"04214"	"00377819"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Juvenile Retinitis pigmentaria"	""
"0000272986"	"04214"	"00377840"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Typical Retinitis pigmentaria"	""
"0000273083"	"04214"	"00377937"	"00000"	"Familial, autosomal recessive"	"39y"	""	"15y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273084"	"04214"	"00377938"	"00000"	"Familial, autosomal recessive"	"33y"	""	"12y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273259"	"04214"	"00379386"	"00000"	"Unknown"	"57y"	""	"20y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273260"	"04214"	"00379387"	"00000"	"Unknown"	"27y"	""	"24y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273272"	"04214"	"00379399"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273705"	"04214"	"00379851"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa?"	""
"0000273706"	"04214"	"00379852"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273707"	"04214"	"00379853"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274005"	"00112"	"00380150"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274046"	"04214"	"00380191"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000274160"	"04214"	"00380309"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy (CD)"	""
"0000274220"	"04214"	"00380369"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000274225"	"04214"	"00380374"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000275065"	"04214"	"00381214"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"juvenile retinitis pigmentosa"	""
"0000275076"	"04214"	"00381225"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"juvenile retinitis pigmentosa"	""
"0000275459"	"04214"	"00381617"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275497"	"04214"	"00381655"	"00000"	"Familial, autosomal dominant"	""	""	"59y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275527"	"04214"	"00381685"	"00000"	"Isolated (sporadic)"	""	""	"47y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275726"	"04214"	"00381884"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276167"	"04214"	"00382318"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276182"	"04214"	"00382333"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276183"	"04214"	"00382334"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276184"	"04214"	"00382335"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276185"	"04214"	"00382336"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276186"	"04214"	"00382337"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276187"	"04214"	"00382338"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276188"	"04214"	"00382339"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276421"	"04214"	"00382572"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276847"	"04214"	"00383057"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276849"	"04214"	"00383059"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276850"	"04214"	"00383060"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276852"	"04214"	"00383062"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276854"	"04214"	"00383064"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276855"	"04214"	"00383065"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276857"	"04214"	"00383067"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276858"	"04214"	"00383068"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276863"	"04214"	"00383073"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276865"	"04214"	"00383075"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276867"	"04214"	"00383077"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276868"	"04214"	"00383078"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276870"	"04214"	"00383080"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276872"	"04214"	"00383082"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276874"	"04214"	"00383084"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276878"	"04214"	"00383088"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276882"	"04214"	"00383092"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276884"	"04214"	"00383094"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276887"	"04214"	"00383097"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276891"	"04214"	"00383101"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276892"	"04214"	"00383102"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000277283"	"04214"	"00383498"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277284"	"04214"	"00383499"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277530"	"04214"	"00383745"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277537"	"04214"	"00383752"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277545"	"04214"	"00383760"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277555"	"04214"	"00383770"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277569"	"04214"	"00383784"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277570"	"04214"	"00383785"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277594"	"04214"	"00383809"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277700"	"04214"	"00383915"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277734"	"04214"	"00383949"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277745"	"04214"	"00383960"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277777"	"04214"	"00383992"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277805"	"04214"	"00384020"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277806"	"04214"	"00384021"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277871"	"04214"	"00384086"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277885"	"04214"	"00384100"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277893"	"04214"	"00384108"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277941"	"04214"	"00384156"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000279198"	"04214"	"00385402"	"00000"	"Isolated (sporadic)"	"48y"	"48"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279996"	"04214"	"00386193"	"00000"	"Familial, autosomal dominant"	"18y"	""	""	"16y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280076"	"04214"	"00386273"	"00000"	"Familial, autosomal recessive"	"64y"	""	""	"25y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280399"	"04214"	"00386599"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280411"	"04214"	"00386611"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280438"	"04214"	"00386638"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280464"	"04214"	"00386664"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280554"	"04214"	"00386754"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280841"	"04214"	"00387063"	"00000"	"Familial, autosomal recessive"	"45y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280842"	"04214"	"00387064"	"00000"	"Familial, autosomal recessive"	"14y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280843"	"04214"	"00387065"	"00000"	"Familial, autosomal recessive"	"32y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000282395"	"04214"	"00388854"	"00000"	"Familial, autosomal recessive"	"50y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282396"	"04214"	"00388855"	"00000"	"Familial, autosomal recessive"	"51y"	"age at genetic diagnosis mentioned"	""	"42y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282645"	"04214"	"00389104"	"00000"	"Familial, autosomal recessive"	"27y"	"age at genetic diagnosis mentioned"	""	"19y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282866"	"04214"	"00389325"	"00000"	"Familial, autosomal recessive"	"56y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283056"	"04214"	"00389515"	"00000"	"Familial, autosomal recessive"	"40y"	"age at genetic diagnosis mentioned"	""	"40y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283064"	"04214"	"00389523"	"00000"	"Familial, autosomal recessive"	"46y"	"age at genetic diagnosis mentioned"	""	"46y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283284"	"04214"	"00389743"	"00000"	"Isolated (sporadic)"	"53y"	"age at genetic diagnosis mentioned"	""	"44y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283376"	"04214"	"00389835"	"00000"	"Isolated (sporadic)"	"68y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283420"	"04214"	"00389879"	"00000"	"Isolated (sporadic)"	"64y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283421"	"04214"	"00389880"	"00000"	"Isolated (sporadic)"	"64y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283465"	"04214"	"00389924"	"00000"	"Isolated (sporadic)"	"45y"	"age at genetic diagnosis mentioned"	""	"42y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283466"	"04214"	"00389925"	"00000"	"Isolated (sporadic)"	"58y"	"age at genetic diagnosis mentioned"	""	"55y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283485"	"04214"	"00389944"	"00000"	"Isolated (sporadic)"	"43y"	"age at genetic diagnosis mentioned"	""	"40y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283526"	"04214"	"00389985"	"00000"	"Isolated (sporadic)"	"57y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283529"	"04214"	"00389988"	"00000"	"Isolated (sporadic)"	"27y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283869"	"04214"	"00390331"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283870"	"04214"	"00390332"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284247"	"04214"	"00390759"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000284263"	"04214"	"00390775"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000284275"	"04214"	"00390787"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000284898"	"04214"	"00391562"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	""
"0000284899"	"04214"	"00391563"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"EOrod-cone dystrophy"	""
"0000285846"	"04214"	"00392599"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"retinitis pigmentosa"	""
"0000286656"	"04214"	"00393450"	"00000"	"Isolated (sporadic)"	"28y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286705"	"04214"	"00393499"	"00000"	"Isolated (sporadic)"	"47y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286706"	"04214"	"00393500"	"00000"	"Isolated (sporadic)"	"34y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286829"	"04214"	"00393623"	"00000"	"Isolated (sporadic)"	"36y"	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000287528"	"04214"	"00394324"	"00000"	"Familial, autosomal recessive"	""	"Early-onset RP"	""	"22y"	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287529"	"04214"	"00394325"	"00000"	"Familial, autosomal recessive"	""	"Early-onset RP"	""	"20y"	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287815"	"04214"	"00394612"	"00000"	"Familial, autosomal recessive"	"31y"	""	"26y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287816"	"04214"	"00394613"	"00000"	"Familial, autosomal recessive"	"23y"	""	"6y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287817"	"04214"	"00394614"	"00000"	"Familial, autosomal recessive"	"51y"	""	"8y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287818"	"04214"	"00394615"	"00000"	"Familial, autosomal recessive"	"55y"	""	"10y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287819"	"04214"	"00394616"	"00000"	"Familial, autosomal recessive"	"51y"	""	"6y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289682"	"04214"	"00396521"	"00000"	"Isolated (sporadic)"	"26y"	"decreased visual acuity"	"6y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000291962"	"04214"	"00398874"	"00000"	"Familial, autosomal recessive"	"41y"	"optical coherence tomography: cystoid oedema, which was also evident on ophthalmoscopy; bilateral vitreomacular traction; extensive epiretinal membranes; no rod function and detectable cone function in the central field only; 34y best-corrected visual acuity remained 20/30, but visual fields had decreased to only a central island; best corrected visual acuity: 20/100 each eye. Cataract extraction in the right eye had improved his vision from 20/200 to 20/100; posterior intraocular lens; posterior subcapsular cataract left eye;  non-nummular intraretinal pigmentation from the arcades to the mid-peripheral retina"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000291963"	"04214"	"00398875"	"00000"	"Familial, autosomal recessive"	"38y"	"best corrected visual acuity right/left eye: 20/60 each eye; trace posterior subcapsular cataracts; extensive intraretinal pigment migrations extending from the mid-periphery equatorial region to the arcades in both eyes with extensive arterial attenuation; central sparing of the retinal pigment epithelium in both maculae; no edema; fundus autofluorescence: hyperfluorescent rings"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000291964"	"04214"	"00398876"	"00000"	"Familial, autosomal recessive"	"27y"	"best corrected visual acuity each eye: 20/50; extensive non-nummular intraretinal pigment migration from the equatorial region to the arcades in both eyes with extensive arteriolar attenuation; mild bilateral cystoid macular edema, which was confirmed by OCT. Scanning laser ophthalmoscopy fundus autofluorescence:  showed rings of high-density signal in both maculae with pigment displacement and a petalloid pattern within the larger ring"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292055"	"04214"	"00398966"	"00000"	"Familial, autosomal recessive"	"48y"	"optical coherence tomography: cystoid oedema, which was also evident on ophthalmoscopy; bilateral vitreomacular traction; extensive epiretinal membranes; no rod function and detectable cone function in the central field only; 34y best-corrected visual acuity remained 20/30, but visual fields had decreased to only a central island; best corrected visual acuity: 20/100 each eye. Cataract extraction in the right eye had improved his vision from 20/200 to 20/100; posterior intraocular lens; posterior subcapsular cataract left eye;  non-nummular intraretinal pigmentation from the arcades to the mid-peripheral retina"	""	""	"night vision problems"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292056"	"04214"	"00398967"	"00000"	"Familial, autosomal recessive"	"44y"	"night blindness from childhood; visual field disturbances in mid-thirties best-corrected visual acuity right/left eye: 0.5 with +0.75 DS and -1.25 DC ax 180deg in the right eye and 0.02 with +1.0 DS with -2.25 DC ax 10deg in the left eye; intraocular lens in both eyes; diffuse retinal degeneration with numerous bone spicule pigments in the midperiphery; retinal vessels severely attenuated; optic discs were waxy-pale in both eyes; constricted visual fields"	""	""	"night vision problems"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292246"	"04214"	"00399158"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292247"	"04214"	"00399159"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292248"	"04214"	"00399160"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292249"	"04214"	"00399161"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292250"	"04214"	"00399162"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292251"	"04214"	"00399163"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292252"	"04214"	"00399164"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292253"	"04214"	"00399165"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292254"	"04214"	"00399166"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292255"	"04214"	"00399167"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292256"	"04214"	"00399168"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292257"	"04214"	"00399169"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292258"	"04214"	"00399170"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292259"	"04214"	"00399171"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292260"	"04214"	"00399172"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292261"	"04214"	"00399173"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292262"	"04214"	"00399174"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292263"	"04214"	"00399175"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292264"	"04214"	"00399176"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292265"	"04214"	"00399177"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292266"	"04214"	"00399178"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292267"	"04214"	"00399179"	"00000"	"Familial, autosomal recessive"	""	"see paper supplemental data"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000296002"	"04214"	"00403260"	"00000"	"Familial, X-linked"	"3m"	"nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased"	""	""	""	""	""	""	""	""	"congenital stationary night blindness (CSNB2)"	"Leber congenital amaurosis (LCA)"	""
"0000296003"	"04214"	"00403261"	"00000"	"Familial, X-linked"	"5m"	"nystagmus, severe hyperopia, esotropia, and visual acuity of 20/360 oculus dexter (OD) and 20/270 oculus sinister (OS)"	""	""	""	""	""	""	""	""	"congenital stationary night blindness (CSNB2)"	"Leber congenital amaurosis (LCA)"	""
"0000300188"	"04214"	"00408059"	"00000"	"Familial, autosomal recessive"	""	"onset: 1st decade; photophobia: no; nystagmus: no; decline in visual acuity: 4th decade; myopia: no; keratoconus: no; cataract: yes; papillary pallor: severe; peripapillary atrophy: yes; white flecks: yes; pigment mottling: no; vessel attenuation: no; bone spicules: posterior pole and peripheral retina; chorioretinal atrophy: diffuse; optical coherence tomography: atrophy; visual field: not possible"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302167"	"04214"	"00410058"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302168"	"04214"	"00410059"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302169"	"04214"	"00410060"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302170"	"04214"	"00410061"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302171"	"04214"	"00410062"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302172"	"04214"	"00410063"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302173"	"04214"	"00410064"	"00000"	"Familial, autosomal recessive"	""	"fundus: waxy pale optic disc, attenuated retinal vessels, bone-spicule pigment in midperipheral retina"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302174"	"04214"	"00410065"	"00000"	"Familial, autosomal recessive"	""	"fundus: waxy pale optic disc, attenuated retinal vessels, bone-spicule pigment in midperipheral retina; electroretinography: responses markedly reduced; single flashes of blue light: undetectable"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302175"	"04214"	"00410066"	"00000"	"Familial, autosomal recessive"	""	"fundus: waxy pale optic disc, attenuated retinal vessels, bone-spicule pigment in midperipheral retina; electroretinography: responses markedly reduced; single flashes of blue light: undetectable"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302176"	"04214"	"00410067"	"00000"	"Familial, autosomal recessive"	"18y"	"fundus: waxy pale optic disc, attenuation of retinal arteries, and bone-spicule pigment deposits in the mid periphery of the retina; electroretinogram: loss of both rod and cone responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302177"	"04214"	"00410068"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302178"	"04214"	"00410069"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302179"	"04214"	"00410070"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302180"	"04214"	"00410071"	"00000"	"Familial, autosomal recessive"	"25y"	"fundus: waxy pale optic disc, attenuation of retinal arteries, and bone-spicule pigment deposits in the mid periphery of the retina; electroretinogram: loss of both rod and cone responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302181"	"04214"	"00410072"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302182"	"04214"	"00410073"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302183"	"04214"	"00410074"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302184"	"04214"	"00410075"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302185"	"04214"	"00410076"	"00000"	"Familial, autosomal recessive"	"33y"	"fundus: waxy pale optic disc, attenuation of retinal arteries, and bone-spicule pigment deposits in the mid periphery of the retina; electroretinogram: loss of both rod and cone responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302186"	"04214"	"00410077"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302187"	"04214"	"00410078"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302188"	"04214"	"00410079"	"00000"	"Familial, autosomal recessive"	""	"progressive night blindness, fundus: artery attenuation; pigment deposits, pale optic disc; electroretinogram: no \"\"a\"\" or \"\"b\"\"wave response; no flicker response; best corrected visual acuity right, left eye: counting fingers, counting"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302189"	"04214"	"00410080"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302190"	"04214"	"00410081"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302191"	"04214"	"00410082"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302192"	"04214"	"00410083"	"00000"	"Familial, autosomal recessive"	""	"progressive night blindness, fundus: artery attenuation; pigment deposits, pale optic disc; electroretinogram: no \"\"a\"\" or \"\"b\"\"wave response; no flicker response; best corrected visual acuity right, left eye: 6/50, 6/50"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302193"	"04214"	"00410084"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302194"	"04214"	"00410085"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302195"	"04214"	"00410086"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302196"	"04214"	"00410087"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302197"	"04214"	"00410088"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302198"	"04214"	"00410089"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302199"	"04214"	"00410090"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302200"	"04214"	"00410091"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302201"	"04214"	"00410092"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302202"	"04214"	"00410093"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302204"	"04214"	"00410095"	"00000"	"Familial, autosomal recessive"	"73y"	"best corrected visual acuity (2004) right, left eye: not tested; best corrected visual acuity right, left eye (2016): light perception, amaurosis; Goldmann visual field: Not tested; macular map optical coherence tomography: Not tested; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 0.5, 1; multifocal electroretinography amplitudes (uV): not tested; cGMP concentration nM: 150"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302205"	"04214"	"00410096"	"00000"	"Familial, autosomal recessive"	"46y"	"best corrected visual acuity (2004) right, left eye: not tested; best corrected visual acuity right, left eye (2016): 0.1, 0.16; Goldmann visual field: V4e < 10deg, I4e < 5deg; macular map optical coherence tomography: Central macular edema with vitreoretinal traction, otherwise attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 0.5, 2; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 170"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302206"	"04214"	"00410097"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity (2004) right, left eye: not tested; best corrected visual acuity right, left eye (2016): 0.2, 0.2; Goldmann visual field: V4e 12deg-13deg, II4e 2deg-4deg; macular map optical coherence tomography: Central macular edema with vitreoretinal traction, otherwise attenuation; rod full field electroretinography amplitudes (uV): not tested; cone full field electroretinography amplitudes (uV) right, left eye: not tested; multifocal electroretinography amplitudes (uV): not tested; cGMP concentration nM: not tested"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302207"	"04214"	"00410098"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity (2004) right, left eye: not tested; best corrected visual acuity right, left eye (2016): 0.32, 0.5; Goldmann visual field: V4e < 10deg, I4e < 5deg; macular map optical coherence tomography: General attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 4, 1.5; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 171"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302208"	"04214"	"00410099"	"00000"	"Familial, autosomal recessive"	"36y"	"best corrected visual acuity (2004) right, left eye: 0.4, 0.6; best corrected visual acuity right, left eye (2016): not tested; Goldmann visual field: right eye V4e 15deg, left eye 20deg and a temp crescent from 50deg-deg0deg, I4e 5deg; macular map optical coherence tomography: Not tested; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 1, 1; multifocal electroretinography amplitudes (uV): not tested; cGMP concentration nM: not tested"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302209"	"04214"	"00410100"	"00000"	"Familial, autosomal recessive"	"34y"	"best corrected visual acuity (2004) right, left eye: 0.8, 0.4; best corrected visual acuity right, left eye (2016): 0.3, 0.25; Goldmann visual field: right eye V4e from 15deg nas to 90deg temp but with a scotoma, I4e 5deg, left eye V4e 10deg and a temp crescent from 60deg-85deg, I4e 5deg; macular map optical coherence tomography: Central macular edema, otherwise attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 0.5, 1; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 154"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302210"	"04214"	"00410101"	"00000"	"Familial, autosomal recessive"	"34y"	"best corrected visual acuity (2004) right, left eye: 0.3, 0.04; best corrected visual acuity right, left eye (2016): 0.13, 0.1; Goldmann visual field: V4e < 10deg and a temp crescent 70deg-90deg, I4e < 5deg; macular map optical coherence tomography: General attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 1, 1; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 202"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302211"	"04214"	"00410102"	"00000"	"Familial, autosomal recessive"	"28y"	"best corrected visual acuity (2004) right, left eye: 0.9, 1.0; best corrected visual acuity right, left eye (2016): 0.25, 0.8; Goldmann visual field: V4e l5deg-20deg and a temp crescent 50deg-90deg, I4e 7deg-10deg; macular map optical coherence tomography: right eye central macular edema otherwise attenuation, left eye general attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 1, 0.5 ; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 146"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302212"	"04214"	"00410103"	"00000"	"Familial, autosomal recessive"	"10y"	"fundus: loss of pigment epithelium with narrow arterioles, pale optic disk, irregular bone-spicule pigmentation in peripheral retina; fundus fluorescein angiogram: diffuse extensive transmitted and blocked fluorescence at the early stage binocularly, and staining of optic nerve at late stage"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302213"	"04214"	"00410104"	"00000"	"Familial, autosomal recessive"	"51y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302214"	"04214"	"00410107"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: -0.1, 0; visual acuity, Snellen, right, left eye: 20/16, 20/20; visual field object III4e, square degrees right, left eye: 1520, 3249"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302215"	"04214"	"00410108"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 2; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: 3538, 3540"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302216"	"04214"	"00410109"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: 7522, 6252"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302217"	"04214"	"00410110"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: 13 123, 12 422"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302218"	"04214"	"00410111"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: 10 889, 10 754"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302219"	"04214"	"00410112"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: 12 569, 11 105"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302220"	"04214"	"00410113"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: 3914, 6895"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302221"	"04214"	"00410114"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0, 0; visual acuity, Snellen, right, left eye: 20/20, 20/20; visual field object III4e, square degrees right, left eye: NA, NA"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302222"	"04214"	"00410115"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 2; visual acuity, logMAR right, left eye: 0.1, 0; visual acuity, Snellen, right, left eye: 20/25, 20/20; visual field object III4e, square degrees right, left eye: 6074, 8234"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302223"	"04214"	"00410116"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.1, 0; visual acuity, Snellen, right, left eye: 20/25, 20/20; visual field object III4e, square degrees right, left eye: 2070, 2599"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302224"	"04214"	"00410117"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0.6, 0; visual acuity, Snellen, right, left eye: 20/80, 20/20; visual field object III4e, square degrees right, left eye: 3759, 4526"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302225"	"04214"	"00410118"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0, 0.1; visual acuity, Snellen, right, left eye: 20/20, 20/25; visual field object III4e, square degrees right, left eye: 4246, 5036"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302226"	"04214"	"00410119"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0, 0.1; visual acuity, Snellen, right, left eye: 20/20, 20/25; visual field object III4e, square degrees right, left eye: 375, 220"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302227"	"04214"	"00410120"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 2; visual acuity, logMAR right, left eye: 0.1, 0.1; visual acuity, Snellen, right, left eye: 20/25, 20/25; visual field object III4e, square degrees right, left eye: 11 132, 10 740"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302228"	"04214"	"00410121"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.1, 0.1; visual acuity, Snellen, right, left eye: 20/25, 20/25; visual field object III4e, square degrees right, left eye: 795, 777"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302229"	"04214"	"00410122"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.1, 0.1; visual acuity, Snellen, right, left eye: 20/25, 20/25; visual field object III4e, square degrees right, left eye: NA, NA"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302230"	"04214"	"00410123"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.1, 0.1; visual acuity, Snellen, right, left eye: 20/25, 20/25; visual field object III4e, square degrees right, left eye: 336, 355"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302231"	"04214"	"00410124"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.2, 0.1; visual acuity, Snellen, right, left eye: 20/30, 20/25; visual field object III4e, square degrees right, left eye: 244, 203"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302232"	"04214"	"00410125"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.2, 0.1; visual acuity, Snellen, right, left eye: 20/30, 20/25; visual field object III4e, square degrees right, left eye: 440, 464"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302233"	"04214"	"00410126"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 0.4, 0.1; visual acuity, Snellen, right, left eye: 20/50, 20/25; visual field object III4e, square degrees right, left eye: 171, 142"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302234"	"04214"	"00410127"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.1, 0.2; visual acuity, Snellen, right, left eye: 20/25, 20/30; visual field object III4e, square degrees right, left eye: 1008, 1528"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302235"	"04214"	"00410128"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.2, 0.2; visual acuity, Snellen, right, left eye: 20/30, 20/30; visual field object III4e, square degrees right, left eye: 1728, 2226"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302236"	"04214"	"00410129"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.2, 0.2; visual acuity, Snellen, right, left eye: 20/30, 20/30; visual field object III4e, square degrees right, left eye: 434, 426"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302237"	"04214"	"00410130"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.2, 0.2; visual acuity, Snellen, right, left eye: 20/30, 20/30; visual field object III4e, square degrees right, left eye: 163, 187"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302238"	"04214"	"00410131"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.2, 0.2; visual acuity, Snellen, right, left eye: 20/30, 20/30; visual field object III4e, square degrees right, left eye: 2383, 2593"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302239"	"04214"	"00410132"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0.3, 0.2; visual acuity, Snellen, right, left eye: 20/40, 20/30; visual field object III4e, square degrees right, left eye: 86, 107"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302240"	"04214"	"00410133"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.3, 0.2; visual acuity, Snellen, right, left eye: 20/40, 20/30; visual field object III4e, square degrees right, left eye: 1837, 1585"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302241"	"04214"	"00410134"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 7; visual acuity, logMAR right, left eye: 0.3, 0.2; visual acuity, Snellen, right, left eye: 20/40, 20/30; visual field object III4e, square degrees right, left eye: 1680, 3923"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302242"	"04214"	"00410135"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 0.5, 0.2; visual acuity, Snellen, right, left eye: 20/60, 20/30; visual field object III4e, square degrees right, left eye: 187, 117"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302243"	"04214"	"00410136"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 7; visual acuity, logMAR right, left eye: 0.6, 0.2; visual acuity, Snellen, right, left eye: 20/80, 20/30; visual field object III4e, square degrees right, left eye: 70, 124"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302244"	"04214"	"00410137"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 2; visual acuity, logMAR right, left eye: 0.3, 0.3; visual acuity, Snellen, right, left eye: 20/40, 20/40; visual field object III4e, square degrees right, left eye: 1967, 2961"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302245"	"04214"	"00410138"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0.3, 0.3; visual acuity, Snellen, right, left eye: 20/40, 20/40; visual field object III4e, square degrees right, left eye: 6737, 7446"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302246"	"04214"	"00410139"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.3, 0.3; visual acuity, Snellen, right, left eye: 20/40, 20/40; visual field object III4e, square degrees right, left eye: 562, 1299"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302247"	"04214"	"00410140"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0.4, 0.3; visual acuity, Snellen, right, left eye: 20/50, 20/40; visual field object III4e, square degrees right, left eye: 8937, 7597"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302248"	"04214"	"00410141"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 7; visual acuity, logMAR right, left eye: 0.4, 0.3; visual acuity, Snellen, right, left eye: 20/50, 20/40; visual field object III4e, square degrees right, left eye: 660, 523"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302249"	"04214"	"00410142"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 8; visual acuity, logMAR right, left eye: 1, 0.3; visual acuity, Snellen, right, left eye: 20/200, 20/40; visual field object III4e, square degrees right, left eye: 140, 107"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302250"	"04214"	"00410143"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.4, 0.4; visual acuity, Snellen, right, left eye: 20/50, 20/50; visual field object III4e, square degrees right, left eye: 702, 683"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302251"	"04214"	"00410144"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.5, 0.4; visual acuity, Snellen, right, left eye: 20/60, 20/50; visual field object III4e, square degrees right, left eye: 374, 267"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302252"	"04214"	"00410145"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 1, 0.4; visual acuity, Snellen, right, left eye: 20/200, 20/50; visual field object III4e, square degrees right, left eye: 444, 751"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302253"	"04214"	"00410146"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.2, 0.5; visual acuity, Snellen, right, left eye: 20/30, 20/60; visual field object III4e, square degrees right, left eye: 753, 576"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302254"	"04214"	"00410147"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 0.2, 0.5; visual acuity, Snellen, right, left eye: 20/30, 20/60; visual field object III4e, square degrees right, left eye: 8076, 9060"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302255"	"04214"	"00410148"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0.3, 0.5; visual acuity, Snellen, right, left eye: 20/40, 20/60; visual field object III4e, square degrees right, left eye: 7812, 9453"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302256"	"04214"	"00410149"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 0.5, 0.5; visual acuity, Snellen, right, left eye: 20/60, 20/60; visual field object III4e, square degrees right, left eye: 221, 167"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302257"	"04214"	"00410150"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 0.3, 0.7; visual acuity, Snellen, right, left eye: 20/40, 20/100; visual field object III4e, square degrees right, left eye: 324, 305"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302258"	"04214"	"00410151"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 3; visual acuity, logMAR right, left eye: 0.7, 0.7; visual acuity, Snellen, right, left eye: 20/100, 20/100; visual field object III4e, square degrees right, left eye: 6644, 6108"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302259"	"04214"	"00410152"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 7; visual acuity, logMAR right, left eye: 0.9, 0.7; visual acuity, Snellen, right, left eye: 20/160, 20/100; visual field object III4e, square degrees right, left eye: 255, 322"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302260"	"04214"	"00410153"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 1, 0.7; visual acuity, Snellen, right, left eye: 20/200, 20/100; visual field object III4e, square degrees right, left eye: 496, 365"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302261"	"04214"	"00410154"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 0.5, 0.8; visual acuity, Snellen, right, left eye: 20/60, 20/125; visual field object III4e, square degrees right, left eye: 318, 292"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302262"	"04214"	"00410155"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.7, 0.9; visual acuity, Snellen, right, left eye: 20/100, 20/160; visual field object III4e, square degrees right, left eye: 163, 204"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302263"	"04214"	"00410156"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 0.7, 0.9; visual acuity, Snellen, right, left eye: 20/100, 20/160; visual field object III4e, square degrees right, left eye: 592, 568"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302264"	"04214"	"00410157"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 4; visual acuity, logMAR right, left eye: 1, 1; visual acuity, Snellen, right, left eye: 20/200, 20/200; visual field object III4e, square degrees right, left eye: 394, 441"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302265"	"04214"	"00410158"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 1.2, 1; visual acuity, Snellen, right, left eye: 20/300, 20/200; visual field object III4e, square degrees right, left eye: 129, 90"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302266"	"04214"	"00410159"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 7; visual acuity, logMAR right, left eye: 1.1, 1.1; visual acuity, Snellen, right, left eye: 20/250, 20/250; visual field object III4e, square degrees right, left eye: 49, 33"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302267"	"04214"	"00410160"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 5; visual acuity, logMAR right, left eye: 1.2, 1.2; visual acuity, Snellen, right, left eye: 20/300, 20/300; visual field object III4e, square degrees right, left eye: 436, 583"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302268"	"04214"	"00410161"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 1.3, 1.3; visual acuity, Snellen, right, left eye: 20/400, 20/400; visual field object III4e, square degrees right, left eye: NA, 9"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302269"	"04214"	"00410162"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 6; visual acuity, logMAR right, left eye: 1/35 at 1 m, hand movements; visual acuity, Snellen, right, left eye: 1/35 at 1 m, HM; visual field object III4e, square degrees right, left eye: 218, 20"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302270"	"04214"	"00410163"	"00000"	"Familial, autosomal recessive"	""	"decade of life: 7; visual acuity, logMAR right, left eye: hand movements, hand movements; visual acuity, Snellen, right, left eye: hand movements, HM; visual field object III4e, square degrees right, left eye: NA, NA"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302446"	"00112"	"00410334"	"04178"	"Familial, autosomal dominant"	"06y"	"HP:0000546 - Retinal degeneration \r\nHP:0000510 - Rod-cone dystrophy"	"06y"	"12y"	""	""	""	""	""	""	""	""	""
"0000318062"	"04214"	"00426924"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000320357"	"00112"	"00429485"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320371"	"00112"	"00429499"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320376"	"00112"	"00429504"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320380"	"00112"	"00429508"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320406"	"00112"	"00429534"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320407"	"00112"	"00429535"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320424"	"00112"	"00429552"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320532"	"00112"	"00429660"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320590"	"00112"	"00429718"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320615"	"00112"	"00429743"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320619"	"00112"	"00429747"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320635"	"00112"	"00429763"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320661"	"00112"	"00429789"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320688"	"00112"	"00429816"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320701"	"00112"	"00429829"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320738"	"00112"	"00429866"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320772"	"00112"	"00429900"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320826"	"00112"	"00429954"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320929"	"00112"	"00430057"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320949"	"00112"	"00430077"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320956"	"00112"	"00430084"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320971"	"00112"	"00430099"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321003"	"00112"	"00430131"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321009"	"00112"	"00430137"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326608"	"02156"	"00436429"	"04552"	"Familial, autosomal recessive"	"65y"	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	"05y"	"05y"	"5y"	""	""	""	""	""	"RP43"	"Retinitis pigmentosa"	""
"0000326620"	"02156"	"00436441"	"04552"	"Familial, autosomal recessive"	"49y"	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	"08y"	"08y"	"8y"	""	""	""	""	""	"RP43"	"Retinitis pigmentosa"	""
"0000336180"	"00198"	"00446981"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336197"	"00198"	"00446998"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336205"	"00198"	"00447006"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336217"	"00198"	"00447018"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336492"	"00198"	"00447293"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336705"	"00198"	"00447506"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336728"	"00198"	"00447529"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000336782"	"00198"	"00447583"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336852"	"00198"	"00447653"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000346467"	"00198"	"00458017"	"00006"	"Familial, autosomal recessive"	"1.8y"	"see paper; ..., no microcephaly; optic atrophy; MRI brain normal; no seizures; global development delay; no regression; hypotonia; abnormal movements"	""	""	""	""	""	""	""	""	"MMDS9B"	"mitochondriopathy"	""
"0000348595"	"04214"	"00461095"	"00006"	"Familial, autosomal recessive"	""	""	"10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""


## Screenings ## Do not remove or alter this header ##
## Count = 380
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000140"	"00000154"	"1"	"00014"	"00008"	"2012-07-11 13:19:04"	"00006"	"2019-10-27 12:50:02"	"arraySNP"	"DNA"	""	""
"0000000226"	"00000223"	"1"	"00041"	"00041"	"2012-10-28 22:30:45"	""	""	"SEQ"	"DNA"	""	""
"0000001596"	"00001793"	"1"	"00102"	"00102"	"2013-08-08 19:06:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000016365"	"00016423"	"1"	"00696"	"00696"	"2014-04-16 15:10:49"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000016366"	"00016423"	"1"	"00696"	"00696"	"2014-04-16 15:25:55"	""	""	"SEQ"	"DNA"	""	""
"0000096329"	"00095926"	"1"	"01769"	"01769"	"2017-01-25 20:35:23"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000096331"	"00095928"	"1"	"01769"	"01769"	"2017-01-25 20:48:29"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000096362"	"00095959"	"1"	"01769"	"01769"	"2017-01-26 23:00:48"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100486"	"00100082"	"1"	"01769"	"01769"	"2017-01-30 16:32:00"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100489"	"00100085"	"1"	"01769"	"01769"	"2017-01-30 16:44:24"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000145131"	"00144272"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000156382"	"00155517"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156383"	"00155518"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156384"	"00155519"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156385"	"00155520"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000233718"	"00232619"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233719"	"00232620"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233720"	"00232621"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233721"	"00232622"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233722"	"00232623"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233723"	"00232624"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233724"	"00232625"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233725"	"00232626"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233726"	"00232627"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233727"	"00232628"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233728"	"00232629"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233729"	"00232630"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233730"	"00232631"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233731"	"00232632"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233732"	"00232633"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233733"	"00232634"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233734"	"00232635"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233735"	"00232636"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233736"	"00232637"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234780"	"00233681"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234781"	"00233682"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000241560"	"00240450"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000294958"	"00293790"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294959"	"00293791"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294961"	"00293793"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000300751"	"00299641"	"1"	"00006"	"00006"	"2020-04-18 08:53:03"	"00006"	"2020-04-18 09:16:58"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WGS"
"0000306149"	"00305020"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309674"	"00308529"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309675"	"00308530"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309676"	"00308531"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309763"	"00308618"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309797"	"00308652"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000309798"	"00308653"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000310428"	"00309283"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310429"	"00309284"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310431"	"00309286"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310432"	"00309287"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310433"	"00309288"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310434"	"00309289"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310435"	"00309290"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310436"	"00309291"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310966"	"00309821"	"1"	"00006"	"00006"	"2020-09-03 19:48:29"	""	""	"SEQ"	"DNA"	""	""
"0000325718"	"00324526"	"1"	"03960"	"03960"	"2020-12-18 10:26:14"	"00006"	"2021-01-05 14:19:27"	"SEQ;SEQ-NG"	"DNA"	"Blood"	"WES"
"0000326707"	"00325496"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326724"	"00325513"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329123"	"00327908"	"1"	"00000"	"00006"	"2021-01-27 12:00:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329135"	"00327920"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329273"	"00328058"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329471"	"00328256"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000333425"	"00332205"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000334683"	"00333458"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000336113"	"00334884"	"1"	"00000"	"00006"	"2021-03-02 11:57:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336457"	"00335228"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000336458"	"00335229"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000336465"	"00335236"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000360213"	"00358976"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360454"	"00359216"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363401"	"00362172"	"1"	"00000"	"00006"	"2021-04-15 17:02:42"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000363417"	"00362188"	"1"	"00000"	"00006"	"2021-04-15 17:02:42"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364741"	"00363513"	"1"	"00000"	"00006"	"2021-04-29 10:58:03"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373890"	"00372658"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373896"	"00372664"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373899"	"00372667"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373902"	"00372670"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373904"	"00372672"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373926"	"00372694"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373936"	"00372704"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373963"	"00372731"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374586"	"00373351"	"1"	"00006"	"00006"	"2021-05-14 08:19:44"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000374651"	"00373416"	"1"	"00000"	"00006"	"2021-05-14 15:17:31"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000375167"	"00373935"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376102"	"00374908"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376626"	"00375429"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377977"	"00376771"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378002"	"00376796"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000379022"	"00377818"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PE"	"DNA"	"blood"	""
"0000379023"	"00377819"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PE"	"DNA"	"blood"	""
"0000379044"	"00377840"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PE"	"DNA"	"blood"	""
"0000379141"	"00377937"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379142"	"00377938"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000380586"	"00379386"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380587"	"00379387"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380599"	"00379399"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	"blood"	""
"0000381053"	"00379851"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381054"	"00379852"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing"
"0000381055"	"00379853"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing"
"0000381352"	"00380150"	"1"	"03508"	"03508"	"2021-08-10 09:55:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381393"	"00380191"	"1"	"00000"	"03840"	"2021-08-11 10:47:34"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381523"	"00380309"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000381583"	"00380369"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000381588"	"00380374"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000382429"	"00381214"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382440"	"00381225"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382833"	"00381617"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382871"	"00381655"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382901"	"00381685"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383100"	"00381884"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000383532"	"00382318"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383547"	"00382333"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383548"	"00382334"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383549"	"00382335"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383550"	"00382336"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383551"	"00382337"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383552"	"00382338"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383553"	"00382339"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383786"	"00382572"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000384281"	"00383057"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384283"	"00383059"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384284"	"00383060"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384286"	"00383062"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384288"	"00383064"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384289"	"00383065"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384291"	"00383067"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384292"	"00383068"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384297"	"00383073"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384299"	"00383075"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384301"	"00383077"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384302"	"00383078"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384304"	"00383080"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384306"	"00383082"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384308"	"00383084"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384312"	"00383088"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384316"	"00383092"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384318"	"00383094"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384321"	"00383097"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384325"	"00383101"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384326"	"00383102"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384723"	"00383498"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000384724"	"00383499"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000384970"	"00383745"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000384977"	"00383752"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000384985"	"00383760"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000384995"	"00383770"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385009"	"00383784"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385010"	"00383785"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385034"	"00383809"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385140"	"00383915"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385174"	"00383949"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385185"	"00383960"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385217"	"00383992"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385245"	"00384020"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385246"	"00384021"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385311"	"00384086"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385325"	"00384100"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385333"	"00384108"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385381"	"00384156"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000386631"	"00385402"	"1"	"00000"	"03840"	"2021-10-10 19:46:50"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387422"	"00386193"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387502"	"00386273"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387827"	"00386599"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387839"	"00386611"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387866"	"00386638"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387892"	"00386664"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387982"	"00386754"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388289"	"00387063"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388290"	"00387064"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388291"	"00387065"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390097"	"00388854"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390098"	"00388855"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000390347"	"00389104"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000390568"	"00389325"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390758"	"00389515"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390766"	"00389523"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390986"	"00389743"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000391078"	"00389835"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000391122"	"00389879"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391123"	"00389880"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391167"	"00389924"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391168"	"00389925"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391187"	"00389944"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391228"	"00389985"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391231"	"00389988"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391572"	"00390331"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391573"	"00390332"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392000"	"00390759"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392016"	"00390775"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392028"	"00390787"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392804"	"00391562"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392805"	"00391563"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000393846"	"00392599"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000394698"	"00393450"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394747"	"00393499"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000394748"	"00393500"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000394871"	"00393623"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395571"	"00394324"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395572"	"00394325"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395859"	"00394612"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395860"	"00394613"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395861"	"00394614"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395862"	"00394615"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395863"	"00394616"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397764"	"00396521"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000400116"	"00398874"	"1"	"00000"	"03840"	"2022-01-14 11:01:01"	""	""	"?"	"DNA"	""	""
"0000400117"	"00398875"	"1"	"00000"	"03840"	"2022-01-14 11:01:01"	""	""	"?"	"DNA"	""	""
"0000400118"	"00398876"	"1"	"00000"	"03840"	"2022-01-14 11:01:01"	""	""	"?"	"DNA"	""	""
"0000400211"	"00398966"	"1"	"00000"	"03840"	"2022-01-14 19:21:38"	""	""	"?"	"DNA"	""	""
"0000400212"	"00398967"	"1"	"00000"	"03840"	"2022-01-14 19:21:38"	""	""	"?"	"DNA"	""	""
"0000400401"	"00399158"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400402"	"00399159"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400403"	"00399160"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400404"	"00399161"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400405"	"00399162"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400406"	"00399163"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400407"	"00399164"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400408"	"00399165"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400409"	"00399166"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400410"	"00399167"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400411"	"00399168"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400412"	"00399169"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400413"	"00399170"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400414"	"00399171"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400415"	"00399172"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400416"	"00399173"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400417"	"00399174"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400418"	"00399175"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400419"	"00399176"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400420"	"00399177"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400421"	"00399178"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000400422"	"00399179"	"1"	"00000"	"03840"	"2022-01-17 12:36:54"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"for techniques used for each patient see paper supplemental data"
"0000404501"	"00403260"	"1"	"00000"	"00008"	"2022-02-18 11:06:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000404502"	"00403261"	"1"	"00000"	"00008"	"2022-02-18 11:06:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000409314"	"00408059"	"1"	"00000"	"03840"	"2022-04-13 12:09:21"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000411320"	"00410058"	"1"	"00000"	"03840"	"2022-05-18 13:43:26"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000411321"	"00410059"	"1"	"00000"	"03840"	"2022-05-18 13:43:26"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000411322"	"00410060"	"1"	"00000"	"03840"	"2022-05-18 13:43:26"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000411323"	"00410061"	"1"	"00000"	"03840"	"2022-05-18 13:43:26"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000411324"	"00410062"	"1"	"00000"	"03840"	"2022-05-18 13:43:26"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000411325"	"00410063"	"1"	"00000"	"03840"	"2022-05-18 13:43:26"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000411326"	"00410064"	"1"	"00000"	"03840"	"2022-05-18 14:26:33"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411327"	"00410065"	"1"	"00000"	"03840"	"2022-05-18 14:26:33"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411328"	"00410066"	"1"	"00000"	"03840"	"2022-05-18 14:26:33"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411329"	"00410067"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411330"	"00410068"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411331"	"00410069"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411332"	"00410070"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411333"	"00410071"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411334"	"00410072"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411335"	"00410073"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411336"	"00410074"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411337"	"00410075"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411338"	"00410076"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411339"	"00410077"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411340"	"00410078"	"1"	"00000"	"03840"	"2022-05-18 15:01:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411341"	"00410079"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411342"	"00410080"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411343"	"00410081"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411344"	"00410082"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411345"	"00410083"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411346"	"00410084"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411347"	"00410085"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411348"	"00410086"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411349"	"00410087"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411350"	"00410088"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411351"	"00410089"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411352"	"00410090"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411353"	"00410091"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411354"	"00410092"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411355"	"00410093"	"1"	"00000"	"03840"	"2022-05-18 16:46:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000411357"	"00410095"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411358"	"00410096"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411359"	"00410097"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411360"	"00410098"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411361"	"00410099"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411362"	"00410100"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411363"	"00410101"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411364"	"00410102"	"1"	"00000"	"03840"	"2022-05-18 20:43:18"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Asper Biotech chip"
"0000411365"	"00410103"	"1"	"00000"	"03840"	"2022-05-18 21:55:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (NGS) of 163 genes involved in inherited retinal disorders"
"0000411366"	"00410104"	"1"	"00000"	"03840"	"2022-05-18 23:08:24"	""	""	"?"	"DNA"	""	""
"0000411369"	"00410107"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411370"	"00410108"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411371"	"00410109"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411372"	"00410110"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411373"	"00410111"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411374"	"00410112"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411375"	"00410113"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411376"	"00410114"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411377"	"00410115"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411378"	"00410116"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411379"	"00410117"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411380"	"00410118"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411381"	"00410119"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411382"	"00410120"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411383"	"00410121"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411384"	"00410122"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411385"	"00410123"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411386"	"00410124"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411387"	"00410125"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411388"	"00410126"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411389"	"00410127"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411390"	"00410128"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411391"	"00410129"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411392"	"00410130"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411393"	"00410131"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411394"	"00410132"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411395"	"00410133"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411396"	"00410134"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411397"	"00410135"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411398"	"00410136"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411399"	"00410137"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411400"	"00410138"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411401"	"00410139"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411402"	"00410140"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411403"	"00410141"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411404"	"00410142"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411405"	"00410143"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411406"	"00410144"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411407"	"00410145"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411408"	"00410146"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411409"	"00410147"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411410"	"00410148"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411411"	"00410149"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411412"	"00410150"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411413"	"00410151"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411414"	"00410152"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411415"	"00410153"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411416"	"00410154"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411417"	"00410155"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411418"	"00410156"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411419"	"00410157"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411420"	"00410158"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411421"	"00410159"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411422"	"00410160"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411423"	"00410161"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411424"	"00410162"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411425"	"00410163"	"1"	"00000"	"03840"	"2022-05-19 12:11:25"	""	""	"?"	"DNA"	""	"retrospective study"
"0000411606"	"00410334"	"1"	"04178"	"04178"	"2022-05-24 13:08:38"	"04178"	"2022-05-24 13:25:28"	"SEQ-NG"	"DNA"	"blood"	"specific hereditary eye disease enrichment panel followed by Sanger sequencing"
"0000412622"	"00411352"	"1"	"04333"	"04333"	"2022-06-12 11:28:09"	""	""	"SEQ-NG"	"DNA"	""	"MIPs"
"0000428244"	"00426924"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000430898"	"00429485"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430912"	"00429499"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430917"	"00429504"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430921"	"00429508"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430947"	"00429534"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430948"	"00429535"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430965"	"00429552"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431073"	"00429660"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431131"	"00429718"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431156"	"00429743"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431160"	"00429747"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431176"	"00429763"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431202"	"00429789"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431229"	"00429816"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431242"	"00429829"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431279"	"00429866"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431313"	"00429900"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431367"	"00429954"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431470"	"00430057"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431490"	"00430077"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431497"	"00430084"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431512"	"00430099"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431544"	"00430131"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431550"	"00430137"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000437913"	"00436429"	"1"	"04552"	"04552"	"2023-09-15 19:58:53"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000437925"	"00436441"	"1"	"04552"	"04552"	"2023-09-15 21:01:35"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000448558"	"00446981"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448575"	"00446998"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448583"	"00447006"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448595"	"00447018"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448870"	"00447293"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449083"	"00447506"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449106"	"00447529"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449160"	"00447583"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449230"	"00447653"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000459637"	"00458017"	"1"	"00006"	"00006"	"2024-11-25 14:01:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000462727"	"00461095"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 348
"{{screeningid}}"	"{{geneid}}"
"0000000140"	"IL8"
"0000000226"	"CCDC39"
"0000016366"	"PDE6A"
"0000016366"	"SH3TC2"
"0000096329"	"PDE6A"
"0000096331"	"PDE6A"
"0000096362"	"PDE6A"
"0000100486"	"PDE6A"
"0000100489"	"PDE6A"
"0000145131"	"EYS"
"0000156382"	"PDE6A"
"0000156383"	"PDE6A"
"0000156384"	"PDE6A"
"0000156385"	"PDE6A"
"0000233718"	"PDE6A"
"0000233719"	"PDE6A"
"0000233720"	"PDE6A"
"0000233721"	"PDE6A"
"0000233722"	"PDE6A"
"0000233723"	"PDE6A"
"0000233724"	"PDE6A"
"0000233725"	"PDE6A"
"0000233726"	"PDE6A"
"0000233727"	"PDE6A"
"0000233728"	"PDE6A"
"0000233729"	"PDE6A"
"0000233730"	"PDE6A"
"0000233731"	"PDE6A"
"0000233732"	"PDE6A"
"0000233733"	"PDE6A"
"0000233734"	"PDE6A"
"0000233735"	"PDE6A"
"0000233736"	"PDE6A"
"0000234780"	"PDE6A"
"0000234781"	"PDE6A"
"0000241560"	"PDE6A"
"0000300751"	"ARHGEF18"
"0000309674"	"PDE6A"
"0000309675"	"PDE6A"
"0000309676"	"PDE6A"
"0000309763"	"PDE6A"
"0000309797"	"PDE6A"
"0000309798"	"PDE6A"
"0000310428"	"PDE6A"
"0000310429"	"PDE6A"
"0000310431"	"PDE6A"
"0000310432"	"PDE6A"
"0000310433"	"PDE6A"
"0000310434"	"PDE6A"
"0000310435"	"PDE6A"
"0000310436"	"PDE6A"
"0000310966"	"PDE6A"
"0000325718"	"POC1B"
"0000326707"	"PDE6A"
"0000326724"	"PDE6A"
"0000329123"	"PDE6A"
"0000329135"	"PDE6A"
"0000329273"	"PDE6A"
"0000329471"	"PDE6A"
"0000334683"	"PDE6A"
"0000336113"	"PDE6A"
"0000336457"	"PDE6A"
"0000336458"	"PDE6A"
"0000336465"	"PDE6A"
"0000363401"	"PDE6A"
"0000363417"	"PDE6A"
"0000364741"	"PDE6A"
"0000374586"	"PDE6A"
"0000374651"	"PDE6A"
"0000375167"	"PDE6A"
"0000379022"	"PDE6A"
"0000379023"	"PDE6A"
"0000379044"	"PDE6A"
"0000379141"	"PDE6A"
"0000379142"	"PDE6A"
"0000380586"	"PDE6A"
"0000380587"	"PDE6A"
"0000380599"	"ABCA4"
"0000381053"	"PDE6A"
"0000381054"	"PDE6A"
"0000381055"	"PDE6A"
"0000381393"	"PDE6A"
"0000381523"	"PDE6A"
"0000381583"	"PDE6A"
"0000381588"	"PDE6A"
"0000382429"	"PDE6A"
"0000382440"	"PDE6A"
"0000382833"	"TULP1"
"0000382871"	"TOPORS"
"0000382901"	"PDE6A"
"0000383100"	"PDE6A"
"0000383532"	"GPR98"
"0000383547"	"PDE6A"
"0000383548"	"PDE6A"
"0000383549"	"PDE6A"
"0000383550"	"PDE6A"
"0000383551"	"PDE6A"
"0000383552"	"PDE6A"
"0000383553"	"PDE6A"
"0000383786"	"PDE6A"
"0000384281"	"PDE6A"
"0000384283"	"RHO"
"0000384284"	"PRPF31"
"0000384286"	"PDE6A"
"0000384288"	"PRPF31"
"0000384289"	"PRPF31"
"0000384291"	"PDE6A"
"0000384292"	"PDE6A"
"0000384297"	"RHO"
"0000384299"	"PRPF31"
"0000384301"	"PRPF3"
"0000384302"	"PDE6A"
"0000384304"	"ROM1"
"0000384306"	"PDE6A"
"0000384308"	"PDE6A"
"0000384312"	"PDE6A"
"0000384316"	"PDE6A"
"0000384318"	"PDE6A"
"0000384321"	"PDE6A"
"0000384325"	"PDE6A"
"0000384326"	"PDE6A"
"0000384723"	"PDE6A"
"0000384724"	"PDE6A"
"0000384970"	"PDE6A"
"0000384977"	"PDE6A"
"0000384985"	"PDE6A"
"0000384995"	"PDE6A"
"0000385009"	"PDE6A"
"0000385010"	"PDE6A"
"0000385034"	"PDE6A"
"0000385140"	"PDE6A"
"0000385174"	"PDE6A"
"0000385185"	"PDE6A"
"0000385217"	"PDE6A"
"0000385245"	"PDE6A"
"0000385246"	"PDE6A"
"0000385311"	"PDE6A"
"0000385325"	"NR2E3"
"0000385333"	"PDE6A"
"0000385381"	"PDE6A"
"0000386631"	"PDE6A"
"0000387422"	"PRPF3"
"0000387502"	"C21orf2"
"0000387827"	"PDE6A"
"0000387839"	"PDE6A"
"0000387866"	"PDE6A"
"0000387892"	"PDE6A"
"0000387982"	"PDE6A"
"0000388289"	"PDE6A"
"0000388290"	"PDE6A"
"0000388291"	"PDE6A"
"0000390097"	"PDE6A"
"0000390098"	"PDE6A"
"0000390347"	"PDE6A"
"0000390568"	"PDE6A"
"0000390758"	"PDE6A"
"0000390766"	"PDE6A"
"0000390986"	"PDE6A"
"0000391078"	"PDE6A"
"0000391122"	"PDE6A"
"0000391123"	"PDE6A"
"0000391167"	"PDE6A"
"0000391168"	"PDE6A"
"0000391187"	"PDE6A"
"0000391228"	"PDE6A"
"0000391231"	"PDE6A"
"0000391572"	"PDE6A"
"0000391573"	"PDE6A"
"0000392000"	"PDE6A"
"0000392016"	"PDE6A"
"0000392028"	"PDE6A"
"0000392804"	"PDE6A"
"0000392805"	"PDE6A"
"0000393846"	"PDE6A"
"0000394698"	"PDE6A"
"0000394747"	"PDE6A"
"0000394748"	"PDE6A"
"0000394871"	"PDE6A"
"0000395571"	"PDE6A"
"0000395572"	"PDE6A"
"0000395859"	"PDE6A"
"0000395860"	"PDE6A"
"0000395861"	"PDE6A"
"0000395862"	"PDE6A"
"0000395863"	"PDE6A"
"0000397764"	"RPGR"
"0000400116"	"PDE6A"
"0000400117"	"PDE6A"
"0000400118"	"PDE6A"
"0000400211"	"PDE6B"
"0000400212"	"PDE6B"
"0000400401"	"PDE6A"
"0000400402"	"PDE6A"
"0000400403"	"PDE6A"
"0000400404"	"PDE6A"
"0000400405"	"PDE6A"
"0000400406"	"PDE6A"
"0000400407"	"PDE6A"
"0000400408"	"PDE6A"
"0000400409"	"PDE6A"
"0000400410"	"PDE6A"
"0000400411"	"PDE6A"
"0000400412"	"PDE6A"
"0000400413"	"PDE6A"
"0000400414"	"PDE6A"
"0000400415"	"PDE6A"
"0000400416"	"PDE6A"
"0000400417"	"PDE6A"
"0000400418"	"PDE6A"
"0000400419"	"PDE6A"
"0000400420"	"PDE6A"
"0000400421"	"PDE6A"
"0000400422"	"PDE6A"
"0000404501"	"CACNA1F"
"0000404502"	"CACNA1F"
"0000409314"	"PDE6A"
"0000411320"	"PDE6A"
"0000411321"	"PDE6A"
"0000411322"	"PDE6A"
"0000411323"	"PDE6A"
"0000411324"	"PDE6A"
"0000411325"	"PDE6A"
"0000411326"	"PDE6A"
"0000411327"	"PDE6A"
"0000411328"	"PDE6A"
"0000411329"	"PDE6A"
"0000411330"	"PDE6A"
"0000411331"	"PDE6A"
"0000411332"	"PDE6A"
"0000411333"	"PDE6A"
"0000411334"	"PDE6A"
"0000411335"	"PDE6A"
"0000411336"	"PDE6A"
"0000411337"	"PDE6A"
"0000411338"	"PDE6A"
"0000411339"	"PDE6A"
"0000411340"	"PDE6A"
"0000411341"	"PDE6A"
"0000411342"	"PDE6A"
"0000411343"	"PDE6A"
"0000411344"	"PDE6A"
"0000411345"	"PDE6A"
"0000411346"	"PDE6A"
"0000411347"	"PDE6A"
"0000411348"	"PDE6A"
"0000411349"	"PDE6A"
"0000411350"	"PDE6A"
"0000411351"	"PDE6A"
"0000411352"	"PDE6A"
"0000411353"	"PDE6A"
"0000411354"	"PDE6A"
"0000411355"	"PDE6A"
"0000411357"	"PDE6A"
"0000411358"	"PDE6A"
"0000411359"	"PDE6A"
"0000411360"	"PDE6A"
"0000411361"	"PDE6A"
"0000411362"	"PDE6A"
"0000411363"	"PDE6A"
"0000411364"	"PDE6A"
"0000411365"	"PDE6A"
"0000411366"	"PDE6A"
"0000411369"	"PDE6A"
"0000411370"	"PDE6A"
"0000411371"	"PDE6A"
"0000411372"	"PDE6A"
"0000411373"	"PDE6A"
"0000411374"	"PDE6A"
"0000411375"	"PDE6A"
"0000411376"	"PDE6A"
"0000411377"	"PDE6A"
"0000411378"	"PDE6A"
"0000411379"	"PDE6A"
"0000411380"	"PDE6A"
"0000411381"	"PDE6A"
"0000411382"	"PDE6A"
"0000411383"	"PDE6A"
"0000411384"	"PDE6A"
"0000411385"	"PDE6A"
"0000411386"	"PDE6A"
"0000411387"	"PDE6A"
"0000411388"	"PDE6A"
"0000411389"	"PDE6A"
"0000411390"	"PDE6A"
"0000411391"	"PDE6A"
"0000411392"	"PDE6A"
"0000411393"	"PDE6A"
"0000411394"	"PDE6A"
"0000411395"	"PDE6A"
"0000411396"	"PDE6A"
"0000411397"	"PDE6A"
"0000411398"	"PDE6A"
"0000411399"	"PDE6A"
"0000411400"	"PDE6A"
"0000411401"	"PDE6A"
"0000411402"	"PDE6A"
"0000411403"	"PDE6A"
"0000411404"	"PDE6A"
"0000411405"	"PDE6A"
"0000411406"	"PDE6A"
"0000411407"	"PDE6A"
"0000411408"	"PDE6A"
"0000411409"	"PDE6A"
"0000411410"	"PDE6A"
"0000411411"	"PDE6A"
"0000411412"	"PDE6A"
"0000411413"	"PDE6A"
"0000411414"	"PDE6A"
"0000411415"	"PDE6A"
"0000411416"	"PDE6A"
"0000411417"	"PDE6A"
"0000411418"	"PDE6A"
"0000411419"	"PDE6A"
"0000411420"	"PDE6A"
"0000411421"	"PDE6A"
"0000411422"	"PDE6A"
"0000411423"	"PDE6A"
"0000411424"	"PDE6A"
"0000411425"	"PDE6A"
"0000411606"	"CA4"
"0000411606"	"PDE6A"
"0000428244"	"RPE65"
"0000430898"	"PDE6A"
"0000430912"	"PDE6A"
"0000430917"	"PDE6A"
"0000430921"	"PDE6A"
"0000430947"	"PDE6A"
"0000430948"	"PDE6A"
"0000430965"	"PDE6A"
"0000431073"	"PDE6A"
"0000431131"	"PDE6A"
"0000431156"	"PDE6A"
"0000431160"	"PDE6A"
"0000431176"	"PDE6A"
"0000431202"	"PDE6A"
"0000431229"	"PDE6A"
"0000431242"	"PDE6A"
"0000431279"	"PDE6A"
"0000431313"	"PDE6A"
"0000431367"	"PDE6A"
"0000431470"	"PDE6A"
"0000431490"	"PDE6A"
"0000431497"	"PDE6A"
"0000431512"	"PDE6A"
"0000431544"	"PDE6A"
"0000431550"	"PDE6A"
"0000437913"	"PDE6A"
"0000437925"	"PDE6A"


## 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 = 617
"{{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}}"
"0000019496"	"0"	"55"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00102"	"PDE6A_000001"	"g.149274769G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.149895206G>T"	""	"VUS"	""
"0000019497"	"0"	"55"	"5"	"149275919"	"149275919"	"subst"	"0"	"00102"	"PDE6A_000002"	"g.149275919C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.149896356C>T"	""	"VUS"	""
"0000036178"	"3"	"75"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00696"	"PDE6A_000001"	"g.149274769G>T"	"37/38 reads"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000158322"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"01769"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	""
"0000158324"	"3"	"90"	"5"	"149263029"	"149263029"	"dup"	"0"	"01769"	"PDE6A_000004"	"g.149263029dup"	""	"{PMID:Li 2017:28418496}"	""	"2098dupT"	""	"Germline"	"yes"	""	"0"	""	""	"g.149883466dup"	""	"pathogenic"	""
"0000158354"	"3"	"90"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"01769"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"pathogenic"	""
"0000162785"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"01769"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	""
"0000162788"	"3"	"90"	"5"	"149263100"	"149263100"	"subst"	"0"	"01769"	"PDE6A_000006"	"g.149263100C>T"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	"f3h@helix.nih.gov"	""	"g.149883537C>T"	""	"pathogenic"	""
"0000246405"	"0"	"50"	"5"	"149265919"	"149265919"	"subst"	"0"	"02330"	"PDE6A_000014"	"g.149265919A>T"	""	""	""	"PDE6A(NM_000440.3):c.1747T>A (p.Y583N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149886356A>T"	""	"VUS"	""
"0000253523"	"0"	"10"	"5"	"149245790"	"149245790"	"subst"	"0.0015433"	"01943"	"PDE6A_000009"	"g.149245790A>G"	""	""	""	"PDE6A(NM_000440.2):c.2301T>C (p.D767=), PDE6A(NM_000440.3):c.2301T>C (p.D767=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149866227A>G"	""	"benign"	""
"0000255227"	"0"	"30"	"5"	"149247730"	"149247730"	"subst"	"0"	"01943"	"PDE6A_000012"	"g.149247730A>T"	""	""	""	"PDE6A(NM_000440.2):c.2136-9T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149868167A>T"	""	"likely benign"	""
"0000256337"	"0"	"50"	"5"	"149247713"	"149247713"	"subst"	"0.000223405"	"01943"	"PDE6A_000011"	"g.149247713A>G"	""	""	""	"PDE6A(NM_000440.2):c.2144T>C (p.M715T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149868150A>G"	""	"VUS"	""
"0000293595"	"0"	"10"	"5"	"149324135"	"149324135"	"subst"	"0.000471315"	"02330"	"PDE6A_000027"	"g.149324135G>A"	""	""	""	"PDE6A(NM_000440.3):c.102C>T (p.S34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944572G>A"	""	"benign"	""
"0000293596"	"0"	"50"	"5"	"149278964"	"149278964"	"subst"	"0"	"02330"	"PDE6A_000017"	"g.149278964C>A"	""	""	""	"PDE6A(NM_000440.3):c.1237G>T (p.D413Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149899401C>A"	""	"VUS"	""
"0000293597"	"0"	"30"	"5"	"149263110"	"149263110"	"subst"	"0"	"02330"	"PDE6A_000013"	"g.149263110T>A"	""	""	""	"PDE6A(NM_000440.3):c.2028-11A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149883547T>A"	""	"likely benign"	""
"0000293598"	"0"	"50"	"5"	"149247313"	"149247313"	"subst"	"0.000219628"	"02330"	"PDE6A_000010"	"g.149247313C>T"	""	""	""	"PDE6A(NM_000440.2):c.2249G>A (p.R750H), PDE6A(NM_000440.3):c.2249G>A (p.R750H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149867750C>T"	""	"VUS"	""
"0000293599"	"0"	"50"	"5"	"149313488"	"149313488"	"subst"	"4.49651E-5"	"02330"	"PDE6A_000023"	"g.149313488C>T"	""	""	""	"PDE6A(NM_000440.3):c.717+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149933925C>T"	""	"VUS"	""
"0000293600"	"0"	"10"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"02330"	"PDE6A_000021"	"g.149301253G>A"	""	""	""	"PDE6A(NM_000440.3):c.878C>T (p.P293L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149921690G>A"	""	"benign"	""
"0000305333"	"0"	"30"	"5"	"149275925"	"149275925"	"subst"	"0.00103596"	"01943"	"PDE6A_000016"	"g.149275925T>C"	""	""	""	"PDE6A(NM_000440.2):c.1614A>G (p.P538=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149896362T>C"	""	"likely benign"	""
"0000305334"	"0"	"30"	"5"	"149274812"	"149274812"	"subst"	"0"	"01943"	"PDE6A_000015"	"g.149274812G>A"	""	""	""	"PDE6A(NM_000440.2):c.1662C>T (p.R554=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149895249G>A"	""	"likely benign"	""
"0000305335"	"0"	"10"	"5"	"149324060"	"149324060"	"subst"	"0.00250339"	"01943"	"PDE6A_000026"	"g.149324060T>C"	""	""	""	"PDE6A(NM_000440.2):c.177A>G (p.E59=), PDE6A(NM_000440.3):c.177A>G (p.E59=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944497T>C"	""	"benign"	""
"0000305336"	"0"	"50"	"5"	"149247313"	"149247313"	"subst"	"0.000219628"	"01943"	"PDE6A_000010"	"g.149247313C>T"	""	""	""	"PDE6A(NM_000440.2):c.2249G>A (p.R750H), PDE6A(NM_000440.3):c.2249G>A (p.R750H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149867750C>T"	""	"VUS"	""
"0000305337"	"0"	"30"	"5"	"149240529"	"149240529"	"subst"	"4.88774E-5"	"01943"	"PDE6A_000008"	"g.149240529C>T"	""	""	""	"PDE6A(NM_000440.2):c.2512G>A (p.A838T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149860966C>T"	""	"likely benign"	""
"0000305338"	"0"	"50"	"5"	"149240492"	"149240492"	"subst"	"0.00106482"	"01943"	"PDE6A_000007"	"g.149240492C>A"	""	""	""	"PDE6A(NM_000440.2):c.2549G>T (p.G850V), PDE6A(NM_000440.3):c.2549G>T (p.G850V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149860929C>A"	""	"VUS"	""
"0000305339"	"0"	"50"	"5"	"149323955"	"149323955"	"subst"	"0.000292509"	"01943"	"PDE6A_000025"	"g.149323955C>T"	""	""	""	"PDE6A(NM_000440.2):c.282G>A (p.M94I), PDE6A(NM_000440.3):c.282G>A (p.M94I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944392C>T"	""	"VUS"	""
"0000305340"	"0"	"10"	"5"	"149314258"	"149314258"	"subst"	"0.00274529"	"01943"	"PDE6A_000024"	"g.149314258C>T"	""	""	""	"PDE6A(NM_000440.2):c.498G>A (p.V166=), PDE6A(NM_000440.3):c.498G>A (p.V166=, p.(Val166=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149934695C>T"	""	"benign"	""
"0000305342"	"0"	"50"	"5"	"149324149"	"149324149"	"subst"	"2.43815E-5"	"01943"	"PDE6A_000028"	"g.149324149C>T"	""	""	""	"PDE6A(NM_000440.2):c.88G>A (p.A30T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944586C>T"	""	"VUS"	""
"0000305343"	"0"	"90"	"5"	"149301225"	"149301225"	"subst"	"0"	"01943"	"PDE6A_000020"	"g.149301225G>C"	""	""	""	"PDE6A(NM_000440.2):c.906C>G (p.Y302*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149921662G>C"	""	"pathogenic"	""
"0000305344"	"0"	"30"	"5"	"149301207"	"149301207"	"subst"	"0.000125913"	"01943"	"PDE6A_000019"	"g.149301207C>T"	""	""	""	"PDE6A(NM_000440.2):c.924G>A (p.P308=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149921644C>T"	""	"likely benign"	""
"0000339463"	"0"	"10"	"5"	"149242764"	"149242764"	"subst"	"0.0118732"	"02327"	"PDE6A_000029"	"g.149242764C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149863201C>T"	""	"benign"	""
"0000339464"	"0"	"10"	"5"	"149245754"	"149245754"	"subst"	"0.0541938"	"02327"	"PDE6A_000030"	"g.149245754A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149866191A>G"	""	"benign"	""
"0000339465"	"0"	"10"	"5"	"149323772"	"149323772"	"subst"	"0.201674"	"02327"	"PDE6A_000045"	"g.149323772G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944209G>A"	""	"benign"	""
"0000339466"	"0"	"10"	"5"	"149323906"	"149323906"	"subst"	"0.209065"	"02327"	"PDE6A_000046"	"g.149323906T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944343T>G"	""	"benign"	""
"0000341312"	"0"	"50"	"5"	"149310665"	"149310665"	"subst"	"0.000637848"	"02327"	"PDE6A_000043"	"g.149310665C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149931102C>T"	""	"VUS"	""
"0000341669"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"2.84361E-5"	"02327"	"PDE6A_000047"	"g.149323933G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944370G>A"	""	"likely pathogenic"	""
"0000342440"	"0"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"02327"	"PDE6A_000003"	"g.149310680G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	""
"0000343653"	"0"	"10"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"02327"	"PDE6A_000044"	"g.149313563T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149934000T>C"	""	"benign"	""
"0000344060"	"0"	"50"	"5"	"149294545"	"149294545"	"subst"	"0"	"02327"	"PDE6A_000041"	"g.149294545T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149914982T>C"	""	"VUS"	""
"0000344904"	"0"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"02327"	"PDE6A_000001"	"g.149274769G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	""
"0000345003"	"0"	"90"	"5"	"149323969"	"149323969"	"subst"	"0"	"02327"	"PDE6A_000049"	"g.149323969G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944406G>A"	""	"pathogenic"	""
"0000345527"	"0"	"50"	"5"	"149263002"	"149263002"	"subst"	"0.000227631"	"02327"	"PDE6A_000032"	"g.149263002C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149883439C>T"	""	"VUS"	""
"0000346510"	"0"	"10"	"5"	"149264106"	"149264106"	"subst"	"0.0158209"	"02327"	"PDE6A_000034"	"g.149264106G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149884543G>A"	""	"benign"	""
"0000348955"	"0"	"70"	"5"	"149286908"	"149286908"	"subst"	"0"	"02327"	"PDE6A_000039"	"g.149286908G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149907345G>T"	""	"likely pathogenic"	""
"0000350023"	"0"	"90"	"5"	"149324153"	"149324153"	"subst"	"0"	"02327"	"PDE6A_000050"	"g.149324153G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149944590G>C"	""	"pathogenic"	""
"0000350144"	"0"	"90"	"5"	"149265917"	"149265917"	"subst"	"0"	"02327"	"PDE6A_000035"	"g.149265917G>C"	""	""	""	"PDE6A(NM_000440.3):c.1749C>G (p.Y583*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149886354G>C"	""	"pathogenic"	""
"0000350145"	"0"	"50"	"5"	"149265919"	"149265919"	"subst"	"0"	"02327"	"PDE6A_000014"	"g.149265919A>T"	""	""	""	"PDE6A(NM_000440.3):c.1747T>A (p.Y583N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149886356A>T"	""	"VUS"	""
"0000350711"	"0"	"50"	"5"	"149274862"	"149274862"	"subst"	"8.12381E-6"	"02327"	"PDE6A_000036"	"g.149274862A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149895299A>T"	""	"VUS"	""
"0000350728"	"0"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"02327"	"PDE6A_000037"	"g.149277925C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149898362C>G"	""	"pathogenic"	""
"0000350927"	"0"	"10"	"5"	"149247738"	"149247738"	"subst"	"0.052684"	"02327"	"PDE6A_000031"	"g.149247738C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149868175C>A"	""	"benign"	""
"0000350928"	"0"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"02327"	"PDE6A_000040"	"g.149294505C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	""
"0000358304"	"3"	"90"	"5"	"149263038"	"149263042"	"del"	"0"	"01243"	"PDE6A_000051"	"g.149263038_149263042del"	""	"Sharon, submitted"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000358305"	"3"	"90"	"5"	"149264109"	"149264109"	"subst"	"0"	"01243"	"PDE6A_000052"	"g.149264109G>A"	""	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149884546G>A"	""	"pathogenic (recessive)"	""
"0000358306"	"3"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"01243"	"PDE6A_000053"	"g.149264112G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	""
"0000358307"	"3"	"90"	"5"	"149323828"	"149323828"	"del"	"0"	"01243"	"PDE6A_000054"	"g.149323828delinsCT"	""	"Sharon, submitted"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000476426"	"0"	"50"	"5"	"149240507"	"149240507"	"subst"	"8.13326E-6"	"02591"	"PDE6A_000055"	"g.149240507T>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs765192034"	"0"	""	""	"g.149860944T>A"	""	"VUS"	""
"0000476427"	"0"	"50"	"5"	"149240529"	"149240529"	"subst"	"4.88774E-5"	"02591"	"PDE6A_000008"	"g.149240529C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs778365507"	"0"	""	""	"g.149860966C>T"	""	"VUS"	""
"0000476428"	"0"	"50"	"5"	"149245753"	"149245753"	"subst"	"0"	"02591"	"PDE6A_000056"	"g.149245753C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149866190C>T"	""	"VUS"	""
"0000476429"	"0"	"50"	"5"	"149264058"	"149264058"	"subst"	"0"	"02591"	"PDE6A_000057"	"g.149264058G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149884495G>A"	""	"VUS"	""
"0000476430"	"0"	"50"	"5"	"149264103"	"149264103"	"subst"	"0"	"02591"	"PDE6A_000058"	"g.149264103C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149884540C>T"	""	"VUS"	""
"0000476431"	"0"	"50"	"5"	"149264115"	"149264115"	"subst"	"0.00022371"	"02591"	"PDE6A_000059"	"g.149264115G>A"	"18/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs199748187"	"0"	""	""	"g.149884552G>A"	""	"VUS"	""
"0000476432"	"0"	"50"	"5"	"149264133"	"149264133"	"subst"	"0.000240128"	"02591"	"PDE6A_000060"	"g.149264133T>C"	"6/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs147047715"	"0"	""	""	"g.149884570T>C"	""	"VUS"	""
"0000476433"	"0"	"50"	"5"	"149265921"	"149265921"	"subst"	"9.34511E-5"	"02591"	"PDE6A_000061"	"g.149265921C>T"	"8/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs77760924"	"0"	""	""	"g.149886358C>T"	""	"VUS"	""
"0000476434"	"3"	"90"	"5"	"149274790"	"149274790"	"subst"	"1.21842E-5"	"02591"	"PDE6A_000062"	"g.149274790G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs759589388"	"0"	""	""	"g.149895227G>A"	""	"pathogenic"	""
"0000476435"	"0"	"50"	"5"	"149276004"	"149276004"	"subst"	"2.43704E-5"	"02591"	"PDE6A_000063"	"g.149276004G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs767935782"	"0"	""	""	"g.149896441G>A"	""	"VUS"	""
"0000476436"	"3"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"02591"	"PDE6A_000037"	"g.149277925C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs781616522"	"0"	""	""	"g.149898362C>G"	""	"pathogenic"	""
"0000476437"	"0"	"50"	"5"	"149277984"	"149277984"	"subst"	"0.000146407"	"02591"	"PDE6A_000064"	"g.149277984A>G"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs185588836"	"0"	""	""	"g.149898421A>G"	""	"VUS"	""
"0000476438"	"0"	"90"	"5"	"149286908"	"149286908"	"subst"	"0.000264004"	"02591"	"PDE6A_000065"	"g.149286908G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs121918577"	"0"	""	""	"g.149907345G>A"	""	"pathogenic"	""
"0000476439"	"0"	"50"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"02591"	"PDE6A_000021"	"g.149301253G>A"	"16/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs114973968"	"0"	""	""	"g.149921690G>A"	""	"VUS"	""
"0000476440"	"0"	"90"	"5"	"149310665"	"149310665"	"subst"	"0.000637848"	"02591"	"PDE6A_000043"	"g.149310665C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs148938083"	"0"	""	""	"g.149931102C>T"	""	"pathogenic"	""
"0000476441"	"0"	"50"	"5"	"149310716"	"149310716"	"subst"	"0"	"02591"	"PDE6A_000066"	"g.149310716C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149931153C>T"	""	"VUS"	""
"0000476442"	"0"	"50"	"5"	"149323765"	"149323765"	"subst"	"0"	"02591"	"PDE6A_000067"	"g.149323765C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149944202C>T"	""	"VUS"	""
"0000476443"	"0"	"50"	"5"	"149323921"	"149323921"	"subst"	"0.000207179"	"02591"	"PDE6A_000068"	"g.149323921C>T"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs200696413"	"0"	""	""	"g.149944358C>T"	""	"VUS"	""
"0000476444"	"0"	"50"	"5"	"149324041"	"149324041"	"subst"	"0.000248008"	"02591"	"PDE6A_000069"	"g.149324041G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs149945348"	"0"	""	""	"g.149944478G>A"	""	"VUS"	""
"0000477488"	"3"	"50"	"5"	"149264115"	"149264115"	"subst"	"0.00022371"	"02591"	"PDE6A_000059"	"g.149264115G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs199748187"	"0"	""	""	"g.149884552G>A"	""	"VUS"	""
"0000477489"	"3"	"50"	"5"	"149324041"	"149324041"	"subst"	"0.000248008"	"02591"	"PDE6A_000069"	"g.149324041G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs149945348"	"0"	""	""	"g.149944478G>A"	""	"VUS"	""
"0000487570"	"3"	"90"	"5"	"149245789"	"149245789"	"subst"	"4.46733E-5"	"03335"	"PDE6A_000070"	"g.149245789C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149866226C>A"	""	"pathogenic (recessive)"	""
"0000524775"	"0"	"30"	"5"	"149240492"	"149240492"	"subst"	"0.00106482"	"02330"	"PDE6A_000007"	"g.149240492C>A"	""	""	""	"PDE6A(NM_000440.2):c.2549G>T (p.G850V), PDE6A(NM_000440.3):c.2549G>T (p.G850V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149860929C>A"	""	"likely benign"	""
"0000524776"	"0"	"10"	"5"	"149240549"	"149240549"	"subst"	"1.63968E-5"	"02330"	"PDE6A_000071"	"g.149240549G>A"	""	""	""	"PDE6A(NM_000440.3):c.2507-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149860986G>A"	""	"benign"	""
"0000524777"	"0"	"90"	"5"	"149242685"	"149242697"	"del"	"0"	"01943"	"PDE6A_000072"	"g.149242685_149242697del"	""	""	""	"PDE6A(NM_000440.2):c.2494_2506delTCGGCCAAGTCAG (p.S832Qfs*56)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149863122_149863134del"	""	"pathogenic"	""
"0000524778"	"0"	"30"	"5"	"149242712"	"149242714"	"del"	"0"	"02330"	"PDE6A_000073"	"g.149242712_149242714del"	""	""	""	"PDE6A(NM_000440.3):c.2479_2481delAAG (p.K827del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149863149_149863151del"	""	"likely benign"	""
"0000524779"	"0"	"10"	"5"	"149245790"	"149245790"	"subst"	"0.0015433"	"02330"	"PDE6A_000009"	"g.149245790A>G"	""	""	""	"PDE6A(NM_000440.2):c.2301T>C (p.D767=), PDE6A(NM_000440.3):c.2301T>C (p.D767=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149866227A>G"	""	"benign"	""
"0000524780"	"0"	"50"	"5"	"149245821"	"149245821"	"subst"	"0"	"02327"	"PDE6A_000074"	"g.149245821C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149866258C>T"	""	"VUS"	""
"0000524781"	"0"	"50"	"5"	"149247310"	"149247310"	"subst"	"0.000122043"	"02330"	"PDE6A_000075"	"g.149247310G>A"	""	""	""	"PDE6A(NM_000440.3):c.2252C>T (p.T751M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149867747G>A"	""	"VUS"	""
"0000524782"	"0"	"30"	"5"	"149247373"	"149247373"	"del"	"8.20075E-6"	"02330"	"PDE6A_000076"	"g.149247373del"	""	""	""	"PDE6A(NM_000440.3):c.2200-11delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149867810del"	""	"likely benign"	""
"0000524783"	"0"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"02330"	"PDE6A_000033"	"g.149263074C>T"	""	""	""	"PDE6A(NM_000440.3):c.2053G>A (p.V685M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000524784"	"0"	"50"	"5"	"149263087"	"149263087"	"subst"	"0"	"01943"	"PDE6A_000077"	"g.149263087C>G"	""	""	""	"PDE6A(NM_000440.2):c.2040G>C (p.M680I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149883524C>G"	""	"VUS"	""
"0000524785"	"0"	"50"	"5"	"149264117"	"149264117"	"subst"	"0.00122434"	"02330"	"PDE6A_000078"	"g.149264117T>C"	""	""	""	"PDE6A(NM_000440.3):c.1952A>G (p.N651S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149884554T>C"	""	"VUS"	""
"0000524786"	"0"	"50"	"5"	"149265922"	"149265922"	"subst"	"0.000203156"	"02327"	"PDE6A_000079"	"g.149265922G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149886359G>A"	""	"VUS"	""
"0000524787"	"0"	"50"	"5"	"149275960"	"149275960"	"subst"	"0"	"01943"	"PDE6A_000080"	"g.149275960A>G"	""	""	""	"PDE6A(NM_000440.2):c.1579T>C (p.Y527H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149896397A>G"	""	"VUS"	""
"0000524788"	"0"	"50"	"5"	"149275963"	"149275963"	"subst"	"4.06171E-6"	"02327"	"PDE6A_000081"	"g.149275963A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149896400A>G"	""	"VUS"	""
"0000524789"	"0"	"30"	"5"	"149275993"	"149275993"	"subst"	"0.000722937"	"02330"	"PDE6A_000082"	"g.149275993G>C"	""	""	""	"PDE6A(NM_000440.3):c.1546C>G (p.L516V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149896430G>C"	""	"likely benign"	""
"0000524791"	"0"	"30"	"5"	"149276077"	"149276077"	"subst"	"0"	"02330"	"PDE6A_000084"	"g.149276077A>G"	""	""	""	"PDE6A(NM_000440.3):c.1474-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149896514A>G"	""	"likely benign"	""
"0000524792"	"0"	"10"	"5"	"149278085"	"149278085"	"subst"	"8.29387E-6"	"02330"	"PDE6A_000085"	"g.149278085A>T"	""	""	""	"PDE6A(NM_000440.3):c.1264-16T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149898522A>T"	""	"benign"	""
"0000524793"	"0"	"30"	"5"	"149283238"	"149283238"	"subst"	"0.0041178"	"01943"	"PDE6A_000086"	"g.149283238C>T"	""	""	""	"PDE6A(NM_000440.2):c.1086G>A (p.A362=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149903675C>T"	""	"likely benign"	""
"0000524794"	"0"	"30"	"5"	"149301213"	"149301213"	"subst"	"0.000312723"	"02330"	"PDE6A_000087"	"g.149301213C>T"	""	""	""	"PDE6A(NM_000440.3):c.918G>A (p.R306=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149921650C>T"	""	"likely benign"	""
"0000524795"	"0"	"30"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"02330"	"PDE6A_000088"	"g.149301223G>C"	""	""	""	"PDE6A(NM_000440.2):c.908C>G (p.S303C), PDE6A(NM_000440.3):c.908C>G (p.S303C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149921660G>C"	""	"likely benign"	""
"0000524796"	"0"	"30"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"01943"	"PDE6A_000088"	"g.149301223G>C"	""	""	""	"PDE6A(NM_000440.2):c.908C>G (p.S303C), PDE6A(NM_000440.3):c.908C>G (p.S303C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149921660G>C"	""	"likely benign"	""
"0000524797"	"0"	"30"	"5"	"149310740"	"149310740"	"dup"	"0"	"02330"	"PDE6A_000089"	"g.149310740dup"	""	""	""	"PDE6A(NM_000440.2):c.718-4dupT, PDE6A(NM_000440.3):c.718-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149931177dup"	""	"likely benign"	""
"0000524798"	"0"	"30"	"5"	"149310740"	"149310740"	"dup"	"0"	"01943"	"PDE6A_000089"	"g.149310740dup"	""	""	""	"PDE6A(NM_000440.2):c.718-4dupT, PDE6A(NM_000440.3):c.718-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149931177dup"	""	"likely benign"	""
"0000524799"	"0"	"50"	"5"	"149323840"	"149323840"	"subst"	"2.84336E-5"	"02330"	"PDE6A_000090"	"g.149323840C>T"	""	""	""	"PDE6A(NM_000440.3):c.397G>A (p.V133I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944277C>T"	""	"VUS"	""
"0000524800"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"02330"	"PDE6A_000048"	"g.149323933G>T"	""	""	""	"PDE6A(NM_000440.2):c.304C>A (p.R102S), PDE6A(NM_000440.3):c.304C>A (p.R102S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000524801"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"01943"	"PDE6A_000048"	"g.149323933G>T"	""	""	""	"PDE6A(NM_000440.2):c.304C>A (p.R102S), PDE6A(NM_000440.3):c.304C>A (p.R102S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000524802"	"0"	"50"	"5"	"149324063"	"149324063"	"subst"	"2.84495E-5"	"02330"	"PDE6A_000091"	"g.149324063G>T"	""	""	""	"PDE6A(NM_000440.3):c.174C>A (p.S58R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944500G>T"	""	"VUS"	""
"0000524803"	"0"	"50"	"5"	"149324134"	"149324134"	"subst"	"0.000166587"	"01943"	"PDE6A_000092"	"g.149324134C>T"	""	""	""	"PDE6A(NM_000440.2):c.103G>A (p.D35N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944571C>T"	""	"VUS"	""
"0000524804"	"0"	"50"	"5"	"149324152"	"149324152"	"subst"	"9.7557E-5"	"01943"	"PDE6A_000093"	"g.149324152G>A"	""	""	""	"PDE6A(NM_000440.2):c.85C>T (p.R29W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944589G>A"	""	"VUS"	""
"0000609567"	"0"	"50"	"5"	"149265864"	"149265864"	"subst"	"4.06164E-6"	"01943"	"PDE6A_000094"	"g.149265864A>G"	""	""	""	"PDE6A(NM_000440.2):c.1802T>C (p.I601T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149886301A>G"	""	"VUS"	""
"0000609568"	"0"	"30"	"5"	"149276261"	"149276261"	"subst"	"0.000109674"	"02330"	"PDE6A_000095"	"g.149276261C>T"	""	""	""	"PDE6A(NM_000440.3):c.1473+13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149896698C>T"	""	"likely benign"	""
"0000609569"	"0"	"10"	"5"	"149314258"	"149314258"	"subst"	"0.00274529"	"02330"	"PDE6A_000024"	"g.149314258C>T"	""	""	""	"PDE6A(NM_000440.2):c.498G>A (p.V166=), PDE6A(NM_000440.3):c.498G>A (p.V166=, p.(Val166=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149934695C>T"	""	"benign"	""
"0000609570"	"0"	"30"	"5"	"149324060"	"149324060"	"subst"	"0.00250339"	"02330"	"PDE6A_000026"	"g.149324060T>C"	""	""	""	"PDE6A(NM_000440.2):c.177A>G (p.E59=), PDE6A(NM_000440.3):c.177A>G (p.E59=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149944497T>C"	""	"likely benign"	""
"0000621504"	"0"	"10"	"5"	"149301194"	"149301194"	"subst"	"0.00123078"	"02330"	"PDE6A_000096"	"g.149301194G>A"	""	""	""	"PDE6A(NM_000440.3):c.933+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149921631G>A"	""	"benign"	""
"0000651647"	"1"	"30"	"5"	"149242788"	"149242788"	"subst"	"0.0475887"	"03575"	"PDE6A_000097"	"g.149242788G>A"	"198/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"198 heterozygous; {DB:CLININrs4705390}"	"Germline"	""	"rs4705390"	"0"	""	""	"g.149863225G>A"	""	"likely benign"	""
"0000651648"	"1"	"10"	"5"	"149264106"	"149264106"	"subst"	"0.0158209"	"03575"	"PDE6A_000034"	"g.149264106G>A"	"12/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"12 heterozygous, no homozygous; {DB:CLININrs78775072}"	"Germline"	""	"rs78775072"	"0"	""	""	"g.149884543G>A"	""	"benign"	""
"0000651650"	"1"	"10"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"03575"	"PDE6A_000021"	"g.149301253G>A"	"12/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"12 heterozygous, no homozygous; {DB:CLININrs114973968}"	"Germline"	""	"rs114973968"	"0"	""	""	"g.149921690G>A"	""	"benign"	""
"0000655326"	"0"	"50"	"5"	"149263091"	"149263091"	"subst"	"7.75131E-5"	"01943"	"PDE6A_000098"	"g.149263091G>C"	""	""	""	"PDE6A(NM_000440.2):c.2036C>G (p.T679R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149883528G>C"	""	"VUS"	""
"0000655327"	"0"	"30"	"5"	"149265912"	"149265912"	"subst"	"5.28163E-5"	"02327"	"PDE6A_000099"	"g.149265912G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149886349G>A"	""	"likely benign"	""
"0000663589"	"1"	"30"	"5"	"149310740"	"149310740"	"dup"	"0"	"00006"	"PDE6A_000089"	"g.149310740dup"	""	"{PMID:Arno 2017:28132693}"	""	""	"heterozygous variant only"	"Germline"	""	""	"0"	""	""	"g.149931177dup"	""	"VUS"	""
"0000669837"	"3"	"30"	"5"	"149242788"	"149242788"	"subst"	"0.0475887"	"03575"	"PDE6A_000097"	"g.149242788G>A"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 homozygous; {DB:CLININrs4705390}"	"Germline"	""	"rs4705390"	"0"	""	""	"g.149863225G>A"	""	"likely benign"	""
"0000684547"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00004"	"PDE6A_000048"	"g.149323933G>T"	"2/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000684548"	"1"	"90"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"00004"	"PDE6A_000044"	"g.149313563T>C"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000684549"	"1"	"70"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"00004"	"PDE6A_000021"	"g.149301253G>A"	"3/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000684636"	"3"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00004"	"PDE6A_000102"	"g.149323932C>T"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000684670"	"1"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00004"	"PDE6A_000037"	"g.149277925C>G"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000684671"	"1"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00004"	"PDE6A_000037"	"g.149277925C>G"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000684704"	"2"	"70"	"5"	"149278050"	"149278050"	"subst"	"8.15594E-6"	"00004"	"PDE6A_000101"	"g.149278050C>T"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000684705"	"2"	"70"	"5"	"149278050"	"149278050"	"subst"	"8.15594E-6"	"00004"	"PDE6A_000101"	"g.149278050C>T"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685339"	"0"	"90"	"5"	"149242681"	"149242681"	"subst"	"0"	"00004"	"PDE6A_000100"	"g.149242681C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685340"	"0"	"90"	"5"	"149263042"	"149263046"	"del"	"0"	"00004"	"PDE6A_000051"	"g.149263042_149263046del"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685342"	"0"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00004"	"PDE6A_000053"	"g.149264112G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685343"	"0"	"70"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"00004"	"PDE6A_000088"	"g.149301223G>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685344"	"0"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00004"	"PDE6A_000003"	"g.149310680G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685345"	"0"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00004"	"PDE6A_000003"	"g.149310680G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685346"	"0"	"90"	"5"	"149323828"	"149323828"	"delins"	"0"	"00004"	"PDE6A_000054"	"g.149323828delinsAG"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685347"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00004"	"PDE6A_000048"	"g.149323933G>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000686110"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00006"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Bocquet 2013:24339724}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic (recessive)"	""
"0000689458"	"0"	"50"	"5"	"149247314"	"149247314"	"subst"	"5.28709E-5"	"02325"	"PDE6A_000103"	"g.149247314G>A"	""	""	""	"PDE6A(NM_000440.3):c.2248C>T (p.R750C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000689459"	"0"	"90"	"5"	"149276339"	"149276339"	"subst"	"0"	"01943"	"PDE6A_000104"	"g.149276339T>A"	""	""	""	"PDE6A(NM_000440.2):c.1408A>T (p.K470*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000689460"	"0"	"30"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"02325"	"PDE6A_000021"	"g.149301253G>A"	""	""	""	"PDE6A(NM_000440.3):c.878C>T (p.P293L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000710299"	"3"	"90"	"5"	"149245789"	"149245789"	"subst"	"4.46733E-5"	"00006"	"PDE6A_000070"	"g.149245789C>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PVS1, PM2, PP1, PP4"	"Germline"	""	""	"0"	""	""	"g.149866226C>A"	""	"pathogenic"	"ACMG"
"0000710316"	"1"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00006"	"PDE6A_000001"	"g.149274769G>T"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	""
"0000710362"	"2"	"90"	"5"	"149274790"	"149274790"	"subst"	"1.21842E-5"	"00006"	"PDE6A_000062"	"g.149274790G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149895227G>A"	""	"pathogenic"	""
"0000710801"	"0"	"70"	"5"	"149264133"	"149264133"	"subst"	"0.000240128"	"00006"	"PDE6A_000060"	"g.149264133T>C"	""	"{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}"	""	"A1936G"	""	"Germline"	""	"rs147047715"	"0"	""	""	""	""	"likely pathogenic"	""
"0000713246"	"3"	"90"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00000"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Carss 2017:28041643}"	""	"5:149274844G>A ENST00000255266.5:c.1630C>T (Arg544Trp)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713258"	"0"	"90"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00000"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Carss 2017:28041643}"	""	"5:149274844G>A ENST00000255266.5:c.1630C>T (Arg544Trp)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713396"	"3"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Carss 2017:28041643}"	""	"5:149264112G>A ENST00000255266.5:c.1957C>T (Arg653Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713594"	"3"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Carss 2017:28041643}"	""	"5:149264112G>A ENST00000255266.5:c.1957C>T (Arg653Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713688"	"0"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Carss 2017:28041643}"	""	"5:149310680G>A ENST00000255266.5:c.769C>T (Arg257Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000720264"	"0"	"30"	"5"	"149323781"	"149323781"	"subst"	"0.000134366"	"01943"	"PDE6A_000106"	"g.149323781G>A"	""	""	""	"PDE6A(NM_000440.2):c.456C>T (p.N152=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720265"	"0"	"50"	"5"	"149324041"	"149324041"	"subst"	"0.000248008"	"01943"	"PDE6A_000069"	"g.149324041G>A"	""	""	""	"PDE6A(NM_000440.2):c.196C>T (p.R66W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000731000"	"1"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs139444207"	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic (recessive)"	""
"0000731066"	"2"	"70"	"5"	"149275917"	"149275917"	"subst"	"4.06326E-6"	"00000"	"PDE6A_000107"	"g.149275917A>T"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149896354A>T"	""	"likely pathogenic (recessive)"	""
"0000732663"	"1"	"70"	"5"	"149264037"	"149264037"	"subst"	"0"	"00000"	"PDE6A_000108"	"g.149264037C>A"	""	"{PMID:Soens 2017:28714225}"	""	""	"effect on splicing predicted from mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.149884474C>A"	""	"likely pathogenic"	""
"0000732699"	"2"	"70"	"5"	"149264103"	"149264103"	"subst"	"4.0655E-6"	"00000"	"PDE6A_000109"	"g.149264103C>A"	""	"{PMID:Soens 2017:28714225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149884540C>A"	""	"likely pathogenic"	""
"0000735164"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000735832"	"3"	"70"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00000"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149895281G>A"	""	"likely pathogenic"	""
"0000735833"	"3"	"70"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00000"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149895281G>A"	""	"likely pathogenic"	""
"0000735840"	"1"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149944369C>T"	""	"likely pathogenic"	""
"0000735860"	"2"	"70"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149898504del"	""	"likely pathogenic"	""
"0000760080"	"0"	"50"	"5"	"149264342"	"149264342"	"subst"	"4.06306E-6"	"00000"	"PDE6A_000112"	"g.149264342C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149884779C>T"	""	"VUS"	""
"0000760346"	"0"	"50"	"5"	"149323870"	"149323870"	"subst"	"0.00038589"	"00000"	"PDE6A_000113"	"g.149323870C>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149944307C>A"	""	"VUS"	""
"0000760500"	"0"	"50"	"5"	"149263008"	"149263008"	"subst"	"6.90978E-5"	"00000"	"PDE6A_000111"	"g.149263008G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149883445G>A"	""	"VUS"	""
"0000764039"	"1"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000764055"	"3"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000764065"	"2"	"70"	"5"	"149275918"	"149275918"	"subst"	"0"	"00000"	"PDE6A_000114"	"g.149275918C>A"	""	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149896355C>A"	""	"likely pathogenic"	""
"0000765645"	"3"	"70"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Yang 2015:26496393}"	""	"1268delT"	"not in 100 controls"	"Germline"	""	""	"0"	""	""	"g.149898504del"	""	"likely pathogenic (recessive)"	""
"0000784140"	"0"	"70"	"5"	"149264115"	"149264115"	"subst"	"0.00022371"	"00000"	"PDE6A_000059"	"g.149264115G>A"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs199748187"	"0"	""	""	"g.149884552G>A"	""	"likely pathogenic (recessive)"	""
"0000784217"	"1"	"90"	"5"	"149247659"	"149247659"	"delins"	"0"	"00000"	"PDE6A_000115"	"g.149247659delinsCC"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149868096delinsCC"	""	"pathogenic (recessive)"	""
"0000784249"	"0"	"70"	"5"	"149264133"	"149264133"	"subst"	"0.000240128"	"00000"	"PDE6A_000060"	"g.149264133T>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs147047715"	"0"	""	""	"g.149884570T>C"	""	"likely pathogenic (recessive)"	""
"0000784276"	"0"	"70"	"5"	"149247313"	"149247313"	"subst"	"0.000219628"	"00000"	"PDE6A_000010"	"g.149247313C>T"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs146145709"	"0"	""	""	"g.149867750C>T"	""	"likely pathogenic (recessive)"	""
"0000784346"	"0"	"70"	"5"	"149264115"	"149264115"	"subst"	"0.00022371"	"00000"	"PDE6A_000059"	"g.149264115G>A"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs199748187"	"0"	""	""	"g.149884552G>A"	""	"likely pathogenic (recessive)"	""
"0000784366"	"0"	"70"	"5"	"149247313"	"149247313"	"subst"	"0.000219628"	"00000"	"PDE6A_000010"	"g.149247313C>T"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs146145709"	"0"	""	""	"g.149867750C>T"	""	"likely pathogenic (recessive)"	""
"0000784389"	"0"	"70"	"5"	"149264133"	"149264133"	"subst"	"0.000240128"	"00000"	"PDE6A_000060"	"g.149264133T>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs147047715"	"0"	""	""	"g.149884570T>C"	""	"likely pathogenic (recessive)"	""
"0000784391"	"0"	"70"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"00000"	"PDE6A_000116"	"g.149275918C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149896355C>T"	""	"likely pathogenic (recessive)"	""
"0000784464"	"0"	"50"	"5"	"149323780"	"149323780"	"subst"	"4.47916E-5"	"00000"	"PDE6A_000117"	"g.149323780C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149944217C>T"	""	"VUS"	""
"0000784584"	"2"	"90"	"5"	"149247659"	"149247659"	"delins"	"0"	"00000"	"PDE6A_000115"	"g.149247659delinsCC"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149868096delinsCC"	""	"pathogenic (recessive)"	""
"0000785377"	"3"	"90"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00006"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000785464"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Maria 2015:25775262}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic (recessive)"	""
"0000786462"	"1"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic (recessive)"	""
"0000786501"	"2"	"90"	"5"	"149277997"	"149277997"	"del"	"0"	"00000"	"PDE6A_000118"	"g.149277997del"	""	"{PMID:Consugar 2015:25412400}"	""	"1336delA"	""	"Germline"	""	""	"0"	""	""	"g.149898434del"	""	"pathogenic (recessive)"	""
"0000787635"	"3"	"70"	"5"	"149323880"	"149323880"	"del"	"0"	"00000"	"PDE6A_000119"	"g.149323880del"	""	"{PMID:Huang 2015:25356976}"	""	"357delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.149944317del"	""	"likely pathogenic"	""
"0000788475"	"0"	"50"	"5"	"149264115"	"149264115"	"subst"	"0.00022371"	"00000"	"PDE6A_000059"	"g.149264115G>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"C1954T"	""	"Germline"	""	"rs199748187"	"0"	""	""	"g.149884552G>A"	""	"VUS"	""
"0000790504"	"0"	"50"	"5"	"149264106"	"149264106"	"subst"	"0.0158209"	"00000"	"PDE6A_000034"	"g.149264106G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs78775072"	"0"	""	""	"g.149884543G>A"	""	"VUS"	""
"0000790567"	"0"	"50"	"5"	"149240492"	"149240492"	"subst"	"0.00106482"	"00000"	"PDE6A_000007"	"g.149240492C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs138315990"	"0"	""	""	"g.149860929C>A"	""	"VUS"	""
"0000790642"	"0"	"50"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"00000"	"PDE6A_000021"	"g.149301253G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs114973968"	"0"	""	""	"g.149921690G>A"	""	"VUS"	""
"0000792049"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.304C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792050"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.998+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792051"	"3"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.1705C>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000792089"	"3"	"90"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.305G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792090"	"3"	"90"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.305G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792223"	"3"	"90"	"5"	"149274799"	"149274799"	"subst"	"0"	"00000"	"PDE6A_000120"	"g.149274799G>T"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1675C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792224"	"3"	"90"	"5"	"149274799"	"149274799"	"subst"	"0"	"00000"	"PDE6A_000120"	"g.149274799G>T"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1675C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793731"	"3"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Collin-2011:21217109}"	""	"c.305G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793732"	"3"	"70"	"5"	"149279035"	"149279035"	"subst"	"8.12334E-6"	"00000"	"PDE6A_000121"	"g.149279035G>A"	"0/360 controls"	"{PMID:Collin-2011:21217109}"	""	"c.1166C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793748"	"0"	"10"	"5"	"149264106"	"149264106"	"subst"	"0.0158209"	"00000"	"PDE6A_000034"	"g.149264106G>A"	"2.60% in 360 controls"	"{PMID:Simpson-2011:21147909}"	""	"c.1963C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000794342"	"0"	"70"	"5"	"149274789"	"149274789"	"subst"	"2.84294E-5"	"00000"	"PDE6A_000124"	"g.149274789C>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000440.2:c.1685G>A, NP_000431.2:p.(Arg562Gln), NC_000005.9:g.149274789C>T"	""	"Germline"	"?"	""	"0"	""	""	"g.149895226C>T"	""	"likely pathogenic"	"ACMG"
"0000794343"	"0"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000440.2:c.1407+1G>C, NP_000431.2:p.?, NC_000005.9:g.149277925C>G"	""	"Germline"	"?"	""	"0"	""	""	"g.149898362C>G"	""	"pathogenic"	"ACMG"
"0000794344"	"0"	"70"	"5"	"149274823"	"149274823"	"subst"	"0"	"00000"	"PDE6A_000125"	"g.149274823T>C"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000440.2:c.1651A>G, NP_000431.2:p.(Lys551Glu), NC_000005.9:g.149274823T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.149895260T>C"	""	"likely pathogenic"	"ACMG"
"0000794345"	"0"	"70"	"5"	"149323952"	"149323952"	"subst"	"0"	"00000"	"PDE6A_000126"	"g.149323952G>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000440.2:c.285C>A, NP_000431.2:p.(Ser95Arg), NC_000005.9:g.149323952G>T"	""	"Germline"	"?"	""	"0"	""	""	"g.149944389G>T"	""	"likely pathogenic"	"ACMG"
"0000794346"	"0"	"90"	"5"	"149245818"	"149245818"	"subst"	"0"	"00000"	"PDE6A_000123"	"g.149245818T>C"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000440.2:c.2275-2A>G, NP_000431.2:p.?, NC_000005.9:g.149245818T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.149866255T>C"	""	"pathogenic"	"ACMG"
"0000794347"	"0"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000440.2:c.1957C>T, NP_000431.2:p.(Arg653Ter), NC_000005.9:g.149264112G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	"ACMG"
"0000794755"	"0"	"70"	"5"	"149294556"	"149294556"	"subst"	"4.09199E-6"	"03508"	"PDE6A_000122"	"g.149294556G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000794756"	"0"	"70"	"5"	"149278050"	"149278050"	"subst"	"8.15594E-6"	"03508"	"PDE6A_000101"	"g.149278050C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794824"	"21"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_000440, c.1957C>T, p.Arg653Ter"	""	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000794825"	"10"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_000440, c.1705C>A, p.Gln569Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000794984"	"3"	"50"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.304C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000795061"	"3"	"90"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00000"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Khan-2013:23134348}"	""	"c.1630C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000795066"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Bocquet-2013:23350551}"	""	"c.769C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796242"	"3"	"90"	"5"	"149324032"	"149324032"	"subst"	"0"	"00000"	"PDE6A_000129"	"g.149324032G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.205C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796259"	"0"	"90"	"5"	"149245758"	"149245758"	"subst"	"0"	"00000"	"PDE6A_000127"	"g.149245758T>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.2333A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796260"	"0"	"90"	"5"	"149277970"	"149277970"	"subst"	"4.06673E-6"	"00000"	"PDE6A_000128"	"g.149277970T>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1363A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796714"	"0"	"70"	"5"	"149301208"	"149301208"	"subst"	"2.43694E-5"	"00000"	"PDE6A_000130"	"g.149301208G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.923C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796807"	"0"	"70"	"5"	"149323939"	"149323939"	"subst"	"0.000272185"	"00000"	"PDE6A_000131"	"g.149323939G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.298C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796858"	"0"	"70"	"5"	"149310665"	"149310665"	"subst"	"0.000637848"	"00000"	"PDE6A_000043"	"g.149310665C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.784G>A"	""	"Germline"	""	"rs148938083"	"0"	""	""	""	""	"likely pathogenic"	""
"0000797092"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Birtel 2018:30543658}"	""	"c.304C>A , p.Arg102Ser"	"Heterozygous"	"Germline"	"?"	"rs141252097"	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	"ACMG"
"0000797162"	"2"	"50"	"5"	"149262996"	"149262996"	"subst"	"1.62656E-5"	"00000"	"PDE6A_000133"	"g.149262996C>T"	""	"{PMID:Birtel 2018:30543658}"	""	"c.2131G>A, p.Val711Ile"	"Heterozygous"	"Germline"	""	"rs764962408"	"0"	""	""	"g.149883433C>T"	""	"VUS"	"ACMG"
"0000797163"	"1"	"70"	"5"	"149274785"	"149274785"	"subst"	"8.12288E-6"	"00000"	"PDE6A_000134"	"g.149274785G>T"	""	"{PMID:Birtel 2018:30543658}"	""	"c.1689C>A , p.His563Gln"	"Heterozygous"	"Germline"	""	"rs776918069"	"0"	""	""	"g.149895222G>T"	""	"likely pathogenic"	"ACMG"
"0000797686"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GPR98 c.4379-1G>A, p.(?), c.17195del, p.(Pro5732Leufs*54),, pDE6A c.304C>A, p.(Arg102Ser)"	""	"Germline"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	"ACMG"
"0000797709"	"0"	"90"	"5"	"149286886"	"149286886"	"subst"	"0"	"00000"	"PDE6A_000137"	"g.149286886G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1287G>A, p.(Trp429*), c.1054C>T, p.(Gln352*)"	""	"Germline"	"?"	""	"0"	""	""	"g.149907323G>A"	""	"pathogenic"	"ACMG"
"0000797710"	"0"	"90"	"5"	"149278046"	"149278046"	"subst"	"0"	"00000"	"PDE6A_000136"	"g.149278046C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1287G>A, p.(Trp429*), c.1054C>T, p.(Gln352*)"	""	"Germline"	"?"	""	"0"	""	""	"g.149898483C>T"	""	"pathogenic"	"ACMG"
"0000797711"	"3"	"70"	"5"	"149314145"	"149314145"	"del"	"0"	"00000"	"PDE6A_000139"	"g.149314145del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.612del, p.(Lys205Argfs*16), c.612del, p.(Lys205Argfs*16)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149934582del"	""	"likely pathogenic"	"ACMG"
"0000797712"	"0"	"70"	"5"	"149324236"	"149324236"	"subst"	"0"	"00000"	"PDE6A_000140"	"g.149324236T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1A>G, p.(Met1?), c.2332_2335del, p.(Asp778Leufs*42)"	""	"Germline"	"?"	""	"0"	""	""	"g.149944673T>C"	""	"likely pathogenic"	"ACMG"
"0000797713"	"0"	"90"	"5"	"149245757"	"149245760"	"del"	"0"	"00000"	"PDE6A_000132"	"g.149245757_149245760del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1A>G, p.(Met1?), c.2332_2335del, p.(Asp778Leufs*42)"	""	"Germline"	"?"	""	"0"	""	""	"g.149866194_149866197del"	""	"pathogenic"	"ACMG"
"0000797714"	"3"	"70"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"00000"	"PDE6A_000116"	"g.149275918C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1620+1G>A, p.(?), c.1620+1G>A, p.(?)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149896355C>T"	""	"likely pathogenic"	"ACMG"
"0000797715"	"3"	"70"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"00000"	"PDE6A_000116"	"g.149275918C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1620+1G>A, p.(?), c.1620+1G>A, p.(?)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149896355C>T"	""	"likely pathogenic"	"ACMG"
"0000797716"	"3"	"70"	"5"	"149314127"	"149314127"	"subst"	"0"	"00000"	"PDE6A_000138"	"g.149314127A>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.627+2T>G, p.(?), c.627+2T>G, p.(?)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149934564A>C"	""	"likely pathogenic"	"ACMG"
"0000797717"	"3"	"70"	"5"	"149277925"	"149277925"	"subst"	"8.13656E-6"	"00000"	"PDE6A_000135"	"g.149277925C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.1407+1G>A, p.(?), c.1407+1G>A, p.(?)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149898362C>T"	""	"likely pathogenic"	"ACMG"
"0000798041"	"0"	"70"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"00000"	"PDE6A_000021"	"g.149301253G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PDE6A c.878C>T, p.(Pro293Leu)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.149921690G>A"	""	"likely pathogenic"	"ACMG"
"0000801960"	"0"	"30"	"5"	"149240473"	"149240473"	"subst"	"0.000215337"	"01943"	"PDE6A_000141"	"g.149240473G>A"	""	""	""	"PDE6A(NM_000440.2):c.2568C>T (p.S856=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801961"	"0"	"90"	"5"	"149277953"	"149277953"	"subst"	"0"	"01943"	"PDE6A_000142"	"g.149277953A>T"	""	""	""	"PDE6A(NM_000440.2):c.1380T>A (p.C460*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000810849"	"3"	"10"	"5"	"149301335"	"149301335"	"subst"	"0"	"00000"	"PDE6A_000150"	"g.149301335T>C"	"0.33"	"{PMID:Anasagasti-2013:24416769}"	""	"c.859-63A>G"	""	"Germline"	"yes"	"rs11167487"	"0"	""	""	""	""	"benign (recessive)"	""
"0000810854"	"0"	"30"	"5"	"149264163"	"149264163"	"subst"	"0.0155765"	"00000"	"PDE6A_000145"	"g.149264163G>C"	"0.02"	"{PMID:Anasagasti-2013:24416769}"	""	"c.1927-21C>G"	""	"Germline"	"yes"	"rs75282782"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810857"	"0"	"30"	"5"	"149240571"	"149240571"	"subst"	"0.0554232"	"00000"	"PDE6A_000143"	"g.149240571A>T"	"0.1"	"{PMID:Anasagasti-2013:24416769}"	""	"c.2507-37T>A"	""	"Germline"	"yes"	"rs10045293"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810858"	"3"	"10"	"5"	"149301335"	"149301335"	"subst"	"0"	"00000"	"PDE6A_000150"	"g.149301335T>C"	"0.33"	"{PMID:Anasagasti-2013:24416769}"	""	"c.859-63A>G"	""	"Germline"	"yes"	"rs11167487"	"0"	""	""	""	""	"benign (recessive)"	""
"0000810863"	"0"	"50"	"5"	"149323870"	"149323870"	"subst"	"0.00038589"	"00000"	"PDE6A_000113"	"g.149323870C>A"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Asp123Tyr"	""	"Germline"	"yes"	"rs147010346"	"0"	""	""	""	""	"VUS"	""
"0000810865"	"0"	"50"	"5"	"149324278"	"149324278"	"subst"	"0.0067584"	"00000"	"PDE6A_000151"	"g.149324278G>A"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"c.-42C>T"	""	"Germline"	"yes"	"rs113137904"	"0"	""	""	""	""	"VUS"	""
"0000810867"	"0"	"50"	"5"	"149278948"	"149278948"	"subst"	"4.47045E-5"	"00000"	"PDE6A_000147"	"g.149278948G>A"	""	"{PMID:Anasagasti-2013:24416769}"	""	"p.Tre418Met"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""
"0000810871"	"0"	"50"	"5"	"149276063"	"149276063"	"subst"	"0"	"00000"	"PDE6A_000146"	"g.149276063T>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Gln492His"	""	"Germline"	"yes"	"rs17711594"	"0"	""	""	""	""	"VUS"	""
"0000810873"	"0"	"30"	"5"	"149247226"	"149247226"	"subst"	"0"	"00000"	"PDE6A_000214"	"g.149247226T>C"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.149247226T>C"	"Variant reference in error: T not found, found A instead."	"Germline"	"yes"	""	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810874"	"0"	"30"	"5"	"149247435"	"149247435"	"subst"	"0"	"00000"	"PDE6A_000144"	"g.149247435C>T"	"0.02"	"{PMID:Anasagasti-2013:24416769}"	""	"c.2200-73G>A"	""	"Germline"	"yes"	"rs72830272"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810880"	"0"	"50"	"5"	"149310665"	"149310665"	"subst"	"0.000637848"	"00000"	"PDE6A_000043"	"g.149310665C>T"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Ala262Thr"	""	"Germline"	"yes"	"rs14898083"	"0"	""	""	""	""	"VUS"	""
"0000810887"	"3"	"10"	"5"	"149301335"	"149301335"	"subst"	"0"	"00000"	"PDE6A_000150"	"g.149301335T>C"	"0.33"	"{PMID:Anasagasti-2013:24416769}"	""	"c.859-63A>G"	""	"Germline"	"yes"	"rs11167487"	"0"	""	""	""	""	"benign (recessive)"	""
"0000810888"	"0"	"30"	"5"	"149264106"	"149264106"	"subst"	"0.0158209"	"00000"	"PDE6A_000034"	"g.149264106G>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Hist655Tyr"	""	"Germline"	"yes"	"rs78775072"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810891"	"0"	"50"	"5"	"149276063"	"149276063"	"subst"	"0"	"00000"	"PDE6A_000146"	"g.149276063T>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Gln492His"	""	"Germline"	"yes"	"rs17711594"	"0"	""	""	""	""	"VUS"	""
"0000810893"	"3"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Anasagasti-2013:24416769}"	""	"p.Val685Met"	""	"Germline"	"yes"	"rs121909835"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000810894"	"3"	"70"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"00000"	"PDE6A_000021"	"g.149301253G>A"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Pro293Leu"	""	"Germline"	"yes"	"rs114973968"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000810899"	"0"	"30"	"5"	"149294495"	"149294495"	"subst"	"0.00393173"	"00000"	"PDE6A_000149"	"g.149294495G>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"c.998+11C>T"	""	"Germline"	"yes"	"rs75319698"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810900"	"0"	"30"	"5"	"149283315"	"149283315"	"subst"	"0"	"00000"	"PDE6A_000148"	"g.149283315T>C"	"0.03"	"{PMID:Anasagasti-2013:24416769}"	""	"c.1066-57A>G"	""	"Germline"	"yes"	"rs115072370"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810905"	"3"	"70"	"5"	"149301194"	"149301194"	"subst"	"0.00123078"	"00000"	"PDE6A_000096"	"g.149301194G>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"c.933+4C>T"	""	"Germline"	"yes"	"rs12109444"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000810906"	"0"	"10"	"5"	"149301335"	"149301335"	"subst"	"0"	"00000"	"PDE6A_000150"	"g.149301335T>C"	"0.33"	"{PMID:Anasagasti-2013:24416769}"	""	"c.859-63A>G"	""	"Germline"	"yes"	"rs11167487"	"0"	""	""	""	""	"benign (recessive)"	""
"0000810907"	"0"	"30"	"5"	"149247738"	"149247738"	"subst"	"0.052684"	"00000"	"PDE6A_000031"	"g.149247738C>A"	"0.09"	"{PMID:Anasagasti-2013:24416769}"	""	"c.2136-17G>T"	""	"Germline"	"yes"	"rs6864267"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810911"	"0"	"30"	"5"	"149240571"	"149240571"	"subst"	"0.0554232"	"00000"	"PDE6A_000143"	"g.149240571A>T"	"0.1"	"{PMID:Anasagasti-2013:24416769}"	""	"c.2507-37T>A"	""	"Germline"	"yes"	"rs10045293"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810918"	"3"	"70"	"5"	"149278098"	"149278103"	"del"	"0"	"00000"	"PDE6A_000215"	"g.149278098_149278103del"	"0.03"	"{PMID:Anasagasti-2013:24416769}"	""	"delCAGAGA"	""	"Germline"	"yes"	"rs34656337"	"0"	""	""	"g.149898535_149898540del"	""	"likely pathogenic (recessive)"	""
"0000810923"	"0"	"30"	"5"	"149240571"	"149240571"	"subst"	"0.0554232"	"00000"	"PDE6A_000143"	"g.149240571A>T"	"0.1"	"{PMID:Anasagasti-2013:24416769}"	""	"c.2507-37T>A"	""	"Germline"	"yes"	"rs10045293"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810926"	"0"	"30"	"5"	"149240571"	"149240571"	"subst"	"0.0554232"	"00000"	"PDE6A_000143"	"g.149240571A>T"	"0.1"	"{PMID:Anasagasti-2013:24416769}"	""	"c.2507-37T>A"	""	"Germline"	"yes"	"rs10045293"	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000810929"	"0"	"70"	"5"	"149301194"	"149301194"	"subst"	"0.00123078"	"00000"	"PDE6A_000096"	"g.149301194G>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"c.933+4C>T"	""	"Germline"	"yes"	"rs12109444"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000810930"	"0"	"10"	"5"	"149301335"	"149301335"	"subst"	"0"	"00000"	"PDE6A_000150"	"g.149301335T>C"	"0.33"	"{PMID:Anasagasti-2013:24416769}"	""	"c.859-63A>G"	""	"Germline"	"yes"	"rs11167487"	"0"	""	""	""	""	"benign (recessive)"	""
"0000810937"	"0"	"50"	"5"	"149324278"	"149324278"	"subst"	"0.0067584"	"00000"	"PDE6A_000151"	"g.149324278G>A"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"c.-42C>T"	""	"Germline"	"yes"	"rs113137904"	"0"	""	""	""	""	"VUS"	""
"0000810938"	"0"	"50"	"5"	"149276063"	"149276063"	"subst"	"0"	"00000"	"PDE6A_000146"	"g.149276063T>A"	"0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Gln492His"	""	"Germline"	"yes"	"rs17711594"	"0"	""	""	""	""	"VUS"	""
"0000811491"	"0"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Kim 2019:31496144}"	""	"PDE6A c.1407+1G>C, Splice"	""	"Germline"	"?"	""	"0"	""	""	"g.149898362C>G"	""	"pathogenic"	"ACMG"
"0000811492"	"0"	"90"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Kim 2019:31496144}"	""	"PDE6A c.1407+1G>C, Splice"	""	"Germline"	"?"	""	"0"	""	""	"g.149898362C>G"	""	"pathogenic"	"ACMG"
"0000811525"	"0"	"70"	"5"	"149278050"	"149278050"	"subst"	"8.15594E-6"	"00000"	"PDE6A_000101"	"g.149278050C>T"	""	"{PMID:Kim 2019:31496144}"	""	"PDE6A c.1283G>A, p.G428GD"	""	"Germline"	"?"	""	"0"	""	""	"g.149898487C>T"	""	"likely pathogenic"	"ACMG"
"0000811526"	"0"	"70"	"5"	"149278050"	"149278050"	"subst"	"8.15594E-6"	"00000"	"PDE6A_000101"	"g.149278050C>T"	""	"{PMID:Kim 2019:31496144}"	""	"PDE6A c.1283G>A, p.G428GD"	""	"Germline"	"?"	""	"0"	""	""	"g.149898487C>T"	""	"likely pathogenic"	"ACMG"
"0000811811"	"0"	"70"	"15"	"149301194"	"149301194"	"subst"	"0"	"00000"	"PDE6A_000096"	"g.149301194G>A"	""	"{PMID:Gao 2019:31054281}"	""	"c.933+4C>T"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149921631G>A"	""	"likely pathogenic"	""
"0000811818"	"0"	"70"	"6"	"149301194"	"149301194"	"subst"	"0"	"00000"	"PDE6A_000096"	"g.149301194G>A"	""	"{PMID:Gao 2019:31054281}"	""	"c.933+4C>T"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149921631G>A"	""	"likely pathogenic"	""
"0000811826"	"0"	"70"	"10"	"149264133"	"149264133"	"subst"	"0"	"00000"	"PDE6A_000060"	"g.149264133T>C"	""	"{PMID:Gao 2019:31054281}"	""	"c.1936A>G, p.Ile646Val"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149884570T>C"	""	"likely pathogenic"	""
"0000811836"	"0"	"70"	"6"	"149264133"	"149264133"	"subst"	"0"	"00000"	"PDE6A_000060"	"g.149264133T>C"	""	"{PMID:Gao 2019:31054281}"	""	"c.1936A>G, p.Ile646Val"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149884570T>C"	""	"likely pathogenic"	""
"0000811850"	"0"	"70"	"12"	"149277925"	"149277925"	"subst"	"0"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Gao 2019:31054281}"	""	"c.1407+1G>C"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149898362C>G"	""	"likely pathogenic"	""
"0000811851"	"0"	"70"	"3"	"149277925"	"149277925"	"subst"	"0"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Gao 2019:31054281}"	""	"c.1407+1G>C"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149898362C>G"	""	"likely pathogenic"	""
"0000811875"	"0"	"70"	"1"	"149264133"	"149264133"	"subst"	"0"	"00000"	"PDE6A_000060"	"g.149264133T>C"	""	"{PMID:Gao 2019:31054281}"	""	"c.1936A>G, p.Ile646Val"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.149884570T>C"	""	"likely pathogenic"	""
"0000812020"	"0"	"70"	"5"	"149310665"	"149310665"	"subst"	"0.000637848"	"00000"	"PDE6A_000043"	"g.149310665C>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.4 c.784G>A  p.(Ala262Thr), Ex.4 c.784G>A  p.(Ala262Thr), RPGRIP1: p.(Asp1114Gly) Ex.21 c.3341A>G"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931102C>T"	""	"likely pathogenic"	""
"0000812072"	"0"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.1 c.305G>A p.(Arg102His), Ex.1 c.305G>A p.(Arg102His), RPGRIP1: Ex.14 c.1767G>T p.(Gln589His)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149944369C>T"	""	"likely pathogenic"	""
"0000812090"	"0"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.13 c.1705C>A p.(Gln569Lys), Ex.16 c.1957C>T p.(Arg653*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000812091"	"0"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.13 c.1705C>A p.(Gln569Lys), Ex.16 c.1957C>T p.(Arg653*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000812142"	"0"	"70"	"5"	"149294504"	"149294504"	"subst"	"0"	"00000"	"PDE6A_000153"	"g.149294504A>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A IVS6 c.998+2T>G  p.(?), Ex.16 c.1957C>T  p.(Arg653*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914941A>C"	""	"likely pathogenic"	""
"0000812143"	"0"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A IVS6 c.998+2T>G  p.(?), Ex.16 c.1957C>T  p.(Arg653*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000812189"	"0"	"70"	"5"	"149314223"	"149314223"	"subst"	"0"	"00000"	"PDE6A_000154"	"g.149314223A>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.2 c.533T>A p.(Leu178*), Ex.16 c.1957C>T p.(Arg653*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149934660A>T"	""	"likely pathogenic"	""
"0000812190"	"0"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.2 c.533T>A p.(Leu178*), Ex.16 c.1957C>T p.(Arg653*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000812191"	"3"	"70"	"5"	"149324152"	"149324152"	"subst"	"9.7557E-5"	"00000"	"PDE6A_000093"	"g.149324152G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.1 c.85C>T p.(Arg29Trp), Ex.1 c.85C>T p.(Arg29Trp)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149944589G>A"	""	"likely pathogenic"	""
"0000812294"	"3"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.16 c.1957C>T  p.(Arg653*), Ex.16 c.1957C>T  p.(Arg653*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000812319"	"0"	"70"	"5"	"216243634"	"216243634"	"subst"	"0"	"00000"	"PDE6A_000155"	"g.216243634G>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.227G>A p.(Arg76Gln), Ex.4 c.352G>A p.(Val118Met), PDE6A: Ex.5 c.878C>T p.(Pro293Leu) //USH2A: Ex.30 c.5858C>G p.(Ala1953Gly)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.216070292G>C"	""	"likely pathogenic"	""
"0000812320"	"0"	"70"	"5"	"149301253"	"149301253"	"subst"	"0.00305817"	"00000"	"PDE6A_000021"	"g.149301253G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.227G>A p.(Arg76Gln), Ex.4 c.352G>A p.(Val118Met), PDE6A: Ex.5 c.878C>T p.(Pro293Leu) //USH2A: Ex.30 c.5858C>G p.(Ala1953Gly)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149921690G>A"	""	"likely pathogenic"	""
"0000812336"	"3"	"70"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00000"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.13 c.1630C>T p.(Arg544Trp), Ex13 c.1630C>T p.(Arg544Trp)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149895281G>A"	""	"likely pathogenic"	""
"0000812415"	"3"	"70"	"5"	"149278951"	"149278951"	"subst"	"0"	"00000"	"PDE6A_000152"	"g.149278951T>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6A Ex.9 c.1250A>G p.(Glu417Gly), Ex.9 c.1250A>G p.(Glu417Gly)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149899388T>C"	""	"likely pathogenic"	""
"0000814269"	"3"	"70"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Chen 2020:31872526}"	""	"PDE6A:splicing:c.1407+1G>C"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149898362C>G"	""	"likely pathogenic"	""
"0000815432"	"0"	"50"	"5"	"149310686"	"149310686"	"subst"	"4.06243E-6"	"00000"	"PDE6A_000158"	"g.149310686T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PDE6A:NM_000440 c.A763G, p.I255V"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.149931123T>C"	""	"VUS"	"ACMG"
"0000815533"	"0"	"90"	"5"	"149283210"	"149283210"	"subst"	"2.43702E-5"	"00000"	"PDE6A_000157"	"g.149283210C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PDE6A:NM_000440 c.1113+1G>A, p.?"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.149903647C>T"	""	"pathogenic"	"ACMG"
"0000815717"	"0"	"50"	"5"	"149265888"	"149265888"	"subst"	"0"	"03779"	"PDE6A_000156"	"g.149265888A>T"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"VUS"	""
"0000815985"	"0"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PDE6A c.2053G>A, p.Val685Met"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000815997"	"0"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PDE6A c.1705C>A, p.Gln569Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000816024"	"0"	"70"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"00000"	"PDE6A_000116"	"g.149275918C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PDE6A c.1620+1G>A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149896355C>T"	""	"likely pathogenic"	""
"0000816050"	"0"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PDE6A c.998+1G>A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	""
"0000816140"	"3"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PDE6A c.1957C>T, p.Arg653Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000816329"	"0"	"70"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.769C>T, p.Arg257Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149931117G>A"	""	"likely pathogenic"	""
"0000816340"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"2.84361E-5"	"00000"	"PDE6A_000047"	"g.149323933G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.304C>T, p.Arg102Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>A"	""	"likely pathogenic"	""
"0000816366"	"0"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.2053G>A, p.Val685Met"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000816387"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.304C>A, p.Arg102Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000816453"	"0"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1957C>T, p.Arg653Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000816749"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"PDE6A c.304C>A, p.R102C"	"error in annotation: c.304C>A causes p.R102S and not p.R102C, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000816750"	"1"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"PDE6A c.1705C>A, p.Q569K"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000816751"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"PDE6A c.304C>A, p.R102C"	"error in annotation: c.304C>A causes p.R102S and not p.R102C, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000816840"	"2"	"70"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"00000"	"PDE6A_000088"	"g.149301223G>C"	""	"{PMID:Jauregui 2020:32098976}"	""	"PDE6A c.908C>G, p.S303C"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149921660G>C"	""	"likely pathogenic"	""
"0000816841"	"2"	"70"	"5"	"149247299"	"149247299"	"subst"	"0"	"00000"	"PDE6A_000159"	"g.149247299G>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"PDE6A c.2263C>T, p.Q755X"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149867736G>A"	""	"likely pathogenic"	""
"0000816842"	"2"	"70"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"00000"	"PDE6A_000088"	"g.149301223G>C"	""	"{PMID:Jauregui 2020:32098976}"	""	"PDE6A c.908C>G, p.S303C"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149921660G>C"	""	"likely pathogenic"	""
"0000819442"	"1"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.2053G>A/p.V685M , variant 2: c.2053G>A/p.V685M"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000819443"	"1"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.2053G>A/p.V685M , variant 2: c.2053G>A/p.V685M"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000819692"	"1"	"70"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.769C>T/p.R257*, variant 2: c.769C>T/p.R257*"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"likely pathogenic"	""
"0000819913"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000820103"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000820111"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000820331"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000820423"	"1"	"70"	"5"	"149313535"	"149313535"	"del"	"0"	"00000"	"PDE6A_000165"	"g.149313535del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.676del/p.H226Tfs*2, variant 2: c.2053G>A/p.V685M"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149933972del"	""	"likely pathogenic"	""
"0000820467"	"1"	"70"	"5"	"149324199"	"149324199"	"subst"	"0"	"00000"	"PDE6A_000166"	"g.149324199A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.38T>A/p.L13Q, variant 2: c.2053G>A/p.V685M"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944636A>T"	""	"likely pathogenic"	""
"0000820468"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000820512"	"1"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.1957C>T/p.R653*, variant 2: c.1956_1957ins20/p.R653*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000820513"	"1"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.1359_1361delinsCC/ p.V454Qfs*5"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000820532"	"1"	"70"	"5"	"149263044"	"149263044"	"subst"	"4.06458E-6"	"00000"	"PDE6A_000160"	"g.149263044G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.2083C>T/p.Q695*, variant 2: c.1065+2T>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883481G>A"	""	"likely pathogenic"	""
"0000820573"	"1"	"70"	"5"	"149275929"	"149275929"	"subst"	"0"	"00000"	"PDE6A_000161"	"g.149275929A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.1610T>C/p.I537T, variant 2: c.743T>A/p.V248D"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149896366A>G"	""	"likely pathogenic"	""
"0000820576"	"1"	"70"	"5"	"149264342"	"149264342"	"subst"	"4.06306E-6"	"00000"	"PDE6A_000112"	"g.149264342C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.1926+1G>A/p.?, variant 2: c.1926+1G>A/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884779C>T"	""	"likely pathogenic"	""
"0000820816"	"1"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000820863"	"1"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000820911"	"1"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.676del/p.H226Tfs*2, variant 2: c.2053G>A/p.V685M"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000820928"	"1"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.38T>A/p.L13Q, variant 2: c.2053G>A/p.V685M"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000820950"	"1"	"70"	"5"	"0"	"0"	""	"0"	"00000"	"RAD50_000000"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.1957C>T/p.R653*, variant 2: c.1956_1957ins20/p.R653*"	"inserted nucleotides not given in the publication, solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820951"	"1"	"70"	"5"	"149277972"	"149277974"	"delins"	"0"	"00000"	"PDE6A_000162"	"g.149277972_149277974delinsGG"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.1359_1361delinsCC/ p.V454Qfs*5"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149898409_149898411delinsGG"	""	"likely pathogenic"	""
"0000820959"	"1"	"70"	"5"	"149286873"	"149286873"	"subst"	"0"	"00000"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.2083C>T/p.Q695*, variant 2: c.1065+2T>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149907310A>T"	""	"likely pathogenic"	""
"0000820982"	"1"	"70"	"5"	"149310706"	"149310706"	"subst"	"0"	"00000"	"PDE6A_000164"	"g.149310706A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6A, variant 1: c.1610T>C/p.I537T, variant 2: c.743T>A/p.V248D"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149931143A>T"	""	"likely pathogenic"	""
"0000821321"	"3"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Turro 2020:32581362}"	""	"PDE6A c.1957C>T, p.Arg653Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000821322"	"3"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Turro 2020:32581362}"	""	"PDE6A c.1957C>T, p.Arg653Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000822107"	"0"	"70"	"5"	"149240492"	"149240492"	"subst"	"0.00106482"	"00000"	"PDE6A_000007"	"g.149240492C>A"	""	"{PMID:Booij-2011:20801516}"	""	"c.2549G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822108"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Booij-2011:20801516}"	""	"c.304C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822109"	"0"	"70"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"00000"	"PDE6A_000044"	"g.149313563T>C"	""	"{PMID:Booij-2011:20801516}"	""	"c.647A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000823239"	"21"	"50"	"5"	"149324032"	"149324032"	"subst"	"0"	"00000"	"PDE6A_000129"	"g.149324032G>A"	""	"{PMID:Hull 2020:32856788}"	""	"PDE6A nucleotide 1, protein 1:c.205C>T, p.Gln69*  nucleotide 2, protein 2:c.2275-1G>A, p.?"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.149944469G>A"	""	"VUS"	""
"0000823240"	"0"	"50"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Hull 2020:32856788}"	""	"PDE6A nucleotide 1, protein 1:c.1957C>T, p.Arg653* nucleotide 2, protein 2:c.2198A>G, p.Gln733Arg"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"VUS"	""
"0000823279"	"0"	"50"	"5"	"149245817"	"149245817"	"subst"	"0"	"00000"	"PDE6A_000167"	"g.149245817C>T"	""	"{PMID:Hull 2020:32856788}"	""	"PDE6A nucleotide 1, protein 1:c.205C>T, p.Gln69*  nucleotide 2, protein 2:c.2275-1G>A, p.?"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.149866254C>T"	""	"VUS"	""
"0000823280"	"0"	"50"	"5"	"149247659"	"149247659"	"subst"	"0"	"00000"	"PDE6A_000168"	"g.149247659T>C"	""	"{PMID:Hull 2020:32856788}"	""	"PDE6A nucleotide 1, protein 1:c.1957C>T, p.Arg653* nucleotide 2, protein 2:c.2198A>G, p.Gln733Arg"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.149868096T>C"	""	"VUS"	""
"0000824668"	"0"	"50"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Ma 2021:33691693}"	""	"PDE6A c.G305A, p.R102H"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944369C>T"	""	"VUS"	"ACMG"
"0000824765"	"0"	"50"	"5"	"149323812"	"149323812"	"subst"	"8.12704E-6"	"00000"	"PDE6A_000169"	"g.149323812C>T"	""	"{PMID:Ma 2021:33691693}"	""	"PDE6A c.G425A, p.G142D"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944249C>T"	""	"VUS"	"ACMG"
"0000825679"	"0"	"70"	"5"	"149274789"	"149274789"	"subst"	"2.84294E-5"	"00000"	"PDE6A_000124"	"g.149274789C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.1685G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825680"	"0"	"70"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.1407+1G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825755"	"0"	"70"	"5"	"149274823"	"149274823"	"subst"	"0"	"00000"	"PDE6A_000125"	"g.149274823T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.1651A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825756"	"0"	"70"	"5"	"149323952"	"149323952"	"subst"	"0"	"00000"	"PDE6A_000126"	"g.149323952G>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.285C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825757"	"0"	"70"	"5"	"149245818"	"149245818"	"subst"	"0"	"00000"	"PDE6A_000123"	"g.149245818T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.2275-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825758"	"0"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.1957C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825937"	"0"	"70"	"5"	"149265919"	"149265919"	"subst"	"0"	"00000"	"PDE6A_000014"	"g.149265919A>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.1747T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825938"	"0"	"70"	"5"	"149274823"	"149274823"	"subst"	"0"	"00000"	"PDE6A_000125"	"g.149274823T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.1651A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826940"	"0"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"PDE6A c.2053G>A, p.Val685Met"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000826941"	"0"	"70"	"5"	"149274859"	"149274859"	"subst"	"0"	"00000"	"PDE6A_000173"	"g.149274859A>C"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"PDE6A c.1621-6T>G, could affect splicing"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895296A>C"	""	"likely pathogenic"	""
"0000826942"	"0"	"70"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"PDE6A c.2053G>A, p.Val685Met"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"likely pathogenic"	""
"0000826943"	"0"	"70"	"5"	"149274859"	"149274859"	"subst"	"0"	"00000"	"PDE6A_000173"	"g.149274859A>C"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"PDE6A c.1621-6T>G, could affect splicing"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895296A>C"	""	"likely pathogenic"	""
"0000827298"	"0"	"90"	"5"	"149245732"	"149245732"	"subst"	"2.03059E-5"	"00000"	"PDE6A_000170"	"g.149245732C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2358+1G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827299"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.304C>A"	""	"Germline"	""	"rs141252097"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827300"	"0"	"90"	"5"	"149263005"	"149263027"	"del"	"0"	"00000"	"PDE6A_000172"	"g.149263005_149263027del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2100_2122del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827301"	"0"	"90"	"5"	"149245814"	"149245814"	"del"	"0"	"00000"	"PDE6A_000171"	"g.149245814del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2277del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827302"	"0"	"70"	"5"	"149279035"	"149279035"	"subst"	"8.12334E-6"	"00000"	"PDE6A_000121"	"g.149279035G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1166C>T"	""	"Germline"	""	"rs1406110455"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827303"	"0"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2053G>A"	""	"Germline"	""	"rs121909835"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827304"	"0"	"90"	"5"	"149313534"	"149313534"	"del"	"0"	"00000"	"PDE6A_000165"	"g.149313534del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.676del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827305"	"0"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1705C>A"	""	"Germline"	""	"rs139444207"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827306"	"0"	"90"	"5"	"149245732"	"149245732"	"subst"	"2.03059E-5"	"00000"	"PDE6A_000170"	"g.149245732C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2358+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827307"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.304C>A"	""	"Germline"	""	"rs141252097"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000829848"	"3"	"90"	"5"	"149324071"	"149324071"	"subst"	"0"	"00000"	"PDE6A_000174"	"g.149324071C>A"	""	"{PMID:Numa-2020:33247286}"	""	"c.166G>T:p.E56X"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000832884"	"21"	"70"	"5"	"149323933"	"149323933"	"subst"	"2.84361E-5"	"00000"	"PDE6A_000047"	"g.149323933G>A"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A 304C>T, R102C"	"within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>A"	""	"likely pathogenic"	""
"0000832885"	"21"	"70"	"5"	"149323933"	"149323933"	"subst"	"2.84361E-5"	"00000"	"PDE6A_000047"	"g.149323933G>A"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A 304C>T, R102C"	"within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>A"	""	"likely pathogenic"	""
"0000832886"	"21"	"70"	"5"	"149323933"	"149323933"	"subst"	"2.84361E-5"	"00000"	"PDE6A_000047"	"g.149323933G>A"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A 304C>T, R102C"	"within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>A"	""	"likely pathogenic"	""
"0000832888"	"11"	"70"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"00000"	"PDE6A_000088"	"g.149301223G>C"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A 908C>G, S303C"	"within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149921660G>C"	""	"likely pathogenic"	""
"0000832889"	"0"	"10"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"00000"	"PDE6A_000044"	"g.149313563T>C"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A , N216S"	"nucleotide extrapolated from protein annotation; within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149934000T>C"	""	"likely benign"	""
"0000832890"	"11"	"70"	"5"	"149301223"	"149301223"	"subst"	"0.0013321"	"00000"	"PDE6A_000088"	"g.149301223G>C"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A 908C>G, S303C"	"within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149921660G>C"	""	"likely pathogenic"	""
"0000832891"	"0"	"10"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"00000"	"PDE6A_000044"	"g.149313563T>C"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A , N216S"	"nucleotide extrapolated from protein annotation; within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149934000T>C"	""	"likely benign"	""
"0000832892"	"11"	"70"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"00000"	"PDE6A_000044"	"g.149313563T>C"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A 908C>G, S303C"	"within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149934000T>C"	""	"likely pathogenic"	""
"0000832893"	"0"	"10"	"5"	"149313563"	"149313563"	"subst"	"0.00981725"	"00000"	"PDE6A_000044"	"g.149313563T>C"	""	"{PMID:Tsang 2008:18723146}"	""	"PDE6A , N216S"	"nucleotide extrapolated from protein annotation; within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description"	"Germline"	"yes"	""	"0"	""	""	"g.149934000T>C"	""	"likely benign"	""
"0000833014"	"11"	"70"	"4"	"654392"	"654392"	"subst"	"4.06891E-6"	"00000"	"PDE6B_000099"	"g.654392T>A"	""	"{PMID:Kuniyoshi 2015:25827439}"	""	"PDE6B I535N (c.1604T>A)"	""	"Germline"	"yes"	""	"0"	""	""	"g.660603T>A"	""	"likely pathogenic"	""
"0000833015"	"11"	"70"	"4"	"654392"	"654392"	"subst"	"4.06891E-6"	"00000"	"PDE6B_000099"	"g.654392T>A"	""	"{PMID:Kuniyoshi 2015:25827439}"	""	"PDE6B I535N (c.1604T>A)"	""	"Germline"	"yes"	""	"0"	""	""	"g.660603T>A"	""	"likely pathogenic"	""
"0000833250"	"21"	"90"	"5"	"149310626"	"149310627"	"del"	"0"	"00000"	"PDE6A_000186"	"g.149310626_149310627del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.823_824del, p.(Tyr275Leufs*15)"	"heterozygous; mother - het c.2366C>T p.(Ser789Phe)"	"Germline"	"yes"	""	"0"	""	""	"g.149931063_149931064del"	""	"pathogenic"	"ACMG"
"0000833251"	"11"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.304C>A, p.(Arg102Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	"ACMG"
"0000833252"	"11"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.304C>A, p.(Arg102Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	"ACMG"
"0000833253"	"10"	"90"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1268del, p.(Leu423*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898504del"	""	"pathogenic"	"ACMG"
"0000833254"	"3"	"90"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.305G>A, p.(Arg102His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944369C>T"	""	"pathogenic"	"ACMG"
"0000833255"	"10"	"90"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1268del, p.(Leu423*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898504del"	""	"pathogenic"	"ACMG"
"0000833256"	"3"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833257"	"3"	"90"	"5"	"149274791"	"149274791"	"subst"	"4.06124E-6"	"00000"	"PDE6A_000180"	"g.149274791C>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1683G>A, p.(Trp561*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895228C>T"	""	"pathogenic"	"ACMG"
"0000833258"	"11"	"90"	"5"	"149324032"	"149324032"	"subst"	"0"	"00000"	"PDE6A_000129"	"g.149324032G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.205C>T, p.(Gln69*)"	"heterozygous; mother, father and unaffected brother   het c.1683G>A p.(Trp561"	"Germline"	"yes"	""	"0"	""	""	"g.149944469G>A"	""	"pathogenic"	"ACMG"
"0000833259"	"21"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.998+1G>A, p.(?)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000833260"	"21"	"90"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1268del, p.(Leu423*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898504del"	""	"pathogenic"	"ACMG"
"0000833261"	"10"	"90"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1268del, p.(Leu423*)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149898504del"	""	"pathogenic"	"ACMG"
"0000833262"	"10"	"90"	"5"	"149286874"	"149286874"	"subst"	"0"	"00000"	"PDE6A_000185"	"g.149286874C>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1065+1G>T, p.(?)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149907311C>A"	""	"pathogenic"	"ACMG"
"0000833263"	"3"	"90"	"5"	"149276066"	"149276066"	"subst"	"0"	"00000"	"PDE6A_000181"	"g.149276066C>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1474-1G>A, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149896503C>T"	""	"pathogenic"	"ACMG"
"0000833264"	"0"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.304C>A, p.(Arg102Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	"ACMG"
"0000833265"	"21"	"70"	"5"	"149263002"	"149263002"	"subst"	"0.000227631"	"00000"	"PDE6A_000032"	"g.149263002C>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.2125G>A, p.(Glu709Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883439C>T"	""	"likely pathogenic"	"ACMG"
"0000833266"	"1"	"90"	"5"	"149277982"	"149277982"	"subst"	"0"	"00000"	"PDE6A_000182"	"g.149277982G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1351C>T, p.(Gln451*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898419G>A"	""	"pathogenic"	"ACMG"
"0000833267"	"1"	"90"	"5"	"149277982"	"149277982"	"subst"	"0"	"00000"	"PDE6A_000182"	"g.149277982G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1351C>T, p.(Gln451*)"	"heterozygous; one unaffected brother - het c.1724T>C , p.(Leu575Pro)"	"Germline"	"yes"	""	"0"	""	""	"g.149898419G>A"	""	"pathogenic"	"ACMG"
"0000833268"	"2"	"90"	"5"	"149274750"	"149274750"	"subst"	"0"	"00000"	"PDE6A_000179"	"g.149274750A>G"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1724T>C, p.(Leu575Pro)"	"heterozygous; one unaffected brother - het c.1724T>C , p.(Leu575Pro)"	"Germline"	"yes"	""	"0"	""	""	"g.149895187A>G"	""	"pathogenic"	"ACMG"
"0000833269"	"2"	"90"	"5"	"149274750"	"149274750"	"subst"	"0"	"00000"	"PDE6A_000179"	"g.149274750A>G"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1724T>C, p.(Leu575Pro)"	"heterozygous; one unaffected brother - het c.1724T>C , p.(Leu575Pro)"	"Germline"	"yes"	""	"0"	""	""	"g.149895187A>G"	""	"pathogenic"	"ACMG"
"0000833270"	"2"	"90"	"5"	"149274750"	"149274750"	"subst"	"0"	"00000"	"PDE6A_000179"	"g.149274750A>G"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1724T>C, p.(Leu575Pro)"	"heterozygous; one unaffected brother - het c.1724T>C , p.(Leu575Pro)"	"Germline"	"yes"	""	"0"	""	""	"g.149895187A>G"	""	"pathogenic"	"ACMG"
"0000833271"	"11"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833309"	"21"	"90"	"5"	"149278967"	"149278967"	"del"	"0"	"00000"	"PDE6A_000183"	"g.149278967del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1236del, p.(Phe412Leufs*12)"	"heterozygous; father   het c.1236del p.(Phe412Leufs*12) mother - het c.823_824del p.(Tyr275Leufs*1"	"Germline"	"yes"	""	"0"	""	""	"g.149899404del"	""	"pathogenic"	"ACMG"
"0000833310"	"11"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous; father   het c.304C>A p.(Arg102Ser) mother - het c.1705C>A p.(Gln569Ly"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833311"	"11"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833312"	"10"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous; unaffected brother - het c.1268del p.(Leu423*)  mother - het c.1705C>A p.(Gln569Lys)"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833313"	"21"	"90"	"5"	"149247329"	"149247329"	"subst"	"0"	"00000"	"PDE6A_000178"	"g.149247329G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.2233C>T, p.(Gln745*)"	"heterozygous; mother   het c.2233C>T p.(Gln745*) father - het c.205C>T p.(Gln69"	"Germline"	"yes"	""	"0"	""	""	"g.149867766G>A"	""	"pathogenic"	"ACMG"
"0000833314"	"10"	"90"	"5"	"149286873"	"149286873"	"subst"	"0"	"00000"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1065+2T>A, p.(?)"	"heterozygous; mother   het c.998+1G>A unaffected sister - het c.1065+2T"	"Germline"	"yes"	""	"0"	""	""	"g.149907310A>T"	""	"pathogenic"	"ACMG"
"0000833315"	"10"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous; mother- het c.1268del"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833316"	"10"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833317"	"21"	"90"	"5"	"149283252"	"149283252"	"subst"	"0"	"00000"	"PDE6A_000184"	"g.149283252T>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1072A>T, p.(Asn358Tyr)"	"heterozygous; mother het c.1072A>T p.(Asn358Tyr)"	"Germline"	"yes"	""	"0"	""	""	"g.149903689T>A"	""	"pathogenic"	"ACMG"
"0000833318"	"0"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1705C>A, p.(Gln569Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"pathogenic"	"ACMG"
"0000833319"	"21"	"70"	"5"	"149242820"	"149242820"	"subst"	"0.000186811"	"00000"	"PDE6A_000175"	"g.149242820G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.2368C>T, p.(Arg790Cys)"	"heterozygous; three unaffected brothers, one unaffected sister and reference mother - Het c.2125G>A, p.(Glu709Lys) het c.2368C>T, p.(Arg790Cys"	"Germline"	"yes"	""	"0"	""	""	"g.149863257G>A"	""	"likely pathogenic"	"ACMG"
"0000833320"	"10"	"90"	"5"	"149245772"	"149245773"	"del"	"0"	"00000"	"PDE6A_000177"	"g.149245772_149245773del"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.2318_2319del, p.(Gln773Argfs*5)"	"heterozygous; three unaffected brothers, one unaffected sister and reference mother - Het c.2125G>A, p.(Glu709Lys) het c.2368C>T, p.(Arg790Cys"	"Germline"	"yes"	""	"0"	""	""	"g.149866209_149866210del"	""	"pathogenic"	"ACMG"
"0000833321"	"1"	"90"	"5"	"149277982"	"149277982"	"subst"	"0"	"00000"	"PDE6A_000182"	"g.149277982G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1351C>T, p.(Gln451*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898419G>A"	""	"pathogenic"	"ACMG"
"0000833322"	"20"	"90"	"5"	"149264103"	"149264103"	"subst"	"4.0655E-6"	"00000"	"PDE6A_000109"	"g.149264103C>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.1966G>T, p.(Glu656*)"	"heterozygous; unaffected brother and father    het c.1705C>A p.(Gln569Ly"	"Germline"	"yes"	""	"0"	""	""	"g.149884540C>A"	""	"pathogenic"	"ACMG"
"0000833334"	"3"	"70"	"5"	"149242822"	"149242822"	"subst"	"0"	"00000"	"PDE6A_000176"	"g.149242822G>A"	""	"{PMID:Khateb 2019:30998820}"	""	"PDE6A c.2366C>T, p.(Ser789Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149863259G>A"	""	"likely pathogenic"	"ACMG"
"0000840243"	"0"	"30"	"5"	"149323986"	"149323986"	"subst"	"8.53319E-5"	"00000"	"PDE6A_000188"	"g.149323986T>A"	""	"{PMID:Men-2017:29062221}"	""	"c.251A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000840248"	"0"	"30"	"5"	"149278987"	"149278987"	"subst"	"0.000150315"	"00000"	"PDE6A_000187"	"g.149278987T>C"	""	"{PMID:Men-2017:29062221}"	""	"c.1214A>G"	""	"Germline"	""	"rs145107955"	"0"	""	""	""	""	"likely benign"	""
"0000846460"	"0"	"70"	"14"	"149323933"	"149323933"	"subst"	"0"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Chebil 2016:26868535}"	""	"PDE6A c.304C>A, R102S"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000850835"	"0"	"50"	"5"	"149314259"	"149314259"	"subst"	"0.00022742"	"01943"	"PDE6A_000190"	"g.149314259A>G"	""	""	""	"PDE6A(NM_000440.2):c.497T>C (p.V166A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859813"	"0"	"50"	"5"	"149262996"	"149262996"	"subst"	"1.62656E-5"	"02330"	"PDE6A_000133"	"g.149262996C>T"	""	""	""	"PDE6A(NM_000440.3):c.2131G>A (p.V711I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859814"	"0"	"50"	"5"	"149265825"	"149265825"	"subst"	"0"	"01943"	"PDE6A_000189"	"g.149265825C>G"	""	""	""	"PDE6A(NM_000440.2):c.1838+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859815"	"0"	"50"	"5"	"149274785"	"149274785"	"subst"	"8.12288E-6"	"02330"	"PDE6A_000134"	"g.149274785G>T"	""	""	""	"PDE6A(NM_000440.3):c.1689C>A (p.H563Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859816"	"0"	"30"	"5"	"149324081"	"149324081"	"subst"	"2.84428E-5"	"01943"	"PDE6A_000191"	"g.149324081C>T"	""	""	""	"PDE6A(NM_000440.2):c.156G>A (p.P52=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000868390"	"11"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Arg102His (CGC to CAC)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944369C>T"	""	"likely pathogenic"	""
"0000868391"	"11"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Arg102His (CGC to CAC)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944369C>T"	""	"likely pathogenic"	""
"0000868392"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A IVS6+1G->A (CAG to AAG)"	"obsolete nucleotide annotation, extrapolated from protein, sequence and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868393"	"3"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Gln569Lys (CAG to AAG)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000868394"	"11"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Arg102Ser (CGC to AGC)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000868395"	"11"	"70"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Arg102Ser (CGC to AGC)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"likely pathogenic"	""
"0000868396"	"21"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Gln569Lys (CAG to AAG)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000868397"	"21"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Gln569Lys (CAG to AAG)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	""
"0000868398"	"21"	"70"	"5"	"149274757"	"149274757"	"subst"	"1.62456E-5"	"00000"	"PDE6A_000195"	"g.149274757A>G"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Ser573Pro (TCC to CCC)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895194A>G"	""	"likely pathogenic"	""
"0000868399"	"21"	"70"	"5"	"149274757"	"149274757"	"subst"	"1.62456E-5"	"00000"	"PDE6A_000195"	"g.149274757A>G"	""	"{PMID:Dryja 1999:10393062}"	""	"PDE6A Ser573Pro (TCC to CCC)"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895194A>G"	""	"likely pathogenic"	""
"0000868400"	"11"	"70"	"5"	"149265917"	"149265917"	"subst"	"0"	"00000"	"PDE6A_000035"	"g.149265917G>C"	""	"{PMID:Huang 1995:7493036}"	""	"PDE6A Tyr583Ter"	"no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149886354G>C"	""	"likely pathogenic"	""
"0000868401"	"11"	"70"	"5"	"149274791"	"149274791"	"subst"	"4.06124E-6"	"00000"	"PDE6A_000180"	"g.149274791C>T"	""	"{PMID:Huang 1995:7493036}"	""	"PDE6A Trp561Ter"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895228C>T"	""	"likely pathogenic"	""
"0000868402"	"11"	"70"	"5"	"149274791"	"149274791"	"subst"	"4.06124E-6"	"00000"	"PDE6A_000180"	"g.149274791C>T"	""	"{PMID:Huang 1995:7493036}"	""	"PDE6A Trp561Ter"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895228C>T"	""	"likely pathogenic"	""
"0000868403"	"11"	"70"	"5"	"149286908"	"149286908"	"subst"	"0"	"00000"	"PDE6A_000039"	"g.149286908G>T"	""	"{PMID:Huang 1995:7493036}"	""	"PDE6A Ser334Arg"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149907345G>T"	""	"likely pathogenic"	""
"0000868404"	"11"	"70"	"5"	"149286908"	"149286908"	"subst"	"0"	"00000"	"PDE6A_000039"	"g.149286908G>T"	""	"{PMID:Huang 1995:7493036}"	""	"PDE6A Ser334Arg"	"no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149907345G>T"	""	"likely pathogenic"	""
"0000868405"	"3"	"70"	"6"	"149310680"	"149310680"	"subst"	"0"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.889C>T, Arg256>Ter"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"likely pathogenic"	""
"0000868406"	"3"	"70"	"6"	"149310680"	"149310680"	"subst"	"0"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.889C>T, Arg256>Ter"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"likely pathogenic"	""
"0000868407"	"3"	"70"	"6"	"149310680"	"149310680"	"subst"	"0"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.889C>T, Arg256>Ter"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"likely pathogenic"	""
"0000868408"	"3"	"70"	"6"	"149310680"	"149310680"	"subst"	"0"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.889C>T, Arg256>Ter"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"likely pathogenic"	""
"0000868409"	"3"	"70"	"7"	"149276341"	"149276341"	"subst"	"0"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A IVS10-2A>G, p.K470_L491del"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868410"	"3"	"70"	"7"	"149276341"	"149276341"	"subst"	"0"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A IVS10-2A>G, p.K470_L491del"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868411"	"3"	"70"	"7"	"149276341"	"149276341"	"subst"	"0"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A IVS10-2A>G, p.K470_L491del"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868412"	"3"	"70"	"7"	"149276341"	"149276341"	"subst"	"0"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A IVS10-2A>G, p.K470_L491del"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868413"	"3"	"70"	"7"	"149276341"	"149276341"	"subst"	"0"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A IVS10-2A>G, p.K470_L491del"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868414"	"3"	"70"	"8"	"149263029"	"149263029"	"dup"	"0"	"00000"	"PDE6A_000004"	"g.149263029dup"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.2218-2219insT, p.Y700fsX714"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883466dup"	""	"likely pathogenic"	""
"0000868415"	"3"	"70"	"8"	"149263029"	"149263029"	"dup"	"0"	"00000"	"PDE6A_000004"	"g.149263029dup"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.2218-2219insT, p.Y700fsX714"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883466dup"	""	"likely pathogenic"	""
"0000868416"	"3"	"70"	"8"	"149263029"	"149263029"	"dup"	"0"	"00000"	"PDE6A_000004"	"g.149263029dup"	""	"{PMID:Riazuddin 2006:17110911}"	""	"PDE6A c.2218-2219insT, p.Y700fsX714"	"obsolete nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883466dup"	""	"likely pathogenic"	""
"0000868418"	"3"	"70"	"5"	"149263100"	"149263100"	"subst"	"0"	"00000"	"PDE6A_000006"	"g.149263100C>T"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883537C>T"	""	"likely pathogenic"	""
"0000868419"	"3"	"70"	"5"	"149263100"	"149263100"	"subst"	"0"	"00000"	"PDE6A_000006"	"g.149263100C>T"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883537C>T"	""	"likely pathogenic"	""
"0000868420"	"3"	"70"	"5"	"149263100"	"149263100"	"subst"	"0"	"00000"	"PDE6A_000006"	"g.149263100C>T"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883537C>T"	""	"likely pathogenic"	""
"0000868421"	"3"	"70"	"5"	"149263100"	"149263100"	"subst"	"0"	"00000"	"PDE6A_000006"	"g.149263100C>T"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883537C>T"	""	"likely pathogenic"	""
"0000868422"	"3"	"70"	"5"	"149263100"	"149263100"	"subst"	"0"	"00000"	"PDE6A_000006"	"g.149263100C>T"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883537C>T"	""	"likely pathogenic"	""
"0000868423"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868424"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868425"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868426"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868427"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868428"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868429"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868430"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868431"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868432"	"3"	"70"	"5"	"149276341"	"149276341"	"subst"	"4.06161E-6"	"00000"	"PDE6A_000005"	"g.149276341T>C"	""	"{PMID:Khan 2015:26321862}"	""	"PDE6A c.2028-1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896778T>C"	""	"likely pathogenic"	""
"0000868434"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868435"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868436"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868437"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868438"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868439"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868440"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868441"	"3"	"70"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kjellstrom 2016:27820873}"	""	"PDE6A IVS6+1G>A (c.998+1G>A)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"likely pathogenic"	""
"0000868442"	"11"	"70"	"5"	"149277925"	"149277925"	"subst"	"7.32291E-5"	"00000"	"PDE6A_000037"	"g.149277925C>G"	""	"{PMID:Zhang 2018:29693493}"	""	"PDE6A c.1407 + 1G>C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898362C>G"	""	"likely pathogenic"	""
"0000868443"	"21"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Zhang 2018:29693493}"	""	"PDE6A c.1957C>T (p.R653X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"likely pathogenic"	""
"0000868444"	"1"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Riera 2019:30685614}"	""	"PDE6A c.305G > A, p.Arg102His"	"heterozygous"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.149944369C>T"	""	"likely pathogenic"	""
"0000868445"	"2"	"70"	"5"	"149278067"	"149278067"	"del"	"0"	"00000"	"PDE6A_000110"	"g.149278067del"	""	"{PMID:Riera 2019:30685614}"	""	"PDE6A c.1268delT (p.Leu423Ter)"	"heterozygous"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.149898504del"	""	"likely pathogenic"	""
"0000868449"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868450"	"1"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1957C>T/p.R653*"	"HGMD: CM161562; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	"ACMG"
"0000868451"	"0"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868452"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868453"	"0"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868454"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868455"	"3"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868456"	"1"	"90"	"5"	"149274790"	"149274790"	"subst"	"1.21842E-5"	"00000"	"PDE6A_000062"	"g.149274790G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1684C>T/p.R562W"	"HGMD: CM1510052; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895227G>A"	""	"pathogenic"	"ACMG"
"0000868457"	"0"	"70"	"5"	"149264143"	"149264143"	"subst"	"0"	"00000"	"PDE6A_000193"	"g.149264143C>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1927-1G>T/p.?"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884580C>A"	""	"likely pathogenic"	"ACMG"
"0000868458"	"1"	"90"	"5"	"149274791"	"149274791"	"subst"	"4.06124E-6"	"00000"	"PDE6A_000180"	"g.149274791C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1683G>A/p.W561*"	"HGMD: CM950913; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895228C>T"	""	"pathogenic"	"ACMG"
"0000868459"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868460"	"1"	"90"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"00000"	"PDE6A_000116"	"g.149275918C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1620 + 1G>A/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149896355C>T"	""	"pathogenic"	"ACMG"
"0000868461"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868462"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.769C>T/p.R257*"	"HGMD: CM066961; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	"ACMG"
"0000868463"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868464"	"0"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868465"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868466"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868467"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868468"	"0"	"50"	"5"	"149275929"	"149275929"	"subst"	"0"	"00000"	"PDE6A_000161"	"g.149275929A>G"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1610T>C/p.I537T"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149896366A>G"	""	"VUS"	"ACMG"
"0000868469"	"1"	"70"	"5"	"149264407"	"149264407"	"subst"	"0"	"00000"	"PDE6A_000194"	"g.149264407A>C"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1862T>G/p.L621R"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884844A>C"	""	"likely pathogenic"	"ACMG"
"0000868470"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868471"	"3"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1957C>T/p.R653*"	"HGMD: CM161562; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	"ACMG"
"0000868472"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868473"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868474"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868475"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868476"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868477"	"3"	"70"	"5"	"149314145"	"149314145"	"del"	"0"	"00000"	"PDE6A_000139"	"g.149314145del"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.612del/p.K205Rfs*16"	"HGMD: CD192430; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149934582del"	""	"likely pathogenic"	"ACMG"
"0000868478"	"1"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868479"	"3"	"90"	"5"	"149264342"	"149264342"	"subst"	"4.06306E-6"	"00000"	"PDE6A_000112"	"g.149264342C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1926 + 1G>A/p.?"	"HGMD: none; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884779C>T"	""	"pathogenic"	"ACMG"
"0000868480"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.769C>T/p.R257*"	"HGMD: CM066961; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	"ACMG"
"0000868481"	"1"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1957C>T/p.R653*"	"HGMD: CM161562; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	"ACMG"
"0000868482"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.769C>T/p.R257*"	"HGMD: CM066961; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	"ACMG"
"0000868483"	"0"	"50"	"5"	"149294545"	"149294545"	"subst"	"0"	"00000"	"PDE6A_000041"	"g.149294545T>C"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.959A>G/p.D320G"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149914982T>C"	""	"VUS"	"ACMG"
"0000868484"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868485"	"1"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1957C>T/p.R653*"	"HGMD: CM161562; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	"ACMG"
"0000868486"	"3"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"00000"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1957C>T/p.R653*"	"HGMD: CM161562; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic"	"ACMG"
"0000868487"	"0"	"70"	"5"	"149263044"	"149263044"	"subst"	"4.06458E-6"	"00000"	"PDE6A_000160"	"g.149263044G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2083C>T/p.Q695*"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883481G>A"	""	"likely pathogenic"	"ACMG"
"0000868488"	"3"	"90"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.305G>A/p.R102H"	"HGMD: CM994741; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944369C>T"	""	"pathogenic"	"ACMG"
"0000868489"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00000"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.304C>A/p.R102S"	"HGMD: CM994742; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	"ACMG"
"0000868490"	"3"	"70"	"5"	"149279035"	"149279035"	"subst"	"8.12334E-6"	"00000"	"PDE6A_000121"	"g.149279035G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1166C>T/p.P389L"	"HGMD: CM112500; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149899472G>A"	""	"likely pathogenic"	"ACMG"
"0000868491"	"1"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868492"	"1"	"70"	"5"	"149324170"	"149324175"	"del"	"0"	"00000"	"PDE6A_000198"	"g.149324170_149324175del"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.63_68del/ p.K21_Y23delinsN"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944607_149944612del"	""	"likely pathogenic"	"ACMG"
"0000868493"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00000"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.769C>T/p.R257*"	"HGMD: CM066961; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic"	"ACMG"
"0000868494"	"0"	"70"	"5"	"149313535"	"149313535"	"del"	"0"	"00000"	"PDE6A_000165"	"g.149313535del"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.676del/p.H226Tfs*2"	"HGMD: CD140529; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149933972del"	""	"likely pathogenic"	"ACMG"
"0000868495"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868496"	"3"	"70"	"5"	"149314127"	"149314127"	"subst"	"0"	"00000"	"PDE6A_000138"	"g.149314127A>C"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.627 + 2T>G/p.?"	"HGMD: none; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149934564A>C"	""	"likely pathogenic"	"ACMG"
"0000868497"	"3"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868498"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868499"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"00000"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 1G>A/p.?"	"HGMD: CS994749; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914942C>T"	""	"pathogenic"	"ACMG"
"0000868500"	"3"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868501"	"1"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868502"	"3"	"70"	"5"	"149324153"	"149324153"	"subst"	"0"	"00000"	"PDE6A_000050"	"g.149324153G>C"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.84C>G/p.Y28*"	"HGMD: none; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149944590G>C"	""	"likely pathogenic"	"ACMG"
"0000868503"	"1"	"90"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"00000"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.305G>A/p.R102H"	"HGMD: CM994741; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149944369C>T"	""	"pathogenic"	"ACMG"
"0000868504"	"1"	"50"	"5"	"149278966"	"149278966"	"subst"	"0"	"00000"	"PDE6A_000197"	"g.149278966A>G"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1235T>C/p.F412S"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149899403A>G"	""	"VUS"	"ACMG"
"0000868505"	"3"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868506"	"2"	"90"	"5"	"149294504"	"149294504"	"subst"	"0"	"00000"	"PDE6A_000153"	"g.149294504A>C"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.998 + 2T>G/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149914941A>C"	""	"pathogenic"	"ACMG"
"0000868507"	"0"	"70"	"5"	"149274785"	"149274785"	"subst"	"8.12288E-6"	"00000"	"PDE6A_000134"	"g.149274785G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1689C>A/p.H563Q"	"HGMD: CM1825637; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149895222G>T"	""	"likely pathogenic"	"ACMG"
"0000868508"	"0"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868509"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868510"	"0"	"90"	"5"	"149245757"	"149245760"	"del"	"0"	"00000"	"PDE6A_000132"	"g.149245757_149245760del"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2332_2335del/ p.D778Lfs*42"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149866194_149866197del"	""	"pathogenic"	"ACMG"
"0000868511"	"2"	"90"	"5"	"149278937"	"149278937"	"subst"	"0"	"00000"	"PDE6A_000196"	"g.149278937C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1263 + 1G>A/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149899374C>T"	""	"pathogenic"	"ACMG"
"0000868512"	"2"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868513"	"2"	"70"	"5"	"149274785"	"149274785"	"subst"	"8.12288E-6"	"00000"	"PDE6A_000134"	"g.149274785G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1689C>A/p.H563Q"	"HGMD: CM1825637; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895222G>T"	""	"likely pathogenic"	"ACMG"
"0000868514"	"0"	"90"	"5"	"149264103"	"149264103"	"subst"	"4.0655E-6"	"00000"	"PDE6A_000109"	"g.149264103C>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1966G>T/p.E656*"	"HGMD: CM1717824; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149884540C>A"	""	"pathogenic"	"ACMG"
"0000868515"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868516"	"2"	"70"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"00000"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1705C>A/p.Q569K"	"HGMD: CM994743; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149895206G>T"	""	"likely pathogenic"	"ACMG"
"0000868517"	"0"	"50"	"5"	"149310706"	"149310706"	"subst"	"0"	"00000"	"PDE6A_000164"	"g.149310706A>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.743T>A/p.V248D"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149931143A>T"	""	"VUS"	"ACMG"
"0000868518"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868519"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868520"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868521"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868522"	"2"	"90"	"5"	"149286873"	"149286873"	"subst"	"0"	"00000"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1065 + 2T>A/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149907310A>T"	""	"pathogenic"	"ACMG"
"0000868523"	"2"	"90"	"5"	"149245757"	"149245760"	"del"	"0"	"00000"	"PDE6A_000132"	"g.149245757_149245760del"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2332_2335del/ p.D778Lfs*42"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149866194_149866197del"	""	"pathogenic"	"ACMG"
"0000868524"	"0"	"70"	"5"	"149265917"	"149265917"	"subst"	"0"	"00000"	"PDE6A_000035"	"g.149265917G>C"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1749C>G/p.Y583*"	"HGMD: CM950914; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149886354G>C"	""	"likely pathogenic"	"ACMG"
"0000868525"	"2"	"90"	"5"	"149264115"	"149264116"	"ins"	"0"	"00000"	"PDE6A_000192"	"g.149264115_149264116insGCATGCTCATGCTGTCAACG"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1956_1957ins20/ p.R653*"	"HGMD: none; no inserted nucleotides given, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884552_149884553insGCATGCTCATGCTGTCAACG"	""	"pathogenic"	"ACMG"
"0000868526"	"0"	"90"	"5"	"149286873"	"149286873"	"subst"	"0"	"00000"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1065 + 2T>A/p.?"	"HGMD: none; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149907310A>T"	""	"pathogenic"	"ACMG"
"0000868527"	"2"	"90"	"5"	"149286873"	"149286873"	"subst"	"0"	"00000"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1065 + 2T>A/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149907310A>T"	""	"pathogenic"	"ACMG"
"0000868528"	"2"	"90"	"5"	"149264342"	"149264342"	"subst"	"4.06306E-6"	"00000"	"PDE6A_000112"	"g.149264342C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1926 + 1G>A/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884779C>T"	""	"pathogenic"	"ACMG"
"0000868529"	"0"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"00000"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.2053G>A/p.V685M"	"HGMD: CM106644; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.149883511C>T"	""	"pathogenic"	"ACMG"
"0000868530"	"2"	"90"	"5"	"149286873"	"149286873"	"subst"	"0"	"00000"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1065 + 2T>A/p.?"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149907310A>T"	""	"pathogenic"	"ACMG"
"0000868531"	"2"	"90"	"5"	"149277972"	"149277974"	"delins"	"0"	"00000"	"PDE6A_000162"	"g.149277972_149277974delinsGG"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1359_1361delinsCC/ p.V454Qfs*5"	"HGMD: none; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149898409_149898411delinsGG"	""	"pathogenic"	"ACMG"
"0000868532"	"2"	"90"	"5"	"149264103"	"149264103"	"subst"	"4.0655E-6"	"00000"	"PDE6A_000109"	"g.149264103C>A"	""	"{PMID:Kuehlewein 2020:33057649}"	""	"PDE6A c.1966G>T/p.E656*"	"HGMD: CM1717824; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.149884540C>A"	""	"pathogenic"	"ACMG"
"0000868787"	"20"	"70"	"5"	"149278955"	"149278955"	"subst"	"0"	"04178"	"PDE6A_000199"	"g.149278955C>T"	"1/8 patients"	"{PMID:Li 2022:35033039}, {DOI:Li 2022:10.1186/s12886-021-02242-5}"	""	""	"not in 100 controls"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000868939"	"20"	"10"	"5"	"149277984"	"149277984"	"subst"	"0.000146407"	"00006"	"PDE6A_000064"	"g.149277984A>G"	""	"{PMID:Li 2022:35033039}, {DOI:Li 2022:10.1186/s12886-021-02242-5}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"benign"	""
"0000869980"	"3"	"70"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"04333"	"PDE6A_000053"	"g.149264112G>A"	""	"{PMID:Ben Yosef 2023:37287645}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.149884549G>A"	""	"pathogenic (recessive)"	""
"0000886677"	"0"	"50"	"5"	"149262996"	"149262996"	"subst"	"1.62656E-5"	"02327"	"PDE6A_000133"	"g.149262996C>T"	""	""	""	"PDE6A(NM_000440.3):c.2131G>A (p.V711I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886678"	"0"	"50"	"5"	"149274785"	"149274785"	"subst"	"8.12288E-6"	"02327"	"PDE6A_000134"	"g.149274785G>T"	""	""	""	"PDE6A(NM_000440.3):c.1689C>A (p.H563Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886679"	"0"	"30"	"5"	"149310690"	"149310690"	"subst"	"1.21872E-5"	"02330"	"PDE6A_000200"	"g.149310690C>T"	""	""	""	"PDE6A(NM_000440.3):c.759G>A (p.T253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886680"	"0"	"50"	"5"	"149314257"	"149314257"	"subst"	"8.52813E-5"	"02325"	"PDE6A_000201"	"g.149314257C>T"	""	""	""	"PDE6A(NM_000440.3):c.499G>A (p.D167N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886681"	"0"	"50"	"5"	"149323955"	"149323955"	"subst"	"0.000292509"	"02325"	"PDE6A_000025"	"g.149323955C>T"	""	""	""	"PDE6A(NM_000440.2):c.282G>A (p.M94I), PDE6A(NM_000440.3):c.282G>A (p.M94I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000905920"	"0"	"50"	"5"	"149247713"	"149247713"	"subst"	"0.000223405"	"00000"	"PDE6A_000011"	"g.149247713A>G"	""	"{PMID:Zhu 2022:35456422}"	""	"PDE6A c.2144T>C, p.(Met715Thr)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.149868150A>G"	""	"VUS"	"ACMG"
"0000912261"	"0"	"30"	"5"	"149275943"	"149275943"	"subst"	"8.12401E-6"	"02330"	"PDE6A_000205"	"g.149275943C>T"	""	""	""	"PDE6A(NM_000440.3):c.1596G>A (p.V532=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915787"	"3"	"70"	"5"	"149274789"	"149274789"	"subst"	"2.84294E-5"	"04436"	"PDE6A_000124"	"g.149274789C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1685G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000915803"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"04436"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.998+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915808"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"04436"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.998+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915813"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"04436"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.998+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915851"	"3"	"90"	"5"	"149294505"	"149294505"	"subst"	"2.8431E-5"	"04436"	"PDE6A_000040"	"g.149294505C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.998+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915852"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915879"	"3"	"70"	"5"	"149274790"	"149274790"	"subst"	"1.21842E-5"	"04436"	"PDE6A_000062"	"g.149274790G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1684C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916025"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"2.84361E-5"	"04436"	"PDE6A_000047"	"g.149323933G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916026"	"2"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"04436"	"PDE6A_000033"	"g.149263074C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2053G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916106"	"3"	"50"	"5"	"149263002"	"149263002"	"subst"	"0.000227631"	"04436"	"PDE6A_000032"	"g.149263002C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2125G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916146"	"1"	"70"	"5"	"149323932"	"149323932"	"subst"	"1.62491E-5"	"04436"	"PDE6A_000102"	"g.149323932C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.305G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916147"	"2"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"04436"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1705C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916153"	"1"	"90"	"5"	"149264095"	"149264114"	"dup"	"0"	"04436"	"PDE6A_000204"	"g.149264095_149264114dup"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1955_1974dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916154"	"2"	"50"	"5"	"149263004"	"149263004"	"subst"	"0"	"04436"	"PDE6A_000202"	"g.149263004T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2123A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916181"	"1"	"90"	"5"	"149286873"	"149286873"	"subst"	"0"	"04436"	"PDE6A_000163"	"g.149286873A>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1065+2T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916182"	"2"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"04436"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1705C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916222"	"3"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"04436"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1705C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916273"	"3"	"90"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"04436"	"PDE6A_000116"	"g.149275918C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1620+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916294"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916349"	"3"	"90"	"5"	"149275918"	"149275918"	"subst"	"4.06312E-6"	"04436"	"PDE6A_000116"	"g.149275918C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1620+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916401"	"1"	"50"	"5"	"0"	"0"	""	"0"	"04436"	"RAD50_000000"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(474+1_475-1)_(627+1_628-1)del"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916402"	"2"	"90"	"5"	"149245817"	"149245817"	"subst"	"0"	"04436"	"PDE6A_000167"	"g.149245817C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2275-1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916482"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916644"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916674"	"3"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"04436"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1705C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916685"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916703"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916704"	"2"	"70"	"5"	"149264041"	"149264041"	"subst"	"4.06461E-6"	"04436"	"PDE6A_000203"	"g.149264041C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2027+1G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916749"	"1"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"04436"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.304C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916750"	"2"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"04436"	"PDE6A_000001"	"g.149274769G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1705C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916756"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"04436"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.769C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000933369"	"0"	"90"	"5"	"149274769"	"149274769"	"subst"	"0.000117782"	"04552"	"PDE6A_000001"	"g.149274769G>T"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs139444207"	"0"	""	""	""	"{CV:2356}"	"pathogenic"	"ACMG"
"0000933370"	"0"	"90"	"5"	"149264112"	"149264112"	"subst"	"2.84696E-5"	"04552"	"PDE6A_000053"	"g.149264112G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs753942596"	"0"	""	""	""	"{CV:2356}"	"pathogenic"	"ACMG"
"0000933391"	"3"	"90"	"5"	"149263074"	"149263074"	"subst"	"5.28816E-5"	"04552"	"PDE6A_000033"	"g.149263074C>T"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs121909835"	"0"	""	""	""	"{CV:1028115}"	"pathogenic"	"ACMG"
"0000948508"	"0"	"30"	"5"	"149323752"	"149323752"	"subst"	"2.86179E-5"	"02330"	"PDE6A_000206"	"g.149323752G>A"	""	""	""	"PDE6A(NM_000440.3):c.474+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000958044"	"21"	"90"	"5"	"149264143"	"149264143"	"subst"	"0"	"00006"	"PDE6A_000193"	"g.149264143C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.149884580C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000958069"	"3"	"90"	"5"	"149310680"	"149310680"	"subst"	"3.25016E-5"	"00006"	"PDE6A_000003"	"g.149310680G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.149931117G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000958081"	"3"	"70"	"5"	"149274844"	"149274844"	"subst"	"8.12354E-6"	"00006"	"PDE6A_000105"	"g.149274844G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.149895281G>A"	"437982"	"likely pathogenic (recessive)"	"ACMG"
"0000958356"	"3"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00006"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.149944370G>T"	"193099"	"pathogenic (recessive)"	"ACMG"
"0000958438"	"11"	"90"	"5"	"149245757"	"149245760"	"del"	"0"	"00006"	"PDE6A_000132"	"g.149245757_149245760del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.149866194_149866197del"	"195462"	"pathogenic (recessive)"	"ACMG"
"0000958450"	"3"	"90"	"5"	"149286943"	"149286943"	"subst"	"0"	"00006"	"PDE6A_000208"	"g.149286943T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.149907380T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000958850"	"3"	"90"	"5"	"149310633"	"149310633"	"subst"	"0"	"00006"	"PDE6A_000210"	"g.149310633A>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.149931070A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000958997"	"0"	"70"	"5"	"149230182"	"149270203"	"dup"	"0"	"00006"	"RAD50_000000"	"g.149230182_149270203dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000959285"	"3"	"50"	"5"	"149310586"	"149310586"	"subst"	"0"	"00006"	"PDE6A_000209"	"g.149310586C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2"	"Germline"	""	""	"0"	""	""	"g.149931023C>A"	""	"VUS"	"ACMG"
"0000959315"	"0"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00006"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.149944370G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000959368"	"0"	"70"	"5"	"149260346"	"149263094"	"del"	"0"	"00006"	"PDE6A_000207"	"g.149260346_149263094del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.149880783_149883531del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000963523"	"0"	"90"	"5"	"149265939"	"149265939"	"subst"	"0"	"02327"	"PDE6A_000211"	"g.149265939T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976644"	"0"	"90"	"5"	"149265917"	"149265917"	"subst"	"0"	"02330"	"PDE6A_000035"	"g.149265917G>C"	""	""	""	"PDE6A(NM_000440.3):c.1749C>G (p.Y583*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976645"	"0"	"50"	"5"	"149310727"	"149310727"	"subst"	"0"	"02330"	"PDE6A_000212"	"g.149310727A>G"	""	""	""	"PDE6A(NM_000440.3):c.722T>C (p.L241P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014096"	"0"	"70"	"5"	"149274757"	"149274757"	"subst"	"1.62456E-5"	"02327"	"PDE6A_000195"	"g.149274757A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001017721"	"1"	"70"	"5"	"149324151"	"149324151"	"subst"	"0.000942813"	"00006"	"PDE6A_000213"	"g.149324151C>T"	""	"{PMID:Peng 2017:29040572}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149944588C>T"	""	"VUS"	""
"0001022278"	"1"	"70"	"5"	"149245817"	"149245817"	"subst"	"0"	"00006"	"PDE6A_000167"	"g.149245817C>T"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs1428612396"	"0"	""	""	"g.149866254C>T"	""	"likely pathogenic"	""
"0001022335"	"2"	"90"	"5"	"149323933"	"149323933"	"subst"	"0.000162492"	"00006"	"PDE6A_000048"	"g.149323933G>T"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs141252097"	"0"	""	""	"g.149944370G>T"	""	"pathogenic"	""
"0001035013"	"0"	"50"	"5"	"149314258"	"149314258"	"subst"	"0.00274529"	"01804"	"PDE6A_000024"	"g.149314258C>T"	""	""	""	"PDE6A(NM_000440.2):c.498G>A (p.V166=), PDE6A(NM_000440.3):c.498G>A (p.V166=, p.(Val166=))"	"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 PDE6A
## Count = 617
"{{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}}"
"0000019496"	"00015883"	"95"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000019497"	"00015883"	"95"	"1620"	"0"	"1620"	"0"	"c.1620G>A"	"r.(spl?)"	"p.(Glu540=)"	"12"
"0000036178"	"00015883"	"75"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000158322"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"4"
"0000158324"	"00015883"	"90"	"2098"	"0"	"2098"	"0"	"c.2098dup"	"r.(?)"	"p.(Tyr700Leufs*21)"	"17"
"0000158354"	"00015883"	"90"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(1408_1473del)"	"p.(Lys470_Leu491del)"	"10i"
"0000162785"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"4"
"0000162788"	"00015883"	"90"	"2028"	"-1"	"2028"	"-1"	"c.2028-1G>A"	"r.spl"	"p.?"	"16i"
"0000246405"	"00015883"	"50"	"1747"	"0"	"1747"	"0"	"c.1747T>A"	"r.(?)"	"p.(Tyr583Asn)"	""
"0000253523"	"00015883"	"10"	"2301"	"0"	"2301"	"0"	"c.2301T>C"	"r.(?)"	"p.(Asp767=)"	""
"0000255227"	"00015883"	"30"	"2136"	"-9"	"2136"	"-9"	"c.2136-9T>A"	"r.(=)"	"p.(=)"	""
"0000256337"	"00015883"	"50"	"2144"	"0"	"2144"	"0"	"c.2144T>C"	"r.(?)"	"p.(Met715Thr)"	""
"0000293595"	"00015883"	"10"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Ser34=)"	""
"0000293596"	"00015883"	"50"	"1237"	"0"	"1237"	"0"	"c.1237G>T"	"r.(?)"	"p.(Asp413Tyr)"	""
"0000293597"	"00015883"	"30"	"2028"	"-11"	"2028"	"-11"	"c.2028-11A>T"	"r.(=)"	"p.(=)"	""
"0000293598"	"00015883"	"50"	"2249"	"0"	"2249"	"0"	"c.2249G>A"	"r.(?)"	"p.(Arg750His)"	""
"0000293599"	"00015883"	"50"	"717"	"5"	"717"	"5"	"c.717+5G>A"	"r.spl?"	"p.?"	""
"0000293600"	"00015883"	"10"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000305333"	"00015883"	"30"	"1614"	"0"	"1614"	"0"	"c.1614A>G"	"r.(?)"	"p.(Pro538=)"	""
"0000305334"	"00015883"	"30"	"1662"	"0"	"1662"	"0"	"c.1662C>T"	"r.(?)"	"p.(Arg554=)"	""
"0000305335"	"00015883"	"10"	"177"	"0"	"177"	"0"	"c.177A>G"	"r.(?)"	"p.(Glu59=)"	""
"0000305336"	"00015883"	"50"	"2249"	"0"	"2249"	"0"	"c.2249G>A"	"r.(?)"	"p.(Arg750His)"	""
"0000305337"	"00015883"	"30"	"2512"	"0"	"2512"	"0"	"c.2512G>A"	"r.(?)"	"p.(Ala838Thr)"	""
"0000305338"	"00015883"	"50"	"2549"	"0"	"2549"	"0"	"c.2549G>T"	"r.(?)"	"p.(Gly850Val)"	""
"0000305339"	"00015883"	"50"	"282"	"0"	"282"	"0"	"c.282G>A"	"r.(?)"	"p.(Met94Ile)"	""
"0000305340"	"00015883"	"10"	"498"	"0"	"498"	"0"	"c.498G>A"	"r.(?)"	"p.(Val166=)"	""
"0000305342"	"00015883"	"50"	"88"	"0"	"88"	"0"	"c.88G>A"	"r.(?)"	"p.(Ala30Thr)"	""
"0000305343"	"00015883"	"90"	"906"	"0"	"906"	"0"	"c.906C>G"	"r.(?)"	"p.(Tyr302Ter)"	""
"0000305344"	"00015883"	"30"	"924"	"0"	"924"	"0"	"c.924G>A"	"r.(?)"	"p.(Pro308=)"	""
"0000339463"	"00015883"	"10"	"2424"	"0"	"2424"	"0"	"c.2424G>A"	"r.(?)"	"p.(Glu808=)"	""
"0000339464"	"00015883"	"10"	"2337"	"0"	"2337"	"0"	"c.2337T>C"	"r.(?)"	"p.(Phe779=)"	""
"0000339465"	"00015883"	"10"	"465"	"0"	"465"	"0"	"c.465C>T"	"r.(?)"	"p.(Asn155=)"	""
"0000339466"	"00015883"	"10"	"331"	"0"	"331"	"0"	"c.331A>C"	"r.(?)"	"p.(Arg111=)"	""
"0000341312"	"00015883"	"50"	"784"	"0"	"784"	"0"	"c.784G>A"	"r.(?)"	"p.(Ala262Thr)"	""
"0000341669"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Cys)"	""
"0000342440"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257Ter)"	""
"0000343653"	"00015883"	"10"	"647"	"0"	"647"	"0"	"c.647A>G"	"r.(?)"	"p.(Asn216Ser)"	""
"0000344060"	"00015883"	"50"	"959"	"0"	"959"	"0"	"c.959A>G"	"r.(?)"	"p.(Asp320Gly)"	""
"0000344904"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000345003"	"00015883"	"90"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Gln90Ter)"	""
"0000345527"	"00015883"	"50"	"2125"	"0"	"2125"	"0"	"c.2125G>A"	"r.(?)"	"p.(Glu709Lys)"	""
"0000346510"	"00015883"	"10"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(His655Tyr)"	""
"0000348955"	"00015883"	"70"	"1032"	"0"	"1032"	"0"	"c.1032C>A"	"r.(?)"	"p.(Ser344Arg)"	""
"0000350023"	"00015883"	"90"	"84"	"0"	"84"	"0"	"c.84C>G"	"r.(?)"	"p.(Tyr28Ter)"	""
"0000350144"	"00015883"	"90"	"1749"	"0"	"1749"	"0"	"c.1749C>G"	"r.(?)"	"p.(Tyr583Ter)"	""
"0000350145"	"00015883"	"50"	"1747"	"0"	"1747"	"0"	"c.1747T>A"	"r.(?)"	"p.(Tyr583Asn)"	""
"0000350711"	"00015883"	"50"	"1621"	"-9"	"1621"	"-9"	"c.1621-9T>A"	"r.(=)"	"p.(=)"	""
"0000350728"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl?"	"p.?"	""
"0000350927"	"00015883"	"10"	"2136"	"-17"	"2136"	"-17"	"c.2136-17G>T"	"r.(=)"	"p.(=)"	""
"0000350928"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl?"	"p.?"	""
"0000358304"	"00015883"	"90"	"2081"	"0"	"2085"	"0"	"c.2081_2085del"	"r.(?)"	"p.(Glu694Glyfs*25)"	"17"
"0000358305"	"00015883"	"90"	"1960"	"0"	"1960"	"0"	"c.1960C>T"	"r.(?)"	"p.(Gln654*)"	"16"
"0000358306"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	"16"
"0000358307"	"00015883"	"90"	"409"	"0"	"409"	"0"	"c.409delinsCT"	"r.(?)"	"p.(Asp137Leufs*12)"	"1"
"0000476426"	"00015883"	"50"	"2534"	"0"	"2534"	"0"	"c.2534A>T"	"r.(?)"	"p.(Asn845Ile)"	""
"0000476427"	"00015883"	"50"	"2512"	"0"	"2512"	"0"	"c.2512G>A"	"r.(?)"	"p.(Ala838Thr)"	""
"0000476428"	"00015883"	"50"	"2338"	"0"	"2338"	"0"	"c.2338G>A"	"r.(?)"	"p.(Val780Ile)"	""
"0000476429"	"00015883"	"50"	"2011"	"0"	"2011"	"0"	"c.2011C>T"	"r.(?)"	"p.(Leu671Phe)"	""
"0000476430"	"00015883"	"50"	"1966"	"0"	"1966"	"0"	"c.1966G>A"	"r.(?)"	"p.(Glu656Lys)"	""
"0000476431"	"00015883"	"50"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Cys)"	""
"0000476432"	"00015883"	"50"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	""
"0000476433"	"00015883"	"50"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582His)"	""
"0000476434"	"00015883"	"90"	"1684"	"0"	"1684"	"0"	"c.1684C>T"	"r.(?)"	"p.(Arg562Trp)"	""
"0000476435"	"00015883"	"50"	"1535"	"0"	"1535"	"0"	"c.1535C>T"	"r.(?)"	"p.(Pro512Leu)"	""
"0000476436"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl?"	"p.?"	""
"0000476437"	"00015883"	"50"	"1349"	"0"	"1349"	"0"	"c.1349T>C"	"r.(?)"	"p.(Phe450Ser)"	""
"0000476438"	"00015883"	"90"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(=)"	"p.(=)"	""
"0000476439"	"00015883"	"50"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000476440"	"00015883"	"90"	"784"	"0"	"784"	"0"	"c.784G>A"	"r.(?)"	"p.(Ala262Thr)"	""
"0000476441"	"00015883"	"50"	"733"	"0"	"733"	"0"	"c.733G>A"	"r.(?)"	"p.(Gly245Arg)"	""
"0000476442"	"00015883"	"50"	"472"	"0"	"472"	"0"	"c.472G>A"	"r.(?)"	"p.(Glu158Lys)"	""
"0000476443"	"00015883"	"50"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Ala106Thr)"	""
"0000476444"	"00015883"	"50"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000477488"	"00015883"	"50"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Cys)"	""
"0000477489"	"00015883"	"50"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000487570"	"00015883"	"90"	"2302"	"0"	"2302"	"0"	"c.2302G>T"	"r.(?)"	"p.(Glu768*)"	"19"
"0000524775"	"00015883"	"30"	"2549"	"0"	"2549"	"0"	"c.2549G>T"	"r.(?)"	"p.(Gly850Val)"	""
"0000524776"	"00015883"	"10"	"2507"	"-15"	"2507"	"-15"	"c.2507-15C>T"	"r.(=)"	"p.(=)"	""
"0000524777"	"00015883"	"90"	"2494"	"0"	"2506"	"0"	"c.2494_2506del"	"r.(?)"	"p.(Ser832GlnfsTer56)"	""
"0000524778"	"00015883"	"30"	"2479"	"0"	"2481"	"0"	"c.2479_2481del"	"r.(?)"	"p.(Lys827del)"	""
"0000524779"	"00015883"	"10"	"2301"	"0"	"2301"	"0"	"c.2301T>C"	"r.(?)"	"p.(Asp767=)"	""
"0000524780"	"00015883"	"50"	"2275"	"-5"	"2275"	"-5"	"c.2275-5G>A"	"r.spl?"	"p.?"	""
"0000524781"	"00015883"	"50"	"2252"	"0"	"2252"	"0"	"c.2252C>T"	"r.(?)"	"p.(Thr751Met)"	""
"0000524782"	"00015883"	"30"	"2200"	"-11"	"2200"	"-11"	"c.2200-11del"	"r.(=)"	"p.(=)"	""
"0000524783"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000524784"	"00015883"	"50"	"2040"	"0"	"2040"	"0"	"c.2040G>C"	"r.(?)"	"p.(Met680Ile)"	""
"0000524785"	"00015883"	"50"	"1952"	"0"	"1952"	"0"	"c.1952A>G"	"r.(?)"	"p.(Asn651Ser)"	""
"0000524786"	"00015883"	"50"	"1744"	"0"	"1744"	"0"	"c.1744C>T"	"r.(?)"	"p.(Arg582Cys)"	""
"0000524787"	"00015883"	"50"	"1579"	"0"	"1579"	"0"	"c.1579T>C"	"r.(?)"	"p.(Tyr527His)"	""
"0000524788"	"00015883"	"50"	"1576"	"0"	"1576"	"0"	"c.1576T>C"	"r.(?)"	"p.(Tyr526His)"	""
"0000524789"	"00015883"	"30"	"1546"	"0"	"1546"	"0"	"c.1546C>G"	"r.(?)"	"p.(Leu516Val)"	""
"0000524791"	"00015883"	"30"	"1474"	"-12"	"1474"	"-12"	"c.1474-12T>C"	"r.(=)"	"p.(=)"	""
"0000524792"	"00015883"	"10"	"1264"	"-16"	"1264"	"-16"	"c.1264-16T>A"	"r.(=)"	"p.(=)"	""
"0000524793"	"00015883"	"30"	"1086"	"0"	"1086"	"0"	"c.1086G>A"	"r.(?)"	"p.(Ala362=)"	""
"0000524794"	"00015883"	"30"	"918"	"0"	"918"	"0"	"c.918G>A"	"r.(?)"	"p.(Arg306=)"	""
"0000524795"	"00015883"	"30"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000524796"	"00015883"	"30"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000524797"	"00015883"	"30"	"718"	"-4"	"718"	"-4"	"c.718-4dup"	"r.spl?"	"p.?"	""
"0000524798"	"00015883"	"30"	"718"	"-4"	"718"	"-4"	"c.718-4dup"	"r.spl?"	"p.?"	""
"0000524799"	"00015883"	"50"	"397"	"0"	"397"	"0"	"c.397G>A"	"r.(?)"	"p.(Val133Ile)"	""
"0000524800"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000524801"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000524802"	"00015883"	"50"	"174"	"0"	"174"	"0"	"c.174C>A"	"r.(?)"	"p.(Ser58Arg)"	""
"0000524803"	"00015883"	"50"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Asp35Asn)"	""
"0000524804"	"00015883"	"50"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000609567"	"00015883"	"50"	"1802"	"0"	"1802"	"0"	"c.1802T>C"	"r.(?)"	"p.(Ile601Thr)"	""
"0000609568"	"00015883"	"30"	"1473"	"13"	"1473"	"13"	"c.1473+13G>A"	"r.(=)"	"p.(=)"	""
"0000609569"	"00015883"	"10"	"498"	"0"	"498"	"0"	"c.498G>A"	"r.(?)"	"p.(Val166=)"	""
"0000609570"	"00015883"	"30"	"177"	"0"	"177"	"0"	"c.177A>G"	"r.(?)"	"p.(Glu59=)"	""
"0000621504"	"00015883"	"10"	"933"	"4"	"933"	"4"	"c.933+4C>T"	"r.spl?"	"p.?"	""
"0000651647"	"00015883"	"30"	"2400"	"0"	"2400"	"0"	"c.2400C>T"	"r.(=)"	"p.(=)"	""
"0000651648"	"00015883"	"10"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(His655Tyr)"	""
"0000651650"	"00015883"	"10"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000655326"	"00015883"	"50"	"2036"	"0"	"2036"	"0"	"c.2036C>G"	"r.(?)"	"p.(Thr679Arg)"	""
"0000655327"	"00015883"	"30"	"1754"	"0"	"1754"	"0"	"c.1754C>T"	"r.(?)"	"p.(Thr585Met)"	""
"0000663589"	"00015883"	"30"	"718"	"-4"	"718"	"-4"	"c.718-4dup"	"r.(?)"	"p.?"	""
"0000669837"	"00015883"	"30"	"2400"	"0"	"2400"	"0"	"c.2400C>T"	"r.(=)"	"p.(=)"	""
"0000684547"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000684548"	"00015883"	"90"	"647"	"0"	"647"	"0"	"c.647A>G"	"r.(?)"	"p.(Asn216Ser)"	""
"0000684549"	"00015883"	"70"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000684636"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000684670"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.?"	""
"0000684671"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.?"	""
"0000684704"	"00015883"	"70"	"1283"	"0"	"1283"	"0"	"c.1283G>A"	"r.(?)"	"p.(Gly428Asp)"	""
"0000684705"	"00015883"	"70"	"1283"	"0"	"1283"	"0"	"c.1283G>A"	"r.(?)"	"p.(Gly428Asp)"	""
"0000685339"	"00015883"	"90"	"2506"	"1"	"2506"	"1"	"c.2506+1G>A"	"r.spl"	"p.?"	""
"0000685340"	"00015883"	"90"	"2081"	"0"	"2085"	"0"	"c.2081_2085del"	"r.(?)"	"p.(Glu694Glyfs*25)"	""
"0000685342"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000685343"	"00015883"	"70"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000685344"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000685345"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000685346"	"00015883"	"90"	"409"	"0"	"409"	"0"	"c.409delinsCT"	"r.(?)"	"p.(Asp137Leufs*12)"	""
"0000685347"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000686110"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000689458"	"00015883"	"50"	"2248"	"0"	"2248"	"0"	"c.2248C>T"	"r.(?)"	"p.(Arg750Cys)"	""
"0000689459"	"00015883"	"90"	"1408"	"0"	"1408"	"0"	"c.1408A>T"	"r.(?)"	"p.(Lys470Ter)"	""
"0000689460"	"00015883"	"30"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000710299"	"00015883"	"90"	"2302"	"0"	"2302"	"0"	"c.2302G>T"	"r.(?)"	"p.(Glu768*)"	""
"0000710316"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000710362"	"00015883"	"90"	"1684"	"0"	"1684"	"0"	"c.1684C>T"	"r.(?)"	"p.(Arg562Trp)"	""
"0000710801"	"00015883"	"70"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	"16"
"0000713246"	"00015883"	"90"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	""
"0000713258"	"00015883"	"90"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	""
"0000713396"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000713594"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000713688"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000720264"	"00015883"	"30"	"456"	"0"	"456"	"0"	"c.456C>T"	"r.(?)"	"p.(Asn152=)"	""
"0000720265"	"00015883"	"50"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000731000"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000731066"	"00015883"	"70"	"1620"	"2"	"1620"	"2"	"c.1620+2T>A"	"r.spl"	"p.?"	""
"0000732663"	"00015883"	"70"	"2027"	"5"	"2027"	"5"	"c.2027+5G>T"	"r.(del-exon)"	"p.?"	""
"0000732699"	"00015883"	"70"	"1966"	"0"	"1966"	"0"	"c.1966G>T"	"r.(?)"	"p.(Glu656*)"	""
"0000735164"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.(K470_L491del)"	""
"0000735832"	"00015883"	"70"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	""
"0000735833"	"00015883"	"70"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	""
"0000735840"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000735860"	"00015883"	"70"	"1268"	"0"	"1268"	"0"	"c.1268del"	"r.(?)"	"p.(Leu423Ter)"	""
"0000760080"	"00015883"	"50"	"1926"	"1"	"1926"	"1"	"c.1926+1G>A"	"r.spl"	"p.?"	""
"0000760346"	"00015883"	"50"	"367"	"0"	"367"	"0"	"c.367G>T"	"r.(?)"	"p.(Asp123Tyr)"	""
"0000760500"	"00015883"	"50"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Trp)"	""
"0000764039"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000764055"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653Ter)"	""
"0000764065"	"00015883"	"70"	"1620"	"1"	"1620"	"1"	"c.1620+1G>T"	"r.spl"	"p.?"	""
"0000765645"	"00015883"	"70"	"1268"	"0"	"1268"	"0"	"c.1268del"	"r.(?)"	"p.(Leu423Ter)"	"10"
"0000784140"	"00015883"	"70"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Cys)"	""
"0000784217"	"00015883"	"90"	"2198"	"0"	"2198"	"0"	"c.2198delinsGG"	"r.(?)"	"p.(Gln733ArgfsTer9)"	""
"0000784249"	"00015883"	"70"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	""
"0000784276"	"00015883"	"70"	"2249"	"0"	"2249"	"0"	"c.2249G>A"	"r.(?)"	"p.(Arg750His)"	""
"0000784346"	"00015883"	"70"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Cys)"	""
"0000784366"	"00015883"	"70"	"2249"	"0"	"2249"	"0"	"c.2249G>A"	"r.(?)"	"p.(Arg750His)"	""
"0000784389"	"00015883"	"70"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	""
"0000784391"	"00015883"	"70"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl"	"p.?"	""
"0000784464"	"00015883"	"50"	"457"	"0"	"457"	"0"	"c.457G>A"	"r.(?)"	"p.(Val153Ile)"	""
"0000784584"	"00015883"	"90"	"2198"	"0"	"2198"	"0"	"c.2198delinsGG"	"r.(?)"	"p.(Gln733ArgfsTer9)"	""
"0000785377"	"00015883"	"90"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.spl"	"p.?"	""
"0000785464"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000786462"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000786501"	"00015883"	"90"	"1336"	"0"	"1336"	"0"	"c.1336del"	"r.(?)"	"p.(Arg446GlyfsTer8)"	""
"0000787635"	"00015883"	"70"	"357"	"0"	"357"	"0"	"c.357del"	"r.(?)"	"p.(Val120SerfsTer7)"	""
"0000788475"	"00015883"	"50"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Cys)"	"16"
"0000790504"	"00015883"	"50"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(His655Tyr)"	""
"0000790567"	"00015883"	"50"	"2549"	"0"	"2549"	"0"	"c.2549G>T"	"r.(?)"	"p.(Gly850Val)"	""
"0000790642"	"00015883"	"50"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000792049"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000792050"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.(?)"	"p.?"	"7i"
"0000792051"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000792089"	"00015883"	"90"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	"1"
"0000792090"	"00015883"	"90"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	"1"
"0000792223"	"00015883"	"90"	"1675"	"0"	"1675"	"0"	"c.1675C>A"	"r.(?)"	"p.(His559Asn)"	"12"
"0000792224"	"00015883"	"90"	"1675"	"0"	"1675"	"0"	"c.1675C>A"	"r.(?)"	"p.(His559Asn)"	"12"
"0000793731"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	"1"
"0000793732"	"00015883"	"70"	"1166"	"0"	"1166"	"0"	"c.1166C>T"	"r.(?)"	"p.(Pro389Leu)"	"8"
"0000793748"	"00015883"	"10"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(His655Tyr)"	"15"
"0000794342"	"00015883"	"70"	"1685"	"0"	"1685"	"0"	"c.1685G>A"	"r.(?)"	"p.(Arg562Gln)"	"13"
"0000794343"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.?"	"10i"
"0000794344"	"00015883"	"70"	"1651"	"0"	"1651"	"0"	"c.1651A>G"	"r.(?)"	"p.(Lys551Glu)"	"13"
"0000794345"	"00015883"	"70"	"285"	"0"	"285"	"0"	"c.285C>A"	"r.(?)"	"p.(Ser95Arg)"	"1"
"0000794346"	"00015883"	"90"	"2275"	"-2"	"2275"	"-2"	"c.2275-2A>G"	"r.spl"	"p.?"	"19i"
"0000794347"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	"16"
"0000794755"	"00015883"	"70"	"948"	"0"	"948"	"0"	"c.948C>G"	"r.(?)"	"p.(Tyr316*)"	""
"0000794756"	"00015883"	"70"	"1283"	"0"	"1283"	"0"	"c.1283G>A"	"r.(?)"	"p.(Gly428Asp)"	""
"0000794824"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000794825"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000794984"	"00015883"	"50"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000795061"	"00015883"	"90"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	"12"
"0000795066"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"3"
"0000796242"	"00015883"	"90"	"205"	"0"	"205"	"0"	"c.205C>T"	"r.(?)"	"p.?"	"1"
"0000796259"	"00015883"	"90"	"2333"	"0"	"2333"	"0"	"c.2333A>T"	"r.?"	"p.(Asp778Val)"	"19"
"0000796260"	"00015883"	"90"	"1363"	"0"	"1363"	"0"	"c.1363A>T"	"r.?"	"p.(Lys455*)"	"10"
"0000796714"	"00015883"	"70"	"923"	"0"	"923"	"0"	"c.923C>T"	"r.(?)"	"p.(Pro308Leu)"	"5"
"0000796807"	"00015883"	"70"	"298"	"0"	"298"	"0"	"c.298C>T"	"r.(?)"	"p.(Arg100Trp)"	"1"
"0000796858"	"00015883"	"70"	"784"	"0"	"784"	"0"	"c.784G>A"	"r.(?)"	"p.(Ala262Thr)"	"3"
"0000797092"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000797162"	"00015883"	"50"	"2131"	"0"	"2131"	"0"	"c.2131G>A"	"r.(?)"	"p.(Val711Ile)"	"17"
"0000797163"	"00015883"	"70"	"1689"	"0"	"1689"	"0"	"c.1689C>A"	"r.(?)"	"p.(His563Gln)"	"13"
"0000797686"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000797709"	"00015883"	"90"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Gln352*)"	""
"0000797710"	"00015883"	"90"	"1287"	"0"	"1287"	"0"	"c.1287G>A"	"r.(?)"	"p.(Trp429*)"	""
"0000797711"	"00015883"	"70"	"612"	"0"	"612"	"0"	"c.612del"	"r.(?)"	"p.(Lys205Argfs*16)"	""
"0000797712"	"00015883"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000797713"	"00015883"	"90"	"2332"	"0"	"2335"	"0"	"c.2332_2335del"	"r.(?)"	"p.(Asp778Leufs*42)"	""
"0000797714"	"00015883"	"70"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl"	"p.(?)"	""
"0000797715"	"00015883"	"70"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl"	"p.(?)"	""
"0000797716"	"00015883"	"70"	"627"	"2"	"627"	"2"	"c.627+2T>G"	"r.spl"	"p.(?)"	""
"0000797717"	"00015883"	"70"	"1407"	"1"	"1407"	"1"	"c.1407+1G>A"	"r.spl"	"p.(?)"	""
"0000798041"	"00015883"	"70"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	""
"0000801960"	"00015883"	"30"	"2568"	"0"	"2568"	"0"	"c.2568C>T"	"r.(?)"	"p.(Ser856=)"	""
"0000801961"	"00015883"	"90"	"1380"	"0"	"1380"	"0"	"c.1380T>A"	"r.(?)"	"p.(Cys460*)"	""
"0000810849"	"00015883"	"10"	"859"	"-63"	"859"	"-63"	"c.859-63A>G"	"r.(=)"	"p.(=)"	"3i"
"0000810854"	"00015883"	"30"	"1927"	"-21"	"1927"	"-21"	"c.1927-21C>G"	"r.(=)"	"p.(=)"	"14i"
"0000810857"	"00015883"	"30"	"2507"	"-37"	"2507"	"-37"	"c.2507-37T>A"	"r.(=)"	"p.(=)"	"19i"
"0000810858"	"00015883"	"10"	"859"	"-63"	"859"	"-63"	"c.859-63A>G"	"r.(=)"	"p.(=)"	"3i"
"0000810863"	"00015883"	"50"	"367"	"0"	"367"	"0"	"c.367G>T"	"r.(?)"	"p.(Asp123Tyr)"	"1"
"0000810865"	"00015883"	"50"	"-42"	"0"	"-42"	"0"	"c.-42C>T"	"r.(?)"	"p.(=)"	"1"
"0000810867"	"00015883"	"50"	"1253"	"0"	"1253"	"0"	"c.1253C>T"	"r.(?)"	"p.(Thr418Met)"	"8"
"0000810871"	"00015883"	"50"	"1476"	"0"	"1476"	"0"	"c.1476A>Y"	"r.(?)"	"p.(Gln492His)"	"10"
"0000810873"	"00015883"	"30"	"2274"	"62"	"2274"	"62"	"c.2274+62A>G"	"r.(=)"	"p.(=)"	""
"0000810874"	"00015883"	"30"	"2200"	"-73"	"2200"	"-73"	"c.2200-73G>A"	"r.(=)"	"p.(=)"	"17i"
"0000810880"	"00015883"	"50"	"784"	"0"	"784"	"0"	"c.784G>A"	"r.(?)"	"p.(Ala262Thr)"	"3"
"0000810887"	"00015883"	"10"	"859"	"-63"	"859"	"-63"	"c.859-63A>G"	"r.(=)"	"p.(=)"	"3i"
"0000810888"	"00015883"	"30"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(His655Tyr)"	"15"
"0000810891"	"00015883"	"50"	"1476"	"0"	"1476"	"0"	"c.1476A>Y"	"r.(?)"	"p.(Gln492His)"	"10"
"0000810893"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	"16"
"0000810894"	"00015883"	"70"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	"5"
"0000810899"	"00015883"	"30"	"998"	"11"	"998"	"11"	"c.998+11C>T"	"r.(=)"	"p.(=)"	"7i"
"0000810900"	"00015883"	"30"	"1066"	"-57"	"1066"	"-57"	"c.1066-57A>G"	"r.(=)"	"p.(=)"	"6i"
"0000810905"	"00015883"	"70"	"933"	"4"	"933"	"4"	"c.933+4C>T"	"r.spl?"	"p.?"	"5i"
"0000810906"	"00015883"	"10"	"859"	"-63"	"859"	"-63"	"c.859-63A>G"	"r.(=)"	"p.(=)"	"3i"
"0000810907"	"00015883"	"30"	"2136"	"-17"	"2136"	"-17"	"c.2136-17G>T"	"r.(=)"	"p.(=)"	"16i"
"0000810911"	"00015883"	"30"	"2507"	"-37"	"2507"	"-37"	"c.2507-37T>A"	"r.(=)"	"p.(=)"	"19i"
"0000810918"	"00015883"	"70"	"1264"	"-30"	"1264"	"-25"	"c.1264-30_1264-25del"	"r.(=)"	"p.(=)"	""
"0000810923"	"00015883"	"30"	"2507"	"-37"	"2507"	"-37"	"c.2507-37T>A"	"r.(=)"	"p.(=)"	"19i"
"0000810926"	"00015883"	"30"	"2507"	"-37"	"2507"	"-37"	"c.2507-37T>A"	"r.(=)"	"p.(=)"	"19i"
"0000810929"	"00015883"	"70"	"933"	"4"	"933"	"4"	"c.933+4C>T"	"r.spl?"	"p.?"	"5i"
"0000810930"	"00015883"	"10"	"859"	"-63"	"859"	"-63"	"c.859-63A>G"	"r.(=)"	"p.(=)"	"3i"
"0000810937"	"00015883"	"50"	"-42"	"0"	"-42"	"0"	"c.-42C>T"	"r.(?)"	"p.(=)"	"1"
"0000810938"	"00015883"	"50"	"1476"	"0"	"1476"	"0"	"c.1476A>Y"	"r.(?)"	"p.(Gln492His)"	"10"
"0000811491"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.(?)"	""
"0000811492"	"00015883"	"90"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.(?)"	""
"0000811525"	"00015883"	"70"	"1283"	"0"	"1283"	"0"	"c.1283G>A"	"r.(?)"	"p.(Gly428Asp)"	""
"0000811526"	"00015883"	"70"	"1283"	"0"	"1283"	"0"	"c.1283G>A"	"r.(?)"	"p.(Gly428Asp)"	""
"0000811811"	"00015883"	"70"	"933"	"4"	"933"	"4"	"c.933+4C>T"	"r.spl?"	"p.(?)"	""
"0000811818"	"00015883"	"70"	"933"	"4"	"933"	"4"	"c.933+4C>T"	"r.spl?"	"p.(?)"	""
"0000811826"	"00015883"	"70"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	""
"0000811836"	"00015883"	"70"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	""
"0000811850"	"00015883"	"70"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.(?)"	""
"0000811851"	"00015883"	"70"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.(?)"	""
"0000811875"	"00015883"	"70"	"1936"	"0"	"1936"	"0"	"c.1936A>G"	"r.(?)"	"p.(Ile646Val)"	""
"0000812020"	"00015883"	"70"	"784"	"0"	"784"	"0"	"c.784G>A"	"r.(?)"	"p.(Ala262Thr)"	"4"
"0000812072"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	"1"
"0000812090"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000812091"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	"16"
"0000812142"	"00015883"	"70"	"998"	"2"	"998"	"2"	"c.998+2T>G"	"r.(?)"	"p.(?)"	"6i"
"0000812143"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	"16"
"0000812189"	"00015883"	"70"	"533"	"0"	"533"	"0"	"c.533T>A"	"r.(?)"	"p.(Leu178*)"	"2"
"0000812190"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	"16"
"0000812191"	"00015883"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	"1"
"0000812294"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	"16"
"0000812319"	"00015883"	"70"	"5858"	"0"	"5858"	"0"	"c.5858C>G"	"r.(?)"	"p.(Ala1953Gly)"	"30"
"0000812320"	"00015883"	"70"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Pro293Leu)"	"5"
"0000812336"	"00015883"	"70"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	"13"
"0000812415"	"00015883"	"70"	"1250"	"0"	"1250"	"0"	"c.1250A>G"	"r.(?)"	"p.(Glu417Gly)"	"9"
"0000814269"	"00015883"	"70"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.(?)"	"p.(?)"	""
"0000815432"	"00015883"	"50"	"763"	"0"	"763"	"0"	"c.763A>G"	"r.(?)"	"p.(Ile255Val)"	""
"0000815533"	"00015883"	"90"	"1113"	"1"	"1113"	"1"	"c.1113+1G>A"	"r.spl"	"p.(?)"	""
"0000815717"	"00015883"	"50"	"1778"	"0"	"1778"	"0"	"c.1778T>A"	"r.(?)"	"p.(Val593Asp)"	""
"0000815985"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000815997"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000816024"	"00015883"	"70"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl"	"p.(?)"	""
"0000816050"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000816140"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000816329"	"00015883"	"70"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000816340"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Cys)"	""
"0000816366"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000816387"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000816453"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000816749"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Cys)"	""
"0000816750"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000816751"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Cys)"	""
"0000816840"	"00015883"	"70"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000816841"	"00015883"	"70"	"2263"	"0"	"2263"	"0"	"c.2263C>T"	"r.(?)"	"p.(Gln755*)"	""
"0000816842"	"00015883"	"70"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000819442"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000819443"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000819692"	"00015883"	"70"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000819913"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000820103"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000820111"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000820331"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000820423"	"00015883"	"70"	"676"	"0"	"676"	"0"	"c.676del"	"r.(?)"	"p.(His226Thrfs*2)"	""
"0000820467"	"00015883"	"70"	"38"	"0"	"38"	"0"	"c.38T>A"	"r.(?)"	"p.(Leu13Gln)"	""
"0000820468"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000820512"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000820513"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000820532"	"00015883"	"70"	"2083"	"0"	"2083"	"0"	"c.2083C>T"	"r.(?)"	"p.(Gln695*)"	""
"0000820573"	"00015883"	"70"	"1610"	"0"	"1610"	"0"	"c.1610T>C"	"r.(?)"	"p.(Ile537Thr)"	""
"0000820576"	"00015883"	"70"	"1926"	"1"	"1926"	"1"	"c.1926+1G>A"	"r.spl"	"p.(?)"	""
"0000820816"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000820863"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000820911"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000820928"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000820950"	"00015883"	"70"	"1956"	"0"	"1957"	"0"	"c.1956_1957ins20"	"r.(?)"	"p.(?)"	""
"0000820951"	"00015883"	"70"	"1359"	"0"	"1361"	"0"	"c.1359_1361delinsCC"	"r.(?)"	"p.(Val454Glnfs*5)"	""
"0000820959"	"00015883"	"70"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.spl"	"p.(?)"	""
"0000820982"	"00015883"	"70"	"743"	"0"	"743"	"0"	"c.743T>A"	"r.(?)"	"p.(Val248Asp)"	""
"0000821321"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000821322"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000822107"	"00015883"	"70"	"2549"	"0"	"2549"	"0"	"c.2549G>T"	"r.(?)"	"p.(Gly850Val)"	"20"
"0000822108"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000822109"	"00015883"	"70"	"647"	"0"	"647"	"0"	"c.647A>G"	"r.(?)"	"p.(Asn216Ser)"	"2"
"0000823239"	"00015883"	"50"	"205"	"0"	"205"	"0"	"c.205C>T"	"r.(?)"	"p.(Gln69*)"	""
"0000823240"	"00015883"	"50"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000823279"	"00015883"	"50"	"2275"	"-1"	"2275"	"-1"	"c.2275-1G>A"	"r.spl"	"p.(?)"	""
"0000823280"	"00015883"	"50"	"2198"	"0"	"2198"	"0"	"c.2198A>G"	"r.(?)"	"p.(Gln733Arg)"	""
"0000824668"	"00015883"	"50"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000824765"	"00015883"	"50"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Gly142Asp)"	""
"0000825679"	"00015883"	"70"	"1685"	"0"	"1685"	"0"	"c.1685G>A"	"r.?"	"p.(Arg562Gln)"	"12"
"0000825680"	"00015883"	"70"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.(?)"	"p.?"	"10i"
"0000825755"	"00015883"	"70"	"1651"	"0"	"1651"	"0"	"c.1651A>G"	"r.?"	"p.(Lys551Glu)"	"12"
"0000825756"	"00015883"	"70"	"285"	"0"	"285"	"0"	"c.285C>A"	"r.?"	"p.(Ser95Arg)"	"1"
"0000825757"	"00015883"	"70"	"2275"	"-2"	"2275"	"-2"	"c.2275-2A>G"	"r.(?)"	"p.?"	"18i"
"0000825758"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.?"	"p.(Arg653*)"	"15"
"0000825937"	"00015883"	"70"	"1747"	"0"	"1747"	"0"	"c.1747T>A"	"r.?"	"p.(Tyr583Asn)"	"13"
"0000825938"	"00015883"	"70"	"1651"	"0"	"1651"	"0"	"c.1651A>G"	"r.?"	"p.(Lys551Glu)"	"12"
"0000826940"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000826941"	"00015883"	"70"	"1621"	"-6"	"1621"	"-6"	"c.1621-6T>G"	"r.spl?"	"p.(?)"	""
"0000826942"	"00015883"	"70"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000826943"	"00015883"	"70"	"1621"	"-6"	"1621"	"-6"	"c.1621-6T>G"	"r.spl?"	"p.(?)"	""
"0000827298"	"00015883"	"90"	"2358"	"1"	"2358"	"1"	"c.2358+1G>A"	"r.spl?"	"p.?"	"19i"
"0000827299"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000827300"	"00015883"	"90"	"2100"	"0"	"2122"	"0"	"c.2100_2122del"	"r.(?)"	"p.(Tyr700*)"	"17"
"0000827301"	"00015883"	"90"	"2277"	"0"	"2277"	"0"	"c.2277del"	"r.(?)"	"p.(Met760*)"	"19"
"0000827302"	"00015883"	"70"	"1166"	"0"	"1166"	"0"	"c.1166C>T"	"r.(?)"	"p.(Pro389Leu)"	"8"
"0000827303"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	"16"
"0000827304"	"00015883"	"90"	"676"	"0"	"676"	"0"	"c.676del"	"r.(?)"	"p.(His226Thrfs*2)"	"2"
"0000827305"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000827306"	"00015883"	"90"	"2358"	"1"	"2358"	"1"	"c.2358+1G>A"	"r.spl?"	"p.?"	"19i"
"0000827307"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000829848"	"00015883"	"90"	"166"	"0"	"166"	"0"	"c.166G>T"	"r.(?)"	"p.(Glu56*)"	"1"
"0000832884"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Cys)"	""
"0000832885"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Cys)"	""
"0000832886"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Cys)"	""
"0000832888"	"00015883"	"70"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000832889"	"00015883"	"10"	"647"	"0"	"647"	"0"	"c.647A>G"	"r.(?)"	"p.(Asn216Ser)"	""
"0000832890"	"00015883"	"70"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Ser303Cys)"	""
"0000832891"	"00015883"	"10"	"647"	"0"	"647"	"0"	"c.647A>G"	"r.(?)"	"p.(Asn216Ser)"	""
"0000832892"	"00015883"	"70"	"908"	"0"	"908"	"0"	"c.908C>G"	"r.(?)"	"p.(Asn216Ser)"	""
"0000832893"	"00015883"	"10"	"647"	"0"	"647"	"0"	"c.647A>G"	"r.(?)"	"p.(Asn216Ser)"	""
"0000833014"	"00015883"	"70"	"1604"	"0"	"1604"	"0"	"c.1604T>A"	"r.(?)"	"p.(Ile535Asn)"	""
"0000833015"	"00015883"	"70"	"1604"	"0"	"1604"	"0"	"c.1604T>A"	"r.(?)"	"p.(Ile535Asn)"	""
"0000833250"	"00015883"	"90"	"823"	"0"	"824"	"0"	"c.823_824del"	"r.(?)"	"p.(Tyr275Leufs*15)"	"4"
"0000833251"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000833252"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000833253"	"00015883"	"90"	"1268"	"0"	"1268"	"0"	"c.1268del"	"r.(?)"	"p.(Leu423*)"	"10"
"0000833254"	"00015883"	"90"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	"1"
"0000833255"	"00015883"	"90"	"1268"	"0"	"1268"	"0"	"c.1268del"	"r.(?)"	"p.(Leu423*)"	"10"
"0000833256"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833257"	"00015883"	"90"	"1683"	"0"	"1683"	"0"	"c.1683G>A"	"r.(?)"	"p.(Trp561*)"	"13"
"0000833258"	"00015883"	"90"	"205"	"0"	"205"	"0"	"c.205C>T"	"r.(?)"	"p.(Gln69*)"	"1"
"0000833259"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	"6"
"0000833260"	"00015883"	"90"	"1268"	"0"	"1268"	"0"	"c.1268del"	"r.(?)"	"p.(Leu423*)"	"10"
"0000833261"	"00015883"	"90"	"1268"	"0"	"1268"	"0"	"c.1268del"	"r.(?)"	"p.(Leu423*)"	"10"
"0000833262"	"00015883"	"90"	"1065"	"1"	"1065"	"1"	"c.1065+1G>T"	"r.spl"	"p.(?)"	"7"
"0000833263"	"00015883"	"90"	"1474"	"-1"	"1474"	"-1"	"c.1474-1G>A"	"r.spl"	"p.(?)"	"11"
"0000833264"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000833265"	"00015883"	"70"	"2125"	"0"	"2125"	"0"	"c.2125G>A"	"r.(?)"	"p.(Glu709Lys)"	"17"
"0000833266"	"00015883"	"90"	"1351"	"0"	"1351"	"0"	"c.1351C>T"	"r.(?)"	"p.(Gln451*)"	"10"
"0000833267"	"00015883"	"90"	"1351"	"0"	"1351"	"0"	"c.1351C>T"	"r.(?)"	"p.(Gln451*)"	"10"
"0000833268"	"00015883"	"90"	"1724"	"0"	"1724"	"0"	"c.1724T>C"	"r.(?)"	"p.(Leu575Pro)"	"13"
"0000833269"	"00015883"	"90"	"1724"	"0"	"1724"	"0"	"c.1724T>C"	"r.(?)"	"p.(Leu575Pro)"	"13"
"0000833270"	"00015883"	"90"	"1724"	"0"	"1724"	"0"	"c.1724T>C"	"r.(?)"	"p.(Leu575Pro)"	"13"
"0000833271"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833309"	"00015883"	"90"	"1236"	"0"	"1236"	"0"	"c.1236del"	"r.(?)"	"p.(Phe412Leufs*12)"	"9"
"0000833310"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833311"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833312"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833313"	"00015883"	"90"	"2233"	"0"	"2233"	"0"	"c.2233C>T"	"r.(?)"	"p.(Gln745*)"	"19"
"0000833314"	"00015883"	"90"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.spl"	"p.(?)"	"7"
"0000833315"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833316"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833317"	"00015883"	"90"	"1072"	"0"	"1072"	"0"	"c.1072A>T"	"r.(?)"	"p.(Asn358Tyr)"	"8"
"0000833318"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"13"
"0000833319"	"00015883"	"70"	"2368"	"0"	"2368"	"0"	"c.2368C>T"	"r.(?)"	"p.(Arg790Cys)"	"21"
"0000833320"	"00015883"	"90"	"2318"	"0"	"2319"	"0"	"c.2318_2319del"	"r.(?)"	"p.(Gln773Argfs*5)"	"20"
"0000833321"	"00015883"	"90"	"1351"	"0"	"1351"	"0"	"c.1351C>T"	"r.(?)"	"p.(Gln451*)"	"10"
"0000833322"	"00015883"	"90"	"1966"	"0"	"1966"	"0"	"c.1966G>T"	"r.(?)"	"p.(Glu656*)"	"16"
"0000833334"	"00015883"	"70"	"2366"	"0"	"2366"	"0"	"c.2366C>T"	"r.(?)"	"p.(Ser789Phe)"	"21"
"0000840243"	"00015883"	"30"	"251"	"0"	"251"	"0"	"c.251A>T"	"r.(?)"	"p.(Lys84Met)"	"1"
"0000840248"	"00015883"	"30"	"1214"	"0"	"1214"	"0"	"c.1214A>G"	"r.(?)"	"p.(Asn405Ser)"	"8"
"0000846460"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000850835"	"00015883"	"50"	"497"	"0"	"497"	"0"	"c.497T>C"	"r.(?)"	"p.(Val166Ala)"	""
"0000859813"	"00015883"	"50"	"2131"	"0"	"2131"	"0"	"c.2131G>A"	"r.(?)"	"p.(Val711Ile)"	""
"0000859814"	"00015883"	"50"	"1838"	"3"	"1838"	"3"	"c.1838+3G>C"	"r.spl?"	"p.?"	""
"0000859815"	"00015883"	"50"	"1689"	"0"	"1689"	"0"	"c.1689C>A"	"r.(?)"	"p.(His563Gln)"	""
"0000859816"	"00015883"	"30"	"156"	"0"	"156"	"0"	"c.156G>A"	"r.(?)"	"p.(Pro52=)"	""
"0000868390"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000868391"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000868392"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868393"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868394"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868395"	"00015883"	"70"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868396"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868397"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868398"	"00015883"	"70"	"1717"	"0"	"1717"	"0"	"c.1717T>C"	"r.(?)"	"p.(Ser573Pro)"	""
"0000868399"	"00015883"	"70"	"1717"	"0"	"1717"	"0"	"c.1717T>C"	"r.(?)"	"p.(Ser573Pro)"	""
"0000868400"	"00015883"	"70"	"1749"	"0"	"1749"	"0"	"c.1749C>G"	"r.(?)"	"p.(Tyr583*)"	""
"0000868401"	"00015883"	"70"	"1683"	"0"	"1683"	"0"	"c.1683G>A"	"r.(?)"	"p.(Trp561*)"	""
"0000868402"	"00015883"	"70"	"1683"	"0"	"1683"	"0"	"c.1683G>A"	"r.(?)"	"p.(Trp561*)"	""
"0000868403"	"00015883"	"70"	"1032"	"0"	"1032"	"0"	"c.1032C>A"	"r.(?)"	"p.(Ser334Arg)"	""
"0000868404"	"00015883"	"70"	"1032"	"0"	"1032"	"0"	"c.1032C>A"	"r.(?)"	"p.(Ser334Arg)"	""
"0000868405"	"00015883"	"70"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"4"
"0000868406"	"00015883"	"70"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"4"
"0000868407"	"00015883"	"70"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"4"
"0000868408"	"00015883"	"70"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"4"
"0000868409"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.spl"	"p.?"	"11"
"0000868410"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.spl"	"p.?"	"11"
"0000868411"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.spl"	"p.?"	"11"
"0000868412"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.spl"	"p.?"	"11"
"0000868413"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.spl"	"p.?"	"11"
"0000868414"	"00015883"	"70"	"2098"	"0"	"2098"	"0"	"c.2098dup"	"r.(?)"	"p.(Tyr700Leufs*21)"	"17"
"0000868415"	"00015883"	"70"	"2098"	"0"	"2098"	"0"	"c.2098dup"	"r.(?)"	"p.(Tyr700Leufs*21)"	"17"
"0000868416"	"00015883"	"70"	"2098"	"0"	"2098"	"0"	"c.2098dup"	"r.(?)"	"p.(Tyr700Leufs*21)"	"17"
"0000868418"	"00015883"	"70"	"2028"	"-1"	"2028"	"-1"	"c.2028-1G>A"	"r.(?)"	"p.?"	""
"0000868419"	"00015883"	"70"	"2028"	"-1"	"2028"	"-1"	"c.2028-1G>A"	"r.(?)"	"p.?"	""
"0000868420"	"00015883"	"70"	"2028"	"-1"	"2028"	"-1"	"c.2028-1G>A"	"r.(?)"	"p.?"	""
"0000868421"	"00015883"	"70"	"2028"	"-1"	"2028"	"-1"	"c.2028-1G>A"	"r.(?)"	"p.?"	""
"0000868422"	"00015883"	"70"	"2028"	"-1"	"2028"	"-1"	"c.2028-1G>A"	"r.(?)"	"p.?"	""
"0000868423"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868424"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868425"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868426"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868427"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868428"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868429"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868430"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868431"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868432"	"00015883"	"70"	"1408"	"-2"	"1408"	"-2"	"c.1408-2A>G"	"r.(?)"	"p.?"	""
"0000868434"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868435"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868436"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868437"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868438"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868439"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868440"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868441"	"00015883"	"70"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.(?)"	""
"0000868442"	"00015883"	"70"	"1407"	"1"	"1407"	"1"	"c.1407+1G>C"	"r.spl"	"p.?"	""
"0000868443"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000868444"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000868445"	"00015883"	"70"	"1268"	"0"	"1268"	"0"	"c.1268delT"	"r.(?)"	"p.(Leu423*)"	""
"0000868449"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868450"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000868451"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868452"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868453"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868454"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868455"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868456"	"00015883"	"90"	"1684"	"0"	"1684"	"0"	"c.1684C>T"	"r.(?)"	"p.(Arg562Trp)"	""
"0000868457"	"00015883"	"70"	"1927"	"-1"	"1927"	"-1"	"c.1927-1G>T"	"r.spl"	"p.?"	""
"0000868458"	"00015883"	"90"	"1683"	"0"	"1683"	"0"	"c.1683G>A"	"r.(?)"	"p.(Trp561*)"	""
"0000868459"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.?"	""
"0000868460"	"00015883"	"90"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl"	"p.?"	""
"0000868461"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868462"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000868463"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.(?)"	"p.?"	""
"0000868464"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868465"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868466"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868467"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868468"	"00015883"	"50"	"1610"	"0"	"1610"	"0"	"c.1610T>C"	"r.(?)"	"p.(Ile537Thr)"	""
"0000868469"	"00015883"	"70"	"1862"	"0"	"1862"	"0"	"c.1862T>G"	"r.(?)"	"p.(Leu621Arg)"	""
"0000868470"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868471"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000868472"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.?"	""
"0000868473"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868474"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868475"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.?"	""
"0000868476"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868477"	"00015883"	"70"	"612"	"0"	"612"	"0"	"c.612del"	"r.(?)"	"p.(Lys205Argfs*16)"	""
"0000868478"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868479"	"00015883"	"90"	"1926"	"1"	"1926"	"1"	"c.1926+1G>A"	"r.spl"	"p.?"	""
"0000868480"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000868481"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000868482"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000868483"	"00015883"	"50"	"959"	"0"	"959"	"0"	"c.959A>G"	"r.(?)"	"p.(Asp320Gly)"	""
"0000868484"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868485"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000868486"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000868487"	"00015883"	"70"	"2083"	"0"	"2083"	"0"	"c.2083C>T"	"r.(?)"	"p.(Gln695*)"	""
"0000868488"	"00015883"	"90"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000868489"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000868490"	"00015883"	"70"	"1166"	"0"	"1166"	"0"	"c.1166C>T"	"r.(?)"	"p.(Pro389Leu)"	""
"0000868491"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868492"	"00015883"	"70"	"63"	"0"	"68"	"0"	"c.63_68del"	"r.(?)"	"p.(Lys21_Tyr23delinsAsn)"	""
"0000868493"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	""
"0000868494"	"00015883"	"70"	"676"	"0"	"676"	"0"	"c.676del"	"r.(?)"	"p.(His226Thrfs*2)"	""
"0000868495"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.?"	""
"0000868496"	"00015883"	"70"	"627"	"2"	"627"	"2"	"c.627+2T>G"	"r.(?)"	"p.?"	""
"0000868497"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868498"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.?"	""
"0000868499"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl"	"p.?"	""
"0000868500"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868501"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868502"	"00015883"	"70"	"84"	"0"	"84"	"0"	"c.84C>G"	"r.(?)"	"p.(Tyr28*)"	""
"0000868503"	"00015883"	"90"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	""
"0000868504"	"00015883"	"50"	"1235"	"0"	"1235"	"0"	"c.1235T>C"	"r.(?)"	"p.(Phe412Ser)"	""
"0000868505"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868506"	"00015883"	"90"	"998"	"2"	"998"	"2"	"c.998+2T>G"	"r.spl"	"p.?"	""
"0000868507"	"00015883"	"70"	"1689"	"0"	"1689"	"0"	"c.1689C>A"	"r.(?)"	"p.(His563Gln)"	""
"0000868508"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868509"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868510"	"00015883"	"90"	"2332"	"0"	"2335"	"0"	"c.2332_2335del"	"r.(?)"	"p.(Asp778Leufs*42)"	""
"0000868511"	"00015883"	"90"	"1263"	"1"	"1263"	"1"	"c.1263+1G>A"	"r.spl"	"p.?"	""
"0000868512"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868513"	"00015883"	"70"	"1689"	"0"	"1689"	"0"	"c.1689C>A"	"r.(?)"	"p.(His563Gln)"	""
"0000868514"	"00015883"	"90"	"1966"	"0"	"1966"	"0"	"c.1966G>T"	"r.(?)"	"p.(Glu656*)"	""
"0000868515"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868516"	"00015883"	"70"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000868517"	"00015883"	"50"	"743"	"0"	"743"	"0"	"c.743T>A"	"r.(?)"	"p.(Val248Asp)"	""
"0000868518"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868519"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868520"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868521"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868522"	"00015883"	"90"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.spl"	"p.?"	""
"0000868523"	"00015883"	"90"	"2332"	"0"	"2335"	"0"	"c.2332_2335del"	"r.(?)"	"p.(Asp778Leufs*42)"	""
"0000868524"	"00015883"	"70"	"1749"	"0"	"1749"	"0"	"c.1749C>G"	"r.(?)"	"p.(Tyr583*)"	""
"0000868525"	"00015883"	"90"	"1956"	"0"	"1957"	"0"	"c.1956_1957insTGACAGCATGAGCATGCCGT"	"r.(?)"	"p.(Arg653*)"	""
"0000868526"	"00015883"	"90"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.(?)"	"p.?"	""
"0000868527"	"00015883"	"90"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.spl"	"p.?"	""
"0000868528"	"00015883"	"90"	"1926"	"1"	"1926"	"1"	"c.1926+1G>A"	"r.spl"	"p.?"	""
"0000868529"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000868530"	"00015883"	"90"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.spl"	"p.?"	""
"0000868531"	"00015883"	"90"	"1359"	"0"	"1361"	"0"	"c.1359_1361delinsCC"	"r.(?)"	"p.(Val454Glnfs*5)"	""
"0000868532"	"00015883"	"90"	"1966"	"0"	"1966"	"0"	"c.1966G>T"	"r.(?)"	"p.(Glu656*)"	""
"0000868787"	"00015883"	"70"	"1246"	"0"	"1246"	"0"	"c.1246G>A"	"r.(?)"	"p.(Asp416Asn)"	""
"0000868939"	"00015883"	"10"	"1349"	"0"	"1349"	"0"	"c.1349T>C"	"r.(?)"	"p.(Phe450Ser)"	""
"0000869980"	"00015883"	"70"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000886677"	"00015883"	"50"	"2131"	"0"	"2131"	"0"	"c.2131G>A"	"r.(?)"	"p.(Val711Ile)"	""
"0000886678"	"00015883"	"50"	"1689"	"0"	"1689"	"0"	"c.1689C>A"	"r.(?)"	"p.(His563Gln)"	""
"0000886679"	"00015883"	"30"	"759"	"0"	"759"	"0"	"c.759G>A"	"r.(?)"	"p.(Thr253=)"	""
"0000886680"	"00015883"	"50"	"499"	"0"	"499"	"0"	"c.499G>A"	"r.(?)"	"p.(Asp167Asn)"	""
"0000886681"	"00015883"	"50"	"282"	"0"	"282"	"0"	"c.282G>A"	"r.(?)"	"p.(Met94Ile)"	""
"0000905920"	"00015883"	"50"	"2144"	"0"	"2144"	"0"	"c.2144T>C"	"r.(?)"	"p.(Met715Thr)"	""
"0000912261"	"00015883"	"30"	"1596"	"0"	"1596"	"0"	"c.1596G>A"	"r.(?)"	"p.(Val532=)"	""
"0000915787"	"00015883"	"70"	"1685"	"0"	"1685"	"0"	"c.1685G>A"	"r.(?)"	"p.(Arg562Gln)"	"12"
"0000915803"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl?"	"p.(?)"	"7i"
"0000915808"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl?"	"p.(?)"	"7i"
"0000915813"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl?"	"p.(?)"	"7i"
"0000915851"	"00015883"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>A"	"r.spl?"	"p.(?)"	"7i"
"0000915852"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000915879"	"00015883"	"70"	"1684"	"0"	"1684"	"0"	"c.1684C>T"	"r.(?)"	"p.(Arg562Trp)"	"12"
"0000916025"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Cys)"	"1"
"0000916026"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	"16"
"0000916106"	"00015883"	"50"	"2125"	"0"	"2125"	"0"	"c.2125G>A"	"r.(?)"	"p.(Glu709Lys)"	"17"
"0000916146"	"00015883"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102His)"	"1"
"0000916147"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000916153"	"00015883"	"90"	"1955"	"0"	"1974"	"0"	"c.1955_1974dup"	"r.(?)"	"p.(Ile659Valfs*10)"	"15"
"0000916154"	"00015883"	"50"	"2123"	"0"	"2123"	"0"	"c.2123A>T"	"r.(?)"	"p.(Lys708Met)"	"17"
"0000916181"	"00015883"	"90"	"1065"	"2"	"1065"	"2"	"c.1065+2T>A"	"r.spl?"	"p.(?)"	"7i"
"0000916182"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000916222"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000916273"	"00015883"	"90"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl?"	"p.(?)"	"12i"
"0000916294"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000916349"	"00015883"	"90"	"1620"	"1"	"1620"	"1"	"c.1620+1G>A"	"r.spl?"	"p.(?)"	"12i"
"0000916401"	"00015883"	"50"	"475"	"-1"	"627"	"1"	"c.(474+1_475-1)_(627+1_628-1)del"	"r.?"	"p.(Asp159_Glu209del)"	""
"0000916402"	"00015883"	"90"	"2275"	"-1"	"2275"	"-1"	"c.2275-1G>A"	"r.spl?"	"p.(?)"	"18i"
"0000916482"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000916644"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000916674"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000916685"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000916703"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000916704"	"00015883"	"70"	"2027"	"1"	"2027"	"1"	"c.2027+1G>T"	"r.spl?"	"p.(?)"	"16i"
"0000916749"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	"1"
"0000916750"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	"12"
"0000916756"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257*)"	"3"
"0000933369"	"00015883"	"90"	"1705"	"0"	"1705"	"0"	"c.1705C>A"	"r.(?)"	"p.(Gln569Lys)"	""
"0000933370"	"00015883"	"90"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653*)"	""
"0000933391"	"00015883"	"90"	"2053"	"0"	"2053"	"0"	"c.2053G>A"	"r.(?)"	"p.(Val685Met)"	""
"0000948508"	"00015883"	"30"	"474"	"11"	"474"	"11"	"c.474+11C>T"	"r.(=)"	"p.(=)"	""
"0000958044"	"00015883"	"90"	"1927"	"-1"	"1927"	"-1"	"c.1927-1G>T"	"r.spl"	"p.?"	""
"0000958069"	"00015883"	"90"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257Ter)"	""
"0000958081"	"00015883"	"70"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544Trp)"	""
"0000958356"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000958438"	"00015883"	"90"	"2332"	"0"	"2335"	"0"	"c.2332_2335del"	"r.(?)"	"p.(Asp778LeufsTer42)"	""
"0000958450"	"00015883"	"90"	"999"	"-2"	"999"	"-2"	"c.999-2A>G"	"r.spl"	"p.?"	""
"0000958850"	"00015883"	"90"	"816"	"0"	"816"	"0"	"c.816T>A"	"r.(?)"	"p.(Cys272Ter)"	""
"0000958997"	"00015883"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000959285"	"00015883"	"50"	"858"	"5"	"858"	"5"	"c.858+5G>T"	"r.spl?"	"p.?"	""
"0000959315"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0000959368"	"00015883"	"70"	"2033"	"0"	"2135"	"2646"	"c.2033_2135+2646del"	"r.spl"	"p.?"	""
"0000963523"	"00015883"	"90"	"1729"	"-2"	"1729"	"-2"	"c.1729-2A>G"	"r.spl?"	"p.?"	""
"0000976644"	"00015883"	"90"	"1749"	"0"	"1749"	"0"	"c.1749C>G"	"r.(?)"	"p.(Tyr583Ter)"	""
"0000976645"	"00015883"	"50"	"722"	"0"	"722"	"0"	"c.722T>C"	"r.(?)"	"p.(Leu241Pro)"	""
"0001014096"	"00015883"	"70"	"1717"	"0"	"1717"	"0"	"c.1717T>C"	"r.(?)"	"p.(Ser573Pro)"	""
"0001017721"	"00015883"	"70"	"86"	"0"	"86"	"0"	"c.86G>A"	"r.(?)"	"p.(Arg29Gln)"	""
"0001022278"	"00015883"	"70"	"2275"	"-1"	"2275"	"-1"	"c.2275-1G>A"	"r.spl"	"p.?"	""
"0001022335"	"00015883"	"90"	"304"	"0"	"304"	"0"	"c.304C>A"	"r.(?)"	"p.(Arg102Ser)"	""
"0001035013"	"00015883"	"50"	"498"	"0"	"498"	"0"	"c.498G>A"	"r.(?)"	"p.(Val166=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 515
"{{screeningid}}"	"{{variantid}}"
"0000000140"	"0000833334"
"0000000226"	"0000790504"
"0000001596"	"0000019496"
"0000001596"	"0000019497"
"0000016365"	"0000036178"
"0000016366"	"0000036178"
"0000096329"	"0000158322"
"0000096331"	"0000158324"
"0000096362"	"0000158354"
"0000100486"	"0000162785"
"0000100489"	"0000162788"
"0000145131"	"0000784140"
"0000156382"	"0000358304"
"0000156383"	"0000358305"
"0000156384"	"0000358306"
"0000156385"	"0000358307"
"0000233718"	"0000476426"
"0000233719"	"0000476427"
"0000233720"	"0000476428"
"0000233721"	"0000476429"
"0000233722"	"0000476430"
"0000233723"	"0000476431"
"0000233724"	"0000476432"
"0000233725"	"0000476433"
"0000233726"	"0000476434"
"0000233727"	"0000476435"
"0000233728"	"0000476436"
"0000233729"	"0000476437"
"0000233730"	"0000476438"
"0000233731"	"0000476439"
"0000233732"	"0000476440"
"0000233733"	"0000476441"
"0000233734"	"0000476442"
"0000233735"	"0000476443"
"0000233736"	"0000476444"
"0000234780"	"0000477488"
"0000234781"	"0000477489"
"0000241560"	"0000487570"
"0000294958"	"0000651647"
"0000294959"	"0000651648"
"0000294961"	"0000651650"
"0000300751"	"0000663589"
"0000306149"	"0000669837"
"0000309674"	"0000684547"
"0000309675"	"0000684548"
"0000309676"	"0000684549"
"0000309763"	"0000684636"
"0000309797"	"0000684670"
"0000309797"	"0000684704"
"0000309798"	"0000684671"
"0000309798"	"0000684705"
"0000310428"	"0000685339"
"0000310429"	"0000685340"
"0000310431"	"0000685342"
"0000310432"	"0000685343"
"0000310433"	"0000685344"
"0000310434"	"0000685345"
"0000310435"	"0000685346"
"0000310436"	"0000685347"
"0000310966"	"0000686110"
"0000325718"	"0000710801"
"0000326707"	"0000710299"
"0000326724"	"0000710316"
"0000326724"	"0000710362"
"0000329123"	"0000713246"
"0000329135"	"0000713258"
"0000329135"	"0000713688"
"0000329273"	"0000713396"
"0000329471"	"0000713594"
"0000333425"	"0000731000"
"0000333425"	"0000731066"
"0000334683"	"0000732663"
"0000334683"	"0000732699"
"0000336113"	"0000735164"
"0000336457"	"0000735832"
"0000336458"	"0000735833"
"0000336465"	"0000735840"
"0000336465"	"0000735860"
"0000360213"	"0000760080"
"0000360454"	"0000760346"
"0000360454"	"0000760500"
"0000363401"	"0000764039"
"0000363401"	"0000764065"
"0000363417"	"0000764055"
"0000364741"	"0000765645"
"0000373890"	"0000784464"
"0000373896"	"0000784391"
"0000373899"	"0000784346"
"0000373902"	"0000784366"
"0000373904"	"0000784217"
"0000373904"	"0000784584"
"0000373926"	"0000784389"
"0000373936"	"0000784249"
"0000373963"	"0000784276"
"0000374586"	"0000785377"
"0000374651"	"0000785464"
"0000375167"	"0000786462"
"0000375167"	"0000786501"
"0000376102"	"0000787635"
"0000376626"	"0000788475"
"0000377977"	"0000790567"
"0000378002"	"0000790642"
"0000379022"	"0000792049"
"0000379023"	"0000792050"
"0000379023"	"0000792051"
"0000379044"	"0000792089"
"0000379044"	"0000792090"
"0000379141"	"0000792223"
"0000379142"	"0000792224"
"0000380586"	"0000793731"
"0000380587"	"0000793732"
"0000380599"	"0000793748"
"0000381053"	"0000794342"
"0000381053"	"0000794343"
"0000381054"	"0000794344"
"0000381054"	"0000794345"
"0000381055"	"0000794346"
"0000381055"	"0000794347"
"0000381352"	"0000794755"
"0000381352"	"0000794756"
"0000381393"	"0000794824"
"0000381393"	"0000794825"
"0000381523"	"0000794984"
"0000381583"	"0000795061"
"0000381588"	"0000795066"
"0000382429"	"0000796242"
"0000382440"	"0000796259"
"0000382440"	"0000796260"
"0000382833"	"0000796714"
"0000382871"	"0000796807"
"0000382901"	"0000796858"
"0000383100"	"0000797092"
"0000383100"	"0000797162"
"0000383100"	"0000797163"
"0000383532"	"0000797686"
"0000383547"	"0000797709"
"0000383547"	"0000797710"
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