### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NR2E3)
# 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}}"
"NR2E3"	"nuclear receptor subfamily 2, group E, member 3"	"15"	"q23"	"unknown"	"NG_009113.2"	"UD_132118992244"	""	"http://www.LOVD.nl/NR2E3"	""	"1"	"7974"	"10002"	"604485"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	""	"g"	"http://databases.lovd.nl/shared/refseq/NR2E3_NM_014249.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases</font>. It was established to group all sequence variant information on NR2E3-linked retinal degenerations, including enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant retinitis pigmentosa (adRP)."	"-1"	""	"-1"	"00001"	"2009-05-28 00:00:00"	"00006"	"2021-04-19 17:39:28"	"00000"	"2025-07-08 13:22:38"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00025608"	"NR2E3"	"transcript variant 2"	"001"	"NM_014249.3"	""	"NP_055064.1"	""	""	""	"-196"	"1809"	"1234"	"72102888"	"72110600"	"00006"	"2021-04-19 16:30:41"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"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"
"00386"	"RP37"	"retinitis pigmentosa, type 37 (RP37)"	"AD;AR"	"611131"	""	""	""	"00006"	"2014-05-28 08:39:26"	"00006"	"2021-12-10 21:51:32"
"00387"	"ESCS"	"S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)"	"AR"	"268100"	""	""	""	"00006"	"2014-05-28 08:42:36"	"00006"	"2021-12-10 21:51:32"
"04209"	"RPad"	"retinitis pigmentosa, autosomal dominant (RPad)"	""	""	""	""	""	"00006"	"2015-02-27 18:53:37"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05415"	"USH"	"Usher syndrome (USH)"	""	""	""	""	""	"00006"	"2018-04-02 16:40:44"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"NR2E3"	"00112"
"NR2E3"	"00386"
"NR2E3"	"00387"


## Individuals ## Do not remove or alter this header ##
## Count = 424
"{{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}}"
"00032723"	""	""	""	"4"	""	"00223"	"{PMID:Haider 2000:10655056}"	""	""	""	""	""	"0"	""	""	"Syrian/Lebanese"	""
"00032724"	""	""	""	"2"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032725"	""	""	""	"2"	""	"00223"	"{PMID:Wright 2004:15459973}"	"2 families, 2 cases"	""	""	"Germany"	""	"0"	""	""	""	""
"00032726"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"Cuba"	""	"0"	""	""	""	""
"00032727"	""	""	""	"1"	""	"00223"	"{PMID:Khan 2007:15459973}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	"Saudi Arabian"	""
"00032728"	""	""	""	"1"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032729"	""	""	""	"8"	""	"00223"	"{PMID:Bandah 2009:19273793}"	"4 families, 8 cases"	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	""
"00032730"	""	""	""	"1"	""	"00223"	"{PMID:Bonilha 2009:19852574}"	""	""	""	""	""	"0"	""	""	""	""
"00032731"	""	""	""	"1"	""	"00223"	"{PMID:Sharon 2003:12963616}"	""	""	""	""	""	"0"	""	""	""	""
"00032732"	""	""	""	"2"	""	"00223"	"{PMID:Bernal 2008:18294254}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00032733"	""	""	""	"1"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032734"	""	""	""	"1"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032735"	""	""	""	"2"	""	"00223"	"{PMID:Haider 2000:10655056}"	"2 families, 2 cases"	""	""	""	""	"0"	""	""	""	""
"00032736"	""	""	""	"1"	""	"00223"	"{PMID:Haider 2000:10655056}"	""	""	""	""	""	"0"	""	""	""	""
"00032737"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00032738"	""	""	""	"3"	""	"00223"	"{PMID:Haider 2000:10655056}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	""
"00032739"	""	""	""	"3"	""	"00223"	"{PMID:Vaclavik 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032740"	""	""	""	"2"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032741"	""	""	""	"1"	""	"00223"	"Galantuomo 2008"	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00032742"	""	""	""	"6"	""	"00223"	"{PMID:Wright 2004:15459973}"	"5 families, 6 cases"	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032743"	""	""	""	"1"	""	"00223"	"{PMID:Nakamura 2002:11931802}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00032744"	""	""	""	"1"	""	"00223"	"{PMID:Khan 2007:15459973}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00032745"	""	""	""	"1"	""	"00223"	"{PMID:Bernal 2008:18294254}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00032746"	""	""	""	"1"	""	"00223"	"{PMID:Iannaccone et al.2009:18835469}"	""	""	""	"Italy"	""	"0"	""	""	"Italy;Jewish"	""
"00032747"	""	""	""	"2"	""	"00223"	"{PMID:Chavala 2005:16024868}"	""	""	""	""	""	"0"	""	""	"Arab Emirates"	""
"00032748"	""	""	""	"1"	""	"00223"	"{PMID:Bernal 2008:18294254}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00032749"	""	""	""	"3"	""	"00223"	"{PMID:Pachydaki 2009:19139342}"	"2 families, 3 cases"	""	""	""	""	"0"	""	""	""	""
"00032750"	""	""	""	"2"	""	"00223"	"{PMID:Sharon 2003:12963616}"	"2 families, 2 cases"	""	""	""	""	"0"	""	""	""	""
"00032751"	""	""	""	"27"	""	"00223"	"{PMID:Gerber 2000:11071390}"	""	""	""	""	""	"0"	""	""	"Iberi;Jewish-Crypto"	""
"00032752"	""	""	""	"1"	""	"00223"	"{PMID:Bandah 2009:19273793}"	""	""	""	"Morocco"	""	"0"	""	""	"Jewish"	""
"00032753"	""	""	""	"5"	""	"00223"	"{PMID:Bandah 2009:19273793}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	""
"00032754"	""	""	""	"3"	""	"00223"	"{PMID:Bernal 2008:18294254}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00032755"	""	""	""	"1"	""	"00223"	"{PMID:Nakamura 2004:15453866}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00032756"	""	""	""	"1"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032757"	""	""	""	"2"	""	"00223"	"{PMID:Haider 2000:10655056}"	""	""	""	""	""	"0"	""	""	"Spanish-Italian"	""
"00032758"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032759"	""	""	""	"1"	""	"00223"	"{PMID:Sharon 2003:12963616}"	""	""	""	""	""	"0"	""	""	""	""
"00032760"	""	""	""	"2"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032761"	""	""	""	"1"	""	"00223"	"{PMID:Sharon 2003:12963616}"	""	""	""	""	""	"0"	""	""	""	""
"00032762"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British/American"	""
"00032763"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00032764"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British/Amerindian"	""
"00032765"	""	""	""	"3"	""	"00223"	"{PMID:Sharon 2003:12963616}"	"2 families, 3 cases"	""	""	""	""	"0"	""	""	""	""
"00032766"	""	""	""	"1"	""	"00223"	"{PMID:Lam 2007:17601449}"	""	""	""	""	""	"0"	""	""	""	""
"00032767"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"British/Italian"	""
"00032768"	""	""	""	"1"	""	"00223"	"{PMID:Sharon 2003:12963616}"	""	""	""	""	""	"0"	""	""	""	""
"00032769"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"Europe, west"	""
"00032770"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032771"	""	""	""	"1"	""	"00223"	"{PMID:Audo 2008:18436841}"	""	""	""	""	""	"0"	""	""	""	""
"00032772"	""	""	""	"2"	""	"00223"	"{PMID:Sharon 2003:12963616}"	"2 families, 2 cases"	""	""	""	""	"0"	""	""	""	""
"00032773"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	""
"00032774"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00032775"	""	""	""	"45"	""	"00223"	"{PMID:Coppieters 2007:17564971}"	"3 families, 45 cases"	""	""	""	""	"0"	""	""	"Belgian/French"	""
"00032776"	""	""	""	"22"	""	"00223"	"{PMID:Gire 2007:17982421}"	"3 families, 22 cases"	""	""	""	""	"0"	""	""	"white"	""
"00032777"	""	""	""	"11"	""	"00223"	"{PMID:Escher 2009:19006237}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss"	""
"00032778"	""	""	""	"3"	""	"00223"	"{PMID:Escher 2009:19006237}"	""	""	""	"United States"	""	"0"	""	""	"Jewish-American"	""
"00032779"	""	""	""	"2"	""	"00223"	"{PMID:Escher 2009:19006237}"	""	""	""	"United States"	""	"0"	""	""	"Jewish-American"	""
"00032780"	""	""	""	"1"	""	"00223"	"{PMID:Bandah 2009:19273793}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032781"	""	""	""	"1"	""	"00223"	"{PMID:Sharon 2003:12963616}"	""	""	""	""	""	"0"	""	""	""	""
"00032782"	""	""	""	"1"	""	"00223"	"{PMID:Pachydaki 2009:19139342}"	""	""	""	""	""	"0"	""	""	""	""
"00032783"	""	""	""	"1"	""	"00223"	"{PMID:Hayashi 2005:16225923}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00032784"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00032785"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"British/German"	""
"00032786"	""	""	""	"1"	""	"00223"	"{PMID:Bandah 2009:19273793}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032787"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00032788"	""	""	""	"1"	""	"00223"	"{PMID:Pachydaki 2009:19139342}"	""	""	""	""	""	"0"	""	""	""	""
"00032789"	""	""	""	"1"	""	"00223"	"{PMID:Wright 2004:15459973}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00032790"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032791"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032792"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032793"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032794"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032795"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032796"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032797"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032798"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032799"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032800"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032801"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032802"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032803"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032804"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032805"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032806"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032807"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032808"	""	""	""	"1"	""	"00223"	"{PMID:Schorderet and Escher 2009:19718767}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss"	""
"00032809"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032810"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032811"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032812"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032813"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032814"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032815"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032816"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032832"	""	""	""	"9"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032833"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032834"	""	""	""	"1"	""	"00223"	"{PMID:Collin 2011:21217109}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00032835"	""	""	""	"3"	""	"00223"	"{PMID:Khan 2010:20212206}"	"3 families, 1 case"	""	""	"Saudi Arabia"	""	"0"	""	""	"Saudi Arabian"	""
"00032836"	""	""	""	"2"	""	"00223"	"{PMID:Yang 2010:19933183}"	"2 families, 2 cases"	""	""	""	""	"0"	""	""	"Chinese"	""
"00032837"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032838"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032839"	""	""	""	"1"	""	"00223"	"{PMID:Rocha-Sousa 2010:20725840}"	""	""	""	"Portugal"	""	"0"	""	""	"Portuguese"	""
"00032840"	""	""	""	"1"	""	"00223"	"Collin 2010"	""	""	""	"Morocco"	""	"0"	""	""	""	""
"00032841"	""	""	""	"16"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032842"	""	""	""	"3"	""	"00223"	""	"3 families, 3 cases"	""	""	""	""	"0"	""	""	"Chinese"	""
"00032843"	""	""	""	"46"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032844"	""	""	""	"2"	""	"00223"	"{PMID:Collin 2011:21217109}"	"2 families, 1 case"	""	""	"Netherlands"	""	"0"	""	""	""	""
"00032845"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032846"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032847"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032848"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032849"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032850"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	""	""
"00032851"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00032852"	""	""	""	"1"	""	"00223"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00033152"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033346"	""	""	""	"1"	""	"00039"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	""	""	"0"	""	""	""	""
"00033617"	""	""	""	"1"	""	"00223"	"{PMID:Kuniyoshi 2013:23374571}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00033618"	""	""	""	"1"	""	"00223"	"{PMID:Kuniyoshi 2013:23374571}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00033619"	""	""	""	"1"	""	"00223"	"{PMID:Udar 2011:21364904}"	""	"F"	""	"Brazil"	""	"0"	""	""	"Brazilian"	""
"00033620"	""	""	""	"1"	""	"00223"	"{PMID:Udar 2011:21364904}"	""	""	""	""	""	"0"	""	""	"Persian"	""
"00033621"	""	""	""	"5"	""	"00223"	"{PMID:Siemiatkowska 2011:22128245}"	""	""	""	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00033622"	""	""	""	"1"	""	"00223"	"{PMID:Cima 2012:22711506}"	""	""	""	"Croatia (Hrvatska)"	""	"0"	""	""	""	""
"00033623"	""	""	""	"2"	""	"00223"	"{PMID:Bocquet 2013:24339724}"	"2-generation family, 2 affected sibs (F, M)"	"F;M"	"yes"	"France"	""	"0"	""	""	""	"RP670"
"00033624"	""	""	""	"1"	""	"00223"	"{PMID:Ripamonti 2014:24425859}"	""	""	""	""	""	"0"	""	""	""	""
"00033625"	""	""	""	"1"	""	"00223"	"{PMID:Park 2013:23604511}"	""	""	""	""	""	"0"	""	""	""	""
"00033626"	""	""	""	"1"	""	"00223"	"{PMID:Park 2013:23604511}"	""	""	""	""	""	"0"	""	""	""	""
"00033627"	""	""	""	"1"	""	"00223"	"{PMID:Park 2013:23604511}"	""	""	""	""	""	"0"	""	""	""	""
"00033628"	""	""	""	"1"	""	"00223"	"{PMID:Cassiman 2012:23039133}"	""	""	""	""	""	"0"	""	""	""	""
"00033629"	""	""	""	"6"	""	"00223"	"{PMID:Audo 2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00033630"	""	""	""	"1"	""	"00223"	"{PMID:Sullivan 2013:23950152}"	""	""	""	"Canada;United States"	""	"0"	""	""	""	""
"00033631"	""	""	""	"9"	""	"00223"	"{PMID:Escher 2012:22661467}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss"	""
"00033632"	""	""	""	"3"	""	"00223"	"{PMID:Escher 2012:22661467}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss"	""
"00033633"	""	""	""	"1"	""	"00223"	"{PMID:Escher 2012:22661467}"	""	""	""	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00033634"	""	""	""	"9"	""	"00223"	"{PMID:Kawasaki 2012:22807301}"	"2 families, 9 cases"	""	""	"France"	""	"0"	""	""	""	""
"00033635"	""	""	""	"3"	""	"00223"	"{PMID:Kannabiran 2012:22605927}"	""	""	""	"India"	""	"0"	""	""	"Indian"	""
"00033636"	""	""	""	"1"	""	"00223"	"{PMID:Yzer 2013:23989059}"	""	""	""	""	""	"0"	""	""	""	""
"00050580"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"affected, unknown family members"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00100089"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61150"
"00155507"	""	""	""	"2"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0045"
"00155508"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155509"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL0506"
"00155510"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"M"	"no"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	"MOL1433"
"00155511"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL0528"
"00155512"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155513"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	""
"00209005"	""	""	""	"1"	""	"00006"	"{PMID:Lionel 2018:28771251}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"28771251-Pat06"
"00233275"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233276"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233277"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233278"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233279"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233280"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233281"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233282"	""	""	""	"78"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233283"	""	""	""	"9"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233284"	""	""	""	"465"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233285"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233286"	""	""	""	"467"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233287"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233288"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233289"	""	""	""	"18"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233290"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233291"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233781"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233782"	""	""	""	"89"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233783"	""	""	""	"88"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00291290"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295703"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00300599"	""	""	""	"1"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Italy"	""	"0"	""	""	""	"Fam32P37"
"00300600"	""	""	""	"1"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Italy"	""	"0"	""	""	""	"Fam32P38"
"00307694"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00308746"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00309246"	""	""	""	"7"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"7 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309247"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309248"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309249"	""	""	""	"1"	""	"00004"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"TB134"
"00309250"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309252"	""	""	""	"5"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"5 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309253"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309254"	""	""	""	"5"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"5 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309255"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}"	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00309256"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309257"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309668"	""	""	""	"1"	""	"00006"	"{PMID:Jinda 2014:24618324}"	""	"F"	""	"Thailand"	""	"0"	""	""	""	"RP010"
"00325417"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"497"
"00325500"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"3672"
"00327936"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240063"
"00328249"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G008995"
"00328339"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"W000374"
"00331281"	""	""	""	"1"	""	"00000"	"{PMID:Maeda 2018:29785639}"	"patient, no family history"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat35"
"00332201"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB32"
"00332202"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB181"
"00332203"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB48"
"00332535"	""	""	""	"1"	""	"00006"	"{PMID:Comander 2017:28981474}"	"proband, affected sister"	"F"	""	"United States"	""	"0"	""	""	""	"Pat17"
"00333360"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat14"
"00333850"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"48"
"00333910"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"277"
"00333994"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"482"
"00333995"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"483"
"00333996"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"484"
"00334464"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2016:27874104}"	"family"	""	""	"Tunisia"	""	"0"	""	""	""	"F4"
"00334557"	""	""	""	"1"	""	"00000"	"{PMID:Jinda 2017:28453600}"	"patient"	""	""	"Thailand"	""	"0"	""	""	""	"RP010"
"00335128"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"7034"
"00335129"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"9731"
"00335339"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat109"
"00335585"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_043"
"00335586"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_044"
"00358718"	""	""	""	"1"	""	"00000"	"{PMID:Carrigan 2016:27624628}"	""	""	""	"Ireland"	""	"0"	""	""	""	""
"00359115"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13012950"
"00359364"	""	""	""	"1"	""	"00000"	"{PMID:Bravo-Gil 2016:27032803}"	"see paper"	""	""	"Spain"	""	"0"	""	""	""	"258"
"00362887"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"ADRP18"
"00363241"	""	""	""	"1"	""	"00000"	"{PMID:Neuhaus 2017:28944237}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat93"
"00363460"	""	""	""	"1"	""	"00000"	"{PMID:Ge 2015:26667666}"	"simplex case"	""	""	"United States"	""	"0"	""	""	""	"3V5+8.13"
"00363597"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG01042"
"00363600"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG01072"
"00363604"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG01497"
"00363607"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG01634"
"00363625"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"10DG1116"
"00363713"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG2180"
"00363871"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	"family"	"M"	""	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL1266"
"00363872"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00372642"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP215"
"00372643"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP291"
"00373378"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373815"	""	""	""	"1"	""	"00000"	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat12"
"00374938"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"W29-1"
"00375336"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"simplex case"	""	""	"Japan"	""	"0"	""	""	""	"K6189"
"00375420"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#012"
"00376752"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"12"
"00376755"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"15"
"00376767"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"29"
"00376778"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"44"
"00377207"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"301"
"00377258"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"374"
"00377382"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377383"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377384"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377385"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377386"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377387"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377388"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377923"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"yes"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377924"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"F"	"yes"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377925"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"F"	"yes"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377926"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"yes"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377927"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"yes"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377944"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00379382"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379383"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379384"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379578"	""	""	""	"1"	""	"00000"	"{PMID:kannabiran-2012:22605927}"	""	"M"	""	"India"	""	"0"	""	""	"Indian"	""
"00379579"	""	""	""	"1"	""	"00000"	"{PMID:kannabiran-2012:22605927}"	""	"M"	""	"India"	""	"0"	""	""	"Indian"	""
"00379614"	""	""	""	"5"	""	"00000"	"{PMID:Blanco-Kelly-2012:22736939}"	""	""	""	"Spain"	""	"0"	""	""	"spanish"	""
"00379615"	""	""	""	"1"	""	"00000"	"{PMID:Blanco-Kelly-2012:22736939}"	""	""	""	"Spain"	""	"0"	""	""	"spanish"	""
"00380125"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2018:30054919}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"09DG01165"
"00380128"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2018:30054919}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"10DG0901"
"00380142"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2018:30054919}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"14DG0753"
"00380185"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2018:30337596}"	"Family RP173"	"?"	"?"	"Spain"	""	"0"	""	""	""	"?"
"00380307"	""	""	""	"2"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00380308"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00380378"	""	""	""	"1"	""	"00000"	"{PMID:Bocquet-2013:23350551}"	""	""	"yes"	"France"	""	"0"	""	""	""	""
"00381049"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381233"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"patient carry mutation known cause other retinal diseases. Enhanced S-cone syndrome"	""	"no"	""	""	"0"	""	""	""	""
"00381678"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381778"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381875"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"25"
"00381876"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"26"
"00381877"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"27"
"00381914"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"64"
"00382328"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"157"
"00382329"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"158"
"00382330"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"159"
"00382331"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"160"
"00382332"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"161"
"00382850"	""	""	""	"1"	""	"00000"	"{PMID:Beryozkin-2014:24474277}"	""	""	"yes"	""	""	"0"	""	""	"Arab-Muslim"	""
"00382856"	""	""	""	"3"	""	"00000"	"{PMID:Beryozkin-2014:24474277}"	""	""	"yes"	"Yemen"	""	"0"	""	""	"Yemenite;Jewish"	""
"00383448"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383449"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383774"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18070931_A"
"00384014"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1658"
"00384048"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1912"
"00384091"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2221"
"00384094"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2245"
"00384100"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2298"
"00384107"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2350"
"00384109"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2365"
"00384117"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2404"
"00384137"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2559"
"00384148"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2702"
"00384160"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2820"
"00384174"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2963"
"00384767"	""	""	""	"4"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00386546"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"001-055"
"00386585"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"003-328"
"00386600"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"099-004"
"00386632"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-134"
"00386665"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-428"
"00386738"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2881_004466"
"00386771"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2920_004505"
"00386777"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2928_004513"
"00386894"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2878_004463"
"00386896"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2895_004480"
"00386898"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2948_004533"
"00387516"	""	""	""	"1"	""	"00000"	"{PMID:Matsui 2015:26393467}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00387669"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"57"
"00388192"	""	""	""	"1"	""	"00006"	"{PMID:Lingao 2016:26894784}"	""	""	""	""	""	"0"	""	""	""	"Pat2"
"00388193"	""	""	""	"1"	""	"00006"	"{PMID:Lingao 2016:26894784}"	""	""	""	""	""	"0"	""	""	""	"Pat3"
"00388194"	""	""	""	"1"	""	"00006"	"{PMID:Lingao 2016:26894784}"	""	""	""	""	""	"0"	""	""	""	"Pat4"
"00388717"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 2, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1"
"00388718"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 2, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"2"
"00388750"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"34"
"00388751"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"35"
"00388752"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"36"
"00388753"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"37"
"00388754"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"38"
"00388755"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"39"
"00389051"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 111, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"335"
"00389052"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 111, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"336"
"00389081"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 122, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"365"
"00389252"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 185, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"536"
"00389414"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 259, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"698"
"00389415"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 259, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"699"
"00389471"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 292, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"755"
"00389472"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 292, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"756"
"00389560"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 348, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"844"
"00389608"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 374, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"892"
"00389647"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 403, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"931"
"00389652"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 410, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"936"
"00389856"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 790, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1140"
"00389893"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 860, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1177"
"00389900"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 871, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1184"
"00389956"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1006, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1240"
"00390322"	""	""	""	"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"	""	""	""	"G001279"
"00390323"	""	""	""	"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"	""	""	""	"G005499"
"00390324"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G008995"
"00390325"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000374"
"00390773"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00391364"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"20"
"00391756"	""	""	""	"1"	""	"00000"	"{PMID:DiScipio 2020:32881472}"	""	"M"	""	""	""	"0"	""	""	""	"1.II:1"
"00394481"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394482"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00396480"	""	""	""	"1"	""	"00000"	"{PMID:Dockery 2017:29099798}"	"no patient numbers in the paper, consecutive numbers given"	"?"	""	"Ireland"	""	"0"	""	""	""	"13"
"00399788"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	""	"F"	"yes"	""	""	"0"	""	""	"India"	"IV:1"
"00408062"	""	""	""	"1"	""	"00000"	"{PMID:Chebil 2016:26868535}"	"1 patient, 1 family"	"?"	""	"France"	""	"0"	""	""	"Tunisia"	"Family ?"
"00411010"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2007:17322467}"	""	"F"	"yes"	"(Saudi Arabia)"	""	"0"	""	""	""	"Case 1"
"00411011"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2007:17322467}"	""	"M"	""	"(Saudi Arabia)"	""	"0"	""	""	""	"Case 3"
"00411012"	""	""	""	"1"	""	"00000"	"{PMID:Manayath 2014:24891813}"	""	"F"	""	"India"	""	"0"	""	""	"Indian"	"Patient 1"
"00411013"	""	""	""	"1"	""	"00000"	"{PMID:Manayath 2014:24891813}"	""	"M"	""	"India"	""	"0"	""	""	"Indian"	"Patient 2"
"00411014"	""	""	""	"1"	""	"00000"	"{PMID:Collision 2016:27033713}"	""	"M"	""	""	""	"0"	""	""	""	"ESCS1"
"00411015"	""	""	""	"1"	""	"00000"	"{PMID:Collision 2017:27033713}"	""	"F"	""	""	""	"0"	""	""	""	"ESCS2"
"00411016"	""	""	""	"1"	""	"00000"	"{PMID:Collision 2018:27033713}"	""	"M"	""	""	""	"0"	""	""	""	"ESCS3"
"00411017"	""	""	""	"1"	""	"00000"	"{PMID:Collision 2019:27033713}"	""	"F"	""	""	""	"0"	""	""	""	"ESCS4"
"00411018"	""	""	""	"1"	""	"00000"	"{PMID:Kuniyoshi 2016:27522502}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"Patient 1"
"00411019"	""	""	""	"1"	""	"00000"	"{PMID:Kuniyoshi 2016:27522502}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"Patient 2"
"00411020"	""	""	""	"1"	""	"00000"	"{PMID:Termuhlen 2016:27573156}"	""	"M"	""	""	""	"0"	""	""	""	""
"00411021"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P1/F1"
"00411022"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P2/F2"
"00411023"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P3/F3"
"00411024"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P4/F2"
"00411025"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P5/F4"
"00411026"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P6/F5"
"00411027"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P7/F1"
"00411028"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P8/F6"
"00411029"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P9/F7"
"00411030"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P10/F1"
"00411031"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P11/F8"
"00411032"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P12/F9"
"00411033"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P13/F10"
"00411034"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P14/F11"
"00411035"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P15/F12"
"00411036"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P16/F13"
"00411037"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P17/F14"
"00411038"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P18/F15"
"00411039"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P19/F13"
"00411040"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P20/F16"
"00411041"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P21/F17"
"00411042"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P22/F18"
"00411043"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P23/F1"
"00411044"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P24/F19"
"00411045"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P25/F20"
"00411046"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P26/F21"
"00411047"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P27/F22"
"00411048"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P28/F23"
"00411049"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P29/F24"
"00411050"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P30/F25"
"00411051"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P31/F26"
"00411052"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P32/F27"
"00411053"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P33/F17"
"00411054"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"M"	""	""	""	"0"	""	""	""	"P34/F28"
"00411055"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P35/F29"
"00411056"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P36/F30"
"00411057"	""	""	""	"1"	""	"00000"	"{PMID:Garafalo 2018:29971438}"	""	"F"	""	""	""	"0"	""	""	""	"P37/F30"
"00411058"	""	""	""	"1"	""	"00000"	"{PMID:Minnella 2018:30285900}"	""	"F"	""	""	""	"0"	""	""	"Caucasian"	"?"
"00411059"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"F"	""	"(Italy)"	""	"0"	""	""	""	"P1"
"00411060"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"F"	""	"(Italy)"	""	"0"	""	""	""	"P2"
"00411061"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"M"	""	"(Italy)"	""	"0"	""	""	""	"P3"
"00411062"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"F"	""	"(Italy)"	""	"0"	""	""	""	"P4"
"00411063"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"M"	""	"(Italy)"	""	"0"	""	""	""	"P5"
"00411064"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"M"	""	"(Italy)"	""	"0"	""	""	""	"P6"
"00411065"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"F"	""	"(Italy)"	""	"0"	""	""	""	"P7"
"00411066"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"M"	""	"(Italy)"	""	"0"	""	""	""	"P8"
"00411067"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"F"	""	"(Italy)"	""	"0"	""	""	""	"P9"
"00411068"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"M"	""	"(Italy)"	""	"0"	""	""	""	"P10"
"00411069"	""	""	""	"1"	""	"00000"	"{PMID:Murro 2018:30324420}"	""	"M"	""	"(Italy)"	""	"0"	""	""	""	"P11"
"00411070"	""	""	""	"1"	""	"00000"	"{PMID:Cehajic-Kapetanovic 2018:30466340}"	""	"M"	"yes"	"Greece"	""	"0"	""	""	"Greek"	""
"00429607"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429629"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429678"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429701"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429858"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430079"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00446926"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-18"
"00446932"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-367"
"00446974"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-385-1"
"00446975"	""	""	"00446974"	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"relative"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-385-2"
"00447214"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"MISC-320"
"00447287"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1162"
"00447291"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1181"
"00447296"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1197"
"00447503"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-428"
"00447686"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"MISC-310"
"00447714"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1237"
"00461088"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"F"	""	"South Africa"	""	"0"	""	""	"white"	"Pat23"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 424
"{{individualid}}"	"{{diseaseid}}"
"00032723"	"00387"
"00032724"	"00387"
"00032725"	"00387"
"00032726"	"00387"
"00032727"	"00387"
"00032728"	"00387"
"00032729"	"00387"
"00032730"	"00387"
"00032731"	"00058"
"00032732"	"00058"
"00032733"	"00387"
"00032734"	"00387"
"00032735"	"00387"
"00032736"	"00387"
"00032737"	"00387"
"00032738"	"00387"
"00032739"	"00387"
"00032740"	"00387"
"00032741"	"00387"
"00032742"	"00387"
"00032743"	"00387"
"00032744"	"00387"
"00032745"	"00387"
"00032746"	"00387"
"00032747"	"00387"
"00032748"	"00387"
"00032749"	"00387"
"00032750"	"00058"
"00032751"	"04209"
"00032752"	"04209"
"00032753"	"04209"
"00032754"	"04209"
"00032755"	"00387"
"00032756"	"00387"
"00032757"	"00387"
"00032758"	"00387"
"00032759"	"00387"
"00032760"	"00387"
"00032761"	"00387"
"00032762"	"00387"
"00032763"	"00387"
"00032764"	"00387"
"00032765"	"00058"
"00032766"	"00387"
"00032767"	"00387"
"00032768"	"00058"
"00032769"	"00387"
"00032770"	"00387"
"00032771"	"00387"
"00032772"	"00058"
"00032773"	"00387"
"00032774"	"00387"
"00032775"	"04209"
"00032776"	"04209"
"00032777"	"04209"
"00032778"	"04209"
"00032779"	"00387"
"00032780"	"00387"
"00032781"	"00387"
"00032782"	"00387"
"00032783"	"00387"
"00032784"	"00387"
"00032785"	"00387"
"00032786"	"00387"
"00032787"	"00387"
"00032788"	"00387"
"00032789"	"00387"
"00032790"	"00000"
"00032791"	"00198"
"00032792"	"00000"
"00032793"	"00000"
"00032794"	"00000"
"00032795"	"00000"
"00032796"	"00000"
"00032797"	"00000"
"00032798"	"00000"
"00032799"	"00000"
"00032800"	"00000"
"00032801"	"00000"
"00032802"	"00000"
"00032803"	"00000"
"00032804"	"00000"
"00032805"	"00000"
"00032806"	"00000"
"00032807"	"00000"
"00032808"	"00000"
"00032809"	"00000"
"00032810"	"00000"
"00032811"	"00000"
"00032812"	"00000"
"00032813"	"00000"
"00032814"	"00000"
"00032815"	"00000"
"00032816"	"00000"
"00032832"	"00000"
"00032833"	"00000"
"00032834"	"04209"
"00032835"	"00387"
"00032836"	"04209"
"00032837"	"00000"
"00032838"	"00000"
"00032839"	"00387"
"00032840"	"04209"
"00032841"	"00000"
"00032842"	"00000"
"00032843"	"00000"
"00032844"	"04209"
"00032845"	"00000"
"00032846"	"00000"
"00032847"	"00000"
"00032848"	"00000"
"00032849"	"00000"
"00032850"	"00000"
"00032851"	"00000"
"00032852"	"00000"
"00033152"	"04214"
"00033346"	"04209"
"00033617"	"00387"
"00033618"	"00387"
"00033619"	"00387"
"00033620"	"00387"
"00033621"	"00387"
"00033622"	"00387"
"00033623"	"04214"
"00033624"	"00387"
"00033625"	"00387"
"00033626"	"00387"
"00033627"	"00387"
"00033628"	"00387"
"00033629"	"04209"
"00033630"	"04209"
"00033631"	"04209"
"00033632"	"04209"
"00033633"	"04209"
"00033634"	"04209"
"00033635"	"04209"
"00033636"	"00387"
"00050580"	"00198"
"00100089"	"04214"
"00155507"	"00387"
"00155508"	"04214"
"00155509"	"04214"
"00155510"	"04214"
"00155511"	"00387"
"00155512"	"04214"
"00155513"	"04214"
"00209005"	"00381"
"00233275"	"04214"
"00233276"	"04214"
"00233277"	"04214"
"00233278"	"04214"
"00233279"	"04214"
"00233280"	"04214"
"00233281"	"04214"
"00233282"	"04214"
"00233283"	"04214"
"00233284"	"04214"
"00233285"	"04214"
"00233286"	"04214"
"00233287"	"04214"
"00233288"	"04214"
"00233289"	"04214"
"00233290"	"04214"
"00233291"	"04214"
"00233781"	"04214"
"00233782"	"04214"
"00233783"	"04214"
"00291290"	"00198"
"00295703"	"00198"
"00300599"	"04214"
"00300600"	"04214"
"00307694"	"00198"
"00308746"	"00000"
"00309246"	"04214"
"00309247"	"04214"
"00309248"	"04214"
"00309249"	"04214"
"00309250"	"04214"
"00309252"	"04214"
"00309253"	"04214"
"00309254"	"04214"
"00309255"	"04214"
"00309256"	"04214"
"00309257"	"04214"
"00309668"	"04214"
"00325417"	"04214"
"00325500"	"04214"
"00327936"	"04214"
"00328249"	"04214"
"00328339"	"04214"
"00331281"	"04214"
"00332201"	"04214"
"00332202"	"04214"
"00332203"	"04214"
"00332535"	"04214"
"00333360"	"04214"
"00333850"	"04214"
"00333910"	"04214"
"00333994"	"04214"
"00333995"	"04214"
"00333996"	"04214"
"00334464"	"04214"
"00334557"	"04214"
"00335128"	"00198"
"00335129"	"00198"
"00335339"	"04214"
"00335585"	"04214"
"00335586"	"04214"
"00358718"	"04214"
"00359115"	"04214"
"00359364"	"04214"
"00362887"	"04214"
"00363241"	"05415"
"00363460"	"04214"
"00363597"	"04214"
"00363600"	"04214"
"00363604"	"04214"
"00363607"	"04214"
"00363625"	"04214"
"00363713"	"04214"
"00363871"	"04214"
"00363872"	"04214"
"00372642"	"04214"
"00372643"	"04214"
"00373378"	"04214"
"00373815"	"04214"
"00374938"	"04214"
"00375336"	"04214"
"00375420"	"04214"
"00376752"	"04214"
"00376755"	"04214"
"00376767"	"04214"
"00376778"	"04214"
"00377207"	"04214"
"00377258"	"04214"
"00377382"	"04214"
"00377383"	"04214"
"00377384"	"04214"
"00377385"	"04214"
"00377386"	"04214"
"00377387"	"04214"
"00377388"	"04214"
"00377923"	"04214"
"00377924"	"04214"
"00377925"	"04214"
"00377926"	"04214"
"00377927"	"04214"
"00377944"	"04214"
"00379382"	"04214"
"00379383"	"04214"
"00379384"	"04214"
"00379578"	"04214"
"00379579"	"04214"
"00379614"	"04214"
"00379615"	"04214"
"00380125"	"04214"
"00380128"	"04214"
"00380142"	"04214"
"00380185"	"04214"
"00380307"	"04214"
"00380308"	"04214"
"00380378"	"04214"
"00381049"	"04214"
"00381233"	"04214"
"00381678"	"04214"
"00381778"	"04214"
"00381875"	"04214"
"00381876"	"04214"
"00381877"	"04214"
"00381914"	"04214"
"00382328"	"04214"
"00382329"	"04214"
"00382330"	"04214"
"00382331"	"04214"
"00382332"	"04214"
"00382850"	"04214"
"00382856"	"04214"
"00383448"	"04214"
"00383449"	"04214"
"00383774"	"04214"
"00384014"	"04214"
"00384048"	"04214"
"00384091"	"04214"
"00384094"	"04214"
"00384100"	"04214"
"00384107"	"04214"
"00384109"	"04214"
"00384117"	"04214"
"00384137"	"04214"
"00384148"	"04214"
"00384160"	"04214"
"00384174"	"04214"
"00384767"	"04214"
"00386546"	"04214"
"00386585"	"04214"
"00386600"	"04214"
"00386632"	"04214"
"00386665"	"04214"
"00386738"	"04214"
"00386771"	"04214"
"00386777"	"04214"
"00386894"	"04214"
"00386896"	"04214"
"00386898"	"04214"
"00387516"	"04214"
"00387669"	"04214"
"00388192"	"04214"
"00388193"	"04214"
"00388194"	"04214"
"00388717"	"04214"
"00388718"	"04214"
"00388750"	"04214"
"00388751"	"04214"
"00388752"	"04214"
"00388753"	"04214"
"00388754"	"04214"
"00388755"	"04214"
"00389051"	"04214"
"00389052"	"04214"
"00389081"	"04214"
"00389252"	"04214"
"00389414"	"04214"
"00389415"	"04214"
"00389471"	"04214"
"00389472"	"04214"
"00389560"	"04214"
"00389608"	"04214"
"00389647"	"04214"
"00389652"	"04214"
"00389856"	"04214"
"00389893"	"04214"
"00389900"	"04214"
"00389956"	"04214"
"00390322"	"04214"
"00390323"	"04214"
"00390324"	"04214"
"00390325"	"04214"
"00390773"	"04214"
"00391364"	"04214"
"00391756"	"04214"
"00394481"	"04214"
"00394482"	"04214"
"00396480"	"04214"
"00399788"	"04214"
"00408062"	"04214"
"00411010"	"04214"
"00411011"	"04214"
"00411012"	"04214"
"00411013"	"04214"
"00411014"	"04214"
"00411015"	"04214"
"00411016"	"04214"
"00411017"	"04214"
"00411018"	"04214"
"00411019"	"04214"
"00411020"	"04214"
"00411021"	"04214"
"00411022"	"04214"
"00411023"	"04214"
"00411024"	"04214"
"00411025"	"04214"
"00411026"	"04214"
"00411027"	"04214"
"00411028"	"04214"
"00411029"	"04214"
"00411030"	"04214"
"00411031"	"04214"
"00411032"	"04214"
"00411033"	"04214"
"00411034"	"04214"
"00411035"	"04214"
"00411036"	"04214"
"00411037"	"04214"
"00411038"	"04214"
"00411039"	"04214"
"00411040"	"04214"
"00411041"	"04214"
"00411042"	"04214"
"00411043"	"04214"
"00411044"	"04214"
"00411045"	"04214"
"00411046"	"04214"
"00411047"	"04214"
"00411048"	"04214"
"00411049"	"04214"
"00411050"	"04214"
"00411051"	"04214"
"00411052"	"04214"
"00411053"	"04214"
"00411054"	"04214"
"00411055"	"04214"
"00411056"	"04214"
"00411057"	"04214"
"00411058"	"04214"
"00411059"	"04214"
"00411060"	"04214"
"00411061"	"04214"
"00411062"	"04214"
"00411063"	"04214"
"00411064"	"04214"
"00411065"	"04214"
"00411066"	"04214"
"00411067"	"04214"
"00411068"	"04214"
"00411069"	"04214"
"00411070"	"04214"
"00429607"	"00112"
"00429629"	"04214"
"00429678"	"00112"
"00429701"	"00112"
"00429858"	"04214"
"00430079"	"00112"
"00446926"	"00198"
"00446932"	"00198"
"00446974"	"00198"
"00446975"	"00198"
"00447214"	"00198"
"00447287"	"00198"
"00447291"	"00198"
"00447296"	"00198"
"00447503"	"00198"
"00447686"	"00198"
"00447714"	"00198"
"00461088"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 00381, 00386, 00387, 04209, 04214, 05415
## Count = 402
"{{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}}"
"0000026152"	"00387"	"00032723"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026153"	"00387"	"00032724"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026154"	"00387"	"00032725"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026155"	"00387"	"00032726"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026156"	"00387"	"00032727"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026157"	"00387"	"00032728"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026158"	"00387"	"00032729"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026159"	"00387"	"00032730"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026160"	"00058"	"00032731"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026161"	"00058"	"00032732"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026162"	"00387"	"00032733"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026163"	"00387"	"00032734"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026164"	"00387"	"00032735"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026165"	"00387"	"00032736"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026166"	"00387"	"00032737"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026167"	"00387"	"00032738"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026168"	"00387"	"00032739"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026169"	"00387"	"00032740"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026170"	"00387"	"00032741"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026171"	"00387"	"00032742"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026172"	"00387"	"00032743"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026173"	"00387"	"00032744"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026174"	"00387"	"00032745"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026175"	"00387"	"00032746"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026176"	"00387"	"00032747"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026177"	"00387"	"00032748"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026178"	"00387"	"00032749"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026179"	"00058"	"00032750"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026180"	"04209"	"00032751"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026181"	"04209"	"00032752"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026182"	"04209"	"00032753"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026183"	"04209"	"00032754"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026184"	"00387"	"00032755"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026185"	"00387"	"00032756"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026186"	"00387"	"00032757"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026187"	"00387"	"00032758"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026188"	"00387"	"00032759"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026189"	"00387"	"00032760"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026190"	"00387"	"00032761"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026191"	"00387"	"00032762"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026192"	"00387"	"00032763"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026193"	"00387"	"00032764"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026194"	"00058"	"00032765"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026195"	"00387"	"00032766"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026196"	"00387"	"00032767"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026197"	"00058"	"00032768"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026198"	"00387"	"00032769"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026199"	"00387"	"00032770"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026200"	"00387"	"00032771"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026201"	"00058"	"00032772"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026202"	"00387"	"00032773"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026203"	"00387"	"00032774"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026204"	"04209"	"00032775"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026205"	"04209"	"00032776"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026206"	"04209"	"00032777"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026207"	"04209"	"00032778"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026208"	"00387"	"00032779"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026209"	"00387"	"00032780"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026210"	"00387"	"00032781"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026211"	"00387"	"00032782"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026212"	"00387"	"00032783"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026213"	"00387"	"00032784"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026214"	"00387"	"00032785"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026215"	"00387"	"00032786"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026216"	"00387"	"00032787"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026217"	"00387"	"00032788"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000026218"	"00387"	"00032789"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026219"	"00000"	"00032790"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026220"	"00198"	"00032791"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026221"	"00000"	"00032792"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026222"	"00000"	"00032793"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026223"	"00000"	"00032794"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026224"	"00000"	"00032795"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026225"	"00000"	"00032796"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026226"	"00000"	"00032797"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026227"	"00000"	"00032798"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026228"	"00000"	"00032799"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026229"	"00000"	"00032800"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026230"	"00000"	"00032801"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026231"	"00000"	"00032802"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026232"	"00000"	"00032803"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026233"	"00000"	"00032804"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026234"	"00000"	"00032805"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026235"	"00000"	"00032806"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026236"	"00000"	"00032807"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026237"	"00000"	"00032808"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026238"	"00000"	"00032809"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026239"	"00000"	"00032810"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026240"	"00000"	"00032811"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026241"	"00000"	"00032812"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026242"	"00000"	"00032813"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026243"	"00000"	"00032814"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026244"	"00000"	"00032815"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026245"	"00000"	"00032816"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026261"	"00000"	"00032832"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026262"	"00000"	"00032833"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026263"	"04209"	"00032834"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026264"	"00387"	"00032835"	"00223"	"Unknown"	""	"helicoid subretinal fibrosis"	""	""	""	""	""	""	""	""	""	""	""
"0000026265"	"04209"	"00032836"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026266"	"00000"	"00032837"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026267"	"00000"	"00032838"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026268"	"00387"	"00032839"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026269"	"04209"	"00032840"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026270"	"00000"	"00032841"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026271"	"00000"	"00032842"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026272"	"00000"	"00032843"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026273"	"04209"	"00032844"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026274"	"00000"	"00032845"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026275"	"00000"	"00032846"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026276"	"00000"	"00032847"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026277"	"00000"	"00032848"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026278"	"00000"	"00032849"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026279"	"00000"	"00032850"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026280"	"00000"	"00032851"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026281"	"00000"	"00032852"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026581"	"04214"	"00033152"	"00229"	"Unknown"	"45y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026775"	"04209"	"00033346"	"00039"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027046"	"00387"	"00033617"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027047"	"00387"	"00033618"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027048"	"00387"	"00033619"	"00223"	"Unknown"	""	"Goldmann-Favre syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000027049"	"00387"	"00033620"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027050"	"00387"	"00033621"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027051"	"00387"	"00033622"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027053"	"00387"	"00033624"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027054"	"00387"	"00033625"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027055"	"00387"	"00033626"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027056"	"00387"	"00033627"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027057"	"00387"	"00033628"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027058"	"04209"	"00033629"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027059"	"04209"	"00033630"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027060"	"04209"	"00033631"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027061"	"04209"	"00033632"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027062"	"04209"	"00033633"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027063"	"04209"	"00033634"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027064"	"04209"	"00033635"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027065"	"00387"	"00033636"	"00223"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037192"	"00198"	"00050580"	"00006"	"Unknown"	""	"patent ductus arteriosus, feeding difficulties in infancy, plagiocephaly, asymmetry of the ears, single transverse palmar crease, gingival overgrowth, skin dimples"	""	""	""	""	""	""	""	""	""	""	""
"0000078328"	"04214"	"00100089"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128007"	"00387"	"00155507"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome"	""
"0000128008"	"04214"	"00155508"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128009"	"04214"	"00155509"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128010"	"04214"	"00155510"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128011"	"00387"	"00155511"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome"	""
"0000128012"	"04214"	"00155512"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128013"	"04214"	"00155513"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000157610"	"00381"	"00209005"	"00006"	"Familial, autosomal recessive"	""	"Retinal dystrophy"	""	""	""	""	""	""	""	""	"ESCS"	"retinal dystrophy"	""
"0000223253"	"00198"	"00295703"	"01807"	"Unknown"	""	"Retinoschisis (HP:0030502)"	""	""	""	""	""	""	""	""	""	""	""
"0000227910"	"04214"	"00300599"	"01848"	"Familial, autosomal recessive"	"22y"	"RP, nystagmus , pericentral field loss"	"8m"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000227911"	"04214"	"00300600"	"01848"	"Familial, autosomal recessive"	"27y"	"RP, incidental diagnosis, pericentral field loss"	"3y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000233254"	"00198"	"00307694"	"01164"	"Unknown"	""	"Macular edema (HP:0040049); Retinopathy (HP:0000488)"	""	""	""	""	""	""	""	""	""	""	""
"0000234566"	"04214"	"00309246"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"ESCS"	""
"0000234567"	"04214"	"00309247"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234568"	"04214"	"00309248"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234569"	"04214"	"00309249"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234570"	"04214"	"00309250"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234572"	"04214"	"00309252"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"ESCS"	""
"0000234573"	"04214"	"00309253"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"GFS"	""
"0000234574"	"04214"	"00309254"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234575"	"04214"	"00309255"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234576"	"04214"	"00309256"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234577"	"04214"	"00309257"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinoschisis"	""
"0000234987"	"04214"	"00309668"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235129"	"04214"	"00033623"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000243904"	"04214"	"00325417"	"00006"	"Familial, autosomal dominant"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243987"	"04214"	"00325500"	"00006"	"Familial, autosomal dominant"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246163"	"04214"	"00327936"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246476"	"04214"	"00328249"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246566"	"04214"	"00328339"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000249475"	"04214"	"00331281"	"00000"	"Familial, autosomal dominant"	"62y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250388"	"04214"	"00332201"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250389"	"04214"	"00332202"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"nanophthalmos, maculopathy"	""
"0000250390"	"04214"	"00332203"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250723"	"04214"	"00332535"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"pericentral retinitis pigmentosa"	""
"0000251547"	"04214"	"00333360"	"00000"	"Familial, autosomal dominant"	"54y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252035"	"04214"	"00333850"	"00000"	"Familial, autosomal recessive"	"79y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252095"	"04214"	"00333910"	"00000"	"Familial, autosomal recessive"	"31y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252179"	"04214"	"00333994"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA2fiv"	""	""	""	""	""	""	""	""	""	"enhanced S cone syndrome"	""
"0000252180"	"04214"	"00333995"	"00000"	"Familial, autosomal recessive"	"3y"	"clinical category IA2fiv"	""	""	""	""	""	""	""	""	""	"enhanced S cone syndrome"	""
"0000252181"	"04214"	"00333996"	"00000"	"Familial, autosomal recessive"	"37y"	"clinical category IA2fiv"	""	""	""	""	""	""	""	""	""	"enhanced S cone syndrome"	""
"0000252553"	"04214"	"00334464"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252597"	"04214"	"00334557"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252843"	"00198"	"00335128"	"00000"	"Unknown"	""	"0y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252844"	"00198"	"00335129"	"00000"	"Unknown"	""	"18y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000253053"	"04214"	"00335339"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253530"	"04214"	"00335585"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253531"	"04214"	"00335586"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253933"	"04214"	"00358718"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Goldmann-Favre syndrome"	""
"0000254412"	"04214"	"00359115"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254635"	"04214"	"00359364"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000258253"	"04214"	"00362887"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258606"	"05415"	"00363241"	"00000"	"Familial, autosomal recessive"	"6y"	"deafness, blindness, deep pigment deposits along the vascular arcades, subretinal fibrosis; ERG delayed, depressed, simplified scotopic flash response"	""	""	""	""	""	""	""	""	""	"Usher syndrome, atypical"	""
"0000258821"	"04214"	"00363460"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258947"	"04214"	"00363597"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Goldmann Favre disease"	""
"0000258950"	"04214"	"00363600"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Goldmann Favre disease"	""
"0000258954"	"04214"	"00363604"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Goldmann Favre disease"	""
"0000258957"	"04214"	"00363607"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Goldmann Favre disease"	""
"0000258975"	"04214"	"00363625"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Goldmann Favre disease"	""
"0000259063"	"04214"	"00363713"	"00000"	"Familial"	""	"syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, hypogammaglobulinemia."	""
"0000259210"	"04214"	"00363871"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259211"	"04214"	"00363872"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267921"	"04214"	"00372642"	"00000"	"Familial, autosomal dominant"	"41y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267922"	"04214"	"00372643"	"00000"	"Familial, autosomal dominant"	"18y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268654"	"04214"	"00373378"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269024"	"04214"	"00373815"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270148"	"04214"	"00374938"	"00000"	"Isolated (sporadic)"	"9y"	"best corrected visual acuity 0.4/0.8"	"5y"	""	""	""	""	""	""	""	""	"enhanced S cone syndrome"	""
"0000270550"	"04214"	"00375336"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270634"	"04214"	"00375420"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271963"	"04214"	"00376752"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, loss of peripheral vision"	""
"0000271966"	"04214"	"00376755"	"00000"	"Familial, autosomal recessive"	"24y"	""	""	""	""	""	""	""	""	""	""	"Decreased peripheral vision, night blindness"	""
"0000271978"	"04214"	"00376767"	"00000"	"Familial, autosomal recessive"	"36y"	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000271989"	"04214"	"00376778"	"00000"	"Familial, autosomal dominant"	"22y"	""	""	""	""	""	""	""	""	""	""	"Nyctalopia, loss of peripheral vision, progressive pigmentary retinopathy"	""
"0000272365"	"04214"	"00377207"	"00000"	"Familial, autosomal recessive"	"12y"	"see paper"	"2m"	"7y"	""	""	""	""	""	""	"retinitis pigmentosa, type 37 (RP37)"	"retinal disease"	""
"0000272416"	"04214"	"00377258"	"00000"	"Familial, autosomal recessive"	"54y"	"see paper"	"30y"	"50y"	""	""	""	""	""	""	"retinitis pigmentosa, type 37 (RP37)"	"retinal disease"	""
"0000272532"	"04214"	"00377382"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000272533"	"04214"	"00377383"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000272534"	"04214"	"00377384"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000272535"	"04214"	"00377385"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000272536"	"04214"	"00377386"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000272537"	"04214"	"00377387"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000272538"	"04214"	"00377388"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP37"	"retinitis pigmentosa"	""
"0000273069"	"04214"	"00377923"	"00000"	"Familial, autosomal recessive"	"44y"	""	"14y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273070"	"04214"	"00377924"	"00000"	"Familial, autosomal recessive"	"41y"	""	"13y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273071"	"04214"	"00377925"	"00000"	"Familial, autosomal recessive"	"49y"	""	"15y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273072"	"04214"	"00377926"	"00000"	"Familial, autosomal recessive"	"35y"	""	"15y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273073"	"04214"	"00377927"	"00000"	"Familial, autosomal recessive"	"64y"	""	"13y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273090"	"04214"	"00377944"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273255"	"04214"	"00379382"	"00000"	"Unknown"	"16y"	""	"12y"	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000273256"	"04214"	"00379383"	"00000"	"Unknown"	"61y"	""	"7y"	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)/clumped pigmentary retinal degeneration (CPRD)"	""
"0000273257"	"04214"	"00379384"	"00000"	"Unknown"	"25y"	""	"19y"	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000273432"	"04214"	"00379578"	"00008"	"Familial, autosomal recessive"	"10y"	"Decreased night vision; White flecks mid-periphery; healed glioticscars at posterior pole"	"4y"	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""
"0000273433"	"04214"	"00379579"	"00008"	"Familial, autosomal recessive"	"7y"	""	"4y"	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""
"0000273468"	"04214"	"00379614"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant retinitis pigmentosa (adRP)"	""
"0000273469"	"04214"	"00379615"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant retinitis pigmentosa (adRP)"	""
"0000273980"	"04214"	"00380125"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)"	""
"0000273983"	"04214"	"00380128"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)"	""
"0000273997"	"04214"	"00380142"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274040"	"04214"	"00380185"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000274158"	"04214"	"00380307"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy (CD)"	""
"0000274159"	"04214"	"00380308"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy (CD)"	""
"0000274229"	"04214"	"00380378"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000274900"	"04214"	"00381049"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275084"	"04214"	"00381233"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275520"	"04214"	"00381678"	"00000"	"Familial, autosomal recessive"	""	""	"58y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275620"	"04214"	"00381778"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275717"	"04214"	"00381875"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275718"	"04214"	"00381876"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275719"	"04214"	"00381877"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275756"	"04214"	"00381914"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276177"	"04214"	"00382328"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276178"	"04214"	"00382329"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276179"	"04214"	"00382330"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276180"	"04214"	"00382331"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276181"	"04214"	"00382332"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276706"	"04214"	"00382850"	"00000"	"Familial, autosomal recessive"	"7y"	""	""	""	""	""	""	""	""	""	""	"early-onset retinitis pigmentosa (EORD)"	""
"0000276712"	"04214"	"00382856"	"00000"	"Familial, autosomal recessive"	"21y"	""	""	""	""	""	""	""	""	""	""	"Goldmann-Favre syndrome (GFS)"	""
"0000277233"	"04214"	"00383448"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Enhanced S-cone"	""
"0000277234"	"04214"	"00383449"	"00000"	"Familial, autosomal recessive"	""	""	"9y"	""	""	""	""	""	""	""	""	"Enhanced S-cone"	""
"0000277559"	"04214"	"00383774"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277799"	"04214"	"00384014"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277833"	"04214"	"00384048"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277876"	"04214"	"00384091"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277879"	"04214"	"00384094"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277885"	"04214"	"00384100"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277892"	"04214"	"00384107"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Goldmann Favre syndrome"	""
"0000277894"	"04214"	"00384109"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277902"	"04214"	"00384117"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277922"	"04214"	"00384137"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277933"	"04214"	"00384148"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277945"	"04214"	"00384160"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277959"	"04214"	"00384174"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278550"	"04214"	"00384767"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000280346"	"04214"	"00386546"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280385"	"04214"	"00386585"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280400"	"04214"	"00386600"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280432"	"04214"	"00386632"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280465"	"04214"	"00386665"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280538"	"04214"	"00386738"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280571"	"04214"	"00386771"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280577"	"04214"	"00386777"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280694"	"04214"	"00386894"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280696"	"04214"	"00386896"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280698"	"04214"	"00386898"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000281079"	"04214"	"00387516"	"00000"	"Familial, autosomal dominant"	""	""	"54y"	""	""	""	""	""	""	""	""	"Pericentral Retinal Degeneration (PRD)"	""
"0000281232"	"04214"	"00387669"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Retinopathy associated with nr2e3 gene"	"Childhood retinal disease"	""
"0000281785"	"04214"	"00388192"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000281786"	"04214"	"00388193"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000281787"	"04214"	"00388194"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000282258"	"04214"	"00388717"	"00000"	"Familial, autosomal dominant"	"83y"	"age at genetic diagnosis mentioned"	""	"75y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282259"	"04214"	"00388718"	"00000"	"Familial, autosomal dominant"	"53y"	"age at genetic diagnosis mentioned"	""	"46y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282291"	"04214"	"00388750"	"00000"	"Familial, autosomal dominant"	"57y"	"age at genetic diagnosis mentioned"	""	"52y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282292"	"04214"	"00388751"	"00000"	"Familial, autosomal dominant"	"87y"	"age at genetic diagnosis mentioned"	""	"82y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282293"	"04214"	"00388752"	"00000"	"Familial, autosomal dominant"	"117y"	"age at genetic diagnosis mentioned"	""	"108y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282294"	"04214"	"00388753"	"00000"	"Familial, autosomal dominant"	"62y"	"age at genetic diagnosis mentioned"	""	"57y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282295"	"04214"	"00388754"	"00000"	"Familial, autosomal dominant"	"84y"	"age at genetic diagnosis mentioned"	""	"79y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282296"	"04214"	"00388755"	"00000"	"Familial, autosomal dominant"	"59y"	"age at genetic diagnosis mentioned"	""	"54y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282592"	"04214"	"00389051"	"00000"	"Familial, autosomal recessive"	"66y"	"age at genetic diagnosis mentioned"	""	"61y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282593"	"04214"	"00389052"	"00000"	"Familial, autosomal recessive"	"57y"	"age at genetic diagnosis mentioned"	""	"53y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282622"	"04214"	"00389081"	"00000"	"Familial, autosomal dominant"	"81y"	"age at genetic diagnosis mentioned"	""	"74y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282793"	"04214"	"00389252"	"00000"	"Isolated (sporadic)"	"41y"	"age at genetic diagnosis mentioned"	""	"34y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000282955"	"04214"	"00389414"	"00000"	"Familial, autosomal recessive"	"12y"	"age at genetic diagnosis mentioned"	""	"7y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282956"	"04214"	"00389415"	"00000"	"Familial, autosomal recessive"	"8y"	"age at genetic diagnosis mentioned"	""	"3y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283012"	"04214"	"00389471"	"00000"	"Familial, autosomal recessive"	"68y"	"age at genetic diagnosis mentioned"	""	"65y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283013"	"04214"	"00389472"	"00000"	"Familial, autosomal recessive"	"73y"	"age at genetic diagnosis mentioned"	""	"69y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283101"	"04214"	"00389560"	"00000"	"Familial, autosomal dominant"	"63y"	"age at genetic diagnosis mentioned"	""	"57y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283149"	"04214"	"00389608"	"00000"	"Isolated (sporadic)"	"29y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283188"	"04214"	"00389647"	"00000"	"Familial, autosomal recessive"	"80y"	"age at genetic diagnosis mentioned"	""	"79y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283193"	"04214"	"00389652"	"00000"	"Isolated (sporadic)"	"58y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283397"	"04214"	"00389856"	"00000"	"Isolated (sporadic)"	"38y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283434"	"04214"	"00389893"	"00000"	"Isolated (sporadic)"	"25y"	"age at genetic diagnosis mentioned"	""	"20y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283441"	"04214"	"00389900"	"00000"	"Isolated (sporadic)"	"47y"	"age at genetic diagnosis mentioned"	""	"43y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283497"	"04214"	"00389956"	"00000"	"Isolated (sporadic)"	"26y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283860"	"04214"	"00390322"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283861"	"04214"	"00390323"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283862"	"04214"	"00390324"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000283863"	"04214"	"00390325"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284261"	"04214"	"00390773"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000284804"	"04214"	"00391364"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Enhanced S-cone syndrome (268100)"	"Enhanced S-cone syndrome (268100)"	""
"0000285079"	"04214"	"00391756"	"00000"	"Familial, autosomal recessive"	"17y"	"Nyctalopia at 3 years, visual acuity right/left eye: 20/25: 20/25, Contrast Sensitivity: 1.50: 1.50, Color vision: Moderate RG defect, Refractive error +0.75+0.50 × 10:, +1.50, Retinal exam: white dots ST arcade, Hypo AF along ST, arcade; Fundus autofluorescence: hyper AF, dots periphery, Optical Coherence Tomography: Normal CRT; ONL, and OPL rosettes, with thick and, disorganized retina, in mid-peripher"	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome"	""	""
"0000287684"	"04214"	"00394481"	"00000"	"Familial, autosomal dominant"	"71y"	""	"25y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287685"	"04214"	"00394482"	"00000"	"Familial, autosomal dominant"	"50y"	""	"12y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289641"	"04214"	"00396480"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (Recessive)"	""	""
"0000292888"	"04214"	"00399788"	"00000"	"Familial, autosomal recessive"	"18y"	"attenuated retinal bloodvessels and diffuse  temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex"	""	""	""	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000300191"	"04214"	"00408062"	"00000"	"Familial, autosomal dominant"	"55y"	"onset: 1st decade; photophobia: 5th decade; nystagmus: no; decline in visual acuity: 5th decade; myopia: no; keratoconus: no; cataract: yes; papillary pallor: severe; peripapillary atrophy: no; white flecks: yes; pigment mottling: no; vessel attenuation: no; bone spicules: rare in the middle periphery; chorioretinal atrophy: mesh look; optical coherence tomography: foveolar thinning; visual field: not possible"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000303100"	"04214"	"00411010"	"00000"	"Unknown"	"3y"	"central/steady/maintained vision in either eye, 18-prism diopters oesotropia at distance and near, and a cycloplegic refraction of +5.75– 1.506180 OD (right eye), +6.0021.506180 OS (left eye). Both eyes had an unhealthy retinal pigment epithelium (RPE) appearance with subfoveal lesions OU"	"2y"	""	"poor night vision"	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303101"	"04214"	"00411011"	"00000"	"Unknown"	"5y"	"20-prism diopters oesotropia at near. Cycloplegic refraction was +7.25 OU. Retinal examination was significant for subretinal white lesions"	"2y"	""	"poor night vision"	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303102"	"04214"	"00411012"	"00000"	"Unknown"	"40y"	"BCVA of perception of light in the right eye (RE) and 6/12 in the left eye (LE). Severe corneal edema, neovascularization of the iris, posterior subcapsular cataract, and intraocular pressure (IOP) of 50 mmHg suggestive of neovascular glaucoma, and the LE showed a clear cornea and mild lens opacities due to posterior subcapsular cataract. More in paper.."	""	""	""	""	""	""	""	""	""	"Goldmann-Favre syndrome (GFS) and Vasoproliferative tumors of the retina (VPTRs)"	""
"0000303103"	"04214"	"00411013"	"00000"	"Unknown"	"42y"	""	""	""	"defective night vision since childhood"	""	""	""	""	""	""	"Goldmann-Favre syndrome (GFS) and Vasoproliferative tumors of the retina (VPTRs)"	""
"0000303104"	"04214"	"00411014"	"00000"	"Unknown"	"16y"	"longstanding, stable nyctalopia, hypopigmentation along the arcades: VA: OD 20/20-1; OS 20/15-3"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303105"	"04214"	"00411015"	"00000"	"Unknown"	"18y"	"longstanding, stable nyctalopia, hypopigmentation along the arcades: VA: OD 20/200-1; OS 20/60-2"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303106"	"04214"	"00411016"	"00000"	"Unknown"	"20y"	"longstanding, stable nyctalopia, hypopigmentation along the arcades: VA: OD 20/25-1; OS 20/70-1"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303107"	"04214"	"00411017"	"00000"	"Unknown"	"23y"	"longstanding, stable nyctalopia, hypopigmentation along the arcades, constriction of the Goldmann visual field to the V4e target: VA: OD 20/40; OS 20/25"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303108"	"04214"	"00411018"	"00000"	"Unknown"	"36y"	"retinal degeneration, vitreous opacities in both eyes, extensive leakage of the dye in both eyes, posterior subcapsular cataracts in both eyes; BCVA: 1.0 OD / 0.5 OS after removal of cataracts"	""	""	"night blindness"	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303109"	"04214"	"00411019"	"00000"	"Unknown"	"39y"	"BCVA: 1.5 each eye, uveitis in the left eye"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303110"	"04214"	"00411020"	"00000"	"Unknown"	"9y"	""	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303111"	"04214"	"00411021"	"00000"	"Unknown"	"20y"	"BCVA: RE 20/20 / LE 20/200"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303112"	"04214"	"00411022"	"00000"	"Unknown"	"20y"	"BCVA: RE 20/63 / LE 20/63"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303113"	"04214"	"00411023"	"00000"	"Unknown"	"12y"	"BCVA: RE 20/25 / LE 20/20"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303114"	"04214"	"00411024"	"00000"	"Unknown"	"17y"	"BCVA: RE 20/50 / LE 20/32"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303115"	"04214"	"00411025"	"00000"	"Unknown"	"13y"	"BCVA: RE 20/20 / LE 20/20"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303116"	"04214"	"00411026"	"00000"	"Unknown"	"13y"	"BCVA: RE 20/70 / LE 20/40"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303117"	"04214"	"00411027"	"00000"	"Unknown"	"26y"	"BCVA: RE 20/400 / LE HM§"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303118"	"04214"	"00411028"	"00000"	"Unknown"	"23y"	"BCVA: RE 20/80 / LE 20/100"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303119"	"04214"	"00411029"	"00000"	"Unknown"	"20y"	"BCVA: RE 20/63 / LE 20/200"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303120"	"04214"	"00411030"	"00000"	"Unknown"	"27y"	"BCVA: RE 20/100 / LE 20/160"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303121"	"04214"	"00411031"	"00000"	"Unknown"	"16y"	"BCVA: RE 20/100 / LE 20/63"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303122"	"04214"	"00411032"	"00000"	"Unknown"	"31y"	"BCVA: RE 20/20 / LE 20/20"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303123"	"04214"	"00411033"	"00000"	"Unknown"	"26y"	"BCVA: RE 20/25 / LE 20/25"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303124"	"04214"	"00411034"	"00000"	"Unknown"	"31y"	"BCVA: RE 20/60 / LE n.a."	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303125"	"04214"	"00411035"	"00000"	"Unknown"	"55y"	"BCVA: RE 20/250 / LE 20/400"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303126"	"04214"	"00411036"	"00000"	"Unknown"	"63y"	"BCVA: RE 20/30 / LE 20/50"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303127"	"04214"	"00411037"	"00000"	"Unknown"	"41y"	"BCVA: RE 20/200 / LE 20/200"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303128"	"04214"	"00411038"	"00000"	"Unknown"	"45y"	"BCVA: RE 20/100 / LE 20/80"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303129"	"04214"	"00411039"	"00000"	"Unknown"	"35y"	"BCVA: RE 20/25 / LE 20/25"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303130"	"04214"	"00411040"	"00000"	"Unknown"	"31y"	"BCVA: RE 20/160 / LE 20/125"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303131"	"04214"	"00411041"	"00000"	"Unknown"	"35y"	"BCVA: RE 20/30 / LE 20/25"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303132"	"04214"	"00411042"	"00000"	"Unknown"	"56y"	"BCVA: RE 20/160 / LE 20/200"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303133"	"04214"	"00411043"	"00000"	"Unknown"	"38y"	"BCVA: RE 20/25 / LE 20/50"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303134"	"04214"	"00411044"	"00000"	"Unknown"	"66y"	"BCVA: RE 20/125 / LE LP"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303135"	"04214"	"00411045"	"00000"	"Unknown"	"39y"	"BCVA: RE 20/63 / LE 20/50"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303136"	"04214"	"00411046"	"00000"	"Unknown"	"54y"	"BCVA: RE 20/30 / LE 20/400"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303137"	"04214"	"00411047"	"00000"	"Unknown"	"40y"	"BCVA: RE 20/40 / LE 20/30"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303138"	"04214"	"00411048"	"00000"	"Unknown"	"44y"	"BCVA: RE 20/40 / LE 20/63"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303139"	"04214"	"00411049"	"00000"	"Unknown"	"46y"	"BCVA: RE 20/30 / LE 20/400"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303140"	"04214"	"00411050"	"00000"	"Unknown"	"46y"	"BCVA: RE 20/600 / LE CF"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303141"	"04214"	"00411051"	"00000"	"Unknown"	"48y"	"BCVA: RE 20/25 / LE 20/40"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303142"	"04214"	"00411052"	"00000"	"Unknown"	"56y"	"BCVA: RE 20/200 / LE 20/200"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303143"	"04214"	"00411053"	"00000"	"Unknown"	"53y"	"BCVA: RE 20/40 / LE 20/50"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303144"	"04214"	"00411054"	"00000"	"Unknown"	"70y"	"BCVA: RE 20/125 / LE 20/160"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303145"	"04214"	"00411055"	"00000"	"Unknown"	"77y"	"BCVA: RE 20/80 / LE 20/200"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303146"	"04214"	"00411056"	"00000"	"Unknown"	"70y"	"BCVA: RE 20/400 / LE 20/800"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303147"	"04214"	"00411057"	"00000"	"Unknown"	"73y"	"BCVA: RE 20/300 / LE 20/80"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	""
"0000303148"	"04214"	"00411058"	"00000"	"Familial, autosomal recessive"	"13y"	""	""	""	""	""	""	""	""	""	"enhanced S-cone syndrome (ESCS)"	"retinitis pigmentosa (RP)"	""
"0000303149"	"04214"	"00411059"	"00000"	"Familial, autosomal recessive"	"18y"	"VA: 0.2/0.2; Cystoid maculopathy and yellowish/white flecks-like lesions at the mid periphery (yellowish dots), predominantly in the nasal sectors; Hyper-autofluorescent dots along the vascular arcades   ; ERG severely reduced"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303150"	"04214"	"00411060"	"00000"	"Familial, autosomal recessive"	"22y"	"VA: 0/0; Cystoid maculopathy and yellowish/white flecks-like lesions at the mid periphery (yellowish dots), predominantly in the nasal sectors; Hyper-autofluorescent focal areas along the vascular arcades and at the mid-periphery. Along retinal vessel, the hyper-autofluorescent alterations showed a sleeve-like appearance. FAF alterations were located in the appar ently healthy retina; ERG severely reduced"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303151"	"04214"	"00411061"	"00000"	"Familial, autosomal recessive"	"58y"	"VA: 0/0.14; RPE dystrophy along the vascular arcades and at the peripapillary area. Peripheral retina was spared. Retinal vessels and optic disc appeared normal. Perifoveal atrophy. Bull’s eye maculopathy  ; Perifoveal hypo-autofluorescence and speckled hypo-autofluorescence with some hypo-autofluorescent circular areas along the vascular arcades. At the external boundaries of the FAF alterations, an hyper-fluorescent ring was present.; ERG severely reduced"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303152"	"04214"	"00411062"	"00000"	"Familial, autosomal recessive"	"44y"	"VA: 0.2/0.2; RPE dystrophy at the mid-periphery with clumped pigment.Opaque, dendritic appearance of peripheral vessels in both eyes. In the left eye peripheral retinoschisis at inferior sectors. Vitreous opacities in both eyes ; Preserved FAF at the posterior pole in both eyes   ;"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303153"	"04214"	"00411063"	"00000"	"Familial, autosomal recessive"	"68y"	"VA: 0.2/0.15; RPE dystrophy at the mid-periphery with clumped pigment and bone spicules. Parapapillary CNV in the right eye during follow-up; Preserved FAF at the macular area in both eyes   ;"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303154"	"04214"	"00411064"	"00000"	"Familial, autosomal recessive"	"60y"	"VA: 1.3/0.7; RPE atrophy with clumped pigment. Opaque, dendritic appearance of peripheral vessels in both eyes. Macular atrophy (RE > LE) with SDD at the posterior pole in both eyes.Vitreous opacities in both eyes  ; Hypo-autofluorescence along the vascular  arcades and at the mid-periphery (patchy hypo-autofluorescence at the posterior pole of the right eye, preserved FAF with some hypo-autofluorescence irregular areas; ERG severely reduced"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303155"	"04214"	"00411065"	"00000"	"Familial, autosomal recessive"	"11y"	"VA: 0.2/0.3; Mild RPE depigmentation along the vascular arcades with yellowish/white dots in both eyes. Mild RPE depigmen- tation was observed also in the macular area. Optic disc, reti- nal vessels and extreme periphery were normal. Vitreous opacities in both eyes. Cystoid maculopathy; Not available     ;"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303156"	"04214"	"00411066"	"00000"	"Familial, autosomal recessive"	"55y"	"VA: 0.15/0.52; RPE atrophy with clumped pigment and bone spicules at the vascular arcades and in periphery. Wide-spread SDD at the posterior pole with RPE dystrophy in the both eyes    ; Not available     ;"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303157"	"04214"	"00411067"	"00000"	"Familial, autosomal recessive"	"40y"	"VA: 0/0; RPE dystrophy at the mid-periphery with few pigment abnormalities. Vitreous opacities in both eyes, pre-retinal white membranes; Not available     ;"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303158"	"04214"	"00411068"	"00000"	"Familial, autosomal recessive"	"37y"	"VA: 0/0; RPE dystrophy with bone spicules predominantly at the inferior sectors. Bull’s eye maculopahty ; A triple hyper-autofluorescent ring in both eyes.   ; ERG severely reduced"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303159"	"04214"	"00411069"	"00000"	"Familial, autosomal recessive"	"52y"	"VA: /1; Widespread chorioretinal atrophy with the involvement of the posterior pole. Pigment abnormalities. ; Not available     ;"	""	""	""	""	""	""	""	""	""	"NR2E3-related retinal dystrophy"	""
"0000303160"	"04214"	"00411070"	"00000"	"Familial, autosomal recessive"	"35y"	"significant rod, cone, and macular dysfunction with an enhanced S-cone component. VA: profoundly reduced at hand movements in the RE and counting fingers in the LE. Fundus examination revealed nummular hypopigmented lesions involving the posterior pole and along the arcades, speckled yellow and pigment deposits outside the arcades. Macular subretinal fibrosis in RE. See paper..."	"4y"	""	"marked nyctalopia"	""	""	""	""	""	"recessive enhanced Scone syndrome (ESCS)"	"retinitis pigmentosa (RP)"	""
"0000320479"	"00112"	"00429607"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320501"	"04214"	"00429629"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320550"	"00112"	"00429678"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320573"	"00112"	"00429701"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320730"	"04214"	"00429858"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320951"	"00112"	"00430079"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336125"	"00198"	"00446926"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336131"	"00198"	"00446932"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336173"	"00198"	"00446974"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336174"	"00198"	"00446975"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336413"	"00198"	"00447214"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"eye diseaes"	""
"0000336486"	"00198"	"00447287"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336490"	"00198"	"00447291"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336495"	"00198"	"00447296"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336702"	"00198"	"00447503"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336885"	"00198"	"00447686"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"eye diseaes"	""
"0000336913"	"00198"	"00447714"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000348588"	"04214"	"00461088"	"00006"	"Familial, autosomal recessive"	""	""	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""


## Screenings ## Do not remove or alter this header ##
## Count = 424
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000032791"	"00032723"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032792"	"00032724"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032793"	"00032725"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
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"0000032849"	"00032781"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
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"0000032851"	"00032783"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032852"	"00032784"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032853"	"00032785"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032854"	"00032786"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032855"	"00032787"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032856"	"00032788"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032857"	"00032789"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032858"	"00032790"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032859"	"00032791"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032860"	"00032792"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032861"	"00032793"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032862"	"00032794"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032863"	"00032795"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
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"0000032865"	"00032797"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032866"	"00032798"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032867"	"00032799"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032868"	"00032800"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032869"	"00032801"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032870"	"00032802"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032871"	"00032803"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032872"	"00032804"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032873"	"00032805"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032874"	"00032806"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032875"	"00032807"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
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"0000032901"	"00032833"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032902"	"00032834"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032903"	"00032835"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032904"	"00032836"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032905"	"00032837"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032906"	"00032838"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032907"	"00032839"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032908"	"00032840"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032909"	"00032841"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032910"	"00032842"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032911"	"00032843"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032912"	"00032844"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032913"	"00032845"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032914"	"00032846"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032915"	"00032847"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
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"0000032919"	"00032851"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000032920"	"00032852"	"1"	"00223"	"00223"	"2011-01-17 22:32:01"	"00006"	"2012-05-18 13:59:33"	"SEQ"	"DNA"	""	""
"0000033220"	"00033152"	"1"	"00229"	"00229"	"2012-02-04 14:23:49"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033414"	"00033346"	"1"	"00039"	"00039"	"2012-09-18 13:36:00"	"00223"	"2014-03-05 13:59:22"	"SEQ"	"DNA"	""	""
"0000033685"	"00033617"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033686"	"00033618"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033687"	"00033619"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033688"	"00033620"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033689"	"00033621"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033690"	"00033622"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033691"	"00033623"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033692"	"00033624"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033693"	"00033625"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033694"	"00033626"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033695"	"00033627"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033696"	"00033628"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033697"	"00033629"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033698"	"00033630"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033699"	"00033631"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033700"	"00033632"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033701"	"00033633"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033702"	"00033634"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033703"	"00033635"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000033704"	"00033636"	"1"	"00223"	"00223"	"2014-03-06 22:05:21"	""	""	"SEQ"	"DNA"	""	""
"0000050525"	"00050580"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000100492"	"00100089"	"1"	"01769"	"01769"	"2017-01-30 18:02:28"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000156372"	"00155507"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156373"	"00155508"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156374"	"00155509"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156375"	"00155510"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156376"	"00155511"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156377"	"00155512"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156378"	"00155513"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000210062"	"00209005"	"1"	"00006"	"00006"	"2018-12-22 15:10:51"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000234374"	"00233275"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234375"	"00233276"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234376"	"00233277"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234377"	"00233278"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234378"	"00233279"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234379"	"00233280"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234380"	"00233281"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234381"	"00233282"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234382"	"00233283"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234383"	"00233284"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234384"	"00233285"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234385"	"00233286"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234386"	"00233287"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234387"	"00233288"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234388"	"00233289"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234389"	"00233290"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234390"	"00233291"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234880"	"00233781"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234881"	"00233782"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234882"	"00233783"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000292458"	"00291290"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296875"	"00295703"	"1"	"01807"	"01807"	"2020-03-24 15:22:51"	""	""	"SEQ"	"DNA"	""	""
"0000301720"	"00300599"	"1"	"01848"	"00006"	"2020-05-03 17:19:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000301721"	"00300600"	"1"	"01848"	"00006"	"2020-05-03 17:19:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000308834"	"00307694"	"1"	"01164"	"01164"	"2020-08-18 12:59:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000309891"	"00308746"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000310391"	"00309246"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310392"	"00309247"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310393"	"00309248"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310394"	"00309249"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310395"	"00309250"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310397"	"00309252"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310398"	"00309253"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310399"	"00309254"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310400"	"00309255"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310401"	"00309256"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310402"	"00309257"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310813"	"00309668"	"1"	"00006"	"00006"	"2020-08-31 18:12:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000326628"	"00325417"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326711"	"00325500"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329151"	"00327936"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329464"	"00328249"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329554"	"00328339"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000332501"	"00331281"	"1"	"00000"	"00006"	"2021-02-11 10:36:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000333421"	"00332201"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333422"	"00332202"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333423"	"00332203"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333759"	"00332535"	"1"	"00000"	"00006"	"2021-02-20 09:48:27"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000334585"	"00333360"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000335076"	"00333850"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335136"	"00333910"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335220"	"00333994"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335221"	"00333995"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335222"	"00333996"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335693"	"00334464"	"1"	"00000"	"00006"	"2021-02-28 17:46:08"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335786"	"00334557"	"1"	"00000"	"00006"	"2021-03-01 15:50:09"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336357"	"00335128"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336358"	"00335129"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336568"	"00335339"	"1"	"02485"	"00006"	"2021-03-04 17:06:33"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336813"	"00335585"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ"	"DNA"	""	""
"0000336814"	"00335586"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ"	"DNA"	""	""
"0000359948"	"00358718"	"1"	"00000"	"00006"	"2021-03-11 13:59:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360353"	"00359115"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360606"	"00359364"	"1"	"00000"	"00006"	"2021-03-19 18:50:51"	""	""	"SEQ-NG"	"DNA"	""	"64-gene panel"
"0000364115"	"00362887"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364469"	"00363241"	"1"	"00000"	"00006"	"2021-04-26 15:58:48"	""	""	"SEQ"	"DNA"	""	""
"0000364688"	"00363460"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"195-gene panel"
"0000364825"	"00363597"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364828"	"00363600"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364832"	"00363604"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364835"	"00363607"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364853"	"00363625"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364941"	"00363713"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000365099"	"00363871"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000365100"	"00363872"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000373874"	"00372642"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373875"	"00372643"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374613"	"00373378"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000375047"	"00373815"	"1"	"00000"	"00006"	"2021-05-21 12:20:36"	""	""	"arraySEQ"	"DNA"	""	"Reseq"
"0000376132"	"00374938"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376533"	"00375336"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376617"	"00375420"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377958"	"00376752"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377961"	"00376755"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377973"	"00376767"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377984"	"00376778"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378412"	"00377207"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel; WES"
"0000378463"	"00377258"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378585"	"00377382"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378586"	"00377383"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378587"	"00377384"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378588"	"00377385"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378589"	"00377386"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378590"	"00377387"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378591"	"00377388"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000379127"	"00377923"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379128"	"00377924"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379129"	"00377925"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379130"	"00377926"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379131"	"00377927"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379148"	"00377944"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000380582"	"00379382"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380583"	"00379383"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380584"	"00379384"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380777"	"00379578"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380778"	"00379579"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380813"	"00379614"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	"adRP genotyping microarray"
"0000380814"	"00379615"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"arraySNP"	"DNA"	"blood"	"adRP genotyping microarray"
"0000381327"	"00380125"	"1"	"00000"	"03840"	"2021-08-10 09:47:12"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000381330"	"00380128"	"1"	"00000"	"03840"	"2021-08-10 09:47:12"	""	""	"SEQ-NG"	"DNA"	""	"322 eye disease gene panel"
"0000381344"	"00380142"	"1"	"00000"	"03840"	"2021-08-10 09:47:12"	""	""	"SEQ-NG"	"DNA"	""	"322 eye disease gene panel"
"0000381387"	"00380185"	"1"	"00000"	"03840"	"2021-08-11 10:47:34"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381521"	"00380307"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000381522"	"00380308"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000381592"	"00380378"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000382263"	"00381049"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382448"	"00381233"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382894"	"00381678"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382994"	"00381778"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000383091"	"00381875"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383092"	"00381876"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383093"	"00381877"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383130"	"00381914"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383542"	"00382328"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383543"	"00382329"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383544"	"00382330"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383545"	"00382331"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383546"	"00382332"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000384066"	"00382850"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"SEQ"	"DNA"	""	""
"0000384072"	"00382856"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"SEQ"	"DNA"	""	""
"0000384673"	"00383448"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384674"	"00383449"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384999"	"00383774"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385239"	"00384014"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000385273"	"00384048"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385316"	"00384091"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385319"	"00384094"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385325"	"00384100"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385332"	"00384107"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385334"	"00384109"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385342"	"00384117"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385362"	"00384137"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385373"	"00384148"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385385"	"00384160"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385399"	"00384174"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385993"	"00384767"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000387774"	"00386546"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387813"	"00386585"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387828"	"00386600"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387860"	"00386632"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387893"	"00386665"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387966"	"00386738"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387999"	"00386771"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388005"	"00386777"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388122"	"00386894"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388124"	"00386896"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388126"	"00386898"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388742"	"00387516"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"PE"	"DNA"	""	""
"0000388895"	"00387669"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389431"	"00388192"	"1"	"00006"	"00006"	"2021-11-02 18:56:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389432"	"00388193"	"1"	"00006"	"00006"	"2021-11-02 18:56:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389433"	"00388194"	"1"	"00006"	"00006"	"2021-11-02 18:56:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389960"	"00388717"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389961"	"00388718"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000389993"	"00388750"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000389994"	"00388751"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389995"	"00388752"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389996"	"00388753"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389997"	"00388754"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389998"	"00388755"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390294"	"00389051"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000390295"	"00389052"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390324"	"00389081"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390495"	"00389252"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390657"	"00389414"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390658"	"00389415"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390714"	"00389471"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390715"	"00389472"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390803"	"00389560"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390851"	"00389608"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390890"	"00389647"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390895"	"00389652"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391099"	"00389856"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000391136"	"00389893"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000391143"	"00389900"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391199"	"00389956"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391563"	"00390322"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391564"	"00390323"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391565"	"00390324"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391566"	"00390325"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392014"	"00390773"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392606"	"00391364"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000392999"	"00391756"	"1"	"00000"	"03840"	"2021-11-18 15:02:57"	""	""	"SEQ-NG"	"DNA"	"blood"	"Panel-based testing"
"0000395728"	"00394481"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395729"	"00394482"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397723"	"00396480"	"1"	"00000"	"03840"	"2021-12-16 12:35:05"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"panel of 254 genes implicated in retinopathies"
"0000401031"	"00399788"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000409317"	"00408062"	"1"	"00000"	"03840"	"2022-04-13 12:09:21"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000412274"	"00411010"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ"	"DNA"	"venous blood"	""
"0000412275"	"00411011"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ"	"DNA"	"venous blood"	""
"0000412276"	"00411012"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ"	"DNA"	""	""
"0000412277"	"00411013"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ"	"DNA"	""	""
"0000412278"	"00411014"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412279"	"00411015"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412280"	"00411016"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412281"	"00411017"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412282"	"00411018"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412283"	"00411019"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412284"	"00411020"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412285"	"00411021"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412286"	"00411022"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412287"	"00411023"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412288"	"00411024"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412289"	"00411025"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412290"	"00411026"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412291"	"00411027"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412292"	"00411028"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412293"	"00411029"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412294"	"00411030"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412295"	"00411031"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412296"	"00411032"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412297"	"00411033"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412298"	"00411034"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412299"	"00411035"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412300"	"00411036"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412301"	"00411037"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412302"	"00411038"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412303"	"00411039"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412304"	"00411040"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412305"	"00411041"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412306"	"00411042"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412307"	"00411043"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412308"	"00411044"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412309"	"00411045"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412310"	"00411046"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412311"	"00411047"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412312"	"00411048"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412313"	"00411049"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412314"	"00411050"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412315"	"00411051"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412316"	"00411052"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412317"	"00411053"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412318"	"00411054"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412319"	"00411055"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412320"	"00411056"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412321"	"00411057"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412322"	"00411058"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412323"	"00411059"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412324"	"00411060"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412325"	"00411061"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412326"	"00411062"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412327"	"00411063"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412328"	"00411064"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412329"	"00411065"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412330"	"00411066"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412331"	"00411067"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412332"	"00411068"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412333"	"00411069"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"?"	"DNA"	""	""
"0000412334"	"00411070"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000431020"	"00429607"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431042"	"00429629"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431091"	"00429678"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431114"	"00429701"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431271"	"00429858"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431492"	"00430079"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448503"	"00446926"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448509"	"00446932"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448551"	"00446974"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448552"	"00446975"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448791"	"00447214"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448864"	"00447287"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448868"	"00447291"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448873"	"00447296"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449080"	"00447503"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449263"	"00447686"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449291"	"00447714"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000462720"	"00461088"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 392
"{{screeningid}}"	"{{geneid}}"
"0000032791"	"NR2E3"
"0000032792"	"NR2E3"
"0000032793"	"NR2E3"
"0000032794"	"NR2E3"
"0000032795"	"NR2E3"
"0000032796"	"NR2E3"
"0000032797"	"NR2E3"
"0000032798"	"NR2E3"
"0000032799"	"NR2E3"
"0000032800"	"NR2E3"
"0000032801"	"NR2E3"
"0000032802"	"NR2E3"
"0000032803"	"NR2E3"
"0000032804"	"NR2E3"
"0000032805"	"NR2E3"
"0000032806"	"NR2E3"
"0000032807"	"NR2E3"
"0000032808"	"NR2E3"
"0000032809"	"NR2E3"
"0000032810"	"NR2E3"
"0000032811"	"NR2E3"
"0000032812"	"NR2E3"
"0000032813"	"NR2E3"
"0000032814"	"NR2E3"
"0000032815"	"NR2E3"
"0000032816"	"NR2E3"
"0000032817"	"NR2E3"
"0000032818"	"NR2E3"
"0000032819"	"NR2E3"
"0000032820"	"NR2E3"
"0000032821"	"NR2E3"
"0000032822"	"NR2E3"
"0000032823"	"NR2E3"
"0000032824"	"NR2E3"
"0000032825"	"NR2E3"
"0000032826"	"NR2E3"
"0000032827"	"NR2E3"
"0000032828"	"NR2E3"
"0000032829"	"NR2E3"
"0000032830"	"NR2E3"
"0000032831"	"NR2E3"
"0000032832"	"NR2E3"
"0000032833"	"NR2E3"
"0000032834"	"NR2E3"
"0000032835"	"NR2E3"
"0000032836"	"NR2E3"
"0000032837"	"NR2E3"
"0000032838"	"NR2E3"
"0000032839"	"NR2E3"
"0000032840"	"NR2E3"
"0000032841"	"NR2E3"
"0000032842"	"NR2E3"
"0000032843"	"NR2E3"
"0000032844"	"NR2E3"
"0000032845"	"NR2E3"
"0000032846"	"NR2E3"
"0000032847"	"NR2E3"
"0000032848"	"NR2E3"
"0000032849"	"NR2E3"
"0000032850"	"NR2E3"
"0000032851"	"NR2E3"
"0000032852"	"NR2E3"
"0000032853"	"NR2E3"
"0000032854"	"NR2E3"
"0000032855"	"NR2E3"
"0000032856"	"NR2E3"
"0000032857"	"NR2E3"
"0000032858"	"NR2E3"
"0000032859"	"NR2E3"
"0000032860"	"NR2E3"
"0000032861"	"NR2E3"
"0000032862"	"NR2E3"
"0000032863"	"NR2E3"
"0000032864"	"NR2E3"
"0000032865"	"NR2E3"
"0000032866"	"NR2E3"
"0000032867"	"NR2E3"
"0000032868"	"NR2E3"
"0000032869"	"NR2E3"
"0000032870"	"NR2E3"
"0000032871"	"NR2E3"
"0000032872"	"NR2E3"
"0000032873"	"NR2E3"
"0000032874"	"NR2E3"
"0000032875"	"NR2E3"
"0000032876"	"NR2E3"
"0000032877"	"NR2E3"
"0000032878"	"NR2E3"
"0000032879"	"NR2E3"
"0000032880"	"NR2E3"
"0000032881"	"NR2E3"
"0000032882"	"NR2E3"
"0000032883"	"NR2E3"
"0000032884"	"NR2E3"
"0000032900"	"NR2E3"
"0000032901"	"NR2E3"
"0000032902"	"NR2E3"
"0000032903"	"NR2E3"
"0000032904"	"NR2E3"
"0000032905"	"NR2E3"
"0000032906"	"NR2E3"
"0000032907"	"NR2E3"
"0000032908"	"NR2E3"
"0000032909"	"NR2E3"
"0000032910"	"NR2E3"
"0000032911"	"NR2E3"
"0000032912"	"NR2E3"
"0000032913"	"NR2E3"
"0000032914"	"NR2E3"
"0000032915"	"NR2E3"
"0000032916"	"NR2E3"
"0000032917"	"NR2E3"
"0000032918"	"NR2E3"
"0000032919"	"NR2E3"
"0000032920"	"NR2E3"
"0000033220"	"ABCA4"
"0000033220"	"AIPL1"
"0000033220"	"GUCY2D"
"0000033220"	"NR2E3"
"0000033414"	"NR2E3"
"0000033685"	"NR2E3"
"0000033686"	"NR2E3"
"0000033687"	"NR2E3"
"0000033688"	"NR2E3"
"0000033689"	"NR2E3"
"0000033690"	"NR2E3"
"0000033691"	"NR2E3"
"0000033692"	"NR2E3"
"0000033693"	"NR2E3"
"0000033694"	"NR2E3"
"0000033695"	"NR2E3"
"0000033696"	"NR2E3"
"0000033697"	"NR2E3"
"0000033698"	"NR2E3"
"0000033699"	"NR2E3"
"0000033700"	"NR2E3"
"0000033701"	"NR2E3"
"0000033702"	"NR2E3"
"0000033703"	"NR2E3"
"0000033704"	"NR2E3"
"0000100492"	"NR2E3"
"0000156372"	"NR2E3"
"0000156373"	"NR2E3"
"0000156374"	"NR2E3"
"0000156375"	"NR2E3"
"0000156376"	"NR2E3"
"0000156377"	"NR2E3"
"0000156378"	"NR2E3"
"0000210062"	"NR2E3"
"0000234374"	"NR2E3"
"0000234375"	"NR2E3"
"0000234376"	"NR2E3"
"0000234377"	"NR2E3"
"0000234378"	"NR2E3"
"0000234379"	"NR2E3"
"0000234380"	"NR2E3"
"0000234381"	"NR2E3"
"0000234382"	"NR2E3"
"0000234383"	"NR2E3"
"0000234384"	"NR2E3"
"0000234385"	"NR2E3"
"0000234386"	"NR2E3"
"0000234387"	"NR2E3"
"0000234388"	"NR2E3"
"0000234389"	"NR2E3"
"0000234390"	"NR2E3"
"0000234880"	"NR2E3"
"0000234881"	"NR2E3"
"0000234882"	"NR2E3"
"0000301720"	"NR2E3"
"0000301721"	"NR2E3"
"0000309891"	"NR2E3"
"0000310391"	"NR2E3"
"0000310392"	"NR2E3"
"0000310393"	"NR2E3"
"0000310394"	"NR2E3"
"0000310395"	"NR2E3"
"0000310397"	"NR2E3"
"0000310398"	"NR2E3"
"0000310399"	"NR2E3"
"0000310400"	"NR2E3"
"0000310401"	"NR2E3"
"0000310402"	"NR2E3"
"0000310813"	"NR2E3"
"0000326628"	"NR2E3"
"0000326711"	"NR2E3"
"0000329151"	"NR2E3"
"0000329464"	"NR2E3"
"0000329554"	"NR2E3"
"0000332501"	"NR2E3"
"0000333759"	"NR2E3"
"0000334585"	"NR2E3"
"0000335076"	"NR2E3"
"0000335136"	"NR2E3"
"0000335220"	"NR2E3"
"0000335221"	"NR2E3"
"0000335222"	"NR2E3"
"0000335693"	"NR2E3"
"0000335786"	"NR2E3"
"0000336357"	"NR2E3"
"0000336358"	"NR2E3"
"0000336568"	"NR2E3"
"0000336813"	"NR2E3"
"0000336814"	"NR2E3"
"0000359948"	"NR2E3"
"0000364115"	"NR2E3"
"0000364469"	"NR2E3"
"0000364469"	"OTOA"
"0000364688"	"NR2E3"
"0000364825"	"NR2E3"
"0000364828"	"NR2E3"
"0000364832"	"NR2E3"
"0000364835"	"NR2E3"
"0000364853"	"NR2E3"
"0000364941"	"NR2E3"
"0000365099"	"NR2E3"
"0000365100"	"NR2E3"
"0000375047"	"NR2E3"
"0000376533"	"NR2E3"
"0000378412"	"NR2E3"
"0000378463"	"NR2E3"
"0000378585"	"NR2E3"
"0000378586"	"NR2E3"
"0000378587"	"NR2E3"
"0000378588"	"NR2E3"
"0000378589"	"NR2E3"
"0000378590"	"NR2E3"
"0000378591"	"NR2E3"
"0000379127"	"NR2E3"
"0000379128"	"NR2E3"
"0000379129"	"NR2E3"
"0000379130"	"NR2E3"
"0000379131"	"NR2E3"
"0000379148"	"NR2E3"
"0000380582"	"NR2E3"
"0000380583"	"NR2E3"
"0000380584"	"NR2E3"
"0000380777"	"NR2E3"
"0000380778"	"NR2E3"
"0000380813"	"NR2E3"
"0000380814"	"NR2E3"
"0000381387"	"NR2E3"
"0000381521"	"NR2E3"
"0000381522"	"NR2E3"
"0000381592"	"NR2E3"
"0000382263"	"NR2E3"
"0000382448"	"NR2E3"
"0000382894"	"NR2E3"
"0000382994"	"NR2E3"
"0000383091"	"NR2E3"
"0000383092"	"NR2E3"
"0000383093"	"NR2E3"
"0000383130"	"NR2E3"
"0000383542"	"NR2E3"
"0000383543"	"NR2E3"
"0000383544"	"NR2E3"
"0000383545"	"NR2E3"
"0000383546"	"NR2E3"
"0000384066"	"NR2E3"
"0000384072"	"NR2E3"
"0000384673"	"NR2E3"
"0000384674"	"NR2E3"
"0000384999"	"NR2E3"
"0000385239"	"NR2E3"
"0000385273"	"NR2E3"
"0000385316"	"NR2E3"
"0000385319"	"NR2E3"
"0000385325"	"NR2E3"
"0000385332"	"NR2E3"
"0000385334"	"NR2E3"
"0000385342"	"NR2E3"
"0000385362"	"NR2E3"
"0000385373"	"NR2E3"
"0000385385"	"NR2E3"
"0000385399"	"NR2E3"
"0000385993"	"NR2E3"
"0000387774"	"NR2E3"
"0000387813"	"NR2E3"
"0000387828"	"NR2E3"
"0000387860"	"NR2E3"
"0000387893"	"NR2E3"
"0000387966"	"NR2E3"
"0000387999"	"NR2E3"
"0000388005"	"NR2E3"
"0000388122"	"RBP3"
"0000388124"	"NR2E3"
"0000388126"	"NR2E3"
"0000388742"	"NR2E3"
"0000388895"	"NR2E3"
"0000389960"	"NR2E3"
"0000389961"	"NR2E3"
"0000389993"	"NR2E3"
"0000389994"	"NR2E3"
"0000389995"	"NR2E3"
"0000389996"	"NR2E3"
"0000389997"	"NR2E3"
"0000389998"	"NR2E3"
"0000390294"	"NR2E3"
"0000390295"	"NR2E3"
"0000390324"	"NR2E3"
"0000390495"	"NR2E3"
"0000390657"	"NR2E3"
"0000390658"	"NR2E3"
"0000390714"	"NR2E3"
"0000390715"	"NR2E3"
"0000390803"	"NR2E3"
"0000390851"	"NR2E3"
"0000390890"	"NR2E3"
"0000390895"	"NR2E3"
"0000391099"	"NR2E3"
"0000391136"	"NR2E3"
"0000391143"	"NR2E3"
"0000391199"	"NR2E3"
"0000391563"	"NR2E3"
"0000391564"	"NR2E3"
"0000391565"	"NR2E3"
"0000391566"	"NR2E3"
"0000392014"	"NR2E3"
"0000392606"	"NR2E3"
"0000392999"	"NR2E3"
"0000395728"	"NR2E3"
"0000395729"	"NR2E3"
"0000397723"	"NR2E3"
"0000401031"	"MERTK"
"0000409317"	"NR2E3"
"0000412274"	"NR2E3"
"0000412275"	"NR2E3"
"0000412276"	"NR2E3"
"0000412277"	"NR2E3"
"0000412278"	"NR2E3"
"0000412279"	"NR2E3"
"0000412280"	"NR2E3"
"0000412281"	"NR2E3"
"0000412282"	"NR2E3"
"0000412283"	"NR2E3"
"0000412284"	"NR2E3"
"0000412285"	"NR2E3"
"0000412286"	"NR2E3"
"0000412287"	"NR2E3"
"0000412288"	"NR2E3"
"0000412289"	"NR2E3"
"0000412290"	"NR2E3"
"0000412291"	"NR2E3"
"0000412292"	"NR2E3"
"0000412293"	"NR2E3"
"0000412294"	"NR2E3"
"0000412295"	"NR2E3"
"0000412296"	"NR2E3"
"0000412297"	"NR2E3"
"0000412298"	"NR2E3"
"0000412299"	"NR2E3"
"0000412300"	"NR2E3"
"0000412301"	"NR2E3"
"0000412302"	"NR2E3"
"0000412303"	"NR2E3"
"0000412304"	"NR2E3"
"0000412305"	"NR2E3"
"0000412306"	"NR2E3"
"0000412307"	"NR2E3"
"0000412308"	"NR2E3"
"0000412309"	"NR2E3"
"0000412310"	"NR2E3"
"0000412311"	"NR2E3"
"0000412312"	"NR2E3"
"0000412313"	"NR2E3"
"0000412314"	"NR2E3"
"0000412315"	"NR2E3"
"0000412316"	"NR2E3"
"0000412317"	"NR2E3"
"0000412318"	"NR2E3"
"0000412319"	"NR2E3"
"0000412320"	"NR2E3"
"0000412321"	"NR2E3"
"0000412322"	"NR2E3"
"0000412323"	"NR2E3"
"0000412324"	"NR2E3"
"0000412325"	"NR2E3"
"0000412326"	"NR2E3"
"0000412327"	"NR2E3"
"0000412328"	"NR2E3"
"0000412329"	"NR2E3"
"0000412330"	"NR2E3"
"0000412331"	"NR2E3"
"0000412332"	"NR2E3"
"0000412333"	"NR2E3"
"0000412334"	"NR2E3"
"0000431020"	"NR2E3"
"0000431042"	"NR2E3"
"0000431091"	"NR2E3"
"0000431114"	"NR2E3"
"0000431271"	"NR2E3"
"0000431492"	"NR2E3"


## 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 = 619
"{{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}}"
"0000059952"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059953"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059954"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059955"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059956"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059957"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059958"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059959"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059960"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059961"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059962"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059963"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059964"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059965"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059966"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059967"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059968"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059969"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059970"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059971"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059972"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059973"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059974"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059975"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059976"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059977"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059978"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059979"	"3"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059980"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059981"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059982"	"1"	"99"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00223"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haider 2000:10655056}"	""	"IVS1-2A>C"	"deleterious variant: skipping of exon 2 (Bernal 2008)"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000059983"	"3"	"99"	"15"	"72103820"	"72103820"	"subst"	"0"	"00223"	"NR2E3_000002"	"g.72103820C>G"	""	"{PMID:Audo 2008:18436841}"	""	"IVS1-3C>G"	"deleterious variant: skipping of exon 2"	"Germline"	""	""	"0"	""	""	"g.71811480C>G"	""	"pathogenic"	""
"0000059984"	"3"	"99"	"15"	"72103849"	"72103849"	"subst"	"0"	"00223"	"NR2E3_000003"	"g.72103849G>A"	""	"{PMID:Audo 2008:18436841}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811509G>A"	""	"pathogenic"	""
"0000059985"	"3"	"99"	"15"	"72103930"	"72103930"	"subst"	"3.09891E-5"	"00223"	"NR2E3_000004"	"g.72103930C>T"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811590C>T"	""	"pathogenic"	""
"0000059986"	"3"	"99"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00223"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811591G>A"	""	"pathogenic"	""
"0000059987"	"3"	"99"	"15"	"72104123"	"72104123"	"subst"	"0"	"00223"	"NR2E3_000006"	"g.72104123G>T"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811783G>T"	""	"pathogenic"	""
"0000059988"	"3"	"99"	"15"	"72104150"	"72104150"	"subst"	"0"	"00223"	"NR2E3_000007"	"g.72104150G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811810G>A"	""	"pathogenic"	""
"0000059989"	"2"	"99"	"15"	"72104150"	"72104150"	"subst"	"0"	"00223"	"NR2E3_000007"	"g.72104150G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811810G>A"	""	"pathogenic"	""
"0000059990"	"3"	"99"	"15"	"72104170"	"72104170"	"subst"	"0"	"00223"	"NR2E3_000008"	"g.72104170C>T"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811830C>T"	""	"pathogenic"	""
"0000059991"	"2"	"99"	"15"	"72104170"	"72104170"	"subst"	"0"	"00223"	"NR2E3_000008"	"g.72104170C>T"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811830C>T"	""	"pathogenic"	""
"0000059992"	"3"	"99"	"15"	"72104170"	"72104170"	"subst"	"0"	"00223"	"NR2E3_000008"	"g.72104170C>T"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811830C>T"	""	"pathogenic"	""
"0000059993"	"3"	"99"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00223"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"pathogenic"	""
"0000059994"	"2"	"99"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00223"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"pathogenic"	""
"0000059995"	"1"	"99"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00223"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"pathogenic"	""
"0000059996"	"1"	"99"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00223"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"pathogenic"	""
"0000059997"	"3"	"99"	"15"	"72105906"	"72105906"	"subst"	"4.17014E-6"	"00223"	"NR2E3_000010"	"g.72105906C>G"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71813566C>G"	""	"pathogenic"	""
"0000059998"	"1"	"99"	"15"	"72105906"	"72105906"	"subst"	"4.17014E-6"	"00223"	"NR2E3_000010"	"g.72105906C>G"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71813566C>G"	""	"pathogenic"	""
"0000059999"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060000"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060001"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060002"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060003"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060004"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060005"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060006"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060007"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060008"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060009"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060010"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060011"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060012"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060013"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060014"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060015"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060016"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060017"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060018"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060019"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060020"	"2"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060021"	"1"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060022"	"1"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant, variant 2 unknown: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060023"	"1"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060024"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060025"	"3"	"99"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00223"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Escher 2009),  (Takezawa 2007)"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000060026"	"3"	"99"	"15"	"72106392"	"72106396"	"del"	"0"	"00223"	"NR2E3_000012"	"g.72106392_72106396del"	""	"{PMID:Bernal 2008:18294254}"	""	"1034_1038del5"	"deleterious variant: truncated LBD"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060027"	"3"	"99"	"15"	"72106406"	"72106406"	"subst"	"0"	"00223"	"NR2E3_000013"	"g.72106406C>T"	""	"{PMID:Nakamura 2004:15453866}"	""	""	"deleterious variant: truncated LBD"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060028"	"3"	"99"	"15"	"72109892"	"72109892"	"subst"	"0"	"00223"	"NR2E3_000014"	"g.72109892G>A"	""	"{PMID:Audo 2008:18436841}"	""	"IVS8-1G>A"	"deleterious variant: skipping of exon 8"	"Germline"	""	""	"0"	""	""	"g.71817551G>A"	""	"pathogenic"	""
"0000060029"	"3"	"99"	"15"	"72110012"	"72110012"	"subst"	"8.15947E-6"	"00223"	"NR2E3_000015"	"g.72110012T>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Chen and Nathans 2005)"	"Germline"	""	""	"0"	""	""	"g.71817671T>A"	""	"pathogenic"	""
"0000060030"	"2"	"99"	"15"	"72103898"	"72103906"	"del"	"0"	"00223"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Haider 2000:10655056}"	""	"p.C67_G69del"	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811558_71811566del"	""	"pathogenic"	""
"0000060031"	"2"	"99"	"15"	"72103898"	"72103906"	"del"	"0"	"00223"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Haider 2000:10655056}"	""	"p.C67_G69del"	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811558_71811566del"	""	"pathogenic"	""
"0000060032"	"1"	"99"	"15"	"72103898"	"72103906"	"del"	"0"	"00223"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Haider 2000:10655056}"	""	"p.C67_G69del"	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811558_71811566del"	""	"pathogenic"	""
"0000060033"	"1"	"99"	"15"	"72103898"	"72103906"	"del"	"0"	"00223"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Haider 2000:10655056}"	""	"p.C67_G69del"	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811558_71811566del"	""	"pathogenic"	""
"0000060034"	"2"	"99"	"15"	"72103898"	"72103906"	"del"	"0"	"00223"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Haider 2000:10655056}"	""	"p.C67_G69del"	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811558_71811566del"	""	"pathogenic"	""
"0000060035"	"2"	"99"	"15"	"72103946"	"72103946"	"subst"	"0"	"00223"	"NR2E3_000017"	"g.72103946A>G"	""	"{PMID:Audo 2008:18436841}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811606A>G"	""	"pathogenic"	""
"0000060036"	"2"	"99"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00223"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Sharon 2003:12963616}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71813408C>A"	""	"pathogenic"	""
"0000060037"	"2"	"99"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00223"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Sharon 2003:12963616}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71813408C>A"	""	"pathogenic"	""
"0000060038"	"2"	"99"	"15"	"72105748"	"72105748"	"subst"	"2.08815E-5"	"00223"	"NR2E3_000019"	"g.72105748C>T"	""	"{PMID:Lam 2007:17601449}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71813408C>T"	""	"pathogenic"	""
"0000060039"	"2"	"99"	"15"	"72105769"	"72105769"	"subst"	"0"	"00223"	"NR2E3_000020"	"g.72105769T>C"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71813429T>C"	""	"pathogenic"	""
"0000060040"	"2"	"99"	"15"	"72105808"	"72105824"	"del"	"0"	"00223"	"NR2E3_000021"	"g.72105808_72105824del"	""	"{PMID:Sharon 2003:12963616}"	""	""	"deleterious variant: truncated LBD"	"Germline"	""	""	"0"	""	""	"g.71813468_71813484del"	""	"pathogenic"	""
"0000060041"	"2"	"99"	"15"	"72106365"	"72106365"	"subst"	"0"	"00223"	"NR2E3_000022"	"g.72106365T>C"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71814024T>C"	""	"pathogenic"	""
"0000060042"	"2"	"99"	"15"	"72106453"	"72106453"	"subst"	"8.2883E-6"	"00223"	"NR2E3_000023"	"g.72106453C>G"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant: aberrant splicing"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060043"	"1"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060044"	"2"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060045"	"1"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060046"	"2"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060047"	"1"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060048"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060049"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060050"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060051"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060052"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060053"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060054"	"0"	"99"	"15"	"72103870"	"72103870"	"subst"	"0"	"00223"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"deleterious variant: no DNA binding, CRX trans-repression (Escher 2009), (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000060055"	"1"	"99"	"15"	"72103915"	"72103917"	"del"	"0"	"00223"	"NR2E3_000025"	"g.72103915_72103917del"	""	"{PMID:Pachydaki 2009:19139342}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811575_71811577del"	""	"pathogenic"	""
"0000060056"	"1"	"99"	"15"	"72104171"	"72104171"	"subst"	"0"	"00223"	"NR2E3_000026"	"g.72104171G>A"	""	"{PMID:Hayashi 2005:16225923}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811831G>A"	""	"pathogenic"	""
"0000060057"	"2"	"99"	"15"	"72104171"	"72104171"	"subst"	"0"	"00223"	"NR2E3_000026"	"g.72104171G>A"	""	"{PMID:Hayashi 2005:16225923}"	""	""	"deleterious variant: no DNA binding (Roduit 2009)"	"Germline"	""	""	"0"	""	""	"g.71811831G>A"	""	"pathogenic"	""
"0000060058"	"2"	"99"	"15"	"72106358"	"72106358"	"subst"	"0"	"00223"	"NR2E3_000027"	"g.72106358C>G"	""	"{PMID:Hayashi 2005:16225923}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71814017C>G"	""	"pathogenic"	""
"0000060059"	"2"	"99"	"15"	"72106415"	"72106415"	"subst"	"0"	"00223"	"NR2E3_000028"	"g.72106415C>G"	""	"{PMID:Wright 2004:15459973}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71814074C>G"	""	"pathogenic"	""
"0000060060"	"1"	"99"	"15"	"72104805"	"72104805"	"subst"	"0"	"00223"	"NR2E3_000029"	"g.72104805G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant, variant 2 unknown: im paired repression (Peng 2005)"	"Germline"	""	""	"0"	""	""	"g.71812465G>A"	""	"pathogenic"	""
"0000060061"	"1"	"99"	"15"	"72104852"	"72104852"	"subst"	"0"	"00223"	"NR2E3_000030"	"g.72104852G>C"	""	"{PMID:Bandah 2009:19273793}"	""	""	"deleterious variant: skipping of exon 6"	"Germline"	""	""	"0"	""	""	"g.71812512G>C"	""	"pathogenic"	""
"0000060062"	"2"	"99"	"15"	"72106407"	"72106407"	"subst"	"8.18599E-6"	"00223"	"NR2E3_000031"	"g.72106407A>G"	""	"{PMID:Pachydaki 2009:19139342}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71814066A>G"	""	"pathogenic"	""
"0000060063"	"0"	"50"	"15"	"72104306"	"72104306"	"subst"	"0.00429815"	"00223"	"NR2E3_000032"	"g.72104306G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811966G>A"	""	"VUS"	""
"0000060064"	"0"	"50"	"15"	"72104306"	"72104306"	"subst"	"0.00429815"	"00223"	"NR2E3_000032"	"g.72104306G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811966G>A"	""	"VUS"	""
"0000060065"	"0"	"99"	"15"	"72109946"	"72109946"	"subst"	"4.06121E-6"	"00223"	"NR2E3_000033"	"g.72109946G>C"	""	"{PMID:Haider 2000:10655056}"	""	""	"deleterious variant: im paired repression (Fradot 2007)"	"Germline"	""	""	"0"	""	""	"g.71817605G>C"	""	"pathogenic"	""
"0000060066"	"0"	"11"	"15"	"72103795"	"72103795"	"subst"	"0.0723678"	"00223"	"NR2E3_000034"	"g.72103795T>C"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	"rs2742318"	"0"	""	""	"g.71811455T>C"	""	"benign"	""
"0000060067"	"0"	"11"	"15"	"72103796"	"72103811"	"del"	"0"	"00223"	"NR2E3_000035"	"g.72103796_72103811del"	""	"{PMID:Haider 2000:10655056}"	""	"119-27del16"	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811456_71811471del"	""	"benign"	""
"0000060068"	"0"	"11"	"15"	"72103796"	"72103811"	"dup"	"0"	"00223"	"NR2E3_000036"	"g.72103796_72103811dup"	""	"{PMID:Coppieters 2007:17564971}"	""	"119-27dup16"	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811456_71811471dup"	""	"benign"	""
"0000060069"	"0"	"11"	"15"	"72103914"	"72103914"	"subst"	"0"	"00223"	"NR2E3_000037"	"g.72103914C>T"	""	"{PMID:Schorderet and Escher 2009:19718767}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811574C>T"	""	"benign"	""
"0000060070"	"0"	"11"	"15"	"72103957"	"72103957"	"subst"	"0.000910154"	"00223"	"NR2E3_000038"	"g.72103957C>T"	""	"{PMID:Sharon 2003:12963616}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811617C>T"	""	"benign"	""
"0000060071"	"0"	"11"	"15"	"72104145"	"72104145"	"subst"	"0"	"00223"	"NR2E3_000039"	"g.72104145C>T"	""	"{PMID:Audo 2008:18436841}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811805C>T"	""	"benign"	""
"0000060072"	"0"	"11"	"15"	"72104193"	"72104193"	"subst"	"0"	"00223"	"NR2E3_000040"	"g.72104193G>T"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811853G>T"	""	"benign"	""
"0000060073"	"0"	"11"	"15"	"72104364"	"72104364"	"subst"	"0.0386683"	"00223"	"NR2E3_000041"	"g.72104364A>G"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	"rs1805020"	"0"	""	""	"g.71812024A>G"	""	"benign"	""
"0000060074"	"0"	"11"	"15"	"72104433"	"72104433"	"subst"	"0.0394348"	"00223"	"NR2E3_000042"	"g.72104433T>C"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	"rs1805021"	"0"	""	""	"g.71812093T>C"	""	"benign"	""
"0000060075"	"0"	"11"	"15"	"72104450"	"72104450"	"subst"	"0.0030106"	"00223"	"NR2E3_000043"	"g.72104450C>T"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71812110C>T"	""	"benign"	""
"0000060076"	"0"	"11"	"15"	"72104798"	"72104798"	"subst"	"0.00173416"	"00223"	"NR2E3_000044"	"g.72104798G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71812458G>A"	""	"benign"	""
"0000060077"	"0"	"11"	"15"	"72104941"	"72104941"	"subst"	"0"	"00223"	"NR2E3_000045"	"g.72104941C>T"	""	"{PMID:Bernal 2008:18294254}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71812601C>T"	""	"benign"	""
"0000060078"	"0"	"11"	"15"	"72105845"	"72105845"	"subst"	"0.000188992"	"00223"	"NR2E3_000046"	"g.72105845T>A"	""	"{PMID:Audo 2008:18436841}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71813505T>A"	""	"benign"	""
"0000060079"	"0"	"11"	"15"	"72105863"	"72105863"	"subst"	"2.45272E-5"	"00223"	"NR2E3_000047"	"g.72105863G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71813523G>A"	""	"benign"	""
"0000060080"	"0"	"11"	"15"	"72105885"	"72105885"	"subst"	"0.00374067"	"00223"	"NR2E3_000048"	"g.72105885G>A"	""	"{PMID:Haider 2000:10655056}"	""	""	"polymorphism"	"Germline"	""	"rs1805025"	"0"	""	""	"g.71813545G>A"	""	"benign"	""
"0000060081"	"0"	"11"	"15"	"72106363"	"72106363"	"subst"	"0.000831396"	"00223"	"NR2E3_000049"	"g.72106363C>A"	""	"{PMID:Schorderet and Escher 2009:19718767}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71814022C>A"	""	"benign"	""
"0000060082"	"0"	"50"	"15"	"72103150"	"72103150"	"subst"	"1.13234E-5"	"00223"	"NR2E3_000050"	"g.72103150G>C"	""	"{PMID:Schorderet and Escher 2009:19718767}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71810810G>C"	""	"VUS"	""
"0000060083"	"0"	"50"	"15"	"72103835"	"72103835"	"subst"	"0.000303477"	"00223"	"NR2E3_000051"	"g.72103835C>T"	""	"{PMID:Bernal 2008:18294254}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811495C>T"	""	"VUS"	""
"0000060084"	"0"	"50"	"15"	"72103892"	"72103892"	"subst"	"0"	"00223"	"NR2E3_000053"	"g.72103892C>A"	""	"Coppieters 2009"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811552C>A"	""	"VUS"	""
"0000060085"	"0"	"50"	"15"	"72103899"	"72103899"	"subst"	"0.000104217"	"00223"	"NR2E3_000054"	"g.72103899C>T"	""	"{PMID:Bernal 2008:18294254}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811559C>T"	""	"VUS"	""
"0000060086"	"0"	"50"	"15"	"72103909"	"72103909"	"subst"	"0.000327918"	"00223"	"NR2E3_000055"	"g.72103909G>A"	""	"{PMID:Schorderet and Escher 2009:19718767}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811569G>A"	""	"VUS"	""
"0000060087"	"0"	"50"	"15"	"72103934"	"72103934"	"subst"	"0.000791069"	"00223"	"NR2E3_000056"	"g.72103934G>A"	""	"{PMID:Coppieters 2007:17564971}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811594G>A"	""	"VUS"	""
"0000060088"	"0"	"50"	"15"	"72105840"	"72105840"	"subst"	"5.76735E-5"	"00223"	"NR2E3_000057"	"g.72105840G>A"	""	"{PMID:Bernal 2008:18294254}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71813500G>A"	""	"VUS"	""
"0000060089"	"0"	"50"	"15"	"72105855"	"72105855"	"subst"	"2.04901E-5"	"00223"	"NR2E3_000058"	"g.72105855C>T"	""	"{PMID:Schorderet and Escher 2009:19718767}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71813515C>T"	""	"VUS"	""
"0000060090"	"0"	"50"	"15"	"72110385"	"72110389"	"del"	"0"	"00223"	"NR2E3_000060"	"g.72110385_72110389del"	""	"{PMID:Bernal 2008:18294254}"	""	"c.1230+364_368del5"	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71818044_71818048del"	""	"VUS"	""
"0000060091"	"0"	"11"	"15"	"72103776"	"72103776"	"subst"	"0.000503032"	"00223"	"NR2E3_000061"	"g.72103776C>T"	""	""	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811436C>T"	""	"benign"	""
"0000060092"	"0"	"11"	"15"	"72103795"	"72103810"	"del"	"0"	"00223"	"NR2E3_000062"	"g.72103795_72103810del"	""	""	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811455_71811470del"	""	"benign"	""
"0000060093"	"3"	"99"	"15"	"72103835"	"72103835"	"subst"	"0"	"00223"	"NR2E3_000063"	"g.72103835C>A"	""	"{PMID:Khan 2010:20212206}"	""	""	"deleterious variant: no DBD and LBD"	"Germline"	""	""	"0"	""	""	"g.71811495C>A"	""	"pathogenic"	""
"0000060094"	"0"	"11"	"15"	"72103887"	"72103887"	"subst"	"0"	"00223"	"NR2E3_000064"	"g.72103887C>T"	""	"{PMID:Yang 2010:19933183}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811547C>T"	""	"benign"	""
"0000060095"	"0"	"11"	"15"	"72104024"	"72104024"	"subst"	"0"	"00223"	"NR2E3_000065"	"g.72104024G>A"	""	"{PMID:Yang 2010:19933183}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811684G>A"	""	"benign"	""
"0000060096"	"3"	"99"	"15"	"72104108"	"72104108"	"subst"	"1.35599E-5"	"00223"	"NR2E3_000066"	"g.72104108G>A"	""	"{PMID:Rocha-Sousa 2010:20725840}"	""	""	"deleterious variant: no DNA binding"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060097"	"0"	"11"	"15"	"72104217"	"72104217"	"subst"	"0.00555159"	"00223"	"NR2E3_000067"	"g.72104217G>A"	""	"{PMID:Yang 2010:19933183}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71811877G>A"	""	"benign"	""
"0000060098"	"0"	"50"	"15"	"72104297"	"72104297"	"subst"	"1.35527E-5"	"00223"	"NR2E3_000068"	"g.72104297G>A"	""	"{PMID:Yang 2010:19933183}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71811957G>A"	""	"VUS"	""
"0000060099"	"3"	"99"	"15"	"72104828"	"72104829"	"del"	"0"	"00223"	"NR2E3_000069"	"g.72104828_72104829del"	""	"Collin 2011"	""	""	"deleterious variant: truncated LBD"	"Germline"	""	""	"0"	""	""	"g.71812488_71812489del"	""	"pathogenic"	""
"0000060100"	"0"	"50"	"15"	"72105810"	"72105810"	"subst"	"0"	"00223"	"NR2E3_000070"	"g.72105810C>T"	""	"{PMID:Yang 2010:19933183}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71813470C>T"	""	"VUS"	""
"0000060101"	"0"	"50"	"15"	"72105824"	"72105824"	"subst"	"0.000117226"	"00223"	"NR2E3_000071"	"g.72105824C>T"	""	"{PMID:Yang 2010:19933183}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71813484C>T"	""	"VUS"	""
"0000060102"	"0"	"50"	"15"	"72105880"	"72105880"	"subst"	"2.03638E-5"	"00223"	"NR2E3_000072"	"g.72105880C>T"	""	"{PMID:Yang 2010:19933183}"	""	""	"unclassified variant"	"Germline"	""	""	"0"	""	""	"g.71813540C>T"	""	"VUS"	""
"0000060103"	"0"	"11"	"15"	"72105945"	"72105945"	"subst"	"0"	"00223"	"NR2E3_000073"	"g.72105945C>T"	""	"{PMID:Yang 2010:19933183}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000060104"	"0"	"11"	"15"	"72109806"	"72109806"	"subst"	"0"	"00223"	"NR2E3_000074"	"g.72109806C>T"	""	"{PMID:Yang 2010:19933183}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	"g.71817465C>T"	""	"benign"	""
"0000060105"	"0"	"11"	"15"	"72109846"	"72109846"	"subst"	"0"	"00223"	"NR2E3_000075"	"g.72109846G>A"	""	"{PMID:Yang 2010:19933183}"	""	""	"polymorphism"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000060106"	"0"	"50"	"15"	"72109916"	"72109916"	"subst"	"0"	"00223"	"NR2E3_000076"	"g.72109916C>T"	""	"{PMID:Yang 2010:19933183}"	""	"1124C>T (P375L)"	"unclassified variant"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000060107"	"0"	"50"	"15"	"72110078"	"72110078"	"subst"	"0"	"00223"	"NR2E3_000077"	"g.72110078C>T"	""	"{PMID:Yang 2010:19933183}"	""	"1230+53C>T"	"unclassified variant; variant description uncertain, estimated from paper"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000060108"	"3"	"90"	"15"	"72105933"	"72105933"	"del"	"0"	"00039"	"NR2E3_000081"	"g.72105933del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060109"	"1"	"90"	"15"	"72103178"	"72103178"	"subst"	"0"	"00229"	"NR2E3_000082"	"g.72103178G>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	"potentially de novo"	"Germline"	"yes"	""	"0"	""	""	"g.71810838G>A"	""	"pathogenic"	""
"0000060110"	"3"	"99"	"15"	"72103855"	"72103855"	"subst"	"0"	"00223"	"NR2E3_000083"	"g.72103855G>A"	""	"{PMID:Kuniyoshi 2013:23374571}"	""	""	"deleterious variant: no DNA binding"	"Germline"	""	""	"0"	""	""	"g.71811515G>A"	""	"pathogenic"	""
"0000060111"	"1"	"99"	"15"	"72103846"	"72103846"	"subst"	"0"	"00223"	"NR2E3_000084"	"g.72103846C>T"	""	"{PMID:Kuniyoshi 2013:23374571}"	""	""	"deleterious variant: no DNA binding"	"Germline"	""	""	"0"	""	""	"g.71811506C>T"	""	"pathogenic"	""
"0000060112"	"3"	"99"	"15"	"72103900"	"72103905"	"del"	"0"	"00223"	"NR2E3_000085"	"g.72103900_72103905del"	""	"{PMID:Udar 2011:21364904}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811560_71811565del"	""	"pathogenic"	""
"0000060113"	"3"	"99"	"15"	"72106383"	"72106383"	"subst"	"0"	"00223"	"NR2E3_000086"	"g.72106383T>G"	""	"{PMID:Siemiatkowska 2011:22128245}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71814042T>G"	""	"pathogenic"	""
"0000060114"	"2"	"99"	"15"	"72109912"	"72109912"	"subst"	"0"	"00223"	"NR2E3_000087"	"g.72109912C>T"	""	"{PMID:Cima 2012:22711506}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	"g.71817571C>T"	""	"pathogenic"	""
"0000060115"	"3"	"77"	"15"	"72104309"	"72104309"	"subst"	"0"	"00223"	"NR2E3_000088"	"g.72104309C>T"	""	"{PMID:Bocquet 2013:24339724}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811969C>T"	""	"likely pathogenic (recessive)"	""
"0000060116"	"2"	"99"	"15"	"72109904"	"72109904"	"subst"	"0"	"00223"	"NR2E3_000090"	"g.72109904T>G"	""	"{PMID:Ripamonti 2014:24425859}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060117"	"2"	"99"	"15"	"72104318"	"72104318"	"subst"	"6.60284E-6"	"00223"	"NR2E3_000122"	"g.72104318C>T"	""	"{PMID:Cassiman 2012:23039133}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060118"	"3"	"99"	"15"	"72104318"	"72104318"	"subst"	"6.60284E-6"	"00223"	"NR2E3_000122"	"g.72104318C>T"	""	"{PMID:Cassiman 2012:23039133}"	""	""	"deleterious variant: no LBD"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000060119"	"2"	"99"	"15"	"72103906"	"72103906"	"subst"	"1.77734E-5"	"00223"	"NR2E3_000092"	"g.72103906A>G"	""	"{PMID:Park 2013:23604511}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811566A>G"	""	"pathogenic"	""
"0000060120"	"3"	"99"	"15"	"72103847"	"72103848"	"delins"	"0"	"00223"	"NR2E3_000093"	"g.72103847_72103848delinsAGTGTGCCTCCAGTGCCTCGCTCCA"	""	"{PMID:Kannabiran 2012:22605927}"	""	""	"deleterious variant"	"Germline"	""	""	"0"	""	""	"g.71811507_71811508delinsAGTGTGCCTCCAGTGCCTCGCTCCA"	""	"pathogenic"	""
"0000079505"	"0"	"90"	"15"	"67629083"	"72199082"	"del"	"0"	"00006"	"MAP2K5_000011"	"g.67629083_72199082del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000162791"	"3"	"90"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"01769"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811591G>A"	""	"pathogenic"	""
"0000247308"	"0"	"50"	"15"	"72103874"	"72103874"	"subst"	"0.000153111"	"02330"	"NR2E3_000097"	"g.72103874A>G"	""	""	""	"NR2E3(NM_014249.4):c.170A>G (p.(Lys57Arg)), NR2E3(NM_016346.3):c.170A>G (p.K57R), NR2E3(NM_016346.4):c.170A>G (p.K57R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811534A>G"	""	"VUS"	""
"0000247350"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"02330"	"NR2E3_000001"	"g.72103821A>C"	""	""	""	"NR2E3(NM_016346.3):c.119-2A>C, NR2E3(NM_016346.4):c.119-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000254749"	"0"	"30"	"15"	"72103108"	"72103108"	"subst"	"0"	"01943"	"NR2E3_000108"	"g.72103108A>G"	""	""	""	"NR2E3(NM_016346.3):c.25A>G (p.M9V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71810768A>G"	""	"likely benign"	""
"0000255819"	"0"	"50"	"15"	"72103874"	"72103874"	"subst"	"0.000153111"	"01943"	"NR2E3_000097"	"g.72103874A>G"	""	""	""	"NR2E3(NM_014249.4):c.170A>G (p.(Lys57Arg)), NR2E3(NM_016346.3):c.170A>G (p.K57R), NR2E3(NM_016346.4):c.170A>G (p.K57R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811534A>G"	""	"VUS"	""
"0000293243"	"0"	"10"	"15"	"72103427"	"72103427"	"subst"	"0"	"02330"	"NR2E3_000096"	"g.72103427T>C"	""	""	""	"NR2E3(NM_016346.4):c.118+226T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811087T>C"	""	"benign"	""
"0000293244"	"0"	"10"	"15"	"72104193"	"72104193"	"subst"	"0.00052987"	"02330"	"NR2E3_000098"	"g.72104193G>A"	""	""	""	"NR2E3(NM_016346.4):c.333G>A (p.A111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811853G>A"	""	"benign"	""
"0000293245"	"0"	"10"	"15"	"72104216"	"72104216"	"subst"	"0.000605235"	"02330"	"NR2E3_000099"	"g.72104216C>T"	""	""	""	"NR2E3(NM_016346.4):c.349+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811876C>T"	""	"benign"	""
"0000293246"	"0"	"10"	"15"	"72104317"	"72104317"	"subst"	"0.000119218"	"02330"	"NR2E3_000100"	"g.72104317G>A"	""	""	""	"NR2E3(NM_016346.3):c.372G>A (p.P124=), NR2E3(NM_016346.4):c.372G>A (p.P124=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811977G>A"	""	"benign"	""
"0000293247"	"0"	"10"	"15"	"72105824"	"72105824"	"subst"	"0.000117226"	"02330"	"NR2E3_000071"	"g.72105824C>T"	""	""	""	"NR2E3(NM_016346.4):c.843C>T (p.P281=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71813484C>T"	""	"benign"	""
"0000293248"	"0"	"30"	"15"	"72105881"	"72105881"	"subst"	"0.002281"	"02330"	"NR2E3_000102"	"g.72105881G>A"	""	""	""	"NR2E3(NM_016346.4):c.900G>A (p.T300=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71813541G>A"	""	"likely benign"	""
"0000293249"	"0"	"50"	"15"	"72105883"	"72105883"	"subst"	"9.36497E-5"	"02330"	"NR2E3_000103"	"g.72105883G>A"	""	""	""	"NR2E3(NM_014249.4):c.902G>A (p.(Arg301His)), NR2E3(NM_016346.4):c.902G>A (p.R301H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71813543G>A"	""	"VUS"	""
"0000293250"	"0"	"10"	"15"	"72105918"	"72105918"	"subst"	"5.21126E-6"	"02330"	"NR2E3_000104"	"g.72105918T>C"	""	""	""	"NR2E3(NM_016346.4):c.937T>C (p.L313=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71813578T>C"	""	"benign"	""
"0000304516"	"0"	"10"	"15"	"72103957"	"72103957"	"subst"	"0.000910154"	"01943"	"NR2E3_000038"	"g.72103957C>T"	""	""	""	"NR2E3(NM_016346.3):c.245+8C>T, NR2E3(NM_016346.4):c.245+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811617C>T"	""	"benign"	""
"0000304517"	"0"	"30"	"15"	"72104400"	"72104400"	"subst"	"0.000377229"	"01943"	"NR2E3_000101"	"g.72104400C>T"	""	""	""	"NR2E3(NM_016346.3):c.455C>T (p.P152L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71812060C>T"	""	"likely benign"	""
"0000304518"	"0"	"30"	"15"	"72103152"	"72103152"	"subst"	"2.83907E-5"	"01943"	"NR2E3_000094"	"g.72103152C>T"	""	""	""	"NR2E3(NM_016346.3):c.69C>T (p.A23=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71810812C>T"	""	"likely benign"	""
"0000304519"	"0"	"30"	"15"	"72103177"	"72103177"	"subst"	"1.22169E-5"	"01943"	"NR2E3_000095"	"g.72103177T>G"	""	""	""	"NR2E3(NM_016346.3):c.94T>G (p.W32G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71810837T>G"	""	"likely benign"	""
"0000304520"	"0"	"50"	"15"	"72105935"	"72105935"	"subst"	"4.4839E-5"	"01943"	"NR2E3_000105"	"g.72105935C>T"	""	""	""	"NR2E3(NM_016346.3):c.953C>T (p.T318M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71813594C>T"	""	"VUS"	""
"0000342781"	"0"	"50"	"15"	"72109945"	"72109945"	"subst"	"4.06114E-6"	"02327"	"NR2E3_000107"	"g.72109945C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71817604C>T"	""	"VUS"	""
"0000344778"	"0"	"50"	"15"	"72106395"	"72106395"	"subst"	"0"	"02327"	"NR2E3_000106"	"g.72106395A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71814054A>G"	""	"VUS"	""
"0000349136"	"0"	"50"	"15"	"72103906"	"72103906"	"subst"	"1.77734E-5"	"02327"	"NR2E3_000092"	"g.72103906A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811566A>G"	""	"VUS"	""
"0000350767"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"02327"	"NR2E3_000001"	"g.72103821A>C"	""	""	""	"NR2E3(NM_016346.3):c.119-2A>C, NR2E3(NM_016346.4):c.119-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000358294"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01243"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000358295"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01243"	"NR2E3_000001"	"g.72103821A>C"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000358296"	"1"	"90"	"15"	"72103898"	"72103906"	"del"	"0"	"01243"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000358297"	"3"	"90"	"15"	"72103898"	"72103906"	"del"	"0"	"01243"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000358298"	"0"	"90"	"15"	"72104852"	"72104852"	"subst"	"0"	"01243"	"NR2E3_000030"	"g.72104852G>C"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71812512G>C"	""	"pathogenic"	""
"0000358299"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01243"	"NR2E3_000011"	"g.72105913G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000358300"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01243"	"NR2E3_000011"	"g.72105913G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000358446"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01243"	"NR2E3_000011"	"g.72105913G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000358447"	"2"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01243"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic (recessive)"	""
"0000358448"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01243"	"NR2E3_000011"	"g.72105913G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000358449"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01243"	"NR2E3_000011"	"g.72105913G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000441239"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00006"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Lionel 2018:28771251}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic (recessive)"	""
"0000477082"	"0"	"50"	"15"	"72103835"	"72103835"	"subst"	"0.000303477"	"02591"	"NR2E3_000051"	"g.72103835C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs202098481"	"0"	""	""	"g.71811495C>T"	""	"VUS"	""
"0000477083"	"0"	"50"	"15"	"72103847"	"72103847"	"subst"	"2.91947E-5"	"02591"	"NR2E3_000110"	"g.72103847G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs372156526"	"0"	""	""	"g.71811507G>A"	""	"VUS"	""
"0000477084"	"0"	"90"	"15"	"72103855"	"72103855"	"subst"	"0"	"02591"	"NR2E3_000083"	"g.72103855G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs544807110"	"0"	""	""	"g.71811515G>A"	""	"pathogenic"	""
"0000477085"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"02591"	"NR2E3_000024"	"g.72103870G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs121912631"	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000477086"	"0"	"90"	"15"	"72103930"	"72103930"	"subst"	"3.09891E-5"	"02591"	"NR2E3_000004"	"g.72103930C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs104894492"	"0"	""	""	"g.71811590C>T"	""	"pathogenic"	""
"0000477087"	"3"	"50"	"15"	"72104149"	"72104149"	"subst"	"0"	"02591"	"NR2E3_000111"	"g.72104149C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs775720634"	"0"	""	""	"g.71811809C>T"	""	"VUS"	""
"0000477088"	"3"	"90"	"15"	"72104171"	"72104171"	"subst"	"0"	"02591"	"NR2E3_000026"	"g.72104171G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs766096417"	"0"	""	""	"g.71811831G>A"	""	"pathogenic"	""
"0000477089"	"0"	"50"	"15"	"72104306"	"72104306"	"subst"	"0.00429815"	"02591"	"NR2E3_000032"	"g.72104306G>A"	"78/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs146403122"	"0"	""	""	"g.71811966G>A"	""	"VUS"	""
"0000477090"	"0"	"50"	"15"	"72104355"	"72104355"	"subst"	"5.80825E-5"	"02591"	"NR2E3_000112"	"g.72104355C>T"	"9/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs767828150"	"0"	""	""	"g.71812015C>T"	""	"VUS"	""
"0000477091"	"0"	"10"	"15"	"72104364"	"72104364"	"subst"	"0.0386683"	"02591"	"NR2E3_000041"	"g.72104364A>G"	"465/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1805020"	"0"	""	""	"g.71812024A>G"	""	"benign"	""
"0000477092"	"0"	"50"	"15"	"72104388"	"72104388"	"subst"	"0"	"02591"	"NR2E3_000113"	"g.72104388C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71812048C>T"	""	"VUS"	""
"0000477093"	"0"	"10"	"15"	"72104433"	"72104433"	"subst"	"0.0394348"	"02591"	"NR2E3_000042"	"g.72104433T>C"	"467/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1805021"	"0"	""	""	"g.71812093T>C"	""	"benign"	""
"0000477094"	"0"	"50"	"15"	"72104434"	"72104434"	"subst"	"6.43898E-5"	"02591"	"NR2E3_000114"	"g.72104434G>A"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs534156309"	"0"	""	""	"g.71812094G>A"	""	"VUS"	""
"0000477095"	"0"	"50"	"15"	"72105840"	"72105840"	"subst"	"5.76735E-5"	"02591"	"NR2E3_000057"	"g.72105840G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs764901119"	"0"	""	""	"g.71813500G>A"	""	"VUS"	""
"0000477096"	"0"	"50"	"15"	"72105885"	"72105885"	"subst"	"0.00374067"	"02591"	"NR2E3_000048"	"g.72105885G>A"	"18/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1805025"	"0"	""	""	"g.71813545G>A"	""	"VUS"	""
"0000477097"	"0"	"90"	"15"	"72106406"	"72106406"	"subst"	"0"	"02591"	"NR2E3_000013"	"g.72106406C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000477098"	"0"	"50"	"15"	"72106440"	"72106440"	"subst"	"0.000182698"	"02591"	"NR2E3_000116"	"g.72106440A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs537337423"	"0"	""	""	""	""	"VUS"	""
"0000477588"	"3"	"50"	"15"	"72104306"	"72104306"	"subst"	"0.00429815"	"02591"	"NR2E3_000032"	"g.72104306G>A"	"4/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs146403122"	"0"	""	""	"g.71811966G>A"	""	"VUS"	""
"0000477589"	"3"	"10"	"15"	"72104364"	"72104364"	"subst"	"0.0386683"	"02591"	"NR2E3_000041"	"g.72104364A>G"	"89/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1805020"	"0"	""	""	"g.71812024A>G"	""	"benign"	""
"0000477590"	"3"	"10"	"15"	"72104433"	"72104433"	"subst"	"0.0394348"	"02591"	"NR2E3_000042"	"g.72104433T>C"	"88/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1805021"	"0"	""	""	"g.71812093T>C"	""	"benign"	""
"0000555275"	"0"	"90"	"15"	"72103178"	"72103178"	"subst"	"0"	"02327"	"NR2E3_000082"	"g.72103178G>A"	""	""	""	"NR2E3(NM_016346.4):c.95G>A (p.W32*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71810838G>A"	""	"pathogenic"	""
"0000555276"	"0"	"90"	"15"	"72103766"	"72103870"	"del"	"0"	"02327"	"NR2E3_000117"	"g.72103766_72103870del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811426_71811530del"	""	"pathogenic"	""
"0000555277"	"0"	"50"	"15"	"72103825"	"72103825"	"subst"	"5.0735E-5"	"02330"	"NR2E3_000118"	"g.72103825G>A"	""	""	""	"NR2E3(NM_016346.4):c.121G>A (p.V41M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811485G>A"	""	"VUS"	""
"0000555278"	"0"	"50"	"15"	"72103849"	"72103849"	"subst"	"0"	"02327"	"NR2E3_000003"	"g.72103849G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811509G>A"	""	"VUS"	""
"0000555279"	"0"	"90"	"15"	"72103855"	"72103855"	"subst"	"0"	"02327"	"NR2E3_000083"	"g.72103855G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811515G>A"	""	"pathogenic"	""
"0000555280"	"0"	"50"	"15"	"72103859"	"72103859"	"subst"	"0"	"02327"	"NR2E3_000119"	"g.72103859A>G"	""	""	""	"NR2E3(NM_016346.4):c.155A>G (p.D52G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811519A>G"	""	"VUS"	""
"0000555281"	"0"	"50"	"15"	"72103909"	"72103909"	"subst"	"0.000327918"	"01943"	"NR2E3_000055"	"g.72103909G>A"	""	""	""	"NR2E3(NM_016346.3):c.205G>A (p.G69S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811569G>A"	""	"VUS"	""
"0000555282"	"0"	"90"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"02330"	"NR2E3_000005"	"g.72103931G>A"	""	""	""	"NR2E3(NM_016346.3):c.227G>A (p.R76Q), NR2E3(NM_016346.4):c.227G>A (p.R76Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811591G>A"	""	"pathogenic"	""
"0000555283"	"0"	"90"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"02327"	"NR2E3_000005"	"g.72103931G>A"	""	""	""	"NR2E3(NM_016346.3):c.227G>A (p.R76Q), NR2E3(NM_016346.4):c.227G>A (p.R76Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811591G>A"	""	"pathogenic"	""
"0000555284"	"0"	"50"	"15"	"72103934"	"72103934"	"subst"	"0.000791069"	"02330"	"NR2E3_000056"	"g.72103934G>A"	""	""	""	"NR2E3(NM_016346.3):c.230G>A (p.R77Q), NR2E3(NM_016346.4):c.230G>A (p.R77Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811594G>A"	""	"VUS"	""
"0000555285"	"0"	"30"	"15"	"72103934"	"72103934"	"subst"	"0.000791069"	"01943"	"NR2E3_000056"	"g.72103934G>A"	""	""	""	"NR2E3(NM_016346.3):c.230G>A (p.R77Q), NR2E3(NM_016346.4):c.230G>A (p.R77Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811594G>A"	""	"likely benign"	""
"0000555287"	"0"	"50"	"15"	"72104194"	"72104194"	"subst"	"0"	"02330"	"NR2E3_000121"	"g.72104194G>A"	""	""	""	"NR2E3(NM_016346.4):c.334G>A (p.G112R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811854G>A"	""	"VUS"	""
"0000555288"	"0"	"50"	"15"	"72104297"	"72104297"	"subst"	"1.35527E-5"	"02327"	"NR2E3_000068"	"g.72104297G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811957G>A"	""	"VUS"	""
"0000555289"	"0"	"30"	"15"	"72104317"	"72104317"	"subst"	"0.000119218"	"01943"	"NR2E3_000100"	"g.72104317G>A"	""	""	""	"NR2E3(NM_016346.3):c.372G>A (p.P124=), NR2E3(NM_016346.4):c.372G>A (p.P124=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811977G>A"	""	"likely benign"	""
"0000555290"	"0"	"90"	"15"	"72104318"	"72104318"	"subst"	"6.60284E-6"	"02327"	"NR2E3_000122"	"g.72104318C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811978C>T"	""	"pathogenic"	""
"0000555291"	"0"	"90"	"15"	"72104385"	"72104419"	"del"	"0"	"02327"	"NR2E3_000123"	"g.72104385_72104419del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812045_71812079del"	""	"pathogenic"	""
"0000555292"	"0"	"50"	"15"	"72104474"	"72104474"	"subst"	"0"	"02330"	"NR2E3_000124"	"g.72104474C>A"	""	""	""	"NR2E3(NM_016346.4):c.529C>A (p.L177I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812134C>A"	""	"VUS"	""
"0000555293"	"0"	"70"	"15"	"72104518"	"72104518"	"subst"	"0"	"02327"	"NR2E3_000125"	"g.72104518T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812178T>A"	""	"likely pathogenic"	""
"0000555294"	"0"	"10"	"15"	"72104798"	"72104798"	"subst"	"0.00173416"	"01943"	"NR2E3_000044"	"g.72104798G>A"	""	""	""	"NR2E3(NM_016346.3):c.694G>A (p.V232I), NR2E3(NM_016346.4):c.694G>A (p.V232I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812458G>A"	""	"benign"	""
"0000555295"	"0"	"90"	"15"	"72104828"	"72104829"	"del"	"0"	"02327"	"NR2E3_000126"	"g.72104828_72104829del"	""	""	""	"NR2E3(NM_016346.4):c.724_725delTC (p.S242Qfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812488_71812489del"	""	"pathogenic"	""
"0000555296"	"0"	"70"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"02327"	"NR2E3_000018"	"g.72105748C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71813408C>A"	""	"likely pathogenic"	""
"0000555297"	"0"	"50"	"15"	"72105900"	"72105900"	"subst"	"5.30985E-5"	"02330"	"NR2E3_000127"	"g.72105900A>C"	""	""	""	"NR2E3(NM_016346.4):c.919A>C (p.I307L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71813560A>C"	""	"VUS"	""
"0000555298"	"0"	"70"	"15"	"72105907"	"72105907"	"subst"	"0"	"02330"	"NR2E3_000128"	"g.72105907G>T"	""	""	""	"NR2E3(NM_016346.4):c.926G>T (p.R309L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71813567G>T"	""	"likely pathogenic"	""
"0000555299"	"0"	"50"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"01943"	"NR2E3_000011"	"g.72105913G>A"	""	""	""	"NR2E3(NM_016346.3):c.932G>A (p.R311Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71813573G>A"	""	"VUS"	""
"0000555300"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"02327"	"NR2E3_000011"	"g.72105913G>A"	""	""	""	"NR2E3(NM_016346.3):c.932G>A (p.R311Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000555301"	"0"	"10"	"15"	"72105933"	"72105933"	"del"	"0"	"02325"	"NR2E3_000129"	"g.72105933del"	""	""	""	"NR2E3(NM_016346.4):c.947delC (p.D316Afs*8), NR2E3(NM_016346.4):c.951delC (p.T318Rfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000555302"	"0"	"50"	"15"	"72105976"	"72105976"	"subst"	"0"	"02327"	"NR2E3_000130"	"g.72105976G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71813635G>A"	""	"VUS"	""
"0000555303"	"0"	"50"	"15"	"72106356"	"72106356"	"subst"	"9.9881E-5"	"01943"	"NR2E3_000131"	"g.72106356C>T"	""	""	""	"NR2E3(NM_014249.4):c.998C>T (p.(Thr333Met)), NR2E3(NM_016346.3):c.998C>T (p.T333M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71814015C>T"	""	"VUS"	""
"0000555304"	"0"	"10"	"15"	"72106363"	"72106363"	"subst"	"0.000831396"	"02330"	"NR2E3_000132"	"g.72106363C>A"	""	""	""	"NR2E3(NM_016346.4):c.1005C>A (p.G335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71814022C>A"	""	"benign"	""
"0000555305"	"0"	"50"	"15"	"72106416"	"72106416"	"subst"	"0"	"02327"	"NR2E3_000133"	"g.72106416T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71814075T>G"	""	"VUS"	""
"0000555306"	"0"	"50"	"15"	"72106453"	"72106453"	"subst"	"8.2883E-6"	"02327"	"NR2E3_000134"	"g.72106453C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71814112C>G"	""	"VUS"	""
"0000555307"	"0"	"70"	"15"	"72109904"	"72109904"	"subst"	"0"	"02327"	"MYO9A_000001"	"g.72109904T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71817563T>G"	""	"likely pathogenic"	""
"0000555308"	"0"	"50"	"15"	"72109919"	"72109919"	"subst"	"0"	"02330"	"MYO9A_000002"	"g.72109919C>G"	""	""	""	"NR2E3(NM_014249.4):c.1127C>G (p.P376R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71817578C>G"	""	"VUS"	""
"0000555309"	"0"	"90"	"15"	"72109963"	"72109964"	"del"	"0"	"02327"	"MYO9A_000003"	"g.72109963_72109964del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71817622_71817623del"	""	"pathogenic"	""
"0000555310"	"0"	"50"	"15"	"72109978"	"72109978"	"subst"	"7.3103E-5"	"02327"	"MYO9A_000004"	"g.72109978G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71817637G>A"	""	"VUS"	""
"0000555311"	"0"	"50"	"15"	"72109990"	"72109990"	"subst"	"4.06279E-5"	"02330"	"MYO9A_000005"	"g.72109990A>G"	""	""	""	"NR2E3(NM_014249.4):c.1198A>G (p.M400V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71817649A>G"	""	"VUS"	""
"0000615484"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01943"	"NR2E3_000001"	"g.72103821A>C"	""	""	""	"NR2E3(NM_016346.3):c.119-2A>C, NR2E3(NM_016346.4):c.119-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000615485"	"0"	"50"	"15"	"72104149"	"72104149"	"subst"	"0"	"02327"	"NR2E3_000111"	"g.72104149C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811809C>T"	""	"VUS"	""
"0000615486"	"0"	"10"	"15"	"72104798"	"72104798"	"subst"	"0.00173416"	"02330"	"NR2E3_000044"	"g.72104798G>A"	""	""	""	"NR2E3(NM_016346.3):c.694G>A (p.V232I), NR2E3(NM_016346.4):c.694G>A (p.V232I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812458G>A"	""	"benign"	""
"0000615487"	"0"	"50"	"15"	"72104847"	"72104847"	"subst"	"0"	"02327"	"NR2E3_000136"	"g.72104847A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71812507A>T"	""	"VUS"	""
"0000623288"	"0"	"30"	"15"	"72103958"	"72103958"	"subst"	"0.000111752"	"02330"	"NR2E3_000135"	"g.72103958G>A"	""	""	""	"NR2E3(NM_016346.4):c.245+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.71811618G>A"	""	"likely benign"	""
"0000649147"	"1"	"70"	"15"	"72104318"	"72104318"	"subst"	"6.60284E-6"	"03575"	"NR2E3_000122"	"g.72104318C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs786205493}"	"Germline"	""	"rs786205493"	"0"	""	""	"g.71811978C>T"	""	"likely pathogenic"	""
"0000659525"	"0"	"90"	"15"	"72104351"	"72104351"	"subst"	"0"	"01807"	"NR2E3_000137"	"g.72104351G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.71812011G>T"	""	"pathogenic"	""
"0000664770"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01848"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic (recessive)"	""
"0000664771"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01848"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic (recessive)"	""
"0000680267"	"0"	"90"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"01943"	"NR2E3_000005"	"g.72103931G>A"	""	""	""	"NR2E3(NM_016346.3):c.227G>A (p.R76Q), NR2E3(NM_016346.4):c.227G>A (p.R76Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000683267"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01164"	"NR2E3_000001"	"g.72103821A>C"	""	""	""	""	"ACMG grading: PVS1,PS3,PS4,PM2,PM3,PP1"	"Germline"	""	"rs2723341"	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000683268"	"0"	"70"	"15"	"72103855"	"72103855"	"subst"	"0"	"01164"	"NR2E3_000083"	"g.72103855G>A"	""	"Kuniyoshi et al. 2013. Ophthalmology 2: 431; Kuniyoshi et al. 2016. Jpn. J. Ophthalmol 6: 467"	""	""	"ACMG grading: PM2,PM3,PP1,PP3"	"Germline"	""	"rs544807110"	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000684793"	"0"	"30"	"15"	"72104306"	"72104306"	"subst"	"0.00429815"	"00004"	"NR2E3_000032"	"g.72104306G>A"	"frequency 0.041"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.71811966G>A"	""	"likely benign"	""
"0000685302"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00004"	"NR2E3_000001"	"g.72103821A>C"	"7/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685303"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00004"	"NR2E3_000001"	"g.72103821A>C"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685304"	"0"	"90"	"15"	"72103898"	"72103906"	"del"	"0"	"00004"	"NR2E3_000016"	"g.72103898_72103906del"	"4/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685305"	"1"	"70"	"15"	"72104171"	"72104171"	"subst"	"0"	"00004"	"NR2E3_000026"	"g.72104171G>A"	"1/2420 IRD families"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685306"	"0"	"70"	"15"	"72104297"	"72104297"	"subst"	"1.35527E-5"	"00004"	"NR2E3_000068"	"g.72104297G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685308"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00004"	"NR2E3_000011"	"g.72105913G>A"	"5/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685309"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00004"	"NR2E3_000011"	"g.72105913G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685310"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00004"	"NR2E3_000011"	"g.72105913G>A"	"5/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685311"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00004"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685312"	"0"	"90"	"15"	"72106395"	"72106395"	"subst"	"0"	"00004"	"NR2E3_000138"	"g.72106395G>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685313"	"0"	"90"	"15"	"72106395"	"72106395"	"subst"	"0"	"00004"	"NR2E3_000138"	"g.72106395G>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685835"	"1"	"50"	"15"	"72104369"	"72104369"	"subst"	"0"	"00006"	"NR2E3_000139"	"g.72104369C>T"	""	"{PMID:Jinda 2014:24618324}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000686045"	"2"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00006"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Kimchi 2018:29276052}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000691843"	"0"	"50"	"15"	"72103859"	"72103859"	"subst"	"0"	"02330"	"NR2E3_000119"	"g.72103859A>G"	""	""	""	"NR2E3(NM_016346.4):c.155A>G (p.D52G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691844"	"0"	"50"	"15"	"72105781"	"72105781"	"subst"	"0"	"01943"	"NR2E3_000140"	"g.72105781A>G"	""	""	""	"NR2E3(NM_014249.3):c.800A>G (p.Q267R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000710220"	"1"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00006"	"NR2E3_000024"	"g.72103870G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000710303"	"1"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00006"	"NR2E3_000024"	"g.72103870G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000713274"	"0"	"90"	"15"	"72104171"	"72104171"	"subst"	"0"	"00000"	"NR2E3_000026"	"g.72104171G>A"	""	"{PMID:Carss 2017:28041643}"	""	"15:72104171G>A ENST00000617575.4:c.311G>A (Arg104Gln)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713587"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Carss 2017:28041643}"	""	"15:72103821A>C ENST00000617575.4:c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713677"	"3"	"90"	"15"	"72104165"	"72104165"	"subst"	"0"	"00000"	"NR2E3_000141"	"g.72104165C>A"	""	"{PMID:Carss 2017:28041643}"	""	"15:72104165C>A ENST00000617575.4:c.305C>A (Ala102Asp)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713692"	"0"	"90"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00000"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Carss 2017:28041643}"	""	"15:72105748C>A ENST00000617575.4:c.767C>A (Ala256Glu)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000725278"	"0"	"30"	"15"	"72103839"	"72103839"	"subst"	"1.20795E-5"	"01943"	"NR2E3_000142"	"g.72103839C>A"	""	""	""	"NR2E3(NM_016346.3):c.135C>A (p.L45=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725279"	"0"	"50"	"15"	"72110013"	"72110013"	"subst"	"4.0821E-6"	"01943"	"MYO9A_000014"	"g.72110013G>A"	""	""	""	"NR2E3(NM_014249.3):c.1221G>A (p.M407I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729756"	"0"	"70"	"15"	"72103927"	"72103927"	"subst"	"5.31463E-5"	"00000"	"NR2E3_000143"	"g.72103927G>A"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	"rs750284532"	"0"	""	""	"g.71811587G>A"	""	"likely pathogenic"	""
"0000730996"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs2723341"	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic (recessive)"	""
"0000730997"	"1"	"70"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00000"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs377257254"	"0"	""	""	"g.71813408C>A"	""	"likely pathogenic (recessive)"	""
"0000730998"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs121912631"	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic (dominant)"	""
"0000731058"	"2"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs28937873"	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic (recessive)"	""
"0000731061"	"2"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs2723341"	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic (recessive)"	""
"0000731549"	"1"	"90"	"15"	"72104297"	"72104297"	"subst"	"1.35527E-5"	"00000"	"NR2E3_000068"	"g.72104297G>A"	""	"{PMID:Comander 2017:28981474}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811957G>A"	""	"pathogenic"	""
"0000732441"	"1"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0000733085"	"1"	"70"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00000"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Stone 2017:28559085}"	""	"481delA"	""	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"likely pathogenic"	""
"0000733145"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000733229"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000733230"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000733231"	"1"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000733544"	"2"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000733590"	"2"	"70"	"15"	"72104165"	"72104165"	"subst"	"0"	"00000"	"NR2E3_000141"	"g.72104165C>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811825C>A"	""	"likely pathogenic"	""
"0000733647"	"2"	"70"	"15"	"72103930"	"72103930"	"subst"	"3.09891E-5"	"00000"	"NR2E3_000004"	"g.72103930C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811590C>T"	""	"likely pathogenic"	""
"0000733648"	"2"	"70"	"15"	"72103923"	"72103923"	"subst"	"0"	"00000"	"NR2E3_000144"	"g.72103923G>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811583G>C"	""	"likely pathogenic"	""
"0000734411"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Habibi 2016:27874104}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic (recessive)"	""
"0000734685"	"0"	"50"	"15"	"72104369"	"72104369"	"subst"	"0"	"00000"	"NR2E3_000139"	"g.72104369C>T"	""	"{PMID:Jinda 2017:28453600}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71812029C>T"	""	"VUS"	""
"0000735632"	"0"	"90"	"15"	"72109963"	"72109964"	"del"	"0"	"00000"	"MYO9A_000003"	"g.72109963_72109964del"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71817622_71817623del"	""	"pathogenic"	""
"0000735633"	"1"	"90"	"15"	"72104828"	"72104829"	"del"	"0"	"00000"	"NR2E3_000069"	"g.72104828_72104829del"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71812488_71812489del"	""	"pathogenic"	""
"0000735747"	"0"	"90"	"15"	"72109963"	"72109964"	"del"	"0"	"00000"	"MYO9A_000003"	"g.72109963_72109964del"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71817622_71817623del"	""	"pathogenic"	""
"0000735748"	"2"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	""
"0000735993"	"1"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"02485"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000736349"	"1"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000736350"	"1"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000759579"	"3"	"90"	"15"	"72104188"	"72104188"	"dup"	"0"	"00000"	"NR2E3_000145"	"g.72104188dup"	""	"{PMID:Carrigan 2016:27624628}"	""	"NM_016346.3:c.328dupC"	""	"Germline"	""	""	"0"	""	""	"g.71811848dup"	""	"pathogenic"	""
"0000760245"	"0"	"50"	"15"	"72103895"	"72103895"	"subst"	"0"	"00000"	"NR2E3_000146"	"g.72103895G>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811555G>T"	""	"VUS"	""
"0000760468"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000760648"	"1"	"90"	"15"	"72103898"	"72103906"	"del"	"0"	"00000"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811558_71811566del"	""	"pathogenic"	""
"0000760670"	"2"	"90"	"15"	"72105949"	"72105949"	"dup"	"0"	"00000"	"NR2E3_000147"	"g.72105949dup"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	"967dupA"	""	"Germline"	""	""	"0"	""	""	"g.71813608dup"	""	"pathogenic"	""
"0000764877"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic (dominant)"	""
"0000765250"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Neuhaus 2017:28944237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000765563"	"1"	"90"	"15"	"72106351"	"72106351"	"subst"	"0"	"00000"	"NR2E3_000149"	"g.72106351A>C"	""	"{PMID:Ge 2015:26667666}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71814010A>C"	""	"pathogenic"	""
"0000765600"	"2"	"90"	"15"	"72103930"	"72103930"	"subst"	"3.09891E-5"	"00000"	"NR2E3_000004"	"g.72103930C>T"	""	"{PMID:Ge 2015:26667666}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811590C>T"	""	"pathogenic"	""
"0000765767"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000765770"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000765774"	"0"	"70"	"15"	"72105907"	"72105907"	"subst"	"0"	"00000"	"NR2E3_000128"	"g.72105907G>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813567G>T"	""	"likely pathogenic"	""
"0000765777"	"0"	"70"	"15"	"72104750"	"72104750"	"subst"	"4.06121E-5"	"00000"	"NR2E3_000148"	"g.72104750G>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71812410G>A"	""	"likely pathogenic"	""
"0000765795"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000765883"	"0"	"70"	"15"	"72104318"	"72104318"	"subst"	"6.60284E-6"	"00000"	"NR2E3_000122"	"g.72104318C>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811978C>T"	""	"likely pathogenic"	""
"0000766053"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"01243"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic (recessive)"	""
"0000766054"	"1"	"90"	"15"	"72103898"	"72103906"	"del"	"0"	"00004"	"NR2E3_000016"	"g.72103898_72103906del"	"4/2420 IRD families"	"{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}"	""	"194–202del9bp"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000766055"	"2"	"90"	"15"	"72104852"	"72104852"	"subst"	"0"	"00006"	"NR2E3_000030"	"g.72104852G>C"	""	"{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}"	""	"IVS5+1G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000784187"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000150"	"g.72103870G>C"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811530G>C"	""	"pathogenic (dominant)"	""
"0000784188"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000150"	"g.72103870G>C"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811530G>C"	""	"pathogenic (dominant)"	""
"0000785405"	"1"	"90"	"15"	"72103766"	"72103870"	"del"	"0"	"00000"	"NR2E3_000117"	"g.72103766_72103870del"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811426_71811530del"	""	"pathogenic (recessive)"	""
"0000785413"	"2"	"90"	"15"	"72106453"	"72106453"	"subst"	"8.2883E-6"	"00000"	"NR2E3_000023"	"g.72106453C>G"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71814112C>G"	""	"pathogenic (recessive)"	""
"0000786308"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	""
"0000787665"	"3"	"70"	"15"	"72104150"	"72104150"	"subst"	"0"	"00000"	"NR2E3_000007"	"g.72104150G>A"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811810G>A"	""	"likely pathogenic"	""
"0000788141"	"3"	"70"	"15"	"72104309"	"72104309"	"subst"	"0"	"00000"	"NR2E3_000088"	"g.72104309C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811969C>T"	""	"likely pathogenic"	""
"0000788425"	"0"	"50"	"15"	"72104355"	"72104355"	"subst"	"5.80825E-5"	"00000"	"NR2E3_000112"	"g.72104355C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"C410T"	""	"Germline"	""	""	"0"	""	""	"g.71812015C>T"	""	"VUS"	""
"0000790434"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000790478"	"1"	"50"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"VUS"	""
"0000790490"	"0"	"50"	"15"	"72103835"	"72103835"	"subst"	"0.000303477"	"00000"	"NR2E3_000051"	"g.72103835C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs202098481"	"0"	""	""	"g.71811495C>T"	""	"VUS"	""
"0000790541"	"1"	"50"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00000"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813408C>A"	""	"VUS"	""
"0000791167"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	"0,00037 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	"ACMG"
"0000791218"	"3"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	"0,0016 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	"ACMG"
"0000791434"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000791435"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000791436"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000791437"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000791438"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000791439"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000791440"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	"7/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000792209"	"3"	"90"	"15"	"72106382"	"72106382"	"subst"	"0"	"00000"	"NR2E3_000086"	"g.72106382T>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1025T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792210"	"3"	"90"	"15"	"72106382"	"72106382"	"subst"	"0"	"00000"	"NR2E3_000086"	"g.72106382T>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1025T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792211"	"3"	"90"	"15"	"72106382"	"72106382"	"subst"	"0"	"00000"	"NR2E3_000086"	"g.72106382T>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1025T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792212"	"3"	"90"	"15"	"72106382"	"72106382"	"subst"	"0"	"00000"	"NR2E3_000086"	"g.72106382T>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1025T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792213"	"3"	"90"	"15"	"72106382"	"72106382"	"subst"	"0"	"00000"	"NR2E3_000086"	"g.72106382T>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.1025T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792245"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:_Audo-2012:22277662}"	""	"c.166G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793727"	"3"	"90"	"15"	"72104170"	"72104170"	"subst"	"0"	"00000"	"NR2E3_000008"	"g.72104170C>T"	""	"{PMID:Collin-2011:21217109}"	""	"c.310C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793728"	"3"	"50"	"15"	"72104828"	"72104829"	"del"	"0"	"00000"	"NR2E3_000069"	"g.72104828_72104829del"	""	"{PMID:Collin-2011:21217109}"	""	"c.724_725del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000793729"	"3"	"50"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Collin-2011:21217109}"	""	"c.119–2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000793973"	"3"	"90"	"15"	"72103847"	"72103848"	"delins"	"0"	"00000"	"NR2E3_000151"	"g.72103847_72103848delinsN[25]"	"0/100 unrelated normal controls"	"{PMID:kannabiran-2012:22605927}"	""	"c.143_144delGCins25"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000793974"	"3"	"90"	"15"	"72103847"	"72103848"	"delins"	"0"	"00000"	"NR2E3_000151"	"g.72103847_72103848delinsN[25]"	"0/100 unrelated normal controls"	"{PMID:kannabiran-2012:22605927}"	""	"c.143_144delGCins25"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000794011"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"IGF1R_000000"	"g.72103870G>M"	""	"{PMID:Blanco-Kelly-2012:22736939}"	""	"p.Gly56Arg"	""	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000794012"	"0"	"90"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Blanco-Kelly-2012:22736939}"	""	"p.Gly56Arg"	""	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000794728"	"3"	"70"	"15"	"72105912"	"72105912"	"subst"	"5.80948E-5"	"00000"	"NR2E3_000152"	"g.72105912C>T"	""	"{PMID:Patel 2018:30054919}"	""	"NM_014249.3:c.931C>T; p.(Arg311Trp)"	""	"Germline"	"yes"	"rs76744"	"0"	""	""	"g.71813572C>T"	""	"likely pathogenic"	"ACMG"
"0000794731"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Patel 2018:30054919}"	""	"NM_014249.3:c.932G>A;p.(Arg311Gln)"	""	"Germline"	"yes"	"rs28937"	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	"ACMG"
"0000794745"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Patel 2018:30054919}"	""	"NM_014249.3:c.932G>A;p.(Arg311Gln)"	""	"Germline"	"yes"	"rs28937"	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	"ACMG"
"0000794817"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_014249, c.932G>A, p.Arg311Gln"	""	"Germline"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000794982"	"3"	"50"	"15"	"72105932"	"72105932"	"del"	"0"	"00000"	"NR2E3_000153"	"g.72105932del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.C951del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000794983"	"3"	"50"	"15"	"72105932"	"72105932"	"del"	"0"	"00000"	"NR2E3_000153"	"g.72105932del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.C951del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000795070"	"3"	"90"	"15"	"72104309"	"72104309"	"subst"	"0"	"00000"	"NR2E3_000088"	"g.72104309C>T"	""	"{PMID:Bocquet-2013:23350551}"	""	"c.364C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000795071"	"3"	"90"	"15"	"72104309"	"72104309"	"subst"	"0"	"00000"	"NR2E3_000088"	"g.72104309C>T"	""	"{PMID:Bocquet-2013:23350551}"	""	"c.364C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796004"	"0"	"50"	"15"	"72104297"	"72104297"	"subst"	"2.03291E-5"	"00000"	"NR2E3_000154"	"g.72104297G>C"	""	"{PMID:Chen-2013:23661368}"	""	"c.352G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000796272"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.119-2A>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796845"	"0"	"70"	"15"	"72104798"	"72104798"	"subst"	"0.00173416"	"00000"	"NR2E3_000044"	"g.72104798G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.694G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796972"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.166G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797083"	"3"	"70"	"15"	"72104169"	"72104169"	"subst"	"0"	"00000"	"NR2E3_000120"	"g.72104169C>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.309C>A, p.Cys103*"	"Homozygous"	"Germline"	"?"	""	"0"	""	""	"g.71811829C>A"	""	"likely pathogenic"	"ACMG"
"0000797084"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Birtel 2018:30543658}"	""	"c.119-2A>C , Splice"	"Heterozygous"	"Germline"	"yes"	"rs2723341"	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	"ACMG"
"0000797085"	"3"	"90"	"15"	"72106407"	"72106407"	"subst"	"8.18599E-6"	"00000"	"NR2E3_000031"	"g.72106407A>G"	""	"{PMID:Birtel 2018:30543658}"	""	"c.1049A>G, p.Gln350Arg"	"Homozygous"	"Germline"	"yes"	"rs756678889"	"0"	""	""	"g.71814066A>G"	""	"pathogenic"	"ACMG"
"0000797122"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.166G>A, p.Gly56Arg"	"Heterozygous"	"Germline"	"?"	"rs121912631"	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	"ACMG"
"0000797157"	"0"	"50"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.227G>A, p.Arg76Gln"	"Heterozygous"	"Germline"	""	""	"0"	""	""	"g.71811591G>A"	""	"VUS"	"ACMG"
"0000797699"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.119-2A>C, p.(?), c.932G>A, p.(Arg311Gln), RLBP1 c.(525+1_526-1), _(*1_?), del"	""	"Germline"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	"ACMG"
"0000797700"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.119-2A>C, p.(?), c.932G>A, p.(Arg311Gln), RLBP1 c.(525+1_526-1), _(*1_?), del"	""	"Germline"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	"ACMG"
"0000797702"	"0"	"70"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00000"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.481del, p.(Thr161Hisfs*18), c.554del, p.(Lys185Serfs*66)"	""	"Germline"	"?"	""	"0"	""	""	"g.71812086del"	""	"likely pathogenic"	"ACMG"
"0000797703"	"0"	"70"	"15"	"72104499"	"72104499"	"del"	"0"	"00000"	"NR2E3_000156"	"g.72104499del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.481del, p.(Thr161Hisfs*18), c.554del, p.(Lys185Serfs*66)"	""	"Germline"	"?"	""	"0"	""	""	"g.71812159del"	""	"likely pathogenic"	"ACMG"
"0000797704"	"0"	"70"	"15"	"72104730"	"72104730"	"dup"	"0"	"00000"	"NR2E3_000157"	"g.72104730dup"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.646G>A, p.(Gly216Ser), c.626dup, p.(Tyr209*), $"	""	"Germline"	"?"	""	"0"	""	""	"g.71812390dup"	""	"likely pathogenic"	"ACMG"
"0000797705"	"0"	"70"	"15"	"72104750"	"72104750"	"subst"	"4.06121E-5"	"00000"	"NR2E3_000148"	"g.72104750G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.646G>A, p.(Gly216Ser), c.626dup, p.(Tyr209*), $"	""	"Germline"	"?"	""	"0"	""	""	"g.71812410G>A"	""	"likely pathogenic"	"ACMG"
"0000797706"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.166G>A, p.(Gly56Arg)"	""	"Germline"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	"ACMG"
"0000797707"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.119-2A>C, p.(?), c.119-2 A>C, p.(?),, pDE6C c.1758C>A, p.(Tyr586*)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic"	"ACMG"
"0000798496"	"3"	"90"	"15"	"72103199"	"72103199"	"subst"	"0"	"00000"	"NR2E3_000155"	"g.72103199A>C"	""	"{PMID:Beryozkin-2014:24474277}"	""	"c.IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000798502"	"3"	"90"	"15"	"72103199"	"72103199"	"subst"	"0"	"00000"	"NR2E3_000155"	"g.72103199A>C"	""	"{PMID:Beryozkin-2014:24474277}"	""	"c.IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000806889"	"0"	"50"	"15"	"72104209"	"72104209"	"subst"	"0"	"02327"	"NR2E3_000158"	"g.72104209G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806890"	"0"	"10"	"15"	"72105933"	"72105933"	"del"	"0"	"02330"	"NR2E3_000081"	"g.72105933del"	""	""	""	"NR2E3(NM_016346.4):c.947delC (p.D316Afs*8), NR2E3(NM_016346.4):c.951delC (p.T318Rfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000806891"	"0"	"30"	"15"	"72109968"	"72109968"	"subst"	"4.06111E-6"	"02330"	"MYO9A_000018"	"g.72109968C>T"	""	""	""	"NR2E3(NM_014249.4):c.1176C>T (p.R392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811434"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.932G>A (p.Arg311Gln), Allele 2 c.932G>A  (p.Arg311Gln)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000811435"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.119-2A>C (p.?), Allele 2 c.119-2A>C (p.?)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000811840"	"0"	"70"	"2"	"72109976"	"72109976"	"subst"	"0"	"00000"	"NR2E3_000001"	"g.72109976T>C"	""	"{PMID:Gao 2019:31054281}"	""	"c.1184T>C, p.Ile395Thr"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.71817635T>C"	""	"likely pathogenic"	""
"0000812179"	"0"	"70"	"15"	"72103855"	"72103855"	"subst"	"0"	"00000"	"NR2E3_000083"	"g.72103855G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.151G>A  p.(Gly51Arg), Ex.6 c.932G>A  p.(Arg311Gln)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811515G>A"	""	"likely pathogenic"	""
"0000812180"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.151G>A  p.(Gly51Arg), Ex.6 c.932G>A  p.(Arg311Gln)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000812236"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 IVS1 c.119-2A>C p.(?), IVS1 c.119-2A>C p.(?)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000812301"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.6 c.932G>A p.(Arg311Gln), Ex.6 c.932G>A p.(Arg311Gln)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000812306"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.6 c.932G>A p.(Arg311Gln), Ex.6 c.932G>A p.(Arg311Gln)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000812318"	"0"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.227G>A p.(Arg76Gln), Ex.4 c.352G>A p.(Val118Met), PDE6A: Ex.5 c.878C>T p.(Pro293Leu) //USH2A: Ex.30 c.5858C>G p.(Ala1953Gly)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000812321"	"0"	"70"	"15"	"72104297"	"72104297"	"subst"	"1.35527E-5"	"00000"	"NR2E3_000068"	"g.72104297G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.227G>A p.(Arg76Gln), Ex.4 c.352G>A p.(Val118Met), PDE6A: Ex.5 c.878C>T p.(Pro293Leu) //USH2A: Ex.30 c.5858C>G p.(Ala1953Gly)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811957G>A"	""	"likely pathogenic"	""
"0000812334"	"3"	"70"	"15"	"72104835"	"72104835"	"del"	"0"	"00000"	"NR2E3_000159"	"g.72104835del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.5 c.731del  p.(Leu244Argfs*7), Ex.5 c.731del  p.(Leu244Argfs*7), CEP290: IVS36 c.4813-2A>G p.(?) // CEP290: IVS36 c.4813-2A>G  p.(?)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71812495del"	""	"likely pathogenic"	""
"0000812337"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 IVS1 c.119-2A>C p.(?), IVS1 c.119-2A>C p.(?)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000812348"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.6 c.932G>A  p.(Arg311Gln), Ex.6 c.932G>A  p.(Arg311Gln)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000812382"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 IVS1 c.119-2A>C p.(?), Ex.3 c.309C>A p.(Cys103*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000812383"	"0"	"70"	"15"	"72104169"	"72104169"	"subst"	"0"	"00000"	"NR2E3_000120"	"g.72104169C>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 IVS1 c.119-2A>C p.(?), Ex.3 c.309C>A p.(Cys103*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811829C>A"	""	"likely pathogenic"	""
"0000812400"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 IVS1 c.119-2A>C p.(?), IVS1 c.119-2A>C p.(?)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000812419"	"3"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.227G>A p.(Arg76Gln), Ex.2 c.227G>A p.(Arg76Gln)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000812439"	"3"	"70"	"15"	"72103855"	"72103855"	"subst"	"0"	"00000"	"NR2E3_000083"	"g.72103855G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.2 c.151G>A p.(Gly51Arg), Ex.2 c.151G>A p.(Gly51Arg)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811515G>A"	""	"likely pathogenic"	""
"0000813210"	"0"	"30"	"15"	"72103901"	"72103901"	"subst"	"0"	"00000"	"NR2E3_000160"	"g.72103901G>C"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.197G>C"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely benign"	""
"0000815932"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.166G>A, p.(Gly56Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000815971"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.119-2A>C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000815986"	"3"	"70"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00000"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.767C>A, p.(Ala256Glu)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813408C>A"	""	"likely pathogenic"	""
"0000816018"	"0"	"70"	"15"	"72103930"	"72103930"	"subst"	"3.09891E-5"	"00000"	"NR2E3_000004"	"g.72103930C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.226C>T, p.Arg76Trp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811590C>T"	""	"likely pathogenic"	""
"0000816051"	"0"	"90"	"15"	"72104171"	"72104171"	"subst"	"0"	"00000"	"NR2E3_000026"	"g.72104171G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.311G>A, p.Arg104Gln"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811831G>A"	""	"pathogenic"	""
"0000816124"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.932G>A, p.(Arg311Gln)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000816157"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.166G>A, p.(Gly56Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000816163"	"0"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.166G>A, p.(Gly56Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000816282"	"0"	"50"	"15"	"72104211"	"72104211"	"subst"	"0"	"00000"	"NR2E3_000161"	"g.72104211T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.349+2T>G"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.71811871T>G"	""	"VUS"	""
"0000816284"	"0"	"50"	"15"	"72104211"	"72104211"	"subst"	"0"	"00000"	"NR2E3_000161"	"g.72104211T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.349+2T>G"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.71811871T>G"	""	"VUS"	""
"0000816321"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.932G>A, p.(Arg311Gln)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000816330"	"0"	"70"	"15"	"72105748"	"72105748"	"subst"	"2.92341E-5"	"00000"	"NR2E3_000018"	"g.72105748C>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.767C>A, p.(Ala256Glu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813408C>A"	""	"likely pathogenic"	""
"0000816361"	"0"	"70"	"15"	"72104309"	"72104309"	"subst"	"0"	"00000"	"NR2E3_000088"	"g.72104309C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.364C>T, p.Arg122Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811969C>T"	""	"likely pathogenic"	""
"0000816440"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.932G>A, p.(Arg311Gln)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000816543"	"0"	"50"	"15"	"72104211"	"72104211"	"subst"	"0"	"00000"	"NR2E3_000161"	"g.72104211T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NR2E3 c.349+2T>G,"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.71811871T>G"	""	"VUS"	""
"0000817495"	"0"	"50"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000150"	"g.72103870G>C"	""	"{PMID:Matsui 2015:26393467}"	""	"p.G56R"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000817691"	"1"	"70"	"15"	"72105748"	"72105748"	"subst"	"2.08815E-5"	"00000"	"NR2E3_000019"	"g.72105748C>T"	""	"{PMID:Zanolli 2020:32141364}"	""	"NR2E3 c.767C>T; c.311G>A"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813408C>T"	""	"likely pathogenic"	""
"0000817692"	"2"	"70"	"15"	"72104171"	"72104171"	"subst"	"0"	"00000"	"NR2E3_000026"	"g.72104171G>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"NR2E3 c.767C>T; c.311G>A"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811831G>A"	""	"likely pathogenic"	""
"0000818490"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00006"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Lingao 2016:26894784}"	""	"IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic (recessive)"	""
"0000818491"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00006"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Lingao 2016:26894784}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	""	"pathogenic (recessive)"	""
"0000818492"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00006"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Lingao 2016:26894784}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic (recessive)"	""
"0000818500"	"2"	"90"	"15"	"72104165"	"72104165"	"subst"	"0"	"00006"	"NR2E3_000141"	"g.72104165C>A"	""	"{PMID:Lingao 2016:26894784}"	""	"GCC>GAC (Ala102Asp)"	""	"Germline"	""	""	"0"	""	""	"g.71811825C>A"	""	"pathogenic (recessive)"	""
"0000818501"	"2"	"90"	"15"	"72105778"	"72105778"	"subst"	"0"	"00006"	"NR2E3_000162"	"g.72105778T>A"	""	"{PMID:Lingao 2016:26894784}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71813438T>A"	""	"pathogenic (recessive)"	""
"0000819305"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819306"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819338"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819339"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819340"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819341"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819342"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819343"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819639"	"1"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.226G>A/p.R76Q, variant 2: c.226G>A/p.R76Q"	"error in annotation, p.R76Q is caused by c.227G>A and not c.226G>A, solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000819640"	"1"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.226G>A/p.R76Q, variant 2: c.226G>A/p.R76Q"	"error in annotation, p.R76Q is caused by c.227G>A and not c.226G>A, solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000819669"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000819840"	"1"	"70"	"15"	"72104508"	"72104508"	"subst"	"0"	"00000"	"NR2E3_000165"	"g.72104508C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.563C>G/p.P188R"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71812168C>G"	""	"likely pathogenic"	""
"0000820002"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.?"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820003"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.?"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820059"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820060"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820148"	"1"	"70"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.166G>A/p.G56R"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000820196"	"1"	"70"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00000"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.481del/p.T161Hfs*18, variant 2: c.119-2A>C/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71812086del"	""	"likely pathogenic"	""
"0000820235"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.328C>T/p.Q110*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820240"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.406G>T/p.E136*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820444"	"1"	"70"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00000"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.481del/p.T161Hfs*18, variant 2: c.931C>T/p.R311W"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71812086del"	""	"likely pathogenic"	""
"0000820481"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.119-2A>C/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820488"	"1"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.227G>A/p.R76Q, variant 2: c.227G>A/p.R76Q"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000820544"	"1"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.227G>A/p.R76Q, variant 2: c.994G>C/p.E332Q"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	""
"0000820838"	"1"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.481del/p.T161Hfs*18, variant 2: c.119-2A>C/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000820848"	"1"	"70"	"15"	"72104188"	"72104188"	"subst"	"0"	"00000"	"NR2E3_000164"	"g.72104188C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.328C>T/p.Q110*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811848C>T"	""	"likely pathogenic"	""
"0000820849"	"1"	"70"	"15"	"72104351"	"72104351"	"subst"	"0"	"00000"	"NR2E3_000137"	"g.72104351G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.119-2A>C/p.?, variant 2: c.406G>T/p.E136*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71812011G>T"	""	"likely pathogenic"	""
"0000820916"	"1"	"70"	"15"	"72105912"	"72105912"	"subst"	"5.80948E-5"	"00000"	"NR2E3_000152"	"g.72105912C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.481del/p.T161Hfs*18, variant 2: c.931C>T/p.R311W"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813572C>T"	""	"likely pathogenic"	""
"0000820966"	"1"	"70"	"15"	"72105976"	"72105976"	"subst"	"0"	"00000"	"NR2E3_000166"	"g.72105976G>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NR2E3, variant 1: c.227G>A/p.R76Q, variant 2: c.994G>C/p.E332Q"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813635G>C"	""	"likely pathogenic"	""
"0000821312"	"0"	"70"	"15"	"72106383"	"72106383"	"subst"	"4.10243E-6"	"00000"	"NR2E3_000167"	"g.72106383T>C"	""	"{PMID:Turro 2020:32581362}"	""	"NR2E3 n.1215T>C,"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71814042T>C"	""	"likely pathogenic"	""
"0000821313"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Turro 2020:32581362}"	""	"NR2E3 n.309-2A>C,"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000821314"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Turro 2020:32581362}"	""	"NR2E3 c.119-2A>C,"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000821315"	"3"	"70"	"15"	"72104165"	"72104165"	"subst"	"0"	"00000"	"NR2E3_000141"	"g.72104165C>A"	""	"{PMID:Turro 2020:32581362}"	""	"NR2E3 c.305C>A,"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811825C>A"	""	"likely pathogenic"	""
"0000821584"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0"	"00000"	"NR2E3_000163"	"g.72103821A>G"	""	"{PMID:Turro 2020:32581362}"	""	"NR2E3 n.309-2A>C,"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.71811481A>G"	""	"likely pathogenic"	""
"0000822090"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Booij-2011:20801516}"	""	"c.932G>A"	""	"Germline"	""	"rs28937873"	"0"	""	""	""	""	"likely pathogenic"	""
"0000822949"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Méjécase 2020:32783370}"	""	"NR2E3 c.932G>A p.(Arg311Gln)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71813573G>A"	""	"likely pathogenic"	""
"0000823566"	"11"	"90"	"17"	"72107582"	"72107582"	"subst"	"0"	"00000"	"NR2E3_000001"	"g.72107582G>A"	""	"{PMID:DiScipio 2020:32881472}"	""	"NR2E3; NM_014249.3; c.1100+1124G>A; g.17:71815241G>A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.71815241G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000823571"	"21"	"90"	"17"	"87674402"	"87674402"	"subst"	"0"	"00000"	"NR2E3_000001"	"g.87674402T>A"	""	"{PMID:DiScipio 2020:32881472}"	""	"NR2E3; NM_014249.3; c.119-2A>C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.86662174T>A"	""	"pathogenic (recessive)"	"ACMG"
"0000827130"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.166G>A"	""	"Germline"	"yes"	"rs121912631"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827131"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.166G>A"	""	"Germline"	"yes"	"rs121912631"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000829791"	"0"	"70"	"15"	"72105976"	"72105976"	"subst"	"0"	"00000"	"NR2E3_000168"	"g.72105976G>T"	""	"{PMID:Dockery 2017:29099798}"	""	"NR2E3 c.994G>T, p.Glu332 *"	"only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees,"	"Germline"	"yes"	""	"0"	""	""	"g.71813635G>T"	""	"likely pathogenic"	""
"0000829811"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Dockery 2017:29099798}"	""	"NR2E3 p.119-2A>C"	"only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, error in annotation, p.119-2A>C in paper, no c.DNA annotation in paper for this variant"	"Germline"	"yes"	""	"0"	""	""	"g.71811481A>C"	""	"likely pathogenic"	""
"0000834071"	"0"	"30"	"15"	"0"	"0"	"del"	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Bhatia 2019:30851773}"	""	"p.Arg155fs"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely benign"	""
"0000846463"	"0"	"70"	"14"	"72103870"	"72103870"	"subst"	"0"	"00000"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Chebil 2016:26868535}"	""	"NR2E3 c.166G>A, G56R"	"dominant heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.71811530G>A"	""	"likely pathogenic"	""
"0000854148"	"0"	"50"	"15"	"72103835"	"72103835"	"subst"	"0.000303477"	"01943"	"NR2E3_000051"	"g.72103835C>T"	""	""	""	"NR2E3(NM_016346.3):c.131C>T (p.S44L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854149"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"02327"	"NR2E3_000024"	"g.72103870G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000854150"	"0"	"30"	"15"	"72104133"	"72104133"	"subst"	"1.3563E-5"	"01943"	"NR2E3_000169"	"g.72104133C>T"	""	""	""	"NR2E3(NM_016346.3):c.273C>T (p.P91=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854151"	"0"	"50"	"15"	"72104744"	"72104744"	"subst"	"0"	"02330"	"NR2E3_000170"	"g.72104744C>G"	""	""	""	"NR2E3(NM_016346.4):c.640C>G (p.P214A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863945"	"0"	"70"	"15"	"72103178"	"72103178"	"subst"	"0"	"02330"	"NR2E3_000082"	"g.72103178G>A"	""	""	""	"NR2E3(NM_016346.4):c.95G>A (p.W32*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000863946"	"0"	"30"	"15"	"72106420"	"72106420"	"subst"	"8.19854E-5"	"01943"	"NR2E3_000171"	"g.72106420C>G"	""	""	""	"NR2E3(NM_016346.3):c.1062C>G (p.S354R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000869572"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Khan 2007:17322467}"	""	"IVS1-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000869573"	"3"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Khan 2007:17322467}"	""	"R311Q, CGG>CAG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000869574"	"3"	"90"	"15"	"72109908"	"72109908"	"subst"	"0"	"00000"	"NR2E3_000179"	"g.72109908A>G"	"0/100 indian controls"	"{PMID:Manayath 2014:24891813}"	""	"c.1117 A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869575"	"3"	"90"	"15"	"72109908"	"72109908"	"subst"	"0"	"00000"	"NR2E3_000179"	"g.72109908A>G"	"0/100 indian controls"	"{PMID:Manayath 2014:24891813}"	""	"c.1117 A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869576"	"0"	"90"	"15"	"72104165"	"72104165"	"subst"	"0"	"00000"	"NR2E3_000141"	"g.72104165C>A"	""	"{PMID:Collision 2016:27033713}"	""	"Ala102Asp GCC>GAC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869577"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Collision 2016:27033713}"	""	"IVS1-2 A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869578"	"0"	"90"	"15"	"72105789"	"72105790"	"del"	"0"	"00000"	"NR2E3_000176"	"g.72105789_72105790del"	""	"{PMID:Collision 2017:27033713}"	""	"Ser269del2tggTC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869579"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Collision 2017:27033713}"	""	"IVS1-2 A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869580"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Collision 2018:27033713}"	""	"IVS1-2 A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869581"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Collision 2019:27033713}"	""	"Arg311Gln CGG>CAG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869582"	"0"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Collision 2019:27033713}"	""	"IVS1-2 A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869583"	"3"	"70"	"15"	"72105900"	"72105901"	"del"	"0"	"00000"	"NR2E3_000177"	"g.72105900_72105901del"	""	"{PMID:Kuniyoshi 2016:27522502}"	""	"p.I307LfsX33"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000869584"	"0"	"70"	"15"	"72104171"	"72104171"	"subst"	"0"	"00000"	"NR2E3_000026"	"g.72104171G>A"	""	"{PMID:Kuniyoshi 2016:27522502}"	""	"p.R104Q"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000869585"	"11"	"90"	"15"	"72105771"	"72105771"	"subst"	"1.26155E-5"	"00000"	"NR2E3_000175"	"g.72105771G>A"	""	"{PMID:Termuhlen 2016:27573156}"	""	"c.790G>A; p.G264R"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869586"	"21"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Termuhlen 2016:27573156}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000869588"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869589"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869590"	"2"	"90"	"15"	"72106364"	"72106364"	"subst"	"0"	"00000"	"NR2E3_000022"	"g.72106364T>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.1007T>C,p.L336P"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869591"	"3"	"90"	"15"	"72103900"	"72103905"	"del"	"0"	"00000"	"NR2E3_000085"	"g.72103900_72103905del"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.196_201del,p.G66_C67del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869592"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869593"	"2"	"90"	"15"	"72106364"	"72106364"	"subst"	"0"	"00000"	"NR2E3_000022"	"g.72106364T>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.1007T>C,p.L336P"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869594"	"1"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869595"	"2"	"90"	"15"	"72103915"	"72103917"	"del"	"0"	"00000"	"NR2E3_000025"	"g.72103915_72103917del"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.211_213del,p.F71del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869596"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869597"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869598"	"1"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869599"	"2"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869600"	"3"	"90"	"15"	"72110011"	"72110011"	"subst"	"0"	"00000"	"NR2E3_000015"	"g.72110011T>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.1220T>A,p.M407K"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869601"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869602"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869603"	"2"	"90"	"15"	"72105769"	"72105769"	"subst"	"0"	"00000"	"NR2E3_000020"	"g.72105769T>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.788T>C,p.L263P"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869604"	"1"	"90"	"15"	"72105906"	"72105906"	"subst"	"4.17014E-6"	"00000"	"NR2E3_000010"	"g.72105906C>G"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.925C>G,p.R309G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869605"	"2"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869606"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869607"	"2"	"90"	"15"	"72104170"	"72104170"	"subst"	"0"	"00000"	"NR2E3_000008"	"g.72104170C>T"	""	"{PMID:Garafalo 2018:29971438}"	""	"p.R104W"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869608"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869609"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869610"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869611"	"1"	"90"	"15"	"72104805"	"72104805"	"subst"	"0"	"00000"	"NR2E3_000029"	"g.72104805G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.701G>A,p.W234S"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869612"	"2"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869613"	"1"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869614"	"2"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869615"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869616"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869617"	"3"	"90"	"15"	"72104150"	"72104150"	"subst"	"0"	"00000"	"NR2E3_000007"	"g.72104150G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.290G>A,p.R97H"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869618"	"1"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869619"	"2"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869620"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869621"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869622"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869623"	"2"	"90"	"15"	"72106452"	"72106452"	"subst"	"0"	"00000"	"NR2E3_000023"	"g.72106452C>G"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.1095C>G,p.P365P"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869624"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869625"	"2"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869626"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869627"	"2"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869628"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869629"	"2"	"90"	"15"	"72106452"	"72106452"	"subst"	"0"	"00000"	"NR2E3_000023"	"g.72106452C>G"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.1095C>G,p.P365P"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869630"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869631"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869632"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869633"	"2"	"90"	"15"	"72105748"	"72105748"	"subst"	"2.08815E-5"	"00000"	"NR2E3_000019"	"g.72105748C>T"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.767C>T,p.A256E"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869634"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869635"	"2"	"90"	"15"	"72105769"	"72105769"	"subst"	"0"	"00000"	"NR2E3_000020"	"g.72105769T>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.788T>C,p.L263P"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869636"	"3"	"90"	"15"	"72104150"	"72104150"	"subst"	"0"	"00000"	"NR2E3_000007"	"g.72104150G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.290G>A,p.R97H"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869637"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869638"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869639"	"2"	"90"	"15"	"72103898"	"72103906"	"del"	"0"	"00000"	"NR2E3_000016"	"g.72103898_72103906del"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.194_202del,p.N65_C67del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869640"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869641"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Garafalo 2018:29971438}"	""	"c.932G>A,p.R311Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869642"	"1"	"90"	"15"	"72109909"	"72109909"	"subst"	"0"	"00000"	"NR2E3_000180"	"g.72109909T>C"	""	"{PMID:Minnella 2018:30285900}"	""	"c.1118T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869643"	"2"	"90"	"15"	"72104214"	"72104214"	"subst"	"6.85486E-6"	"00000"	"NR2E3_000172"	"g.72104214G>C"	""	"{PMID:Minnella 2018:30285900}"	""	"c.349+5G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869644"	"0"	"70"	"15"	"72104418"	"72104418"	"subst"	"0"	"00000"	"NR2E3_000173"	"g.72104418G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.473G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869645"	"0"	"70"	"15"	"72106361"	"72106361"	"subst"	"0"	"00000"	"NR2E3_000178"	"g.72106361G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.1004G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869646"	"0"	"70"	"15"	"72110016"	"72110016"	"subst"	"0"	"00000"	"NR2E3_000182"	"g.72110016A>G"	""	"{PMID:Murro 2018:30324420}"	""	"c.1225A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869647"	"0"	"70"	"15"	"72104418"	"72104418"	"subst"	"0"	"00000"	"NR2E3_000173"	"g.72104418G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.473G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869648"	"0"	"70"	"15"	"72106361"	"72106361"	"subst"	"0"	"00000"	"NR2E3_000178"	"g.72106361G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.1004G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869649"	"0"	"70"	"15"	"72110016"	"72110016"	"subst"	"0"	"00000"	"NR2E3_000182"	"g.72110016A>G"	""	"{PMID:Murro 2018:30324420}"	""	"c.1225A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869650"	"0"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.227G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869651"	"0"	"70"	"15"	"72104214"	"72104214"	"subst"	"6.85486E-6"	"00000"	"NR2E3_000172"	"g.72104214G>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.349+5G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869652"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869653"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.932G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869654"	"0"	"70"	"15"	"72110014"	"72110014"	"del"	"0"	"00000"	"NR2E3_000181"	"g.72110014del"	""	"{PMID:Murro 2018:30324420}"	""	"c.1223del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869655"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869656"	"0"	"70"	"15"	"72104188"	"72104188"	"subst"	"0"	"00000"	"NR2E3_000164"	"g.72104188C>T"	""	"{PMID:Murro 2018:30324420}"	""	"c.328C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869657"	"0"	"70"	"15"	"72104214"	"72104214"	"subst"	"6.85486E-6"	"00000"	"NR2E3_000172"	"g.72104214G>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.349+5G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869658"	"0"	"70"	"15"	"72109909"	"72109909"	"subst"	"0"	"00000"	"NR2E3_000180"	"g.72109909T>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.1118T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869659"	"3"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869660"	"0"	"70"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00000"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Murro 2018:30324420}"	""	"c.119-2A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869661"	"0"	"70"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00000"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.932G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869662"	"3"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00000"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Murro 2018:30324420}"	""	"c.227G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869663"	"3"	"70"	"15"	"72104309"	"72104309"	"subst"	"0"	"00000"	"NR2E3_000088"	"g.72104309C>T"	""	"{PMID:Murro 2018:30324420}"	""	"c.364C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000869664"	"3"	"90"	"15"	"72105736"	"72105736"	"subst"	"0"	"00000"	"NR2E3_000174"	"g.72105736T>C"	""	"{PMID:Cehajic-Kapetanovic 2018:30466340}"	""	"c.755T> C (p. Leu252Pro)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000892224"	"0"	"30"	"15"	"72105839"	"72105839"	"subst"	"2.06136E-5"	"02330"	"NR2E3_000183"	"g.72105839C>T"	""	""	""	"NR2E3(NM_016346.4):c.858C>T (p.A286=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000892225"	"0"	"50"	"15"	"72105906"	"72105906"	"subst"	"8.34028E-6"	"02327"	"NR2E3_000184"	"g.72105906C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000892226"	"0"	"50"	"15"	"72106407"	"72106407"	"subst"	"8.18599E-6"	"02327"	"NR2E3_000031"	"g.72106407A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000915953"	"3"	"50"	"15"	"72106405"	"72106405"	"subst"	"0"	"04436"	"NR2E3_000186"	"g.72106405C>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1048C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000915985"	"3"	"70"	"15"	"72105912"	"72105912"	"subst"	"5.80948E-5"	"04436"	"NR2E3_000152"	"g.72105912C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.931C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916051"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"04436"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.166G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916081"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"04436"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.932G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916337"	"1"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"04436"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.119-2A>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916338"	"2"	"50"	"15"	"72105949"	"72105949"	"subst"	"0"	"04436"	"NR2E3_000185"	"g.72105949T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.968T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916677"	"3"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"04436"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.932G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000950433"	"0"	"30"	"15"	"72103957"	"72103957"	"subst"	"0.000910154"	"02330"	"NR2E3_000038"	"g.72103957C>T"	""	""	""	"NR2E3(NM_016346.3):c.245+8C>T, NR2E3(NM_016346.4):c.245+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000957989"	"0"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00006"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1, PM2, PM1_SUPPORTING, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	"ACMG"
"0000958037"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00006"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	"191059"	"pathogenic"	"ACMG"
"0000958038"	"3"	"90"	"15"	"72103821"	"72103821"	"subst"	"0.000512223"	"00006"	"NR2E3_000001"	"g.72103821A>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.71811481A>C"	"191059"	"pathogenic"	"ACMG"
"0000958277"	"0"	"90"	"15"	"72105913"	"72105913"	"subst"	"0.000399524"	"00006"	"NR2E3_000011"	"g.72105913G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.71813573G>A"	""	"pathogenic"	"ACMG"
"0000958350"	"3"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00006"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PM1_SUPPORTING, PP5"	"Germline"	""	""	"0"	""	""	"g.71811591G>A"	"5530"	"likely pathogenic"	"ACMG"
"0000958354"	"0"	"70"	"15"	"72104123"	"72104123"	"subst"	"0"	"00006"	"NR2E3_000006"	"g.72104123G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PM1_SUPPORTING, PP5"	"Germline"	""	""	"0"	""	""	"g.71811783G>T"	"987298"	"likely pathogenic"	"ACMG"
"0000958413"	"0"	"70"	"15"	"72103931"	"72103931"	"subst"	"0.00020754"	"00006"	"NR2E3_000005"	"g.72103931G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PM1_SUPPORTING, PP5"	"Germline"	""	""	"0"	""	""	"g.71811591G>A"	""	"likely pathogenic"	"ACMG"
"0000958593"	"0"	"90"	"15"	"72104108"	"72104108"	"subst"	"1.35599E-5"	"00006"	"NR2E3_000066"	"g.72104108G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.71811768G>A"	""	"pathogenic"	"ACMG"
"0000958639"	"0"	"90"	"15"	"72104351"	"72104351"	"subst"	"0"	"00006"	"NR2E3_000137"	"g.72104351G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.71812011G>T"	"813198"	"pathogenic"	"ACMG"
"0000958644"	"0"	"90"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00006"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"pathogenic"	"ACMG"
"0000958847"	"0"	"70"	"15"	"72109963"	"72109964"	"del"	"0"	"00006"	"MYO9A_000003"	"g.72109963_72109964del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.71817622_71817623del"	""	"likely pathogenic"	"ACMG"
"0000959030"	"0"	"90"	"15"	"72104426"	"72104426"	"del"	"3.90706E-5"	"00006"	"NR2E3_000009"	"g.72104426del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.71812086del"	""	"pathogenic"	"ACMG"
"0000959058"	"0"	"90"	"15"	"72105907"	"72105907"	"subst"	"0"	"00006"	"NR2E3_000128"	"g.72105907G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5, PM1, PP5_STRONG; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.71813567G>T"	""	"pathogenic"	"ACMG"
"0000959280"	"0"	"50"	"15"	"72103855"	"72103855"	"subst"	"0"	"00006"	"NR2E3_000083"	"g.72103855G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1_SUPPORTING, PP5"	"Germline"	""	""	"0"	""	""	"g.71811515G>A"	""	"VUS"	"ACMG"
"0000967914"	"0"	"90"	"15"	"72104828"	"72104829"	"del"	"0"	"02329"	"NR2E3_000069"	"g.72104828_72104829del"	""	""	""	"NR2E3(NM_016346.4):c.724_725delTC (p.S242Qfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000981386"	"0"	"50"	"15"	"72106356"	"72106356"	"subst"	"9.9881E-5"	"01804"	"NR2E3_000131"	"g.72106356C>T"	""	""	""	"NR2E3(NM_014249.4):c.998C>T (p.(Thr333Met)), NR2E3(NM_016346.3):c.998C>T (p.T333M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015231"	"0"	"50"	"15"	"72106454"	"72106454"	"subst"	"0.000145108"	"02325"	"NR2E3_000187"	"g.72106454G>A"	""	""	""	"NR2E3(NM_014249.4):c.1096G>A (p.V366M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001022271"	"1"	"90"	"15"	"72103870"	"72103870"	"subst"	"0"	"00006"	"NR2E3_000024"	"g.72103870G>A"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs121912631"	"0"	""	""	"g.71811530G>A"	""	"pathogenic"	""
"0001040532"	"0"	"50"	"15"	"72103874"	"72103874"	"subst"	"0.000153111"	"01804"	"NR2E3_000097"	"g.72103874A>G"	""	""	""	"NR2E3(NM_014249.4):c.170A>G (p.(Lys57Arg)), NR2E3(NM_016346.3):c.170A>G (p.K57R), NR2E3(NM_016346.4):c.170A>G (p.K57R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040533"	"0"	"50"	"15"	"72105883"	"72105883"	"subst"	"9.36497E-5"	"01804"	"NR2E3_000103"	"g.72105883G>A"	""	""	""	"NR2E3(NM_014249.4):c.902G>A (p.(Arg301His)), NR2E3(NM_016346.4):c.902G>A (p.R301H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes NR2E3
## Count = 619
"{{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}}"
"0000059952"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059953"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059954"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059955"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059956"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059957"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059958"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059959"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059960"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059961"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059962"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059963"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059964"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059965"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059966"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059967"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059968"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059969"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059970"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059971"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059972"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059973"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059974"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059975"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059976"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059977"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059978"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059979"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059980"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059981"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059982"	"00025608"	"99"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059983"	"00025608"	"99"	"119"	"-3"	"119"	"-3"	"c.119-3C>G"	"r.(119_245del)"	"p.(Val41Aalfs*23)"	"1i"
"0000059984"	"00025608"	"99"	"145"	"0"	"145"	"0"	"c.145G>A"	"r.(?)"	"p.V49M"	"2"
"0000059985"	"00025608"	"99"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.R76W"	"2"
"0000059986"	"00025608"	"99"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.R76Q"	"2"
"0000059987"	"00025608"	"99"	"263"	"0"	"263"	"0"	"c.263G>T"	"r.(?)"	"p.G88V"	"3"
"0000059988"	"00025608"	"99"	"290"	"0"	"290"	"0"	"c.290G>A"	"r.(?)"	"p.R97H"	"3"
"0000059989"	"00025608"	"99"	"290"	"0"	"290"	"0"	"c.290G>A"	"r.(?)"	"p.R97H"	"3"
"0000059990"	"00025608"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	"3"
"0000059991"	"00025608"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	"3"
"0000059992"	"00025608"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	"3"
"0000059993"	"00025608"	"99"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161HisfsTer18)"	"4"
"0000059994"	"00025608"	"99"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161HisfsTer18)"	"4"
"0000059995"	"00025608"	"99"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161HisfsTer18)"	"4"
"0000059996"	"00025608"	"99"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161HisfsTer18)"	"4"
"0000059997"	"00025608"	"99"	"925"	"0"	"925"	"0"	"c.925C>G"	"r.(?)"	"p.(Arg309Gly)"	"6"
"0000059998"	"00025608"	"99"	"925"	"0"	"925"	"0"	"c.925C>G"	"r.(?)"	"p.(Arg309Gly)"	"6"
"0000059999"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060000"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060001"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060002"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060003"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060004"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060005"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060006"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060007"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060008"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060009"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060010"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060011"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060012"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060013"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060014"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060015"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060016"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060017"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060018"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060019"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060020"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060021"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060022"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060023"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060024"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060025"	"00025608"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000060026"	"00025608"	"99"	"1034"	"0"	"1038"	"0"	"c.1034_1038del"	"r.(?)"	"p.(Leu345*)"	"7"
"0000060027"	"00025608"	"99"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Gln350*)"	"7"
"0000060028"	"00025608"	"99"	"1101"	"-1"	"1101"	"-1"	"c.1101-1G>A"	"r.(ex8del)"	"p.?"	"7i"
"0000060029"	"00025608"	"99"	"1220"	"0"	"1220"	"0"	"c.1220T>A"	"r.(?)"	"p.(M407K)"	"8"
"0000060030"	"00025608"	"99"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000060031"	"00025608"	"99"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000060032"	"00025608"	"99"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000060033"	"00025608"	"99"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000060034"	"00025608"	"99"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000060035"	"00025608"	"99"	"242"	"0"	"242"	"0"	"c.242A>G"	"r.(?)"	"p.(Y81C)"	"2"
"0000060036"	"00025608"	"99"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(A256E)"	"6"
"0000060037"	"00025608"	"99"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(A256E)"	"6"
"0000060038"	"00025608"	"99"	"767"	"0"	"767"	"0"	"c.767C>T"	"r.(?)"	"p.(A256V)"	"6"
"0000060039"	"00025608"	"99"	"788"	"0"	"788"	"0"	"c.788T>C"	"r.(?)"	"p.(L263P)"	"6"
"0000060040"	"00025608"	"99"	"827"	"0"	"843"	"0"	"c.827_843del"	"r.(?)"	"p.(Pro276Argfs*59)"	"6"
"0000060041"	"00025608"	"99"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(L336P)"	"7"
"0000060042"	"00025608"	"99"	"1095"	"0"	"1095"	"0"	"c.1095C>G"	"r.spl"	"p.?"	"7"
"0000060043"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060044"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060045"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060046"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060047"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060048"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060049"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060050"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060051"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060052"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060053"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060054"	"00025608"	"99"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000060055"	"00025608"	"99"	"211"	"0"	"213"	"0"	"c.211_213del"	"r.(?)"	"p.(Phe71del)"	"2"
"0000060056"	"00025608"	"99"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(R104Q)"	"3"
"0000060057"	"00025608"	"99"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(R104Q)"	"3"
"0000060058"	"00025608"	"99"	"1000"	"0"	"1000"	"0"	"c.1000C>G"	"r.(?)"	"p.(R334G)"	"7"
"0000060059"	"00025608"	"99"	"1057"	"0"	"1057"	"0"	"c.1057C>G"	"r.(?)"	"p.(L353V)"	"7"
"0000060060"	"00025608"	"99"	"701"	"0"	"701"	"0"	"c.701G>A"	"r.(?)"	"p.(W234S)"	"5"
"0000060061"	"00025608"	"99"	"747"	"1"	"747"	"1"	"c.747+1G>C"	"r.(ex6del)"	"p.(?)"	"5i"
"0000060062"	"00025608"	"99"	"1049"	"0"	"1049"	"0"	"c.1049A>G"	"r.(?)"	"p.(Q350R)"	"7"
"0000060063"	"00025608"	"50"	"361"	"0"	"361"	"0"	"c.361G>A"	"r.(?)"	"p.(E121K)"	"4"
"0000060064"	"00025608"	"50"	"361"	"0"	"361"	"0"	"c.361G>A"	"r.(?)"	"p.(E121K)"	"4"
"0000060065"	"00025608"	"99"	"1154"	"0"	"1154"	"0"	"c.1154G>C"	"r.(?)"	"p.(R385P)"	"8"
"0000060066"	"00025608"	"11"	"119"	"-28"	"119"	"-28"	"c.119-28T>C"	"r.(=)"	"p.(=)"	"1i"
"0000060067"	"00025608"	"11"	"119"	"-27"	"119"	"-12"	"c.119-27_119-12del"	"r.(=)"	"p.(=)"	"1i"
"0000060068"	"00025608"	"11"	"119"	"-27"	"119"	"-12"	"c.119-27_119-12dup"	"r.(=)"	"p.(=)"	"1i"
"0000060069"	"00025608"	"11"	"210"	"0"	"210"	"0"	"c.210C>T"	"r.(?)"	"p.(=)"	"2"
"0000060070"	"00025608"	"11"	"245"	"8"	"245"	"8"	"c.245+8C>T"	"r.(=)"	"p.(=)"	"2i"
"0000060071"	"00025608"	"11"	"285"	"0"	"285"	"0"	"c.285C>T"	"r.(?)"	"p.(=)"	"3"
"0000060072"	"00025608"	"11"	"333"	"0"	"333"	"0"	"c.333G>T"	"r.(?)"	"p.(=)"	"3"
"0000060073"	"00025608"	"11"	"419"	"0"	"419"	"0"	"c.419A>G"	"r.(?)"	"p.(E140G)"	"4"
"0000060074"	"00025608"	"11"	"488"	"0"	"488"	"0"	"c.488T>C"	"r.(?)"	"p.(M163T)"	"4"
"0000060075"	"00025608"	"11"	"505"	"0"	"505"	"0"	"c.505C>T"	"r.(?)"	"p.(=)"	"4"
"0000060076"	"00025608"	"11"	"694"	"0"	"694"	"0"	"c.694G>A"	"r.(?)"	"p.(V232I)"	"5"
"0000060077"	"00025608"	"11"	"747"	"90"	"747"	"90"	"c.747+90C>T"	"r.(=)"	"p.(=)"	"5i"
"0000060078"	"00025608"	"11"	"864"	"0"	"864"	"0"	"c.864T>A"	"r.(?)"	"p.(=)"	"6"
"0000060079"	"00025608"	"11"	"882"	"0"	"882"	"0"	"c.882G>A"	"r.(?)"	"p.(=)"	"6"
"0000060080"	"00025608"	"11"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(V302I)"	"6"
"0000060081"	"00025608"	"11"	"1005"	"0"	"1005"	"0"	"c.1005C>A"	"r.(?)"	"p.(=)"	"7"
"0000060082"	"00025608"	"50"	"67"	"0"	"67"	"0"	"c.67G>C"	"r.(?)"	"p.(A23P)"	"1"
"0000060083"	"00025608"	"50"	"131"	"0"	"131"	"0"	"c.131C>T"	"r.(?)"	"p.(S44L)"	"2"
"0000060084"	"00025608"	"50"	"188"	"0"	"188"	"0"	"c.188C>A"	"r.(?)"	"p.(A63D)"	"2"
"0000060085"	"00025608"	"50"	"195"	"0"	"195"	"0"	"c.195C>T"	"r.(?)"	"p.(=)"	"2"
"0000060086"	"00025608"	"50"	"205"	"0"	"205"	"0"	"c.205G>A"	"r.(?)"	"p.(G69S)"	"2"
"0000060087"	"00025608"	"50"	"230"	"0"	"230"	"0"	"c.230G>A"	"r.(?)"	"p.(R77Q)"	"2"
"0000060088"	"00025608"	"50"	"859"	"0"	"859"	"0"	"c.859G>A"	"r.(?)"	"p.(G287S)"	"6"
"0000060089"	"00025608"	"50"	"874"	"0"	"874"	"0"	"c.874C>T"	"r.(?)"	"p.(R292W)"	"6"
"0000060090"	"00025608"	"50"	"1594"	"0"	"1598"	"0"	"c.*360_*364del"	"r.(=)"	"p.(=)"	"8"
"0000060091"	"00025608"	"11"	"119"	"-47"	"119"	"-47"	"c.119-47C>T"	"r.(=)"	"p.(=)"	"1i"
"0000060092"	"00025608"	"11"	"119"	"-28"	"119"	"-13"	"c.119-28_119-13del"	"r.(=)"	"p.(=)"	"1i"
"0000060093"	"00025608"	"99"	"131"	"0"	"131"	"0"	"c.131C>A"	"r.(?)"	"p.(S44*)"	"2"
"0000060094"	"00025608"	"11"	"183"	"0"	"183"	"0"	"c.183C>T"	"r.(?)"	"p.(=)"	"2"
"0000060095"	"00025608"	"11"	"245"	"75"	"245"	"75"	"c.245+75G>A"	"r.(=)"	"p.(=)"	"2i"
"0000060096"	"00025608"	"99"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Cys83Tyr)"	"3"
"0000060097"	"00025608"	"11"	"349"	"8"	"349"	"8"	"c.349+8G>A"	"r.(=)"	"p.(=)"	"3i"
"0000060098"	"00025608"	"50"	"352"	"0"	"352"	"0"	"c.352G>A"	"r.(?)"	"p.(V118M)"	"4"
"0000060099"	"00025608"	"99"	"724"	"0"	"725"	"0"	"c.724_725del"	"r.(?)"	"p.(Ser242GlnfsTer17)"	"5"
"0000060100"	"00025608"	"50"	"829"	"0"	"829"	"0"	"c.829C>T"	"r.(?)"	"p.(=)"	"6"
"0000060101"	"00025608"	"50"	"843"	"0"	"843"	"0"	"c.843C>T"	"r.(?)"	"p.(P281P)"	"6"
"0000060102"	"00025608"	"50"	"899"	"0"	"899"	"0"	"c.899C>T"	"r.(?)"	"p.(T300M)"	"6"
"0000060103"	"00025608"	"11"	"963"	"0"	"963"	"0"	"c.963C>T"	"r.(?)"	"p.(=)"	"7"
"0000060104"	"00025608"	"11"	"1101"	"-87"	"1101"	"-87"	"c.1101-87C>T"	"r.(=)"	"p.(=)"	"7i"
"0000060105"	"00025608"	"11"	"1101"	"-47"	"1101"	"-47"	"c.1101-47G>A"	"r.(=)"	"p.(=)"	"7i"
"0000060106"	"00025608"	"50"	"1124"	"0"	"1124"	"0"	"c.1124T>C"	"r.(?)"	"p.(Leu375Pro)"	"8"
"0000060107"	"00025608"	"50"	"1287"	"0"	"1287"	"0"	"c.*53C>T"	"r.(=)"	"p.(=)"	"8"
"0000060108"	"00025608"	"90"	"947"	"0"	"948"	"0"	"c.947_948="	"r.(=)"	"p.(Asp316=)"	"6"
"0000060109"	"00025608"	"90"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(W32X)"	"1"
"0000060110"	"00025608"	"99"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(G51R)"	"2"
"0000060111"	"00025608"	"99"	"142"	"0"	"142"	"0"	"c.142C>T"	"r.(?)"	"p.(R48C)"	"2"
"0000060112"	"00025608"	"99"	"196"	"0"	"201"	"0"	"c.196_201del"	"r.(?)"	"p.(Gly66_Cys67del)"	"2"
"0000060113"	"00025608"	"99"	"1025"	"0"	"1025"	"0"	"c.1025T>G"	"r.(?)"	"p.(V342G)"	"7"
"0000060114"	"00025608"	"99"	"1120"	"0"	"1120"	"0"	"c.1120C>T"	"r.(?)"	"p.(L374F)"	"8"
"0000060115"	"00025608"	"77"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Cys)"	"4"
"0000060116"	"00025608"	"99"	"1112"	"0"	"1112"	"0"	"c.1112T>G"	"r.(?)"	"p.(Leu371Trp)"	"7"
"0000060117"	"00025608"	"99"	"373"	"0"	"373"	"0"	"c.373C>T"	"r.(?)"	"p.(Arg125*)"	"4"
"0000060118"	"00025608"	"99"	"373"	"0"	"373"	"0"	"c.373C>T"	"r.(?)"	"p.(Arg125*)"	"4"
"0000060119"	"00025608"	"99"	"202"	"0"	"202"	"0"	"c.202A>G"	"r.(?)"	"p.(S68G)"	"2"
"0000060120"	"00025608"	"99"	"143"	"0"	"144"	"0"	"c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA"	"r.(?)"	"p.(Arg48Glnfs66*)"	"2"
"0000079505"	"00025608"	"90"	"-4474001"	"0"	"90291"	"0"	"c.-4474001_*89057del"	"r.0?"	"p.0?"	""
"0000162791"	"00025608"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	"2"
"0000247308"	"00025608"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Lys57Arg)"	""
"0000247350"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	""
"0000254749"	"00025608"	"30"	"25"	"0"	"25"	"0"	"c.25A>G"	"r.(?)"	"p.(Met9Val)"	""
"0000255819"	"00025608"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Lys57Arg)"	""
"0000293243"	"00025608"	"10"	"118"	"226"	"118"	"226"	"c.118+226T>C"	"r.(=)"	"p.(=)"	""
"0000293244"	"00025608"	"10"	"333"	"0"	"333"	"0"	"c.333G>A"	"r.(?)"	"p.(Ala111=)"	""
"0000293245"	"00025608"	"10"	"349"	"7"	"349"	"7"	"c.349+7C>T"	"r.(=)"	"p.(=)"	""
"0000293246"	"00025608"	"10"	"372"	"0"	"372"	"0"	"c.372G>A"	"r.(?)"	"p.(Pro124=)"	""
"0000293247"	"00025608"	"10"	"843"	"0"	"843"	"0"	"c.843C>T"	"r.(?)"	"p.(Pro281=)"	""
"0000293248"	"00025608"	"30"	"900"	"0"	"900"	"0"	"c.900G>A"	"r.(?)"	"p.(Thr300=)"	""
"0000293249"	"00025608"	"50"	"902"	"0"	"902"	"0"	"c.902G>A"	"r.(?)"	"p.(Arg301His)"	""
"0000293250"	"00025608"	"10"	"937"	"0"	"937"	"0"	"c.937T>C"	"r.(?)"	"p.(Leu313=)"	""
"0000304516"	"00025608"	"10"	"245"	"8"	"245"	"8"	"c.245+8C>T"	"r.(=)"	"p.(=)"	""
"0000304517"	"00025608"	"30"	"455"	"0"	"455"	"0"	"c.455C>T"	"r.(?)"	"p.(Pro152Leu)"	""
"0000304518"	"00025608"	"30"	"69"	"0"	"69"	"0"	"c.69C>T"	"r.(?)"	"p.(Ala23=)"	""
"0000304519"	"00025608"	"30"	"94"	"0"	"94"	"0"	"c.94T>G"	"r.(?)"	"p.(Trp32Gly)"	""
"0000304520"	"00025608"	"50"	"953"	"0"	"953"	"0"	"c.953C>T"	"r.(?)"	"p.(Thr318Met)"	""
"0000342781"	"00025608"	"50"	"1153"	"0"	"1153"	"0"	"c.1153C>T"	"r.(?)"	"p.(Arg385Cys)"	""
"0000344778"	"00025608"	"50"	"1037"	"0"	"1037"	"0"	"c.1037A>G"	"r.(?)"	"p.(Gln346Arg)"	""
"0000349136"	"00025608"	"50"	"202"	"0"	"202"	"0"	"c.202A>G"	"r.(?)"	"p.(Ser68Gly)"	""
"0000350767"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	""
"0000358294"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	"1i"
"0000358295"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	"1i"
"0000358296"	"00025608"	"90"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000358297"	"00025608"	"90"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	"2"
"0000358298"	"00025608"	"90"	"747"	"1"	"747"	"1"	"c.747+1G>C"	"r.spl"	"p.?"	"5i"
"0000358299"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000358300"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000358446"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000358447"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000358448"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000358449"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000441239"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000477082"	"00025608"	"50"	"131"	"0"	"131"	"0"	"c.131C>T"	""	"p.?"	""
"0000477083"	"00025608"	"50"	"143"	"0"	"143"	"0"	"c.143G>A"	""	"p.?"	""
"0000477084"	"00025608"	"90"	"151"	"0"	"151"	"0"	"c.151G>A"	""	"p.?"	""
"0000477085"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	""	"p.?"	""
"0000477086"	"00025608"	"90"	"226"	"0"	"226"	"0"	"c.226C>T"	""	"p.?"	""
"0000477087"	"00025608"	"50"	"289"	"0"	"289"	"0"	"c.289C>T"	""	"p.?"	""
"0000477088"	"00025608"	"90"	"311"	"0"	"311"	"0"	"c.311G>A"	""	"p.?"	""
"0000477089"	"00025608"	"50"	"361"	"0"	"361"	"0"	"c.361G>A"	""	"p.?"	""
"0000477090"	"00025608"	"50"	"410"	"0"	"410"	"0"	"c.410C>T"	""	"p.?"	""
"0000477091"	"00025608"	"10"	"419"	"0"	"419"	"0"	"c.419A>G"	""	"p.?"	""
"0000477092"	"00025608"	"50"	"443"	"0"	"443"	"0"	"c.443C>T"	""	"p.?"	""
"0000477093"	"00025608"	"10"	"488"	"0"	"488"	"0"	"c.488T>C"	""	"p.?"	""
"0000477094"	"00025608"	"50"	"489"	"0"	"489"	"0"	"c.489G>A"	""	"p.?"	""
"0000477095"	"00025608"	"50"	"859"	"0"	"859"	"0"	"c.859G>A"	""	"p.?"	""
"0000477096"	"00025608"	"50"	"904"	"0"	"904"	"0"	"c.904G>A"	""	"p.?"	""
"0000477097"	"00025608"	"90"	"1049"	"0"	"1049"	"0"	"c.1049C>T"	"r.(?)"	"p.?"	""
"0000477098"	"00025608"	"50"	"1082"	"0"	"1082"	"0"	"c.1082A>G"	"r.(?)"	"p.?"	""
"0000477588"	"00025608"	"50"	"361"	"0"	"361"	"0"	"c.361G>A"	""	"p.?"	""
"0000477589"	"00025608"	"10"	"419"	"0"	"419"	"0"	"c.419A>G"	""	"p.?"	""
"0000477590"	"00025608"	"10"	"488"	"0"	"488"	"0"	"c.488T>C"	""	"p.?"	""
"0000555275"	"00025608"	"90"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(Trp32Ter)"	""
"0000555276"	"00025608"	"90"	"119"	"-57"	"166"	"0"	"c.119-57_166del"	"r.spl?"	"p.?"	""
"0000555277"	"00025608"	"50"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.(?)"	"p.(Val41Met)"	""
"0000555278"	"00025608"	"50"	"145"	"0"	"145"	"0"	"c.145G>A"	"r.(?)"	"p.(Val49Met)"	""
"0000555279"	"00025608"	"90"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Gly51Arg)"	""
"0000555280"	"00025608"	"50"	"155"	"0"	"155"	"0"	"c.155A>G"	"r.(?)"	"p.(Asp52Gly)"	""
"0000555281"	"00025608"	"50"	"205"	"0"	"205"	"0"	"c.205G>A"	"r.(?)"	"p.(Gly69Ser)"	""
"0000555282"	"00025608"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000555283"	"00025608"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000555284"	"00025608"	"50"	"230"	"0"	"230"	"0"	"c.230G>A"	"r.(?)"	"p.(Arg77Gln)"	""
"0000555285"	"00025608"	"30"	"230"	"0"	"230"	"0"	"c.230G>A"	"r.(?)"	"p.(Arg77Gln)"	""
"0000555287"	"00025608"	"50"	"334"	"0"	"334"	"0"	"c.334G>A"	"r.(?)"	"p.(Gly112Arg)"	""
"0000555288"	"00025608"	"50"	"352"	"0"	"352"	"0"	"c.352G>A"	"r.(?)"	"p.(Val118Met)"	""
"0000555289"	"00025608"	"30"	"372"	"0"	"372"	"0"	"c.372G>A"	"r.(?)"	"p.(Pro124=)"	""
"0000555290"	"00025608"	"90"	"373"	"0"	"373"	"0"	"c.373C>T"	"r.(?)"	"p.(Arg125Ter)"	""
"0000555291"	"00025608"	"90"	"440"	"0"	"474"	"0"	"c.440_474del"	"r.(?)"	"p.(Val147GlyfsTer23)"	""
"0000555292"	"00025608"	"50"	"529"	"0"	"529"	"0"	"c.529C>A"	"r.(?)"	"p.(Leu177Ile)"	""
"0000555293"	"00025608"	"70"	"571"	"2"	"571"	"2"	"c.571+2T>A"	"r.spl?"	"p.?"	""
"0000555294"	"00025608"	"10"	"694"	"0"	"694"	"0"	"c.694G>A"	"r.(?)"	"p.(Val232Ile)"	""
"0000555295"	"00025608"	"90"	"724"	"0"	"725"	"0"	"c.724_725del"	"r.(?)"	"p.(Ser242GlnfsTer17)"	""
"0000555296"	"00025608"	"70"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(Ala256Glu)"	""
"0000555297"	"00025608"	"50"	"919"	"0"	"919"	"0"	"c.919A>C"	"r.(?)"	"p.(Ile307Leu)"	""
"0000555298"	"00025608"	"70"	"926"	"0"	"926"	"0"	"c.926G>T"	"r.(?)"	"p.(Arg309Leu)"	""
"0000555299"	"00025608"	"50"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000555300"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000555301"	"00025608"	"10"	"947"	"0"	"948"	"0"	"c.947_948="	"r.(=)"	"p.(Asp316=)"	""
"0000555302"	"00025608"	"50"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Glu332Lys)"	""
"0000555303"	"00025608"	"50"	"998"	"0"	"998"	"0"	"c.998C>T"	"r.(?)"	"p.(Thr333Met)"	""
"0000555304"	"00025608"	"10"	"1005"	"0"	"1005"	"0"	"c.1005C>A"	"r.(?)"	"p.(Gly335=)"	""
"0000555305"	"00025608"	"50"	"1058"	"0"	"1058"	"0"	"c.1058T>G"	"r.(?)"	"p.(Leu353Arg)"	""
"0000555306"	"00025608"	"50"	"1095"	"0"	"1095"	"0"	"c.1095C>G"	"r.(?)"	"p.(Pro365=)"	""
"0000555307"	"00025608"	"70"	"1112"	"0"	"1112"	"0"	"c.1112T>G"	"r.(?)"	"p.(Leu371Trp)"	""
"0000555308"	"00025608"	"50"	"1127"	"0"	"1127"	"0"	"c.1127C>G"	"r.(?)"	"p.(Pro376Arg)"	""
"0000555309"	"00025608"	"90"	"1171"	"0"	"1172"	"0"	"c.1171_1172del"	"r.(?)"	"p.(Phe391ProfsTer15)"	""
"0000555310"	"00025608"	"50"	"1186"	"0"	"1186"	"0"	"c.1186G>A"	"r.(?)"	"p.(Gly396Arg)"	""
"0000555311"	"00025608"	"50"	"1198"	"0"	"1198"	"0"	"c.1198A>G"	"r.(?)"	"p.(Met400Val)"	""
"0000615484"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	""
"0000615485"	"00025608"	"50"	"289"	"0"	"289"	"0"	"c.289C>T"	"r.(?)"	"p.(Arg97Cys)"	""
"0000615486"	"00025608"	"10"	"694"	"0"	"694"	"0"	"c.694G>A"	"r.(?)"	"p.(Val232Ile)"	""
"0000615487"	"00025608"	"50"	"743"	"0"	"743"	"0"	"c.743A>T"	"r.(?)"	"p.(Asp248Val)"	""
"0000623288"	"00025608"	"30"	"245"	"9"	"245"	"9"	"c.245+9G>A"	"r.(=)"	"p.(=)"	""
"0000649147"	"00025608"	"70"	"373"	"0"	"373"	"0"	"c.373C>T"	""	"p.?"	""
"0000659525"	"00025608"	"90"	"406"	"0"	"406"	"0"	"c.406G>T"	"r.(?)"	"p.(Glu136Ter)"	""
"0000664770"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000664771"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000680267"	"00025608"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000683267"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(?)"	"p.(?)"	""
"0000683268"	"00025608"	"70"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Gly51Arg)"	""
"0000684793"	"00025608"	"30"	"361"	"0"	"361"	"0"	"c.361G>A"	""	"p.?"	""
"0000685302"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000685303"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000685304"	"00025608"	"90"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	""
"0000685305"	"00025608"	"70"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0000685306"	"00025608"	"70"	"352"	"0"	"352"	"0"	"c.352G>A"	"r.(?)"	"p.(Val118Met)"	""
"0000685308"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000685309"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000685310"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000685311"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000685312"	"00025608"	"90"	"1038"	"0"	"1038"	"0"	"c.1038G>C"	"r.(?)"	"p.(Gln346His)"	""
"0000685313"	"00025608"	"90"	"1038"	"0"	"1038"	"0"	"c.1038G>C"	"r.(?)"	"p.(Gln346His)"	""
"0000685835"	"00025608"	"50"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Arg142Trp)"	""
"0000686045"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000691843"	"00025608"	"50"	"155"	"0"	"155"	"0"	"c.155A>G"	"r.(?)"	"p.(Asp52Gly)"	""
"0000691844"	"00025608"	"50"	"800"	"0"	"800"	"0"	"c.800A>G"	"r.(?)"	"p.(Gln267Arg)"	""
"0000710220"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000710303"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000713274"	"00025608"	"90"	"311"	"0"	"311"	"0"	"c.311G>A"	""	"p.?"	""
"0000713587"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	""
"0000713677"	"00025608"	"90"	"305"	"0"	"305"	"0"	"c.305C>A"	""	"p.?"	""
"0000713692"	"00025608"	"90"	"767"	"0"	"767"	"0"	"c.767C>A"	""	"p.?"	""
"0000725278"	"00025608"	"30"	"135"	"0"	"135"	"0"	"c.135C>A"	"r.(?)"	"p.(Leu45=)"	""
"0000725279"	"00025608"	"50"	"1221"	"0"	"1221"	"0"	"c.1221G>A"	"r.(?)"	"p.(Met407Ile)"	""
"0000729756"	"00025608"	"70"	"223"	"0"	"223"	"0"	"c.223G>A"	"r.(?)"	"p.(Val75Ile)"	""
"0000730996"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000730997"	"00025608"	"70"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(Ala256Glu)"	""
"0000730998"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000731058"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000731061"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000731549"	"00025608"	"90"	"352"	"0"	"352"	"0"	"c.352G>A"	"r.(?)"	"p.(Val118Met)"	""
"0000732441"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000733085"	"00025608"	"70"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161Hisfs*18)"	""
"0000733145"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000733229"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000733230"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000733231"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000733544"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000733590"	"00025608"	"70"	"305"	"0"	"305"	"0"	"c.305C>A"	"r.(?)"	"p.(Ala102Asp)"	""
"0000733647"	"00025608"	"70"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Trp)"	""
"0000733648"	"00025608"	"70"	"219"	"0"	"219"	"0"	"c.219G>C"	"r.(?)"	"p.(Arg73Ser)"	""
"0000734411"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000734685"	"00025608"	"50"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Arg142Trp)"	""
"0000735632"	"00025608"	"90"	"1171"	"0"	"1172"	"0"	"c.1171_1172del"	"r.(?)"	"p.(Phe391Profs*15)"	""
"0000735633"	"00025608"	"90"	"724"	"0"	"725"	"0"	"c.724_725del"	"r.(?)"	"p.(Ser242Glnfs*17)"	""
"0000735747"	"00025608"	"90"	"1171"	"0"	"1172"	"0"	"c.1171_1172del"	"r.(?)"	"p.(Phe391Profs*15)"	""
"0000735748"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000735993"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000736349"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000736350"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000759579"	"00025608"	"90"	"328"	"0"	"328"	"0"	"c.328dup"	""	"p.?"	""
"0000760245"	"00025608"	"50"	"191"	"0"	"191"	"0"	"c.191G>T"	"r.(?)"	"p.(Cys64Phe)"	""
"0000760468"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000760648"	"00025608"	"90"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	""
"0000760670"	"00025608"	"90"	"967"	"0"	"967"	"0"	"c.967dup"	"r.(?)"	"p.(Met323AsnfsTer18)"	""
"0000764877"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000765250"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000765563"	"00025608"	"90"	"995"	"-2"	"995"	"-2"	"c.995-2A>C"	"p.?"	"p.?"	""
"0000765600"	"00025608"	"90"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Trp)"	""
"0000765767"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000765770"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000765774"	"00025608"	"70"	"926"	"0"	"926"	"0"	"c.926G>T"	"r.(?)"	"p.(Arg309Leu)"	""
"0000765777"	"00025608"	"70"	"646"	"0"	"646"	"0"	"c.646G>A"	"r.(?)"	"p.(Gly216Ser)"	""
"0000765795"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000765883"	"00025608"	"70"	"373"	"0"	"373"	"0"	"c.373C>T"	"r.(?)"	"p.(Arg125Ter)"	""
"0000766053"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	"1i"
"0000766054"	"00025608"	"90"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.(?)"	"p.(Asn65_Cys67del)"	""
"0000766055"	"00025608"	"90"	"747"	"1"	"747"	"1"	"c.747+1G>C"	"r.spl"	"p.?"	""
"0000784187"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>C"	"r.(?)"	"p.(Gly56Arg)"	""
"0000784188"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>C"	"r.(?)"	"p.(Gly56Arg)"	""
"0000785405"	"00025608"	"90"	"119"	"-57"	"166"	"0"	"c.119-57_166del"	"r.spl"	"p.?"	""
"0000785413"	"00025608"	"90"	"1095"	"0"	"1095"	"0"	"c.1095C>G"	"r.spl"	"p.?"	""
"0000786308"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000787665"	"00025608"	"70"	"290"	"0"	"290"	"0"	"c.290G>A"	"r.(?)"	"p.(Arg97His)"	""
"0000788141"	"00025608"	"70"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Cys)"	""
"0000788425"	"00025608"	"50"	"410"	"0"	"410"	"0"	"c.410C>T"	"r.(?)"	"p.(Ser137Phe)"	"4"
"0000790434"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000790478"	"00025608"	"50"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000790490"	"00025608"	"50"	"131"	"0"	"131"	"0"	"c.131C>T"	"r.(?)"	"p.(Ser44Leu)"	""
"0000790541"	"00025608"	"50"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(Ala256Glu)"	""
"0000791167"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	"1i"
"0000791218"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	"2"
"0000791434"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000791435"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000791436"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000791437"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000791438"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000791439"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000791440"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000792209"	"00025608"	"90"	"1025"	"0"	"1025"	"0"	"c.1025T>G"	"r.(?)"	"p.(Val342Gly)"	"7"
"0000792210"	"00025608"	"90"	"1025"	"0"	"1025"	"0"	"c.1025T>G"	"r.(?)"	"p.(Val342Gly)"	"7"
"0000792211"	"00025608"	"90"	"1025"	"0"	"1025"	"0"	"c.1025T>G"	"r.(?)"	"p.(Val342Gly)"	"7"
"0000792212"	"00025608"	"90"	"1025"	"0"	"1025"	"0"	"c.1025T>G"	"r.(?)"	"p.(Val342Gly)"	"7"
"0000792213"	"00025608"	"90"	"1025"	"0"	"1025"	"0"	"c.1025T>G"	"r.(?)"	"p.(Val342Gly)"	"7"
"0000792245"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.?"	"p.?"	"2"
"0000793727"	"00025608"	"90"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.?"	"p.?"	"3"
"0000793728"	"00025608"	"50"	"724"	"0"	"725"	"0"	"c.724_725del"	"r.(?)"	"p.?"	"5"
"0000793729"	"00025608"	"50"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000793973"	"00025608"	"90"	"143"	"0"	"144"	"0"	"c.143_144delGCins25"	"r.(?)"	"p.?"	"2"
"0000793974"	"00025608"	"90"	"143"	"0"	"144"	"0"	"c.143_144delGCins25"	"r.(?)"	"p.?"	"2"
"0000794011"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>M"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000794012"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>M"	"r.(?)"	"p.(Gly56Arg)"	""
"0000794728"	"00025608"	"70"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311Trp)"	""
"0000794731"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000794745"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000794817"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000794982"	"00025608"	"50"	"951"	"0"	"951"	"0"	"c.951del"	"r.(?)"	"p.(Thr318Argfs*6)"	"6"
"0000794983"	"00025608"	"50"	"951"	"0"	"951"	"0"	"c.951del"	"r.(?)"	"p.(Thr318Argfs*6)"	"6"
"0000795070"	"00025608"	"90"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Cys)"	"4"
"0000795071"	"00025608"	"90"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Cys)"	"4"
"0000796004"	"00025608"	"50"	"352"	"0"	"352"	"0"	"c.352G>C"	"r.(?)"	"p.(Val118Leu)"	"4"
"0000796272"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000796845"	"00025608"	"70"	"694"	"0"	"694"	"0"	"c.694G>A"	"r.?"	"p.?"	"5"
"0000796972"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.?"	"p.?"	"2"
"0000797083"	"00025608"	"70"	"309"	"0"	"309"	"0"	"c.309C>A"	"r.(?)"	"p.(Cys103*)"	"3"
"0000797084"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	"2"
"0000797085"	"00025608"	"90"	"1049"	"0"	"1049"	"0"	"c.1049A>G"	"r.(?)"	"p.(Gln350Arg)"	"8"
"0000797122"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	"2"
"0000797157"	"00025608"	"50"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	"2"
"0000797699"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000797700"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000797702"	"00025608"	"70"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161Hisfs*18)"	""
"0000797703"	"00025608"	"70"	"554"	"0"	"554"	"0"	"c.554del"	"r.(?)"	"p.(Lys185Serfs*66)"	""
"0000797704"	"00025608"	"70"	"626"	"0"	"626"	"0"	"c.626dup"	"r.(?)"	"p.(Tyr209*)$"	""
"0000797705"	"00025608"	"70"	"646"	"0"	"646"	"0"	"c.646G>A"	"r.(?)"	"p.(Gly216Ser)"	""
"0000797706"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000797707"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000798496"	"00025608"	"90"	"118"	"-2"	"118"	"-2"	"c.118-2A>C"	"r.(?)"	"p.?"	"1"
"0000798502"	"00025608"	"90"	"118"	"-2"	"118"	"-2"	"c.118-2A>C"	"r.(?)"	"p.?"	"1"
"0000806889"	"00025608"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Ala117Thr)"	""
"0000806890"	"00025608"	"10"	"947"	"0"	"948"	"0"	"c.947_948="	"r.(=)"	"p.(Asp316=)"	""
"0000806891"	"00025608"	"30"	"1176"	"0"	"1176"	"0"	"c.1176C>T"	"r.(?)"	"p.(Arg392=)"	""
"0000811434"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000811435"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000811840"	"00025608"	"70"	"1184"	"0"	"1184"	"0"	"c.1184T>C"	"r.(?)"	"p.(Ile395Thr)"	""
"0000812179"	"00025608"	"70"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Gly51Arg)"	"2"
"0000812180"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000812236"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(?)"	"p.(?)"	"1i"
"0000812301"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000812306"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000812318"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	"2"
"0000812321"	"00025608"	"70"	"352"	"0"	"352"	"0"	"c.352G>A"	"r.(?)"	"p.(Val118Met)"	"4"
"0000812334"	"00025608"	"70"	"731"	"0"	"731"	"0"	"c.731del"	"r.(?)"	"p.(Leu244Argfs*7)"	"5"
"0000812337"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(?)"	"p.(?)"	"1i"
"0000812348"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"6"
"0000812382"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(?)"	"p.(?)"	"1i"
"0000812383"	"00025608"	"70"	"309"	"0"	"309"	"0"	"c.309C>A"	"r.(?)"	"p.(Cys103*)"	"3"
"0000812400"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.(?)"	"p.(?)"	"1i"
"0000812419"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	"2"
"0000812439"	"00025608"	"70"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Gly51Arg)"	"2"
"0000813210"	"00025608"	"30"	"197"	"0"	"197"	"0"	"c.197G>C"	"r.?"	"p.?"	"2"
"0000815932"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000815971"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000815986"	"00025608"	"70"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(Ala256Glu)"	""
"0000816018"	"00025608"	"70"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Trp)"	""
"0000816051"	"00025608"	"90"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0000816124"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000816157"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000816163"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000816282"	"00025608"	"50"	"349"	"2"	"349"	"2"	"c.349+2T>G"	"r.spl"	"p.(?)"	""
"0000816284"	"00025608"	"50"	"349"	"2"	"349"	"2"	"c.349+2T>G"	"r.spl"	"p.(?)"	""
"0000816321"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000816330"	"00025608"	"70"	"767"	"0"	"767"	"0"	"c.767C>A"	"r.(?)"	"p.(Ala256Glu)"	""
"0000816361"	"00025608"	"70"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Cys)"	""
"0000816440"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000816543"	"00025608"	"50"	"349"	"2"	"349"	"2"	"c.349+2T>G"	"r.spl"	"p.(?)"	""
"0000817495"	"00025608"	"50"	"166"	"0"	"166"	"0"	"c.166G>M"	"r.?"	"p.?"	"2"
"0000817691"	"00025608"	"70"	"767"	"0"	"767"	"0"	"c.767C>T"	"r.(?)"	"p.(Ala256Val)"	""
"0000817692"	"00025608"	"70"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Gln)"	""
"0000818490"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000818491"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000818492"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000818500"	"00025608"	"90"	"305"	"0"	"305"	"0"	"c.305C>A"	"r.(?)"	"p.(Ala102Asp)"	""
"0000818501"	"00025608"	"90"	"797"	"0"	"797"	"0"	"c.797T>A"	"r.(?)"	"p.(Ile266Asn)"	""
"0000819305"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819306"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819338"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819339"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819340"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819341"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819342"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819343"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819639"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000819640"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000819669"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000819840"	"00025608"	"70"	"563"	"0"	"563"	"0"	"c.563C>G"	"r.(?)"	"p.(Pro188Arg)"	""
"0000820002"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820003"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820059"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820060"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820148"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000820196"	"00025608"	"70"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161Hisfs*18)"	""
"0000820235"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820240"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820444"	"00025608"	"70"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161Hisfs*18)"	""
"0000820481"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820488"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000820544"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000820838"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000820848"	"00025608"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Gln110*)"	""
"0000820849"	"00025608"	"70"	"406"	"0"	"406"	"0"	"c.406G>T"	"r.(?)"	"p.(Glu136*)"	""
"0000820916"	"00025608"	"70"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311Trp)"	""
"0000820966"	"00025608"	"70"	"994"	"0"	"994"	"0"	"c.994G>C"	"r.(?)"	"p.(Glu332Gln)"	""
"0000821312"	"00025608"	"70"	"1025"	"0"	"1025"	"0"	"c.1025T>C"	"r.(?)"	"p.(Val342Ala)"	""
"0000821313"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000821314"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	""
"0000821315"	"00025608"	"70"	"305"	"0"	"305"	"0"	"c.305C>A"	"r.(?)"	"p.(Ala102Asp)"	""
"0000821584"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>G"	"r.spl"	"p.(?)"	""
"0000822090"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.?"	"6"
"0000822949"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000823566"	"00025608"	"90"	"1100"	"1124"	"1100"	"1124"	"c.1100+1124G>A"	"r.spl"	"p.(?)"	"c.1100+1124G>A"
"0000823571"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.(?)"	"c.119-2A>C"
"0000827130"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.?"	"p.?"	"2"
"0000827131"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.?"	"p.?"	"2"
"0000829791"	"00025608"	"70"	"994"	"0"	"994"	"0"	"c.994G>T"	"r.(?)"	"p.(Glu332*)"	""
"0000829811"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000834071"	"00025608"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000846463"	"00025608"	"70"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000854148"	"00025608"	"50"	"131"	"0"	"131"	"0"	"c.131C>T"	"r.(?)"	"p.(Ser44Leu)"	""
"0000854149"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000854150"	"00025608"	"30"	"273"	"0"	"273"	"0"	"c.273C>T"	"r.(?)"	"p.(Pro91=)"	""
"0000854151"	"00025608"	"50"	"640"	"0"	"640"	"0"	"c.640C>G"	"r.(?)"	"p.(Pro214Ala)"	""
"0000863945"	"00025608"	"70"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(Trp32Ter)"	""
"0000863946"	"00025608"	"30"	"1062"	"0"	"1062"	"0"	"c.1062C>G"	"r.(?)"	"p.(Ser354Arg)"	""
"0000869572"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869573"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869574"	"00025608"	"90"	"1117"	"0"	"1117"	"0"	"c.1117A>G"	"r.?"	"p.?"	"8"
"0000869575"	"00025608"	"90"	"1117"	"0"	"1117"	"0"	"c.1117A>G"	"r.?"	"p.?"	"8"
"0000869576"	"00025608"	"90"	"305"	"0"	"305"	"0"	"c.305C>A"	"r.?"	"p.(Ala102Asp)"	"3"
"0000869577"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869578"	"00025608"	"90"	"808"	"0"	"809"	"0"	"c.808_809del"	"r.?"	"p.(Leu270Alafs*70)"	"6"
"0000869579"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869580"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869581"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869582"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869583"	"00025608"	"70"	"919"	"0"	"920"	"0"	"c.919_920del"	"r.?"	"p.(Ile307Leufs*33)"	"6"
"0000869584"	"00025608"	"70"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.?"	"p.(Arg104Gln)"	"3"
"0000869585"	"00025608"	"90"	"790"	"0"	"790"	"0"	"c.790G>A"	"r.?"	"p.(Gly264Arg)"	"6"
"0000869586"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869588"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869589"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869590"	"00025608"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.?"	"p.(Leu336Pro)"	"7"
"0000869591"	"00025608"	"90"	"196"	"0"	"201"	"0"	"c.196_201del"	"r.?"	"p.(Gly66_Cys67del)"	"2"
"0000869592"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869593"	"00025608"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.?"	"p.(Leu336Pro)"	"7"
"0000869594"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869595"	"00025608"	"90"	"211"	"0"	"213"	"0"	"c.211_213del"	"r.?"	"p.(Phe71del)"	"2"
"0000869596"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869597"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869598"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869599"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869600"	"00025608"	"90"	"1220"	"0"	"1220"	"0"	"c.1220T>A"	"r.?"	"p.(Met407Lys)"	"8"
"0000869601"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869602"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869603"	"00025608"	"90"	"788"	"0"	"788"	"0"	"c.788T>C"	"r.?"	"p.(Leu263Pro)"	"6"
"0000869604"	"00025608"	"90"	"925"	"0"	"925"	"0"	"c.925C>G"	"r.?"	"p.(Arg309Gly)"	"6"
"0000869605"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869606"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869607"	"00025608"	"90"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.?"	"p.?"	"3"
"0000869608"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869609"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869610"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869611"	"00025608"	"90"	"701"	"0"	"701"	"0"	"c.701G>A"	"r.?"	"p.(Trp234*)"	"5"
"0000869612"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869613"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869614"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869615"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869616"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869617"	"00025608"	"90"	"290"	"0"	"290"	"0"	"c.290G>A"	"r.?"	"p.(Arg97His)"	"3"
"0000869618"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869619"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869620"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869621"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869622"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869623"	"00025608"	"90"	"1095"	"0"	"1095"	"0"	"c.1095C>G"	"r.?"	"p.(=)"	"7"
"0000869624"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869625"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869626"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869627"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869628"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869629"	"00025608"	"90"	"1095"	"0"	"1095"	"0"	"c.1095C>G"	"r.?"	"p.(=)"	"7"
"0000869630"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869631"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869632"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869633"	"00025608"	"90"	"767"	"0"	"767"	"0"	"c.767C>T"	"r.?"	"p.(Ala256Val)"	"6"
"0000869634"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869635"	"00025608"	"90"	"788"	"0"	"788"	"0"	"c.788T>C"	"r.?"	"p.(Leu263Pro)"	"6"
"0000869636"	"00025608"	"90"	"290"	"0"	"290"	"0"	"c.290G>A"	"r.?"	"p.(Arg97His)"	"3"
"0000869637"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869638"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869639"	"00025608"	"90"	"194"	"0"	"202"	"0"	"c.194_202del"	"r.?"	"p.(Asn65_Cys67del)"	"2"
"0000869640"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869641"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869642"	"00025608"	"90"	"1118"	"0"	"1118"	"0"	"c.1118T>C"	"r.?"	"p.(Leu373Pro)"	"8"
"0000869643"	"00025608"	"90"	"349"	"5"	"349"	"5"	"c.349+5G>C"	"r.spl?"	"p.?"	"3i"
"0000869644"	"00025608"	"70"	"473"	"0"	"473"	"0"	"c.473G>A"	"r.?"	"p.(Arg158Gln)"	"4"
"0000869645"	"00025608"	"70"	"1004"	"0"	"1004"	"0"	"c.1004G>A"	"r.?"	"p.(Gly335Asp)"	"7"
"0000869646"	"00025608"	"70"	"1225"	"0"	"1225"	"0"	"c.1225A>G"	"r.?"	"p.(Lys409Glu)"	"8"
"0000869647"	"00025608"	"70"	"473"	"0"	"473"	"0"	"c.473G>A"	"r.?"	"p.(Arg158Gln)"	"4"
"0000869648"	"00025608"	"70"	"1004"	"0"	"1004"	"0"	"c.1004G>A"	"r.?"	"p.(Gly335Asp)"	"7"
"0000869649"	"00025608"	"70"	"1225"	"0"	"1225"	"0"	"c.1225A>G"	"r.?"	"p.(Lys409Glu)"	"8"
"0000869650"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.?"	"p.(Arg76Gln)"	"2"
"0000869651"	"00025608"	"70"	"349"	"5"	"349"	"5"	"c.349+5G>C"	"r.spl?"	"p.?"	"3i"
"0000869652"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869653"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869654"	"00025608"	"70"	"1223"	"0"	"1223"	"0"	"c.1223del"	"r.?"	"p.(Phe408Serfs*70)"	"8"
"0000869655"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869656"	"00025608"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.?"	"p.(Gln110*)"	"3"
"0000869657"	"00025608"	"70"	"349"	"5"	"349"	"5"	"c.349+5G>C"	"r.spl?"	"p.?"	"3i"
"0000869658"	"00025608"	"70"	"1118"	"0"	"1118"	"0"	"c.1118T>C"	"r.?"	"p.(Leu373Pro)"	"8"
"0000869659"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869660"	"00025608"	"70"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.?"	"1i"
"0000869661"	"00025608"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000869662"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.?"	"p.(Arg76Gln)"	"2"
"0000869663"	"00025608"	"70"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.?"	"p.(Arg122Cys)"	"4"
"0000869664"	"00025608"	"90"	"755"	"0"	"755"	"0"	"c.755T>C"	"r.?"	"p.(Leu252Pro)"	"6"
"0000892224"	"00025608"	"30"	"858"	"0"	"858"	"0"	"c.858C>T"	"r.(?)"	"p.(Ala286=)"	""
"0000892225"	"00025608"	"50"	"925"	"0"	"925"	"0"	"c.925C>T"	"r.(?)"	"p.(Arg309Trp)"	""
"0000892226"	"00025608"	"50"	"1049"	"0"	"1049"	"0"	"c.1049A>G"	"r.(?)"	"p.(Gln350Arg)"	""
"0000915953"	"00025608"	"50"	"1048"	"0"	"1048"	"0"	"c.1048C>G"	"r.?"	"p.(Gln350Glu)"	"7"
"0000915985"	"00025608"	"70"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.?"	"p.(Arg311Trp)"	"6"
"0000916051"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.?"	"p.(Gly56Arg)"	"2"
"0000916081"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000916337"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl?"	"p.(?)"	"1i"
"0000916338"	"00025608"	"50"	"968"	"0"	"968"	"0"	"c.968T>C"	"r.(?)"	"p.(Met323Thr)"	"6"
"0000916677"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.?"	"p.(Arg311Gln)"	"6"
"0000950433"	"00025608"	"30"	"245"	"8"	"245"	"8"	"c.245+8C>T"	"r.(=)"	"p.(=)"	""
"0000957989"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0000958037"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000958038"	"00025608"	"90"	"119"	"-2"	"119"	"-2"	"c.119-2A>C"	"r.spl"	"p.?"	""
"0000958277"	"00025608"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000958350"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000958354"	"00025608"	"70"	"263"	"0"	"263"	"0"	"c.263G>T"	"r.(?)"	"p.(Gly88Val)"	""
"0000958413"	"00025608"	"70"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000958593"	"00025608"	"90"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Cys83Tyr)"	""
"0000958639"	"00025608"	"90"	"406"	"0"	"406"	"0"	"c.406G>T"	"r.(?)"	"p.(Glu136Ter)"	""
"0000958644"	"00025608"	"90"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161HisfsTer18)"	""
"0000958847"	"00025608"	"70"	"1171"	"0"	"1172"	"0"	"c.1171_1172del"	"r.(?)"	"p.(Phe391ProfsTer15)"	""
"0000959030"	"00025608"	"90"	"481"	"0"	"481"	"0"	"c.481del"	"r.(?)"	"p.(Thr161HisfsTer18)"	""
"0000959058"	"00025608"	"90"	"926"	"0"	"926"	"0"	"c.926G>T"	"r.(?)"	"p.(Arg309Leu)"	""
"0000959280"	"00025608"	"50"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Gly51Arg)"	""
"0000967914"	"00025608"	"90"	"724"	"0"	"725"	"0"	"c.724_725del"	"r.(?)"	"p.(Ser242GlnfsTer17)"	""
"0000981386"	"00025608"	"50"	"998"	"0"	"998"	"0"	"c.998C>T"	"r.(?)"	"p.(Thr333Met)"	""
"0001015231"	"00025608"	"50"	"1097"	"0"	"1097"	"0"	"c.1097G>A"	"r.(?)"	"p.?"	""
"0001022271"	"00025608"	"90"	"166"	"0"	"166"	"0"	"c.166G>A"	"r.(?)"	"p.(Gly56Arg)"	""
"0001040532"	"00025608"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Lys57Arg)"	""
"0001040533"	"00025608"	"50"	"902"	"0"	"902"	"0"	"c.902G>A"	"r.(?)"	"p.(Arg301His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 534
"{{screeningid}}"	"{{variantid}}"
"0000032791"	"0000059952"
"0000032792"	"0000059953"
"0000032793"	"0000059954"
"0000032794"	"0000059955"
"0000032795"	"0000059956"
"0000032796"	"0000059957"
"0000032797"	"0000059958"
"0000032798"	"0000059959"
"0000032799"	"0000059960"
"0000032800"	"0000059961"
"0000032801"	"0000059983"
"0000032802"	"0000059984"
"0000032803"	"0000059985"
"0000032804"	"0000059986"
"0000032805"	"0000059987"
"0000032806"	"0000059988"
"0000032807"	"0000059990"
"0000032808"	"0000059993"
"0000032809"	"0000059997"
"0000032810"	"0000059999"
"0000032811"	"0000060000"
"0000032812"	"0000060001"
"0000032813"	"0000060002"
"0000032814"	"0000060003"
"0000032815"	"0000060004"
"0000032816"	"0000060005"
"0000032817"	"0000060006"
"0000032818"	"0000060007"
"0000032819"	"0000060008"
"0000032820"	"0000060009"
"0000032821"	"0000060010"
"0000032822"	"0000060026"
"0000032823"	"0000060027"
"0000032824"	"0000060028"
"0000032825"	"0000060029"
"0000032826"	"0000059962"
"0000032826"	"0000060030"
"0000032827"	"0000059963"
"0000032827"	"0000060031"
"0000032828"	"0000059964"
"0000032828"	"0000060035"
"0000032829"	"0000059965"
"0000032829"	"0000059989"
"0000032830"	"0000059966"
"0000032830"	"0000059991"
"0000032831"	"0000059967"
"0000032831"	"0000059994"
"0000032832"	"0000059968"
"0000032832"	"0000060036"
"0000032833"	"0000059969"
"0000032833"	"0000060037"
"0000032834"	"0000059970"
"0000032834"	"0000060038"
"0000032835"	"0000059971"
"0000032835"	"0000060039"
"0000032836"	"0000059972"
"0000032836"	"0000060040"
"0000032837"	"0000059973"
"0000032837"	"0000060011"
"0000032838"	"0000059974"
"0000032838"	"0000060012"
"0000032839"	"0000059975"
"0000032839"	"0000060013"
"0000032840"	"0000059976"
"0000032840"	"0000060014"
"0000032841"	"0000059977"
"0000032841"	"0000060041"
"0000032842"	"0000059978"
"0000032842"	"0000060042"
"0000032843"	"0000060043"
"0000032844"	"0000060044"
"0000032845"	"0000060045"
"0000032846"	"0000060046"
"0000032847"	"0000060015"
"0000032847"	"0000060047"
"0000032848"	"0000060016"
"0000032848"	"0000060032"
"0000032849"	"0000060017"
"0000032849"	"0000060033"
"0000032850"	"0000060018"
"0000032850"	"0000060055"
"0000032851"	"0000060056"
"0000032851"	"0000060058"
"0000032852"	"0000059995"
"0000032852"	"0000060059"
"0000032853"	"0000060060"
"0000032854"	"0000060019"
"0000032854"	"0000060061"
"0000032855"	"0000059998"
"0000032855"	"0000060020"
"0000032856"	"0000060021"
"0000032856"	"0000060062"
"0000032857"	"0000060022"
"0000032858"	"0000060063"
"0000032859"	"0000060065"
"0000032860"	"0000060066"
"0000032861"	"0000060067"
"0000032862"	"0000060068"
"0000032863"	"0000060069"
"0000032864"	"0000060070"
"0000032865"	"0000060071"
"0000032866"	"0000060072"
"0000032867"	"0000060073"
"0000032868"	"0000060074"
"0000032869"	"0000060075"
"0000032870"	"0000060076"
"0000032871"	"0000060077"
"0000032872"	"0000060078"
"0000032873"	"0000060079"
"0000032874"	"0000060080"
"0000032875"	"0000060081"
"0000032876"	"0000060082"
"0000032877"	"0000060083"
"0000032878"	"0000060084"
"0000032879"	"0000060085"
"0000032880"	"0000060086"
"0000032881"	"0000060087"
"0000032882"	"0000060088"
"0000032883"	"0000060089"
"0000032884"	"0000060090"
"0000032900"	"0000060091"
"0000032901"	"0000060092"
"0000032902"	"0000059979"
"0000032903"	"0000060093"
"0000032904"	"0000060048"
"0000032905"	"0000060094"
"0000032906"	"0000060095"
"0000032907"	"0000060096"
"0000032908"	"0000059992"
"0000032909"	"0000060097"
"0000032910"	"0000060098"
"0000032911"	"0000060064"
"0000032912"	"0000060099"
"0000032913"	"0000060100"
"0000032914"	"0000060101"
"0000032915"	"0000060102"
"0000032916"	"0000060103"
"0000032917"	"0000060104"
"0000032918"	"0000060105"
"0000032919"	"0000060106"
"0000032920"	"0000060107"
"0000033220"	"0000060109"
"0000033414"	"0000060108"
"0000033685"	"0000060110"
"0000033686"	"0000060057"
"0000033686"	"0000060111"
"0000033687"	"0000059980"
"0000033687"	"0000060034"
"0000033688"	"0000060112"
"0000033689"	"0000060113"
"0000033690"	"0000059996"
"0000033690"	"0000060114"
"0000033691"	"0000060115"
"0000033692"	"0000060023"
"0000033692"	"0000060116"
"0000033693"	"0000059981"
"0000033693"	"0000060117"
"0000033694"	"0000059982"
"0000033694"	"0000060119"
"0000033695"	"0000060024"
"0000033696"	"0000060118"
"0000033697"	"0000060049"
"0000033698"	"0000060050"
"0000033699"	"0000060051"
"0000033700"	"0000060052"
"0000033701"	"0000060053"
"0000033702"	"0000060054"
"0000033703"	"0000060120"
"0000033704"	"0000060025"
"0000050525"	"0000079505"
"0000100492"	"0000162791"
"0000156372"	"0000358294"
"0000156373"	"0000358295"
"0000156373"	"0000358446"
"0000156374"	"0000358296"
"0000156374"	"0000358447"
"0000156375"	"0000358297"
"0000156376"	"0000358298"
"0000156376"	"0000358448"
"0000156377"	"0000358299"
"0000156377"	"0000358449"
"0000156378"	"0000358300"
"0000210062"	"0000441239"
"0000234374"	"0000477082"
"0000234375"	"0000477083"
"0000234376"	"0000477084"
"0000234377"	"0000477085"
"0000234378"	"0000477086"
"0000234379"	"0000477087"
"0000234380"	"0000477088"
"0000234381"	"0000477089"
"0000234382"	"0000477090"
"0000234383"	"0000477091"
"0000234384"	"0000477092"
"0000234385"	"0000477093"
"0000234386"	"0000477094"
"0000234387"	"0000477095"
"0000234388"	"0000477096"
"0000234389"	"0000477097"
"0000234390"	"0000477098"
"0000234880"	"0000477588"
"0000234881"	"0000477589"
"0000234882"	"0000477590"
"0000292458"	"0000649147"
"0000296875"	"0000659525"
"0000301720"	"0000664770"
"0000301721"	"0000664771"
"0000308834"	"0000683267"
"0000308834"	"0000683268"
"0000309891"	"0000684793"
"0000310391"	"0000685302"
"0000310392"	"0000685303"
"0000310393"	"0000685304"
"0000310394"	"0000685305"
"0000310394"	"0000686045"
"0000310395"	"0000685306"
"0000310397"	"0000685308"
"0000310398"	"0000685309"
"0000310399"	"0000685310"
"0000310400"	"0000685311"
"0000310401"	"0000685312"
"0000310402"	"0000685313"
"0000310813"	"0000685835"
"0000326628"	"0000710220"
"0000326711"	"0000710303"
"0000329151"	"0000713274"
"0000329151"	"0000713692"
"0000329464"	"0000713587"
"0000329554"	"0000713677"
"0000332501"	"0000729756"
"0000333421"	"0000730996"
"0000333421"	"0000731058"
"0000333422"	"0000730997"
"0000333422"	"0000731061"
"0000333423"	"0000730998"
"0000333759"	"0000731549"
"0000334585"	"0000732441"
"0000335076"	"0000733085"
"0000335076"	"0000733544"
"0000335136"	"0000733145"
"0000335136"	"0000733590"
"0000335220"	"0000733229"
"0000335220"	"0000733647"
"0000335221"	"0000733230"
"0000335222"	"0000733231"
"0000335222"	"0000733648"
"0000335693"	"0000734411"
"0000335786"	"0000734685"
"0000336357"	"0000735632"
"0000336357"	"0000735747"
"0000336358"	"0000735633"
"0000336358"	"0000735748"
"0000336568"	"0000735993"
"0000336813"	"0000736349"
"0000336814"	"0000736350"
"0000359948"	"0000759579"
"0000360353"	"0000760245"
"0000360353"	"0000760468"
"0000360606"	"0000760648"
"0000360606"	"0000760670"
"0000364115"	"0000764877"
"0000364469"	"0000765250"
"0000364688"	"0000765563"
"0000364688"	"0000765600"
"0000364825"	"0000765767"
"0000364828"	"0000765770"
"0000364832"	"0000765774"
"0000364835"	"0000765777"
"0000364853"	"0000765795"
"0000364941"	"0000765883"
"0000365099"	"0000766053"
"0000365100"	"0000766054"
"0000365100"	"0000766055"
"0000373874"	"0000784187"
"0000373875"	"0000784188"
"0000374613"	"0000785405"
"0000374613"	"0000785413"
"0000375047"	"0000786308"
"0000376132"	"0000787665"
"0000376533"	"0000788141"
"0000376617"	"0000788425"
"0000377958"	"0000790478"
"0000377961"	"0000790490"
"0000377973"	"0000790541"
"0000377984"	"0000790434"
"0000378412"	"0000791167"
"0000378463"	"0000791218"
"0000378585"	"0000791434"
"0000378586"	"0000791435"
"0000378587"	"0000791436"
"0000378588"	"0000791437"
"0000378589"	"0000791438"
"0000378590"	"0000791439"
"0000378591"	"0000791440"
"0000379127"	"0000792209"
"0000379128"	"0000792210"
"0000379129"	"0000792211"
"0000379130"	"0000792212"
"0000379131"	"0000792213"
"0000379148"	"0000792245"
"0000380582"	"0000793727"
"0000380583"	"0000793728"
"0000380584"	"0000793729"
"0000380777"	"0000793973"
"0000380778"	"0000793974"
"0000380813"	"0000794011"
"0000380814"	"0000794012"
"0000381327"	"0000794728"
"0000381330"	"0000794731"
"0000381344"	"0000794745"
"0000381387"	"0000794817"
"0000381521"	"0000794982"
"0000381522"	"0000794983"
"0000381592"	"0000795070"
"0000381592"	"0000795071"
"0000382263"	"0000796004"
"0000382448"	"0000796272"
"0000382894"	"0000796845"
"0000382994"	"0000796972"
"0000383091"	"0000797083"
"0000383092"	"0000797084"
"0000383092"	"0000797157"
"0000383093"	"0000797085"
"0000383130"	"0000797122"
"0000383542"	"0000797699"
"0000383542"	"0000797700"
"0000383543"	"0000797702"
"0000383543"	"0000797703"
"0000383544"	"0000797704"
"0000383544"	"0000797705"
"0000383545"	"0000797706"
"0000383546"	"0000797707"
"0000384066"	"0000798496"
"0000384072"	"0000798502"
"0000384673"	"0000811434"
"0000384674"	"0000811435"
"0000384999"	"0000811840"
"0000385239"	"0000812179"
"0000385239"	"0000812180"
"0000385273"	"0000812236"
"0000385316"	"0000812301"
"0000385319"	"0000812306"
"0000385325"	"0000812318"
"0000385325"	"0000812321"
"0000385332"	"0000812334"
"0000385334"	"0000812337"
"0000385342"	"0000812348"
"0000385362"	"0000812382"
"0000385362"	"0000812383"
"0000385373"	"0000812400"
"0000385385"	"0000812419"
"0000385399"	"0000812439"
"0000385993"	"0000813210"
"0000387774"	"0000815932"
"0000387813"	"0000815971"
"0000387813"	"0000816321"
"0000387828"	"0000815986"
"0000387828"	"0000816330"
"0000387860"	"0000816018"
"0000387860"	"0000816361"
"0000387893"	"0000816051"
"0000387966"	"0000816124"
"0000387966"	"0000816440"
"0000387999"	"0000816157"
"0000388005"	"0000816163"
"0000388122"	"0000816543"
"0000388124"	"0000816282"
"0000388126"	"0000816284"
"0000388742"	"0000817495"
"0000388895"	"0000817691"
"0000388895"	"0000817692"
"0000389431"	"0000818490"
"0000389431"	"0000818500"
"0000389432"	"0000818491"
"0000389432"	"0000818501"
"0000389433"	"0000818492"
"0000389960"	"0000819305"
"0000389961"	"0000819306"
"0000389993"	"0000819338"
"0000389994"	"0000819339"
"0000389995"	"0000819340"
"0000389996"	"0000819341"
"0000389997"	"0000819342"
"0000389998"	"0000819343"
"0000390294"	"0000819639"
"0000390295"	"0000819640"
"0000390324"	"0000819669"
"0000390495"	"0000819840"
"0000390657"	"0000820002"
"0000390658"	"0000820003"
"0000390714"	"0000820059"
"0000390715"	"0000820060"
"0000390803"	"0000820148"
"0000390851"	"0000820196"
"0000390851"	"0000820838"
"0000390890"	"0000820235"
"0000390890"	"0000820848"
"0000390895"	"0000820240"
"0000390895"	"0000820849"
"0000391099"	"0000820444"
"0000391099"	"0000820916"
"0000391136"	"0000820481"
"0000391143"	"0000820488"
"0000391199"	"0000820544"
"0000391199"	"0000820966"
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