### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDE6C)
# 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}}"
"PDE6C"	"phosphodiesterase 6C, cGMP-specific, cone, alpha prime"	"10"	"q24"	"unknown"	"NG_016752.1"	"UD_132084516358"	""	"https://www.LOVD.nl/PDE6C"	""	"1"	"8787"	"5146"	"600827"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/PDE6C_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-16 00:00:00"	"00006"	"2024-03-13 09:50:45"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00015885"	"PDE6C"	"phosphodiesterase 6C, cGMP-specific, cone, alpha prime"	"001"	"NM_006204.3"	""	"NP_006195.3"	""	""	""	"-138"	"2832"	"2577"	"95372345"	"95425430"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"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"
"03249"	"COD4;ACHM5"	"dystrophy, cone, type 4 (ACHM5)"	"AR"	"613093"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-03-13 09:50:21"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04230"	"ACHM"	"achromatopsia (ACHM)"	""	""	""	""	""	"00006"	"2015-03-22 20:43:12"	""	""
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"PDE6C"	"03249"
"PDE6C"	"04230"


## Individuals ## Do not remove or alter this header ##
## Count = 133
"{{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}}"
"00229591"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00290176"	""	""	""	"10"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308378"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC07299"
"00308397"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC05218"
"00308398"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC02712"
"00308662"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00309295"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309296"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00327969"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G000974"
"00328117"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005239"
"00328250"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G008996"
"00331727"	""	""	""	"1"	""	"00000"	"{PMID:Matet 2018:29618791}"	""	"M"	"yes"	""	""	"0"	""	""	"Africa-North"	"Pat16"
"00332280"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam13PatFBP_35"
"00332469"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat39"
"00333365"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat7"
"00335225"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/08"
"00359022"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12003493"
"00362144"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT5"
"00362145"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT677"
"00362146"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT1070"
"00362925"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"CHRO865"
"00363374"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM482"
"00363606"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG01589"
"00363632"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"10DG1574"
"00363697"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG1034"
"00378005"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens_2012:22264887}"	""	""	"no"	""	""	"0"	""	""	""	""
"00378006"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens_2012:22264887}"	""	""	"no"	""	""	"0"	""	""	""	""
"00378055"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SH_0035"
"00379643"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0025"
"00379683"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0074"
"00380088"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0178"
"00380854"	""	""	""	"1"	""	"00000"	"{PMID:Abdelkader 2018:30289319}"	""	"M"	"yes"	""	""	"0"	""	""	""	"1"
"00380859"	""	""	""	"1"	""	"00000"	"{PMID:Abdelkader 2018:30289319}"	""	"F"	"yes"	""	""	"0"	""	""	""	"6"
"00381142"	""	""	""	"1"	""	"00008"	"{PMID:Sundaram_2014:24148654}"	""	"M"	""	""	""	"0"	""	""	""	""
"00382332"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"161"
"00383508"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00384212"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066884"
"00384453"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14639"
"00386174"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-287"
"00386205"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-325"
"00386273"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-58, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-148"
"00386284"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-97, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-230"
"00389781"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 667, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1065"
"00389917"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1201"
"00389918"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1202"
"00389984"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1079, achromatopsia, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1268"
"00390340"	""	""	""	"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"	""	""	""	"G000974"
"00390341"	""	""	""	"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"	""	""	""	"G005239"
"00390342"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G008996"
"00390955"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00391381"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"49"
"00391827"	""	""	""	"1"	""	"00006"	"{PMID:Langlo 2014:274798146}"	""	"F"	""	"United States"	""	"0"	""	""	""	"PCI-008"
"00391923"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	"early childhood onset defined as younger than 8y"	"M"	""	"China"	""	"0"	""	""	""	"9007"
"00391924"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	""	"F"	""	"China"	""	"0"	""	""	""	"8430"
"00391925"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	""	"F"	""	"China"	""	"0"	""	""	""	"16648"
"00391926"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	""	"M"	""	"China"	""	"0"	""	""	""	"17031"
"00391927"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	""	"M"	""	"China"	""	"0"	""	""	""	"19249"
"00391928"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	"early childhood onset defined as younger than 8y"	"M"	""	"China"	""	"0"	""	""	""	"15771"
"00391929"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	""	"M"	""	"China"	""	"0"	""	""	""	"20669"
"00393985"	""	""	""	"1"	""	"00000"	"{PMID:Brunetti-Pierri_2021:33562422}"	""	""	"yes"	""	""	"0"	""	""	"Italian"	""
"00398774"	""	""	""	"1"	""	"00000"	"{PMID:Matet 2018:29618791}"	""	"M"	"yes"	"France"	""	"0"	""	""	"Northern African"	"16"
"00416059"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	""	""	""	"0"	""	""	""	"AII-1"
"00416060"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	""	""	""	"0"	""	""	""	"AII-2"
"00416061"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	"yes"	""	""	"0"	""	""	""	"BII-1"
"00416062"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	"yes"	""	""	"0"	""	""	""	"BII-2"
"00416063"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	""	""	""	"0"	""	""	""	"CII-1"
"00416064"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	""	""	""	"0"	""	""	""	"DII-1"
"00416065"	""	""	""	"1"	""	"00000"	"{PMID:Thiadens 2009:19615668}"	""	""	""	""	""	"0"	""	""	""	"DII-2"
"00416108"	""	""	""	"1"	""	"00000"	"{PMID:Chang 2009:19887631}"	""	""	""	""	""	"0"	""	""	""	"CHRO 9_II:3"
"00416109"	""	""	""	"1"	""	"00000"	"{PMID:Chang 2009:19887631}"	""	""	""	""	""	"0"	""	""	""	"CHRO 9_II:4"
"00416110"	""	""	""	"1"	""	"00000"	"{PMID:Chang 2009:19887631}"	""	""	""	""	""	"0"	""	""	""	"CHRO 102_II:1"
"00416111"	""	""	""	"1"	""	"00000"	"{PMID:Chang 2009:19887631}"	""	""	""	""	""	"0"	""	""	""	"CHRO 102_II:2"
"00416112"	""	""	""	"1"	""	"00000"	"{PMID:Chang 2009:19887631}"	""	""	""	""	""	"0"	""	""	""	"CHRO 287"
"00416113"	""	""	""	"1"	""	"00000"	"{PMID:Chang 2009:19887631}"	""	""	""	""	""	"0"	""	""	""	"CHRO 572"
"00416115"	""	""	""	"1"	""	"00000"	"{PMID:Grau 2011:21127010}, {PMID:Andersen 2023:36980963}"	""	""	""	"Denmark"	""	"0"	""	""	""	"CHRO319/II1;Pat81"
"00416116"	""	""	""	"1"	""	"00000"	"{PMID:Grau 2011:21127010}"	""	""	""	""	""	"0"	""	""	""	"CHRO 403/II:1"
"00416117"	""	""	""	"1"	""	"00000"	"{PMID:Grau 2011:21127010}"	""	""	""	""	""	"0"	""	""	""	"CHRO 403/II:2"
"00416118"	""	""	""	"1"	""	"00000"	"{PMID:Grau 2011:21127010}"	""	""	""	""	""	"0"	""	""	""	"CHRO 403/II:3"
"00416119"	""	""	""	"1"	""	"00000"	"{PMID:Grau 2011:21127010}"	""	""	""	""	""	"0"	""	""	""	"CHRO 573/II:1"
"00416120"	""	""	""	"1"	""	"00000"	"{PMID:Grau 2011:21127010}"	""	""	""	""	""	"0"	""	""	""	"CHRO 573/II:2"
"00416122"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:25605338}"	"sister of IV:2; parents first cousins"	"F"	""	""	""	"0"	""	""	""	"IV:1"
"00416123"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:25605338}"	"brother of IV:1; parents first cousins"	"M"	""	""	""	"0"	""	""	""	"IV:2"
"00416129"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"1-1"
"00416130"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"1-2"
"00416131"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"2"
"00416132"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"3"
"00416133"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"4"
"00416134"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"5"
"00416135"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"6"
"00416136"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"7"
"00416137"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"8"
"00416138"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"9"
"00416139"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"10"
"00416140"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"11"
"00416141"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"12"
"00416142"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"13"
"00416143"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"14"
"00416144"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30080950}"	""	""	""	""	""	"0"	""	""	""	"15"
"00416192"	""	""	""	"1"	""	"00000"	"{PMID:Domingo-Prim 2019:31520890}"	"establishing a pluripotent cell line from patient\'s cells"	""	""	""	""	"0"	""	""	""	"?"
"00416194"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC23489, individual P1"	"F"	""	""	""	"0"	""	""	"Nepali"	"P1"
"00416195"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC17774, individual P2"	"F"	""	""	""	"0"	""	""	"Pakistani"	"P2"
"00416196"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC18349, individual P3"	"F"	""	""	""	"0"	""	""	"Pakistani"	"P3"
"00416197"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC23440, individual P4"	"F"	""	""	""	"0"	""	""	"British"	"P4"
"00416198"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC18730, individual P5"	"F"	""	""	""	"0"	""	""	"Pakistani"	"P5"
"00416199"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC16890, individual P6"	"F"	""	""	""	"0"	""	""	"Pakistani"	"P6"
"00416200"	""	""	""	"1"	""	"00000"	"{PMID:Georgiou 2019:31826238}"	"pedigree GC19847, individual P8"	"F"	""	""	""	"0"	""	""	"British"	"P8"
"00419711"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070529"
"00419712"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070642"
"00423235"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2020:32787476}"	"proband"	"F"	"yes"	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00423236"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2020:32787476}"	"proband\'s monozygotic twin sister"	"F"	"yes"	"China"	""	"0"	""	""	"Chinese"	"II:2"
"00423237"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2020:32787476}"	"proband\'s younger brother"	"M"	"yes"	"China"	""	"0"	""	""	"Chinese"	"II:4"
"00423238"	""	""	""	"1"	""	"00000"	"{PMID:AtaBusheheri 2020:32306724}"	"proband"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"?"
"00423239"	""	""	""	"1"	""	"00000"	"{PMID:AtaBusheheri 2020:32306724}"	"proband\'s sister"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"?"
"00423240"	""	""	""	"1"	""	"00000"	"{PMID:Varela 2020:33001157}"	"proband"	"F"	"no"	""	""	"0"	""	""	"Latino"	"Patient A"
"00423241"	""	""	""	"1"	""	"00000"	"{PMID:Varela 2020:33001157}"	"proband"	"M"	"no"	""	""	"0"	""	""	"Asian"	"Patient B"
"00423242"	""	""	""	"1"	""	"00000"	"{PMID:Varela 2020:33001157}"	"proband"	"M"	"no"	""	""	"0"	""	""	"white"	"Patient C"
"00423243"	""	""	""	"1"	""	"00000"	"{PMID:Varela 2020:33001157}"	"proband"	"F"	"no"	""	""	"0"	""	""	"Ashkenazi Jewish"	"Patient D"
"00423244"	""	""	""	"1"	""	"00000"	"{PMID:Madeira 2021:34720973}"	"family 1, proband"	"M"	""	"Portugal"	""	"0"	""	""	""	"Patient 1"
"00423245"	""	""	""	"1"	""	"00000"	"{PMID:Madeira 2021:34720973}"	"family 1, proband\'s brother"	"M"	""	"Portugal"	""	"0"	""	""	""	"Patient 2"
"00423246"	""	""	""	"1"	""	"00000"	"{PMID:Madeira 2021:34720973}"	"proband"	"M"	""	"Portugal"	""	"0"	""	""	""	"Patient 3"
"00423247"	""	""	""	"1"	""	"00000"	"{PMID:Madeira 2021:34720973}"	"proband"	"M"	""	"Portugal"	""	"0"	""	""	""	"Patient 4"
"00436593"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"likely"	"Mexico"	""	""	""	""	"Hispanic"	"3579484"
"00444304"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat71"
"00444305"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat72"
"00447483"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ACHM-1192"
"00447484"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ACHM-1207"
"00450908"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"070596"
"00451120"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"071005"
"00455003"	""	""	""	"1"	""	"04752"	"{PMID:Andersen 2023:36980963}"	"patient"	""	"yes"	"Denmark"	""	"0"	""	""	""	"Pat67"
"00455004"	""	""	""	"2"	""	"04752"	"{PMID:Andersen 2023:36980963}"	"family, 2 affected"	""	"yes"	"Denmark"	""	"0"	""	""	""	"Fam218Pat84"
"00455005"	""	""	"00455004"	"1"	""	"04752"	"{PMID:Andersen 2023:36980963}"	"sib"	""	"yes"	"Denmark"	""	"0"	""	""	""	"Fam218Pat85"
"00455006"	""	""	""	"1"	""	"04752"	"{PMID:Andersen 2023:36980963}"	"patient"	""	"yes"	"Denmark"	""	"0"	""	""	""	"Pat91"
"00461122"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"M"	""	"South Africa"	""	"0"	""	""	"Africa-indigenous"	"Pat57"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 133
"{{individualid}}"	"{{diseaseid}}"
"00229591"	"00198"
"00290176"	"00198"
"00308378"	"04214"
"00308397"	"04214"
"00308398"	"04214"
"00308662"	"04214"
"00309295"	"04214"
"00309296"	"04214"
"00327969"	"04214"
"00328117"	"04214"
"00328250"	"04214"
"00331727"	"04214"
"00332280"	"04214"
"00332469"	"04214"
"00333365"	"04214"
"00335225"	"04214"
"00359022"	"04214"
"00362144"	"04214"
"00362145"	"04214"
"00362146"	"04214"
"00362925"	"04214"
"00363374"	"04214"
"00363606"	"04214"
"00363632"	"04214"
"00363697"	"04214"
"00378005"	"04214"
"00378006"	"04214"
"00378055"	"04230"
"00379643"	"04230"
"00379683"	"04230"
"00380088"	"00058"
"00380854"	"04214"
"00380859"	"04214"
"00381142"	"04214"
"00382332"	"04214"
"00383508"	"04214"
"00384212"	"04214"
"00384453"	"04214"
"00386174"	"04214"
"00386205"	"04214"
"00386273"	"04214"
"00386284"	"04214"
"00389781"	"04214"
"00389917"	"04214"
"00389918"	"04214"
"00389984"	"04214"
"00390340"	"04214"
"00390341"	"04214"
"00390342"	"04214"
"00390955"	"04214"
"00391381"	"04214"
"00391827"	"04214"
"00391923"	"04214"
"00391924"	"04214"
"00391925"	"04214"
"00391926"	"04214"
"00391927"	"04214"
"00391928"	"04214"
"00391929"	"04214"
"00393985"	"04214"
"00398774"	"04214"
"00416059"	"04214"
"00416060"	"04214"
"00416061"	"04214"
"00416062"	"04214"
"00416063"	"04214"
"00416064"	"04214"
"00416065"	"04214"
"00416108"	"04214"
"00416109"	"04214"
"00416110"	"04214"
"00416111"	"04214"
"00416112"	"04214"
"00416113"	"04214"
"00416115"	"04214"
"00416116"	"04214"
"00416117"	"04214"
"00416118"	"04214"
"00416119"	"04214"
"00416120"	"04214"
"00416122"	"04214"
"00416123"	"04214"
"00416129"	"04214"
"00416130"	"04214"
"00416131"	"04214"
"00416132"	"04214"
"00416133"	"04214"
"00416134"	"04214"
"00416135"	"04214"
"00416136"	"04214"
"00416137"	"04214"
"00416138"	"04214"
"00416139"	"04214"
"00416140"	"04214"
"00416141"	"04214"
"00416142"	"04214"
"00416143"	"04214"
"00416144"	"04214"
"00416192"	"04214"
"00416194"	"04214"
"00416195"	"04214"
"00416196"	"04214"
"00416197"	"04214"
"00416198"	"04214"
"00416199"	"04214"
"00416200"	"04214"
"00419711"	"04214"
"00419712"	"04214"
"00423235"	"04214"
"00423236"	"04214"
"00423237"	"04214"
"00423238"	"04214"
"00423239"	"04214"
"00423240"	"04214"
"00423241"	"04214"
"00423242"	"04214"
"00423243"	"04214"
"00423244"	"04214"
"00423245"	"04214"
"00423246"	"04214"
"00423247"	"04214"
"00436593"	"02156"
"00444304"	"04214"
"00444305"	"04214"
"00447483"	"00198"
"00447484"	"00198"
"00450908"	"04249"
"00451120"	"04249"
"00455003"	"04230"
"00455004"	"04230"
"00455005"	"04230"
"00455006"	"04230"
"00461122"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 02156, 03249, 04214, 04230, 04249
## Count = 131
"{{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}}"
"0000172857"	"00198"	"00229591"	"01807"	"Unknown"	""	"HP:0011516 (Achromatopsia)"	""	""	""	""	""	""	""	""	""	""	""
"0000233805"	"04214"	"00308378"	"00004"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233824"	"04214"	"00308397"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233825"	"04214"	"00308398"	"00004"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000234090"	"04214"	"00308662"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234615"	"04214"	"00309295"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000234616"	"04214"	"00309296"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000246196"	"04214"	"00327969"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000246344"	"04214"	"00328117"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000246477"	"04214"	"00328250"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000249919"	"04214"	"00331727"	"00000"	"Familial, autosomal recessive"	"31y"	"see paper; ..., detailed analysis"	""	""	""	""	""	""	""	""	""	"congenital achromatopsia"	""
"0000250467"	"04214"	"00332280"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250653"	"04214"	"00332469"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"ACHM"	""
"0000251552"	"04214"	"00333365"	"00000"	"Unknown"	"59y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252940"	"04214"	"00335225"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia vs cone dystrophy"	""
"0000254319"	"04214"	"00359022"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000257558"	"04214"	"00362144"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257559"	"04214"	"00362145"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257560"	"04214"	"00362146"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000258291"	"04214"	"00362925"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000258739"	"04214"	"00363374"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258956"	"04214"	"00363606"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000258982"	"04214"	"00363632"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"cone rod dystrophy"	""
"0000259047"	"04214"	"00363697"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"cone rod dystrophy"	""
"0000273151"	"04214"	"00378005"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone distrophy"	""
"0000273152"	"04214"	"00378006"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone distrophy"	""
"0000273197"	"04230"	"00378055"	"03508"	"Familial, autosomal recessive"	""	"HP:0001141, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516"	""	""	""	""	""	""	""	""	""	"achromatopsia (ACHM)"	""
"0000273487"	"04230"	"00379643"	"03508"	"Familial, autosomal recessive"	""	"HP:0030515,\tHP:0000613,\tHP:0001129,\tHP:0000007,\tHP:0000639,\tHP:0011516"	""	""	""	""	""	""	""	""	""	"achromatopsia (ACHM)"	""
"0000273527"	"04230"	"00379683"	"03508"	"Familial, autosomal recessive"	""	"HP:0030515,\tHP:0000613,\tHP:0001129,\tHP:0000639,\tHP:0000551,\tHP:0000007,\tHP:0011516"	""	""	""	""	""	""	""	""	""	"achromatopsia (ACHM)"	""
"0000273943"	"00058"	"00380088"	"03508"	"Familial, autosomal recessive"	""	"HP:0030515,\tHP:0000613,\tHP:0001123,\tHP:0000639,\tHP:0000551,\tHP:0000548"	""	""	""	""	""	""	""	""	""	"dystrophy, cone-rod (CORD)"	""
"0000274707"	"04214"	"00380854"	"00000"	"Familial, autosomal recessive"	"6y"	"VA OD 20/200, VA OS 20/200"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000274712"	"04214"	"00380859"	"00000"	"Familial, autosomal recessive"	"5y"	"VA OD 20/200, VA OS 20/200"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000274993"	"04214"	"00381142"	"00000"	"Unknown"	"43y"	""	""	""	""	""	""	""	""	""	""	"Achromatopsia (ACHM)"	""
"0000276181"	"04214"	"00382332"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277293"	"04214"	"00383508"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	""
"0000277997"	"04214"	"00384212"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy"	""
"0000278238"	"04214"	"00384453"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy?"	""
"0000279977"	"04214"	"00386174"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000280008"	"04214"	"00386205"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000280076"	"04214"	"00386273"	"00000"	"Familial, autosomal recessive"	"64y"	""	""	"25y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280087"	"04214"	"00386284"	"00000"	"Familial, X-linked dominant"	"52y"	""	""	"15y"	""	""	""	""	""	""	"early onset retinitis pigmentosa"	"autosomal dominant retinitis pigmentosa"	""
"0000283322"	"04214"	"00389781"	"00000"	"Familial, autosomal recessive"	"33y"	"age at genetic diagnosis mentioned"	""	"30y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283458"	"04214"	"00389917"	"00000"	"Familial, autosomal recessive"	"28y"	"age at genetic diagnosis mentioned"	""	"26y"	""	""	""	""	""	""	"achromatopsia"	""	""
"0000283459"	"04214"	"00389918"	"00000"	"Familial, autosomal recessive"	"26y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"achromatopsia"	""	""
"0000283525"	"04214"	"00389984"	"00000"	"Familial, autosomal recessive"	"4y"	"age at genetic diagnosis mentioned"	""	"2y"	""	""	""	""	""	""	"achromatopsia"	""	""
"0000283878"	"04214"	"00390340"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000283879"	"04214"	"00390341"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000283880"	"04214"	"00390342"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284443"	"04214"	"00390955"	"00000"	"Unknown"	"26y-30y"	""	""	""	""	""	""	""	""	""	""	"Stargardt’s disease (STGD)"	""
"0000284821"	"04214"	"00391381"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy 4 (613093)"	"Cone dystrophy 4 (613093)"	""
"0000285140"	"04214"	"00391827"	"00006"	"Familial, autosomal recessive"	"40y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000285213"	"04214"	"00391923"	"00000"	"Unknown"	""	"Best corrected visual acuity right/left eye: 0.1/0.1"	"<8y"	"25y"	"poor vision"	""	""	""	""	""	""	"macular dystrophy"	""
"0000285214"	"04214"	"00391924"	"00000"	"Unknown"	""	"fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished"	"<1y"	"2y"	"nystagmus, poor vision"	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000285215"	"04214"	"00391925"	"00000"	"Unknown"	""	"optical coherence tomography: macular atrophy"	""	"32y"	"na"	""	""	""	""	""	""	"macular dystrophy"	""
"0000285216"	"04214"	"00391926"	"00000"	"Unknown"	""	"Best corrected visual acuity right/left eye: 0.15/0.15, fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished, optical coherence tomography: lost ellipsoid zone"	""	"2y"	"poor vision"	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000285217"	"04214"	"00391927"	"00000"	"Unknown"	""	"Best corrected visual acuity right/left eye: 0.15/0.15, fundus: normal"	"2y"	"5y"	"nystagmus"	""	""	""	""	""	""	"achromatopsia"	""
"0000285218"	"04214"	"00391928"	"00000"	"Unknown"	""	"Best corrected visual acuity right/left eye: 0.1/0.1, fundus: examination not available, electroretinogram responses: rod: mildly reduced, cone: extinguished,"	"<8y"	"29y"	"nystagmus, photophobia, poor vision"	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000285219"	"04214"	"00391929"	"00000"	"Unknown"	""	"Best corrected visual acuity right/left eye: 0.2/0.2, fundus: attenuated retinal arterioles, electroretinogram responses: rod: normal, cone: extinguished,"	"<1y"	"5y"	"photophobia, poor vision"	""	""	""	""	""	""	"achromatopsia"	""
"0000287191"	"04214"	"00393985"	"00000"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	""	"Achromatopsia"	""
"0000291858"	"04214"	"00398774"	"00000"	"Familial, autosomal recessive"	"31y"	""	""	""	""	""	""	""	""	""	"Achromatopsia"	""	""
"0000307825"	"04214"	"00416059"	"00000"	"Familial, autosomal recessive"	"51y"	"age at first exam (y): 6, age at last exam: 51; best corrected visual acuity best eye 1st exam: 0.4, last exam: 0.16; visual complaints: photophobia: yes ,nystagmus: yes; refractive error spherical equivalent: -11; color vision defects 1st anot determined last exam: severe; macular appearance 1st exam: no foveal reflex, last exam: mild pigmentary changes; periphery last exam: normal; cone electroretinogram 1st exam: reduced, last exam: no responses"	""	""	""	""	""	""	""	""	"early-onset cone dystrophy"	""	""
"0000307826"	"04214"	"00416060"	"00000"	"Familial, autosomal recessive"	"47y"	"age at first exam (y): 7, age at last exam: 47; best corrected visual acuity best eye 1st exam: 0.3, last exam: 0.2; visual complaints: photophobia: yes ,nystagmus: yes; refractive error spherical equivalent: -3.5; color vision defects 1st exam: severe; macular appearance 1st exam: pigmentary changes, last exam: pigmentary changes; periphery last exam: normal; cone electroretinogram: reduced, last exam: no responses"	""	""	""	""	""	""	""	""	"early-onset cone dystrophy"	""	""
"0000307827"	"04214"	"00416061"	"00000"	"Familial, autosomal recessive"	"23y"	"age at first exam (y): 7, age at last exam: 23; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: no ,nystagmus: yes; refractive error spherical equivalent: -10; color vision defects 1st exam: severe; macular appearance 1st exam: mild pigmentary changes, last exam: mild pigmentary changes; periphery last exam: normal; cone electroretinogram: not determined, last exam: not determined"	""	""	""	""	""	""	""	""	"incomplete achromatopsia"	""	""
"0000307828"	"04214"	"00416062"	"00000"	"Familial, autosomal recessive"	"20y"	"age at first exam (y): 10, age at last exam: 20; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: no ,nystagmus: yes; refractive error spherical equivalent: -2; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no foveal reflex; periphery last exam: normal; cone electroretinogram: reduced, last exam: reduced"	""	""	""	""	""	""	""	""	"incomplete achromatopsia"	""	""
"0000307829"	"04214"	"00416063"	"00000"	"Familial, autosomal recessive"	"4y"	"age at first exam (y): 2, age at last exam: 4; best corrected visual acuity best eye 1st exam: 0.1, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: 10.5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses"	""	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307830"	"04214"	"00416064"	"00000"	"Familial, autosomal recessive"	"37y"	"age at first exam (y): 12, age at last exam: 37; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: -5; color vision defects 1st exam: severe; macular appearance 1st exam:  no foveal reflex, last exam: mild; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses"	""	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307831"	"04214"	"00416065"	"00000"	"Familial, autosomal recessive"	"36y"	"age at first exam (y): 11, age at last exam: 36; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: -1.5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses"	""	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307874"	"04214"	"00416108"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right/left eye: 0.08/0.08; congenital nystagmus was reported that still persists; myopic with a refraction error (SE) of -7.38/ -7.38; complete lack of color discrimination on various test platforms; central scotoma consistent with a loss of multifocal electroretinogram responses for central test fields; electroretinograms: extinguished responses under photopic and 30-Hz flicker stimulation, scotopic electroretinogram responses essentially normal.; funduscopy: atrophy of the retinal pigment epithelium in the macula - atypical feature in patients with achromatopsia, rather a clinical feature in patients with progressive cone dystrophy"	""	""	"photophobia and reduced visual acuity since earliest infancy"	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307875"	"04214"	"00416109"	"00000"	"Familial, autosomal recessive"	"24y"	"best corrected visual acuity right/left eye: 0.08/0.1; congenital nystagmus was reported that still persists; myopic with a refraction error (SE) of -8.00/ -7.38; complete lack of color discrimination on various test platforms; central scotoma consistent with a loss of multifocal electroretinogram responses for central test fields; electroretinograms: extinguished responses under photopic and 30-Hz flicker stimulation, scotopic electroretinogram responses essentially normal.; funduscopy: atrophy of the retinal pigment epithelium in the macula - atypical feature in patients with achromatopsia, rather a clinical feature in patients with progressive cone dystrophy"	""	""	"photophobia and reduced visual acuity since earliest infancy"	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307876"	"04214"	"00416110"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000307877"	"04214"	"00416111"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000307878"	"04214"	"00416112"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000307879"	"04214"	"00416113"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000307881"	"04214"	"00416115"	"00000"	"Familial, autosomal recessive"	""	"fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: scotopic; refractive error: -6.50, -6.50; progression: no"	"0m"	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307882"	"04214"	"00416116"	"00000"	"Familial, autosomal recessive"	""	"fundus/macular appearance: no aberration; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: no interpretation possible; refractive error: no data; progression: no data"	"<8y"	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307883"	"04214"	"00416117"	"00000"	"Familial, autosomal recessive"	""	"fundus/macular appearance: no aberration; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: no interpretation possible; refractive error: no data; progression: no data"	"<8y"	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307884"	"04214"	"00416118"	"00000"	"Familial, autosomal recessive"	""	"fundus/macular appearance: no aberration; cone electroretinogram: no data; rod electroretinogram: no data; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.4; color vision defects: no data; involved color axis: no data; refractive error: no data; progression: no data"	"<8y"	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307885"	"04214"	"00416119"	"00000"	"Familial, autosomal recessive"	""	"fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: congenital; best corrected visual acuity right, left eye: 0.1; color vision defects: severe; involved color axis: scotopic; refractive error: -0.75, -0.75; progression: no"	"3m"	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307886"	"04214"	"00416120"	"00000"	"Familial, autosomal recessive"	""	"fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: no data; rod electroretinogram: normal; photophobia: yes; nystagmus: congenital; best corrected visual acuity right, left eye: 0.1; color vision defects: no data; involved color axis: no data; refractive error: -1.5, -1.00; progression: no"	"0m"	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307888"	"04214"	"00416122"	"00000"	"Familial, autosomal recessive"	"30y"	"clinical features from 7y to 21y described in Hayashi et al, 2004; best corrected visual acuity right, left eye: 0.2, 0.1 (with moderate myopia) ; funduscopy: atrophic chorioretinal macular scarring in the right eye and macular atrophy in the left eye; fundus autofluorescence: complete loss of autofluorescence in the macular lesions of both eyes; optical coherence tomography: macular thinning of all layers in both eyes and retinal and choroidal excavation in the right eye; 31y, visual field: bilateral central scotomas (5-10 degrees, broadened slightly relative to that at 11 years of age) of the I-3e or I-2e isopters; peripheral visual fields of the I-5e and I-4e isopters normal;"	""	""	""	""	""	""	""	""	"complete achromatopsia"	""	""
"0000307889"	"04214"	"00416123"	"00000"	"Familial, autosomal recessive"	"26y"	"clinical features from 5y to 18y described in Hayashi et al, 2004; best corrected visual acuity: 0.2 (with high hyperopia) in each eye; funduscopy: atrophic macular changes in both eyes; fundus autofluorescence: hyper-autofluorescent areas of the maculas in both eyes; optical coherence tomography: retinal thinning with loss of the outer retinal layer in each macula; visual field: bilateral central scotomas (5 degrees, little change in the visual field between 26 and 12 years of age) of the I-3e or I-2e isopters, but the peripheral visual fields of the I-5e and I-4e isopters normal"	""	"5y"	""	""	""	""	""	""	"incomplete achromatopsia"	""	""
"0000307895"	"04214"	"00416129"	"00000"	"Familial, autosomal recessive"	"27y"	"best corrected visual acuity right/left eye: 0.2/0.3; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: not available; photophobia: yes"	"4m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307896"	"04214"	"00416130"	"00000"	"Familial, autosomal recessive"	"20y"	"best corrected visual acuity right/left eye: 0.2 both eyes; electroretinogram signals, scotopic: not available, photopic: not available; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes"	"6m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307897"	"04214"	"00416131"	"00000"	"Familial, autosomal recessive"	"29y"	"best corrected visual acuity right/left eye: 0.6 both eyes; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: no, at present: no; photophobia: yes"	"5y"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307898"	"04214"	"00416132"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right/left eye: not available ; electroretinogram signals, scotopic: normal, photopic: absent; color vision: not available ; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307899"	"04214"	"00416133"	"00000"	"Familial, autosomal recessive"	"58y"	"best corrected visual acuity right/left eye: 0.1 both eyes; electroretinogram signals, scotopic: not available, photopic: not available; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes"	"<8y"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307900"	"04214"	"00416134"	"00000"	"Familial, autosomal recessive"	"4y"	"best corrected visual acuity right/left eye: 0.01/0.04; electroretinogram signals, scotopic: not available, photopic: not available; color vision: not available; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes"	"0m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307901"	"04214"	"00416135"	"00000"	"Familial, autosomal recessive"	"33y"	"best corrected visual acuity right/left eye: finger counting both eyes; electroretinogram signals, scotopic: reduced, photopic: absent; color vision: not available ; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: not available , at present: no; photophobia: yes"	"2y"	""	""	""	""	""	""	""	"Cone-rod dystrophy"	""	""
"0000307902"	"04214"	"00416136"	"00000"	"Familial, autosomal recessive"	"23y"	"best corrected visual acuity right/left eye: 0.16 both eyes; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes"	"0m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307903"	"04214"	"00416137"	"00000"	"Familial, autosomal recessive"	"35y"	"best corrected visual acuity right/left eye: 0.1 both eyes; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: not available, at present: not available; photophobia: yes"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307904"	"04214"	"00416138"	"00000"	"Familial, autosomal recessive"	"16y"	"best corrected visual acuity right/left eye: not available; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes"	"7m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307905"	"04214"	"00416139"	"00000"	"Familial, autosomal recessive"	"19y"	"best corrected visual acuity right/left eye: 0.1/0.16; electroretinogram signals, scotopic: borderline normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307906"	"04214"	"00416140"	"00000"	"Familial, autosomal recessive"	"16y"	"best corrected visual acuity right/left eye: 0.1/0.1; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: not available; optical coherence tomography: not available; nystagmus, past: yes, at present: yes; photophobia: yes"	"8m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307907"	"04214"	"00416141"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity right/left eye: 0.05 both eyes; electroretinogram signals, scotopic: borderline normal, photopic: absent; color vision: absent; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes"	"0m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307908"	"04214"	"00416142"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307909"	"04214"	"00416143"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307910"	"04214"	"00416144"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307958"	"04214"	"00416192"	"00000"	"Familial, autosomal recessive"	""	""	"42y"	""	""	""	""	""	""	""	"incomplete achromatopsia"	""	""
"0000307959"	"04214"	"00416194"	"00000"	"Familial, autosomal recessive"	"26y"	"phenotyping data, right/left eye: axial length (mm): not available/not available ; visual acuity (LogMAR): 1; refraction (spherical equivalent):-3.75/-3.75; optical coherence tomography, baseline age: 26y, follow-up time: not available, ellipsoid zone grade (described in Sundaram et al.., 2014): 3/not available, ellipsoid zone width, baseline (um): 1058/not available, rate of EZ loss (um/year): not available/not available; fundus autofluorescence: not available; evidence of progression: not available"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307960"	"04214"	"00416195"	"00000"	"Familial, autosomal recessive"	"30y1m"	"phenotyping data, right/left eye: axial length (mm): 22.86/22.95; visual acuity (LogMAR): 1; refraction (spherical equivalent):+2.25/+2.25; optical coherence tomography, baseline age: 22y, follow-up time: 8.1y, ellipsoid zone grade (described in Sundaram et al.., 2014): 4/5, ellipsoid zone width, baseline (um): 671/612, rate of EZ loss (um/year): 4/9; fundus autofluorescence, baseline age: 25y, follow-up time: 4.2y; rate of Increase in decreased autofluorescence (mm2/y): 0.03/0.02; rate of ring increase (mm2/y): 0.01/0.01; evidence of progression: no"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307961"	"04214"	"00416196"	"00000"	"Familial, autosomal recessive"	"36y4m"	"phenotyping data, right/left eye: axial length (mm): 22.50/22.56; visual acuity (LogMAR): 0.78; refraction (spherical equivalent):-0.50/-0.50; optical coherence tomography, baseline age: 29y, follow-up time: 7.3y, ellipsoid zone grade (described in Sundaram et al.., 2014): 5/5, ellipsoid zone width, baseline (um): 2053/1866, rate of EZ loss (um/year): 102/107; fundus autofluorescence, baseline age: 27y, follow-up time: 5.9y; rate of Increase in decreased autofluorescence (mm2/y): 0.19/0.15; rate of ring increase (mm2/y): 0.10/0.10; evidence of progression: yes"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307962"	"04214"	"00416197"	"00000"	"Familial, autosomal recessive"	"46y8m"	"phenotyping data, right/left eye: axial length (mm): 26.77/26.92; visual acuity (LogMAR): 0.60/0.72; refraction (spherical equivalent):-10.25/-11.00; optical coherence tomography, baseline age: 45y, follow-up time: 1.7y, ellipsoid zone grade (described in Sundaram et al.., 2014): 4/4, ellipsoid zone width, baseline (um): 641/594, rate of EZ loss (um/year): 2/1; fundus autofluorescence, baseline age: 44y, follow-up time: 1.7y; rate of Increase in decreased autofluorescence (mm2/y): 0/0; rate of ring increase (mm2/y): 0§/0§; evidence of progression:"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307963"	"04214"	"00416198"	"00000"	"Familial, autosomal recessive"	"38y8m"	"phenotyping data, right/left eye: axial length (mm): not available/not available; ; visual acuity (LogMAR): 1; refraction (spherical equivalent):-10.50/-11.00; optical coherence tomography, baseline age: 36y, follow-up time: 2.7y, ellipsoid zone grade (described in Sundaram et al.., 2014): 5/5, ellipsoid zone width, baseline (um): 4087/4065, rate of EZ loss (um/year): 175/178; fundus autofluorescence, baseline age: 32y, follow-up time: 5.9y; rate of Increase in decreased autofluorescence (mm2/y): 0.30/0.20; rate of ring increase (mm2/y): 0.13/0.09; evidence of progression: yes"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307964"	"04214"	"00416199"	"00000"	"Familial, autosomal recessive"	"40y1m"	"phenotyping data, right/left eye: axial length (mm): 26.95/27.06; visual acuity (LogMAR): 1.0/0.89; refraction (spherical equivalent):-14.00/-14.50; optical coherence tomography, baseline age: 36y, follow-up time: 4.1y, ellipsoid zone grade (described in Sundaram et al.., 2014): 4/4, ellipsoid zone width, baseline (um): 503/452, rate of EZ loss (um/year): 2/3; fundus autofluorescence, baseline age: 35y, follow-up time: 3.1y; rate of Increase in decreased autofluorescence (mm2/y): 0/0; rate of ring increase (mm2/y): 0§/0§; evidence of progression:"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000307965"	"04214"	"00416200"	"00000"	"Familial, autosomal recessive"	"53y4m"	"phenotyping data, right/left eye: axial length (mm): 27.78/27.47; visual acuity (LogMAR): 1; refraction (spherical equivalent):-9.00/-9.75; optical coherence tomography, baseline age: 46y, follow-up time: 7.3y, ellipsoid zone grade (described in Sundaram et al.., 2014): 5/5, ellipsoid zone width, baseline (um): 3861/4149, rate of EZ loss (um/year): 11/47; fundus autofluorescence, baseline age: 45y, follow-up time: 7.3y; rate of Increase in decreased autofluorescence (mm2/y): 0.03/0.03; rate of ring increase (mm2/y): 0.27/0.17; evidence of progression: yes"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000310991"	"04214"	"00419711"	"04405"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000310992"	"04214"	"00419712"	"04405"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000314440"	"04214"	"00423235"	"00000"	"Familial, autosomal recessive"	"12y"	"uncorrected visual acuity(logMAR): 1.14+/-0.07, 1.18+/-0.07; best-corrected visual acuity (refraction)1(-6.50DS/-2.50DCx5deg), 1(-7.00DS/-3.00DCx175deg); color vision defects: severe; other signs: photophobia, nystagmus; electroretinography (ERG) right/left eye: scotopic 0.01 ERG, b-wave (mv): mild decline/ mild decline, photopic 3.0 ERG, a-wave (mv): severe decline/ severe decline, b-wave (mv): severe decline/ severe decline"	"4y"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314441"	"04214"	"00423236"	"00000"	"Familial, autosomal recessive"	"12y"	"uncorrected visual acuity(logMAR): 1.60+/-0.17, 1.28+/-0.10; best-corrected visual acuity (refraction)1(-7.50DS/-2.50DCx175deg), 1(-6.75DS/-3.00DCx170deg); color vision defects: severe; other signs: photophobia, nystagmus; electroretinography (ERG) right/left eye: scotopic 0.01 ERG, b-wave (mv): mild decline/ mild decline, photopic 3.0 ERG, a-wave (mv): moderate decline/ moderate decline, b-wave (mv): moderate decline/ moderate decline"	"4y"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314442"	"04214"	"00423237"	"00000"	"Familial, autosomal recessive"	"8y"	"uncorrected visual acuity(logMAR): 1.18+/-0.07, 1.18+/-0.07; best-corrected visual acuity (refraction)0.92(-11.00DS/-2.50DCx25deg)1(-15.00DS/-2.00DCx160deg); color vision defects: severe; other signs: photophobia, nystagmus; electroretinography (ERG) right/left eye: scotopic 0.01 ERG, b-wave (mv): mild decline/ mild decline, photopic 3.0 ERG, a-wave (mv): moderate decline/ moderate decline, b-wave (mv): moderate decline/ moderate decline"	"5y"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314443"	"04214"	"00423238"	"00000"	"Familial, autosomal recessive"	"28y"	"disease progression: stationary; best corrected visual acuity: right eye: counting fingers 2’; left eye: counting fingers 1’; visual field: small central scotoma (5deg); fundoscopy: atrophic macular lesion; peripapillary atrophy/drusen; signs of pathologic myopia; optical coherence tomography: spectral domain optical coherence tomography: stage 5 (complete retinal pigmented epithelium disruption and outer nuclear layer loss); retinal nerve fiber layer optical coherence tomography: thickness falls out of the normal limit in all quadrants except nasal; color vision: Ishihara: strong deutan; panel D15: total achromat; refractive errors: right eye: -8.5; left eye: -8; fundus autofluorescence imaging: missing normal foveal darkness; vascular tortuosity; peripapillary scar ti"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314444"	"04214"	"00423239"	"00000"	"Familial, autosomal recessive"	"30y"	"disease progression: stationary; best corrected visual acuity: right eye: counting fingers 1’; left eye: counting fingers 1’; visual field: central scotoma (5deg-10deg); fundoscopy: atrophic macular lesion; optical coherence tomography: spectral domain optical coherence tomography: stage 5 (complete retinal pigmented epithelium disruption and outer nuclear layer loss); retinal nerve fiber layer optical coherence tomography: thickness falls out of the normal limit in all quadrants; color vision: Ishihara: extreme deutan; panel D15: total achromat; refractive errors: right eye: -7.5; left eye: -7.5; fundus autofluorescence imaging: central macular window defect; vascular tortuosity; optic nerve head autofluoresc"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314445"	"04214"	"00423240"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity right, left eye: 20/200, 20/250; macular clinical findings: normal; macular optical coherence tomography characteristics: normal; electroretinography, scotopic- 0 dB stimulus: a-wave: 93 uV amplitude, (reduced) 18.25 ms implicit time; b-wave: 251.5 uV amplitude, (reduced) 51.5 ms implicit time, photopic- cone flicker: 13 uV amplitude, (reduced) 31.5ms implicit time; visual field, continuous horizontal degrees (V4e isopter): 80 deg right eye and 110 deg left eye"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314446"	"04214"	"00423241"	"00000"	"Familial, autosomal recessive"	"8y"	"best corrected visual acuity right, left eye: 20/125, 20/160; macular clinical findings: mildly blunted foveal reflex; macular optical coherence tomography characteristics: discontinuity of outer retinal layers; electroretinography, scotopic- 0 dB stimulus: not available, photopic- cone flicker: not available; visual field, continuous horizontal degrees (V4e isopter): not available"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314447"	"04214"	"00423242"	"00000"	"Familial, autosomal recessive"	"58y"	"best corrected visual acuity right, left eye: 20/200, 20/250; macular clinical findings: atrophy; macular optical coherence tomography characteristics: severe retinal atrophy; electroretinography, scotopic- 0 dB stimulus: a-wave: 88.5 uV amplitude, (reduced) 22.25 ms implicit time; b-wave: 153.5 uV amplitude, (reduced) 67.0 ms implicit time (delayed), photopic- cone flicker: essentially extinguished; visual field, continuous horizontal degrees (V4e isopter): 110 deg right eye and left eye"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314448"	"04214"	"00423243"	"00000"	"Familial, autosomal recessive"	"52y"	"best corrected visual acuity right, left eye: 20/200, 20/125; macular clinical findings: blunted foveal reflex; macular optical coherence tomography characteristics: hypolucent area in ellipsoid zone; electroretinography, scotopic- 0 dB stimulus: a-wave: 65.5 uV amplitude, (reduced) 19.25 ms implicit time; b-wave: 143.0 uV amplitude, (reduced) 54.25 ms implicit time, photopic- cone flicker: essentially extinguished; visual field, continuous horizontal degrees (V4e isopter): 110 deg right eye and left eye"	""	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314449"	"04214"	"00423244"	"00000"	"Familial, autosomal recessive"	"29y"	"visual complaints: photophobia: yes; nystagmus: yes; nyctalopia: no; peripheral visual loss: no; strabismus: esotropia; initial refractive error: right eye: +1.50, left eye: +1.75; first best corrected visual acuity right, left eye (years): 4, 20/100; final best corrected visual acuity right, left eye (years): 29, 20/200; final refractive error right/left eye: -0.75-0.5 x 20deg / -1.25 x 110deg; color discrimination: impairment in the three colour axes; ocular fundus: normal; final full field electroretinography: normal dark-adapted; light-adapted 3 ERG and light-adapted 30-Hz flicker ERG severely reduced and delayed; spectral domain optical coherence tomography: both eyes: disruption of ellipsoid and photoreceptor outer segment right eye; fundus autofluorescence: mild perifoveal hyperautofluorescent ring in both eyes"	"3m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314450"	"04214"	"00423245"	"00000"	"Familial, autosomal recessive"	"28y"	"visual complaints: photophobia: yes; nystagmus: yes; nyctalopia: no; peripheral visual loss: no; strabismus: No; initial refractive error: right eye: -2.00 -2.00 x 15deg, left eye: -2.75 -2.00 x 160deg; first best corrected visual acuity right, left eye (years): 6, 20/200; final best corrected visual acuity right, left eye (years): 28, 20/200; final refractive error right/left eye: -0.75-0.5 x 20deg / -1.25 x 110deg; color discrimination: impairment in the three colour axes; ocular fundus: normal; final full field electroretinography: normal dark-adapted; light-adapted 3 ERG and light-adapted 30-Hz flicker ERG severely reduced and delayed; spectral domain optical coherence tomography: ellipsoid irregularity left eye, disruption of ellipsoid and photoreceptor outer segment; fundus autofluorescence: mild perifoveal hyperautofluorescent ring in both eyes"	"?"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314451"	"04214"	"00423246"	"00000"	"Familial, autosomal recessive"	"30y"	"visual complaints: photophobia: yes; nystagmus: yes; nyctalopia: no; peripheral visual loss: no; strabismus: exotropia; initial refractive error: ?; first best corrected visual acuity right, left eye (years): ?, ?; final best corrected visual acuity right, left eye (years): 30, 20/200; final refractive error right/left eye: -5.00-1.75 x 70deg / -7.00-2.00 x 140deg; color discrimination: impairment in the three colour axes; ocular fundus: right eye: macular atrophy, left eye: bull’s eye maculopathy; final full field electroretinography: normal dark-adapted; light-adapted 3 ERG and light-adapted 30-Hz flicker ERG severely reduced and delayed; spectral domain optical coherence tomography: right eye atrophy of external layers of retina left eye, disruption of ellipsoid and photoreceptor outer segment; fundus autofluorescence: right eye: complete loss of normal macular autofluorescence, left eye: increase of hypoautofluorescen"	"7m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000314452"	"04214"	"00423247"	"00000"	"Familial, autosomal recessive"	"11y"	"visual complaints: photophobia: yes; nystagmus: yes; nyctalopia: no; peripheral visual loss: no; strabismus: exotropia; initial refractive error: right eye: + 1.25 x 95, left eye: + 1.25 x 85deg; first best corrected visual acuity right, left eye (years): 4, 20/50; final best corrected visual acuity right, left eye (years): 11, 20/200; final refractive error right/left eye: +1.00 + 1.00 x 90 / +1.75 + 1.25 x 70deg; color discrimination: impairment in the three colour axes; ocular fundus: normal; final full field electroretinography: normal dark-adapted; light-adapted unrecordable; spectral domain optical coherence tomography: ?; fundus autofluorescence: ?"	"3m"	""	""	""	""	""	""	""	"achromatopsia"	""	""
"0000326742"	"02156"	"00436593"	"04552"	"Familial, autosomal recessive"	"04y"	"Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551"	"04y"	"17y"	"4y"	""	""	""	""	""	"# 608051"	"Retinal dystrophy"	""
"0000333557"	"04214"	"00444304"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000333558"	"04214"	"00444305"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000336682"	"00198"	"00447483"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000336683"	"00198"	"00447484"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000339963"	"04249"	"00450908"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000343600"	"04230"	"00455003"	"04752"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"COD4"	"achromatopsia"	""
"0000343601"	"04230"	"00455004"	"04752"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"COD4"	"achromatopsia"	""
"0000343602"	"04230"	"00455005"	"04752"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"COD4"	"achromatopsia"	""
"0000343603"	"04230"	"00455006"	"04752"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"COD4"	"achromatopsia"	""
"0000348622"	"04214"	"00461122"	"00006"	"Familial, autosomal recessive"	""	""	"6m"	""	""	""	""	""	""	""	""	"Best disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 134
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000230684"	"00229591"	"1"	"01807"	"01807"	"2019-04-04 13:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000291344"	"00290176"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309522"	"00308378"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309541"	"00308397"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309542"	"00308398"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309807"	"00308662"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000310440"	"00309295"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310441"	"00309296"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000329184"	"00327969"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329332"	"00328117"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329465"	"00328250"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000332946"	"00331727"	"1"	"00000"	"00006"	"2021-02-12 17:18:57"	""	""	"SEQ"	"DNA"	""	""
"0000333500"	"00332280"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333693"	"00332469"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000334590"	"00333365"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000336454"	"00335225"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000360260"	"00359022"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363373"	"00362144"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363374"	"00362145"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363375"	"00362146"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364153"	"00362925"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364602"	"00363374"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364834"	"00363606"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364860"	"00363632"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364925"	"00363697"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000379209"	"00378005"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	"blood"	""
"0000379210"	"00378006"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	"blood"	""
"0000379254"	"00378055"	"1"	"03508"	"03508"	"2021-08-04 04:14:35"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380842"	"00379643"	"1"	"03508"	"03508"	"2021-08-06 05:15:24"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380884"	"00379683"	"1"	"03508"	"03508"	"2021-08-06 10:15:46"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381291"	"00380088"	"1"	"03508"	"03508"	"2021-08-10 08:31:53"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381428"	"00379683"	"1"	"03508"	"03508"	"2021-08-13 04:55:10"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000382068"	"00380854"	"1"	"00000"	"03840"	"2021-08-23 12:31:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome sequencing"
"0000382073"	"00380859"	"1"	"00000"	"03840"	"2021-08-23 12:31:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome sequencing"
"0000382357"	"00381142"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000383546"	"00382332"	"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"
"0000384733"	"00383508"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000385437"	"00384212"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385678"	"00384453"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000387403"	"00386174"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387434"	"00386205"	"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"	""
"0000387513"	"00386284"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000391024"	"00389781"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391160"	"00389917"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391161"	"00389918"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000391227"	"00389984"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391581"	"00390340"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391582"	"00390341"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391583"	"00390342"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392196"	"00390955"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392623"	"00391381"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000393070"	"00391827"	"1"	"00006"	"00006"	"2021-11-19 11:19:46"	""	""	"SEQ"	"DNA"	""	""
"0000393165"	"00391923"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000393166"	"00391924"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000393167"	"00391925"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000393168"	"00391926"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000393169"	"00391927"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000393170"	"00391928"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000393171"	"00391929"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000395233"	"00393985"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000400015"	"00398774"	"1"	"00000"	"03840"	"2022-01-12 12:43:53"	""	""	"SEQ-NG"	"DNA"	""	"tagreted next-generation sequencing"
"0000417339"	"00416059"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000417340"	"00416060"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000417341"	"00416061"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000417342"	"00416062"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000417343"	"00416063"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417344"	"00416064"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417345"	"00416065"	"1"	"00000"	"03840"	"2022-08-22 17:22:08"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417388"	"00416108"	"1"	"00000"	"03840"	"2022-08-22 20:42:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417389"	"00416109"	"1"	"00000"	"03840"	"2022-08-22 20:42:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417390"	"00416110"	"1"	"00000"	"03840"	"2022-08-22 20:42:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417391"	"00416111"	"1"	"00000"	"03840"	"2022-08-22 20:42:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417392"	"00416112"	"1"	"00000"	"03840"	"2022-08-22 20:42:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417393"	"00416113"	"1"	"00000"	"03840"	"2022-08-22 20:42:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417394"	"00416115"	"1"	"00000"	"03840"	"2022-08-23 11:25:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417395"	"00416116"	"1"	"00000"	"03840"	"2022-08-23 11:25:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417396"	"00416117"	"1"	"00000"	"03840"	"2022-08-23 11:25:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417397"	"00416118"	"1"	"00000"	"03840"	"2022-08-23 11:25:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417398"	"00416119"	"1"	"00000"	"03840"	"2022-08-23 11:25:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417399"	"00416120"	"1"	"00000"	"03840"	"2022-08-23 11:25:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417401"	"00416122"	"1"	"00000"	"03840"	"2022-08-23 13:59:06"	""	""	"SEQ"	"DNA"	"blood"	"whole-exome sequencing, also in mother and father"
"0000417402"	"00416123"	"1"	"00000"	"03840"	"2022-08-23 13:59:06"	""	""	"SEQ"	"DNA"	"blood"	"whole-exome sequencing, also in mother and father"
"0000417408"	"00416129"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417409"	"00416130"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417410"	"00416131"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417411"	"00416132"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417412"	"00416133"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417413"	"00416134"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417414"	"00416135"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417415"	"00416136"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417416"	"00416137"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417417"	"00416138"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417418"	"00416139"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417419"	"00416140"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417420"	"00416141"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417421"	"00416142"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417422"	"00416143"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417423"	"00416144"	"1"	"00000"	"03840"	"2022-08-23 17:29:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000417471"	"00416192"	"1"	"00000"	"03840"	"2022-08-23 20:15:44"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000417473"	"00416194"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000417474"	"00416195"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000417475"	"00416196"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000417476"	"00416197"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000417477"	"00416198"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000417478"	"00416199"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000417479"	"00416200"	"1"	"00000"	"03840"	"2022-08-24 10:51:33"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"176 genes associated with retinal dystrophy, panel next-generation sequencing"
"0000421016"	"00419711"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421017"	"00419712"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000424545"	"00423235"	"1"	"00000"	"03840"	"2022-11-14 11:51:40"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"panel next-generation sequencing"
"0000424546"	"00423236"	"1"	"00000"	"03840"	"2022-11-14 11:51:40"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"panel next-generation sequencing"
"0000424547"	"00423237"	"1"	"00000"	"03840"	"2022-11-14 11:51:40"	""	""	"SEQ"	"DNA"	""	""
"0000424548"	"00423238"	"1"	"00000"	"03840"	"2022-11-14 11:55:00"	""	""	"SEQ"	"DNA"	""	""
"0000424549"	"00423239"	"1"	"00000"	"03840"	"2022-11-14 11:55:00"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole exome sequencing"
"0000424550"	"00423240"	"1"	"00000"	"03840"	"2022-11-14 12:34:03"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing achromatopsia 6 genes panel"
"0000424551"	"00423241"	"1"	"00000"	"03840"	"2022-11-14 12:34:03"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing achromatopsia 6 genes panel"
"0000424552"	"00423242"	"1"	"00000"	"03840"	"2022-11-14 12:34:03"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing retinal dystrophy 325 genes panel"
"0000424553"	"00423243"	"1"	"00000"	"03840"	"2022-11-14 12:34:03"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing retinal dystrophy 325 genes panel"
"0000424554"	"00423244"	"1"	"00000"	"03840"	"2022-11-14 13:20:55"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing panel"
"0000424555"	"00423245"	"1"	"00000"	"03840"	"2022-11-14 13:20:55"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing panel"
"0000424556"	"00423246"	"1"	"00000"	"03840"	"2022-11-14 13:20:55"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing panel"
"0000424557"	"00423247"	"1"	"00000"	"03840"	"2022-11-14 13:20:55"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing panel"
"0000438077"	"00436593"	"1"	"04552"	"04552"	"2023-09-21 23:22:16"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000445878"	"00444304"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445879"	"00444305"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000449060"	"00447483"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449061"	"00447484"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452506"	"00450908"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452719"	"00451120"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000456616"	"00455003"	"1"	"04752"	"00006"	"2024-09-30 16:23:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456617"	"00455004"	"1"	"04752"	"00006"	"2024-09-30 16:23:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456618"	"00455005"	"1"	"04752"	"00006"	"2024-09-30 16:23:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456619"	"00455006"	"1"	"04752"	"00006"	"2024-09-30 16:23:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000462754"	"00461122"	"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 = 112
"{{screeningid}}"	"{{geneid}}"
"0000309522"	"PDE6C"
"0000309541"	"PDE6C"
"0000309542"	"PDE6C"
"0000309807"	"PDE6C"
"0000310440"	"PDE6C"
"0000310441"	"PDE6C"
"0000329184"	"PDE6C"
"0000329332"	"PDE6C"
"0000329465"	"PDE6C"
"0000332946"	"PDE6C"
"0000333500"	"PDE6C"
"0000333693"	"PDE6C"
"0000336454"	"PDE6C"
"0000363373"	"PDE6C"
"0000363374"	"PDE6C"
"0000363375"	"PDE6C"
"0000364153"	"PDE6C"
"0000364602"	"PDE6C"
"0000364834"	"PDE6C"
"0000364860"	"PDE6C"
"0000364925"	"PDE6C"
"0000379209"	"PDE6C"
"0000379210"	"PDE6C"
"0000382068"	"PDE6C"
"0000382073"	"PDE6C"
"0000382357"	"PDE6C"
"0000383546"	"NR2E3"
"0000384733"	"PDE6C"
"0000385437"	"PDE6C"
"0000385678"	"PDE6C"
"0000387403"	"AIPL1"
"0000387434"	"CERKL"
"0000387502"	"C21orf2"
"0000387513"	"RPGR"
"0000391024"	"PDE6C"
"0000391160"	"PDE6C"
"0000391161"	"PDE6C"
"0000391227"	"PDE6C"
"0000391581"	"PDE6C"
"0000391582"	"PDE6C"
"0000391583"	"PDE6C"
"0000392196"	"PDE6C"
"0000392623"	"PDE6C"
"0000393070"	"CNGB3"
"0000393165"	"PDE6C"
"0000393166"	"PDE6C"
"0000393167"	"PDE6C"
"0000393168"	"PDE6C"
"0000393169"	"PDE6C"
"0000393170"	"PDE6C"
"0000393171"	"PDE6C"
"0000395233"	"PDE6C"
"0000400015"	"PDE6C"
"0000417339"	"PDE6C"
"0000417340"	"PDE6C"
"0000417341"	"PDE6C"
"0000417342"	"PDE6C"
"0000417343"	"PDE6C"
"0000417344"	"PDE6C"
"0000417345"	"PDE6C"
"0000417388"	"PDE6C"
"0000417389"	"PDE6C"
"0000417390"	"PDE6C"
"0000417391"	"PDE6C"
"0000417392"	"PDE6C"
"0000417393"	"PDE6C"
"0000417394"	"PDE6C"
"0000417395"	"PDE6C"
"0000417396"	"PDE6C"
"0000417397"	"PDE6C"
"0000417398"	"PDE6C"
"0000417399"	"PDE6C"
"0000417401"	"PDE6C"
"0000417402"	"PDE6C"
"0000417408"	"PDE6C"
"0000417409"	"PDE6C"
"0000417410"	"PDE6C"
"0000417411"	"PDE6C"
"0000417412"	"PDE6C"
"0000417413"	"PDE6C"
"0000417414"	"PDE6C"
"0000417415"	"PDE6C"
"0000417416"	"PDE6C"
"0000417417"	"PDE6C"
"0000417418"	"PDE6C"
"0000417419"	"PDE6C"
"0000417420"	"PDE6C"
"0000417421"	"PDE6C"
"0000417422"	"PDE6C"
"0000417423"	"PDE6C"
"0000417471"	"PDE6C"
"0000417473"	"PDE6C"
"0000417474"	"PDE6C"
"0000417475"	"PDE6C"
"0000417476"	"PDE6C"
"0000417477"	"PDE6C"
"0000417478"	"PDE6C"
"0000417479"	"PDE6C"
"0000424545"	"PDE6C"
"0000424546"	"PDE6C"
"0000424547"	"PDE6C"
"0000424548"	"PDE6C"
"0000424549"	"PDE6C"
"0000424550"	"PDE6C"
"0000424551"	"PDE6C"
"0000424552"	"PDE6C"
"0000424553"	"PDE6C"
"0000424554"	"PDE6C"
"0000424555"	"PDE6C"
"0000424556"	"PDE6C"
"0000424557"	"PDE6C"
"0000438077"	"PDE6C"


## 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 = 265
"{{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}}"
"0000246947"	"0"	"30"	"10"	"95422918"	"95422918"	"subst"	"0.00231982"	"02330"	"PDE6C_000031"	"g.95422918A>G"	""	""	""	"PDE6C(NM_006204.3):c.2501A>G (p.E834G), PDE6C(NM_006204.4):c.2501A>G (p.E834G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93663161A>G"	""	"likely benign"	""
"0000249149"	"0"	"10"	"10"	"95395247"	"95395247"	"subst"	"0.733443"	"02325"	"PDE6C_000014"	"g.95395247A>G"	""	""	""	"PDE6C(NM_006204.4):c.1270-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93635490A>G"	""	"benign"	""
"0000255083"	"0"	"30"	"10"	"95386586"	"95386586"	"subst"	"0"	"01943"	"PDE6C_000011"	"g.95386586A>T"	""	""	""	"PDE6C(NM_006204.3):c.1029A>T (p.T343=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93626829A>T"	""	"likely benign"	""
"0000293622"	"0"	"10"	"10"	"95394509"	"95394509"	"subst"	"0.000187059"	"02330"	"PDE6C_000013"	"g.95394509T>C"	""	""	""	"PDE6C(NM_006204.4):c.1120-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93634752T>C"	""	"benign"	""
"0000293623"	"0"	"30"	"10"	"95400694"	"95400694"	"subst"	"0.00591451"	"02330"	"PDE6C_000017"	"g.95400694G>T"	""	""	""	"PDE6C(NM_006204.3):c.1755G>T (p.K585N), PDE6C(NM_006204.4):c.1755G>T (p.K585N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93640937G>T"	""	"likely benign"	""
"0000293624"	"0"	"30"	"10"	"95405808"	"95405808"	"subst"	"6.92261E-5"	"02330"	"PDE6C_000018"	"g.95405808C>T"	""	""	""	"PDE6C(NM_006204.4):c.1935+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93646051C>T"	""	"likely benign"	""
"0000293625"	"0"	"10"	"10"	"95418846"	"95418846"	"del"	"0"	"02330"	"PDE6C_000021"	"g.95418846del"	""	""	""	"PDE6C(NM_006204.4):c.2145-15delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93659089del"	""	"benign"	""
"0000293626"	"0"	"50"	"10"	"95421826"	"95421826"	"subst"	"8.13994E-6"	"02330"	"PDE6C_000022"	"g.95421826T>C"	""	""	""	"PDE6C(NM_006204.3):c.2219T>C (p.M740T), PDE6C(NM_006204.4):c.2219T>C (p.M740T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93662069T>C"	""	"VUS"	""
"0000293627"	"0"	"10"	"10"	"95422883"	"95422883"	"subst"	"0.00114827"	"02330"	"PDE6C_000023"	"g.95422883G>A"	""	""	""	"PDE6C(NM_006204.3):c.2466G>A (p.K822=), PDE6C(NM_006204.4):c.2466G>A (p.K822=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93663126G>A"	""	"benign"	""
"0000293628"	"0"	"30"	"10"	"95422894"	"95422894"	"subst"	"0.000480566"	"02330"	"PDE6C_000024"	"g.95422894T>C"	""	""	""	"PDE6C(NM_006204.4):c.2477T>C (p.I826T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93663137T>C"	""	"likely benign"	""
"0000293629"	"0"	"10"	"10"	"95372734"	"95372734"	"subst"	"0.00123397"	"02330"	"PDE6C_000001"	"g.95372734G>T"	""	""	""	"PDE6C(NM_006204.3):c.252G>T (p.L84=), PDE6C(NM_006204.4):c.252G>T (p.L84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93612977G>T"	""	"benign"	""
"0000293630"	"0"	"30"	"10"	"95372895"	"95372895"	"subst"	"0.00124955"	"02330"	"PDE6C_000005"	"g.95372895T>C"	""	""	""	"PDE6C(NM_006204.3):c.413T>C (p.L138S), PDE6C(NM_006204.4):c.413T>C (p.L138S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93613138T>C"	""	"likely benign"	""
"0000293631"	"0"	"10"	"10"	"95372929"	"95372929"	"subst"	"1.24028E-5"	"02330"	"PDE6C_000006"	"g.95372929G>A"	""	""	""	"PDE6C(NM_006204.4):c.447G>A (p.T149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93613172G>A"	""	"benign"	""
"0000293632"	"0"	"10"	"10"	"95381674"	"95381674"	"subst"	"0.00156408"	"02330"	"PDE6C_000008"	"g.95381674G>T"	""	""	""	"PDE6C(NM_006204.4):c.724-15G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93621917G>T"	""	"benign"	""
"0000293633"	"0"	"30"	"10"	"95381766"	"95381766"	"subst"	"4.875E-5"	"02330"	"PDE6C_000009"	"g.95381766G>A"	""	""	""	"PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93622009G>A"	""	"likely benign"	""
"0000296851"	"0"	"10"	"10"	"95389041"	"95389041"	"subst"	"0.352001"	"02325"	"PDE6C_000012"	"g.95389041G>A"	""	""	""	"PDE6C(NM_006204.4):c.1098G>A (p.A366=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93629284G>A"	""	"benign"	""
"0000296852"	"0"	"10"	"10"	"95395364"	"95395364"	"subst"	"0.273959"	"02325"	"PDE6C_000015"	"g.95395364C>G"	""	""	""	"PDE6C(NM_006204.4):c.1380C>G (p.T460=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93635607C>G"	""	"benign"	""
"0000296853"	"0"	"10"	"10"	"95405814"	"95405814"	"subst"	"0.45784"	"02325"	"PDE6C_000019"	"g.95405814C>A"	""	""	""	"PDE6C(NM_006204.4):c.1935+10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93646057C>A"	""	"benign"	""
"0000296854"	"0"	"10"	"10"	"95372734"	"95372734"	"subst"	"0.161068"	"02325"	"PDE6C_000002"	"g.95372734G>A"	""	""	""	"PDE6C(NM_006204.4):c.252G>A (p.L84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93612977G>A"	""	"benign"	""
"0000296855"	"0"	"10"	"10"	"95381773"	"95381773"	"subst"	"0.374977"	"02325"	"PDE6C_000010"	"g.95381773T>A"	""	""	""	"PDE6C(NM_006204.4):c.808T>A (p.S270T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93622016T>A"	""	"benign"	""
"0000305365"	"0"	"30"	"10"	"95399916"	"95399916"	"subst"	"0"	"01943"	"PDE6C_000016"	"g.95399916T>C"	""	""	""	"PDE6C(NM_006204.3):c.1572T>C (p.C524=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93640159T>C"	""	"likely benign"	""
"0000305366"	"0"	"30"	"10"	"95400694"	"95400694"	"subst"	"0.00591451"	"01943"	"PDE6C_000017"	"g.95400694G>T"	""	""	""	"PDE6C(NM_006204.3):c.1755G>T (p.K585N), PDE6C(NM_006204.4):c.1755G>T (p.K585N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93640937G>T"	""	"likely benign"	""
"0000305367"	"0"	"30"	"10"	"95418651"	"95418651"	"subst"	"0.00235951"	"01943"	"PDE6C_000020"	"g.95418651T>C"	""	""	""	"PDE6C(NM_006204.3):c.2037-7T>C, PDE6C(NM_006204.4):c.2037-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93658894T>C"	""	"likely benign"	""
"0000305368"	"0"	"10"	"10"	"95422883"	"95422883"	"subst"	"0.00114827"	"01943"	"PDE6C_000023"	"g.95422883G>A"	""	""	""	"PDE6C(NM_006204.3):c.2466G>A (p.K822=), PDE6C(NM_006204.4):c.2466G>A (p.K822=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93663126G>A"	""	"benign"	""
"0000305369"	"0"	"30"	"10"	"95422929"	"95422929"	"subst"	"8.99832E-5"	"01943"	"PDE6C_000032"	"g.95422929G>A"	""	""	""	"PDE6C(NM_006204.3):c.2512G>A (p.E838K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93663172G>A"	""	"likely benign"	""
"0000305370"	"0"	"30"	"10"	"95372734"	"95372734"	"subst"	"0.00123397"	"01943"	"PDE6C_000001"	"g.95372734G>T"	""	""	""	"PDE6C(NM_006204.3):c.252G>T (p.L84=), PDE6C(NM_006204.4):c.252G>T (p.L84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93612977G>T"	""	"likely benign"	""
"0000305371"	"0"	"50"	"10"	"95372798"	"95372798"	"subst"	"2.86142E-5"	"01943"	"PDE6C_000003"	"g.95372798G>A"	""	""	""	"PDE6C(NM_006204.3):c.316G>A (p.G106S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93613041G>A"	""	"VUS"	""
"0000305372"	"0"	"30"	"10"	"95380639"	"95380639"	"subst"	"4.06108E-5"	"01943"	"PDE6C_000007"	"g.95380639C>T"	""	""	""	"PDE6C(NM_006204.3):c.634-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93620882C>T"	""	"likely benign"	""
"0000321684"	"0"	"50"	"10"	"95372882"	"95372882"	"subst"	"0"	"01804"	"PDE6C_000004"	"g.95372882G>A"	""	""	""	"PDE6C(NM_006204.3):c.400G>A (p.(Val134Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93613125G>A"	""	"VUS"	""
"0000338941"	"0"	"10"	"10"	"95395245"	"95395245"	"subst"	"0.0614787"	"02327"	"PDE6C_000028"	"g.95395245C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93635488C>T"	""	"benign"	""
"0000338942"	"0"	"10"	"10"	"95395247"	"95395247"	"subst"	"0.733443"	"02327"	"PDE6C_000014"	"g.95395247A>G"	""	""	""	"PDE6C(NM_006204.4):c.1270-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93635490A>G"	""	"benign"	""
"0000338943"	"0"	"10"	"10"	"95405814"	"95405814"	"subst"	"0.45784"	"02327"	"PDE6C_000019"	"g.95405814C>A"	""	""	""	"PDE6C(NM_006204.4):c.1935+10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93646057C>A"	""	"benign"	""
"0000340582"	"0"	"10"	"10"	"95372734"	"95372734"	"subst"	"0.161068"	"02327"	"PDE6C_000002"	"g.95372734G>A"	""	""	""	"PDE6C(NM_006204.4):c.252G>A (p.L84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93612977G>A"	""	"benign"	""
"0000340583"	"0"	"10"	"10"	"95372764"	"95372764"	"subst"	"0.0790348"	"02327"	"PDE6C_000025"	"g.95372764C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93613007C>T"	""	"benign"	""
"0000340584"	"0"	"10"	"10"	"95389041"	"95389041"	"subst"	"0.352001"	"02327"	"PDE6C_000012"	"g.95389041G>A"	""	""	""	"PDE6C(NM_006204.4):c.1098G>A (p.A366=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93629284G>A"	""	"benign"	""
"0000340585"	"0"	"10"	"10"	"95395364"	"95395364"	"subst"	"0.273959"	"02327"	"PDE6C_000015"	"g.95395364C>G"	""	""	""	"PDE6C(NM_006204.4):c.1380C>G (p.T460=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93635607C>G"	""	"benign"	""
"0000342446"	"0"	"90"	"10"	"95381740"	"95381740"	"subst"	"8.12493E-6"	"02327"	"PDE6C_000026"	"g.95381740C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93621983C>T"	""	"pathogenic"	""
"0000343100"	"0"	"90"	"10"	"95400246"	"95400246"	"subst"	"4.06197E-6"	"02327"	"PDE6C_000029"	"g.95400246C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93640489C>T"	""	"pathogenic"	""
"0000343369"	"0"	"50"	"10"	"95422795"	"95422795"	"subst"	"0"	"02327"	"PDE6C_000030"	"g.95422795G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93663038G>A"	""	"VUS"	""
"0000348894"	"0"	"10"	"10"	"95381773"	"95381773"	"subst"	"0.374977"	"02327"	"PDE6C_000010"	"g.95381773T>A"	""	""	""	"PDE6C(NM_006204.4):c.808T>A (p.S270T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93622016T>A"	""	"benign"	""
"0000351470"	"0"	"50"	"10"	"95385411"	"95385411"	"subst"	"8.14783E-6"	"02327"	"PDE6C_000027"	"g.95385411G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.93625654G>A"	""	"VUS"	""
"0000472273"	"3"	"50"	"10"	"95381717"	"95381717"	"subst"	"0"	"01807"	"PDE6C_000033"	"g.95381717T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.93621960T>C"	""	"VUS"	""
"0000541657"	"0"	"10"	"10"	"95372685"	"95372685"	"subst"	"0.00163711"	"02330"	"PDE6C_000034"	"g.95372685C>T"	""	""	""	"PDE6C(NM_006204.4):c.203C>T (p.T68I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93612928C>T"	""	"benign"	""
"0000541658"	"0"	"50"	"10"	"95372880"	"95372882"	"del"	"0"	"02330"	"PDE6C_000035"	"g.95372880_95372882del"	""	""	""	"PDE6C(NM_006204.4):c.398_400delAAG (p.E133del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93613123_93613125del"	""	"VUS"	""
"0000541659"	"0"	"30"	"10"	"95389047"	"95389047"	"subst"	"0.000406256"	"01943"	"PDE6C_000036"	"g.95389047A>G"	""	""	""	"PDE6C(NM_006204.3):c.1104A>G (p.E368=), PDE6C(NM_006204.4):c.1104A>G (p.E368=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93629290A>G"	""	"likely benign"	""
"0000541660"	"0"	"30"	"10"	"95395246"	"95395246"	"subst"	"0.000199135"	"01943"	"PDE6C_000037"	"g.95395246C>T"	""	""	""	"PDE6C(NM_006204.3):c.1270-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93635489C>T"	""	"likely benign"	""
"0000541661"	"0"	"30"	"10"	"95395323"	"95395323"	"subst"	"0.000219375"	"02330"	"PDE6C_000038"	"g.95395323A>G"	""	""	""	"PDE6C(NM_006204.3):c.1339A>G (p.N447D), PDE6C(NM_006204.4):c.1339A>G (p.N447D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93635566A>G"	""	"likely benign"	""
"0000541662"	"0"	"50"	"10"	"95395323"	"95395323"	"subst"	"0.000219375"	"01943"	"PDE6C_000038"	"g.95395323A>G"	""	""	""	"PDE6C(NM_006204.3):c.1339A>G (p.N447D), PDE6C(NM_006204.4):c.1339A>G (p.N447D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93635566A>G"	""	"VUS"	""
"0000541663"	"0"	"50"	"10"	"95399842"	"95399842"	"subst"	"0"	"01943"	"PDE6C_000039"	"g.95399842G>T"	""	""	""	"PDE6C(NM_006204.3):c.1498G>T (p.D500Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93640085G>T"	""	"VUS"	""
"0000541664"	"0"	"10"	"10"	"95400709"	"95400709"	"subst"	"6.50756E-5"	"02330"	"PDE6C_000040"	"g.95400709C>T"	""	""	""	"PDE6C(NM_006204.4):c.1770C>T (p.L590=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93640952C>T"	""	"benign"	""
"0000541665"	"0"	"30"	"10"	"95405723"	"95405723"	"subst"	"0.000146401"	"01943"	"PDE6C_000041"	"g.95405723G>A"	""	""	""	"PDE6C(NM_006204.3):c.1854G>A (p.T618=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93645966G>A"	""	"likely benign"	""
"0000541666"	"0"	"30"	"10"	"95415508"	"95415508"	"subst"	"0.00626995"	"01943"	"PDE6C_000042"	"g.95415508A>G"	""	""	""	"PDE6C(NM_006204.3):c.1936-9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93655751A>G"	""	"likely benign"	""
"0000541667"	"0"	"50"	"10"	"95418693"	"95418693"	"subst"	"8.14219E-6"	"01943"	"PDE6C_000043"	"g.95418693G>A"	""	""	""	"PDE6C(NM_006204.3):c.2072G>A (p.C691Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93658936G>A"	""	"VUS"	""
"0000541668"	"0"	"30"	"10"	"95418703"	"95418703"	"subst"	"0.00186819"	"02330"	"PDE6C_000044"	"g.95418703G>A"	""	""	""	"PDE6C(NM_006204.3):c.2082G>A (p.M694I), PDE6C(NM_006204.4):c.2082G>A (p.M694I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93658946G>A"	""	"likely benign"	""
"0000541669"	"0"	"50"	"10"	"95418703"	"95418703"	"subst"	"0.00186819"	"01943"	"PDE6C_000044"	"g.95418703G>A"	""	""	""	"PDE6C(NM_006204.3):c.2082G>A (p.M694I), PDE6C(NM_006204.4):c.2082G>A (p.M694I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93658946G>A"	""	"VUS"	""
"0000541670"	"0"	"10"	"10"	"95418780"	"95418780"	"subst"	"0.00037658"	"02330"	"PDE6C_000045"	"g.95418780T>C"	""	""	""	"PDE6C(NM_006204.4):c.2144+15T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93659023T>C"	""	"benign"	""
"0000541671"	"0"	"10"	"10"	"95418938"	"95418938"	"subst"	"0.00203662"	"02330"	"PDE6C_000046"	"g.95418938A>C"	""	""	""	"PDE6C(NM_006204.4):c.2208+14A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93659181A>C"	""	"benign"	""
"0000541672"	"0"	"50"	"10"	"95421826"	"95421826"	"subst"	"8.13994E-6"	"01943"	"PDE6C_000022"	"g.95421826T>C"	""	""	""	"PDE6C(NM_006204.3):c.2219T>C (p.M740T), PDE6C(NM_006204.4):c.2219T>C (p.M740T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93662069T>C"	""	"VUS"	""
"0000541673"	"0"	"10"	"10"	"95422842"	"95422842"	"subst"	"0.00126659"	"02330"	"PDE6C_000156"	"g.95422842A>C"	""	""	""	"PDE6C(NM_006204.3):c.2425A>C (p.R809=), PDE6C(NM_006204.4):c.2425A>C (p.R809=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93663085A>C"	""	"benign"	""
"0000541674"	"0"	"30"	"10"	"95422842"	"95422842"	"subst"	"0.00126659"	"01943"	"PDE6C_000156"	"g.95422842A>C"	""	""	""	"PDE6C(NM_006204.3):c.2425A>C (p.R809=), PDE6C(NM_006204.4):c.2425A>C (p.R809=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93663085A>C"	""	"likely benign"	""
"0000541675"	"0"	"10"	"10"	"95422898"	"95422898"	"subst"	"2.03638E-5"	"02330"	"PDE6C_000157"	"g.95422898A>G"	""	""	""	"PDE6C(NM_006204.4):c.2481A>G (p.E827=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93663141A>G"	""	"benign"	""
"0000612817"	"0"	"30"	"10"	"95381842"	"95381842"	"subst"	"0.000394996"	"02330"	"PDE6C_000047"	"g.95381842C>T"	""	""	""	"PDE6C(NM_006204.4):c.864+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93622085C>T"	""	"likely benign"	""
"0000612818"	"0"	"30"	"10"	"95389047"	"95389047"	"subst"	"0.000406256"	"02330"	"PDE6C_000036"	"g.95389047A>G"	""	""	""	"PDE6C(NM_006204.3):c.1104A>G (p.E368=), PDE6C(NM_006204.4):c.1104A>G (p.E368=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93629290A>G"	""	"likely benign"	""
"0000612819"	"0"	"50"	"10"	"95394654"	"95394654"	"subst"	"0"	"02327"	"PDE6C_000048"	"g.95394654A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93634897A>G"	""	"VUS"	""
"0000612820"	"0"	"50"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"01943"	"PDE6C_000049"	"g.95400710G>A"	""	""	""	"PDE6C(NM_006204.3):c.1771G>A (p.E591K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93640953G>A"	""	"VUS"	""
"0000612821"	"0"	"50"	"10"	"95422806"	"95422806"	"subst"	"0"	"02330"	"PDE6C_000158"	"g.95422806G>A"	""	""	""	"PDE6C(NM_006204.4):c.2389G>A (p.E797K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93663049G>A"	""	"VUS"	""
"0000648033"	"1"	"30"	"10"	"95400694"	"95400694"	"subst"	"0.00591451"	"03575"	"PDE6C_000017"	"g.95400694G>T"	"10/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"10 heterozygous, no homozygous; {DB:CLININrs45522236}"	"Germline"	""	"rs45522236"	"0"	""	""	"g.93640937G>T"	""	"likely benign"	""
"0000656605"	"0"	"50"	"10"	"95422918"	"95422918"	"subst"	"0.00231982"	"01943"	"PDE6C_000031"	"g.95422918A>G"	""	""	""	"PDE6C(NM_006204.3):c.2501A>G (p.E834G), PDE6C(NM_006204.4):c.2501A>G (p.E834G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.93663161A>G"	""	"VUS"	""
"0000678961"	"0"	"50"	"10"	"95372895"	"95372895"	"subst"	"0.00124955"	"01943"	"PDE6C_000005"	"g.95372895T>C"	""	""	""	"PDE6C(NM_006204.3):c.413T>C (p.L138S), PDE6C(NM_006204.4):c.413T>C (p.L138S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000684387"	"3"	"70"	"10"	"95380450"	"95380450"	"del"	"0"	"00004"	"PDE6C_000051"	"g.95380450del"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93620693del"	""	"likely pathogenic (recessive)"	""
"0000684406"	"3"	"70"	"10"	"95395400"	"95395400"	"subst"	"0"	"00004"	"PDE6C_000054"	"g.95395400A>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93635643A>T"	""	"likely pathogenic (recessive)"	""
"0000684407"	"1"	"70"	"10"	"95395309"	"95395309"	"subst"	"0"	"00004"	"PDE6C_000052"	"g.95395309T>A"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93635552T>A"	""	"likely pathogenic (recessive)"	""
"0000684431"	"2"	"70"	"10"	"95395359"	"95395359"	"subst"	"0"	"00004"	"PDE6C_000053"	"g.95395359C>G"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93635602C>G"	""	"likely pathogenic (recessive)"	""
"0000684680"	"1"	"50"	"10"	"95400220"	"95400220"	"subst"	"8.12612E-6"	"00004"	"PDE6C_000056"	"g.95400220G>T"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000684710"	"2"	"70"	"10"	"95422924"	"95422924"	"del"	"0"	"00004"	"PDE6C_000057"	"g.95422924del"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	"c.2507delG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685351"	"0"	"70"	"10"	"95380398"	"95380398"	"subst"	"0"	"00004"	"PDE6C_000050"	"g.95380398T>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685352"	"0"	"70"	"10"	"95399939"	"95399939"	"subst"	"0"	"00004"	"PDE6C_000055"	"g.95399939T>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000690845"	"0"	"50"	"10"	"95381766"	"95381766"	"subst"	"4.875E-5"	"01943"	"PDE6C_000009"	"g.95381766G>A"	""	""	""	"PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000713307"	"3"	"90"	"10"	"95381830"	"95381830"	"subst"	"0"	"00000"	"PDE6C_000060"	"g.95381830G>A"	""	"{PMID:Carss 2017:28041643}"	""	"10:95381830G>A ENST00000371447.3:c.864+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713455"	"0"	"90"	"10"	"95380503"	"95380503"	"subst"	"0"	"00000"	"PDE6C_000058"	"g.95380503A>G"	""	"{PMID:Carss 2017:28041643}"	""	"10:95380503A>G ENST00000371447.3:c.595A>G (Lys199Glu)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713588"	"3"	"90"	"10"	"95380539"	"95380539"	"subst"	"0"	"00000"	"PDE6C_000059"	"g.95380539G>T"	""	"{PMID:Carss 2017:28041643}"	""	"10:95380539G>T ENST00000371447.3:c.631G>T (Glu211Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713784"	"0"	"90"	"10"	"95400785"	"95400788"	"del"	"0"	"00000"	"PDE6C_000061"	"g.95400785_95400788del"	""	"{PMID:Carss 2017:28041643}"	""	"10:95400784GAAGT>G ENST00000371447.3:c.1847+3_1847+6delAAGT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000723028"	"0"	"50"	"10"	"95372793"	"95372793"	"subst"	"1.63421E-5"	"02330"	"PDE6C_000062"	"g.95372793G>A"	""	""	""	"PDE6C(NM_006204.4):c.311G>A (p.R104Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723029"	"0"	"30"	"10"	"95422803"	"95422803"	"subst"	"6.92747E-5"	"01943"	"PDE6C_000159"	"g.95422803A>G"	""	""	""	"PDE6C(NM_006204.3):c.2386A>G (p.K796E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000730326"	"3"	"90"	"10"	"95381822"	"95381822"	"del"	"0"	"00000"	"PDE6C_000063"	"g.95381822del"	""	"{PMID:Matet 2018:29618791}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93622065del"	""	"pathogenic (recessive)"	""
"0000731154"	"3"	"90"	"10"	"95422845"	"95422845"	"del"	"0"	"00000"	"PDE6C_000064"	"g.95422845del"	""	"{PMID:Porto 2017:29186038}"	""	"2428delG"	""	"Germline"	""	""	"0"	""	""	"g.93663088del"	""	"pathogenic (recessive)"	""
"0000731442"	"3"	"70"	"10"	"95415598"	"95415598"	"subst"	"4.06693E-6"	"00000"	"PDE6C_000065"	"g.95415598G>T"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93655841G>T"	""	"likely pathogenic (recessive)"	""
"0000732513"	"0"	"90"	"10"	"95386443"	"95386443"	"subst"	"0.00010972"	"00000"	"PDE6C_000066"	"g.95386443A>C"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93626686A>C"	""	"pathogenic"	""
"0000735829"	"3"	"70"	"10"	"95399918"	"95399918"	"subst"	"0"	"00000"	"PDE6C_000067"	"g.95399918G>T"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.93640161G>T"	""	"likely pathogenic"	""
"0000760152"	"0"	"50"	"10"	"95405761"	"95405761"	"subst"	"0"	"00000"	"PDE6C_000068"	"g.95405761A>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93646004A>G"	""	"VUS"	""
"0000760422"	"0"	"50"	"10"	"95405763"	"95405763"	"subst"	"0"	"00000"	"PDE6C_000069"	"g.95405763A>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93646006A>T"	""	"VUS"	""
"0000763950"	"1"	"70"	"10"	"95405805"	"95405805"	"del"	"0"	"00006"	"PDE6C_000071"	"g.95405805del"	""	"{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93646048del"	""	"likely pathogenic (recessive)"	""
"0000763951"	"3"	"70"	"10"	"95386462"	"95386462"	"subst"	"0"	"00006"	"PDE6C_000070"	"g.95386462G>A"	""	"{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93626705G>A"	""	"likely pathogenic (recessive)"	""
"0000763952"	"1"	"70"	"10"	"95386462"	"95386462"	"subst"	"0"	"00006"	"PDE6C_000070"	"g.95386462G>A"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93626705G>A"	""	"likely pathogenic (recessive)"	""
"0000764017"	"2"	"70"	"10"	"95422940"	"95422940"	"subst"	"0"	"00006"	"PDE6C_000072"	"g.95422940G>C"	""	"{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93663183G>C"	""	"likely pathogenic (recessive)"	""
"0000764018"	"2"	"70"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"00006"	"PDE6C_000049"	"g.95400710G>A"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93640953G>A"	""	"likely pathogenic (recessive)"	""
"0000764915"	"1"	"70"	"10"	"95372571"	"95372581"	"del"	"0"	"00000"	"PDE6C_000073"	"g.95372571_95372581del"	""	"{PMID:Weisschuh 2016:26766544}"	""	"88_98del"	""	"Germline"	""	""	"0"	""	""	"g.93612814_93612824del"	""	"likely pathogenic (recessive)"	""
"0000764937"	"2"	"70"	"10"	"95394600"	"95394600"	"subst"	"0"	"00000"	"PDE6C_000074"	"g.95394600T>A"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93634843T>A"	""	"likely pathogenic (recessive)"	""
"0000765467"	"3"	"70"	"10"	"95415586"	"95415586"	"subst"	"0"	"00000"	"PDE6C_000077"	"g.95415586A>G"	"2/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.93655829A>G"	""	"likely pathogenic"	""
"0000765776"	"0"	"70"	"10"	"95399957"	"95399957"	"subst"	"0"	"00000"	"PDE6C_000075"	"g.95399957T>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93640200T>C"	""	"likely pathogenic"	""
"0000765802"	"0"	"70"	"10"	"95385411"	"95385411"	"subst"	"8.14783E-6"	"00000"	"PDE6C_000027"	"g.95385411G>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93625654G>A"	""	"likely pathogenic"	""
"0000765867"	"0"	"70"	"10"	"95415527"	"95415527"	"subst"	"0"	"00000"	"PDE6C_000076"	"g.95415527T>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93655770T>C"	""	"likely pathogenic"	""
"0000792323"	"0"	"90"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Thiadens_2012:22264887}"	""	"c.85C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792324"	"0"	"90"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Thiadens_2012:22264887}"	""	"c.85C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792390"	"0"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"03508"	"PDE6C_000078"	"g.95372567C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000792391"	"0"	"70"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"03508"	"PDE6C_000049"	"g.95400710G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794050"	"0"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"03508"	"PDE6C_000078"	"g.95372567C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794051"	"0"	"70"	"10"	"95381792"	"95381792"	"subst"	"1.62512E-5"	"03508"	"PDE6C_000079"	"g.95381792G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794116"	"0"	"70"	"10"	"95372962"	"95372962"	"subst"	"4.16122E-6"	"03508"	"PDE6C_000080"	"g.95372962G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794686"	"0"	"70"	"10"	"95400223"	"95400223"	"subst"	"8.12486E-6"	"03508"	"PDE6C_000081"	"g.95400223T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794687"	"0"	"70"	"10"	"95400705"	"95400705"	"subst"	"0"	"03508"	"PDE6C_000082"	"g.95400705A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794889"	"0"	"70"	"10"	"95372482"	"95372963"	"del"	"0"	"03508"	"PDE6C_000083"	"g.(?_95372482)_(95372963_95380388)del"	""	""	""	"1-?_480+?del"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_93612725)_(93613206_93620631)del"	""	"VUS"	"ACMG"
"0000795721"	"3"	"70"	"10"	"95405768"	"95405768"	"subst"	"0"	"00000"	"PDE6C_000086"	"g.95405768C>A"	""	"{PMID:Abdelkader 2018:30289319}"	""	"c.1899C>A;p.(His633Gln)"	""	"Germline"	"yes"	""	"0"	""	""	"g.93646011C>A"	""	"likely pathogenic"	""
"0000795726"	"3"	"70"	"10"	"95389014"	"95389014"	"subst"	"4.06246E-6"	"00000"	"PDE6C_000085"	"g.95389014G>C"	""	"{PMID:Abdelkader 2018:30289319}"	""	"c.1072-1G>C"	""	"Germline"	"?"	""	"0"	""	""	"g.93629257G>C"	""	"likely pathogenic"	""
"0000796134"	"3"	"90"	"10"	"95372786"	"95372786"	"subst"	"0"	"00000"	"PDE6C_000084"	"g.95372786C>T"	""	"{PMID:Sundaram_2014:24148654}"	""	"c.304C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797708"	"0"	"70"	"10"	"95400697"	"95400697"	"subst"	"0"	"00000"	"PDE6C_000087"	"g.95400697C>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.119-2A>C, p.(?), c.119-2 A>C, p.(?),, pDE6C c.1758C>A, p.(Tyr586*)"	""	"Germline"	"?"	""	"0"	""	""	"g.93640940C>A"	""	"likely pathogenic"	"ACMG"
"0000804639"	"0"	"50"	"10"	"95372838"	"95372838"	"subst"	"4.50927E-5"	"01943"	"PDE6C_000088"	"g.95372838C>T"	""	""	""	"PDE6C(NM_006204.3):c.356C>T (p.P119L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811501"	"0"	"50"	"10"	"95400220"	"95400220"	"subst"	"8.12612E-6"	"00000"	"PDE6C_000056"	"g.95400220G>T"	""	"{PMID:Kim 2019:31496144}"	""	"PDE6C c.1643G>T, p.W548L"	""	"Germline"	"?"	""	"0"	""	""	"g.93640463G>T"	""	"VUS"	"ACMG"
"0000811531"	"0"	"70"	"10"	"95422924"	"95422924"	"del"	"0"	"00000"	"PDE6C_000057"	"g.95422924del"	""	"{PMID:Kim 2019:31496144}"	""	"PDE6C c.2507delG, p.G836Efs"	""	"Germline"	"?"	""	"0"	""	""	"g.93663167del"	""	"likely pathogenic"	"ACMG"
"0000812485"	"3"	"70"	"10"	"95399956"	"95399956"	"subst"	"0"	"00000"	"PDE6C_000090"	"g.95399956T>A"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.1612T>A, p.(Phe538Ile)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640199T>A"	""	"likely pathogenic"	""
"0000812781"	"3"	"70"	"10"	"95386397"	"95386397"	"subst"	"0"	"00000"	"PDE6C_000089"	"g.95386397G>T"	""	"{PMID:Wang 2019:31106028}"	""	"c.940G>T, p.(Glu314*)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93626640G>T"	""	"likely pathogenic"	""
"0000815534"	"0"	"50"	"10"	"95405795"	"95405795"	"subst"	"0"	"00000"	"PDE6C_000091"	"g.95405795G>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PDE6C:NM_006204 c.G1926T, p.L642F"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.93646038G>T"	""	"VUS"	"ACMG"
"0000815565"	"0"	"50"	"10"	"95372895"	"95372895"	"subst"	"0.00124955"	"00000"	"PDE6C_000005"	"g.95372895T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PDE6C:NM_006204 c.T413C, p.L138S"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.93613138T>C"	""	"VUS"	"ACMG"
"0000815581"	"0"	"50"	"10"	"95418703"	"95418703"	"subst"	"0.00186819"	"00000"	"PDE6C_000044"	"g.95418703G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PDE6C:NM_006204 c.G2082A, p.M694I"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.93658946G>A"	""	"VUS"	"ACMG"
"0000815600"	"0"	"50"	"10"	"95372895"	"95372895"	"subst"	"0.00124955"	"00000"	"PDE6C_000005"	"g.95372895T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PDE6C:NM_006204 c.T413C, p.L138S"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.93613138T>C"	""	"VUS"	"ACMG"
"0000820369"	"1"	"70"	"10"	"95418762"	"95418762"	"subst"	"4.07319E-6"	"00000"	"PDE6C_000093"	"g.95418762T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6C, variant 1: c.2141T>A/p.I714N, variant 2: c.2141T>A/p.I714N"	"possibly solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93659005T>A"	""	"likely pathogenic"	""
"0000820505"	"1"	"70"	"10"	"95385411"	"95385411"	"subst"	"8.14783E-6"	"00000"	"PDE6C_000027"	"g.95385411G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6C, variant 1: c.939+5G>A/p.?, variant 2: c.939+5G>A/p.?"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93625654G>A"	""	"likely pathogenic"	""
"0000820506"	"1"	"70"	"10"	"95385411"	"95385411"	"subst"	"8.14783E-6"	"00000"	"PDE6C_000027"	"g.95385411G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6C, variant 1: c.939+5G>A/p.?, variant 2: c.939+5G>A/p.?"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93625654G>A"	""	"likely pathogenic"	""
"0000820572"	"1"	"70"	"10"	"95418762"	"95418762"	"subst"	"4.07319E-6"	"00000"	"PDE6C_000093"	"g.95418762T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6C, variant 1: c.2141T>A/p.I714N, variant 2: c.2141T>A/p.I714N"	"possibly solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93659005T>A"	""	"likely pathogenic"	""
"0000821330"	"3"	"70"	"10"	"95381830"	"95381830"	"subst"	"0"	"00000"	"PDE6C_000060"	"g.95381830G>A"	""	"{PMID:Turro 2020:32581362}"	""	"PDE6C c.864+1G>A,"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.93622073G>A"	""	"likely pathogenic"	""
"0000821331"	"0"	"70"	"10"	"95400789"	"95400792"	"del"	"0"	"00000"	"PDE6C_000092"	"g.95400789_95400792del"	""	"{PMID:Turro 2020:32581362}"	""	"PDE6C c.1847+3_1847+6delAAGT,"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.93641032_93641035del"	""	"likely pathogenic"	""
"0000821332"	"3"	"70"	"10"	"95380539"	"95380539"	"subst"	"0"	"00000"	"PDE6C_000059"	"g.95380539G>T"	""	"{PMID:Turro 2020:32581362}"	""	"PDE6C c.631G>T, p.Glu211Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.93620782G>T"	""	"likely pathogenic"	""
"0000821591"	"0"	"70"	"10"	"95380503"	"95380503"	"subst"	"0"	"00000"	"PDE6C_000058"	"g.95380503A>G"	""	"{PMID:Turro 2020:32581362}"	""	"PDE6C c.595A>G, p.Lys199Glu"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.93620746A>G"	""	"likely pathogenic"	""
"0000822397"	"0"	"70"	"10"	"95381830"	"95381830"	"subst"	"0"	"00000"	"PDE6C_000060"	"g.95381830G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.864+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822398"	"0"	"70"	"10"	"95381830"	"95381830"	"subst"	"0"	"00000"	"PDE6C_000060"	"g.95381830G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.864+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822966"	"3"	"70"	"10"	"95380398"	"95380398"	"subst"	"0"	"00000"	"PDE6C_000050"	"g.95380398T>C"	""	"{PMID:Méjécase 2020:32783370}"	""	"PDE6C c.490T>C p.(Phe164Leu)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93620641T>C"	""	"likely pathogenic"	""
"0000823701"	"0"	"70"	"10"	"95400694"	"95400694"	"subst"	"0.00591451"	"00006"	"PDE6C_000017"	"g.95400694G>T"	""	"{PMID:Langlo 2014:274798146}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000823822"	"1"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[85C>T];[85C>T]"	"homozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93612810C>T"	""	"likely pathogenic"	""
"0000823823"	"2"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[85C>T];[85C>T]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93612810C>T"	""	"likely pathogenic"	""
"0000823824"	"1"	"70"	"10"	"95372903"	"95372903"	"subst"	"0"	"00000"	"PDE6C_000094"	"g.95372903G>C"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[421G>C];[939+2T>C]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93613146G>C"	""	"likely pathogenic"	""
"0000823825"	"2"	"70"	"10"	"95385408"	"95385408"	"subst"	"4.0701E-6"	"00000"	"PDE6C_000096"	"g.95385408T>C"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[421G>C];[939+2T>C]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93625651T>C"	""	"likely pathogenic"	""
"0000823826"	"0"	"70"	"10"	"95380662"	"95380662"	"subst"	"0"	"00000"	"PDE6C_000095"	"g.95380662C>G"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.648C>G(;)1114T>C"	"heterozygous; protein change not reported"	"Unknown"	"?"	""	"0"	""	""	"g.93620905C>G"	""	"likely pathogenic"	""
"0000823827"	"0"	"70"	"10"	"95389057"	"95389057"	"subst"	"4.06283E-6"	"00000"	"PDE6C_000097"	"g.95389057T>C"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.648C>G(;)1114T>C"	"heterozygous; protein change not reported"	"Unknown"	"?"	""	"0"	""	""	"g.93629300T>C"	""	"likely pathogenic"	""
"0000823828"	"0"	"70"	"10"	"95386462"	"95386462"	"subst"	"0"	"00000"	"PDE6C_000070"	"g.95386462G>A"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.1004+1G>A(;)1771G>A"	"heterozygous; protein change not reported"	"Unknown"	"?"	""	"0"	""	""	"g.93626705G>A"	""	"likely pathogenic"	""
"0000823829"	"0"	"70"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"00000"	"PDE6C_000049"	"g.95400710G>A"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.1004+1G>A(;)1771G>A"	"heterozygous; protein change not reported"	"Unknown"	"?"	""	"0"	""	""	"g.93640953G>A"	""	"likely pathogenic"	""
"0000823830"	"1"	"70"	"10"	"95400716"	"95400716"	"subst"	"0"	"00000"	"PDE6C_000098"	"g.95400716T>C"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[1777T>C];[2159C>T]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93640959T>C"	""	"likely pathogenic"	""
"0000823831"	"2"	"70"	"10"	"95418875"	"95418875"	"subst"	"2.03719E-5"	"00000"	"PDE6C_000100"	"g.95418875C>T"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[1777T>C];[2159C>T]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93659118C>T"	""	"likely pathogenic"	""
"0000823832"	"1"	"70"	"10"	"95418872"	"95418872"	"subst"	"0"	"00000"	"PDE6C_000099"	"g.95418872T>C"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.[2156T>C];[2156T>C]"	"homozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.93659115T>C"	""	"likely pathogenic"	""
"0000823833"	"0"	"70"	"10"	"95422397"	"95422785"	"del"	"0"	"00000"	"PDE6C_000101"	"g.95422397_95422785del"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.2364_2368del(;)2377C>T"	"heterozygous; protein change not reported"	"Unknown"	"?"	""	"0"	""	""	"g.93662640_93663028del"	""	"likely pathogenic"	""
"0000823834"	"0"	"70"	"10"	"95422794"	"95422794"	"subst"	"4.07707E-6"	"00000"	"PDE6C_000102"	"g.95422794C>T"	""	"{PMID:Sun 2020:32913385}"	""	"PDE6C c.2364_2368del(;)2377C>T"	"homozygous; protein change not reported"	"Unknown"	"?"	""	"0"	""	""	"g.93663037C>T"	""	"likely pathogenic"	""
"0000826488"	"3"	"50"	"10"	"95415598"	"95415598"	"subst"	"4.06693E-6"	"00000"	"PDE6C_000065"	"g.95415598G>T"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.2017G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000826489"	"3"	"50"	"10"	"95415598"	"95415598"	"subst"	"4.06693E-6"	"00000"	"PDE6C_000065"	"g.95415598G>T"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.2017G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000832732"	"0"	"70"	"10"	"95381822"	"95381822"	"del"	"0"	"00000"	"PDE6C_000063"	"g.95381822del"	""	"{PMID:Matet 2018:29618791}"	""	"PDE6C c.857del, (p.Lys286fs*16)"	""	"Unknown"	"?"	""	"0"	""	""	"g.93622065del"	""	"likely pathogenic"	""
"0000832748"	"0"	"70"	"10"	"95381822"	"95381822"	"del"	"0"	"00000"	"PDE6C_000063"	"g.95381822del"	""	"{PMID:Matet 2018:29618791}"	""	"PDE6C c.857del, (p.Lys286fs*16)"	""	"Unknown"	"?"	""	"0"	""	""	"g.93622065del"	""	"likely pathogenic"	""
"0000862088"	"0"	"30"	"10"	"95395316"	"95395316"	"subst"	"2.43791E-5"	"01943"	"PDE6C_000103"	"g.95395316G>A"	""	""	""	"PDE6C(NM_006204.3):c.1332G>A (p.K444=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862089"	"0"	"30"	"10"	"95399905"	"95399905"	"subst"	"2.43789E-5"	"02330"	"PDE6C_000104"	"g.95399905T>C"	""	""	""	"PDE6C(NM_006204.4):c.1561T>C (p.L521=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862090"	"0"	"30"	"10"	"95418651"	"95418651"	"subst"	"0.00235951"	"02330"	"PDE6C_000020"	"g.95418651T>C"	""	""	""	"PDE6C(NM_006204.3):c.2037-7T>C, PDE6C(NM_006204.4):c.2037-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000876977"	"3"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.85C>T, p.R29W"	"homozyzgous"	"Germline"	"yes"	""	"0"	""	""	"g.93612810C>T"	""	"likely pathogenic"	""
"0000876978"	"3"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.85C>T, p.R29W"	"homozyzgous"	"Germline"	"yes"	""	"0"	""	""	"g.93612810C>T"	""	"likely pathogenic"	""
"0000876979"	"3"	"70"	"10"	"95386424"	"95386424"	"subst"	"0"	"00000"	"PDE6C_000117"	"g.95386424T>A"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.967T>A, p.Y323N"	"homozyzgous"	"Germline"	"yes"	""	"0"	""	""	"g.93626667T>A"	""	"likely pathogenic"	""
"0000876980"	"3"	"70"	"10"	"95386424"	"95386424"	"subst"	"0"	"00000"	"PDE6C_000117"	"g.95386424T>A"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.967T>A, p.Y323N"	"homozyzgous"	"Germline"	"yes"	""	"0"	""	""	"g.93626667T>A"	""	"likely pathogenic"	""
"0000876981"	"0"	"70"	"10"	"95372738"	"95372739"	"dup"	"0"	"00000"	"PDE6C_000108"	"g.95372738_95372739dup"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.257_258 dupAG, p.L87GfsX57"	"error in annotation, this mutation is actually c.256_257dup; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93612981_93612982dup"	""	"likely pathogenic"	""
"0000876982"	"1"	"70"	"10"	"95380541"	"95380541"	"subst"	"0"	"00000"	"PDE6C_000113"	"g.95380541G>C"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.633G>C, p.E211D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93620784G>C"	""	"likely pathogenic"	""
"0000876983"	"1"	"70"	"10"	"95380541"	"95380541"	"subst"	"0"	"00000"	"PDE6C_000113"	"g.95380541G>C"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.633G>C, p.E211D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93620784G>C"	""	"likely pathogenic"	""
"0000876984"	"0"	"70"	"10"	"95422401"	"95422405"	"del"	"0"	"00000"	"PDE6C_000130"	"g.95422401_95422405del"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.2367+1delGTAAG, p.E790SfsX12"	"error in annotation, this mutation is actually c.2367+1_2367+5del; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93662644_93662648del"	""	"likely pathogenic"	""
"0000876985"	"2"	"70"	"10"	"95395347"	"95395347"	"subst"	"0"	"00000"	"PDE6C_000120"	"g.95395347A>G"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.1363A>G, p.M455V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93635590A>G"	""	"likely pathogenic"	""
"0000876986"	"2"	"70"	"10"	"95395347"	"95395347"	"subst"	"0"	"00000"	"PDE6C_000120"	"g.95395347A>G"	""	"{PMID:Thiadens 2009:19615668}"	""	"PDE6C c.1363A>G, p.M455V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93635590A>G"	""	"likely pathogenic"	""
"0000877046"	"21"	"70"	"10"	"95380377"	"95380377"	"subst"	"0"	"00000"	"PDE6C_000111"	"g.95380377T>A"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.481-12T>A; p.Asn161fsX169 (activates a cryptic splice site 10 nucleotides upstream of the genuine 3  splice acceptor site)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93620620T>A"	""	"likely pathogenic"	""
"0000877047"	"21"	"70"	"10"	"95380377"	"95380377"	"subst"	"0"	"00000"	"PDE6C_000111"	"g.95380377T>A"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.481-12T>A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93620620T>A"	""	"likely pathogenic"	""
"0000877048"	"11"	"70"	"10"	"95400744"	"95400744"	"subst"	"0"	"00000"	"PDE6C_000126"	"g.95400744A>T"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.1805A>T, p.His602Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640987A>T"	""	"likely pathogenic"	""
"0000877049"	"11"	"70"	"10"	"95400744"	"95400744"	"subst"	"0"	"00000"	"PDE6C_000126"	"g.95400744A>T"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.1805A>T, p.His602Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640987A>T"	""	"likely pathogenic"	""
"0000877050"	"11"	"70"	"10"	"95381791"	"95381791"	"subst"	"8.12532E-6"	"00000"	"PDE6C_000114"	"g.95381791C>T"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.826C>T, p.Arg276X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93622034C>T"	""	"likely pathogenic"	""
"0000877051"	"3"	"70"	"10"	"95400259"	"95400259"	"dup"	"0"	"00000"	"PDE6C_000125"	"g.95400259dup"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.1682>83insA, p.Tyr561X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640502dup"	""	"likely pathogenic"	""
"0000877052"	"11"	"70"	"10"	"95399825"	"95399825"	"subst"	"0"	"00000"	"PDE6C_000121"	"g.95399825A>G"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.1483-2A>G; p.495 543del49 (complete deletion of exon 12)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640068A>G"	""	"likely pathogenic"	""
"0000877053"	"11"	"70"	"10"	"95399825"	"95399825"	"subst"	"0"	"00000"	"PDE6C_000121"	"g.95399825A>G"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.1483-2A>G; p.495 543del49 (complete deletion of exon 12)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640068A>G"	""	"likely pathogenic"	""
"0000877054"	"21"	"70"	"10"	"95422785"	"95422785"	"subst"	"0"	"00000"	"PDE6C_000131"	"g.95422785G>A"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.2368G A, p.Glu790Lys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93663028G>A"	""	"likely pathogenic"	""
"0000877055"	"21"	"70"	"10"	"95422785"	"95422785"	"subst"	"0"	"00000"	"PDE6C_000131"	"g.95422785G>A"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.2368G A, p.Glu790Lys, p.Glu790fsX17"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93663028G>A"	""	"likely pathogenic"	""
"0000877056"	"21"	"70"	"10"	"95422874"	"95422874"	"subst"	"0"	"00000"	"PDE6C_000132"	"g.95422874T>A"	""	"{PMID:Chang 2009:19887631}"	""	"PDE6C c.2457T>A, p.Tyr819X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93663117T>A"	""	"likely pathogenic"	""
"0000877058"	"1"	"90"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Grau 2011:21127010}, {PMID:Andersen 2023:36980963}"	""	""	"ACMG PS4, PS3, PM2_sup, PM3; only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93612810C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000877059"	"3"	"70"	"10"	"95394567"	"95394567"	"subst"	"0"	"00000"	"PDE6C_000118"	"g.95394567C>T"	""	"{PMID:Grau 2011:21127010}"	""	"PDE6C c.1172C>T, p.P391L"	"only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93634810C>T"	""	"likely pathogenic"	""
"0000877060"	"3"	"70"	"10"	"95394567"	"95394567"	"subst"	"0"	"00000"	"PDE6C_000118"	"g.95394567C>T"	""	"{PMID:Grau 2011:21127010}"	""	"PDE6C c.1172C>T, p.P391L"	"only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93634810C>T"	""	"likely pathogenic"	""
"0000877061"	"3"	"70"	"10"	"95394567"	"95394567"	"subst"	"0"	"00000"	"PDE6C_000118"	"g.95394567C>T"	""	"{PMID:Grau 2011:21127010}"	""	"PDE6C c.1172C>T, p.P391L"	"only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93634810C>T"	""	"likely pathogenic"	""
"0000877062"	"3"	"70"	"10"	"95372792"	"95372792"	"subst"	"1.22554E-5"	"00000"	"PDE6C_000109"	"g.95372792C>T"	""	"{PMID:Grau 2011:21127010}"	""	"PDE6C c.310C>T, p.R104W"	"only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93613035C>T"	""	"likely pathogenic"	""
"0000877063"	"3"	"70"	"10"	"95372792"	"95372792"	"subst"	"1.22554E-5"	"00000"	"PDE6C_000109"	"g.95372792C>T"	""	"{PMID:Grau 2011:21127010}"	""	"PDE6C c.310C>T, p.R104W"	"only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93613035C>T"	""	"likely pathogenic"	""
"0000877064"	"2"	"70"	"10"	"95418766"	"95418766"	"subst"	"0"	"00000"	"PDE6C_000105"	"g.95418766G>A"	""	"{PMID:Grau 2011:21127010}, {PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1_strong, PM2_sup; PS4_sup"	"Germline"	"yes"	""	"0"	""	""	"g.93659009G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000877071"	"3"	"70"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"00000"	"PDE6C_000049"	"g.95400710G>A"	""	"{PMID:Katagiri 2015:25605338}"	""	"PDE6C c.1771G>A, p.E591K"	"homozygous; also OPN1SW mutation (p.G79R) inherited from the father, who had normal colour vision"	"Germline"	"yes"	""	"0"	""	""	"g.93640953G>A"	""	"likely pathogenic"	""
"0000877072"	"3"	"70"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"00000"	"PDE6C_000049"	"g.95400710G>A"	""	"{PMID:Katagiri 2015:25605338}"	""	"PDE6C c.1771G>A, p.E591K"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640953G>A"	""	"likely pathogenic"	""
"0000877078"	"3"	"50"	"10"	"95385411"	"95385411"	"subst"	"8.14783E-6"	"00000"	"PDE6C_000027"	"g.95385411G>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.939+5G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93625654G>A"	""	"VUS"	"ACMG"
"0000877079"	"3"	"50"	"10"	"95385411"	"95385411"	"subst"	"8.14783E-6"	"00000"	"PDE6C_000027"	"g.95385411G>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.939+5G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93625654G>A"	""	"VUS"	"ACMG"
"0000877080"	"1"	"50"	"10"	"95418872"	"95418872"	"subst"	"0"	"00000"	"PDE6C_000099"	"g.95418872T>C"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2156T>C/p.M719T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93659115T>C"	""	"VUS"	"ACMG"
"0000877081"	"3"	"70"	"10"	"95399923"	"95399923"	"subst"	"4.47027E-5"	"00000"	"PDE6C_000122"	"g.95399923C>T"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.1579C>T/p.R527*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640166C>T"	""	"likely pathogenic"	"ACMG"
"0000877082"	"1"	"50"	"10"	"95421853"	"95421853"	"subst"	"0"	"00000"	"PDE6C_000127"	"g.95421853G>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2246G>A/p.G749E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93662096G>A"	""	"VUS"	"ACMG"
"0000877083"	"3"	"50"	"10"	"95418762"	"95418762"	"subst"	"4.07319E-6"	"00000"	"PDE6C_000093"	"g.95418762T>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2141T>A/p.I714N"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93659005T>A"	""	"VUS"	"ACMG"
"0000877084"	"3"	"50"	"10"	"95418762"	"95418762"	"subst"	"4.07319E-6"	"00000"	"PDE6C_000093"	"g.95418762T>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2141T>A/p.I714N"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93659005T>A"	""	"VUS"	"ACMG"
"0000877085"	"3"	"90"	"10"	"95394665"	"95394665"	"subst"	"0"	"00000"	"PDE6C_000119"	"g.95394665G>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.1269+1G>A"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93634908G>A"	""	"pathogenic"	"ACMG"
"0000877086"	"0"	"70"	"10"	"95372560"	"95372560"	"del"	"0"	"00000"	"PDE6C_000106"	"g.95372560del"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.78del/p.K27Sfs*27"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93612803del"	""	"likely pathogenic"	"ACMG"
"0000877087"	"3"	"50"	"10"	"95372786"	"95372786"	"subst"	"0"	"00000"	"PDE6C_000084"	"g.95372786C>T"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.304C>T/p.R102W"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93613029C>T"	""	"VUS"	"ACMG"
"0000877088"	"0"	"70"	"10"	"95372693"	"95372693"	"subst"	"8.12929E-6"	"00000"	"PDE6C_000107"	"g.95372693G>T"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.211G>T/p.E71*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93612936G>T"	""	"likely pathogenic"	"ACMG"
"0000877089"	"0"	"70"	"10"	"95380405"	"95380405"	"del"	"0"	"00000"	"PDE6C_000112"	"g.95380405del"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.497del/p.D166Afs*28"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93620648del"	""	"likely pathogenic"	"ACMG"
"0000877090"	"3"	"50"	"10"	"95418762"	"95418762"	"subst"	"4.07319E-6"	"00000"	"PDE6C_000093"	"g.95418762T>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2141T>A/p.I714N"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93659005T>A"	""	"VUS"	"ACMG"
"0000877091"	"3"	"70"	"10"	"95381822"	"95381822"	"del"	"0"	"00000"	"PDE6C_000063"	"g.95381822del"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.857del/p.K286Rfs*16"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93622065del"	""	"likely pathogenic"	"ACMG"
"0000877092"	"3"	"90"	"10"	"95386462"	"95386462"	"subst"	"0"	"00000"	"PDE6C_000070"	"g.95386462G>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.1004+1G>A"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93626705G>A"	""	"pathogenic"	"ACMG"
"0000877093"	"2"	"90"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00000"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.85C>T/p.R29W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93612810C>T"	""	"pathogenic"	"ACMG"
"0000877094"	"2"	"50"	"10"	"95422321"	"95422321"	"subst"	"0"	"00000"	"PDE6C_000128"	"g.95422321T>C"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2288T>C/p.M763T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93662564T>C"	""	"VUS"	"ACMG"
"0000877095"	"2"	"50"	"10"	"95422327"	"95422327"	"subst"	"0"	"00000"	"PDE6C_000129"	"g.95422327A>G"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.2294A>G/p.D765G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93662570A>G"	""	"VUS"	"ACMG"
"0000877096"	"0"	"70"	"10"	"95381740"	"95381740"	"subst"	"8.12493E-6"	"00000"	"PDE6C_000026"	"g.95381740C>T"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.775C>T/p.R259*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93621983C>T"	""	"likely pathogenic"	"ACMG"
"0000877097"	"0"	"70"	"10"	"95399923"	"95399923"	"subst"	"4.47027E-5"	"00000"	"PDE6C_000122"	"g.95399923C>T"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.1579C>T/p.R527*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93640166C>T"	""	"likely pathogenic"	"ACMG"
"0000877098"	"0"	"50"	"10"	"95400214"	"95400214"	"subst"	"0"	"00000"	"PDE6C_000123"	"g.95400214C>A"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.1637C>A/p.T546N"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93640457C>A"	""	"VUS"	"ACMG"
"0000877099"	"1"	"70"	"10"	"95381801"	"95381801"	"subst"	"1.6251E-5"	"00000"	"PDE6C_000115"	"g.95381801T>C"	""	"{PMID:Weisschuh 2018:30080950}"	""	"PDE6C c.836T>C/p.I279T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93622044T>C"	""	"likely pathogenic"	"ACMG"
"0000877147"	"3"	"70"	"10"	"95400247"	"95400247"	"subst"	"8.12374E-5"	"00000"	"PDE6C_000124"	"g.95400247G>A"	""	"{PMID:Domingo-Prim 2019:31520890}"	""	"PDE6C.1670G > A (p.Arg557Gln)"	"establishing a pluripotent cell line from patient\'s cells; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640490G>A"	""	"likely pathogenic"	""
"0000877149"	"0"	"90"	"10"	"95381830"	"95381830"	"subst"	"0"	"00000"	"PDE6C_000060"	"g.95381830G>A"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.864+1G>A, Splicing Defect"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93622073G>A"	""	"pathogenic"	"ACMG"
"0000877150"	"3"	"90"	"10"	"95381830"	"95381830"	"subst"	"0"	"00000"	"PDE6C_000060"	"g.95381830G>A"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.864+1G>A, Splicing Defect"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93622073G>A"	""	"pathogenic"	"ACMG"
"0000877151"	"3"	"90"	"10"	"95380539"	"95380539"	"subst"	"0"	"00000"	"PDE6C_000059"	"g.95380539G>T"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.631G>T, p.Glu211Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93620782G>T"	""	"pathogenic"	"ACMG"
"0000877152"	"0"	"50"	"10"	"95385360"	"95385360"	"subst"	"0"	"00000"	"PDE6C_000116"	"g.95385360T>A"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.893T>A, p.Leu298His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93625603T>A"	""	"VUS"	"ACMG"
"0000877153"	"3"	"90"	"10"	"95422920"	"95422920"	"subst"	"0"	"00000"	"PDE6C_000133"	"g.95422920G>T"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.2503G>T, p.Gly835Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93663163G>T"	""	"pathogenic"	"ACMG"
"0000877154"	"3"	"50"	"10"	"95400223"	"95400223"	"subst"	"8.12486E-6"	"00000"	"PDE6C_000081"	"g.95400223T>C"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.1646T>C, p.Met549Thr"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93640466T>C"	""	"VUS"	"ACMG"
"0000877155"	"0"	"50"	"10"	"95380503"	"95380503"	"subst"	"0"	"00000"	"PDE6C_000058"	"g.95380503A>G"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.595A>G, p.Lys199Glu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93620746A>G"	""	"VUS"	"ACMG"
"0000877156"	"0"	"50"	"10"	"95372793"	"95372793"	"subst"	"1.63421E-5"	"00000"	"PDE6C_000062"	"g.95372793G>A"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.311G>A, p.Arg104Gln"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93613036G>A"	""	"VUS"	"ACMG"
"0000877157"	"0"	"50"	"10"	"95372808"	"95372808"	"subst"	"0"	"00000"	"PDE6C_000110"	"g.95372808A>T"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.326A>T, p.Glu109Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93613051A>T"	""	"VUS"	"ACMG"
"0000877158"	"0"	"50"	"10"	"95400789"	"95400792"	"del"	"0"	"00000"	"PDE6C_000092"	"g.95400789_95400792del"	""	"{PMID:Georgiou 2019:31826238}"	""	"PDE6C c.1847+3_1847+6delAAGT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.93641032_93641035del"	""	"VUS"	"ACMG"
"0000881434"	"1"	"50"	"10"	"95395323"	"95395323"	"subst"	"0.000219375"	"04405"	"PDE6C_000038"	"g.95395323A>G"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93635566A>G"	""	"VUS"	"ACMG"
"0000881435"	"1"	"50"	"10"	"95381792"	"95381792"	"subst"	"1.62512E-5"	"04405"	"PDE6C_000079"	"g.95381792G>A"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93622035G>A"	""	"VUS"	"ACMG"
"0000881461"	"2"	"50"	"10"	"95418703"	"95418703"	"subst"	"0.00186819"	"04405"	"PDE6C_000044"	"g.95418703G>A"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93658946G>A"	""	"VUS"	"ACMG"
"0000881462"	"2"	"50"	"10"	"95396810"	"95396812"	"dup"	"0"	"04405"	"PDE6C_000134"	"g.95396810_95396812dup"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93637053_93637055dup"	""	"VUS"	"ACMG"
"0000889331"	"0"	"30"	"10"	"95372701"	"95372701"	"subst"	"0.000122016"	"02330"	"PDE6C_000135"	"g.95372701G>T"	""	""	""	"PDE6C(NM_006204.4):c.219G>T (p.G73=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889332"	"0"	"30"	"10"	"95394607"	"95394607"	"subst"	"8.13008E-6"	"02330"	"PDE6C_000136"	"g.95394607A>C"	""	""	""	"PDE6C(NM_006204.4):c.1212A>C (p.T404=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889333"	"0"	"30"	"10"	"95418891"	"95418891"	"subst"	"4.07176E-6"	"02330"	"PDE6C_000137"	"g.95418891T>C"	""	""	""	"PDE6C(NM_006204.4):c.2175T>C (p.S725=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000900614"	"11"	"70"	"10"	"95395398"	"95395398"	"subst"	"0"	"00000"	"PDE6C_000141"	"g.95395398G>C"	""	"{PMID:Yuan 2020:32787476}"	""	"PDE6C c.1413 + 1 G > C"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93635641G>C"	""	"likely pathogenic"	"ACMG"
"0000900615"	"11"	"70"	"10"	"95395398"	"95395398"	"subst"	"0"	"00000"	"PDE6C_000141"	"g.95395398G>C"	""	"{PMID:Yuan 2020:32787476}"	""	"PDE6C c.1413 + 1 G > C"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93635641G>C"	""	"likely pathogenic"	"ACMG"
"0000900616"	"11"	"70"	"10"	"95395398"	"95395398"	"subst"	"0"	"00000"	"PDE6C_000141"	"g.95395398G>C"	""	"{PMID:Yuan 2020:32787476}"	""	"PDE6C c.1413 + 1 G > C"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93635641G>C"	""	"likely pathogenic"	"ACMG"
"0000900617"	"21"	"70"	"10"	"95372787"	"95372787"	"subst"	"0"	"00000"	"PDE6C_000138"	"g.95372787G>A"	""	"{PMID:Yuan 2020:32787476}"	""	"PDE6C c.305 G > A"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93613030G>A"	""	"likely pathogenic"	"ACMG"
"0000900618"	"21"	"70"	"10"	"95372787"	"95372787"	"subst"	"0"	"00000"	"PDE6C_000138"	"g.95372787G>A"	""	"{PMID:Yuan 2020:32787476}"	""	"PDE6C c.305 G > A"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93613030G>A"	""	"likely pathogenic"	"ACMG"
"0000900619"	"21"	"70"	"10"	"95372787"	"95372787"	"subst"	"0"	"00000"	"PDE6C_000138"	"g.95372787G>A"	""	"{PMID:Yuan 2020:32787476}"	""	"PDE6C c.305 G > A"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93613030G>A"	""	"likely pathogenic"	"ACMG"
"0000900620"	"3"	"70"	"10"	"95400714"	"95400714"	"subst"	"0"	"00000"	"PDE6C_000143"	"g.95400714C>A"	""	"{PMID:AtaBusheheri 2020:32306724}"	""	"PDE6C c.C1775A:p.A592D"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93640957C>A"	""	"likely pathogenic"	"ACMG"
"0000900621"	"3"	"70"	"10"	"95400714"	"95400714"	"subst"	"0"	"00000"	"PDE6C_000143"	"g.95400714C>A"	""	"{PMID:AtaBusheheri 2020:32306724}"	""	"PDE6C c.C1775A:p.A592D"	"heterozygous, confirmed on mRNA level"	"Germline"	"yes"	""	"0"	""	""	"g.93640957C>A"	""	"likely pathogenic"	"ACMG"
"0000900622"	"11"	"90"	"10"	"95399923"	"95399923"	"subst"	"4.47027E-5"	"00000"	"PDE6C_000122"	"g.95399923C>T"	""	"{PMID:Varela 2020:33001157}"	""	"PDE6C c.1579C>T, p.(Arg527*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640166C>T"	""	"pathogenic"	"ACMG"
"0000900623"	"3"	"50"	"10"	"95422794"	"95422794"	"subst"	"4.07707E-6"	"00000"	"PDE6C_000102"	"g.95422794C>T"	""	"{PMID:Varela 2020:33001157}"	""	"PDE6C c.2377C>T, p.(Arg793Trp)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93663037C>T"	""	"VUS"	"ACMG"
"0000900624"	"3"	"50"	"10"	"95400229"	"95400229"	"subst"	"4.06273E-6"	"00000"	"PDE6C_000142"	"g.95400229C>T"	""	"{PMID:Varela 2020:33001157}"	""	"PDE6C c.1652C>T, p.(Thr551Ile)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640472C>T"	""	"VUS"	"ACMG"
"0000900625"	"3"	"50"	"10"	"95395291"	"95395291"	"subst"	"2.84481E-5"	"00000"	"PDE6C_000140"	"g.95395291C>G"	""	"{PMID:Varela 2020:33001157}"	""	"PDE6C c.1307C>G, p.(Thr436Ser)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93635534C>G"	""	"VUS"	"ACMG"
"0000900626"	"21"	"90"	"10"	"95385408"	"95385408"	"subst"	"8.14021E-6"	"00000"	"PDE6C_000139"	"g.95385408T>G"	""	"{PMID:Varela 2020:33001157}"	""	"PDE6C c.939+2T>G, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93625651T>G"	""	"pathogenic"	"ACMG"
"0000900628"	"3"	"90"	"10"	"95400247"	"95400247"	"subst"	"8.12374E-5"	"00000"	"PDE6C_000124"	"g.95400247G>A"	""	"{PMID:Madeira 2021:34720973}"	""	"PDE6C c.1670G>A, p.(Arg557Gln)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640490G>A"	""	"pathogenic"	"ACMG"
"0000900629"	"3"	"90"	"10"	"95400247"	"95400247"	"subst"	"8.12374E-5"	"00000"	"PDE6C_000124"	"g.95400247G>A"	""	"{PMID:Madeira 2021:34720973}"	""	"PDE6C c.1670G>A, p.(Arg557Gln)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640490G>A"	""	"pathogenic"	"ACMG"
"0000900630"	"1"	"90"	"10"	"95400247"	"95400247"	"subst"	"8.12374E-5"	"00000"	"PDE6C_000124"	"g.95400247G>A"	""	"{PMID:Madeira 2021:34720973}"	""	"PDE6C c.1670G>A, p.(Arg557Gln)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640490G>A"	""	"pathogenic"	"ACMG"
"0000900631"	"3"	"90"	"10"	"95400247"	"95400247"	"subst"	"8.12374E-5"	"00000"	"PDE6C_000124"	"g.95400247G>A"	""	"{PMID:Madeira 2021:34720973}"	""	"PDE6C c.1670G>A, p.(Arg557Gln)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93640490G>A"	""	"pathogenic"	"ACMG"
"0000900632"	"2"	"90"	"10"	"95418908"	"95418908"	"subst"	"0"	"00000"	"PDE6C_000144"	"g.95418908G>A"	""	"{PMID:Madeira 2021:34720973}"	""	"PDE6C c.2192G>A, p.(Trp731*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.93659151G>A"	""	"pathogenic"	"ACMG"
"0000929733"	"0"	"90"	"10"	"95394596"	"95394605"	"del"	"0"	"02330"	"PDE6C_000145"	"g.95394596_95394605del"	""	""	""	"PDE6C(NM_006204.4):c.1201_1210delGGAGTGGCTA (p.G401Hfs*31)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000929734"	"0"	"90"	"10"	"95400665"	"95400677"	"del"	"0"	"02330"	"PDE6C_000146"	"g.95400665_95400677del"	""	""	""	"PDE6C(NM_006204.4):c.1738-12_1738delTTATTTTTTTAGA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000933602"	"0"	"90"	"10"	"95372703"	"95372703"	"del"	"0"	"04552"	"PDE6C_000147"	"g.95372703del"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.93612946del"	"{CV:1995570}"	"pathogenic"	"ACMG"
"0000954063"	"21"	"90"	"10"	"95400710"	"95400710"	"subst"	"8.13425E-6"	"00006"	"PDE6C_000049"	"g.95400710G>A"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93640953G>A"	""	"pathogenic"	""
"0000954064"	"21"	"90"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00006"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93612810C>T"	""	"pathogenic"	""
"0000954085"	"11"	"90"	"10"	"95421876"	"95421876"	"subst"	"0"	"00006"	"PDE6C_000149"	"g.95421876C>T"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93662119C>T"	""	"pathogenic"	""
"0000954086"	"11"	"90"	"10"	"95380726"	"95380726"	"subst"	"8.12526E-6"	"00006"	"PDE6C_000148"	"g.95380726C>T"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93620969C>T"	""	"pathogenic"	""
"0000958827"	"3"	"50"	"10"	"95381717"	"95381717"	"subst"	"0"	"00006"	"PDE6C_000033"	"g.95381717T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.93621960T>C"	""	"VUS"	"ACMG"
"0000958828"	"3"	"50"	"10"	"95386633"	"95386633"	"subst"	"0"	"00006"	"PDE6C_000150"	"g.95386633G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2"	"Germline"	""	""	"0"	""	""	"g.93626876G>A"	""	"VUS"	"ACMG"
"0000965950"	"0"	"50"	"10"	"95400285"	"95400285"	"subst"	"4.06174E-6"	"02327"	"PDE6C_000151"	"g.95400285G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000986489"	"3"	"70"	"10"	"95418922"	"95418922"	"subst"	"0"	"04405"	"PDE6C_000152"	"g.95418922C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.93659165C>T"	""	"likely pathogenic"	"ACMG"
"0000987312"	"0"	"70"	"10"	"95372567"	"95372567"	"subst"	"1.62434E-5"	"00006"	"PDE6C_000078"	"g.95372567C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"no variant 2nd chromosome, case unsolved"	"Germline"	""	""	"0"	""	""	"g.93612810C>T"	""	"likely pathogenic"	"ACMG"
"0001010302"	"3"	"90"	"10"	"95415515"	"95415515"	"subst"	"0"	"04752"	"PDE6C_000155"	"g.95415515A>G"	""	"{PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1, PM3_sup, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.93655758A>G"	""	"pathogenic (recessive)"	"ACMG"
"0001010303"	"1"	"50"	"10"	"95372779"	"95372779"	"subst"	"0"	"04752"	"PDE6C_000153"	"g.95372779C>G"	""	"{PMID:Andersen 2023:36980963}"	""	""	"ACMG PM2_sup"	"Germline"	""	""	"0"	""	""	"g.93613022C>G"	""	"VUS"	"ACMG"
"0001010304"	"1"	"50"	"10"	"95372779"	"95372779"	"subst"	"0"	"04752"	"PDE6C_000153"	"g.95372779C>G"	""	"{PMID:Andersen 2023:36980963}"	""	""	"ACMG PM2_sup"	"Germline"	""	""	"0"	""	""	"g.93613022C>G"	""	"VUS"	"ACMG"
"0001010305"	"3"	"90"	"10"	"95386633"	"95386633"	"subst"	"0"	"04752"	"PDE6C_000150"	"g.95386633G>A"	""	"{PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1, PM2_sup, PM3_sup"	"Germline"	""	""	"0"	""	""	"g.93626876G>A"	""	"pathogenic (recessive)"	"ACMG"
"0001010337"	"2"	"70"	"10"	"95385411"	"95385411"	"subst"	"0"	"04752"	"PDE6C_000154"	"g.95385411G>T"	""	"{PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1_strong, PM5, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.93625654G>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001010338"	"2"	"70"	"10"	"95385411"	"95385411"	"subst"	"0"	"04752"	"PDE6C_000154"	"g.95385411G>T"	""	"{PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1_strong, PM5, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.93625654G>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001014699"	"0"	"70"	"10"	"95372793"	"95372793"	"subst"	"1.63421E-5"	"02327"	"PDE6C_000062"	"g.95372793G>A"	""	""	""	"PDE6C(NM_006204.4):c.311G>A (p.R104Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001022305"	"3"	"90"	"10"	"95422337"	"95422338"	"del"	"0"	"00006"	"PDE6C_000160"	"g.95422337_95422338del"	""	"{PMID:Midgley 2024:39676705}"	""	"2304_2305delAA"	""	"Germline"	""	"rs1236291370"	"0"	""	""	"g.93662580_93662581del"	""	"pathogenic"	""


## 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 PDE6C
## Count = 265
"{{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}}"
"0000246947"	"00015885"	"30"	"2501"	"0"	"2501"	"0"	"c.2501A>G"	"r.(?)"	"p.(Glu834Gly)"	""
"0000249149"	"00015885"	"10"	"1270"	"-7"	"1270"	"-7"	"c.1270-7A>G"	"r.(=)"	"p.(=)"	""
"0000255083"	"00015885"	"30"	"1029"	"0"	"1029"	"0"	"c.1029A>T"	"r.(?)"	"p.(Thr343=)"	""
"0000293622"	"00015885"	"10"	"1120"	"-6"	"1120"	"-6"	"c.1120-6T>C"	"r.(=)"	"p.(=)"	""
"0000293623"	"00015885"	"30"	"1755"	"0"	"1755"	"0"	"c.1755G>T"	"r.(?)"	"p.(Lys585Asn)"	""
"0000293624"	"00015885"	"30"	"1935"	"4"	"1935"	"4"	"c.1935+4C>T"	"r.spl?"	"p.?"	""
"0000293625"	"00015885"	"10"	"2145"	"-15"	"2145"	"-15"	"c.2145-15del"	"r.(=)"	"p.(=)"	""
"0000293626"	"00015885"	"50"	"2219"	"0"	"2219"	"0"	"c.2219T>C"	"r.(?)"	"p.(Met740Thr)"	""
"0000293627"	"00015885"	"10"	"2466"	"0"	"2466"	"0"	"c.2466G>A"	"r.(?)"	"p.(Lys822=)"	""
"0000293628"	"00015885"	"30"	"2477"	"0"	"2477"	"0"	"c.2477T>C"	"r.(?)"	"p.(Ile826Thr)"	""
"0000293629"	"00015885"	"10"	"252"	"0"	"252"	"0"	"c.252G>T"	"r.(?)"	"p.(Leu84=)"	""
"0000293630"	"00015885"	"30"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Ser)"	""
"0000293631"	"00015885"	"10"	"447"	"0"	"447"	"0"	"c.447G>A"	"r.(?)"	"p.(Thr149=)"	""
"0000293632"	"00015885"	"10"	"724"	"-15"	"724"	"-15"	"c.724-15G>T"	"r.(=)"	"p.(=)"	""
"0000293633"	"00015885"	"30"	"801"	"0"	"801"	"0"	"c.801G>A"	"r.(?)"	"p.(Thr267=)"	""
"0000296851"	"00015885"	"10"	"1098"	"0"	"1098"	"0"	"c.1098G>A"	"r.(?)"	"p.(Ala366=)"	""
"0000296852"	"00015885"	"10"	"1380"	"0"	"1380"	"0"	"c.1380C>G"	"r.(?)"	"p.(Thr460=)"	""
"0000296853"	"00015885"	"10"	"1935"	"10"	"1935"	"10"	"c.1935+10C>A"	"r.(=)"	"p.(=)"	""
"0000296854"	"00015885"	"10"	"252"	"0"	"252"	"0"	"c.252G>A"	"r.(?)"	"p.(Leu84=)"	""
"0000296855"	"00015885"	"10"	"808"	"0"	"808"	"0"	"c.808T>A"	"r.(?)"	"p.(Ser270Thr)"	""
"0000305365"	"00015885"	"30"	"1572"	"0"	"1572"	"0"	"c.1572T>C"	"r.(?)"	"p.(Cys524=)"	""
"0000305366"	"00015885"	"30"	"1755"	"0"	"1755"	"0"	"c.1755G>T"	"r.(?)"	"p.(Lys585Asn)"	""
"0000305367"	"00015885"	"30"	"2037"	"-7"	"2037"	"-7"	"c.2037-7T>C"	"r.(=)"	"p.(=)"	""
"0000305368"	"00015885"	"10"	"2466"	"0"	"2466"	"0"	"c.2466G>A"	"r.(?)"	"p.(Lys822=)"	""
"0000305369"	"00015885"	"30"	"2512"	"0"	"2512"	"0"	"c.2512G>A"	"r.(?)"	"p.(Glu838Lys)"	""
"0000305370"	"00015885"	"30"	"252"	"0"	"252"	"0"	"c.252G>T"	"r.(?)"	"p.(Leu84=)"	""
"0000305371"	"00015885"	"50"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Gly106Ser)"	""
"0000305372"	"00015885"	"30"	"634"	"-9"	"634"	"-9"	"c.634-9C>T"	"r.(=)"	"p.(=)"	""
"0000321684"	"00015885"	"50"	"400"	"0"	"400"	"0"	"c.400G>A"	"r.(?)"	"p.(Val134Ile)"	""
"0000338941"	"00015885"	"10"	"1270"	"-9"	"1270"	"-9"	"c.1270-9C>T"	"r.(=)"	"p.(=)"	""
"0000338942"	"00015885"	"10"	"1270"	"-7"	"1270"	"-7"	"c.1270-7A>G"	"r.(=)"	"p.(=)"	""
"0000338943"	"00015885"	"10"	"1935"	"10"	"1935"	"10"	"c.1935+10C>A"	"r.(=)"	"p.(=)"	""
"0000340582"	"00015885"	"10"	"252"	"0"	"252"	"0"	"c.252G>A"	"r.(?)"	"p.(Leu84=)"	""
"0000340583"	"00015885"	"10"	"282"	"0"	"282"	"0"	"c.282C>T"	"r.(?)"	"p.(Asp94=)"	""
"0000340584"	"00015885"	"10"	"1098"	"0"	"1098"	"0"	"c.1098G>A"	"r.(?)"	"p.(Ala366=)"	""
"0000340585"	"00015885"	"10"	"1380"	"0"	"1380"	"0"	"c.1380C>G"	"r.(?)"	"p.(Thr460=)"	""
"0000342446"	"00015885"	"90"	"775"	"0"	"775"	"0"	"c.775C>T"	"r.(?)"	"p.(Arg259Ter)"	""
"0000343100"	"00015885"	"90"	"1669"	"0"	"1669"	"0"	"c.1669C>T"	"r.(?)"	"p.(Arg557Ter)"	""
"0000343369"	"00015885"	"50"	"2378"	"0"	"2378"	"0"	"c.2378G>A"	"r.(?)"	"p.(Arg793Gln)"	""
"0000348894"	"00015885"	"10"	"808"	"0"	"808"	"0"	"c.808T>A"	"r.(?)"	"p.(Ser270Thr)"	""
"0000351470"	"00015885"	"50"	"939"	"5"	"939"	"5"	"c.939+5G>A"	"r.spl?"	"p.?"	""
"0000472273"	"00015885"	"50"	"752"	"0"	"752"	"0"	"c.752T>C"	"r.(?)"	"p.(Phe251Ser)"	""
"0000541657"	"00015885"	"10"	"203"	"0"	"203"	"0"	"c.203C>T"	"r.(?)"	"p.(Thr68Ile)"	""
"0000541658"	"00015885"	"50"	"398"	"0"	"400"	"0"	"c.398_400del"	"r.(?)"	"p.(Glu133del)"	""
"0000541659"	"00015885"	"30"	"1104"	"0"	"1104"	"0"	"c.1104A>G"	"r.(?)"	"p.(Glu368=)"	""
"0000541660"	"00015885"	"30"	"1270"	"-8"	"1270"	"-8"	"c.1270-8C>T"	"r.(=)"	"p.(=)"	""
"0000541661"	"00015885"	"30"	"1339"	"0"	"1339"	"0"	"c.1339A>G"	"r.(?)"	"p.(Asn447Asp)"	""
"0000541662"	"00015885"	"50"	"1339"	"0"	"1339"	"0"	"c.1339A>G"	"r.(?)"	"p.(Asn447Asp)"	""
"0000541663"	"00015885"	"50"	"1498"	"0"	"1498"	"0"	"c.1498G>T"	"r.(?)"	"p.(Asp500Tyr)"	""
"0000541664"	"00015885"	"10"	"1770"	"0"	"1770"	"0"	"c.1770C>T"	"r.(?)"	"p.(Leu590=)"	""
"0000541665"	"00015885"	"30"	"1854"	"0"	"1854"	"0"	"c.1854G>A"	"r.(?)"	"p.(Thr618=)"	""
"0000541666"	"00015885"	"30"	"1936"	"-9"	"1936"	"-9"	"c.1936-9A>G"	"r.(=)"	"p.(=)"	""
"0000541667"	"00015885"	"50"	"2072"	"0"	"2072"	"0"	"c.2072G>A"	"r.(?)"	"p.(Cys691Tyr)"	""
"0000541668"	"00015885"	"30"	"2082"	"0"	"2082"	"0"	"c.2082G>A"	"r.(?)"	"p.(Met694Ile)"	""
"0000541669"	"00015885"	"50"	"2082"	"0"	"2082"	"0"	"c.2082G>A"	"r.(?)"	"p.(Met694Ile)"	""
"0000541670"	"00015885"	"10"	"2144"	"15"	"2144"	"15"	"c.2144+15T>C"	"r.(=)"	"p.(=)"	""
"0000541671"	"00015885"	"10"	"2208"	"14"	"2208"	"14"	"c.2208+14A>C"	"r.(=)"	"p.(=)"	""
"0000541672"	"00015885"	"50"	"2219"	"0"	"2219"	"0"	"c.2219T>C"	"r.(?)"	"p.(Met740Thr)"	""
"0000541673"	"00015885"	"10"	"2425"	"0"	"2425"	"0"	"c.2425A>C"	"r.(?)"	"p.(Arg809=)"	""
"0000541674"	"00015885"	"30"	"2425"	"0"	"2425"	"0"	"c.2425A>C"	"r.(?)"	"p.(Arg809=)"	""
"0000541675"	"00015885"	"10"	"2481"	"0"	"2481"	"0"	"c.2481A>G"	"r.(?)"	"p.(Glu827=)"	""
"0000612817"	"00015885"	"30"	"864"	"13"	"864"	"13"	"c.864+13C>T"	"r.(=)"	"p.(=)"	""
"0000612818"	"00015885"	"30"	"1104"	"0"	"1104"	"0"	"c.1104A>G"	"r.(?)"	"p.(Glu368=)"	""
"0000612819"	"00015885"	"50"	"1259"	"0"	"1259"	"0"	"c.1259A>G"	"r.(?)"	"p.(Tyr420Cys)"	""
"0000612820"	"00015885"	"50"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	""
"0000612821"	"00015885"	"50"	"2389"	"0"	"2389"	"0"	"c.2389G>A"	"r.(?)"	"p.(Glu797Lys)"	""
"0000648033"	"00015885"	"30"	"1755"	"0"	"1755"	"0"	"c.1755G>T"	"r.(?)"	"p.(Lys585Asn)"	""
"0000656605"	"00015885"	"50"	"2501"	"0"	"2501"	"0"	"c.2501A>G"	"r.(?)"	"p.(Glu834Gly)"	""
"0000678961"	"00015885"	"50"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Ser)"	""
"0000684387"	"00015885"	"70"	"542"	"0"	"542"	"0"	"c.542del"	"r.(?)"	"p.(Ala181Glufs*13)"	"2"
"0000684406"	"00015885"	"70"	"1413"	"3"	"1413"	"3"	"c.1413+3A>T"	"r.spl?"	"p.?"	"10i"
"0000684407"	"00015885"	"70"	"1325"	"0"	"1325"	"0"	"c.1325T>A"	"r.(?)"	"p.(Met442Lys)"	"10"
"0000684431"	"00015885"	"70"	"1375"	"0"	"1375"	"0"	"c.1375C>G"	"r.(?)"	"p.(Gln459Glu)"	"10"
"0000684680"	"00015885"	"50"	"1643"	"0"	"1643"	"0"	"c.1643G>T"	"r.(?)"	"p.(Trp548Leu)"	""
"0000684710"	"00015885"	"70"	"2507"	"0"	"2507"	"0"	"c.2507del"	"r.(?)"	"p.(Gly836Glufs*21)"	""
"0000685351"	"00015885"	"70"	"490"	"0"	"490"	"0"	"c.490T>C"	"r.(?)"	"p.(Phe164Leu)"	""
"0000685352"	"00015885"	"70"	"1595"	"0"	"1595"	"0"	"c.1595T>G"	"r.(?)"	"p.(Ile532Arg)"	""
"0000690845"	"00015885"	"50"	"801"	"0"	"801"	"0"	"c.801G>A"	"r.(?)"	"p.(Thr267=)"	""
"0000713307"	"00015885"	"90"	"864"	"1"	"864"	"1"	"c.864+1G>A"	"r.spl?"	"p.?"	""
"0000713455"	"00015885"	"90"	"595"	"0"	"595"	"0"	"c.595A>G"	"r.(?)"	"p.(Lys199Glu)"	""
"0000713588"	"00015885"	"90"	"631"	"0"	"631"	"0"	"c.631G>T"	"r.(?)"	"p.(Glu211*)"	""
"0000713784"	"00015885"	"90"	"1846"	"0"	"1847"	"2"	"c.1846_1847+2del"	"r.spl?"	"p.?"	""
"0000723028"	"00015885"	"50"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0000723029"	"00015885"	"30"	"2386"	"0"	"2386"	"0"	"c.2386A>G"	"r.(?)"	"p.(Lys796Glu)"	""
"0000730326"	"00015885"	"90"	"857"	"0"	"857"	"0"	"c.857del"	"r.(?)"	"p.(Lys286Argfs*16)"	""
"0000731154"	"00015885"	"90"	"2428"	"0"	"2428"	"0"	"c.2428del"	"r.(?)"	"p.(Val810*)"	""
"0000731442"	"00015885"	"70"	"2017"	"0"	"2017"	"0"	"c.2017G>T"	"r.(?)"	"p.(Asp673Tyr)"	""
"0000732513"	"00015885"	"90"	"986"	"0"	"986"	"0"	"c.986A>C"	"r.(?)"	"p.(Glu329Ala)"	""
"0000735829"	"00015885"	"70"	"1574"	"0"	"1574"	"0"	"c.1574G>T"	"r.(?)"	"p.(Gly525Val)"	""
"0000760152"	"00015885"	"50"	"1892"	"0"	"1892"	"0"	"c.1892A>G"	"r.(?)"	"p.(Glu631Gly)"	""
"0000760422"	"00015885"	"50"	"1894"	"0"	"1894"	"0"	"c.1894A>T"	"r.(?)"	"p.(Arg632Trp)"	""
"0000763950"	"00015885"	"70"	"1935"	"1"	"1935"	"1"	"c.1935+1del"	"r.spl"	"p.?"	""
"0000763951"	"00015885"	"70"	"1004"	"1"	"1004"	"1"	"c.1004+1G>A"	"r.spl"	"p.?"	""
"0000763952"	"00015885"	"70"	"1004"	"1"	"1004"	"1"	"c.1004+1G>A"	"r.spl"	"p.?"	""
"0000764017"	"00015885"	"70"	"2518"	"5"	"2518"	"5"	"c.2518+5G>C"	"r.spl"	"p.?"	""
"0000764018"	"00015885"	"70"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	""
"0000764915"	"00015885"	"70"	"89"	"0"	"99"	"0"	"c.89_99del"	"r.(?)"	"p.(Val30GlyfsTer19)"	""
"0000764937"	"00015885"	"70"	"1205"	"0"	"1205"	"0"	"c.1205T>A"	"r.(?)"	"p.(Val402Glu)"	""
"0000765467"	"00015885"	"70"	"2005"	"0"	"2005"	"0"	"c.2005A>G"	"r.(?)"	"p.(Ile669Val)"	""
"0000765776"	"00015885"	"70"	"1613"	"0"	"1613"	"0"	"c.1613T>C"	"r.(?)"	"p.(Phe538Ser)"	""
"0000765802"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>A"	"r.spl"	"p.?"	""
"0000765867"	"00015885"	"70"	"1946"	"0"	"1946"	"0"	"c.1946T>C"	"r.(?)"	"p.(Ile649Thr)"	""
"0000792323"	"00015885"	"90"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	"1"
"0000792324"	"00015885"	"90"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	"1"
"0000792390"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000792391"	"00015885"	"70"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	""
"0000794050"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000794051"	"00015885"	"70"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.(?)"	"p.(Arg276Gln)"	""
"0000794116"	"00015885"	"70"	"480"	"0"	"480"	"0"	"c.480G>T"	"r.(?)"	"p.(Lys160Asn)"	""
"0000794686"	"00015885"	"70"	"1646"	"0"	"1646"	"0"	"c.1646T>C"	"r.(?)"	"p.(Met549Thr)"	""
"0000794687"	"00015885"	"70"	"1766"	"0"	"1766"	"0"	"c.1766A>G"	"r.(?)"	"p.(Asp589Gly)"	""
"0000794889"	"00015885"	"70"	"-1"	"0"	"480"	"1"	"c.(?_-1)_(480+1_481-1)del"	"r.?"	"p.?"	""
"0000795721"	"00015885"	"70"	"1899"	"0"	"1899"	"0"	"c.1899C>A"	"r.(?)"	"p.(His633Gln)"	""
"0000795726"	"00015885"	"70"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.(?)"	""
"0000796134"	"00015885"	"90"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Trp)"	"1"
"0000797708"	"00015885"	"70"	"1758"	"0"	"1758"	"0"	"c.1758C>A"	"r.(?)"	"p.(Tyr586*)"	""
"0000804639"	"00015885"	"50"	"356"	"0"	"356"	"0"	"c.356C>T"	"r.(?)"	"p.(Pro119Leu)"	""
"0000811501"	"00015885"	"50"	"1643"	"0"	"1643"	"0"	"c.1643G>T"	"r.(?)"	"p.(Trp548Leu)"	""
"0000811531"	"00015885"	"70"	"2507"	"0"	"2507"	"0"	"c.2507del"	"r.(?)"	"p.(Gly836GlufsTer21)"	""
"0000812485"	"00015885"	"70"	"1612"	"0"	"1612"	"0"	"c.1612T>A"	"r.(?)"	"p.(Phe538Ile)"	"12"
"0000812781"	"00015885"	"70"	"940"	"0"	"940"	"0"	"c.940G>T"	"r.(?)"	"p.(Glu314*)"	""
"0000815534"	"00015885"	"50"	"1926"	"0"	"1926"	"0"	"c.1926G>T"	"r.(?)"	"p.(Leu642Phe)"	""
"0000815565"	"00015885"	"50"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Ser)"	""
"0000815581"	"00015885"	"50"	"2082"	"0"	"2082"	"0"	"c.2082G>A"	"r.(?)"	"p.(Met694Ile)"	""
"0000815600"	"00015885"	"50"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Ser)"	""
"0000820369"	"00015885"	"70"	"2141"	"0"	"2141"	"0"	"c.2141T>A"	"r.(?)"	"p.(Ile714Asn)"	""
"0000820505"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>A"	"r.spl?"	"p.(?)"	""
"0000820506"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>A"	"r.spl?"	"p.(?)"	""
"0000820572"	"00015885"	"70"	"2141"	"0"	"2141"	"0"	"c.2141T>A"	"r.(?)"	"p.(Ile714Asn)"	""
"0000821330"	"00015885"	"70"	"864"	"1"	"864"	"1"	"c.864+1G>A"	"r.spl"	"p.(?)"	""
"0000821331"	"00015885"	"70"	"1847"	"3"	"1847"	"6"	"c.1847+3_1847+6del"	"r.spl"	"p.(?)"	""
"0000821332"	"00015885"	"70"	"631"	"0"	"631"	"0"	"c.631G>T"	"r.(?)"	"p.(Glu211*)"	""
"0000821591"	"00015885"	"70"	"595"	"0"	"595"	"0"	"c.595A>G"	"r.(?)"	"p.(Lys199Glu)"	""
"0000822397"	"00015885"	"70"	"864"	"1"	"864"	"1"	"c.864+1G>A"	"r.spl?"	"p.?"	"4i"
"0000822398"	"00015885"	"70"	"864"	"1"	"864"	"1"	"c.864+1G>A"	"r.spl?"	"p.?"	"4i"
"0000822966"	"00015885"	"70"	"490"	"0"	"490"	"0"	"c.490T>C"	"r.(?)"	"p.(Phe164Leu)"	""
"0000823701"	"00015885"	"70"	"1755"	"0"	"1755"	"0"	"c.1755G>T"	"r.(?)"	"p.(Lys585Asn)"	""
"0000823822"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000823823"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000823824"	"00015885"	"70"	"421"	"0"	"421"	"0"	"c.421G>C"	"r.(?)"	"p.(Gly141Arg)"	""
"0000823825"	"00015885"	"70"	"939"	"2"	"939"	"2"	"c.939+2T>C"	"r.spl"	"p.(?)"	""
"0000823826"	"00015885"	"70"	"648"	"0"	"648"	"0"	"c.648C>G"	"r.(?)"	"p.(Tyr216*)"	""
"0000823827"	"00015885"	"70"	"1114"	"0"	"1114"	"0"	"c.1114T>C"	"r.(?)"	"p.(Phe372Leu)"	""
"0000823828"	"00015885"	"70"	"1004"	"1"	"1004"	"1"	"c.1004+1G>A"	"r.spl"	"p.(?)"	""
"0000823829"	"00015885"	"70"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	""
"0000823830"	"00015885"	"70"	"1777"	"0"	"1777"	"0"	"c.1777T>C"	"r.(?)"	"p.(Phe593Leu)"	""
"0000823831"	"00015885"	"70"	"2159"	"0"	"2159"	"0"	"c.2159C>T"	"r.(?)"	"p.(Thr720Met)"	""
"0000823832"	"00015885"	"70"	"2156"	"0"	"2156"	"0"	"c.2156T>C"	"r.(?)"	"p.(Met719Thr)"	""
"0000823833"	"00015885"	"70"	"2364"	"0"	"2368"	"0"	"c.2364_2368del"	"r.(?)"	"p.(Tyr788*)"	""
"0000823834"	"00015885"	"70"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Arg793Trp)"	""
"0000826488"	"00015885"	"50"	"2017"	"0"	"2017"	"0"	"c.2017G>T"	"r.(?)"	"p.(Asp673Tyr)"	"16"
"0000826489"	"00015885"	"50"	"2017"	"0"	"2017"	"0"	"c.2017G>T"	"r.(?)"	"p.(Asp673Tyr)"	"16"
"0000832732"	"00015885"	"70"	"857"	"0"	"857"	"0"	"c.857del"	"r.(?)"	"p.(Lys286Argfs*16)"	""
"0000832748"	"00015885"	"70"	"857"	"0"	"857"	"0"	"c.857del"	"r.(?)"	"p.(Lys286Argfs*16)"	""
"0000862088"	"00015885"	"30"	"1332"	"0"	"1332"	"0"	"c.1332G>A"	"r.(?)"	"p.(Lys444=)"	""
"0000862089"	"00015885"	"30"	"1561"	"0"	"1561"	"0"	"c.1561T>C"	"r.(?)"	"p.(Leu521=)"	""
"0000862090"	"00015885"	"30"	"2037"	"-7"	"2037"	"-7"	"c.2037-7T>C"	"r.(=)"	"p.(=)"	""
"0000876977"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000876978"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000876979"	"00015885"	"70"	"967"	"0"	"967"	"0"	"c.967T>A"	"r.(?)"	"p.(Tyr323Asn)"	""
"0000876980"	"00015885"	"70"	"967"	"0"	"967"	"0"	"c.967T>A"	"r.(?)"	"p.(Tyr323Asn)"	""
"0000876981"	"00015885"	"70"	"256"	"0"	"257"	"0"	"c.256_257dup"	"r.(?)"	"p.(Leu87GlyfsTer57)"	""
"0000876982"	"00015885"	"70"	"633"	"0"	"633"	"0"	"c.633G>C"	"r.(?)"	"p.(Glu211Asp)"	""
"0000876983"	"00015885"	"70"	"633"	"0"	"633"	"0"	"c.633G>C"	"r.(?)"	"p.(Glu211Asp)"	""
"0000876984"	"00015885"	"70"	"2367"	"1"	"2367"	"5"	"c.2367+1_2367+5del"	"r.spl"	"p.?"	""
"0000876985"	"00015885"	"70"	"1363"	"0"	"1363"	"0"	"c.1363A>G"	"r.(?)"	"p.(Met455Val)"	""
"0000876986"	"00015885"	"70"	"1363"	"0"	"1363"	"0"	"c.1363A>G"	"r.(?)"	"p.(Met455Val)"	""
"0000877046"	"00015885"	"70"	"481"	"-12"	"481"	"-12"	"c.481-12T>A"	"r.spl"	"p.(Asn161fs*169)"	""
"0000877047"	"00015885"	"70"	"481"	"-12"	"481"	"-12"	"c.481-12T>A"	"r.spl"	"p.(Asn161fs*169)"	""
"0000877048"	"00015885"	"70"	"1805"	"0"	"1805"	"0"	"c.1805A>T"	"r.(?)"	"p.(His602Leu)"	""
"0000877049"	"00015885"	"70"	"1805"	"0"	"1805"	"0"	"c.1805A>T"	"r.(?)"	"p.(His602Leu)"	""
"0000877050"	"00015885"	"70"	"826"	"0"	"826"	"0"	"c.826C>T"	"r.(?)"	"p.(Arg276*)"	""
"0000877051"	"00015885"	"70"	"1682"	"0"	"1683"	"0"	"c.1682_1683insA"	"r.(?)"	"p.(Tyr561*)"	""
"0000877052"	"00015885"	"70"	"1483"	"-2"	"1483"	"-2"	"c.1483-2A>G"	"r.1483_1629del"	"p.(Lys495_Glu543del)"	""
"0000877053"	"00015885"	"70"	"1483"	"-2"	"1483"	"-2"	"c.1483-2A>G"	"r.1483_1629del"	"p.(Lys495_Glu543del)"	""
"0000877054"	"00015885"	"70"	"2368"	"0"	"2368"	"0"	"c.2368G>A"	"r.(?)"	"p.[Glu790Lys;Glu790fs*17]"	""
"0000877055"	"00015885"	"70"	"2368"	"0"	"2368"	"0"	"c.2368G>A"	"r.(?)"	"p.[Glu790Lys;Glu790fs*17]"	""
"0000877056"	"00015885"	"70"	"2457"	"0"	"2457"	"0"	"c.2457T>A"	"r.(?)"	"p.(Tyr819*)"	""
"0000877058"	"00015885"	"90"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000877059"	"00015885"	"70"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Pro391Leu)"	""
"0000877060"	"00015885"	"70"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Pro391Leu)"	""
"0000877061"	"00015885"	"70"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Pro391Leu)"	""
"0000877062"	"00015885"	"70"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	""
"0000877063"	"00015885"	"70"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	""
"0000877064"	"00015885"	"70"	"2144"	"1"	"2144"	"1"	"c.2144+1G>A"	"r.spl"	"p.(Met715Ifs*2)"	""
"0000877071"	"00015885"	"70"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	"14"
"0000877072"	"00015885"	"70"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	"14"
"0000877078"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>A"	"r.spl"	"p.?"	""
"0000877079"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>A"	"r.spl"	"p.?"	""
"0000877080"	"00015885"	"70"	"2156"	"0"	"2156"	"0"	"c.2156T>C"	"r.(?)"	"p.(Met719Thr)"	""
"0000877081"	"00015885"	"70"	"1579"	"0"	"1579"	"0"	"c.1579C>T"	"r.(?)"	"p.(Arg527*)"	""
"0000877082"	"00015885"	"70"	"2246"	"0"	"2246"	"0"	"c.2246G>A"	"r.(?)"	"p.(Gly749Glu)"	""
"0000877083"	"00015885"	"70"	"2141"	"0"	"2141"	"0"	"c.2141T>A"	"r.(?)"	"p.(Ile714Asn)"	""
"0000877084"	"00015885"	"70"	"2141"	"0"	"2141"	"0"	"c.2141T>A"	"r.(?)"	"p.(Ile714Asn)"	""
"0000877085"	"00015885"	"70"	"1269"	"1"	"1269"	"1"	"c.1269+1G>A"	"r.spl"	"p.?"	""
"0000877086"	"00015885"	"70"	"78"	"0"	"78"	"0"	"c.78del"	"r.(?)"	"p.(Lys27Serfs*27)"	""
"0000877087"	"00015885"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Trp)"	""
"0000877088"	"00015885"	"70"	"211"	"0"	"211"	"0"	"c.211G>T"	"r.(?)"	"p.(Glu71*)"	""
"0000877089"	"00015885"	"70"	"497"	"0"	"497"	"0"	"c.497del"	"r.(?)"	"p.(Asp166Alafs*28)"	""
"0000877090"	"00015885"	"70"	"2141"	"0"	"2141"	"0"	"c.2141T>A"	"r.(?)"	"p.(Ile714Asn)"	""
"0000877091"	"00015885"	"70"	"857"	"0"	"857"	"0"	"c.857del"	"r.(?)"	"p.(Lys286Argfs*16)"	""
"0000877092"	"00015885"	"70"	"1004"	"1"	"1004"	"1"	"c.1004+1G>A"	"r.spl"	"p.?"	""
"0000877093"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000877094"	"00015885"	"70"	"2288"	"0"	"2288"	"0"	"c.2288T>C"	"r.(?)"	"p.(Met763Thr)"	""
"0000877095"	"00015885"	"70"	"2294"	"0"	"2294"	"0"	"c.2294A>G"	"r.(?)"	"p.(Asp765Gly)"	""
"0000877096"	"00015885"	"70"	"775"	"0"	"775"	"0"	"c.775C>T"	"r.(?)"	"p.(Arg259*)"	""
"0000877097"	"00015885"	"70"	"1579"	"0"	"1579"	"0"	"c.1579C>T"	"r.(?)"	"p.(Arg527*)"	""
"0000877098"	"00015885"	"70"	"1637"	"0"	"1637"	"0"	"c.1637C>A"	"r.(?)"	"p.(Thr546Asn)"	""
"0000877099"	"00015885"	"70"	"836"	"0"	"836"	"0"	"c.836T>C"	"r.(?)"	"p.(Ile279Thr)"	""
"0000877147"	"00015885"	"70"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557Gln)"	""
"0000877149"	"00015885"	"90"	"864"	"1"	"864"	"1"	"c.864+1G>A"	"r.(?)"	"p.?"	""
"0000877150"	"00015885"	"90"	"864"	"1"	"864"	"1"	"c.864+1G>A"	"r.(?)"	"p.?"	""
"0000877151"	"00015885"	"90"	"631"	"0"	"631"	"0"	"c.631G>T"	"r.(?)"	"p.(Glu211Ter)"	""
"0000877152"	"00015885"	"50"	"893"	"0"	"893"	"0"	"c.893T>A"	"r.(?)"	"p.(Leu298His)"	""
"0000877153"	"00015885"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>T"	"r.(?)"	"p.(Gly835Ter)"	""
"0000877154"	"00015885"	"50"	"1646"	"0"	"1646"	"0"	"c.1646T>C"	"r.(?)"	"p.(Met549Thr)"	""
"0000877155"	"00015885"	"50"	"595"	"0"	"595"	"0"	"c.595A>G"	"r.(?)"	"p.(Lys199Glu)"	""
"0000877156"	"00015885"	"50"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0000877157"	"00015885"	"50"	"326"	"0"	"326"	"0"	"c.326A>T"	"r.(?)"	"p.(Glu109Val)"	""
"0000877158"	"00015885"	"50"	"1847"	"3"	"1847"	"6"	"c.1847+3_1847+6del"	"r.(?)"	"p.?"	""
"0000881434"	"00015885"	"50"	"1339"	"0"	"1339"	"0"	"c.1339A>G"	"r.(?)"	"p.(Asn447Asp)"	""
"0000881435"	"00015885"	"50"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.(?)"	"p.(Arg276Gln)"	""
"0000881461"	"00015885"	"50"	"2082"	"0"	"2082"	"0"	"c.2082G>A"	"r.(?)"	"p.(Met694Ile)"	""
"0000881462"	"00015885"	"50"	"1472"	"0"	"1474"	"0"	"c.1472_1474dup"	"r.(?)"	"p.(Val491dup)"	""
"0000889331"	"00015885"	"30"	"219"	"0"	"219"	"0"	"c.219G>T"	"r.(?)"	"p.(Gly73=)"	""
"0000889332"	"00015885"	"30"	"1212"	"0"	"1212"	"0"	"c.1212A>C"	"r.(?)"	"p.(Thr404=)"	""
"0000889333"	"00015885"	"30"	"2175"	"0"	"2175"	"0"	"c.2175T>C"	"r.(?)"	"p.(Ser725=)"	""
"0000900614"	"00015885"	"70"	"1413"	"1"	"1413"	"1"	"c.1413+1G>C"	"r.spl"	"p.?"	""
"0000900615"	"00015885"	"70"	"1413"	"1"	"1413"	"1"	"c.1413+1G>C"	"r.spl"	"p.?"	""
"0000900616"	"00015885"	"70"	"1413"	"1"	"1413"	"1"	"c.1413+1G>C"	"r.spl"	"p.?"	""
"0000900617"	"00015885"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102Gln)"	""
"0000900618"	"00015885"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102Gln)"	""
"0000900619"	"00015885"	"70"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Arg102Gln)"	""
"0000900620"	"00015885"	"70"	"1775"	"0"	"1775"	"0"	"c.1775C>A"	"r.(?)"	"p.(Ala592Asp)"	""
"0000900621"	"00015885"	"70"	"1775"	"0"	"1775"	"0"	"c.1775C>A"	"r.(?)"	"p.(Ala592Asp)"	""
"0000900622"	"00015885"	"90"	"1579"	"0"	"1579"	"0"	"c.1579C>T"	"r.(?)"	"p.(Arg527*)"	""
"0000900623"	"00015885"	"50"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Arg793Trp)"	""
"0000900624"	"00015885"	"50"	"1652"	"0"	"1652"	"0"	"c.1652C>T"	"r.(?)"	"p.(Thr551Ile)"	""
"0000900625"	"00015885"	"50"	"1307"	"0"	"1307"	"0"	"c.1307C>G"	"r.(?)"	"p.(Thr436Ser)"	""
"0000900626"	"00015885"	"90"	"939"	"2"	"939"	"2"	"c.939+2T>G"	"r.spl"	"p.?"	""
"0000900628"	"00015885"	"90"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557Gln)"	""
"0000900629"	"00015885"	"90"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557Gln)"	""
"0000900630"	"00015885"	"90"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557Gln)"	""
"0000900631"	"00015885"	"90"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557Gln)"	""
"0000900632"	"00015885"	"90"	"2192"	"0"	"2192"	"0"	"c.2192G>A"	"r.(?)"	"p.(Trp731*)"	""
"0000929733"	"00015885"	"90"	"1201"	"0"	"1210"	"0"	"c.1201_1210del"	"r.(?)"	"p.(Gly401Hisfs*31)"	""
"0000929734"	"00015885"	"90"	"1738"	"-12"	"1738"	"0"	"c.1738-12_1738del"	"r.spl?"	"p.?"	""
"0000933602"	"00015885"	"90"	"221"	"0"	"221"	"0"	"c.221del"	"r.(?)"	"p.(Gly74Alafs*69)"	""
"0000954063"	"00015885"	"90"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Glu591Lys)"	""
"0000954064"	"00015885"	"90"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0000954085"	"00015885"	"90"	"2269"	"0"	"2269"	"0"	"c.2269C>T"	"r.(?)"	"p.(Gln757Ter)"	""
"0000954086"	"00015885"	"90"	"712"	"0"	"712"	"0"	"c.712C>T"	"r.(?)"	"p.(Arg238Ter)"	""
"0000958827"	"00015885"	"50"	"752"	"0"	"752"	"0"	"c.752T>C"	"r.(?)"	"p.(Phe251Ser)"	""
"0000958828"	"00015885"	"50"	"1071"	"5"	"1071"	"5"	"c.1071+5G>A"	"r.spl?"	"p.?"	""
"0000965950"	"00015885"	"50"	"1708"	"0"	"1708"	"0"	"c.1708G>A"	"r.(?)"	"p.(Val570Met)"	""
"0000986489"	"00015885"	"70"	"2206"	"0"	"2206"	"0"	"c.2206C>T"	"r.(?)"	"p.(Gln736Ter)"	"18"
"0000987312"	"00015885"	"70"	"85"	"0"	"85"	"0"	"c.85C>T"	"r.(?)"	"p.(Arg29Trp)"	""
"0001010302"	"00015885"	"90"	"1936"	"-2"	"1936"	"-2"	"c.1936-2A>G"	"r.spl"	"p.?"	""
"0001010303"	"00015885"	"50"	"297"	"0"	"297"	"0"	"c.297C>G"	"r.(?)"	"p.(Phe99Leu)"	""
"0001010304"	"00015885"	"50"	"297"	"0"	"297"	"0"	"c.297C>G"	"r.(?)"	"p.(Phe99Leu)"	""
"0001010305"	"00015885"	"90"	"1071"	"5"	"1071"	"5"	"c.1071+5G>A"	"r.spl"	"p.?"	""
"0001010337"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>T"	"r.spl"	"p.?"	""
"0001010338"	"00015885"	"70"	"939"	"5"	"939"	"5"	"c.939+5G>T"	"r.spl"	"p.?"	""
"0001014699"	"00015885"	"70"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0001022305"	"00015885"	"90"	"2304"	"0"	"2305"	"0"	"c.2304_2305del"	"r.(?)"	"p.(Asp770Ter)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 184
"{{screeningid}}"	"{{variantid}}"
"0000230684"	"0000472273"
"0000291344"	"0000648033"
"0000309522"	"0000684387"
"0000309541"	"0000684406"
"0000309542"	"0000684407"
"0000309542"	"0000684431"
"0000309807"	"0000684680"
"0000309807"	"0000684710"
"0000310440"	"0000685351"
"0000310441"	"0000685352"
"0000329184"	"0000713307"
"0000329332"	"0000713455"
"0000329332"	"0000713784"
"0000329465"	"0000713588"
"0000332946"	"0000730326"
"0000333500"	"0000731154"
"0000333693"	"0000731442"
"0000334590"	"0000732513"
"0000336454"	"0000735829"
"0000360260"	"0000760152"
"0000360260"	"0000760422"
"0000363373"	"0000763950"
"0000363373"	"0000764017"
"0000363374"	"0000763951"
"0000363375"	"0000763952"
"0000363375"	"0000764018"
"0000364153"	"0000764915"
"0000364153"	"0000764937"
"0000364602"	"0000765467"
"0000364834"	"0000765776"
"0000364860"	"0000765802"
"0000364925"	"0000765867"
"0000379209"	"0000792323"
"0000379210"	"0000792324"
"0000379254"	"0000792390"
"0000379254"	"0000792391"
"0000380842"	"0000794050"
"0000380842"	"0000794051"
"0000380884"	"0000794116"
"0000381291"	"0000794686"
"0000381291"	"0000794687"
"0000381428"	"0000794889"
"0000382068"	"0000795721"
"0000382073"	"0000795726"
"0000382357"	"0000796134"
"0000383546"	"0000797708"
"0000384733"	"0000811501"
"0000384733"	"0000811531"
"0000385437"	"0000812485"
"0000385678"	"0000812781"
"0000387403"	"0000815581"
"0000387434"	"0000815600"
"0000387502"	"0000815534"
"0000387513"	"0000815565"
"0000391024"	"0000820369"
"0000391160"	"0000820505"
"0000391161"	"0000820506"
"0000391227"	"0000820572"
"0000391581"	"0000821330"
"0000391582"	"0000821331"
"0000391582"	"0000821591"
"0000391583"	"0000821332"
"0000392196"	"0000822397"
"0000392196"	"0000822398"
"0000392623"	"0000822966"
"0000393070"	"0000823701"
"0000393165"	"0000823822"
"0000393165"	"0000823823"
"0000393166"	"0000823824"
"0000393166"	"0000823825"
"0000393167"	"0000823826"
"0000393167"	"0000823827"
"0000393168"	"0000823828"
"0000393168"	"0000823829"
"0000393169"	"0000823830"
"0000393169"	"0000823831"
"0000393170"	"0000823832"
"0000393171"	"0000823833"
"0000393171"	"0000823834"
"0000395233"	"0000826488"
"0000395233"	"0000826489"
"0000400015"	"0000832732"
"0000400015"	"0000832748"
"0000417339"	"0000876977"
"0000417340"	"0000876978"
"0000417341"	"0000876979"
"0000417342"	"0000876980"
"0000417343"	"0000876981"
"0000417343"	"0000876984"
"0000417344"	"0000876982"
"0000417344"	"0000876985"
"0000417345"	"0000876983"
"0000417345"	"0000876986"
"0000417388"	"0000877046"
"0000417388"	"0000877052"
"0000417389"	"0000877047"
"0000417389"	"0000877053"
"0000417390"	"0000877048"
"0000417390"	"0000877054"
"0000417391"	"0000877049"
"0000417391"	"0000877055"
"0000417392"	"0000877050"
"0000417392"	"0000877056"
"0000417393"	"0000877051"
"0000417394"	"0000877058"
"0000417394"	"0000877064"
"0000417395"	"0000877059"
"0000417396"	"0000877060"
"0000417397"	"0000877061"
"0000417398"	"0000877062"
"0000417399"	"0000877063"
"0000417401"	"0000877071"
"0000417402"	"0000877072"
"0000417408"	"0000877078"
"0000417409"	"0000877079"
"0000417410"	"0000877080"
"0000417410"	"0000877094"
"0000417411"	"0000877081"
"0000417412"	"0000877082"
"0000417412"	"0000877095"
"0000417413"	"0000877083"
"0000417414"	"0000877084"
"0000417415"	"0000877085"
"0000417416"	"0000877086"
"0000417416"	"0000877096"
"0000417417"	"0000877087"
"0000417418"	"0000877088"
"0000417418"	"0000877097"
"0000417419"	"0000877089"
"0000417419"	"0000877098"
"0000417420"	"0000877090"
"0000417421"	"0000877091"
"0000417422"	"0000877092"
"0000417423"	"0000877093"
"0000417423"	"0000877099"
"0000417471"	"0000877147"
"0000417473"	"0000877149"
"0000417473"	"0000877156"
"0000417474"	"0000877150"
"0000417475"	"0000877151"
"0000417476"	"0000877152"
"0000417476"	"0000877157"
"0000417477"	"0000877153"
"0000417478"	"0000877154"
"0000417479"	"0000877155"
"0000417479"	"0000877158"
"0000421016"	"0000881434"
"0000421016"	"0000881461"
"0000421017"	"0000881435"
"0000421017"	"0000881462"
"0000424545"	"0000900614"
"0000424545"	"0000900617"
"0000424546"	"0000900615"
"0000424546"	"0000900618"
"0000424547"	"0000900616"
"0000424547"	"0000900619"
"0000424548"	"0000900620"
"0000424549"	"0000900621"
"0000424550"	"0000900622"
"0000424550"	"0000900626"
"0000424551"	"0000900623"
"0000424552"	"0000900624"
"0000424553"	"0000900625"
"0000424554"	"0000900628"
"0000424555"	"0000900629"
"0000424556"	"0000900630"
"0000424556"	"0000900632"
"0000424557"	"0000900631"
"0000438077"	"0000933602"
"0000445878"	"0000954063"
"0000445878"	"0000954085"
"0000445879"	"0000954064"
"0000445879"	"0000954086"
"0000449060"	"0000958827"
"0000449061"	"0000958828"
"0000452506"	"0000986489"
"0000452719"	"0000987312"
"0000456616"	"0001010302"
"0000456617"	"0001010303"
"0000456617"	"0001010337"
"0000456618"	"0001010304"
"0000456618"	"0001010338"
"0000456619"	"0001010305"
"0000462754"	"0001022305"