### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LCA5)
# 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}}"
"LCA5"	"Leber congenital amaurosis 5"	"6"	"q14"	"unknown"	"NG_016011.1"	"UD_132118692932"	""	"http://www.LOVD.nl/LCA5"	""	"1"	"31923"	"167691"	"611408"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nWe gratefully acknowledge the efforts of <b><i>Frans Cremers</i></b> in initiating the ABCA4 gene variant database, and his work as curator from the start to 2023."	""	"g"	"http://databases.lovd.nl/shared/refseq/LCA5_NM_181714.3_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"	"2024-01-12 12:56:25"	"00006"	"2025-04-07 13:47:05"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00010990"	"LCA5"	"transcript variant 1"	"002"	"NM_181714.3"	""	"NP_859065.2"	""	""	""	"-612"	"4107"	"2094"	"80247147"	"80194708"	""	"0000-00-00 00:00:00"	""	""
"00025900"	"LCA5"	"transcript variant 2"	"001"	"NM_001122769.2"	""	"NP_001116241.1"	""	""	""	"-457"	"4107"	"2094"	"80247147"	"80194708"	"00006"	"2024-01-25 16:03:47"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"02516"	"LCA5"	"Leber congenital amaurosis, type 5 (LCA-5)"	"AR"	"604537"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"04211"	"RPar"	"retinitis pigmentosa, autosomal recessive (RPar)"	""	""	""	""	""	"00006"	"2015-02-27 18:58:57"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04250"	"-"	"retinal degeneration"	""	""	""	""	""	"00006"	"2015-05-04 22:12:01"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"LCA5"	"02516"


## Individuals ## Do not remove or alter this header ##
## Count = 175
"{{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}}"
"00059789"	""	""	""	"1"	""	"00039"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	""	""	"0"	""	""	""	""
"00059835"	""	""	""	"1"	""	"01251"	"{PMID:Ahmad et al 2011:21850168}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059836"	""	""	""	"1"	""	"01251"	"{PMID:Ahmad et al 2011:21850168}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059837"	""	""	""	"1"	""	"01251"	"{PMID:Ahmad et al 2011:21850168}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059838"	""	""	""	"1"	""	"01251"	"{PMID:Ahmad et al 2011:21850168}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059839"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"F"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00059840"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"M"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00059841"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"M"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00059842"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"M"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00059843"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"F"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00059844"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"F"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00059845"	""	""	""	"1"	""	"01251"	"{PMID:Gerber et al 2007:18000884}"	""	"F"	"yes"	"Morocco"	""	"0"	""	""	""	""
"00059846"	""	""	""	"1"	""	"01251"	"{PMID:Ramprasad et al 2008:18334959}"	""	"F"	"no"	"India"	""	"0"	""	""	""	""
"00059847"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059848"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059849"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059850"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059851"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059852"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059853"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059854"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059855"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059856"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059857"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059858"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059859"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059860"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"F"	"yes"	"Morocco"	""	"0"	""	""	""	""
"00059861"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00059862"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	"1 familie, 2 patients"	"F"	"yes"	""	""	"0"	""	""	""	""
"00059863"	""	""	""	"1"	""	"01251"	"{PMID:Hollander et al 2007:17546029}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00059864"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00059865"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00059866"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00059867"	""	""	""	"3"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	"4-generation family, 3 affecteds (F, 2M), unaffected heterozygous carriers"	"F;M"	"yes"	""	""	"0"	""	""	""	""
"00059868"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00059869"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00059870"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Mexico"	""	"0"	""	""	"Mexican"	""
"00059871"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00059872"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00059873"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	"Slovakian/Romani"	""
"00059874"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	"Indian / Mauritian"	""
"00059875"	""	""	""	"1"	""	"01251"	""	""	""	""	"Iran"	""	"0"	""	""	"Iraqi"	""
"00059876"	""	""	""	"1"	""	"01251"	""	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00059877"	""	""	""	"1"	""	"01251"	""	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00059879"	""	""	""	"1"	""	"01251"	""	""	""	""	"United States"	""	"0"	""	""	"American"	""
"00059880"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British, white"	""
"00059881"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00059882"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00059883"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00059884"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00059885"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00059886"	""	""	""	"1"	""	"00039"	""	"1 familie, 1 patient"	"?"	"yes"	"Spain"	""	"0"	""	""	"Spain"	""
"00059887"	""	""	""	"1"	""	"00039"	""	""	"?"	"yes"	"Spain"	""	"0"	""	""	""	""
"00059917"	""	""	""	"1"	""	"00241"	""	"1 familie, 1 patient"	"F"	"?"	"China"	""	"0"	""	""	""	""
"00059918"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	"1 family, 3 affecteds, unaffected heterozygous carriers"	"M"	"yes"	"Spain"	""	"0"	""	""	""	""
"00059919"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	"F"	"?"	"Spain"	""	"0"	""	""	""	""
"00059920"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	"1 family, 2 patients"	"M"	"yes"	"Spain"	""	"0"	""	""	""	""
"00059921"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	"M"	"yes"	"Spain"	""	"0"	""	""	""	""
"00059922"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	"M"	"yes"	"Spain"	""	"0"	""	""	""	""
"00059926"	""	""	""	"1"	""	"00243"	""	"family, 1 patient"	"F"	"yes"	"India"	""	"0"	""	""	"South India"	""
"00059927"	""	""	""	"1"	""	"00243"	""	"family, 1 patient"	"M"	"no"	"India"	""	"0"	""	""	"North India"	""
"00060157"	""	""	""	"1"	""	"01251"	"{PMID:Wiszniewski et al 2010:21153841}"	""	"?"	"?"	"United States"	""	"0"	""	""	""	""
"00060158"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00060159"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00060160"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00060161"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00060162"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	""	""	"0"	""	""	""	""
"00060163"	""	""	""	"1"	""	"01251"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00060164"	""	""	""	"1"	""	"01251"	""	""	"?"	"?"	""	""	"0"	""	""	""	""
"00060165"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00060166"	""	""	""	"1"	""	"01251"	""	""	""	""	""	""	"0"	""	""	""	""
"00060167"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British, white"	""
"00060168"	""	""	""	"1"	""	"01251"	""	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00060169"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	"?"	"China"	""	"0"	""	""	"Chinese"	""
"00060170"	""	""	""	"1"	""	"01251"	""	""	""	""	"United States"	""	"0"	""	""	"American"	""
"00060171"	""	""	""	"1"	""	"01251"	""	""	""	""	"United States"	""	"0"	""	""	"American"	""
"00060172"	""	""	""	"1"	""	"01251"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Taiwan"	""	"0"	""	""	"Taiwanese"	""
"00060173"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00060202"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	"M"	"no"	"Spain"	""	"0"	""	""	""	""
"00060203"	""	""	""	"1"	""	"00230"	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00063827"	""	""	""	"3"	""	"00006"	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	"6-generation family, 3 affecteds (3M), unaffected heterozygous carriers"	"M"	"yes"	""	""	"0"	""	""	""	""
"00095952"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"?"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61058"
"00100070"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"no"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61078"
"00155491"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish"	""
"00155492"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155493"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Druze"	""
"00294209"	""	""	""	"9"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309214"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309215"	""	""	""	"3"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"3 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309216"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309885"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00327463"	""	""	""	"2"	""	"03980"	"Doucette 2021, Submitted"	"Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern."	"F"	""	"Canada"	""	""	"Yes"	""	"Middle eastern origin"	"M69 II-1"
"00327947"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240087"
"00328028"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G001303"
"00328141"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G005542"
"00328245"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G008987"
"00332352"	""	""	""	"2"	""	"00000"	"{PMID:Thompson 2017:29178642}"	"family, 2 affected"	""	""	"Australia"	""	"0"	""	""	""	"Fam1894"
"00333360"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat14"
"00333364"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat4"
"00333429"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD6–02"
"00333951"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"412"
"00358717"	""	""	""	"1"	""	"00000"	"{PMID:Carrigan 2016:27624628}"	""	""	""	"Ireland"	""	"0"	""	""	""	""
"00358974"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71749"
"00359066"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12003872"
"00363694"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0861"
"00372438"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"141"
"00372439"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"85"
"00372440"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"76"
"00372441"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"1668163"
"00372442"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"1665955"
"00372499"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"497"
"00373899"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-532-1087"
"00375413"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#005"
"00377033"	""	""	""	"1"	""	"00000"	"{PMID:mckibbin-2010:20065226}"	""	""	""	""	""	"0"	""	""	""	""
"00377034"	""	""	""	"1"	""	"00000"	"{PMID:mckibbin-2010:20065226}"	""	""	""	""	""	"0"	""	""	""	""
"00377035"	""	""	""	"1"	""	"00000"	"{PMID:mckibbin-2010:20065226}"	""	""	""	""	""	"0"	""	""	""	""
"00377902"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"novel"	""	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377907"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"den Hollander et al., 2004"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00379844"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016082401"
"00381035"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381037"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381190"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381649"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"?"	"Saudi Arabia"	""	"0"	""	""	""	""
"00381654"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"?"	"Saudi Arabia"	""	"0"	""	""	""	""
"00382852"	""	""	""	"1"	""	"00000"	"{PMID:Beryozkin-2014:24474277}"	""	""	"yes"	""	""	"0"	""	""	"Arab-Muslim"	""
"00383443"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00384195"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066855"
"00384276"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13363"
"00384335"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"13740"
"00384366"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"14012"
"00385013"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19264"
"00385062"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67003"
"00386168"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-278"
"00387658"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"46"
"00387659"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"47"
"00387660"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"48"
"00387661"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"49"
"00389117"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 130, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"401"
"00389118"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 130, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"402"
"00389863"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 808, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1147"
"00390297"	""	""	""	"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"	""	""	""	"G001303"
"00390298"	""	""	""	"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"	""	""	""	"G005542"
"00390299"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G008987"
"00391577"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"Maori"	"74"
"00391656"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"53"
"00391657"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"53"
"00391658"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"54"
"00393442"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00406427"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-588"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406880"	""	""	""	"1"	""	"00000"	"{PMID:Mohamed 2003:12642313}"	"Family 1, individual IV3"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"IV3"
"00406881"	""	""	""	"1"	""	"00000"	"{PMID:Mohamed 2003:12642313}"	"Family 1, individual IV4"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"IV4"
"00406882"	""	""	""	"1"	""	"00000"	"{PMID:Mohamed 2003:12642313}"	"Family 1, individual IV5"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"IV5"
"00406883"	""	""	""	"1"	""	"00000"	"{PMID:Mohamed 2003:12642313}"	"Family 1, individual V1"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"V1"
"00406884"	""	""	""	"1"	""	"00000"	"{PMID:Mohamed 2003:12642313}"	"Family 1, individual V2"	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"V2"
"00406999"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2009:19503738}"	""	"?"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"P1"
"00407000"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2009:19503738}"	""	"?"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Pakistan"	"P2"
"00407084"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2010:20108395}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"?"
"00407085"	""	""	""	"1"	""	"00000"	"{PMID:Vallespin 2010:21488265}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"?"
"00407087"	""	""	""	"1"	""	"00000"	"{PMID:Maranhao 2015:26352687}"	"sixteen-member pedigree with three consanguineous marriages"	"?"	"yes"	"Pakistan"	""	"0"	""	""	""	"IV: 9"
"00407088"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2016:27067258}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	""
"00407089"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2016:27067258}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	""
"00408193"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408194"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408195"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408196"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408197"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408198"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408199"	""	""	""	"1"	""	"00000"	"{PMID:Seong 2009:19172513}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00408862"	""	""	""	"1"	""	"00000"	"{PMID:Herdergott-2015:26464178}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"Patient 1 (II.1)"
"00429672"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429714"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429959"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430081"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	""	""	""	""	"0"	""	""	""	""
"00430082"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	""	""	""	""	"0"	""	""	""	""
"00447721"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"STGD-246"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 175
"{{individualid}}"	"{{diseaseid}}"
"00059789"	"00112"
"00059835"	"02516"
"00059836"	"02516"
"00059837"	"02516"
"00059838"	"02516"
"00059839"	"02516"
"00059840"	"02516"
"00059841"	"02516"
"00059842"	"02516"
"00059843"	"02516"
"00059844"	"02516"
"00059845"	"02516"
"00059846"	"02516"
"00059847"	"02516"
"00059848"	"02516"
"00059849"	"02516"
"00059850"	"02516"
"00059851"	"02516"
"00059852"	"02516"
"00059853"	"02516"
"00059854"	"02516"
"00059855"	"02516"
"00059856"	"02516"
"00059857"	"02516"
"00059858"	"02516"
"00059859"	"02516"
"00059860"	"02516"
"00059861"	"02516"
"00059862"	"02516"
"00059863"	"02516"
"00059864"	"02516"
"00059865"	"00198"
"00059866"	"02516"
"00059867"	"02516"
"00059868"	"02516"
"00059869"	"02516"
"00059870"	"02516"
"00059871"	"02516"
"00059872"	"02516"
"00059873"	"02516"
"00059874"	"02516"
"00059875"	"02516"
"00059876"	"02516"
"00059877"	"02516"
"00059879"	"02516"
"00059880"	"02516"
"00059881"	"02516"
"00059882"	"02516"
"00059883"	"04211"
"00059884"	"04211"
"00059885"	"04211"
"00059886"	"04210"
"00059887"	"04210"
"00059917"	"04210"
"00059918"	"04210"
"00059919"	"04210"
"00059920"	"04210"
"00059921"	"04210"
"00059922"	"04210"
"00059926"	"04210"
"00059927"	"04210"
"00060157"	"02516"
"00060158"	"02516"
"00060159"	"02516"
"00060160"	"02516"
"00060161"	"02516"
"00060162"	"02516"
"00060163"	"02516"
"00060164"	"02516"
"00060165"	"02516"
"00060166"	"02516"
"00060167"	"02516"
"00060168"	"02516"
"00060169"	"02516"
"00060170"	"02516"
"00060171"	"02516"
"00060172"	"02516"
"00060173"	"00198"
"00060202"	"04210"
"00060203"	"04210"
"00063827"	"02516"
"00095952"	"00381"
"00100070"	"00381"
"00155491"	"04210"
"00155492"	"04210"
"00155493"	"04210"
"00294209"	"00198"
"00309214"	"04214"
"00309215"	"04214"
"00309216"	"04214"
"00309885"	"00198"
"00327463"	"04250"
"00327947"	"04214"
"00328028"	"04214"
"00328141"	"04214"
"00328245"	"04214"
"00332352"	"04214"
"00333360"	"04214"
"00333364"	"04214"
"00333429"	"04214"
"00333951"	"04214"
"00358717"	"04214"
"00358974"	"04214"
"00359066"	"04214"
"00363694"	"04214"
"00372438"	"04214"
"00372439"	"04214"
"00372440"	"04214"
"00372441"	"04214"
"00372442"	"04214"
"00372499"	"04214"
"00373899"	"04214"
"00375413"	"04214"
"00377033"	"04214"
"00377034"	"04214"
"00377035"	"04214"
"00377902"	"04214"
"00377907"	"04214"
"00379844"	"04214"
"00381035"	"04214"
"00381037"	"04214"
"00381190"	"04214"
"00381649"	"04214"
"00381654"	"04214"
"00382852"	"04214"
"00383443"	"04214"
"00384195"	"04214"
"00384276"	"04214"
"00384335"	"04214"
"00384366"	"04214"
"00385013"	"04214"
"00385062"	"04214"
"00386168"	"04214"
"00387658"	"04214"
"00387659"	"04214"
"00387660"	"04214"
"00387661"	"04214"
"00389117"	"04214"
"00389118"	"04214"
"00389863"	"04214"
"00390297"	"04214"
"00390298"	"04214"
"00390299"	"04214"
"00391577"	"04214"
"00391656"	"04214"
"00391657"	"04214"
"00391658"	"04214"
"00393442"	"04214"
"00406427"	"04214"
"00406880"	"04214"
"00406881"	"04214"
"00406882"	"04214"
"00406883"	"04214"
"00406884"	"04214"
"00406999"	"04214"
"00407000"	"04214"
"00407084"	"04214"
"00407085"	"04214"
"00407087"	"04214"
"00407088"	"04214"
"00407089"	"04214"
"00408193"	"04214"
"00408194"	"04214"
"00408195"	"04214"
"00408196"	"04214"
"00408197"	"04214"
"00408198"	"04214"
"00408199"	"04214"
"00408862"	"04214"
"00429672"	"00112"
"00429714"	"00112"
"00429959"	"04214"
"00430081"	"04210"
"00430082"	"04210"
"00447721"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 02516, 04210, 04211, 04214, 04250
## Count = 174
"{{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}}"
"0000046281"	"00112"	"00059789"	"00039"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046327"	"02516"	"00059835"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046328"	"02516"	"00059836"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046329"	"02516"	"00059837"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046330"	"02516"	"00059838"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046331"	"02516"	"00059839"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046332"	"02516"	"00059840"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046333"	"02516"	"00059841"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046334"	"02516"	"00059842"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046335"	"02516"	"00059843"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046336"	"02516"	"00059844"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046337"	"02516"	"00059845"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046338"	"02516"	"00059846"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046339"	"02516"	"00059847"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046340"	"02516"	"00059848"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046341"	"02516"	"00059849"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046342"	"02516"	"00059850"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046343"	"02516"	"00059851"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046344"	"02516"	"00059852"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046345"	"02516"	"00059853"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046346"	"02516"	"00059854"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046347"	"02516"	"00059855"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046348"	"02516"	"00059856"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046349"	"02516"	"00059857"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046350"	"02516"	"00059858"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046351"	"02516"	"00059859"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046352"	"02516"	"00059860"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046353"	"02516"	"00059861"	"01251"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046354"	"02516"	"00059862"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046355"	"02516"	"00059863"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046356"	"02516"	"00059864"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046357"	"00198"	"00059865"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046358"	"02516"	"00059866"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046359"	"02516"	"00059867"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046360"	"02516"	"00059868"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046361"	"02516"	"00059869"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046362"	"02516"	"00059870"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046363"	"02516"	"00059871"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046364"	"02516"	"00059872"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046365"	"02516"	"00059873"	"01251"	"Unknown"	""	""	"3m"	""	""	""	""	""	""	""	""	""	""
"0000046366"	"02516"	"00059874"	"01251"	"Unknown"	""	""	">2m"	""	""	""	""	""	""	""	""	""	""
"0000046367"	"02516"	"00059875"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046368"	"02516"	"00059876"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046369"	"02516"	"00059877"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046371"	"02516"	"00059879"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046372"	"02516"	"00059880"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046373"	"02516"	"00059881"	"01251"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046374"	"02516"	"00059882"	"01251"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046375"	"04211"	"00059883"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046376"	"04211"	"00059884"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046377"	"04211"	"00059885"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046378"	"04210"	"00059886"	"00039"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046379"	"04210"	"00059887"	"00039"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046409"	"04210"	"00059917"	"00241"	"Unknown"	""	""	"00y07m"	"2.5y"	""	""	""	""	""	""	""	""	""
"0000046410"	"04210"	"00059918"	"00230"	"Familial, autosomal recessive"	""	"see paper for details"	""	""	""	""	""	""	""	""	""	""	""
"0000046411"	"04210"	"00059919"	"00230"	"Familial, autosomal recessive"	""	"for details see paper"	"<01y"	""	""	""	""	""	""	""	""	""	""
"0000046412"	"04210"	"00059920"	"00230"	"Familial, autosomal recessive"	""	"for details see paper"	"<01y"	""	""	""	""	""	""	""	""	""	""
"0000046413"	"04210"	"00059921"	"00230"	"Familial, autosomal recessive"	""	"for details see paper"	"<01y"	""	""	""	""	""	""	""	""	""	""
"0000046414"	"04210"	"00059922"	"00230"	"Familial, autosomal recessive"	""	"for details see paper"	"<01y"	""	""	""	""	""	""	""	""	""	""
"0000046418"	"04210"	"00059926"	"00243"	"Familial, autosomal recessive"	""	""	"00y00m"	"00y00m"	""	""	""	""	""	""	""	""	""
"0000046419"	"04210"	"00059927"	"00243"	"Familial, autosomal recessive"	""	""	"00y00m"	"00y00m"	""	""	""	""	""	""	""	""	""
"0000046647"	"02516"	"00060157"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046648"	"02516"	"00060158"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046649"	"02516"	"00060159"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046650"	"02516"	"00060160"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046651"	"02516"	"00060161"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046652"	"02516"	"00060162"	"01251"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046653"	"02516"	"00060163"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046654"	"02516"	"00060164"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046655"	"02516"	"00060165"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046656"	"02516"	"00060166"	"01251"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046657"	"02516"	"00060167"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046658"	"02516"	"00060168"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046659"	"02516"	"00060169"	"01251"	"Isolated (sporadic)"	""	""	"00y00m"	""	""	""	""	""	""	""	""	""	""
"0000046660"	"02516"	"00060170"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046661"	"02516"	"00060171"	"01251"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	""	""	""
"0000046662"	"02516"	"00060172"	"01251"	"Unknown"	""	""	"43y"	""	""	""	""	""	""	""	""	""	""
"0000046663"	"00198"	"00060173"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046692"	"04210"	"00060202"	"00230"	"Isolated (sporadic)"	""	"for details see paper"	"<01y"	""	""	""	""	""	""	""	""	""	""
"0000046693"	"04210"	"00060203"	"00230"	"Familial, autosomal recessive"	""	"for details see paper"	"<01y"	""	""	""	""	""	""	""	""	""	""
"0000050415"	"02516"	"00063827"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000074229"	"00381"	"00095952"	"01769"	"Familial, autosomal recessive"	""	"early onset RD, progressive"	""	""	""	""	""	""	""	""	""	""	""
"0000078311"	"00381"	"00100070"	"01769"	"Familial, autosomal recessive"	""	"early onset RD"	""	""	""	""	""	""	""	""	""	""	""
"0000127991"	"04210"	"00155491"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127992"	"04210"	"00155492"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127993"	"04210"	"00155493"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000234534"	"04214"	"00309214"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234535"	"04214"	"00309215"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234536"	"04214"	"00309216"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000235202"	"00198"	"00309885"	"01164"	"Unknown"	""	"Visual loss (HP:0000572); Cone/cone-rod dystrophy (HP:0000548)"	""	""	""	""	""	""	""	""	""	""	""
"0000245752"	"05412"	"00327463"	"03980"	"Familial, autosomal recessive"	"29y"	"Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)\r\n\r\nOcular coherence tomography (OCT): Atrophy of outer retina. Bruch\'s membrane is absent in the central fovea.\r\n\r\nElectroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)"	""	""	""	""	""	""	""	""	""	"Retinopathy"	""
"0000246174"	"04214"	"00327947"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246255"	"04214"	"00328028"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246368"	"04214"	"00328141"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000246472"	"04214"	"00328245"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250538"	"04214"	"00332352"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251547"	"04214"	"00333360"	"00000"	"Familial, autosomal dominant"	"54y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251551"	"04214"	"00333364"	"00000"	"Unknown"	"17y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251616"	"04214"	"00333429"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000252136"	"04214"	"00333951"	"00000"	"Familial, autosomal recessive"	"47y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000253932"	"04214"	"00358717"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254272"	"04214"	"00358974"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254363"	"04214"	"00359066"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000259044"	"04214"	"00363694"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267753"	"04214"	"00372438"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267754"	"04214"	"00372439"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267755"	"04214"	"00372440"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267756"	"04214"	"00372441"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267757"	"04214"	"00372442"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267814"	"04214"	"00372499"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000269108"	"04214"	"00373899"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270627"	"04214"	"00375413"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272224"	"04214"	"00377033"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000272225"	"04214"	"00377034"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000272226"	"04214"	"00377035"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273048"	"04214"	"00377902"	"00000"	"Isolated (sporadic)"	"4y"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273053"	"04214"	"00377907"	"00000"	"Isolated (sporadic)"	"4y5m"	"nystagmus, poor vision"	"2m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273698"	"04214"	"00379844"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa?"	""
"0000274886"	"04214"	"00381035"	"00000"	"Isolated (sporadic)"	"<1y"	"poor vision, nystagmus"	"2y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274888"	"04214"	"00381037"	"00000"	"Familial, autosomal recessive"	"<1y"	"poor vision, nystagmus"	"17y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275041"	"04214"	"00381190"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275491"	"04214"	"00381649"	"00000"	"Familial, autosomal recessive"	""	""	"28y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275496"	"04214"	"00381654"	"00000"	"Familial, autosomal recessive"	""	""	"1y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000276708"	"04214"	"00382852"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000277228"	"04214"	"00383443"	"00000"	"Familial, autosomal recessive"	""	""	"0y"	""	""	""	""	""	""	""	""	"Rod-cone dystrophy"	""
"0000277980"	"04214"	"00384195"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278061"	"04214"	"00384276"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000278120"	"04214"	"00384335"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000278151"	"04214"	"00384366"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Low vision"	""
"0000278797"	"04214"	"00385013"	"00000"	"Isolated (sporadic)"	"4y"	"nyctalopia, nystagmus, best corrected visual acuity right/left eye: NA"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278846"	"04214"	"00385062"	"00000"	"Isolated (sporadic)"	"5y"	"nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: LP/LP"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000279971"	"04214"	"00386168"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000281221"	"04214"	"00387658"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Childhood retinal disease"	""
"0000281222"	"04214"	"00387659"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Childhood retinal disease"	""
"0000281223"	"04214"	"00387660"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Childhood retinal disease"	""
"0000281224"	"04214"	"00387661"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Childhood retinal disease"	""
"0000282658"	"04214"	"00389117"	"00000"	"Familial, autosomal recessive"	"25y"	"age at genetic diagnosis mentioned"	""	"23y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282659"	"04214"	"00389118"	"00000"	"Familial, autosomal recessive"	"30y"	"age at genetic diagnosis mentioned"	""	"28y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000283404"	"04214"	"00389863"	"00000"	"Isolated (sporadic)"	"69y"	"age at genetic diagnosis mentioned"	""	"64y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283835"	"04214"	"00390297"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283836"	"04214"	"00390298"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283837"	"04214"	"00390299"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284913"	"04214"	"00391577"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000284981"	"04214"	"00391656"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284982"	"04214"	"00391657"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284983"	"04214"	"00391658"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/800:20/800"	"3m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000286648"	"04214"	"00393442"	"00000"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000298914"	"04214"	"00406427"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299330"	"04214"	"00406880"	"00000"	"Familial, autosomal recessive"	"30y"	"eye movement: pendular nystagmus, vitreous: opacity lefe eye, macula: staphyloma , white dots: equatorial, spiculation: peripheral and equatorial"	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299331"	"04214"	"00406881"	"00000"	"Familial, autosomal recessive"	"25y"	"eye movement: pendular nystagmus, vitreous: opacity right eye, macula: atrophy and pigment clumps, white dots: equatorial, spiculation: none"	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299332"	"04214"	"00406882"	"00000"	"Familial, autosomal recessive"	"21y"	"eye movement: pendular nystagmus, vitreous: opacity lefe eye, macula: atrophy, white dots: equatorial, spiculation: equatorial"	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299333"	"04214"	"00406883"	"00000"	"Familial, autosomal recessive"	"6y"	"eye movement: roving, vitreous: clear, macula: minimal atrophy, white dots: equatorial, spiculation: none"	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299334"	"04214"	"00406884"	"00000"	"Familial, autosomal recessive"	"2y"	"eye movement: roving, vitreous: clear, macula: not examined, white dots: not examined, spiculation: not examined"	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299387"	"04214"	"00406999"	"00000"	"Familial, autosomal recessive"	"6y"	"6y: best corrected visual acuity: light perception vision, hyperopia (+6.50 sphere), nystagmus, no corneal or lenticular opacities; fundus using NIR reflectance imaging: a distinctly demarcated dark central island surrounded by alternating elliptical regions of lighter and darker; the lighter regions in LCA5 P1 showed greater visibility of the choroid, suggesting depigmentation of retinal pigment epithelium; darker regions likely correspond to more preserved retinal pigment epithelium; provided further information on the retinal pigment epithelium with the use of melanosome-specific signals from the fundus; high intensity signal originates from the irregular-shaped central island, suggesting a preserved or hyperpigmented retinal pigment epithelium at this location; there was a region of lower intensity NIR-AF in the parafovea, and this likely corresponds to chorioretinal atrophic change; at greater eccentricities, there was an incremental increase; in the superotemporal and superonasal near midperiphery, there was a distinct boundary of a further increase in NIR-AF signal with a spatially homogeneous appearance, representing more retained and pigmented retinal pigment epithelium"	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299388"	"04214"	"00407000"	"00000"	"Familial, autosomal recessive"	"25y"	"6y: best corrected visual acuity right, left eye: 7/200, 20/400, 25y: light perception both eyes; high hyperopic refractive error (+10.00 sphere); nystagmus, no corneal or lenticular opacities, funduscopy: retina-wide granular-appearing pigmentary disturbances and optic disc drusen in both eyes; fundus using NIR reflectance imaging: a light appearance with visibility of the choroid, suggesting depigmentation of retinal pigment epithelium; NIR-AF: choroidal-appearing pattern; specifically there was no evidence of a central region of hyperautofluorescence or peripheral boundary to a relatively increased signal, evident optic disc drusen, hyperautofluorescence under NIR excitation; kinetic perimetry: only a central island of perception in each eye of roughly 2���3 degrees in diameter using an achromatic target (size V, but 1 log unit brighter than the kinetic perimeter 4e) in the dark-adapted state, thresholds were elevated by >5.5 l"	"6m"	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299471"	"04214"	"00407084"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299472"	"04214"	"00407085"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299474"	"04214"	"00407087"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299475"	"04214"	"00407088"	"00000"	"Familial, autosomal recessive"	"30y"	"best corrected visual acuity right, left eye: 20/200, 20/200, color vision test: dyschromatopsia, visual-evoked potentials: pathologic - low amplitude of P100 wave, enlarged latency (implicit time), electroretinogram: photopic: diminished, scotopic: slightly reduced, visual field: diffused loss of central vision; no nyctalopia"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000299476"	"04214"	"00407089"	"00000"	"Familial, autosomal recessive"	"13y"	"best corrected visual acuity right, left eye: 20/200, 20/200, color vision test: dyschromatopsia, visual-evoked potentials: pathologic - low amplitude of P100 wave, enlarged latency (implicit time), electroretinogram: photopic: diminished, scotopic: reduced, visual field: central scotoma; no nyctalopia"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""	""
"0000300323"	"04214"	"00408193"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300324"	"04214"	"00408194"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300325"	"04214"	"00408195"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300326"	"04214"	"00408196"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300327"	"04214"	"00408197"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300328"	"04214"	"00408198"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300329"	"04214"	"00408199"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300980"	"04214"	"00408862"	"00000"	"Familial, autosomal recessive"	""	"severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6 months. Retinal vessels were attenuated, hyperopic."	""	"5m"	"rotatory nystagmus, normal anterior segments, and weak pupillary reaction to light."	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000320544"	"00112"	"00429672"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320586"	"00112"	"00429714"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320831"	"04214"	"00429959"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320953"	"04210"	"00430081"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320954"	"04210"	"00430082"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336920"	"00198"	"00447721"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 175
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000059776"	"00059789"	"1"	"00039"	"00039"	"2012-09-19 09:27:23"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000059822"	"00059835"	"1"	"01251"	"00231"	"2012-03-21 12:03:41"	""	""	"?"	"DNA"	""	""
"0000059823"	"00059836"	"1"	"01251"	"00231"	"2012-03-21 12:03:41"	""	""	"?"	"DNA"	""	""
"0000059824"	"00059837"	"1"	"01251"	"00231"	"2012-03-21 12:03:41"	""	""	"?"	"DNA"	""	""
"0000059825"	"00059838"	"1"	"01251"	"00231"	"2012-03-21 12:03:41"	""	""	"?"	"DNA"	""	""
"0000059826"	"00059839"	"1"	"01251"	"00231"	"2012-03-21 11:49:01"	""	""	"?"	"DNA"	""	""
"0000059827"	"00059840"	"1"	"01251"	"00231"	"2012-03-21 11:50:25"	""	""	"?"	"DNA"	""	""
"0000059828"	"00059841"	"1"	"01251"	"00231"	"2012-03-21 11:50:25"	""	""	"?"	"DNA"	""	""
"0000059829"	"00059842"	"1"	"01251"	"00231"	"2012-03-21 11:50:25"	""	""	"?"	"DNA"	""	""
"0000059830"	"00059843"	"1"	"01251"	"00231"	"2012-03-21 11:50:25"	""	""	"?"	"DNA"	""	""
"0000059831"	"00059844"	"1"	"01251"	"00231"	"2012-03-21 11:50:25"	""	""	"?"	"DNA"	""	""
"0000059832"	"00059845"	"1"	"01251"	"00231"	"2012-03-21 11:55:49"	""	""	"?"	"DNA"	""	""
"0000059833"	"00059846"	"1"	"01251"	"00231"	"2012-03-21 11:59:24"	""	""	"?"	"DNA"	""	""
"0000059834"	"00059847"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059835"	"00059848"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059836"	"00059849"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059837"	"00059850"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059838"	"00059851"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059839"	"00059852"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059840"	"00059853"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059841"	"00059854"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059842"	"00059855"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059843"	"00059856"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059844"	"00059857"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059845"	"00059858"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059846"	"00059859"	"1"	"01251"	"00231"	"2012-03-21 11:37:56"	""	""	"?"	"DNA"	""	""
"0000059847"	"00059860"	"1"	"01251"	"00231"	"2012-03-21 11:40:37"	""	""	"?"	"DNA"	""	""
"0000059848"	"00059861"	"1"	"01251"	"00231"	"2012-03-21 11:43:44"	""	""	"?"	"DNA"	""	""
"0000059849"	"00059862"	"1"	"01251"	"00231"	"2012-03-21 11:46:33"	""	""	"SEQ"	"DNA"	""	""
"0000059850"	"00059863"	"1"	"01251"	"00231"	"2012-03-21 11:46:33"	""	""	"SEQ"	"DNA"	""	""
"0000059851"	"00059864"	"1"	"01251"	"00231"	"2012-05-14 10:27:57"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059852"	"00059865"	"1"	"01251"	"00231"	"2012-05-14 11:29:56"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059853"	"00059866"	"1"	"01251"	"00231"	"2012-05-14 11:41:46"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059854"	"00059867"	"1"	"01251"	"00231"	"2012-05-14 12:05:52"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059855"	"00059868"	"1"	"01251"	"00231"	"2012-05-14 12:10:34"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059856"	"00059869"	"1"	"01251"	"00231"	"2012-05-14 12:12:20"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059857"	"00059870"	"1"	"01251"	"00231"	"2012-05-14 12:13:57"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059858"	"00059871"	"1"	"01251"	"00231"	"2012-05-14 12:23:51"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059859"	"00059872"	"1"	"01251"	"01251"	"2013-01-25 14:37:27"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059860"	"00059873"	"1"	"01251"	"01251"	"2013-01-25 14:38:38"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059861"	"00059874"	"1"	"01251"	"01251"	"2013-01-25 14:41:27"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059862"	"00059875"	"1"	"01251"	"01251"	"2013-01-25 14:45:04"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059863"	"00059876"	"1"	"01251"	"01251"	"2013-01-25 14:46:01"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059864"	"00059877"	"1"	"01251"	"01251"	"2013-01-25 14:47:03"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059866"	"00059879"	"1"	"01251"	"01251"	"2013-01-25 14:51:09"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059867"	"00059880"	"1"	"01251"	"01251"	"2013-01-25 14:57:12"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059868"	"00059881"	"1"	"01251"	"01251"	"2013-01-25 15:33:41"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059869"	"00059882"	"1"	"01251"	"01251"	"2013-01-25 15:34:32"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000059870"	"00059883"	"1"	"01251"	"01251"	"2013-01-25 15:50:42"	""	""	"?"	"DNA"	""	""
"0000059871"	"00059884"	"1"	"01251"	"01251"	"2013-01-25 15:51:40"	""	""	"?"	"DNA"	""	""
"0000059872"	"00059885"	"1"	"01251"	"01251"	"2013-01-25 15:52:40"	""	""	"?"	"DNA"	""	""
"0000059873"	"00059886"	"1"	"00039"	"00039"	"2013-01-29 14:35:09"	""	""	"SEQ"	"DNA"	""	""
"0000059874"	"00059887"	"1"	"00039"	"00039"	"2013-01-29 14:53:04"	""	""	"SEQ"	"DNA"	""	""
"0000059904"	"00059917"	"1"	"00241"	"00241"	"2013-04-24 16:03:05"	""	""	"SEQ"	"DNA"	""	""
"0000059905"	"00059918"	"1"	"00230"	"00230"	"2013-06-02 13:12:30"	""	""	"SEQ"	"DNA"	""	""
"0000059906"	"00059919"	"1"	"00230"	"00230"	"2013-06-02 13:22:51"	""	""	"SEQ"	"DNA"	""	""
"0000059907"	"00059920"	"1"	"00230"	"00230"	"2013-06-02 13:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000059908"	"00059921"	"1"	"00230"	"00230"	"2013-06-02 13:57:04"	""	""	"SEQ"	"DNA"	""	""
"0000059909"	"00059922"	"1"	"00230"	"00230"	"2013-06-02 14:02:15"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000059913"	"00059926"	"1"	"00243"	"00243"	"2015-02-19 11:55:14"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000059914"	"00059927"	"1"	"00243"	"00243"	"2015-02-19 12:28:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000060144"	"00060157"	"1"	"01251"	"00231"	"2012-03-21 12:08:21"	""	""	"?"	"DNA"	""	""
"0000060145"	"00060158"	"1"	"01251"	"00231"	"2012-05-14 10:24:49"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060146"	"00060159"	"1"	"01251"	"00231"	"2012-05-14 11:34:05"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060147"	"00060160"	"1"	"01251"	"00231"	"2012-05-14 12:17:23"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060148"	"00060161"	"1"	"01251"	"00231"	"2012-05-14 12:21:32"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060149"	"00060162"	"1"	"01251"	"00231"	"2012-05-14 12:25:44"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060150"	"00060163"	"1"	"01251"	"01251"	"2013-01-25 14:24:59"	""	""	"?"	"DNA"	""	""
"0000060151"	"00060164"	"1"	"01251"	"01251"	"2013-01-25 14:27:29"	""	""	"?"	"DNA"	""	""
"0000060152"	"00060165"	"1"	"01251"	"01251"	"2013-01-25 14:35:00"	""	""	"?"	"DNA"	""	""
"0000060153"	"00060166"	"1"	"01251"	"01251"	"2013-01-25 14:40:18"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060154"	"00060167"	"1"	"01251"	"01251"	"2013-01-25 14:43:55"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060155"	"00060168"	"1"	"01251"	"01251"	"2013-01-25 14:50:08"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060156"	"00060169"	"1"	"01251"	"01251"	"2013-01-25 14:53:00"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060157"	"00060170"	"1"	"01251"	"01251"	"2013-01-25 14:53:59"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060158"	"00060171"	"1"	"01251"	"01251"	"2013-01-25 14:54:54"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060159"	"00060172"	"1"	"01251"	"01251"	"2013-01-25 14:56:21"	"00006"	"2017-07-21 10:14:00"	"?"	"DNA"	""	""
"0000060160"	"00060173"	"1"	"00006"	"00006"	"2013-01-26 10:13:02"	""	""	"SEQ"	"DNA"	""	""
"0000060189"	"00060202"	"1"	"00230"	"00230"	"2013-06-02 13:30:49"	""	""	"SEQ"	"DNA"	""	""
"0000060190"	"00060203"	"1"	"00230"	"00230"	"2013-06-02 13:51:34"	""	""	"SEQ"	"DNA"	""	""
"0000063958"	"00063827"	"1"	"00006"	"00006"	"2016-04-16 18:28:28"	""	""	"SEQ"	"DNA"	""	""
"0000096355"	"00095952"	"1"	"01769"	"01769"	"2017-01-26 22:09:38"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100473"	"00100070"	"1"	"01769"	"01769"	"2017-01-30 15:28:27"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000156356"	"00155491"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156357"	"00155492"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156358"	"00155493"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000295377"	"00294209"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310359"	"00309214"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310360"	"00309215"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310361"	"00309216"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000311029"	"00309885"	"1"	"01164"	"01164"	"2020-09-04 17:23:02"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000328676"	"00327463"	"1"	"03980"	"03980"	"2021-01-21 22:19:35"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329162"	"00327947"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329243"	"00328028"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329356"	"00328141"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329460"	"00328245"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000333575"	"00332352"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000334585"	"00333360"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334589"	"00333364"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334654"	"00333429"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000335177"	"00333951"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000359947"	"00358717"	"1"	"00000"	"00006"	"2021-03-11 13:59:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360211"	"00358974"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360304"	"00359066"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000364922"	"00363694"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373671"	"00372438"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373672"	"00372439"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373673"	"00372440"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373674"	"00372441"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373675"	"00372442"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373732"	"00372499"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000375131"	"00373899"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376610"	"00375413"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378238"	"00377033"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000378239"	"00377034"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000378240"	"00377035"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000379106"	"00377902"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379111"	"00377907"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000381046"	"00379844"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000382249"	"00381035"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382251"	"00381037"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382405"	"00381190"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382865"	"00381649"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382870"	"00381654"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000384068"	"00382852"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"SEQ"	"DNA"	""	""
"0000384668"	"00383443"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000385420"	"00384195"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385501"	"00384276"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385560"	"00384335"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385591"	"00384366"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386242"	"00385013"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386291"	"00385062"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted next-generation sequencing/Sanger sequencing"
"0000387397"	"00386168"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388884"	"00387658"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388885"	"00387659"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388886"	"00387660"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388887"	"00387661"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390360"	"00389117"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390361"	"00389118"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391106"	"00389863"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391538"	"00390297"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391539"	"00390298"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391540"	"00390299"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392819"	"00391577"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392897"	"00391656"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392898"	"00391657"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392899"	"00391658"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000394690"	"00393442"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000407669"	"00406427"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000408127"	"00406880"	"1"	"00000"	"03840"	"2022-04-05 15:12:11"	""	""	"STR"	"DNA"	""	""
"0000408128"	"00406881"	"1"	"00000"	"03840"	"2022-04-05 15:12:11"	""	""	"STR"	"DNA"	""	""
"0000408129"	"00406882"	"1"	"00000"	"03840"	"2022-04-05 15:12:11"	""	""	"STR"	"DNA"	""	""
"0000408130"	"00406883"	"1"	"00000"	"03840"	"2022-04-05 15:12:11"	""	""	"STR"	"DNA"	""	""
"0000408131"	"00406884"	"1"	"00000"	"03840"	"2022-04-05 15:12:11"	""	""	"STR"	"DNA"	""	""
"0000408246"	"00406999"	"1"	"00000"	"03840"	"2022-04-05 17:42:08"	""	""	"STR"	"DNA"	""	""
"0000408247"	"00407000"	"1"	"00000"	"03840"	"2022-04-05 17:42:08"	""	""	"STR"	"DNA"	""	""
"0000408331"	"00407084"	"1"	"00000"	"03840"	"2022-04-05 22:05:22"	""	""	"?"	"DNA"	""	""
"0000408332"	"00407085"	"1"	"00000"	"03840"	"2022-04-05 22:17:27"	""	""	"?"	"DNA"	""	""
"0000408334"	"00407087"	"1"	"00000"	"03840"	"2022-04-06 10:25:07"	""	""	"SEQ-NG"	"DNA"	""	""
"0000408335"	"00407088"	"1"	"00000"	"03840"	"2022-04-06 10:55:02"	""	""	"SEQ-NG"	"DNA"	""	""
"0000408336"	"00407089"	"1"	"00000"	"03840"	"2022-04-06 10:55:02"	""	""	"SEQ-NG"	"DNA"	""	""
"0000409448"	"00408193"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000409449"	"00408194"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000409450"	"00408195"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000409451"	"00408196"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000409452"	"00408197"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000409453"	"00408198"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000409454"	"00408199"	"1"	"00000"	"03840"	"2022-04-17 15:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000410127"	"00408862"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"Whole exome sequencing"
"0000431085"	"00429672"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431127"	"00429714"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431372"	"00429959"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431494"	"00430081"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431495"	"00430082"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000449298"	"00447721"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 167
"{{screeningid}}"	"{{geneid}}"
"0000059776"	"LCA5"
"0000059822"	"LCA5"
"0000059823"	"LCA5"
"0000059824"	"LCA5"
"0000059825"	"LCA5"
"0000059826"	"LCA5"
"0000059827"	"LCA5"
"0000059828"	"LCA5"
"0000059829"	"LCA5"
"0000059830"	"LCA5"
"0000059831"	"LCA5"
"0000059832"	"LCA5"
"0000059833"	"LCA5"
"0000059834"	"LCA5"
"0000059835"	"LCA5"
"0000059836"	"LCA5"
"0000059837"	"LCA5"
"0000059838"	"LCA5"
"0000059839"	"LCA5"
"0000059840"	"LCA5"
"0000059841"	"LCA5"
"0000059842"	"LCA5"
"0000059843"	"LCA5"
"0000059844"	"LCA5"
"0000059845"	"LCA5"
"0000059846"	"LCA5"
"0000059847"	"LCA5"
"0000059848"	"LCA5"
"0000059849"	"LCA5"
"0000059850"	"LCA5"
"0000059851"	"LCA5"
"0000059852"	"LCA5"
"0000059853"	"LCA5"
"0000059854"	"LCA5"
"0000059855"	"LCA5"
"0000059856"	"LCA5"
"0000059857"	"LCA5"
"0000059858"	"LCA5"
"0000059859"	"LCA5"
"0000059860"	"LCA5"
"0000059861"	"LCA5"
"0000059862"	"LCA5"
"0000059863"	"LCA5"
"0000059864"	"LCA5"
"0000059866"	"LCA5"
"0000059867"	"LCA5"
"0000059868"	"LCA5"
"0000059869"	"LCA5"
"0000059870"	"LCA5"
"0000059871"	"LCA5"
"0000059872"	"LCA5"
"0000059873"	"LCA5"
"0000059874"	"LCA5"
"0000059904"	"LCA5"
"0000059905"	"LCA5"
"0000059906"	"LCA5"
"0000059907"	"LCA5"
"0000059908"	"LCA5"
"0000059909"	"LCA5"
"0000059913"	"LCA5"
"0000059914"	"LCA5"
"0000060144"	"LCA5"
"0000060145"	"LCA5"
"0000060146"	"LCA5"
"0000060147"	"LCA5"
"0000060148"	"LCA5"
"0000060149"	"LCA5"
"0000060150"	"LCA5"
"0000060151"	"LCA5"
"0000060152"	"LCA5"
"0000060153"	"LCA5"
"0000060154"	"LCA5"
"0000060155"	"LCA5"
"0000060156"	"LCA5"
"0000060157"	"LCA5"
"0000060158"	"LCA5"
"0000060159"	"LCA5"
"0000060160"	"LCA5"
"0000060189"	"LCA5"
"0000060190"	"LCA5"
"0000063958"	"LCA5"
"0000096355"	"LCA5"
"0000100473"	"LCA5"
"0000156356"	"LCA5"
"0000156357"	"LCA5"
"0000156358"	"LCA5"
"0000310359"	"LCA5"
"0000310360"	"LCA5"
"0000310361"	"LCA5"
"0000329162"	"LCA5"
"0000329243"	"LCA5"
"0000329356"	"LCA5"
"0000329460"	"LCA5"
"0000333575"	"LCA5"
"0000334585"	"NR2E3"
"0000335177"	"LCA5"
"0000359947"	"LCA5"
"0000364922"	"LCA5"
"0000373671"	"LCA5"
"0000373672"	"LCA5"
"0000373673"	"LCA5"
"0000373674"	"LCA5"
"0000373675"	"LCA5"
"0000373732"	"ALMS1"
"0000373732"	"LCA5"
"0000375131"	"LCA5"
"0000378238"	"LCA5"
"0000378239"	"LCA5"
"0000378240"	"LCA5"
"0000379106"	"LCA5"
"0000379111"	"CRB1"
"0000381046"	"LCA5"
"0000382249"	"RPE65"
"0000382251"	"LCA5"
"0000382405"	"LCA5"
"0000382865"	"RPE65"
"0000382870"	"LCA5"
"0000384068"	"LCA5"
"0000384668"	"LCA5"
"0000385420"	"LCA5"
"0000385501"	"LCA5"
"0000385560"	"LCA5"
"0000385591"	"LCA5"
"0000386242"	"LCA5"
"0000386291"	"LCA5"
"0000387397"	"ADAMTS18"
"0000388884"	"LCA5"
"0000388885"	"LCA5"
"0000388886"	"LCA5"
"0000388887"	"LCA5"
"0000390360"	"LCA5"
"0000390361"	"LCA5"
"0000391106"	"LCA5"
"0000391538"	"LCA5"
"0000391539"	"LCA5"
"0000391540"	"LCA5"
"0000392819"	"LCA5"
"0000392897"	"LCA5"
"0000392898"	"LCA5"
"0000392899"	"LCA5"
"0000394690"	"LCA5"
"0000407669"	"LCA5"
"0000408127"	"LCA5"
"0000408128"	"LCA5"
"0000408129"	"LCA5"
"0000408130"	"LCA5"
"0000408131"	"LCA5"
"0000408246"	"LCA5"
"0000408247"	"LCA5"
"0000408331"	"LCA5"
"0000408332"	"LCA5"
"0000408334"	"LCA5"
"0000408335"	"LCA5"
"0000408336"	"LCA5"
"0000409448"	"LCA5"
"0000409449"	"LCA5"
"0000409450"	"LCA5"
"0000409451"	"LCA5"
"0000409452"	"LCA5"
"0000409453"	"LCA5"
"0000409454"	"LCA5"
"0000410127"	"NMNAT1"
"0000431085"	"LCA5"
"0000431127"	"LCA5"
"0000431372"	"LCA5"
"0000431494"	"LCA5"
"0000431495"	"LCA5"


## 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 = 230
"{{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}}"
"0000090892"	"3"	"90"	"6"	"80223395"	"80223395"	"del"	"0"	"00039"	"LCA5_000001"	"g.80223395del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513678del"	""	"pathogenic"	""
"0000091014"	"3"	"70"	"6"	"80223007"	"80223007"	"del"	"0"	"01251"	"LCA5_000009"	"g.80223007del"	""	"{PMID:Ahmad 2011:21850168}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513290del"	""	"likely pathogenic"	""
"0000091015"	"3"	"70"	"6"	"80223007"	"80223007"	"del"	"0"	"01251"	"LCA5_000009"	"g.80223007del"	""	"{PMID:Ahmad 2011:21850168}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513290del"	""	"likely pathogenic"	""
"0000091016"	"3"	"70"	"6"	"80223007"	"80223007"	"del"	"0"	"01251"	"LCA5_000009"	"g.80223007del"	""	"{PMID:Ahmad 2011:21850168}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513290del"	""	"likely pathogenic"	""
"0000091017"	"3"	"70"	"6"	"80223007"	"80223007"	"del"	"0"	"01251"	"LCA5_000009"	"g.80223007del"	""	"{PMID:Ahmad 2011:21850168}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513290del"	""	"likely pathogenic"	""
"0000091018"	"3"	"70"	"6"	"80228509"	"80228509"	"subst"	"8.1248E-6"	"01251"	"LCA5_000005"	"g.80228509G>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79518792G>A"	""	"likely pathogenic"	""
"0000091019"	"3"	"70"	"6"	"80223039"	"80223039"	"subst"	"0"	"01251"	"LCA5_000006"	"g.80223039G>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513322G>A"	""	"likely pathogenic"	""
"0000091020"	"3"	"70"	"6"	"80223039"	"80223039"	"subst"	"0"	"01251"	"LCA5_000006"	"g.80223039G>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513322G>A"	""	"likely pathogenic"	""
"0000091021"	"3"	"70"	"6"	"80223039"	"80223039"	"subst"	"0"	"01251"	"LCA5_000006"	"g.80223039G>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513322G>A"	""	"likely pathogenic"	""
"0000091022"	"3"	"70"	"6"	"80223039"	"80223039"	"subst"	"0"	"01251"	"LCA5_000006"	"g.80223039G>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513322G>A"	""	"likely pathogenic"	""
"0000091023"	"3"	"70"	"6"	"80223039"	"80223039"	"subst"	"0"	"01251"	"LCA5_000006"	"g.80223039G>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513322G>A"	""	"likely pathogenic"	""
"0000091024"	"3"	"70"	"6"	"80198846"	"80198846"	"subst"	"0"	"01251"	"LCA5_000007"	"g.80198846C>A"	""	"{PMID:Gerber 2007:18000884}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489129C>A"	""	"likely pathogenic"	""
"0000091025"	"0"	"30"	"6"	"80197499"	"80197499"	"subst"	"1.2287E-5"	"01251"	"LCA5_000010"	"g.80197499C>T"	""	"{PMID:Wiszniewski 2010:21153841}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79487782C>T"	""	"likely benign"	""
"0000091026"	"3"	"70"	"6"	"80202268"	"80202268"	"subst"	"0"	"01251"	"LCA5_000008"	"g.80202268C>T"	""	"{PMID:Ramprasad 2008:18334959}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79492551C>T"	""	"likely pathogenic"	""
"0000091027"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091028"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091029"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091030"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091031"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091032"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091033"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091034"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091035"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091036"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091037"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091038"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091039"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091040"	"3"	"70"	"6"	"80197339"	"80197339"	"dup"	"0"	"01251"	"LCA5_000002"	"g.80197339dup"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0002}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79487622dup"	""	"likely pathogenic"	""
"0000091041"	"3"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0003}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091042"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"01251"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:Hollander 2007:17546029}, {OMIM611408:0004}"	""	"g.[-19612_-18015]del1598"	""	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000091043"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"01251"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:den Hollander 2007:17546029}, {OMIM611408:0004}"	""	"g.[-19612_-18015]del1598"	""	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000091045"	"21"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091046"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091047"	"3"	"70"	"6"	"80223012"	"80223018"	"del"	"0"	"01251"	"LCA5_000012"	"g.80223012_80223018del"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79513295_79513301del"	""	"likely pathogenic"	""
"0000091048"	"2"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091049"	"1"	"70"	"6"	"80228609"	"80228609"	"subst"	"0"	"01251"	"LCA5_000013"	"g.80228609C>T"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	"Met1Ile"	""	"Germline"	""	""	"0"	""	""	"g.79518892C>T"	""	"likely pathogenic"	""
"0000091050"	"3"	"70"	"6"	"80197139"	"80197139"	"subst"	"0"	"01251"	"LCA5_000014"	"g.80197139G>T"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487422G>T"	""	"likely pathogenic"	""
"0000091051"	"3"	"70"	"6"	"80198799"	"80198799"	"dup"	"0"	"01251"	"LCA5_000000"	"g.80198799dup"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	"1231+2insT"	""	"Germline"	""	""	"0"	""	""	"g.79489082dup"	""	"likely pathogenic"	""
"0000091052"	"3"	"70"	"6"	"80228470"	"80228470"	"subst"	"0"	"01251"	"LCA5_000016"	"g.80228470T>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79518753T>A"	""	"likely pathogenic"	""
"0000091053"	"3"	"70"	"6"	"80228470"	"80228470"	"subst"	"0"	"01251"	"LCA5_000016"	"g.80228470T>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79518753T>A"	""	"likely pathogenic"	""
"0000091054"	"3"	"70"	"6"	"80197371"	"80197372"	"delins"	"0"	"01251"	"LCA5_000017"	"g.80197371_80197372delinsT"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487654_79487655delinsT"	""	"likely pathogenic"	""
"0000091055"	"1"	"70"	"6"	"80197090"	"80197090"	"dup"	"0"	"01251"	"LCA5_000018"	"g.80197090dup"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	"no variant found on other allele"	"Germline"	""	""	"0"	""	""	"g.79487373dup"	""	"likely pathogenic"	""
"0000091056"	"2"	"70"	"6"	"80197055"	"80197056"	"ins"	"0"	"01251"	"LCA5_000020"	"g.80197055_80197056insCT"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487338_79487339insCT"	""	"likely pathogenic"	""
"0000091057"	"1"	"70"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"01251"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493676A>C"	""	"likely pathogenic"	""
"0000091058"	"3"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091059"	"2"	"70"	"6"	"80198825"	"80198825"	"subst"	"0"	"01251"	"LCA5_000022"	"g.80198825G>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79489108G>A"	""	"likely pathogenic"	""
"0000091060"	"1"	"70"	"6"	"80228574"	"80228577"	"del"	"0"	"01251"	"LCA5_000021"	"g.80228574_80228577del"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	"42_45delAAAG"	""	"Germline"	""	""	"0"	""	""	"g.79518857_79518860del"	""	"likely pathogenic"	""
"0000091061"	"1"	"70"	"6"	"80196996"	"80196997"	"del"	"0"	"01251"	"LCA5_000023"	"g.80196996_80196997del"	""	""	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79487279_79487280del"	""	"likely pathogenic"	""
"0000091062"	"1"	"77"	"6"	"80223015"	"80223015"	"subst"	"8.12975E-6"	"01251"	"LCA5_000024"	"g.80223015C>A"	""	""	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79513298C>A"	""	"likely pathogenic"	""
"0000091064"	"1"	"77"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:den Hollander 2007:17546029}, {PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091065"	"3"	"77"	"6"	"80198883"	"80198883"	"del"	"0"	"01251"	"LCA5_000001"	"g.80198883del"	""	"{PMID:den Hollander 2007:17546029}, {PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000091066"	"3"	"77"	"6"	"80223012"	"80223018"	"del"	"0"	"01251"	"LCA5_000012"	"g.80223012_80223018del"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79513295_79513301del"	""	"likely pathogenic"	""
"0000091067"	"2"	"77"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091068"	"1"	"77"	"6"	"80228609"	"80228609"	"subst"	"0"	"01251"	"LCA5_000013"	"g.80228609C>T"	""	"{PMID:den Hollander 2007:17546029} {PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79518892C>T"	""	"likely pathogenic"	""
"0000091069"	"3"	"77"	"6"	"80197139"	"80197139"	"subst"	"0"	"01251"	"LCA5_000014"	"g.80197139G>T"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79487422G>T"	""	"likely pathogenic"	""
"0000091070"	"2"	"77"	"6"	"80197059"	"80197059"	"subst"	"8.15016E-6"	"01251"	"LCA5_000011"	"g.80197059T>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487342T>A"	""	"likely pathogenic"	""
"0000091071"	"1"	"77"	"6"	"80223282"	"80223282"	"subst"	"0"	"01251"	"LCA5_000025"	"g.80223282G>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79513565G>A"	""	"likely pathogenic"	""
"0000091072"	"3"	"77"	"6"	"80198799"	"80198799"	"dup"	"0"	"01251"	"LCA5_000026"	"g.80198799dup"	""	"{PMID:Mackay 2013:23946133}"	""	"1231+2insT"	""	"Unknown"	"?"	""	"0"	""	""	"g.79489082dup"	""	"likely pathogenic"	""
"0000091073"	"3"	"77"	"6"	"80228470"	"80228470"	"subst"	"0"	"01251"	"LCA5_000016"	"g.80228470T>A"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79518753T>A"	""	"likely pathogenic"	""
"0000091074"	"3"	"77"	"6"	"80228470"	"80228470"	"subst"	"0"	"01251"	"LCA5_000016"	"g.80228470T>A"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79518753T>A"	""	"likely pathogenic"	""
"0000091076"	"2"	"77"	"6"	"80197055"	"80197056"	"ins"	"0"	"01251"	"LCA5_000020"	"g.80197055_80197056insCT"	""	""	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79487338_79487339insCT"	""	"likely pathogenic"	""
"0000091077"	"1"	"77"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"01251"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79493676A>C"	""	"likely pathogenic"	""
"0000091078"	"3"	"77"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091079"	"2"	"77"	"6"	"80198825"	"80198825"	"subst"	"0"	"01251"	"LCA5_000022"	"g.80198825G>A"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79489108G>A"	""	"likely pathogenic"	""
"0000091080"	"1"	"77"	"6"	"80228574"	"80228577"	"del"	"0"	"01251"	"LCA5_000028"	"g.80228574_80228577del"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79518857_79518860del"	""	"likely pathogenic"	""
"0000091081"	"1"	"77"	"6"	"80197090"	"80197090"	"dup"	"0"	"01251"	"LCA5_000018"	"g.80197090dup"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79487373dup"	""	"likely pathogenic"	""
"0000091082"	"1"	"77"	"6"	"80196804"	"80196804"	"subst"	"0"	"01251"	"LCA5_000029"	"g.80196804G>A"	""	"{PMID:Mackay 2013:23946133}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79487087G>A"	""	"likely pathogenic"	""
"0000091083"	"2"	"77"	"6"	"80223158"	"80223158"	"subst"	"9.36619E-5"	"01251"	"LCA5_000031"	"g.80223158T>C"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79513441T>C"	""	"likely pathogenic"	""
"0000091084"	"1"	"77"	"6"	"80228543"	"80228543"	"subst"	"0"	"01251"	"LCA5_000030"	"g.80228543G>C"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79518826G>C"	""	"likely pathogenic"	""
"0000091085"	"3"	"77"	"6"	"80223200"	"80223210"	"dup"	"0"	"01251"	"LCA5_000032"	"g.80223200_80223210dup"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79513483_79513493dup"	""	"likely pathogenic"	""
"0000091086"	"3"	"77"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"Jacobson 2009"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091087"	"3"	"77"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"01251"	"LCA5_000003"	"g.80203353G>A"	""	"Jacobson 2009"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000091088"	"3"	"77"	"6"	"80223395"	"80223395"	"del"	"0"	"01251"	"LCA5_000033"	"g.80223395del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513678del"	""	"likely pathogenic"	""
"0000091089"	"3"	"77"	"6"	"80223395"	"80223395"	"del"	"0"	"01251"	"LCA5_000033"	"g.80223395del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513678del"	""	"likely pathogenic"	""
"0000091090"	"3"	"77"	"6"	"80223395"	"80223395"	"del"	"0"	"01251"	"LCA5_000033"	"g.80223395del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513678del"	""	"likely pathogenic"	""
"0000091091"	"0"	"50"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"00006"	"LCA5_000003"	"g.80203353G>A"	""	""	""	""	""	"Germline"	""	"rs121918165"	"0"	""	""	"g.79493636G>A"	""	"VUS"	""
"0000091092"	"3"	"99"	"6"	"80223259"	"80223259"	"del"	"0"	"00039"	"LCA5_000034"	"g.80223259del"	""	"{PMID:Vallespin 2010:21488265}"	""	"828delA"	"Contact: Carmen Ayuso: CAyuso@fjd.es"	"Germline"	"yes"	""	"0"	""	""	"g.79513542del"	""	"pathogenic"	""
"0000091093"	"3"	"97"	"6"	"80223045"	"80223045"	"subst"	"0"	"00039"	"LCA5_000035"	"g.80223045A>G"	""	"{PMID:Vallespin 2010:21488265}"	""	"1039T>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.79513328A>G"	""	"pathogenic"	""
"0000091152"	"3"	"90"	"6"	"80197554"	"80197554"	"subst"	"4.21063E-6"	"00241"	"LCA5_000036"	"g.80197554G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487837G>A"	""	"pathogenic"	""
"0000091153"	"3"	"90"	"6"	"80228468"	"80228468"	"del"	"0"	"00230"	"LCA5_000037"	"g.80228468del"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79518751del"	""	"pathogenic"	""
"0000091154"	"3"	"90"	"6"	"80223259"	"80223259"	"del"	"0"	"00230"	"LCA5_000034"	"g.80223259del"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513542del"	""	"pathogenic"	""
"0000091155"	"1"	"50"	"6"	"80197397"	"80197397"	"subst"	"1.22048E-5"	"00230"	"LCA5_000038"	"g.80197397T>G"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	"predicted to affected function, unknown second allele; not found in 100 controls"	"Germline"	"?"	""	"0"	""	""	"g.79487680T>G"	""	"VUS"	""
"0000091156"	"3"	"90"	"6"	"80223045"	"80223045"	"subst"	"0"	"00230"	"LCA5_000035"	"g.80223045A>G"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	"predicted to affect function, not in 100 controls"	"Germline"	"yes"	""	"0"	""	""	"g.79513328A>G"	""	"pathogenic"	""
"0000091157"	"21"	"90"	"6"	"80223045"	"80223045"	"subst"	"0"	"00230"	"LCA5_000035"	"g.80223045A>G"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	"predicted to affect function; not in 100 controls"	"Germline"	"yes"	""	"0"	""	""	"g.79513328A>G"	""	"pathogenic"	""
"0000091158"	"11"	"90"	"6"	"80228509"	"80228509"	"subst"	"8.1248E-6"	"00230"	"LCA5_000005"	"g.80228509G>A"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79518792G>A"	""	"pathogenic"	""
"0000091159"	"3"	"90"	"6"	"80202268"	"80202268"	"subst"	"0"	"00230"	"LCA5_000008"	"g.80202268C>T"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79492551C>T"	""	"pathogenic"	""
"0000091160"	"3"	"90"	"6"	"80222928"	"80222928"	"subst"	"0"	"00230"	"LCA5_000039"	"g.80222928C>T"	""	"{PMID:Corton 2014:24144451}, {DOI:Corton 2014:10.1016/j.ophtha.2013.08.028}"	""	""	"no mRNA detected"	"Germline"	"yes"	""	"0"	""	""	"g.79513211C>T"	""	"pathogenic"	""
"0000091178"	"3"	"70"	"6"	"80197394"	"80197394"	"del"	"0"	"00243"	"LCA5_000040"	"g.80197394del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79487677del"	""	"likely pathogenic"	""
"0000091179"	"3"	"70"	"6"	"80203350"	"80203350"	"subst"	"0"	"00243"	"LCA5_000041"	"g.80203350G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79493633G>A"	""	"likely pathogenic"	""
"0000094914"	"3"	"99"	"6"	"80198883"	"80198883"	"del"	"0"	"00006"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Mackay 2013:23946133}, {DOI:Mackay 2013:10.1002/humu.22398}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79489166del"	""	"pathogenic"	""
"0000158348"	"3"	"90"	"6"	"80222997"	"80222997"	"subst"	"0"	"01769"	"LCA5_000042"	"g.80222997G>C"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.79513280G>C"	""	"pathogenic"	""
"0000162772"	"3"	"90"	"6"	"80198883"	"80198883"	"del"	"0"	"01769"	"LCA5_000043"	"g.80198883del"	""	"{PMID:Li 2017:28418496}"	""	"1151delC"	""	"Germline"	"yes"	""	"0"	"needs Curator approval"	""	"g.79489166del"	""	"pathogenic"	""
"0000246542"	"0"	"50"	"6"	"80228475"	"80228475"	"subst"	"4.06273E-6"	"02330"	"LCA5_000055"	"g.80228475A>T"	""	""	""	"LCA5(NM_181714.3):c.137T>A (p.V46D), LCA5(NM_181714.4):c.137T>A (p.V46D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79518758A>T"	""	"VUS"	""
"0000248827"	"0"	"10"	"6"	"80228541"	"80228541"	"subst"	"0.835579"	"02325"	"LCA5_000051"	"g.80228541A>G"	""	""	""	"LCA5(NM_181714.4):c.71T>C (p.L24S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79518824A>G"	""	"benign"	""
"0000278756"	"0"	"10"	"6"	"80197069"	"80197069"	"subst"	"0.000187884"	"02330"	"LCA5_000045"	"g.80197069G>A"	""	""	""	"LCA5(NM_181714.4):c.1746C>T (p.N582=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79487352G>A"	""	"benign"	""
"0000278757"	"0"	"10"	"6"	"80223467"	"80223467"	"del"	"4.92494E-5"	"02330"	"LCA5_000049"	"g.80223467del"	""	""	""	"LCA5(NM_181714.4):c.191-9delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79513750del"	""	"benign"	""
"0000278758"	"0"	"50"	"6"	"80223102"	"80223102"	"subst"	"2.03497E-5"	"02330"	"LCA5_000047"	"g.80223102G>A"	""	""	""	"LCA5(NM_181714.4):c.547C>T (p.R183W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79513385G>A"	""	"VUS"	""
"0000282122"	"0"	"10"	"6"	"80196848"	"80196848"	"subst"	"0.307648"	"02325"	"LCA5_000044"	"g.80196848C>T"	""	""	""	"LCA5(NM_181714.4):c.1967G>A (p.G656D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79487131C>T"	""	"benign"	""
"0000290884"	"0"	"50"	"6"	"80223128"	"80223128"	"subst"	"0.000138422"	"01943"	"LCA5_000048"	"g.80223128C>T"	""	""	""	"LCA5(NM_181714.3):c.521G>A (p.R174H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79513411C>T"	""	"VUS"	""
"0000338786"	"0"	"10"	"6"	"80228673"	"80228673"	"subst"	"0"	"02327"	"LCA5_000052"	"g.80228673T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79518956T>C"	""	"benign"	""
"0000344030"	"0"	"10"	"6"	"80228535"	"80228535"	"subst"	"0.184248"	"02327"	"LCA5_000050"	"g.80228535T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79518818T>G"	""	"benign"	""
"0000346209"	"0"	"10"	"6"	"80196848"	"80196848"	"subst"	"0.307648"	"02327"	"LCA5_000044"	"g.80196848C>T"	""	""	""	"LCA5(NM_181714.4):c.1967G>A (p.G656D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79487131C>T"	""	"benign"	""
"0000347032"	"0"	"10"	"6"	"80228541"	"80228541"	"subst"	"0.835579"	"02327"	"LCA5_000051"	"g.80228541A>G"	""	""	""	"LCA5(NM_181714.4):c.71T>C (p.L24S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.79518824A>G"	""	"benign"	""
"0000358278"	"3"	"90"	"6"	"80197101"	"80197101"	"subst"	"0"	"01243"	"LCA5_000054"	"g.80197101G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487384G>A"	""	"pathogenic"	""
"0000358279"	"3"	"90"	"6"	""	""	""	""	"01243"	"LCA5_000003"	"g.80203353>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000358280"	"3"	"90"	"6"	""	""	""	""	"01243"	"LCA5_000053"	"g.80223411>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000529890"	"0"	"30"	"6"	"80197173"	"80197173"	"subst"	"0.00112841"	"01943"	"LCA5_000046"	"g.80197173G>A"	""	""	""	"LCA5(NM_181714.3):c.1642C>T (p.P548S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79487456G>A"	""	"likely benign"	""
"0000529892"	"0"	"30"	"6"	"80197555"	"80197555"	"subst"	"0.000176061"	"01943"	"LCA5_000057"	"g.80197555C>T"	""	""	""	"LCA5(NM_181714.3):c.1260G>A (p.K420=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79487838C>T"	""	"likely benign"	""
"0000529893"	"0"	"10"	"6"	"80197598"	"80197598"	"subst"	"8.54562E-5"	"02330"	"LCA5_000058"	"g.80197598A>T"	""	""	""	"LCA5(NM_181714.4):c.1232-15T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79487881A>T"	""	"benign"	""
"0000529894"	"0"	"50"	"6"	"80201306"	"80201306"	"subst"	"0.000276621"	"02330"	"LCA5_000059"	"g.80201306A>G"	""	""	""	"LCA5(NM_181714.4):c.1097T>C (p.L366S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79491589A>G"	""	"VUS"	""
"0000529895"	"0"	"10"	"6"	"80202376"	"80202376"	"subst"	"0.00469316"	"02327"	"LCA5_000060"	"g.80202376C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79492659C>G"	""	"benign"	""
"0000529896"	"0"	"30"	"6"	"80203325"	"80203325"	"subst"	"2.84791E-5"	"01943"	"LCA5_000061"	"g.80203325C>G"	""	""	""	"LCA5(NM_181714.3):c.858+5G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79493608C>G"	""	"likely benign"	""
"0000529897"	"0"	"10"	"6"	"80223063"	"80223063"	"subst"	"0.00180504"	"02330"	"LCA5_000062"	"g.80223063G>A"	""	""	""	"LCA5(NM_181714.4):c.586C>T (p.L196=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79513346G>A"	""	"benign"	""
"0000529898"	"0"	"50"	"6"	"80223311"	"80223311"	"subst"	"0.000427364"	"01943"	"LCA5_000063"	"g.80223311T>C"	""	""	""	"LCA5(NM_181714.3):c.338A>G (p.N113S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79513594T>C"	""	"VUS"	""
"0000529899"	"0"	"10"	"6"	"80223452"	"80223452"	"subst"	"0.00492758"	"02327"	"LCA5_000064"	"g.80223452C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79513735C>T"	""	"benign"	""
"0000529900"	"0"	"30"	"6"	"80223466"	"80223466"	"del"	"0"	"01943"	"LCA5_000065"	"g.80223466del"	""	""	""	"LCA5(NM_181714.3):c.191-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79513749del"	""	"likely benign"	""
"0000529901"	"0"	"30"	"6"	"80228584"	"80228584"	"subst"	"1.62476E-5"	"01943"	"LCA5_000066"	"g.80228584T>C"	""	""	""	"LCA5(NM_181714.3):c.28A>G (p.T10A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79518867T>C"	""	"likely benign"	""
"0000529902"	"0"	"10"	"6"	"80235004"	"80235004"	"subst"	"0"	"02327"	"LCA5_000067"	"g.80235004G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79525287G>A"	""	"benign"	""
"0000610534"	"0"	"30"	"6"	"80198817"	"80198817"	"subst"	"0.00042327"	"01943"	"LCA5_000069"	"g.80198817A>C"	""	""	""	"LCA5(NM_181714.3):c.1215T>G (p.V405=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79489100A>C"	""	"likely benign"	""
"0000621775"	"0"	"50"	"6"	"80197282"	"80197282"	"subst"	"2.853E-5"	"01943"	"LCA5_000068"	"g.80197282G>T"	""	""	""	"LCA5(NM_181714.3):c.1533C>A (p.F511L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79487565G>T"	""	"VUS"	""
"0000621776"	"0"	"50"	"6"	"80228475"	"80228475"	"subst"	"4.06273E-6"	"01943"	"LCA5_000055"	"g.80228475A>T"	""	""	""	"LCA5(NM_181714.3):c.137T>A (p.V46D), LCA5(NM_181714.4):c.137T>A (p.V46D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.79518758A>T"	""	"VUS"	""
"0000652066"	"1"	"50"	"6"	"80246820"	"80246820"	"subst"	"0"	"03575"	"LCA5_000070"	"g.80246820A>C"	"9/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"9 heterozygous, no homozygous; {DB:CLININrs9343917}"	"Germline"	""	"rs9343917"	"0"	""	""	"g.79537103A>C"	""	"VUS"	""
"0000685270"	"0"	"90"	"6"	"80198861"	"80198861"	"subst"	"0"	"00004"	"LCA5_000071"	"g.80198861T>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685271"	"0"	"90"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"00004"	"LCA5_000003"	"g.80203353G>A"	"3/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685272"	"0"	"90"	"6"	"80223411"	"80223411"	"subst"	"8.16107E-6"	"00004"	"LCA5_000053"	"g.80223411G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000686202"	"0"	"90"	"6"	"80198883"	"80198883"	"del"	"0"	"01164"	"LCA5_000001"	"g.80198883del"	""	"den Hollander et al. 2007. Nat Genet 39: 889; Maranhao et al. 2015. PLoS One 10: 136561"	""	""	"ACMG grading: PVS1,PM2,PM3"	"Germline"	""	"rs386834252"	"0"	""	""	"g.79489166del"	""	"pathogenic"	"ACMG"
"0000686203"	"0"	"50"	"6"	"80222980"	"80222980"	"subst"	"8.1357E-6"	"01164"	"LCA5_000072"	"g.80222980C>A"	""	""	""	""	"ACMG grading: PM2,PP3"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000712657"	"0"	"50"	"6"	"80223248"	"80223248"	"subst"	"3.66435E-5"	"03980"	"LCA5_000073"	"g.80223248T>G"	""	"Doucette 2021, submitted"	""	""	""	"Germline"	"yes"	"rs200395970"	""	""	""	""	""	"VUS"	""
"0000713285"	"3"	"90"	"6"	"80223010"	"80223016"	"del"	"0"	"00000"	"LCA5_000012"	"g.80223010_80223016del"	""	"{PMID:Carss 2017:28041643}"	""	"6:80223009GTCTAGCT>G ENST00000392959.1:c.633_639delAGCTAGA (Glu211AspfsTer13)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713366"	"3"	"90"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Carss 2017:28041643}"	""	"6:80203350G>A ENST00000392959.1:c.838C>T (Arg280Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713479"	"3"	"90"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Carss 2017:28041643}"	""	"6:80203350G>A ENST00000392959.1:c.838C>T (Arg280Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713583"	"3"	"90"	"6"	"80197139"	"80197139"	"subst"	"0"	"00000"	"LCA5_000014"	"g.80197139G>T"	""	"{PMID:Carss 2017:28041643}"	""	"6:80197139G>T ENST00000392959.1:c.1676C>A (Ser559Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000721118"	"0"	"50"	"6"	"80201302"	"80201302"	"subst"	"2.84819E-5"	"01943"	"LCA5_000074"	"g.80201302C>A"	""	""	""	"LCA5(NM_181714.3):c.1098+3G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000731251"	"3"	"70"	"6"	"80198885"	"80198888"	"dup"	"0"	"00000"	"LCA5_000075"	"g.80198885_80198888dup"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79489168_79489171dup"	""	"likely pathogenic (recessive)"	""
"0000732493"	"0"	"50"	"6"	"80197492"	"80197492"	"subst"	"0.000102265"	"00000"	"LCA5_000077"	"g.80197492G>A"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487775G>A"	""	"VUS"	""
"0000732506"	"0"	"90"	"6"	"80223040"	"80223040"	"subst"	"6.91057E-5"	"00000"	"LCA5_000078"	"g.80223040T>C"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79513323T>C"	""	"pathogenic"	""
"0000732609"	"0"	"30"	"6"	"80196765"	"80196765"	"subst"	"4.07037E-6"	"00000"	"LCA5_000076"	"g.80196765C>G"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs745875716"	"0"	""	""	"g.79487048C>G"	""	"likely benign"	""
"0000733186"	"3"	"70"	"6"	"80196996"	"80196997"	"del"	"0"	"00000"	"LCA5_000023"	"g.80196996_80196997del"	""	"{PMID:Stone 2017:28559085}"	""	"1818_1819delAC"	""	"Germline"	""	""	"0"	""	""	"g.79487279_79487280del"	""	"likely pathogenic"	""
"0000759578"	"3"	"90"	"6"	"80197059"	"80197059"	"subst"	"8.15016E-6"	"00000"	"LCA5_000011"	"g.80197059T>A"	""	"{PMID:Carrigan 2016:27624628}"	""	"NM_001122769.2:c.1756A>T"	""	"Germline"	""	""	"0"	""	""	"g.79487342T>A"	""	"pathogenic"	""
"0000760074"	"0"	"50"	"6"	"80222988"	"80222988"	"subst"	"3.65988E-5"	"00000"	"LCA5_000079"	"g.80222988A>C"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001122769.2:c.661T>G"	""	"Germline"	""	""	"0"	""	""	"g.79513271A>C"	""	"VUS"	""
"0000760196"	"3"	"50"	"6"	"80223012"	"80223018"	"del"	"0"	"00000"	"LCA5_000012"	"g.80223012_80223018del"	""	"{PMID:Ellingford 2016:27208204}"	""	"633_639delAGCTAGA"	""	"Germline"	""	""	"0"	""	""	"g.79513295_79513301del"	""	"VUS"	""
"0000765864"	"0"	"70"	"6"	"80201383"	"80201383"	"del"	"0"	"00000"	"LCA5_000080"	"g.80201383del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79491666del"	""	"likely pathogenic"	""
"0000783819"	"1"	"90"	"6"	"80197352"	"80197352"	"del"	"0"	"00000"	"LCA5_000081"	"g.80197352del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487635del"	""	"pathogenic"	""
"0000783820"	"3"	"90"	"6"	"80202357"	"80202358"	"del"	"0"	"00000"	"LCA5_000083"	"g.80202357_80202358del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79492640_79492641del"	""	"pathogenic"	""
"0000783821"	"3"	"90"	"6"	"80202345"	"80202345"	"del"	"0"	"00000"	"LCA5_000082"	"g.80202345del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79492628del"	""	"pathogenic"	""
"0000783822"	"1"	"90"	"6"	"80198825"	"80198825"	"subst"	"0"	"00000"	"LCA5_000022"	"g.80198825G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79489108G>A"	""	"pathogenic"	""
"0000783823"	"1"	"90"	"6"	"80197055"	"80197056"	"ins"	"0"	"00000"	"LCA5_000020"	"g.80197055_80197056insCT"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79487338_79487339insCT"	""	"pathogenic"	""
"0000783880"	"3"	"50"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"00000"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493676A>C"	""	"VUS"	""
"0000783920"	"2"	"90"	"6"	"80223411"	"80223411"	"subst"	"8.16107E-6"	"00000"	"LCA5_000053"	"g.80223411G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79513694G>A"	""	"pathogenic"	""
"0000783921"	"2"	"90"	"6"	"80228574"	"80228577"	"del"	"0"	"00000"	"LCA5_000021"	"g.80228574_80228577del"	""	"{PMID:Wang 2015:26047050}"	""	"35_38delAAGA"	""	"Germline"	""	""	"0"	""	""	"g.79518857_79518860del"	""	"pathogenic"	""
"0000783922"	"2"	"90"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"00000"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493676A>C"	""	"pathogenic"	""
"0000786426"	"3"	"90"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.79493633G>A"	""	"pathogenic (recessive)"	""
"0000788380"	"0"	"50"	"6"	"80223311"	"80223311"	"subst"	"0.000427364"	"00000"	"LCA5_000063"	"g.80223311T>C"	""	"{PMID:Katagiri 2014:25268133}"	""	"A338G"	""	"Germline"	""	"rs181890907"	"0"	""	""	"g.79513594T>C"	""	"VUS"	""
"0000790933"	"3"	"70"	"6"	"80198881"	"80198881"	"del"	"4.07751E-6"	"00000"	"LCA5_000001"	"g.80198881del"	""	"{PMID:mckibbin-2010:20065226}"	""	"c.1151delC (p.Pro384GlnfsX17)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790934"	"3"	"70"	"6"	"80198881"	"80198881"	"del"	"4.07751E-6"	"00000"	"LCA5_000001"	"g.80198881del"	""	"{PMID:mckibbin-2010:20065226}"	""	"c.1151delC (p.Pro384GlnfsX17)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790935"	"3"	"70"	"6"	"80198881"	"80198881"	"del"	"4.07751E-6"	"00000"	"LCA5_000001"	"g.80198881del"	""	"{PMID:mckibbin-2010:20065226}"	""	"c.1151delC (p.Pro384GlnfsX17)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000792176"	"0"	"90"	"6"	"80196995"	"80196996"	"del"	"0"	"00000"	"LCA5_000084"	"g.80196995_80196996delTG"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1819_1820delCA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792188"	"0"	"10"	"6"	"80223015"	"80223015"	"subst"	"8.12975E-6"	"00000"	"LCA5_000024"	"g.80223015C>A"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"634G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000794332"	"3"	"90"	"6"	"80196996"	"80196997"	"del"	"0"	"00000"	"LCA5_000023"	"g.80196996_80196997del"	""	"{PMID:Wang 2018:30029497}"	""	"NM_181714.3:c.1819_1820del, NP_859065.2:p.(Gln607ValfsTer7), NC_000006.11:g.80196996_80196997del"	""	"Germline"	"?"	""	"0"	""	""	"g.79487279_79487280del"	""	"pathogenic"	"ACMG"
"0000795975"	"0"	"30"	"6"	"80223348"	"80223348"	"subst"	"3.66449E-5"	"00000"	"LCA5_000085"	"g.80223348T>C"	""	"{PMID:Chen-2013:23661368}"	""	"c.301A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000795977"	"3"	"70"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"00000"	"LCA5_000019"	"g.80203393A>C"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[795T>G];[795T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796204"	"3"	"90"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"00000"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.835C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796796"	"0"	"70"	"6"	"80203424"	"80203424"	"subst"	"2.44463E-5"	"00000"	"LCA5_000086"	"g.80203424C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.764G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796802"	"3"	"90"	"6"	"80203425"	"80203425"	"subst"	"1.22274E-5"	"00000"	"LCA5_000087"	"g.80203425G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.763C>T"	""	"Germline"	""	"rs151017794"	"0"	""	""	""	""	"pathogenic"	""
"0000798498"	"3"	"90"	"6"	"80201335"	"80201341"	"del"	"0"	"00000"	"LCA5_000088"	"g.80201335_80201341del"	""	"{PMID:Beryozkin-2014:24474277}"	""	"c.1062_1068del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000802746"	"0"	"50"	"6"	"80196768"	"80196768"	"subst"	"8.13994E-6"	"01943"	"LCA5_000089"	"g.80196768C>G"	""	""	""	"LCA5(NM_181714.3):c.2047G>C (p.A683P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802747"	"0"	"50"	"6"	"80202321"	"80202321"	"subst"	"0.000533956"	"01943"	"LCA5_000090"	"g.80202321C>T"	""	""	""	"LCA5(NM_181714.3):c.902G>A (p.R301H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811429"	"3"	"70"	"6"	"80202302"	"80202302"	"del"	"0"	"00000"	"LCA5_000091"	"g.80202302del"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.923del  (p.Asn308Ilefs*8), Allele 2 c.923del  (p.Asn308Ilefs*8)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.79492585del"	""	"likely pathogenic"	""
"0000812468"	"3"	"70"	"6"	"80222928"	"80222928"	"subst"	"0"	"00000"	"LCA5_000039"	"g.80222928C>T"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.720+1G>A, p.?"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79513211C>T"	""	"likely pathogenic"	""
"0000812570"	"3"	"90"	"6"	"80196996"	"80196997"	"del"	"0"	"00000"	"LCA5_000023"	"g.80196996_80196997del"	""	"{PMID:Wang 2019:31106028}"	""	"c.1819_1820delAC, p.(Gln607Valfs*7)"	"error in annotation: c.1819_1820delAC instead of c.1819_1820del, Homozygous"	"Germline"	"?"	""	"0"	""	""	"g.79487279_79487280del"	""	"pathogenic"	""
"0000812644"	"0"	"90"	"6"	"80203469"	"80203469"	"subst"	"0"	"00000"	"LCA5_000092"	"g.80203469T>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.721-2T>C, p.?"	"error in annotation: c.721-2T>C instead of A>G, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79493752T>C"	""	"pathogenic"	""
"0000812645"	"0"	"90"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"00000"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.795A>C, p.(Tyr265*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79493676A>C"	""	"pathogenic"	""
"0000812681"	"0"	"90"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"00000"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.795A>C, p.(Tyr265*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.79493676A>C"	""	"pathogenic"	""
"0000812682"	"0"	"90"	"6"	"80223158"	"80223158"	"subst"	"9.36619E-5"	"00000"	"LCA5_000031"	"g.80223158T>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.491T>C, p.(His164Arg)"	"error in annotation: c.491T>C instead of A>G, compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.79513441T>C"	""	"pathogenic"	""
"0000813649"	"3"	"90"	"6"	"80228543"	"80228543"	"subst"	"0"	"00000"	"LCA5_000030"	"g.80228543G>C"	""	"{PMID:Xu 2020:31630094}"	""	"LCA5 NM_001122769: g.18633C>G, c.69C>G, p.Y23X"	""	"Germline"	"yes"	""	"0"	""	""	"g.79518826G>C"	""	"pathogenic"	"ACMG"
"0000813698"	"1"	"90"	"6"	"80228521"	"80228521"	"subst"	"0"	"00000"	"LCA5_000093"	"g.80228521G>A"	""	"{PMID:Xu 2020:31630094}"	""	"LCA5 NM_001122769: g.18655C>T, c.91C>T, p.Q31X"	""	"Germline"	"yes"	""	"0"	""	""	"g.79518804G>A"	""	"pathogenic"	"ACMG"
"0000813772"	"2"	"90"	"6"	"80203393"	"80203393"	"subst"	"8.13769E-6"	"00000"	"LCA5_000019"	"g.80203393A>C"	""	"{PMID:Xu 2020:31630094}"	""	"LCA5 NM_001122769: g.43783T>G, c.795T>G, p.Y265X"	""	"Germline"	"yes"	""	"0"	""	""	"g.79493676A>C"	""	"pathogenic"	"ACMG"
"0000815574"	"0"	"50"	"6"	"80196768"	"80196779"	"del"	"0"	"00000"	"LCA5_000094"	"g.80196768_80196779del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"LCA5:NM_181714 c.2040_2051del, p.V681_A684del"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.79487051_79487062del"	""	"VUS"	"ACMG"
"0000817677"	"3"	"70"	"6"	"80197572"	"80197572"	"subst"	"0"	"00000"	"LCA5_000095"	"g.80197572C>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"LCA5 c.1243G>T; c.1243G>T"	"no protein change given, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79487855C>A"	""	"likely pathogenic"	""
"0000817678"	"3"	"70"	"6"	"80197572"	"80197572"	"subst"	"0"	"00000"	"LCA5_000095"	"g.80197572C>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"LCA5 c.1243G>T; c.1243G>T"	"no protein change given, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79487855C>A"	""	"likely pathogenic"	""
"0000817679"	"3"	"70"	"6"	"80197572"	"80197572"	"subst"	"0"	"00000"	"LCA5_000095"	"g.80197572C>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"LCA5 c.1243G>T; c.1243G>T"	"no protein change given, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79487855C>A"	""	"likely pathogenic"	""
"0000817680"	"3"	"70"	"6"	"80197572"	"80197572"	"subst"	"0"	"00000"	"LCA5_000095"	"g.80197572C>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"LCA5 c.1243G>T; c.1243G>T"	"no protein change given, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79487855C>A"	""	"likely pathogenic"	""
"0000819705"	"1"	"70"	"6"	"80223012"	"80223018"	"del"	"0"	"00000"	"LCA5_000012"	"g.80223012_80223018del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"LCA5, variant 1: c.633_639del/p.E211Dfs*13, variant 2: c.633_639del/p.E211Dfs*13"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79513295_79513301del"	""	"likely pathogenic"	""
"0000819706"	"1"	"70"	"6"	"80223012"	"80223018"	"del"	"0"	"00000"	"LCA5_000012"	"g.80223012_80223018del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"LCA5, variant 1: c.633_639del/p.E211Dfs*13, variant 2: c.633_639del/p.E211Dfs*13"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79513295_79513301del"	""	"likely pathogenic"	""
"0000820451"	"1"	"70"	"6"	"80223132"	"80223135"	"del"	"0"	"00000"	"LCA5_000096"	"g.80223132_80223135del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"LCA5, variant 1: c.516_519del/p.K172Nfs*3, variant 2: c.401A>C/p.K134T"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79513415_79513418del"	""	"likely pathogenic"	""
"0000820921"	"1"	"70"	"6"	"80223248"	"80223248"	"subst"	"3.66435E-5"	"00000"	"LCA5_000073"	"g.80223248T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"LCA5, variant 1: c.516_519del/p.K172Nfs*3, variant 2: c.401A>C/p.K134T"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79513531T>G"	""	"likely pathogenic"	""
"0000821287"	"3"	"70"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Turro 2020:32581362}"	""	"LCA5 c.838C>T, p.Arg280Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.79493633G>A"	""	"likely pathogenic"	""
"0000821288"	"3"	"70"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Turro 2020:32581362}"	""	"LCA5 c.838C>T, p.Arg280Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.79493633G>A"	""	"likely pathogenic"	""
"0000821289"	"3"	"90"	"6"	"80197139"	"80197139"	"subst"	"0"	"00000"	"LCA5_000014"	"g.80197139G>T"	""	"{PMID:Turro 2020:32581362}"	""	"LCA5 c.1676C>A, p.Ser559Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.79487422G>T"	""	"pathogenic"	""
"0000823254"	"0"	"50"	"6"	"80228509"	"80228509"	"subst"	"8.1248E-6"	"00000"	"LCA5_000005"	"g.80228509G>A"	""	"{PMID:Hull 2020:32856788}"	""	"LCA5 nucleotide 1, protein 1:c.103C>T, p.Arg35* nucleotide 2, protein 2:c.194delC, p.Pro65Leufs*46"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.79518792G>A"	""	"VUS"	""
"0000823286"	"0"	"70"	"6"	"80223458"	"80223458"	"del"	"0"	"00000"	"LCA5_000097"	"g.80223458del"	""	"{PMID:Hull 2020:32856788}"	""	"LCA5 nucleotide 1, protein 1:c.103C>T, p.Arg35* nucleotide 2, protein 2:c.194delC, p.Pro65Leufs*46"	"heterozygous, ACMG classified, novel (Table 2)"	"Germline"	"?"	""	"0"	""	""	"g.79513741del"	""	"likely pathogenic"	"ACMG"
"0000823366"	"0"	"90"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"LCA5 c.838C>T; p.Arg280Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79493633G>A"	""	"pathogenic"	"ACMG"
"0000823367"	"0"	"90"	"6"	"80203350"	"80203350"	"subst"	"0"	"00000"	"LCA5_000041"	"g.80203350G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"LCA6 c.838C>T; p.Arg280Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79493633G>A"	""	"pathogenic"	"ACMG"
"0000823368"	"0"	"50"	"6"	"80202268"	"80202268"	"subst"	"0"	"00000"	"LCA5_000008"	"g.80202268C>T"	""	"{PMID:Sallum 2020:32865313}"	""	"LCA7 c.955G>A; p.AIa319Thr/p.?"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79492551C>T"	""	"VUS"	"ACMG"
"0000825667"	"3"	"70"	"6"	"80196995"	"80196996"	"del"	"8.15009E-6"	"00000"	"LCA5_000023"	"g.80196995_80196996del"	""	"{PMID:Liu-2020:33090715}"	""	"c.1818_1819delAC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000844371"	"0"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"00000"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"LCA5 c.835C>T, p.Q279X"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000845004"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"00000"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:Mohamed 2003:12642313}"	""	"LCA5"	"homozygous mutation, described in paper as \"\"Old Order River Brethren\"\" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned"	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000845005"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"00000"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:Mohamed 2003:12642313}"	""	"LCA5"	"homozygous mutation, described in paper as \"\"Old Order River Brethren\"\" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned"	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000845006"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"00000"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:Mohamed 2003:12642313}"	""	"LCA5"	"homozygous mutation, described in paper as \"\"Old Order River Brethren\"\" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned"	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000845007"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"00000"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:Mohamed 2003:12642313}"	""	"LCA5"	"homozygous mutation, described in paper as \"\"Old Order River Brethren\"\" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned"	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000845008"	"3"	"70"	"6"	"80232537"	"80234134"	"del"	"0"	"00000"	"LCA5_000004"	"g.80232537_80234134del"	""	"{PMID:Mohamed 2003:12642313}"	""	"LCA5"	"homozygous mutation, described in paper as \"\"Old Order River Brethren\"\" mutation according to ClinVar was originally reported by Dharmaraj et al. (2000); in 2007 den Hollander et al. identified a 1,598-bp deletion in the LCA5 gene that encompassed 1,077 bp of the promoter region and noncoding exon 1 (g.(-19612)-(-18015)del1598); in this paper the boundaries are not mentioned"	"Germline"	"yes"	""	"0"	""	""	"g.79522820_79524417del"	""	"likely pathogenic"	""
"0000845123"	"3"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"00000"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Jacobson 2009:19503738}"	""	"LCA5 Gln279Stop"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000845124"	"3"	"70"	"6"	"80203353"	"80203353"	"subst"	"0.000109811"	"00000"	"LCA5_000003"	"g.80203353G>A"	""	"{PMID:Jacobson 2009:19503738}"	""	"LCA5 Gln279Stop"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79493636G>A"	""	"likely pathogenic"	""
"0000845214"	"0"	"70"	"6"	"80203404"	"80203404"	"del"	"0"	"00000"	"LCA5_000099"	"g.80203404del"	""	"{PMID:Vallespin 2010:20108395}"	""	"LCA5 c.828delA, p.Lys131fs"	"obsolete nucleotide annotation, extrapolated from sequence and databases"	"Unknown"	"?"	""	"0"	""	""	"g.79493687del"	""	"likely pathogenic"	""
"0000845216"	"0"	"70"	"6"	"80223045"	"80223045"	"subst"	"0"	"00000"	"LCA5_000035"	"g.80223045A>G"	""	"{PMID:Vallespin 2010:21488265}"	""	"LCA5 c.1039T>C, p.Ser202Pro"	"obsolete nucleotide annotation, extrapolated from sequence and databases"	"Unknown"	"?"	""	"0"	""	""	"g.79513328A>G"	""	"likely pathogenic"	""
"0000845220"	"3"	"70"	"6"	"80198883"	"80198883"	"del"	"0"	"00000"	"LCA5_000001"	"g.80198883del"	""	"{PMID:Maranhao 2015:26352687}"	""	"LCA5: c.1151delC (NM_001122769.2, p.P384fs (NP_001116241.1)"	"homozygous"	"Germline"	"yes"	"rs386834252"	"0"	""	""	"g.79489166del"	""	"likely pathogenic"	""
"0000845222"	"11"	"70"	"6"	"80223015"	"80223015"	"subst"	"2.43893E-5"	"00000"	"LCA5_000100"	"g.80223015C>G"	""	"{PMID:Chen 2016:27067258}"	""	"LCA5 c.[634G>C];[1322A>G], p.[Ala212Pro];[Tyr441Cys]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79513298C>G"	""	"likely pathogenic"	""
"0000845223"	"11"	"70"	"6"	"80223015"	"80223015"	"subst"	"2.43893E-5"	"00000"	"LCA5_000100"	"g.80223015C>G"	""	"{PMID:Chen 2016:27067258}"	""	"LCA5 c.[634G>C];[1322A>G], p.[Ala212Pro];[Tyr441Cys]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79513298C>G"	""	"likely pathogenic"	""
"0000845224"	"21"	"70"	"6"	"80197493"	"80197493"	"subst"	"0"	"00000"	"LCA5_000098"	"g.80197493T>C"	""	"{PMID:Chen 2016:27067258}"	""	"LCA5 c.[634G>C];[1322A>G], p.[Ala212Pro];[Tyr441Cys]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79487776T>C"	""	"likely pathogenic"	""
"0000845225"	"21"	"70"	"6"	"80197493"	"80197493"	"subst"	"0"	"00000"	"LCA5_000098"	"g.80197493T>C"	""	"{PMID:Chen 2016:27067258}"	""	"LCA5 c.[634G>C];[1322A>G], p.[Ala212Pro];[Tyr441Cys]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.79487776T>C"	""	"likely pathogenic"	""
"0000846618"	"0"	"50"	"6"	"80228541"	"80228541"	"subst"	"0.835579"	"00000"	"LCA5_000051"	"g.80228541A>G"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.71T>C (p.L24S)"	"heterozygous"	"Unknown"	"?"	"rs2655655"	"0"	""	""	"g.79518824A>G"	""	"VUS"	""
"0000846619"	"0"	"50"	"6"	"80228535"	"80228535"	"subst"	"0.184248"	"00000"	"LCA5_000050"	"g.80228535T>G"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.77A>C (p.D26A)"	"heterozygous"	"Unknown"	"?"	"rs3406846"	"0"	""	""	"g.79518818T>G"	""	"VUS"	""
"0000846620"	"0"	"50"	"6"	"80196848"	"80196848"	"subst"	"0.307648"	"00000"	"LCA5_000044"	"g.80196848C>T"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.1967G>A (p.G656D)"	"heterozygous"	"Unknown"	"?"	"rs1875845"	"0"	""	""	"g.79487131C>T"	""	"VUS"	""
"0000846621"	"0"	"10"	"6"	"80197173"	"80197173"	"subst"	"0.00112841"	"00000"	"LCA5_000046"	"g.80197173G>A"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.1642C>T (p.P548S)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79487456G>A"	""	"benign"	""
"0000846622"	"0"	"50"	"6"	"80196848"	"80196848"	"subst"	"0.307648"	"00000"	"LCA5_000044"	"g.80196848C>T"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.1967G>A (p.G656D)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79487131C>T"	""	"VUS"	""
"0000846623"	"0"	"50"	"6"	"80203253"	"80203253"	"subst"	"0"	"00000"	"LCA5_000102"	"g.80203253G>A"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.858+77C>T"	"heterozygous"	"Unknown"	"?"	"rs9443675"	"0"	""	""	"g.79493536G>A"	""	"VUS"	""
"0000846624"	"0"	"50"	"6"	"80203201"	"80203203"	"del"	"0"	"00000"	"LCA5_000101"	"g.80203201_80203203del"	""	"{PMID:Seong 2009:19172513}"	""	"LCA5 c.858+127 129delATC"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.79493484_79493486del"	""	"VUS"	""
"0000847387"	"0"	"50"	"6"	"80223315"	"80223315"	"subst"	"8.14074E-5"	"00000"	"LCA5_000103"	"g.80223315T>C"	""	""	""	"c.334A>G (p.I112V)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000851324"	"0"	"30"	"6"	"80223324"	"80223324"	"subst"	"0"	"01943"	"LCA5_000104"	"g.80223324G>A"	""	""	""	"LCA5(NM_181714.3):c.325C>T (p.L109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916041"	"1"	"50"	"6"	"80222985"	"80222985"	"subst"	"4.06815E-6"	"04436"	"LCA5_000108"	"g.80222985C>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.664G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916042"	"2"	"50"	"6"	"80196990"	"80196990"	"subst"	"8.14956E-6"	"04436"	"LCA5_000106"	"g.80196990A>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1825T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916099"	"3"	"90"	"6"	"80223113"	"80223114"	"ins"	"0"	"04436"	"LCA5_000109"	"g.80223113_80223114insA"	""	"{PMID:Panneman 2023:36819107}"	""	"c.535_536insT"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916489"	"1"	"50"	"6"	"80228481"	"80228481"	"subst"	"0"	"04436"	"LCA5_000110"	"g.80228481G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.131C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916490"	"2"	"50"	"6"	"80196827"	"80196827"	"subst"	"0"	"04436"	"LCA5_000105"	"g.80196827C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1988G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916679"	"3"	"70"	"6"	"80203365"	"80203365"	"subst"	"0"	"04436"	"LCA5_000107"	"g.80203365G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[823C>A;829del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916680"	"3"	"70"	"6"	"80203359"	"80203359"	"del"	"0"	"04436"	"LCA5_000107"	"g.80203359del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[823C>A;829del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916681"	"3"	"70"	"6"	"80203365"	"80203365"	"subst"	"0"	"04436"	"LCA5_000107"	"g.80203365G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[823C>A;829del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916682"	"3"	"70"	"6"	"80203359"	"80203359"	"del"	"0"	"04436"	"LCA5_000107"	"g.80203359del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[823C>A;829del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000959475"	"0"	"90"	"6"	"80203425"	"80203425"	"subst"	"1.22274E-5"	"00006"	"LCA5_000087"	"g.80203425G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.79493708G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000964284"	"0"	"30"	"6"	"80197492"	"80197492"	"subst"	"0.000102265"	"02330"	"LCA5_000077"	"g.80197492G>A"	""	""	""	"LCA5(NM_181714.4):c.1323C>T (p.Y441=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes LCA5
## Count = 310
"{{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}}"
"0000090892"	"00010990"	"90"	"256"	"0"	"256"	"0"	"c.256del"	"r.(?)"	"p.(Gln86Argfs*25)"	"4"
"0000091014"	"00010990"	"70"	"643"	"0"	"643"	"0"	"c.643del"	"r.(?)"	"p.(Leu215Tyrfs*11)"	"4"
"0000091015"	"00010990"	"70"	"643"	"0"	"643"	"0"	"c.643del"	"r.(?)"	"p.(Leu215Tyrfs*11)"	"4"
"0000091016"	"00010990"	"70"	"643"	"0"	"643"	"0"	"c.643del"	"r.(?)"	"p.(Leu215Tyrfs*11)"	"4"
"0000091017"	"00010990"	"70"	"643"	"0"	"643"	"0"	"c.643del"	"r.(?)"	"p.(Leu215Tyrfs*11)"	"4"
"0000091018"	"00010990"	"70"	"103"	"0"	"103"	"0"	"c.103C>T"	"r.(?)"	"p.(Arg35*)"	"3"
"0000091019"	"00010990"	"70"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.(?)"	"p.(Gln204*)"	"4"
"0000091020"	"00010990"	"70"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.(?)"	"p.(Gln204*)"	"4"
"0000091021"	"00010990"	"70"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.(?)"	"p.(Gln204*)"	"4"
"0000091022"	"00010990"	"70"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.(?)"	"p.(Gln204*)"	"4"
"0000091023"	"00010990"	"70"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.(?)"	"p.(Gln204*)"	"4"
"0000091024"	"00010990"	"70"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Glu396*)"	"8"
"0000091025"	"00010990"	"30"	"1316"	"0"	"1316"	"0"	"c.1316G>A"	"r.(?)"	"p.(Gly439Glu)"	"9"
"0000091026"	"00010990"	"70"	"955"	"0"	"955"	"0"	"c.955G>A"	"r.(spl?)"	"p.(Ala319Thr)"	"6"
"0000091027"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091028"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091029"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091030"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091031"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091032"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091033"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091034"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091035"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091036"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091037"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091038"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091039"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091040"	"00010990"	"70"	"1476"	"0"	"1476"	"0"	"c.1476dup"	"r.(?)"	"p.(Pro493Thrfs*2)"	"9"
"0000091041"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091042"	"00010990"	"70"	"-192"	"748"	"-192"	"2345"	"c.-192+748_-192+2345del"	"r.(=)"	"p.(=)"	"2i"
"0000091043"	"00010990"	"70"	"-192"	"748"	"-192"	"2345"	"c.-192+748_-192+2345del"	"r.(=)"	"p.(=)"	"2i"
"0000091045"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091046"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091047"	"00010990"	"70"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	"4"
"0000091048"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091049"	"00010990"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	"3"
"0000091050"	"00010990"	"70"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Ser559*)"	"9"
"0000091051"	"00010990"	"70"	"1231"	"2"	"1231"	"2"	"c.1231+2dup"	"r.spl?"	"p.?"	"8i"
"0000091052"	"00010990"	"70"	"142"	"0"	"142"	"0"	"c.142A>T"	"r.(?)"	"p.(Arg48*)"	"3"
"0000091053"	"00010990"	"70"	"142"	"0"	"142"	"0"	"c.142A>T"	"r.(?)"	"p.(Arg48*)"	"3"
"0000091054"	"00010990"	"70"	"1443"	"0"	"1444"	"0"	"c.1443_1444delinsA"	"r.(?)"	"p.(Arg482Glufs*3)"	"9"
"0000091055"	"00010990"	"70"	"1730"	"0"	"1730"	"0"	"c.1730dup"	"r.(?)"	"p.(Leu577Phefs*12)"	"9"
"0000091056"	"00010990"	"70"	"1759"	"0"	"1760"	"0"	"c.1759_1760insAG"	"r.(?)"	"p.(Leu587Glnfs*7)"	"9"
"0000091057"	"00010990"	"70"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	"5"
"0000091058"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091059"	"00010990"	"70"	"1207"	"0"	"1207"	"0"	"c.1207C>T"	"r.(?)"	"p.(Gln403*)"	"8"
"0000091060"	"00010990"	"70"	"42"	"0"	"45"	"0"	"c.42_45del"	"r.(?)"	"p.(Lys15Glnfs*95)"	"3"
"0000091061"	"00010990"	"70"	"1819"	"0"	"1820"	"0"	"c.1819_1820del"	"r.(?)"	"p.(Gln607Valfs*7)"	"9"
"0000091062"	"00010990"	"77"	"634"	"0"	"634"	"0"	"c.634G>T"	"r.(?)"	"p.(Ala212Ser)"	"4"
"0000091064"	"00010990"	"77"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091065"	"00010990"	"77"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000091066"	"00010990"	"77"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	"4"
"0000091067"	"00010990"	"77"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091068"	"00010990"	"77"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	"3"
"0000091069"	"00010990"	"77"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Ser559*)"	"9"
"0000091070"	"00010990"	"77"	"1756"	"0"	"1756"	"0"	"c.1756A>T"	"r.(?)"	"p.(Lys586*)"	"9"
"0000091071"	"00010990"	"77"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	"4"
"0000091072"	"00010990"	"77"	"1231"	"2"	"1231"	"2"	"c.1231+2dup"	"r.spl?"	"p.?"	"8i"
"0000091073"	"00010990"	"77"	"142"	"0"	"142"	"0"	"c.142A>T"	"r.(?)"	"p.(Arg48*)"	"3"
"0000091074"	"00010990"	"77"	"142"	"0"	"142"	"0"	"c.142A>T"	"r.(?)"	"p.(Arg48*)"	"3"
"0000091076"	"00010990"	"77"	"1759"	"0"	"1760"	"0"	"c.1759_1760insAG"	"r.(?)"	"p.(Leu587Glnfs*7)"	"9"
"0000091077"	"00010990"	"77"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	"5"
"0000091078"	"00010990"	"77"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091079"	"00010990"	"77"	"1207"	"0"	"1207"	"0"	"c.1207C>T"	"r.(?)"	"p.(Gln403*)"	"8"
"0000091080"	"00010990"	"77"	"42"	"0"	"45"	"0"	"c.42_45del"	"r.(?)"	"p.(Lys15Glnfs*95)"	"3"
"0000091081"	"00010990"	"77"	"1730"	"0"	"1730"	"0"	"c.1730dup"	"r.(?)"	"p.(Leu577Phefs*12)"	"9"
"0000091082"	"00010990"	"77"	"2011"	"0"	"2011"	"0"	"c.2011C>T"	"r.(?)"	"p.(Arg671*)"	"9"
"0000091083"	"00010990"	"77"	"491"	"0"	"491"	"0"	"c.491A>G"	"r.(?)"	"p.(His164Arg)"	"4"
"0000091084"	"00010990"	"77"	"69"	"0"	"69"	"0"	"c.69C>G"	"r.(?)"	"p.(Tyr23*)"	"3"
"0000091085"	"00010990"	"77"	"439"	"0"	"449"	"0"	"c.439_449dup"	"r.(?)"	"p.(Glu151*)"	"4"
"0000091086"	"00010990"	"77"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091087"	"00010990"	"77"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091088"	"00010990"	"77"	"256"	"0"	"256"	"0"	"c.256del"	"r.(?)"	"p.(Gln86Argfs*25)"	"4"
"0000091089"	"00010990"	"77"	"256"	"0"	"256"	"0"	"c.256del"	"r.(?)"	"p.(Gln86Argfs*25)"	"4"
"0000091090"	"00010990"	"77"	"256"	"0"	"256"	"0"	"c.256del"	"r.(?)"	"p.(Gln86Argfs*25)"	"4"
"0000091091"	"00010990"	"50"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000091092"	"00010990"	"99"	"393"	"0"	"393"	"0"	"c.393del"	"r.(?)"	"p.(Glu132Lysfs*5)"	"4"
"0000091093"	"00010990"	"97"	"604"	"0"	"604"	"0"	"c.604T>C"	"r.(?)"	"p.(Ser202Pro)"	"4"
"0000091152"	"00010990"	"90"	"1261"	"0"	"1261"	"0"	"c.1261C>T"	"r.(?)"	"p.(Gln421*)"	"9"
"0000091153"	"00010990"	"90"	"149"	"0"	"149"	"0"	"c.149del"	"r.(?)"	"p.(Asn50Ilefs*61)"	"3"
"0000091154"	"00010990"	"90"	"393"	"0"	"393"	"0"	"c.393del"	"r.(?)"	"p.(Glu132Lysfs*5)"	"4"
"0000091155"	"00010990"	"50"	"1418"	"0"	"1418"	"0"	"c.1418A>C"	"r.(?)"	"p.(Glu473Ala)"	"9"
"0000091156"	"00010990"	"90"	"604"	"0"	"604"	"0"	"c.604T>C"	"r.(?)"	"p.(Ser202Pro)"	"4"
"0000091157"	"00010990"	"90"	"604"	"0"	"604"	"0"	"c.604T>C"	"r.(?)"	"p.(Ser202Pro)"	"4"
"0000091158"	"00010990"	"90"	"103"	"0"	"103"	"0"	"c.103C>T"	"r.(?)"	"p.(Arg35*)"	"3"
"0000091159"	"00010990"	"90"	"955"	"0"	"955"	"0"	"c.955G>A"	"r.(spl?)"	"p.(Ala319Thr)"	"6"
"0000091160"	"00010990"	"90"	"720"	"1"	"720"	"1"	"c.720+1G>A"	"r.0"	"p.0"	"4i"
"0000091178"	"00010990"	"70"	"1422"	"0"	"1422"	"0"	"c.1422del"	"r.(?)"	"p.(Ile474Metfs*11)"	"9"
"0000091179"	"00010990"	"70"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	"5"
"0000094914"	"00010990"	"99"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000158348"	"00010990"	"90"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"4"
"0000162772"	"00010990"	"90"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000246542"	"00025900"	"50"	"137"	"0"	"137"	"0"	"c.137T>A"	"r.(?)"	"p.(Val46Asp)"	""
"0000246542"	"00010990"	"50"	"137"	"0"	"137"	"0"	"c.137T>A"	"r.(?)"	"p.(Val46Asp)"	""
"0000248827"	"00025900"	"10"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Ser)"	""
"0000248827"	"00010990"	"10"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Ser)"	""
"0000278756"	"00025900"	"10"	"1746"	"0"	"1746"	"0"	"c.1746C>T"	"r.(?)"	"p.(Asn582=)"	""
"0000278756"	"00010990"	"10"	"1746"	"0"	"1746"	"0"	"c.1746C>T"	"r.(?)"	"p.(Asn582=)"	""
"0000278757"	"00025900"	"10"	"191"	"-9"	"191"	"-9"	"c.191-9del"	"r.(=)"	"p.(=)"	""
"0000278757"	"00010990"	"10"	"191"	"-9"	"191"	"-9"	"c.191-9del"	"r.(=)"	"p.(=)"	""
"0000278758"	"00025900"	"50"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Arg183Trp)"	""
"0000278758"	"00010990"	"50"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Arg183Trp)"	""
"0000282122"	"00025900"	"10"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000282122"	"00010990"	"10"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000290884"	"00025900"	"50"	"521"	"0"	"521"	"0"	"c.521G>A"	"r.(?)"	"p.(Arg174His)"	""
"0000290884"	"00010990"	"50"	"521"	"0"	"521"	"0"	"c.521G>A"	"r.(?)"	"p.(Arg174His)"	""
"0000338786"	"00025900"	"10"	"-62"	"0"	"-62"	"0"	"c.-62A>G"	"r.(?)"	"p.(=)"	""
"0000338786"	"00010990"	"10"	"-62"	"0"	"-62"	"0"	"c.-62A>G"	"r.(?)"	"p.(=)"	""
"0000344030"	"00025900"	"10"	"77"	"0"	"77"	"0"	"c.77A>C"	"r.(?)"	"p.(Asp26Ala)"	""
"0000344030"	"00010990"	"10"	"77"	"0"	"77"	"0"	"c.77A>C"	"r.(?)"	"p.(Asp26Ala)"	""
"0000346209"	"00025900"	"10"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000346209"	"00010990"	"10"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000347032"	"00025900"	"10"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Ser)"	""
"0000347032"	"00010990"	"10"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Ser)"	""
"0000358278"	"00010990"	"90"	"1714"	"0"	"1714"	"0"	"c.1714C>T"	"r.(?)"	"p.(Gln572*)"	"9"
"0000358279"	"00010990"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000358280"	"00010990"	"90"	"238"	"0"	"238"	"0"	"c.238C>T"	"r.(?)"	"p.(Arg80*)"	"4"
"0000529890"	"00025900"	"30"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Pro548Ser)"	""
"0000529890"	"00010990"	"30"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Pro548Ser)"	""
"0000529892"	"00025900"	"30"	"1260"	"0"	"1260"	"0"	"c.1260G>A"	"r.(?)"	"p.(Lys420=)"	""
"0000529892"	"00010990"	"30"	"1260"	"0"	"1260"	"0"	"c.1260G>A"	"r.(?)"	"p.(Lys420=)"	""
"0000529893"	"00025900"	"10"	"1232"	"-15"	"1232"	"-15"	"c.1232-15T>A"	"r.(=)"	"p.(=)"	""
"0000529893"	"00010990"	"10"	"1232"	"-15"	"1232"	"-15"	"c.1232-15T>A"	"r.(=)"	"p.(=)"	""
"0000529894"	"00025900"	"50"	"1097"	"0"	"1097"	"0"	"c.1097T>C"	"r.(?)"	"p.(Leu366Ser)"	""
"0000529894"	"00010990"	"50"	"1097"	"0"	"1097"	"0"	"c.1097T>C"	"r.(?)"	"p.(Leu366Ser)"	""
"0000529895"	"00025900"	"10"	"859"	"-12"	"859"	"-12"	"c.859-12G>C"	"r.(=)"	"p.(=)"	""
"0000529895"	"00010990"	"10"	"859"	"-12"	"859"	"-12"	"c.859-12G>C"	"r.(=)"	"p.(=)"	""
"0000529896"	"00025900"	"30"	"858"	"5"	"858"	"5"	"c.858+5G>C"	"r.spl?"	"p.?"	""
"0000529896"	"00010990"	"30"	"858"	"5"	"858"	"5"	"c.858+5G>C"	"r.spl?"	"p.?"	""
"0000529897"	"00025900"	"10"	"586"	"0"	"586"	"0"	"c.586C>T"	"r.(?)"	"p.(Leu196=)"	""
"0000529897"	"00010990"	"10"	"586"	"0"	"586"	"0"	"c.586C>T"	"r.(?)"	"p.(Leu196=)"	""
"0000529898"	"00025900"	"50"	"338"	"0"	"338"	"0"	"c.338A>G"	"r.(?)"	"p.(Asn113Ser)"	""
"0000529898"	"00010990"	"50"	"338"	"0"	"338"	"0"	"c.338A>G"	"r.(?)"	"p.(Asn113Ser)"	""
"0000529899"	"00025900"	"10"	"197"	"0"	"197"	"0"	"c.197G>A"	"r.(?)"	"p.(Arg66Gln)"	""
"0000529899"	"00010990"	"10"	"197"	"0"	"197"	"0"	"c.197G>A"	"r.(?)"	"p.(Arg66Gln)"	""
"0000529900"	"00025900"	"30"	"191"	"-3"	"191"	"-3"	"c.191-3del"	"r.spl?"	"p.?"	""
"0000529900"	"00010990"	"30"	"191"	"-3"	"191"	"-3"	"c.191-3del"	"r.spl?"	"p.?"	""
"0000529901"	"00025900"	"30"	"28"	"0"	"28"	"0"	"c.28A>G"	"r.(?)"	"p.(Thr10Ala)"	""
"0000529901"	"00010990"	"30"	"28"	"0"	"28"	"0"	"c.28A>G"	"r.(?)"	"p.(Thr10Ala)"	""
"0000529902"	"00025900"	"10"	"-191"	"-6202"	"-191"	"-6202"	"c.-191-6202C>T"	"r.(=)"	"p.(=)"	""
"0000529902"	"00010990"	"10"	"-297"	"-18"	"-297"	"-18"	"c.-297-18C>T"	"r.(=)"	"p.(=)"	""
"0000610534"	"00025900"	"30"	"1215"	"0"	"1215"	"0"	"c.1215T>G"	"r.(?)"	"p.(Val405=)"	""
"0000610534"	"00010990"	"30"	"1215"	"0"	"1215"	"0"	"c.1215T>G"	"r.(?)"	"p.(Val405=)"	""
"0000621775"	"00025900"	"50"	"1533"	"0"	"1533"	"0"	"c.1533C>A"	"r.(?)"	"p.(Phe511Leu)"	""
"0000621775"	"00010990"	"50"	"1533"	"0"	"1533"	"0"	"c.1533C>A"	"r.(?)"	"p.(Phe511Leu)"	""
"0000621776"	"00025900"	"50"	"137"	"0"	"137"	"0"	"c.137T>A"	"r.(?)"	"p.(Val46Asp)"	""
"0000621776"	"00010990"	"50"	"137"	"0"	"137"	"0"	"c.137T>A"	"r.(?)"	"p.(Val46Asp)"	""
"0000652066"	"00025900"	"50"	"-192"	"62"	"-192"	"62"	"c.-192+62T>G"	"r.(=)"	"p.(=)"	""
"0000652066"	"00010990"	"50"	"-298"	"13"	"-298"	"13"	"c.-298+13T>G"	"r.(=)"	"p.(=)"	""
"0000685270"	"00010990"	"90"	"1171"	"0"	"1171"	"0"	"c.1171A>T"	"r.(?)"	"p.(Lys391*)"	""
"0000685271"	"00010990"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000685272"	"00010990"	"90"	"238"	"0"	"238"	"0"	"c.238C>T"	"r.(?)"	"p.(Arg80*)"	""
"0000686202"	"00010990"	"90"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	""
"0000686203"	"00010990"	"50"	"669"	"0"	"669"	"0"	"c.669G>T"	"r.(?)"	"p.(Lys223Asn)"	""
"0000712657"	"00010990"	"50"	"401"	"0"	"401"	"0"	"c.401A>C"	"r.(?)"	"p.(Lys134Thr)"	""
"0000713285"	"00025900"	"90"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000713285"	"00010990"	"90"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000713366"	"00025900"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000713366"	"00010990"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000713479"	"00025900"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000713479"	"00010990"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000713583"	"00025900"	"90"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Ser559*)"	""
"0000713583"	"00010990"	"90"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Ser559*)"	""
"0000721118"	"00025900"	"50"	"1098"	"3"	"1098"	"3"	"c.1098+3G>T"	"r.spl?"	"p.?"	""
"0000721118"	"00010990"	"50"	"1098"	"3"	"1098"	"3"	"c.1098+3G>T"	"r.spl?"	"p.?"	""
"0000731251"	"00010990"	"70"	"1144"	"0"	"1147"	"0"	"c.1144_1147dup"	"r.(?)"	"p.(Asn383Thrfs*15)"	""
"0000732493"	"00010990"	"50"	"1323"	"0"	"1323"	"0"	"c.1323C>T"	"r.(?)"	"p.(Tyr441=)"	""
"0000732506"	"00010990"	"90"	"609"	"0"	"609"	"0"	"c.609A>G"	"r.(?)"	"p.(Leu203=)"	""
"0000732609"	"00010990"	"30"	"2050"	"0"	"2050"	"0"	"c.2050G>C"	"r.(?)"	"p.(Ala684Pro)"	""
"0000733186"	"00010990"	"70"	"1819"	"0"	"1820"	"0"	"c.1819_1820del"	"r.(?)"	"p.(Gln607Valfs*7)"	""
"0000759578"	"00025900"	"90"	"1756"	"0"	"1756"	"0"	"c.1756A>T"	"r.(?)"	"p.(Lys586*)"	""
"0000759578"	"00010990"	"90"	"1756"	"0"	"1756"	"0"	"c.1756A>T"	"r.(?)"	"p.(Lys586*)"	""
"0000760074"	"00025900"	"50"	"661"	"0"	"661"	"0"	"c.661T>G"	"r.(?)"	"p.(Leu221Val)"	""
"0000760074"	"00010990"	"50"	"661"	"0"	"661"	"0"	"c.661T>G"	"r.(?)"	"p.(Leu221Val)"	""
"0000760196"	"00010990"	"50"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000765864"	"00010990"	"70"	"1020"	"0"	"1020"	"0"	"c.1020del"	"r.(?)"	"p.(Lys340AsnfsTer7)"	""
"0000783819"	"00010990"	"90"	"1466"	"0"	"1466"	"0"	"c.1466del"	"r.(?)"	"p.(Leu489CysfsTer104)"	""
"0000783820"	"00010990"	"90"	"871"	"0"	"872"	"0"	"c.871_872del"	"r.(?)"	"p.(Glu291ThrfsTer9)"	""
"0000783821"	"00010990"	"90"	"878"	"0"	"878"	"0"	"c.878del"	"r.(?)"	"p.(Asp293ValfsTer2)"	""
"0000783822"	"00010990"	"90"	"1207"	"0"	"1207"	"0"	"c.1207C>T"	"r.(?)"	"p.(Gln403Ter)"	""
"0000783823"	"00010990"	"90"	"1759"	"0"	"1760"	"0"	"c.1759_1760insAG"	"r.(?)"	"p.(Leu587GlnfsTer7)"	""
"0000783880"	"00010990"	"50"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265Ter)"	""
"0000783920"	"00010990"	"90"	"238"	"0"	"238"	"0"	"c.238C>T"	"r.(?)"	"p.(Arg80Ter)"	""
"0000783921"	"00010990"	"90"	"42"	"0"	"45"	"0"	"c.42_45del"	"r.(?)"	"p.(Lys15GlnfsTer95)"	""
"0000783922"	"00010990"	"90"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265Ter)"	""
"0000786426"	"00010990"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280Ter)"	""
"0000788380"	"00010990"	"50"	"338"	"0"	"338"	"0"	"c.338A>G"	"r.(?)"	"p.(Asn113Ser)"	"4"
"0000790933"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000790934"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000790935"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	"8"
"0000792176"	"00010990"	"90"	"1819"	"0"	"1820"	"0"	"c.1819_1820delCA"	"r.(?)"	"p.(Gln607Valfs*7)"	"9"
"0000792188"	"00010990"	"10"	"634"	"0"	"634"	"0"	"c.634G>T"	"r.(?)"	"p.(Ala212Ser)"	"4"
"0000794332"	"00010990"	"90"	"1819"	"0"	"1820"	"0"	"c.1819_1820del"	"r.(?)"	"p.(Gln607Valfs*7)"	""
"0000795975"	"00010990"	"30"	"301"	"0"	"301"	"0"	"c.301A>G"	"r.(?)"	"p.(Thr101Ala)"	"4"
"0000795977"	"00010990"	"70"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	"5"
"0000796204"	"00010990"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	"5"
"0000796796"	"00010990"	"70"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Arg255Gln)"	"5"
"0000796802"	"00010990"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255*)"	"5"
"0000798498"	"00010990"	"90"	"1062"	"0"	"1068"	"0"	"c.1062_1068del"	"r.(?)"	"p.(Tyr354*)"	"7"
"0000802746"	"00025900"	"50"	"2047"	"0"	"2047"	"0"	"c.2047G>C"	"r.(?)"	"p.(Ala683Pro)"	""
"0000802746"	"00010990"	"50"	"2047"	"0"	"2047"	"0"	"c.2047G>C"	"r.(?)"	"p.(Ala683Pro)"	""
"0000802747"	"00025900"	"50"	"902"	"0"	"902"	"0"	"c.902G>A"	"r.(?)"	"p.(Arg301His)"	""
"0000802747"	"00010990"	"50"	"902"	"0"	"902"	"0"	"c.902G>A"	"r.(?)"	"p.(Arg301His)"	""
"0000811429"	"00010990"	"70"	"923"	"0"	"923"	"0"	"c.923del"	"r.(?)"	"p.(Asn308Ilefs*8)"	""
"0000812468"	"00010990"	"70"	"720"	"1"	"720"	"1"	"c.720+1G>A"	"r.(?)"	"p.(?)"	"4"
"0000812570"	"00010990"	"90"	"1819"	"0"	"1820"	"0"	"c.1819_1820del"	"r.(?)"	"p.(Gln607Valfs*7)"	""
"0000812644"	"00010990"	"90"	"721"	"-2"	"721"	"-2"	"c.721-2A>G"	"r.spl"	"p.(?)"	""
"0000812645"	"00010990"	"90"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	""
"0000812681"	"00010990"	"90"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	""
"0000812682"	"00010990"	"90"	"491"	"0"	"491"	"0"	"c.491A>G"	"r.(?)"	"p.(His164Arg)"	""
"0000813649"	"00025900"	"90"	"69"	"0"	"69"	"0"	"c.69C>G"	"r.(?)"	"p.(Tyr23*)"	""
"0000813649"	"00010990"	"90"	"69"	"0"	"69"	"0"	"c.69C>G"	"r.(?)"	"p.(Tyr23*)"	""
"0000813698"	"00025900"	"90"	"91"	"0"	"91"	"0"	"c.91C>T"	"r.(?)"	"p.(Gln31*)"	""
"0000813698"	"00010990"	"90"	"91"	"0"	"91"	"0"	"c.91C>T"	"r.(?)"	"p.(Gln31*)"	""
"0000813772"	"00025900"	"90"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	""
"0000813772"	"00010990"	"90"	"795"	"0"	"795"	"0"	"c.795T>G"	"r.(?)"	"p.(Tyr265*)"	""
"0000815574"	"00025900"	"50"	"2036"	"0"	"2047"	"0"	"c.2036_2047del"	"r.(?)"	"p.(Val681_Ala684del)"	""
"0000815574"	"00010990"	"50"	"2040"	"0"	"2051"	"0"	"c.2040_2051del"	"r.(?)"	"p.(Val681_Ala684del)"	""
"0000817677"	"00025900"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415*)"	""
"0000817677"	"00010990"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415Ter)"	""
"0000817678"	"00025900"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415*)"	""
"0000817678"	"00010990"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415Ter)"	""
"0000817679"	"00025900"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415*)"	""
"0000817679"	"00010990"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415Ter)"	""
"0000817680"	"00025900"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415*)"	""
"0000817680"	"00010990"	"70"	"1243"	"0"	"1243"	"0"	"c.1243G>T"	"r.(?)"	"p.(Glu415Ter)"	""
"0000819705"	"00025900"	"70"	"631"	"0"	"637"	"0"	"c.631_637del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000819705"	"00010990"	"70"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000819706"	"00025900"	"70"	"631"	"0"	"637"	"0"	"c.631_637del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000819706"	"00010990"	"70"	"633"	"0"	"639"	"0"	"c.633_639del"	"r.(?)"	"p.(Glu211Aspfs*13)"	""
"0000820451"	"00025900"	"70"	"514"	"0"	"517"	"0"	"c.514_517del"	"r.(?)"	"p.(Lys172Asnfs*3)"	""
"0000820451"	"00010990"	"70"	"516"	"0"	"519"	"0"	"c.516_519del"	"r.(?)"	"p.(Lys172Asnfs*3)"	""
"0000820921"	"00025900"	"70"	"401"	"0"	"401"	"0"	"c.401A>C"	"r.(?)"	"p.(Lys134Thr)"	""
"0000820921"	"00010990"	"70"	"401"	"0"	"401"	"0"	"c.401A>C"	"r.(?)"	"p.(Lys134Thr)"	""
"0000821287"	"00025900"	"70"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000821287"	"00010990"	"70"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000821288"	"00025900"	"70"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000821288"	"00010990"	"70"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000821289"	"00025900"	"90"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Ser559*)"	""
"0000821289"	"00010990"	"90"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Ser559*)"	""
"0000823254"	"00025900"	"50"	"103"	"0"	"103"	"0"	"c.103C>T"	"r.(?)"	"p.(Arg35*)"	""
"0000823254"	"00010990"	"50"	"103"	"0"	"103"	"0"	"c.103C>T"	"r.(?)"	"p.(Arg35*)"	""
"0000823286"	"00025900"	"70"	"191"	"0"	"191"	"0"	"c.191del"	"r.(?)"	"p.(Pro65Leufs*46)"	""
"0000823286"	"00010990"	"70"	"194"	"0"	"194"	"0"	"c.194del"	"r.(?)"	"p.(Pro65Leufs*46)"	""
"0000823366"	"00025900"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000823366"	"00010990"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000823367"	"00025900"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000823367"	"00010990"	"90"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280*)"	""
"0000823368"	"00025900"	"50"	"955"	"0"	"955"	"0"	"c.955G>A"	"r.(?)"	"p.(Ala319Thr)"	""
"0000823368"	"00010990"	"50"	"955"	"0"	"955"	"0"	"c.955G>A"	"r.(?)"	"p.[Ala319Thr;?]"	""
"0000825667"	"00010990"	"70"	"1819"	"0"	"1820"	"0"	"c.1819_1820del"	"r.(?)"	"p.(Gln607Valfs*7)"	"9"
"0000844371"	"00025900"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000844371"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000845004"	"00025900"	"70"	"-191"	"-5332"	"-191"	"-3735"	"c.-191-5332_-191-3735del"	"r.(=)"	"p.(=)"	""
"0000845004"	"00010990"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.0?"	""
"0000845005"	"00025900"	"70"	"-191"	"-5332"	"-191"	"-3735"	"c.-191-5332_-191-3735del"	"r.(=)"	"p.(=)"	""
"0000845005"	"00010990"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.0?"	""
"0000845006"	"00025900"	"70"	"-191"	"-5332"	"-191"	"-3735"	"c.-191-5332_-191-3735del"	"r.(=)"	"p.(=)"	""
"0000845006"	"00010990"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.0?"	""
"0000845007"	"00025900"	"70"	"-191"	"-5332"	"-191"	"-3735"	"c.-191-5332_-191-3735del"	"r.(=)"	"p.(=)"	""
"0000845007"	"00010990"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.0?"	""
"0000845008"	"00025900"	"70"	"-191"	"-5332"	"-191"	"-3735"	"c.-191-5332_-191-3735del"	"r.(=)"	"p.(=)"	""
"0000845008"	"00010990"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.0?"	""
"0000845123"	"00025900"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000845123"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000845124"	"00025900"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000845124"	"00010990"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000845214"	"00025900"	"70"	"784"	"0"	"784"	"0"	"c.784del"	"r.(?)"	"p.(Arg263Glyfs*23)"	""
"0000845214"	"00010990"	"70"	"787"	"0"	"787"	"0"	"c.787del"	"r.(?)"	"p.(Arg263Glyfs*23)"	""
"0000845216"	"00025900"	"70"	"604"	"0"	"604"	"0"	"c.604T>C"	"r.(?)"	"p.(Ser202Pro)"	""
"0000845216"	"00010990"	"70"	"604"	"0"	"604"	"0"	"c.604T>C"	"r.(?)"	"p.(Ser202Pro)"	""
"0000845220"	"00025900"	"70"	"1149"	"0"	"1149"	"0"	"c.1149del"	"r.(?)"	"p.(Pro384Glnfs*18)"	""
"0000845220"	"00010990"	"70"	"1151"	"0"	"1151"	"0"	"c.1151del"	"r.(?)"	"p.(Pro384Glnfs*18)"	""
"0000845222"	"00025900"	"70"	"634"	"0"	"634"	"0"	"c.634G>C"	"r.(?)"	"p.(Ala212Pro)"	""
"0000845222"	"00010990"	"70"	"634"	"0"	"634"	"0"	"c.634G>C"	"r.(?)"	"p.(Ala212Pro)"	""
"0000845223"	"00025900"	"70"	"634"	"0"	"634"	"0"	"c.634G>C"	"r.(?)"	"p.(Ala212Pro)"	""
"0000845223"	"00010990"	"70"	"634"	"0"	"634"	"0"	"c.634G>C"	"r.(?)"	"p.(Ala212Pro)"	""
"0000845224"	"00025900"	"70"	"1322"	"0"	"1322"	"0"	"c.1322A>G"	"r.(?)"	"p.(Tyr441Cys)"	""
"0000845224"	"00010990"	"70"	"1322"	"0"	"1322"	"0"	"c.1322A>G"	"r.(?)"	"p.(Tyr441Cys)"	""
"0000845225"	"00025900"	"70"	"1322"	"0"	"1322"	"0"	"c.1322A>G"	"r.(?)"	"p.(Tyr441Cys)"	""
"0000845225"	"00010990"	"70"	"1322"	"0"	"1322"	"0"	"c.1322A>G"	"r.(?)"	"p.(Tyr441Cys)"	""
"0000846618"	"00025900"	"50"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Ser)"	""
"0000846618"	"00010990"	"50"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Leu24Ser)"	""
"0000846619"	"00025900"	"50"	"77"	"0"	"77"	"0"	"c.77A>C"	"r.(?)"	"p.(Asp26Ala)"	""
"0000846619"	"00010990"	"50"	"77"	"0"	"77"	"0"	"c.77A>C"	"r.(?)"	"p.(Asp26Ala)"	""
"0000846620"	"00025900"	"50"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000846620"	"00010990"	"50"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000846621"	"00025900"	"10"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Pro548Ser)"	""
"0000846621"	"00010990"	"10"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Pro548Ser)"	""
"0000846622"	"00025900"	"50"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000846622"	"00010990"	"50"	"1967"	"0"	"1967"	"0"	"c.1967G>A"	"r.(?)"	"p.(Gly656Asp)"	""
"0000846623"	"00025900"	"50"	"858"	"77"	"858"	"77"	"c.858+77C>T"	"r.(=)"	"p.(=)"	""
"0000846623"	"00010990"	"50"	"858"	"77"	"858"	"77"	"c.858+77C>T"	"r.(?)"	"p.(?)"	""
"0000846624"	"00025900"	"50"	"858"	"127"	"858"	"129"	"c.858+127_858+129del"	"r.(=)"	"p.(=)"	""
"0000846624"	"00010990"	"50"	"858"	"127"	"858"	"129"	"c.858+127_858+129delATC"	"r.(?)"	"p.(?)"	""
"0000847387"	"00010990"	"50"	"334"	"0"	"334"	"0"	"c.334A>G"	"r.(?)"	"p.(Ile112Val)"	"4"
"0000851324"	"00025900"	"30"	"325"	"0"	"325"	"0"	"c.325C>T"	"r.(?)"	"p.(Leu109=)"	""
"0000851324"	"00010990"	"30"	"325"	"0"	"325"	"0"	"c.325C>T"	"r.(?)"	"p.(Leu109=)"	""
"0000916041"	"00010990"	"50"	"664"	"0"	"664"	"0"	"c.664G>C"	"r.(?)"	"p.(Ala222Pro)"	"4"
"0000916042"	"00010990"	"50"	"1825"	"0"	"1825"	"0"	"c.1825T>C"	"r.(?)"	"p.(Phe609Leu)"	"9"
"0000916099"	"00010990"	"90"	"535"	"0"	"536"	"0"	"c.535_536insT"	"r.(?)"	"p.(Gln179Leufs*8)"	"4"
"0000916489"	"00010990"	"50"	"131"	"0"	"131"	"0"	"c.131C>A"	"r.(?)"	"p.(Ala44Glu)"	"3"
"0000916490"	"00010990"	"50"	"1988"	"0"	"1988"	"0"	"c.1988G>T"	"r.(?)"	"p.(Arg663Ile)"	"9"
"0000916679"	"00010990"	"70"	"823"	"0"	"823"	"0"	"c.[823C>A;829del]"	"r.(?)"	"p.[(Gln275Lys);(Glu277Argfs*9)]"	"5"
"0000916680"	"00010990"	"70"	"823"	"0"	"823"	"0"	"c.[823C>A;829del]"	"r.(?)"	"p.[(Gln275Lys);(Glu277Argfs*9)]"	"5"
"0000916681"	"00010990"	"70"	"823"	"0"	"823"	"0"	"c.[823C>A;829del]"	"r.(?)"	"p.[(Gln275Lys);(Glu277Argfs*9)]"	"5"
"0000916682"	"00010990"	"70"	"823"	"0"	"823"	"0"	"c.[823C>A;829del]"	"r.(?)"	"p.[(Gln275Lys);(Glu277Argfs*9)]"	"5"
"0000959475"	"00025900"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Ter)"	""
"0000964284"	"00025900"	"30"	"1323"	"0"	"1323"	"0"	"c.1323C>T"	"r.(?)"	"p.(=)"	""
"0000964284"	"00010990"	"30"	"1323"	"0"	"1323"	"0"	"c.1323C>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 199
"{{screeningid}}"	"{{variantid}}"
"0000059776"	"0000090892"
"0000059822"	"0000091014"
"0000059823"	"0000091015"
"0000059824"	"0000091016"
"0000059825"	"0000091017"
"0000059826"	"0000091018"
"0000059827"	"0000091019"
"0000059828"	"0000091020"
"0000059829"	"0000091021"
"0000059830"	"0000091022"
"0000059831"	"0000091023"
"0000059832"	"0000091024"
"0000059833"	"0000091026"
"0000059834"	"0000091027"
"0000059835"	"0000091028"
"0000059836"	"0000091029"
"0000059837"	"0000091030"
"0000059838"	"0000091031"
"0000059839"	"0000091032"
"0000059840"	"0000091033"
"0000059841"	"0000091034"
"0000059842"	"0000091035"
"0000059843"	"0000091036"
"0000059844"	"0000091037"
"0000059845"	"0000091038"
"0000059846"	"0000091039"
"0000059847"	"0000091040"
"0000059848"	"0000091041"
"0000059849"	"0000091042"
"0000059850"	"0000091043"
"0000059851"	"0000091046"
"0000059852"	"0000091047"
"0000059853"	"0000091050"
"0000059854"	"0000091051"
"0000059855"	"0000091052"
"0000059856"	"0000091053"
"0000059857"	"0000091054"
"0000059858"	"0000091058"
"0000059859"	"0000091065"
"0000059860"	"0000091066"
"0000059861"	"0000091069"
"0000059862"	"0000091072"
"0000059863"	"0000091073"
"0000059864"	"0000091074"
"0000059866"	"0000091078"
"0000059867"	"0000091085"
"0000059868"	"0000091086"
"0000059869"	"0000091087"
"0000059870"	"0000091088"
"0000059871"	"0000091089"
"0000059872"	"0000091090"
"0000059873"	"0000091092"
"0000059874"	"0000091093"
"0000059904"	"0000091152"
"0000059905"	"0000091153"
"0000059906"	"0000091154"
"0000059907"	"0000091156"
"0000059908"	"0000091159"
"0000059909"	"0000091160"
"0000059913"	"0000091178"
"0000059914"	"0000091179"
"0000060144"	"0000091025"
"0000060145"	"0000091045"
"0000060146"	"0000091048"
"0000060146"	"0000091049"
"0000060147"	"0000091055"
"0000060148"	"0000091056"
"0000060148"	"0000091057"
"0000060149"	"0000091059"
"0000060149"	"0000091060"
"0000060150"	"0000091061"
"0000060151"	"0000091062"
"0000060152"	"0000091064"
"0000060153"	"0000091067"
"0000060153"	"0000091068"
"0000060154"	"0000091070"
"0000060154"	"0000091071"
"0000060155"	"0000091076"
"0000060155"	"0000091077"
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