### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRPF31)
# 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}}"
"PRPF31"	"PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	"19"	"q13.4"	"unknown"	"NG_009759.1"	"UD_132085229951"	""	"http://www.LOVD.nl/PRPF31"	"Mutations of the RNA Processing Factor 31 <http://www.retina-international.org/files/sci-news/prp31mut.htm>"	"1"	"15446"	"26121"	"606419"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/PRPF31_NM_015629.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2015-02-28 12:35:07"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00016902"	"PRPF31"	"PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	"001"	"NM_015629.3"	""	"NP_056444.3"	""	""	""	"-396"	"1787"	"1500"	"54618790"	"54635150"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{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"	""	""
"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"
"02290"	"RP11"	"retinitis pigmentosa, type 11 (RP11)"	"AD"	"600138"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-04-29 14:36:52"
"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 = 1
"{{geneid}}"	"{{diseaseid}}"
"PRPF31"	"02290"


## Individuals ## Do not remove or alter this header ##
## Count = 830
"{{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}}"
"00001784"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00001799"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00001803"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00033147"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033168"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00105048"	""	""	""	"11"	""	"01244"	"{PMID:de Castro-Miró 2016:28005958}"	"6-generation family, 11 affecteds (7F, 4M), unaffected heterozygous carrier parents; 2 different variants segregating in family"	"F;M"	""	""	""	"0"	""	""	""	"E4"
"00207696"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00233509"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233510"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233511"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233512"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233513"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233514"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233515"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233516"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233517"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233518"	""	""	""	"6"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233519"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233520"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00269937"	""	""	""	"2"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	"family, 2 affected"	""	""	"Italy"	""	"0"	""	""	""	"Fam1P1"
"00269942"	""	""	""	"2"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	"family, 2 affected"	""	""	"Italy"	""	"0"	""	""	""	"Fam12P15"
"00292195"	""	""	""	"23"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00300602"	""	""	"00269942"	"1"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Italy"	""	"0"	""	""	""	"Fam12P16"
"00300603"	""	""	"00269937"	"1"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Italy"	""	"0"	""	""	""	"Fam1P2"
"00307697"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00309308"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309309"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309310"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309311"	""	""	""	"5"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"5 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309667"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00320031"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320032"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320033"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320034"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320035"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320036"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320037"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320038"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320039"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320040"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00320176"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00325483"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"3542"
"00325492"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"3596"
"00325524"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"4013"
"00327961"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240261"
"00328091"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005168"
"00328125"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G005261"
"00328148"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G005995"
"00331285"	""	""	""	"1"	""	"00000"	"{PMID:Maeda 2018:29785639}"	"family"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat39"
"00332206"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB33"
"00332536"	""	""	""	"1"	""	"00006"	"{PMID:Comander 2017:28981474}"	"proband, 3 affected children"	"M"	""	"United States"	""	"0"	""	""	""	"Pat18"
"00333356"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat16"
"00333382"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD1–07"
"00333507"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"51"
"00333508"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"52"
"00333509"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"53"
"00333510"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"54"
"00333511"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"55"
"00333528"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"197"
"00333565"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"240"
"00333566"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"241"
"00333567"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"242"
"00333568"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"243"
"00333569"	""	""	""	"5"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 5 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"244"
"00333589"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"298"
"00333590"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"299"
"00333591"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"300"
"00333592"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"301"
"00334424"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"family"	""	""	"China"	""	"0"	""	""	""	"RP-035"
"00334425"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"family"	""	""	"China"	""	"0"	""	""	""	"RP-098"
"00334426"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"family"	""	""	"China"	""	"0"	""	""	""	"RP-126"
"00334575"	""	""	""	"2"	""	"00000"	"{PMID:Vincent 2017:28488341}"	"family, 2 affected, patient and mother?"	"F"	""	"Samoa"	""	"0"	""	""	""	"216"
"00335145"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"430"
"00335146"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"6862"
"00335308"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat102"
"00335314"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat76"
"00335315"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat97"
"00335396"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP009"
"00335406"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP078"
"00335441"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP094"
"00335572"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_030"
"00335573"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_031"
"00335574"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_032"
"00335575"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_033"
"00335576"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_034"
"00335577"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_035"
"00335578"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_036"
"00335579"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_037"
"00335580"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_038"
"00335653"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335654"	""	""	""	"3"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335655"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335656"	""	""	""	"2"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335657"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335658"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335659"	""	""	""	"5"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335660"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335661"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335662"	""	""	""	"4"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335663"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335950"	""	""	""	"1"	""	"00000"	"{PMID:Roberts 2016:27898983}"	"family, see paper"	""	""	"South Africa"	""	"0"	""	""	"Zulu"	"RP1339"
"00358732"	""	""	""	"1"	""	"00000"	"{PMID:Carrigan 2016:27624628}"	""	""	""	"Ireland"	""	"0"	""	""	""	""
"00358780"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2016:27596865}"	"family"	"M"	""	"United States"	""	"0"	""	""	"Hispanic"	"BLM067"
"00358781"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2016:27596865}"	"family"	"F"	""	"United States"	""	"0"	""	""	"Hispanic"	"BLM043"
"00358782"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2016:27596865}"	"family"	"M"	""	"United States"	""	"0"	""	""	"Hispanic"	"BLM101"
"00358783"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2016:27596865}"	"family"	"F"	""	"United States"	""	"0"	""	""	"Hispanic"	"BLM001"
"00358784"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2016:27596865}"	"family"	"F"	""	"United States"	""	"0"	""	""	"Hispanic"	"BLM037"
"00358935"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27391102}"	""	""	""	"Switzerland"	""	"0"	""	""	""	"Case23530"
"00359000"	""	""	""	"8"	""	"00006"	"{PMID:Abdulridha-Aboud 2016:27212874}"	"4-generation family, 8 affected (3F, 5M)"	"F;M"	""	"Sweden"	""	"0"	""	""	""	"FamA"
"00359033"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12011000"
"00359112"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"11005352"
"00359124"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13006766"
"00359136"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13002431"
"00359138"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12005728"
"00359161"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13010305"
"00359187"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13002499"
"00359211"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"11011655"
"00362260"	""	""	""	"1"	""	"02404"	"{PMID:Bahena 2021:34148116}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Pat42"
"00362888"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"ADRP32"
"00363404"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2015:26720483}"	"index patient"	""	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00363420"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2015:26720483}"	"index patient"	""	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00363507"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:26496393}"	"family"	"M"	""	"China"	""	"0"	""	""	"Han"	"RP173"
"00363508"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:26496393}"	"family"	"M"	""	"China"	""	"0"	""	""	"Han"	"RP137"
"00372063"	""	""	""	"2"	""	"00000"	"{PMID:Almoguera 2015:26197217}"	"family, 2 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP-0777"
"00372080"	""	""	""	"1"	""	"00000"	"{PMID:Yoon 2015:26155838}"	"family"	""	""	"Korea"	""	"0"	""	""	""	"F07"
"00372086"	""	""	""	"1"	""	"00000"	"{PMID:Yoon 2015:26155838}"	"family"	""	""	"Korea"	""	"0"	""	""	""	"XF3"
"00372087"	""	""	""	"1"	""	"00000"	"{PMID:Yoon 2015:26155838}"	"sporadic case"	""	""	"Korea"	""	"0"	""	""	""	"430"
"00372648"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP379"
"00373353"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373361"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373466"	""	""	""	"4"	""	"00000"	"{PMID:Fernandez-San Jose 2015:25698705}"	"family, 4 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP1970"
"00373468"	""	""	""	"6"	""	"00000"	"{PMID:Fernandez-San Jose 2015:25698705}"	"family, 6 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP1541"
"00373839"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2015:25472526}"	"simplex case"	""	""	"Northern Ireland"	""	"0"	""	""	""	"Rp25"
"00374914"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"F12-1"
"00374920"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"H2-1"
"00374922"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"F"	""	"China"	""	"0"	""	""	""	"H4-1"
"00375302"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K2040"
"00375303"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6288"
"00375338"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6407"
"00375447"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2014:25133751}"	"family"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"PatD"
"00375448"	""	""	""	"6"	""	"00000"	"{PMID:Pan 2014:24940031}"	"5-generation family, 6 affected (5F, M)"	""	""	"China"	""	"0"	""	""	""	"Fam01"
"00376189"	""	""	""	"1"	""	"00000"	"{PMID:Jin 2008:18310263}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00376482"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376483"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376484"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376485"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376486"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376487"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376488"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376489"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	""
"00376490"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376491"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376492"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376493"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376494"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376495"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376496"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376497"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376498"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376499"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376500"	""	""	""	"1"	""	"00000"	"{PMID:Lim-2009:19506198}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00376814"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"VCH020"
"00376822"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"UTAD037"
"00376824"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"UTAD388"
"00377036"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024},{PMID:Köhn 2009:19050727}"	"asymptomatic gene carrier with one affected parent and offspring"	"F"	""	"Sweden"	""	"0"	""	""	""	"VII:8"
"00377037"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}, {PMID:Köhn 2009:19050727}"	"asymptomatic gene carrier with one affected parent and offspring"	"M"	""	"Sweden"	""	"0"	""	""	""	"VII:15"
"00377166"	""	""	""	"2"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"224"
"00377167"	""	""	"00377166"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"sister"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"603"
"00377396"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377397"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377398"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377399"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377400"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377401"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377402"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377403"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377404"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377405"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377406"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377407"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377408"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377409"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377410"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377411"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377505"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0777"
"00377506"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0932"
"00377507"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0932"
"00377508"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2426"
"00377509"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0076"
"00377725"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2011:20861475}"	""	""	"no"	""	""	"0"	""	""	"white"	""
"00377728"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2011:20861475}"	"Positive Control Sample"	""	"no"	""	""	"0"	""	""	""	""
"00377940"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00379343"	""	""	""	"6"	""	"00000"	"{PMID:Chakarova-2006:16917484}"	"five-generation family"	""	""	"Bulgaria"	""	"0"	""	""	"Romani (Gypsy)"	""
"00379531"	""	""	""	"1"	""	"00000"	"{PMID:Foote-2019:10480356}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00379616"	""	""	""	"1"	""	"00000"	"{PMID:Blanco-Kelly-2012:22736939}"	""	""	""	"Spain"	""	"0"	""	""	"spanish"	""
"00379617"	""	""	""	"3"	""	"00000"	"{PMID:Blanco-Kelly-2012:22736939}"	""	""	""	"Spain"	""	"0"	""	""	"spanish"	""
"00379860"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"F"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016081601"
"00379861"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016111412"
"00379862"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"F"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016120503"
"00380093"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SH_0067"
"00380190"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2018:30337596}"	"Family RP181, II:1"	"?"	"no"	"Spain"	""	"0"	""	""	""	"II:1"
"00380203"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2018:30337596}"	"Family RP40, II:1"	"?"	"no"	"Spain"	""	"0"	""	""	""	"II:1"
"00380204"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2018:30337596}"	"Family RP40, IV:1"	"?"	"no"	"Spain"	""	"0"	""	""	""	"IV:1"
"00380845"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380846"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380847"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380848"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380849"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380850"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00381009"	""	""	""	"1"	""	"00000"	"{PMID:Schorderet-2013:23484092}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss, Algerian or Tunisian"	""
"00381099"	""	""	""	"1"	""	"00000"	"{PMID:Gandra-2008:18552984}"	"an affected mother and unaffected father"	"M"	""	"India"	""	"0"	""	""	"Indian"	""
"00381234"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"patient carry mutation known cause other retinal diseases"	""	"no"	""	""	"0"	""	""	""	""
"00381605"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	""	""	"0"	""	""	"East Europe"	""
"00381606"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381619"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381660"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381663"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	""	""	"0"	""	""	"white"	""
"00381681"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"?"	"Germany"	""	"0"	""	""	""	""
"00381698"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381708"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381711"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381767"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381768"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381769"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381770"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381771"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381772"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381773"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381774"	""	""	""	"1"	""	"00000"	"{PMID:Sullivan-2013:23950152}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381896"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"46"
"00381897"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"47"
"00381898"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"48"
"00381899"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"49"
"00381900"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"50"
"00381901"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"51"
"00381902"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"52"
"00381903"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"53"
"00382351"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"180"
"00382352"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"181"
"00382353"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"182"
"00382354"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"183"
"00382355"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"184"
"00382356"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"185"
"00382357"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"186"
"00382358"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"187"
"00382359"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"188"
"00382360"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"189"
"00382365"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"194"
"00382373"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"202"
"00382579"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"441"
"00382580"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"442"
"00382581"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"443"
"00383060"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383061"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383064"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383065"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383075"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383085"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383089"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383091"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383096"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383820"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383821"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383822"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00384443"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14556"
"00384632"	""	""	""	"1"	""	"00000"	"{PMID:Ehrenberg 2019:31814694}"	""	"F"	"no"	"Israel"	""	"0"	""	""	""	"Family 9 patient 1"
"00385115"	""	""	""	"1"	""	"00000"	"{PMID:Shakhmantsir 2020:31726916}"	"father of JB773"	"M"	""	"Brazil"	""	"0"	""	""	""	"JB774 (RP1)"
"00385116"	""	""	""	"1"	""	"00000"	"{PMID:Shakhmantsir 2020:31726916}"	"son of JB774"	"M"	""	"Brazil"	""	"0"	""	""	""	"JB773 (RP3)"
"00385117"	""	""	""	"1"	""	"00000"	"{PMID:Shakhmantsir 2020:31726916}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"JB878 (RP2)"
"00385727"	""	""	""	"1"	""	"00000"	"{PMID:Dan 2020:31960602}"	""	"F"	"?"	"China"	""	"0"	""	""	""	"133"
"00385847"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"22"
"00386172"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-284"
"00386214"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-168, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-335"
"00386215"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-168, family member"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-584"
"00386216"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-168, family member"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-585"
"00386221"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-175, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-347"
"00386258"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-233, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-603"
"00386545"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"001-028"
"00386559"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"001-422"
"00386561"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"001-430"
"00386566"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"001-593"
"00386581"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"003-116"
"00386592"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"039-151"
"00386604"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"099-028"
"00386616"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-051"
"00386648"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-192"
"00386654"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-215"
"00386685"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"218-379"
"00386695"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI1324_002474"
"00386696"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI1330_002488"
"00386698"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI1374_002554"
"00386702"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2828_004413"
"00386735"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2873_004458"
"00386746"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2890_004475"
"00386755"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2903_004488"
"00386768"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2917_004502"
"00386772"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2921_004506"
"00386785"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2938_004523"
"00386828"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI633_001296"
"00386850"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI716_001427"
"00386854"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI735_001452"
"00386981"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"7"
"00386982"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"8"
"00386983"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"9"
"00386984"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"10"
"00386985"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"11"
"00386986"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"12"
"00386987"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"13"
"00386988"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"14"
"00386989"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"15"
"00386990"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"16"
"00387382"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32100970}"	""	"F"	""	"China"	""	"0"	""	""	""	"2"
"00388506"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	"2-generation family, 1 affected, unaffected heterozygous carrier father"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"14017670"
"00388728"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 7, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"12"
"00388729"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 7, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"13"
"00388730"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 7, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"14"
"00388772"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"56"
"00388773"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"57"
"00388774"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"58"
"00388775"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"59"
"00388776"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"60"
"00388777"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"61"
"00388778"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 32, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"62"
"00388959"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 83, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"243"
"00388960"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 83, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"244"
"00389192"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 156, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"476"
"00389193"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 156, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"477"
"00389196"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 158, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"480"
"00389197"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 158, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"481"
"00389244"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 179, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"528"
"00389432"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 268, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"716"
"00389433"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 268, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"717"
"00389447"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 280, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"731"
"00389448"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 280, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"732"
"00389449"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 280, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"733"
"00389536"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 334, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"820"
"00389548"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 343, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"832"
"00389549"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 343, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"833"
"00389550"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 343, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"834"
"00389551"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 344, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"835"
"00389552"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 344, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"836"
"00389571"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 353, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"855"
"00389572"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 353, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"856"
"00389574"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 354, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"858"
"00389588"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 361, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"872"
"00389589"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 361, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"873"
"00389596"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 367, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"880"
"00389634"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 392, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"918"
"00389641"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 395, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"925"
"00389644"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 397, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"928"
"00389648"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 405, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"932"
"00389651"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 407, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"935"
"00389655"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 411, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"939"
"00389656"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 411, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"940"
"00389660"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 417, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"944"
"00389664"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 422, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"948"
"00389665"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 422, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"949"
"00389700"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 448, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"984"
"00389703"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 452, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"987"
"00389704"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 453, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"988"
"00389705"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 453, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"989"
"00389796"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 707, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1080"
"00389825"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 749, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1109"
"00389854"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 788, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1138"
"00389861"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 804, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1145"
"00389871"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 821, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1155"
"00389878"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 827, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1162"
"00389941"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 966, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1225"
"00389948"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 982, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1232"
"00389983"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1078, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1267"
"00389990"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1091, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1274"
"00390006"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1136, sporadic retinitis pigmentosa , no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1290"
"00390007"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1137, sporadic retinitis pigmentosa , no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1291"
"00390009"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1139, sporadic retinitis pigmentosa , no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1293"
"00390350"	""	""	""	"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"	""	""	""	"G005168"
"00390351"	""	""	""	"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"	""	""	""	"G005261"
"00390352"	""	""	""	"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"	""	""	""	"G005995"
"00390480"	""	""	""	"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"	""	""	""	"G001008"
"00390481"	""	""	""	"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"	""	""	""	"G006015"
"00392313"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"24"
"00392315"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"106"
"00392319"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"191038"
"00392320"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"191054"
"00392323"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"191114"
"00392324"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"191135"
"00392331"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"191265"
"00392339"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"191433"
"00392340"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"191443"
"00392342"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"191469"
"00392344"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"191489"
"00392345"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"191514"
"00392351"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19218"
"00392354"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"19392"
"00392356"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"19417"
"00392359"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19446"
"00392372"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19647"
"00392377"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19679"
"00392378"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"19719"
"00392384"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19843"
"00393514"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393576"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393600"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393659"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393668"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393681"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393693"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393748"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393757"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393793"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393824"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393909"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394327"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP9"
"00394328"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP10"
"00394485"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394486"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394487"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394488"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394489"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00395852"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F089"
"00395862"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F258"
"00395877"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F193"
"00395891"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F063"
"00395916"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F269"
"00395931"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F062"
"00395950"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F165"
"00396428"	""	""	""	"1"	""	"00006"	"{PMID:Ellingford 2016:26872967}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"067099"
"00396484"	""	""	""	"1"	""	"00000"	"{PMID:Dockery 2017:29099798}"	"no patient numbers in the paper, consecutive numbers given"	"?"	""	"Ireland"	""	"0"	""	""	""	"17"
"00396522"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00396635"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00420432"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F062"
"00420433"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F063"
"00420448"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F089"
"00420488"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F165"
"00420506"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F193"
"00420553"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F258"
"00420562"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F269"
"00420799"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 17755, individual II:2; parents healthy"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"17755_II:2"
"00420800"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 8591, individual II:1; parents healthy, untested"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"8591_II:1"
"00420801"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21240, individual III:1; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"21240_III:1"
"00420802"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21240, individual I:2; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"21240_I:2"
"00420803"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21240, individual II:1; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"21240_II:1"
"00420804"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21240, individual II:2; 3-generation family, 5 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"21240_II:2"
"00420805"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21240, individual II:4; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"21240_II:4"
"00420806"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22076, individual II:1; parents healthy, untested"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"22076_II:1"
"00420807"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21423, individual II:2; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"21423_II:2"
"00420808"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 20921, individual I:2; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"20921_I:2"
"00420809"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 20921, individual II:2; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"20921_II:2"
"00420810"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 20917, individual II:2; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"20917_II:2"
"00420811"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 13662, individual I:2; 2-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"13662_I:2"
"00420812"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 13662, individual II:1; 2-generation family, 3 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"13662_II:1"
"00420813"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 13662, individual II:2; 2-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"13662_II:2"
"00420814"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 20729, individual I:1; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"20729_I:1"
"00420815"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 20729, individual II:2; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"20729_II:2"
"00420816"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 14373, individual II:1; parents healthy, untested"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"14373_II:1"
"00420817"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 19308, individual III:1; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"19308_III:1"
"00420818"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 17085, individual II:5; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"17085_II:5"
"00420819"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22861, individual I:1; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"22861_I:1"
"00420820"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22861, individual II:2; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"22861_II:2"
"00420821"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 18288, individual II:3; 3-generation family, 5 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"18288_II:3"
"00420822"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 18288, individual III:1; 3-generation family, 5 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"18288_III:1"
"00420823"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 18288, individual III:2; 3-generation family, 5 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"18288_III:2"
"00420824"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 14812, individual II:5; parents healthy, untested"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"14812_II:5"
"00420825"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22043, individual I:2; 3-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"22043_I:2"
"00420826"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22043, individual II:2; 3-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"22043_II:2"
"00420827"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22043, individual III:1; 3-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"22043_III:1"
"00424974"	""	""	""	"1"	""	"00000"	"{PMID:Wheway 2019:30967900}"	"mutation comes from asymptomatic father; all affected members of the family were on the father’s si"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00424975"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"1"
"00424976"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"2"
"00424977"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"3"
"00424978"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"4"
"00424979"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"5"
"00424980"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"6"
"00424981"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"7"
"00424982"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"8"
"00424983"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"9"
"00424984"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"10"
"00424985"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"11"
"00424986"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"12"
"00424987"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"13"
"00424988"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"14"
"00424989"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"15"
"00424990"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"16"
"00424991"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"17"
"00424992"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"18"
"00424993"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"19"
"00424994"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"20"
"00424995"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"21"
"00424996"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"22"
"00424997"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"23"
"00424998"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"24"
"00424999"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"25"
"00425000"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"26"
"00425001"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"27"
"00425002"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"28"
"00425003"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"29"
"00425004"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"30"
"00425005"	""	""	""	"1"	""	"00000"	"{PMID:Kiser 2019:30582903}"	""	""	""	"United States"	""	"0"	""	""	""	"31"
"00425006"	""	""	""	"1"	""	"00000"	"{PMID:Huryn 2019:30339877}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00425761"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s father"	"M"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_III:3"
"00425762"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s paternal uncle 1"	"M"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_III:7"
"00425763"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s paternal uncle 2"	"M"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_III:9"
"00425764"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband, asymptomatic carrier father"	"F"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_IV:3"
"00425765"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s sister"	"F"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_IV:7"
"00425766"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s paternal cousin"	"M"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_IV:19"
"00425767"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s sister\'s daughter"	"F"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_V:9"
"00425768"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s paternal uncle 1\'s daughter"	"F"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_IV:11"
"00425769"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2018:30099644}"	"5-generation family, proband\'s paternal uncle 2\'s daughter"	"F"	""	"India"	""	"0"	""	""	"North Indian"	"RP-986_IV:12"
"00425780"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2019:30030392}"	"3 generation family, proband\'s brother 1"	"M"	""	""	""	"0"	""	""	""	"II-1"
"00425781"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2019:30030392}"	"3 generation family, proband\'s brother 2"	"M"	""	""	""	"0"	""	""	""	"II-2"
"00425782"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2019:30030392}"	"3 generation family, proband"	"F"	""	""	""	"0"	""	""	""	"II-3"
"00425783"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband\'s father"	"M"	""	""	""	"0"	""	""	""	"adRP-074_II:1"
"00425784"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband\'s father\'s half-brother"	"M"	""	""	""	"0"	""	""	""	"adRP-074_II:4"
"00425785"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband"	"M"	""	""	""	"0"	""	""	""	"adRP-074_III:1"
"00425786"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband\'s sister"	"F"	""	""	""	"0"	""	""	""	"adRP-074_III:2"
"00425787"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband\'s father\'s half-brother\'s son"	"M"	""	""	""	"0"	""	""	""	"adRP-074_III:3"
"00425788"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband\'s father"	"M"	""	""	""	"0"	""	""	""	"adRP-061_II:1"
"00425789"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband"	"M"	""	""	""	"0"	""	""	""	"adRP-061_III:2"
"00425790"	""	""	""	"1"	""	"00000"	"{PMID:Xie 2018:29957067}"	"3 generation family, proband"	"M"	""	""	""	"0"	""	""	""	"adRP-037_II:1"
"00425870"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family ONE, individual I-1, proband\'s paternal grandfather"	"M"	""	""	""	"0"	""	""	""	"I-1"
"00425871"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family ONE, individual II-2, proband\'s father"	"M"	""	""	""	"0"	""	""	""	"II-2"
"00425872"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family ONE, individual III-1, proband"	"M"	""	""	""	"0"	""	""	""	"III-1"
"00425873"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family TWO, individual I-1, proband\'s maternal grandfather"	"M"	""	""	""	"0"	""	""	""	"I-1"
"00425874"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family TWO, individual II-2, proband\'s mother"	"F"	""	""	""	"0"	""	""	""	"II-2"
"00425875"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family TWO, individual II-3, proband\'s maternal uncle"	"M"	""	""	""	"0"	""	""	""	"II-3"
"00425876"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"family TWO, individual III-1, proband"	"F"	""	""	""	"0"	""	""	""	"III-1"
"00425877"	""	""	""	"1"	""	"00000"	"{PMID:Zheng 2018:29375987}"	"isolated case"	"M"	""	""	""	"0"	""	""	""	"?"
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"00425881"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F1, individual IV:2; proband\'s son"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:2"
"00425882"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F1, individual IV:3; proband\'s daughter 1"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:3"
"00425883"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F1, individual IV:5; proband\'s daughter 2"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:5"
"00425884"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F1, individual V:1; proband\'s son\'s son"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"V:1"
"00425885"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F1, individual V:5; proband\'s daughter 1\'s son"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"V:5"
"00425886"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F1, individual VI:1; proband\'s daughter 1\'s daughter\'s son"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"VI:1"
"00425887"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F2, individual II:1, sibling of II:5"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00425888"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F2, individual II:5, sibling of II:1"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:5"
"00425889"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual III:6"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:6"
"00425890"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual IV:12, daughter 3 of III:6"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:12"
"00425891"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual IV:14, daughter 4 of III:6"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:14"
"00425892"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual IV:15, son of III:8 (untested)"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:15"
"00425893"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual IV:6, son of III:2 (untested)"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:6"
"00425894"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual V:5, daughter of IV:14"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"V:5"
"00425895"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:29260190}"	"family RP-F3, individual V:6, son of IV:14"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"V:6"
"00426042"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual III:4, son 2 of II:1"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:4"
"00426043"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual III:5, son 3 of II:1"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:5"
"00426044"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual III:6, son 4 of II:1"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:6"
"00426045"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual IV:9, daughter of III:4"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:9"
"00426046"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual IV:14, son of III:6"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:14"
"00426047"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual IV:15, daughter of III:6"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:15"
"00426048"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual V:2, daughter of IV:9"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"V:2"
"00426345"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0006, individual VI:5 (in different places of the publication this individual had different names, where the pedigree is shortened: II:3 in 3 generation pedigree and I:2 in 2 generation pedigree)"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0006_VI:5"
"00426346"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0006, individual VII:9 (in different places of the publication this individual had different names, where the pedigree is shortened: III:9 in 3 generation pedigree and II:1 in 2 generation pedigree)"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0006_VII:9"
"00426347"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0182, individual IV:4, proband"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0182_IV:4"
"00426348"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0361, individual III:6, proband\'s father"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0361_III:6"
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"00426350"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0361, individual IV:6, proband\'s sister 2"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0361_IV:6"
"00426351"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0361, individual IV:7, proband\'s sister 3"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0361_IV:7"
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"00426353"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual II:4, proband\'s brother 2"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_II:4"
"00426354"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual III:14, proband\'s brother 2\'s son 2"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_III:14"
"00426355"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual III:15, proband\'s brother 2\'s daughter 1"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_III:15"
"00426356"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual III:16, proband\'s brother 2\'s daughter 2"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_III:16"
"00426357"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual II:5, proband\'s brother 3"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_II:5"
"00426358"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual III:10, proband\'s brother 3\'s son"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_III:10"
"00426359"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0368, individual III:3, proband\'s daughter"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0368_III:3"
"00426360"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0637, individual II:2, proband\'s mother"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0637_II:2"
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"00426363"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0777, individual III:1, proband"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0777_III:1"
"00426364"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0777, individual II:4, proband\'s father"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0777_II:4"
"00426365"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0932, individual III:1, proband\'s father"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0932_III:1"
"00426366"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0932, individual IV:1, proband"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0932_IV:1"
"00426367"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0932, individual III:12, proband\'s father\'s paternal cousin"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0932_III:12"
"00426368"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-0932, individual IV:12, proband\'s father\'s paternal cousin\'s daughter"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-0932_IV:12"
"00426369"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1541, individual IV:2, proband (on pedigree as VI:2)"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1541_IV:2"
"00426370"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1541, individual IV:5, proband\'s maternal cousin proband (on pedigree as VI:5)"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1541_IV:5"
"00426371"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1599, individual III:6, proband\'s father\'s sister"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1599_III:6"
"00426372"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1599, individual III:1, proband\'s father"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1599_III:1"
"00426373"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1599, individual III:9, proband\'s father\'s sister"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1599_III:9"
"00426374"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1599, individual II:2, proband\'s father\'s mother"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1599_II:2"
"00426375"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1599, individual IV:4, proband"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1599_IV:4"
"00426376"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1609, individual IV:2, proband"	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1609_IV:2"
"00426377"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2017:28192796}"	"family RP-1609, individual III:2, proband\'s father"	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-1609_III:2"
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"00426432"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 15"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1085_15"
"00426433"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 22"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1085_22"
"00426434"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 25"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_25"
"00426435"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 26"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_26"
"00426436"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 27"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1085_27"
"00426437"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 30"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_30"
"00426438"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 32"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_32"
"00426439"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 33"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1085_33"
"00426440"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 36"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_36"
"00426441"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 38"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_38"
"00426442"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 39"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1085_39"
"00426443"	""	""	""	"1"	""	"00000"	"{PMID:Lu 2013:24244300}"	"family 1085, individual 43"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1085_43"
"00426444"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual III-1"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _III-1"
"00426445"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual IV-2"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _IV-2"
"00426446"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual III-3"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _III-3"
"00426447"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual IV-4"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _IV-4"
"00426448"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual IV-5"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _IV-5"
"00426449"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual III-5"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _III-5"
"00426450"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual IV-6"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _IV-6"
"00426451"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP24 , individual III-6 (III:7 on the pedigree)"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"RP24 _III-6"
"00426452"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP106, individual II-1"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP106_II-1"
"00426453"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP106, individual III-1"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP106_III-1"
"00426454"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP106, individual III-3"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"RP106_III-3"
"00426455"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP106, individual II-3"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP106_II-3"
"00426456"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP106, individual III-6"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"RP106_III-6"
"00426457"	""	""	""	"1"	""	"00000"	"{PMID:Dong 2013:24319336}"	"family RP106, individual IV-3"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"RP106_IV-3"
"00426458"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III-2"
"00426459"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III-7"
"00426460"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III-10"
"00426461"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV-2"
"00426462"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV-6"
"00426463"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV-7"
"00426464"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV-12"
"00426465"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV-15"
"00426466"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV-16"
"00426467"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV-18"
"00426468"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2015:23834559}"	"5 generation family, son of asymptomatic father IV:3"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"V-1"
"00426760"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"RP677"
"00426761"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"RP1907"
"00426762"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"AD29"
"00426763"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"AD5"
"00426764"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"SP14"
"00426765"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"SP42"
"00426766"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2001:11545739}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"SP117"
"00426767"	""	""	""	"19"	""	"00000"	"{PMID:Xia 2004:15162096}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00426768"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2003:12923864}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	"RPYT"
"00426769"	""	""	""	"3"	""	"00000"	"{PMID:Sato 2005:16139010}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	"Family 1"
"00426770"	""	""	""	"3"	""	"00000"	"{PMID:Sato 2005:16139010}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	"Family 2"
"00426771"	""	""	""	"2"	""	"00000"	"{PMID:Sato 2005:16139010}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	"Family 3"
"00426772"	""	""	""	"1"	""	"00000"	"{PMID:Sato 2005:16139010}"	"asymptomatic carrier: father, siblings, children, and grandchildren were symptomatic patients with RP."	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"Family 1:II-3"
"00426773"	""	""	""	"1"	""	"00000"	"{PMID:Sato 2005:16139010}"	"asymptomatic carrier: mother, children, and grandchildren were symptomatic patients with RP"	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"Family 2:II-2"
"00426774"	""	""	""	"1"	""	"00000"	"{PMID:Abu Safieh 2006:16636657}"	"chronic asthma or chronic bronchitis"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"IV.2"
"00426775"	""	""	""	"1"	""	"00000"	"{PMID:Abu Safieh 2006:16636657}"	"facial dysmorphia with telecanthus"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"IV.1"
"00426776"	""	""	""	"1"	""	"00000"	"{PMID:Abu Safieh 2006:16636657}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III.3"
"00426777"	""	""	""	"1"	""	"00000"	"{PMID:Abu Safieh 2006:16636657}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III.9"
"00426778"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"II-3"
"00426779"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"III-1"
"00426780"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"III-2"
"00426781"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"III-3"
"00426782"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"III-15"
"00426783"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"II-2"
"00426784"	""	""	""	"1"	""	"00000"	"{PMID:Taira 2007:17295140}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"II-8"
"00426785"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-D"
"00426786"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-C:IV-4"
"00426787"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	"Mother of IV-4 (asymptomatic carrier)"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-C:III-4"
"00426788"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-C:III-6"
"00426789"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00426790"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00426791"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-A:III-4"
"00426792"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-A:II-5"
"00426793"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-A:II-3"
"00426794"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fig2-B"
"00426795"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"RP1907 (IV-8)"
"00426796"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"RP1907 (V-8)"
"00426797"	""	""	""	"1"	""	"00000"	"{PMID:Waseem 2007:17325180}"	"asymptomatic mother"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"RP1907 (IV-11)"
"00426798"	""	""	""	"1"	""	"00000"	"{PMID:Ghazawy 2007:17895420}"	""	"F"	""	""	""	"0"	""	""	""	""
"00426799"	""	""	""	"7"	""	"00000"	"{PMID:Liu 2008:18177735}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	"P"
"00426800"	""	""	""	"3"	""	"00000"	"{PMID:Liu 2008:18177735}"	"asymptomatic carrier"	""	""	"China"	""	"0"	""	""	"Chinese"	"C"
"00426803"	""	""	""	"1"	""	"00000"	"{PMID:Aleman 2009:18704120}"	""	""	""	""	""	"0"	""	""	""	""
"00426804"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"I:2"
"00426805"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:4"
"00426806"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:5"
"00426807"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:7"
"00426808"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:4"
"00426809"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:5"
"00426810"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	"Unaffected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00426811"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	"Unaffected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:4"
"00426812"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:3"
"00426813"	""	""	""	"1"	""	"00000"	"{PMID:Cao 2020:33085829}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:5"
"00426814"	""	""	""	"1"	""	"00000"	"{PMID:RioFrio 2008:18317597}"	""	"M"	""	""	""	"0"	""	""	""	"14523"
"00426815"	""	""	""	"1"	""	"00000"	"{PMID:RioFrio 2008:18317597}"	""	"F"	""	""	""	"0"	""	""	""	"14686"
"00426816"	""	""	""	"1"	""	"00000"	"{PMID:RioFrio 2008:18317597}"	""	"M"	""	""	""	"0"	""	""	""	"14266"
"00426817"	""	""	""	"1"	""	"00000"	"{PMID:RioFrio 2008:18317597}"	""	"F"	""	""	""	"0"	""	""	""	"12688"
"00426818"	""	""	""	"1"	""	"00000"	"{PMID:RioFrio 2008:18317597}"	""	"F"	""	""	""	"0"	""	""	""	"13190"
"00426819"	""	""	""	"1"	""	"00000"	"{PMID:RioFrio 2008:18317597}"	""	"F"	""	""	""	"0"	""	""	""	"14284"
"00426820"	""	""	""	"12"	""	"00000"	"{PMID:Ko?hn 2009:19050727}"	""	""	""	"Sweden"	""	"0"	""	""	"Swedish"	"family 078"
"00426821"	""	""	""	"7"	""	"00000"	"{PMID:Ko?hn 2009:19050727}"	""	""	""	"Sweden"	""	"0"	""	""	"Swedish"	"family 008"
"00426822"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2012:23288994}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"ADRP-HT/III:1"
"00426823"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2012:23288994}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"ADRP-LG/III:9"
"00426824"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2012:23288994}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"ADRP-LLN/III:1"
"00426825"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2012:23288994}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"ADRP-XL/IV:1"
"00426826"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2010:19584904}"	"asymptomatic obligate carrier"	""	""	"Spain"	""	"0"	""	""	""	"IV.1"
"00426827"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2010:19584904}"	"asymptomatic obligate carrier"	""	""	"Spain"	""	"0"	""	""	""	"IV.5"
"00426828"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2010:19584904}"	"asymptomatic obligate carrier"	""	""	"Spain"	""	"0"	""	""	""	"IV.14"
"00426829"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2010:19584904}"	""	""	""	"Spain"	""	"0"	""	""	""	"V.10"
"00426830"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2010:19584904}"	""	""	""	"Spain"	""	"0"	""	""	""	"V.11"
"00426831"	""	""	""	"8"	""	"00000"	"{PMID:RioFrio 2009:19618371}"	"affected"	""	""	"United States"	""	"0"	""	""	"American"	""
"00426832"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2010:20939871}"	"From North of Brittany Father affected and few"	"M"	""	""	""	"0"	""	""	"French"	"CIC398"
"00426833"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2010:20939871}"	"One sister affected, cousins on maternal side affected Mother not affected incomplete penetrance From French descent"	"F"	""	""	""	"0"	""	""	"French"	"CIC00607"
"00426834"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2010:20939871}"	"Family from Cameroun, daughter mother and one brother affected, no notion of incomplete penetrance"	"F"	""	""	""	"0"	""	""	"French"	"CIC00034"
"00426835"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2010:20939871}"	"Paternal grand-mother, great-grand mother and one great-uncle on father side affected, French family from Jewish Ashkenazi ancestry"	"F"	""	""	""	"0"	""	""	"French"	"CIC03777"
"00426836"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2010:20939871}"	"One elder brother affected, one niece affected from one of his unaffected sister, one uncle on father side Incomplete penetrance family originating from the Mauritius Island"	"M"	""	""	""	"0"	""	""	"French"	"CIC01171"
"00426837"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2010:20939871}"	"Mother, maternal grand- mother affected; family from Ivory Coast"	"F"	""	""	""	"0"	""	""	"French"	"CIC00140"
"00426838"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"F"	""	"India"	""	"0"	""	""	""	"III:2"
"00426839"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"III:5"
"00426840"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Carrier"	"M"	""	"India"	""	"0"	""	""	""	"III:9"
"00426841"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"III:11"
"00426842"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"III:13"
"00426843"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"III:15"
"00426844"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"IV:1"
"00426845"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"IV:3"
"00426846"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"IV:7"
"00426847"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"IV:11"
"00426848"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"IV:19"
"00426849"	""	""	""	"1"	""	"00000"	"{PMID:Saini 2012:23041261}"	"Affected"	"M"	""	"India"	""	"0"	""	""	""	"1V:21"
"00426850"	""	""	""	"1"	""	"00000"	"{PMID:Utz-2013:23343310}"	""	"F"	""	""	""	"0"	""	""	""	"II:1"
"00426851"	""	""	""	"1"	""	"00000"	"{PMID:Utz-2013:23343310}"	"Has an unaffected daugther who has an affected child"	"F"	""	""	""	"0"	""	""	""	"II:3"
"00426852"	""	""	""	"1"	""	"00000"	"{PMID:Utz-2013:23343310}"	""	"F"	""	""	""	"0"	""	""	""	"II:5"
"00426853"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"M"	""	"China"	""	"0"	""	""	""	"ADRP-HT/III:1"
"00426854"	""	""	""	"16"	""	"00000"	"{PMID:Yang 2020:32031697}"	""	"M;F"	""	"China"	""	"0"	""	""	""	"ADRP-LG"
"00426855"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	"Carrier (III:9 in Yang 2020) (II:1 in Xu 2012)"	"M"	""	"China"	""	"0"	""	""	""	"ADRP-LG/III:9"
"00426856"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"F"	""	"China"	""	"0"	""	""	""	"ADRP-LLN/III:1"
"00426857"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"M"	""	"China"	""	"0"	""	""	""	"ADRP-XL"
"00426858"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	"Carrier"	"M"	""	"China"	""	"0"	""	""	""	"ADRP-XL/III:2"
"00426859"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"II:1"
"00426860"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"II:3"
"00426861"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"III:2"
"00426862"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"III:3"
"00426863"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"IV:3"
"00426864"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"IV:5"
"00426865"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"IV:14"
"00426866"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"V:3"
"00426867"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"V:6"
"00426868"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"III:1"
"00426869"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"III:9"
"00426870"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"III:12"
"00426871"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"III:13"
"00426872"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"III:25"
"00426873"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"III:30"
"00426874"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"M"	""	"China"	""	"0"	""	""	""	"IV:2"
"00426875"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"IV:5"
"00426876"	""	""	""	"1"	""	"00000"	"{PMID:Yang-2013:24202059}"	""	"F"	""	"China"	""	"0"	""	""	""	"IV:11"
"00426877"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"307"
"00426878"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"306"
"00426879"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"305"
"00426880"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"319"
"00426881"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"320"
"00426882"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"323"
"00426883"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"325"
"00426884"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	""	""	""	""	""	"0"	""	""	""	"271"
"00426885"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"297"
"00426886"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"298"
"00426887"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"255"
"00426888"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"311"
"00426889"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"353"
"00426890"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"299"
"00426891"	""	""	""	"1"	""	"00000"	"{PMID:Vithana 2003:14507862}"	"Asymptomatic carrier"	""	""	""	""	"0"	""	""	""	"340"
"00426938"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 42, individual 50"	"F"	""	""	""	"0"	""	""	""	"42_50"
"00426939"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 42, individual 51"	"M"	""	""	""	"0"	""	""	""	"42_51"
"00429513"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429578"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429599"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429613"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429641"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429655"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429658"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429708"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429733"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429781"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429803"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429885"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429902"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429947"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430040"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00435411"	""	""	""	"8"	""	"00006"	"{PMID:De Sousa Dias 2013:23559859}"	"4-generation family, 8 affected (3F, 5M)"	"F;M"	""	"Spain"	""	"0"	""	""	""	"Fam1"
"00441664"	""	""	""	"5"	""	"04542"	"{PMID:Fadaie 2021:34795310}, {PMID:de Bruijn 2023:36524988}"	"family, 5 affected"	""	""	"Ireland"	""	"0"	""	""	""	"Pat23;070261"
"00441665"	""	""	""	"1"	""	"04542"	"{PMID:de Bruijn 2023:36524988}"	""	""	""	""	""	"0"	""	""	""	"DNA17-05683"
"00445387"	""	""	""	"1"	""	"00006"	"{PMID:de Bruijn 2023:36524988}"	"family, 5 affected"	""	""	""	""	"0"	""	""	""	"DNA09-05083"
"00446927"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-115"
"00446931"	""	""	""	"3"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-353"
"00446932"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-367"
"00446939"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-473"
"00446941"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-478"
"00446942"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-482"
"00446943"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-483"
"00446944"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-485"
"00446946"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-490"
"00446955"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-505"
"00446956"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-508"
"00446959"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-516"
"00447021"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-491"
"00447259"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-983"
"00447274"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1139"
"00447286"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1161"
"00447307"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1217"
"00447318"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1253"
"00447319"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1254"
"00447454"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"XRP-188"
"00447585"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-391"
"00447588"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-602"
"00447591"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-687"
"00447593"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-784"
"00459013"	""	""	""	"2"	""	"00006"	"{PMID:Wen 2023:36811936}"	"2-generation family, 2 affected (mother/daughter)"	"F"	""	"United States"	""	"0"	""	""	""	"MEP_258"
"00459014"	""	""	""	"2"	""	"00006"	"{PMID:Wen 2023:36811936}"	"2-generation family, 2 affected (daughter/father)"	"F"	""	"United States"	""	"0"	""	""	""	"MEP_243"
"00459015"	""	""	""	"1"	""	"00006"	"{PMID:Wen 2023:36811936}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"United States"	""	"0"	""	""	""	"SRF_847"
"00461094"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"F"	""	"South Africa"	""	"0"	""	""	"white"	"Pat29"
"00461096"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"F"	""	"South Africa"	""	"0"	""	""	"mixed"	"Pat31"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 830
"{{individualid}}"	"{{diseaseid}}"
"00001784"	"00112"
"00001799"	"00112"
"00001803"	"00112"
"00033147"	"04214"
"00033168"	"04214"
"00105048"	"04214"
"00207696"	"04214"
"00233509"	"04214"
"00233510"	"04214"
"00233511"	"04214"
"00233512"	"04214"
"00233513"	"04214"
"00233514"	"04214"
"00233515"	"04214"
"00233516"	"04214"
"00233517"	"04214"
"00233518"	"04214"
"00233519"	"04214"
"00233520"	"04214"
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"00426810"	"00000"
"00426811"	"00000"
"00426812"	"04214"
"00426813"	"04214"
"00426814"	"04214"
"00426815"	"04214"
"00426816"	"04214"
"00426817"	"04214"
"00426818"	"04214"
"00426819"	"04214"
"00426820"	"04214"
"00426821"	"04214"
"00426822"	"04214"
"00426823"	"04214"
"00426824"	"04214"
"00426825"	"04214"
"00426826"	"04214"
"00426827"	"04214"
"00426828"	"04214"
"00426829"	"04214"
"00426830"	"04214"
"00426831"	"04214"
"00426832"	"04214"
"00426833"	"04214"
"00426834"	"04214"
"00426835"	"04214"
"00426836"	"04214"
"00426837"	"04214"
"00426838"	"04214"
"00426839"	"04214"
"00426840"	"00000"
"00426841"	"04214"
"00426842"	"04214"
"00426843"	"04214"
"00426844"	"04214"
"00426845"	"04214"
"00426846"	"04214"
"00426847"	"04214"
"00426848"	"04214"
"00426849"	"04214"
"00426850"	"04214"
"00426851"	"04214"
"00426852"	"04214"
"00426853"	"04214"
"00426854"	"04214"
"00426855"	"00000"
"00426856"	"04214"
"00426857"	"04214"
"00426858"	"00000"
"00426859"	"04214"
"00426860"	"04214"
"00426861"	"04214"
"00426862"	"04214"
"00426863"	"04214"
"00426864"	"04214"
"00426865"	"04214"
"00426866"	"04214"
"00426867"	"04214"
"00426868"	"04214"
"00426869"	"04214"
"00426870"	"04214"
"00426871"	"04214"
"00426872"	"04214"
"00426873"	"04214"
"00426874"	"04214"
"00426875"	"04214"
"00426876"	"04214"
"00426877"	"04214"
"00426878"	"04214"
"00426879"	"04214"
"00426880"	"04214"
"00426881"	"04214"
"00426882"	"04214"
"00426883"	"04214"
"00426884"	"04214"
"00426885"	"00000"
"00426886"	"00000"
"00426887"	"00000"
"00426888"	"00000"
"00426889"	"00000"
"00426890"	"00000"
"00426891"	"00000"
"00426938"	"04214"
"00426939"	"04214"
"00429513"	"00112"
"00429578"	"00112"
"00429599"	"00112"
"00429613"	"00112"
"00429641"	"00112"
"00429655"	"00112"
"00429658"	"00112"
"00429708"	"00112"
"00429733"	"00112"
"00429781"	"00112"
"00429803"	"00112"
"00429885"	"00112"
"00429902"	"00112"
"00429947"	"00112"
"00430040"	"00112"
"00435411"	"00112"
"00441664"	"00112"
"00441665"	"00112"
"00445387"	"00112"
"00446927"	"00198"
"00446931"	"00198"
"00446932"	"00198"
"00446939"	"00198"
"00446941"	"00198"
"00446942"	"00198"
"00446943"	"00198"
"00446944"	"00198"
"00446946"	"00198"
"00446955"	"00198"
"00446956"	"00198"
"00446959"	"00198"
"00447021"	"00198"
"00447259"	"00198"
"00447274"	"00198"
"00447286"	"00198"
"00447307"	"00198"
"00447318"	"00198"
"00447319"	"00198"
"00447454"	"00198"
"00447585"	"00198"
"00447588"	"00198"
"00447591"	"00198"
"00447593"	"00198"
"00459013"	"00112"
"00459014"	"00112"
"00459015"	"00112"
"00461094"	"04214"
"00461096"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 02290, 04214, 05415
## Count = 794
"{{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}}"
"0000026576"	"04214"	"00033147"	"00229"	"Unknown"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026597"	"04214"	"00033168"	"00229"	"Unknown"	"65y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000082939"	"04214"	"00105048"	"01244"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000155487"	"04214"	"00207696"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000207733"	"04214"	"00269937"	"01848"	"Familial, autosomal dominant"	"15y"	"Pericentral RP, photophobia, pericentral field loss"	"08y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000207737"	"04214"	"00269942"	"01848"	"Familial, autosomal dominant"	"22y"	"Pericentral RP, incidental diagnosis, pericentral field loss"	"04y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000227913"	"04214"	"00300602"	"01848"	"Familial, autosomal dominant"	"27y"	"RP, night blindness, constricted with peripheral scotoma"	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000227914"	"04214"	"00300603"	"01848"	"Familial, autosomal dominant"	"49y"	"RP, photophobia, constricted with peripheral scotoma"	"12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000233257"	"00198"	"00307697"	"01164"	"Unknown"	""	"Abnormality of the eye (HP:0000478); Rod-cone dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	""	""
"0000234628"	"04214"	"00309308"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234629"	"04214"	"00309309"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234630"	"04214"	"00309310"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234631"	"04214"	"00309311"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234986"	"00198"	"00309667"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	""	""
"0000242075"	"04214"	"00320031"	"00008"	"Familial, autosomal dominant"	""	"age: 79y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242076"	"04214"	"00320032"	"00008"	"Familial, autosomal dominant"	""	"age: 70y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242077"	"04214"	"00320033"	"00008"	"Familial, autosomal dominant"	""	"age: 43y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242078"	"04214"	"00320034"	"00008"	"Familial, autosomal dominant"	""	"age: 38y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242079"	"04214"	"00320035"	"00008"	"Familial, autosomal dominant"	""	"age: 66y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242080"	"04214"	"00320036"	"00008"	"Familial, autosomal dominant"	""	"age: 41y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242081"	"04214"	"00320037"	"00008"	"Familial, autosomal dominant"	""	"age: 40y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242082"	"04214"	"00320038"	"00008"	"Familial, autosomal dominant"	""	"age: 24y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242083"	"04214"	"00320039"	"00008"	"Familial, autosomal dominant"	""	"age: 70y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242084"	"04214"	"00320040"	"00008"	"Familial, autosomal dominant"	""	"age: 30y"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000242222"	"00198"	"00320176"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	""	""
"0000243970"	"04214"	"00325483"	"00006"	"Familial, autosomal dominant"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243979"	"04214"	"00325492"	"00006"	"Familial, autosomal dominant"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000244011"	"04214"	"00325524"	"00006"	"Familial, autosomal dominant"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246188"	"04214"	"00327961"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246318"	"04214"	"00328091"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246352"	"04214"	"00328125"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246375"	"04214"	"00328148"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000249479"	"04214"	"00331285"	"00000"	"Familial, autosomal dominant"	"44y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250393"	"04214"	"00332206"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250724"	"04214"	"00332536"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"pericentral retinitis pigmentosa"	""
"0000251543"	"04214"	"00333356"	"00000"	"Familial, autosomal dominant"	"39y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251569"	"04214"	"00333382"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000251691"	"04214"	"00333507"	"00000"	"Familial, autosomal dominant"	"52y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251692"	"04214"	"00333508"	"00000"	"Familial, autosomal dominant"	"32y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251693"	"04214"	"00333509"	"00000"	"Familial, autosomal dominant"	"41y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251694"	"04214"	"00333510"	"00000"	"Familial, autosomal dominant"	"31y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251695"	"04214"	"00333511"	"00000"	"Familial, autosomal dominant"	"36y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251712"	"04214"	"00333528"	"00000"	"Familial, autosomal dominant"	"16y"	"clinical category IA1ai"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251749"	"04214"	"00333565"	"00000"	"Familial, autosomal dominant"	"54y"	"clinical category IA1aii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251750"	"04214"	"00333566"	"00000"	"Familial, autosomal dominant"	"21y"	"clinical category IA1aii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251751"	"04214"	"00333567"	"00000"	"Familial, autosomal dominant"	"36y"	"clinical category IA1aii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251752"	"04214"	"00333568"	"00000"	"Familial, autosomal dominant"	"16y"	"clinical category IA1aii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251753"	"04214"	"00333569"	"00000"	"Familial, autosomal dominant"	"38y"	"clinical category IA1aii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251773"	"04214"	"00333589"	"00000"	"Familial, autosomal dominant"	"49y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251774"	"04214"	"00333590"	"00000"	"Familial, autosomal dominant"	"52y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251775"	"04214"	"00333591"	"00000"	"Familial, autosomal dominant"	"38y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251776"	"04214"	"00333592"	"00000"	"Familial, autosomal dominant"	"47y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252513"	"04214"	"00334424"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252514"	"04214"	"00334425"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252515"	"04214"	"00334426"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252615"	"04214"	"00334575"	"00000"	"Unknown"	"19y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000252860"	"00198"	"00335145"	"00000"	"Familial, autosomal dominant"	""	"16y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252861"	"00198"	"00335146"	"00000"	"Unknown"	""	"4y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253023"	"04214"	"00335308"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253029"	"04214"	"00335314"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253030"	"04214"	"00335315"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253342"	"04214"	"00335396"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253352"	"04214"	"00335406"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253387"	"04214"	"00335441"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253517"	"04214"	"00335572"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253518"	"04214"	"00335573"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253519"	"04214"	"00335574"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253520"	"04214"	"00335575"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253521"	"04214"	"00335576"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253522"	"04214"	"00335577"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253523"	"04214"	"00335578"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253524"	"04214"	"00335579"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253525"	"04214"	"00335580"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253573"	"04214"	"00335653"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253574"	"04214"	"00335654"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253575"	"04214"	"00335655"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253576"	"04214"	"00335656"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253577"	"04214"	"00335657"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253578"	"04214"	"00335658"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253579"	"04214"	"00335659"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253580"	"04214"	"00335660"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253581"	"04214"	"00335661"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253582"	"04214"	"00335662"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253583"	"04214"	"00335663"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253851"	"04214"	"00335950"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000253947"	"04214"	"00358732"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253995"	"04214"	"00358780"	"00000"	"Familial, autosomal dominant"	"27y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253996"	"04214"	"00358781"	"00000"	"Familial, autosomal dominant"	"19y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253997"	"04214"	"00358782"	"00000"	"Familial, autosomal dominant"	"57y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253998"	"04214"	"00358783"	"00000"	"Familial, autosomal dominant"	"13y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253999"	"04214"	"00358784"	"00000"	"Familial, autosomal dominant"	"32y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254234"	"04214"	"00358935"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254298"	"04214"	"00359000"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254330"	"04214"	"00359033"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000254409"	"04214"	"00359112"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254421"	"04214"	"00359124"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254433"	"04214"	"00359136"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254435"	"04214"	"00359138"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254458"	"04214"	"00359161"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254484"	"04214"	"00359187"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254508"	"04214"	"00359211"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000258254"	"04214"	"00362888"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258765"	"04214"	"00363404"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258781"	"04214"	"00363420"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258857"	"04214"	"00363507"	"00000"	"Familial, autosomal dominant"	"23y"	"visual acuity R 0.8, L 0.8; bilateral attenuation of retinal arterioles, bone spicule like pigmentation in the periphery retina"	"17y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258858"	"04214"	"00363508"	"00000"	"Familial, autosomal dominant"	"43y"	"visual acuity R 0.4, L 0.2; bilateral attenuation of retinal arterioles, bone spicule like pigmentation in the mid-periphery retina, RPE degeneration, pale optic disc"	"12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267392"	"04214"	"00372063"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267409"	"04214"	"00372080"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267415"	"04214"	"00372086"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267416"	"04214"	"00372087"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267927"	"04214"	"00372648"	"00000"	"Familial, autosomal dominant"	"65y"	"see paper; ..."	"64y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268629"	"04214"	"00373353"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268637"	"04214"	"00373361"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268742"	"04214"	"00373466"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268744"	"04214"	"00373468"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269048"	"04214"	"00373839"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270124"	"04214"	"00374914"	"00000"	"Isolated (sporadic)"	"67y"	"best corrected visual acuity 0.07/0.08"	"20y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270130"	"04214"	"00374920"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity light perception/light perception"	"41y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270132"	"04214"	"00374922"	"00000"	"Isolated (sporadic)"	"43y"	"best corrected visual acuity 0.08/0.08"	"39y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270516"	"04214"	"00375302"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270517"	"04214"	"00375303"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270552"	"04214"	"00375338"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270661"	"04214"	"00375447"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270662"	"04214"	"00375448"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271399"	"04214"	"00376189"	"00000"	"Di-genic"	""	""	""	""	""	""	""	""	""	""	""	"multiplex renitis pigmentosa"	""
"0000271689"	"04214"	"00376482"	"00000"	"Familial"	"48y"	"bone-spicule pigmentation,narrow vessels, pale disc."	"5y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271690"	"04214"	"00376483"	"00000"	"Familial"	"45y"	"bone-spicule pigmentation, depigmentation."	"20y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271691"	"04214"	"00376484"	"00000"	"Familial"	"42y"	"bone-spicule pigmentation, depigmentation,narrow vessels, pale disc."	"10y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271692"	"04214"	"00376485"	"00000"	"Familial"	"40y"	"bone-spicule pigmentation, depigmentation, narrow vessels, pale disc, choriocapillaris atrophy,"	"10y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271693"	"04214"	"00376486"	"00000"	"Familial"	"38y"	"bone-spicule pigmentation,depigmentation,narrow vessels,pale disc, macular lesion"	"15y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271694"	"04214"	"00376487"	"00000"	"Familial"	"35y"	"bone-spicule pigmentation, depigmentation"	"25y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271695"	"04214"	"00376488"	"00000"	"Familial"	"33y"	"narrow vessels, pale disc"	"15y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271696"	"04214"	"00376489"	"00000"	"Familial"	"24y"	"narrow vessels, pale disc"	"4y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271697"	"04214"	"00376490"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271698"	"04214"	"00376491"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271699"	"04214"	"00376492"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271700"	"04214"	"00376493"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271701"	"04214"	"00376494"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271702"	"04214"	"00376495"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271703"	"04214"	"00376496"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271704"	"04214"	"00376497"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271705"	"04214"	"00376498"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271706"	"04214"	"00376499"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271707"	"04214"	"00376500"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000272024"	"04214"	"00376814"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272032"	"04214"	"00376822"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272034"	"04214"	"00376824"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272324"	"04214"	"00377166"	"00000"	"Familial, autosomal dominant"	"44y"	"see paper"	"3y"	"7y"	""	""	""	""	""	""	"retinitis pigmentosa, type 11 (RP11)"	"retinal disease"	""
"0000272325"	"04214"	"00377167"	"00000"	"Familial, autosomal dominant"	""	"see paper"	"3y"	"7y"	""	""	""	""	""	""	"retinitis pigmentosa, type 11 (RP11)"	"retinal disease"	""
"0000272546"	"04214"	"00377396"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272547"	"04214"	"00377397"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272548"	"04214"	"00377398"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272549"	"04214"	"00377399"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272550"	"04214"	"00377400"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272551"	"04214"	"00377401"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272552"	"04214"	"00377402"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272553"	"04214"	"00377403"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272554"	"04214"	"00377404"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272555"	"04214"	"00377405"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272556"	"04214"	"00377406"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272557"	"04214"	"00377407"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272558"	"04214"	"00377408"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272559"	"04214"	"00377409"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272560"	"04214"	"00377410"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272561"	"04214"	"00377411"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272655"	"04214"	"00377505"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272656"	"04214"	"00377506"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272657"	"04214"	"00377507"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272658"	"04214"	"00377508"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272659"	"04214"	"00377509"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000272876"	"04214"	"00377725"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa"	""
"0000273086"	"04214"	"00377940"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273216"	"04214"	"00379343"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000273404"	"04214"	"00379531"	"00000"	"Familial, autosomal dominant"	"53y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""
"0000273470"	"04214"	"00379616"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant retinitis pigmentosa (adRP)"	""
"0000273471"	"04214"	"00379617"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant retinitis pigmentosa (adRP)"	""
"0000273714"	"04214"	"00379860"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273715"	"04214"	"00379861"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000273716"	"04214"	"00379862"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273948"	"00112"	"00380093"	"03508"	"Familial, autosomal dominant"	""	"HP:0032122,\tHP:0000662,\tHP:0001133,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274045"	"04214"	"00380190"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000274058"	"04214"	"00380203"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000274059"	"04214"	"00380204"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000274698"	"04214"	"00380845"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274699"	"04214"	"00380846"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274700"	"04214"	"00380847"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274701"	"04214"	"00380848"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274702"	"04214"	"00380849"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274703"	"04214"	"00380850"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274860"	"04214"	"00381009"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274950"	"04214"	"00381099"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"isolated retinitis pigmentaria"	""
"0000275085"	"04214"	"00381234"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"juvenile retinitis pigmentosa"	""
"0000275447"	"04214"	"00381605"	"00000"	"Isolated (sporadic)"	""	""	"38y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275448"	"04214"	"00381606"	"00000"	"Isolated (sporadic)"	""	""	"36y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275461"	"04214"	"00381619"	"00000"	"Familial, autosomal dominant"	""	""	"18y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275502"	"04214"	"00381660"	"00000"	"Familial, autosomal dominant"	""	""	"55y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275505"	"04214"	"00381663"	"00000"	"Isolated (sporadic)"	""	""	"14y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275523"	"04214"	"00381681"	"00000"	"Isolated (sporadic)"	""	""	"27y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275540"	"04214"	"00381698"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000275550"	"04214"	"00381708"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000275553"	"04214"	"00381711"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000275609"	"04214"	"00381767"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275610"	"04214"	"00381768"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275611"	"04214"	"00381769"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275612"	"04214"	"00381770"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275613"	"04214"	"00381771"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275614"	"04214"	"00381772"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275615"	"04214"	"00381773"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275616"	"04214"	"00381774"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000275738"	"04214"	"00381896"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275739"	"04214"	"00381897"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275740"	"04214"	"00381898"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275741"	"04214"	"00381899"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275742"	"04214"	"00381900"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275743"	"04214"	"00381901"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275744"	"04214"	"00381902"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275745"	"04214"	"00381903"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276200"	"04214"	"00382351"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276201"	"04214"	"00382352"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276202"	"04214"	"00382353"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276203"	"04214"	"00382354"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276204"	"04214"	"00382355"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276205"	"04214"	"00382356"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276206"	"04214"	"00382357"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276207"	"04214"	"00382358"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276208"	"04214"	"00382359"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276209"	"04214"	"00382360"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276214"	"04214"	"00382365"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276222"	"04214"	"00382373"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276428"	"04214"	"00382579"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276429"	"04214"	"00382580"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Generalized retinal dystrophy (non-syndromic)"	""
"0000276430"	"04214"	"00382581"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276850"	"04214"	"00383060"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276851"	"04214"	"00383061"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276854"	"04214"	"00383064"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276855"	"04214"	"00383065"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276865"	"04214"	"00383075"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276875"	"04214"	"00383085"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276879"	"04214"	"00383089"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276881"	"04214"	"00383091"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276886"	"04214"	"00383096"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000277605"	"04214"	"00383820"	"00000"	"Familial, autosomal dominant"	"28y"	"BCVA OD-OS: 20/60-20/25"	""	"18y"	""	""	""	""	""	""	""	""	""
"0000277606"	"04214"	"00383821"	"00000"	"Familial, autosomal dominant"	"48y"	"BCVA OD-OS: 20/40-20/40"	""	"45y"	""	""	""	""	""	""	""	""	""
"0000277607"	"04214"	"00383822"	"00000"	"Familial, autosomal dominant"	"50y"	"BCVA OD-OS: 20/20-20/20"	""	"41y"	""	""	""	""	""	""	""	""	""
"0000278228"	"04214"	"00384443"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease+myopia"	""
"0000278422"	"00198"	"00384632"	"00000"	"Unknown"	""	"Retinitis pigmentosa (AD) and hearing loss (?)"	""	""	""	""	""	""	""	""	"Mixed"	"Usher syndrome"	""
"0000278897"	"04214"	"00385115"	"00000"	"Familial, autosomal dominant"	"62y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000278898"	"04214"	"00385116"	"00000"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000278899"	"04214"	"00385117"	"00000"	"Familial, autosomal dominant"	"56y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279540"	"04214"	"00385727"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279651"	"04214"	"00385847"	"00000"	"Familial, autosomal dominant"	"40y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279975"	"04214"	"00386172"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000280017"	"04214"	"00386214"	"00000"	"Familial, autosomal dominant"	"28y"	""	""	"20y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280018"	"04214"	"00386215"	"00000"	"Familial, autosomal dominant"	"24y"	""	""	"17y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280019"	"04214"	"00386216"	"00000"	"Familial, autosomal dominant"	"19y"	""	""	"12y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280024"	"04214"	"00386221"	"00000"	"Familial, autosomal dominant"	"53y"	""	""	"45y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280061"	"04214"	"00386258"	"00000"	"Familial, autosomal dominant"	"29y"	""	""	"25y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280345"	"04214"	"00386545"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280359"	"04214"	"00386559"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280361"	"04214"	"00386561"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280366"	"04214"	"00386566"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280381"	"04214"	"00386581"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280392"	"04214"	"00386592"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280404"	"04214"	"00386604"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280416"	"04214"	"00386616"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280448"	"04214"	"00386648"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280454"	"04214"	"00386654"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280485"	"04214"	"00386685"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280495"	"04214"	"00386695"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280496"	"04214"	"00386696"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280498"	"04214"	"00386698"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280502"	"04214"	"00386702"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280535"	"04214"	"00386735"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280546"	"04214"	"00386746"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280555"	"04214"	"00386755"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280568"	"04214"	"00386768"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280572"	"04214"	"00386772"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280585"	"04214"	"00386785"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280628"	"04214"	"00386828"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280650"	"04214"	"00386850"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280654"	"04214"	"00386854"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280759"	"04214"	"00386981"	"00000"	"Familial, autosomal dominant"	"22y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280760"	"04214"	"00386982"	"00000"	"Familial, autosomal dominant"	"83y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280761"	"04214"	"00386983"	"00000"	"Familial, autosomal dominant"	"15y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280762"	"04214"	"00386984"	"00000"	"Familial, autosomal dominant"	"48y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280763"	"04214"	"00386985"	"00000"	"Familial, autosomal dominant"	"49y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280764"	"04214"	"00386986"	"00000"	"Familial, autosomal dominant"	"12y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280765"	"04214"	"00386987"	"00000"	"Familial, autosomal dominant"	"24y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280766"	"04214"	"00386988"	"00000"	"Familial, autosomal dominant"	"22y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280767"	"04214"	"00386989"	"00000"	"Familial, autosomal dominant"	"37y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280768"	"04214"	"00386990"	"00000"	"Familial, autosomal dominant"	"55y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280945"	"04214"	"00387382"	"00000"	"Familial, autosomal recessive"	"55y"	"posterior subcapsular cataract, peripheral  choroidal atrophy, negative family history, BCVA OD/OS: 0.02/0.3"	"4y"	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000282058"	"04214"	"00388506"	"00000"	"Unknown"	"15y"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	""
"0000282269"	"04214"	"00388728"	"00000"	"Familial, autosomal dominant"	"64y"	"age at genetic diagnosis mentioned"	""	"59y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282270"	"04214"	"00388729"	"00000"	"Familial, autosomal dominant"	"85y"	"age at genetic diagnosis mentioned"	""	"80y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282271"	"04214"	"00388730"	"00000"	"Familial, autosomal dominant"	"41y"	"age at genetic diagnosis mentioned"	""	"35y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282313"	"04214"	"00388772"	"00000"	"Familial, autosomal dominant"	"66y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282314"	"04214"	"00388773"	"00000"	"Familial, autosomal dominant"	"63y"	"age at genetic diagnosis mentioned"	""	"57y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282315"	"04214"	"00388774"	"00000"	"Familial, autosomal dominant"	"68y"	"age at genetic diagnosis mentioned"	""	"62y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282316"	"04214"	"00388775"	"00000"	"Familial, autosomal dominant"	"37y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282317"	"04214"	"00388776"	"00000"	"Familial, autosomal dominant"	"54y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282318"	"04214"	"00388777"	"00000"	"Familial, autosomal dominant"	"30y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282319"	"04214"	"00388778"	"00000"	"Familial, autosomal dominant"	"96y"	"age at genetic diagnosis mentioned"	""	"90y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282500"	"04214"	"00388959"	"00000"	"Familial, autosomal dominant"	"69y"	"age at genetic diagnosis mentioned"	""	"64y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282501"	"04214"	"00388960"	"00000"	"Familial, autosomal dominant"	"66y"	"age at genetic diagnosis mentioned"	""	"61y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282733"	"04214"	"00389192"	"00000"	"Familial, autosomal dominant"	"56y"	"age at genetic diagnosis mentioned"	""	"52y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282734"	"04214"	"00389193"	"00000"	"Familial, autosomal dominant"	"85y"	"age at genetic diagnosis mentioned"	""	"81y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282737"	"04214"	"00389196"	"00000"	"Familial, autosomal dominant"	"53y"	"age at genetic diagnosis mentioned"	""	"44y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282738"	"04214"	"00389197"	"00000"	"Familial, autosomal dominant"	"22y"	"age at genetic diagnosis mentioned"	""	"14y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282785"	"04214"	"00389244"	"00000"	"Familial, autosomal dominant"	"55y"	"age at genetic diagnosis mentioned"	""	"47y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282973"	"04214"	"00389432"	"00000"	"Familial, autosomal dominant"	"33y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282974"	"04214"	"00389433"	"00000"	"Familial, autosomal dominant"	"78y"	"age at genetic diagnosis mentioned"	""	"69y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282988"	"04214"	"00389447"	"00000"	"Familial, autosomal dominant"	"61y"	"age at genetic diagnosis mentioned"	""	"54y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282989"	"04214"	"00389448"	"00000"	"Familial, autosomal dominant"	"80y"	"age at genetic diagnosis mentioned"	""	"74y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282990"	"04214"	"00389449"	"00000"	"Familial, autosomal dominant"	"37y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283077"	"04214"	"00389536"	"00000"	"Familial, autosomal dominant"	"78y"	"age at genetic diagnosis mentioned"	""	"72y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283089"	"04214"	"00389548"	"00000"	"Familial, autosomal dominant"	"43y"	"age at genetic diagnosis mentioned"	""	"37y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283090"	"04214"	"00389549"	"00000"	"Familial, autosomal dominant"	"37y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283091"	"04214"	"00389550"	"00000"	"Familial, autosomal dominant"	"66y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283092"	"04214"	"00389551"	"00000"	"Familial, autosomal dominant"	"40y"	"age at genetic diagnosis mentioned"	""	"34y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283093"	"04214"	"00389552"	"00000"	"Familial, autosomal dominant"	"68y"	"age at genetic diagnosis mentioned"	""	"62y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283112"	"04214"	"00389571"	"00000"	"Familial, autosomal dominant"	"25y"	"age at genetic diagnosis mentioned"	""	"19y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283113"	"04214"	"00389572"	"00000"	"Familial, autosomal dominant"	"54y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283115"	"04214"	"00389574"	"00000"	"Familial, autosomal dominant"	"36y"	"age at genetic diagnosis mentioned"	""	"30y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283129"	"04214"	"00389588"	"00000"	"Familial, autosomal dominant"	"36y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283130"	"04214"	"00389589"	"00000"	"Familial, autosomal dominant"	"60y"	"age at genetic diagnosis mentioned"	""	"55y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283137"	"04214"	"00389596"	"00000"	"Familial, autosomal dominant"	"59y"	"age at genetic diagnosis mentioned"	""	"54y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283175"	"04214"	"00389634"	"00000"	"Isolated (sporadic)"	"37y"	"age at genetic diagnosis mentioned"	""	"35y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283182"	"04214"	"00389641"	"00000"	"Isolated (sporadic)"	"21y"	"age at genetic diagnosis mentioned"	""	"16y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283185"	"04214"	"00389644"	"00000"	"Familial, autosomal dominant"	"65y"	"age at genetic diagnosis mentioned"	""	"61y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283189"	"04214"	"00389648"	"00000"	"Familial, autosomal dominant"	"77y"	"age at genetic diagnosis mentioned"	""	"73y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283192"	"04214"	"00389651"	"00000"	"Familial, autosomal dominant"	"49y"	"age at genetic diagnosis mentioned"	""	"45y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283196"	"04214"	"00389655"	"00000"	"Familial, autosomal dominant"	"53y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283197"	"04214"	"00389656"	"00000"	"Familial, autosomal dominant"	"71y"	"age at genetic diagnosis mentioned"	""	"67y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283201"	"04214"	"00389660"	"00000"	"Isolated (sporadic)"	"37y"	"age at genetic diagnosis mentioned"	""	"35y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283205"	"04214"	"00389664"	"00000"	"Familial, autosomal dominant"	"57y"	"age at genetic diagnosis mentioned"	""	"55y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283206"	"04214"	"00389665"	"00000"	"Familial, autosomal dominant"	"32y"	"age at genetic diagnosis mentioned"	""	"30y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283241"	"04214"	"00389700"	"00000"	"Familial, autosomal dominant"	"70y"	"age at genetic diagnosis mentioned"	""	"69y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283244"	"04214"	"00389703"	"00000"	"Familial, autosomal dominant"	"57y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283245"	"04214"	"00389704"	"00000"	"Familial, autosomal dominant"	"35y"	"age at genetic diagnosis mentioned"	""	"35y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283246"	"04214"	"00389705"	"00000"	"Familial, autosomal dominant"	"61y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283337"	"04214"	"00389796"	"00000"	"Isolated (sporadic)"	"45y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283366"	"04214"	"00389825"	"00000"	"Isolated (sporadic)"	"49y"	"age at genetic diagnosis mentioned"	""	"45y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283395"	"04214"	"00389854"	"00000"	"Isolated (sporadic)"	"31y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283402"	"04214"	"00389861"	"00000"	"Isolated (sporadic)"	"24y"	"age at genetic diagnosis mentioned"	""	"19y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283412"	"04214"	"00389871"	"00000"	"Isolated (sporadic)"	"28y"	"age at genetic diagnosis mentioned"	""	"23y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283419"	"04214"	"00389878"	"00000"	"Isolated (sporadic)"	"33y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283482"	"04214"	"00389941"	"00000"	"Isolated (sporadic)"	"49y"	"age at genetic diagnosis mentioned"	""	"48y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283489"	"04214"	"00389948"	"00000"	"Isolated (sporadic)"	"24y"	"age at genetic diagnosis mentioned"	""	"22y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283524"	"04214"	"00389983"	"00000"	"Isolated (sporadic)"	"82y"	"age at genetic diagnosis mentioned"	""	"81y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283531"	"04214"	"00389990"	"00000"	"Isolated (sporadic)"	"76y"	"age at genetic diagnosis mentioned"	""	"75y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283547"	"04214"	"00390006"	"00000"	"Isolated (sporadic)"	"48y"	"age at genetic diagnosis mentioned"	""	"45y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283548"	"04214"	"00390007"	"00000"	"Isolated (sporadic)"	"34y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283550"	"04214"	"00390009"	"00000"	"Isolated (sporadic)"	"20y"	"age at genetic diagnosis mentioned"	""	"18y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283888"	"04214"	"00390350"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283889"	"04214"	"00390351"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283890"	"04214"	"00390352"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284018"	"04214"	"00390480"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000284019"	"04214"	"00390481"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000285589"	"04214"	"00392313"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right/left eye: 0.7/0.8, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285591"	"04214"	"00392315"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right/left eye: 0.1/0.2, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285595"	"04214"	"00392319"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right/left eye: hand movement/0.1, electroretinograhy responses: extinguished"	"12y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285596"	"04214"	"00392320"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity right/left eye: 1.0/0.8, electroretinograhy responses: extinguished"	"23y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285599"	"04214"	"00392323"	"00000"	"Familial, autosomal dominant"	"11y"	"best corrected visual acuity right/left eye: 0.4/0.4, electroretinograhy responses: rod absent, severe defect of cone function"	"9y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285600"	"04214"	"00392324"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity right/left eye: 0.3/0.3, electroretinograhy responses: extinguished"	"4y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285607"	"04214"	"00392331"	"00000"	"Familial, autosomal dominant"	"52y"	"best corrected visual acuity right/left eye: 0.04/0.05, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285615"	"04214"	"00392339"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity right/left eye: 0.04/0.1, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285616"	"04214"	"00392340"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right/left eye: 0.5/0.25, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285618"	"04214"	"00392342"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right/left eye: 0.5/0.5, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285620"	"04214"	"00392344"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right/left eye: 0.4/0.3, electroretinograhy responses: extinguished"	"7y6m"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285621"	"04214"	"00392345"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity right/left eye: 0.05/0.5, electroretinograhy responses: extinguished"	"3y6m"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285627"	"04214"	"00392351"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity right/left eye: 0.1/0.1, electroretinograhy responses: not available"	"15y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285630"	"04214"	"00392354"	"00000"	"Familial, autosomal dominant"	"24y"	"best corrected visual acuity right/left eye: 0.15/0.08, electroretinograhy responses: rod absent, severe defect of cone function"	"4y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285632"	"04214"	"00392356"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye: 0.4/0.1, electroretinograhy responses: not available"	"2y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285635"	"04214"	"00392359"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right/left eye: 0.1/0.1, electroretinograhy responses: not available"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285648"	"04214"	"00392372"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right/left eye: 0.08/counting fingers, electroretinograhy responses: not available"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285653"	"04214"	"00392377"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right/left eye: 0.3/0.3, electroretinograhy responses: not available"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285654"	"04214"	"00392378"	"00000"	"Familial, autosomal dominant"	"6y"	"best corrected visual acuity right/left eye: 0.3/0.5, electroretinograhy responses: extinguished"	"1y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285660"	"04214"	"00392384"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye: 0.1/0.05, electroretinograhy responses: rod absent, severe defect of cone function"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000286720"	"04214"	"00393514"	"00000"	"Familial, autosomal dominant"	"32y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286782"	"04214"	"00393576"	"00000"	"Familial, autosomal dominant"	"54y"	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000286806"	"04214"	"00393600"	"00000"	"Isolated (sporadic)"	"53y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286865"	"04214"	"00393659"	"00000"	"Isolated (sporadic)"	"16y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286874"	"04214"	"00393668"	"00000"	"Isolated (sporadic)"	"49y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286887"	"04214"	"00393681"	"00000"	"Familial, autosomal dominant"	"44y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286899"	"04214"	"00393693"	"00000"	"Isolated (sporadic)"	"18y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286954"	"04214"	"00393748"	"00000"	"Familial, autosomal dominant"	"12y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286963"	"04214"	"00393757"	"00000"	"Isolated (sporadic)"	"54y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000286999"	"04214"	"00393793"	"00000"	"Familial, autosomal dominant"	"48y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287030"	"04214"	"00393824"	"00000"	"Isolated (sporadic)"	"60y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287115"	"04214"	"00393909"	"00000"	"Familial, autosomal dominant"	"43y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287531"	"04214"	"00394327"	"00000"	"Familial, autosomal dominant"	""	"Late-onset RP, ERG consistent with RP"	""	"41y"	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287532"	"04214"	"00394328"	"00000"	"Familial, autosomal dominant"	""	"Late-onset RP, ERG consistent with RP"	""	"30y"	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287688"	"04214"	"00394485"	"00000"	"Familial, autosomal dominant"	"33y"	""	"1y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287689"	"04214"	"00394486"	"00000"	"Familial, autosomal dominant"	"31y"	""	"8y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287690"	"04214"	"00394487"	"00000"	"Familial, autosomal dominant"	"88y"	""	"6y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287691"	"04214"	"00394488"	"00000"	"Familial, autosomal dominant"	"39y"	""	""	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287692"	"04214"	"00394489"	"00000"	"Familial, autosomal dominant"	"46y"	""	"5y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289014"	"04214"	"00395852"	"00000"	"Unknown"	"47y"	""	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289024"	"04214"	"00395862"	"00000"	"Unknown"	"54y1m"	""	"1y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289039"	"04214"	"00395877"	"00000"	"Unknown"	"21y2m"	""	"15y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289053"	"04214"	"00395891"	"00000"	"Unknown"	"38y4m"	""	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289078"	"04214"	"00395916"	"00000"	"Unknown"	"63y6m"	""	"21y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289093"	"04214"	"00395931"	"00000"	"Unknown"	"33y8m"	""	"15y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289112"	"04214"	"00395950"	"00000"	"Unknown"	"67y11m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289590"	"04214"	"00396428"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000289645"	"04214"	"00396484"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (Dominant)"	""	""
"0000289683"	"04214"	"00396522"	"00000"	"Isolated (sporadic)"	"45y"	"night blindness"	"<12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000289796"	"04214"	"00396635"	"00000"	"Isolated (sporadic)"	"13y"	"night blindness"	"13y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000311680"	"04214"	"00420432"	"00000"	"Familial, autosomal dominant"	"33y8m"	""	"15y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311681"	"04214"	"00420433"	"00000"	"Familial, autosomal dominant"	"38y4m"	""	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311696"	"04214"	"00420448"	"00000"	"Familial, autosomal dominant"	"47y"	""	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311736"	"04214"	"00420488"	"00000"	"Familial, autosomal dominant"	"67y11m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311754"	"04214"	"00420506"	"00000"	"Familial, autosomal dominant"	"21y2m"	""	"15y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311801"	"04214"	"00420553"	"00000"	"Familial, autosomal dominant"	"54y1m"	""	"1y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311810"	"04214"	"00420562"	"00000"	"Familial, autosomal dominant"	"63y6m"	""	"21y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312046"	"04214"	"00420799"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312047"	"04214"	"00420800"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312048"	"04214"	"00420801"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312049"	"04214"	"00420802"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312050"	"04214"	"00420803"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312051"	"04214"	"00420804"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312052"	"04214"	"00420805"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312053"	"04214"	"00420806"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312054"	"04214"	"00420807"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312055"	"04214"	"00420808"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312056"	"04214"	"00420809"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312057"	"04214"	"00420810"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312058"	"04214"	"00420811"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312059"	"04214"	"00420812"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312060"	"04214"	"00420813"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312061"	"04214"	"00420814"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312062"	"04214"	"00420815"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312063"	"04214"	"00420816"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312064"	"04214"	"00420817"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312065"	"04214"	"00420818"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312066"	"04214"	"00420819"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312067"	"04214"	"00420820"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312068"	"04214"	"00420821"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312069"	"04214"	"00420822"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312070"	"04214"	"00420823"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312071"	"04214"	"00420824"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312072"	"04214"	"00420825"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312073"	"04214"	"00420826"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312074"	"04214"	"00420827"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316168"	"04214"	"00424974"	"00000"	"Familial, autosomal dominant"	"43y"	"39y: difficulty with dark adaptation and driving at night; reduction in her field of vision; general health good; 4 years follow-up: her best corrected visual acuity right, left eye: 6/6- 3, 6/7.5; peripheral vision deteriorated from an isolated mid-peripheral scotoma to tunnel vision; fundoscopy: widespread bilateral bone spicule pigmentation, attenuated retinal vessels and pale optic nerves typical of retinitis pigmentosa; no evidence of lens opacities or macula oedema in either eye"	"39y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316169"	"04214"	"00424975"	"00000"	"Familial, autosomal dominant"	"48y"	"visual acuity (ETDRS) right/left eye: 85/84; visual field diameter:25/25"	"48y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316170"	"04214"	"00424976"	"00000"	"Familial, autosomal dominant"	"13y"	"visual acuity (ETDRS) right/left eye: 85/84; visual field diameter:30/30"	"13y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316171"	"04214"	"00424977"	"00000"	"Familial, autosomal dominant"	"52y"	"visual acuity (ETDRS) right/left eye: 61/63; visual field diameter:25/25"	"29y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316172"	"04214"	"00424978"	"00000"	"Familial, autosomal dominant"	"30y"	"visual acuity (ETDRS) right/left eye: 77/64; visual field diameter:>30/>30"	"28y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316173"	"04214"	"00424979"	"00000"	"Familial, autosomal dominant"	"70y"	"visual acuity (ETDRS) right/left eye: 23/51; visual field diameter:10/10"	"27y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316174"	"04214"	"00424980"	"00000"	"Familial, autosomal dominant"	"24y"	"visual acuity (ETDRS) right/left eye: 74/69; visual field diameter:10/10"	"12y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316175"	"04214"	"00424981"	"00000"	"Familial, autosomal dominant"	"41y"	"visual acuity (ETDRS) right/left eye: 65/65; visual field diameter:20/20"	"40y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316176"	"04214"	"00424982"	"00000"	"Familial, autosomal dominant"	"42y"	"asymptomatic; visual acuity (ETDRS) right/left eye: 82/89; visual field diameter:>30/>30"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316177"	"04214"	"00424983"	"00000"	"Familial, autosomal dominant"	"12y"	"asymptomatic/presymptomatic; visual acuity (ETDRS) right/left eye: 92/91; visual field diameter:>30/>30"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316178"	"04214"	"00424984"	"00000"	"Familial, autosomal dominant"	"9y"	"asymptomatic/presymptomatic; visual acuity (ETDRS) right/left eye: 90/90; visual field diameter:>30/>30"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316179"	"04214"	"00424985"	"00000"	"Familial, autosomal dominant"	"14y"	"asymptomatic/presymptomatic; visual acuity (ETDRS) right/left eye: 90/91; visual field diameter:>30/>30"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316180"	"04214"	"00424986"	"00000"	"Familial, autosomal dominant"	"36y"	"visual acuity (ETDRS) right/left eye: 90/90; visual field diameter:>30/>30"	"28y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316181"	"04214"	"00424987"	"00000"	"Familial, autosomal dominant"	"58y"	"visual acuity (ETDRS) right/left eye: 71/71; visual field diameter:15/15"	"17y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316182"	"04214"	"00424988"	"00000"	"Familial, autosomal dominant"	"10y"	"visual acuity (ETDRS) right/left eye: 75/75"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316183"	"04214"	"00424989"	"00000"	"Familial, autosomal dominant"	"62y"	"visual acuity (ETDRS) right/left eye: 63/53; visual field diameter:10/10"	"29y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316184"	"04214"	"00424990"	"00000"	"Familial, autosomal dominant"	"71y"	"visual acuity (ETDRS) right/left eye: 88/82; visual field diameter:>30/>30"	"71y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316185"	"04214"	"00424991"	"00000"	"Familial, autosomal dominant"	"31y"	"visual acuity (ETDRS) right/left eye: 30/65; visual field diameter:10/20"	"19y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316186"	"04214"	"00424992"	"00000"	"Familial, autosomal dominant"	"44y"	"visual acuity (ETDRS) right/left eye: 44/42; visual field diameter:5/5"	"6y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316187"	"04214"	"00424993"	"00000"	"Familial, autosomal dominant"	"63y"	"visual acuity (ETDRS) right/left eye: 75/75; visual field diameter:>30/>30"	"63y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316188"	"04214"	"00424994"	"00000"	"Familial, autosomal dominant"	"65y"	"visual acuity (ETDRS) right/left eye: 58/61; visual field diameter:10/-"	"41y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316189"	"04214"	"00424995"	"00000"	"Familial, autosomal dominant"	"44y"	"visual acuity (ETDRS) right/left eye: 65/70"	"21y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316190"	"04214"	"00424996"	"00000"	"Familial, autosomal dominant"	"46y"	"visual acuity (ETDRS) right/left eye: 55/55"	"46y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316191"	"04214"	"00424997"	"00000"	"Familial, autosomal dominant"	"50y"	"visual acuity (ETDRS) right/left eye: 70/75; visual field diameter:10/10"	"25y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316192"	"04214"	"00424998"	"00000"	"Familial, autosomal dominant"	"52y"	"visual acuity (ETDRS) right/left eye: 63/69; visual field diameter:10/10"	"14y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316193"	"04214"	"00424999"	"00000"	"Familial, autosomal dominant"	"77y"	"asymptomatic; visual acuity (ETDRS) right/left eye: 87/89; visual field diameter:>30/>30"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316194"	"04214"	"00425000"	"00000"	"Familial, autosomal dominant"	"37y"	"visual acuity (ETDRS) right/left eye: 79/68; visual field diameter:15/15"	"16y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316195"	"04214"	"00425001"	"00000"	"Familial, autosomal dominant"	"21y"	"visual acuity (ETDRS) right/left eye: 85/85"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316196"	"04214"	"00425002"	"00000"	"Familial, autosomal dominant"	"48y"	"visual acuity (ETDRS) right/left eye: 65/65"	"17y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316197"	"04214"	"00425003"	"00000"	"Familial, autosomal dominant"	"16y"	"visual acuity (ETDRS) right/left eye: 85/85"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316198"	"04214"	"00425004"	"00000"	"Familial, autosomal dominant"	"47y"	"visual acuity (ETDRS) right/left eye: 69/49; visual field diameter:15/10"	"16y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316199"	"04214"	"00425005"	"00000"	"Familial, autosomal dominant"	"9y"	"visual acuity (ETDRS) right/left eye: 65/75; visual field diameter:>30/-"	"7y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316200"	"04214"	"00425006"	"00000"	"Familial, autosomal dominant"	"37y"	"fundus: classic waxy pallor of the optic nerve, retinal atrophy with bony spicules, and vascular attenuation; electroretinography: responses severely reduced and delayed"	""	""	""	""	""	""	""	""	"retinitis pigmentosa and DICER syndrome"	""	""
"0000316936"	"04214"	"00425761"	"00000"	"Familial, autosomal dominant"	"70y"	"asymptomatic or subsymptomatic; symptoms at the time of diagnosis: Poor vision<6/60, <6/60; fundus/optical coherence tomography (OCT) findings: Fundus could not be examined due to bilateral cataract; any other associated eye anomaly: cataract both eyes; age of onset of cataract: after the age of 40 yea"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316937"	"04214"	"00425762"	"00000"	"Familial, autosomal dominant"	"66y"	"symptoms at the time of diagnosis: night blindness, loss in day vision, visual field constriction; best corrected visual acuity right, left eye: 6/24, 6/60; refraction right, left eye: ; fundus/optical coherence tomography (OCT) findings: presence of bone spicules, attenuated retinal blood vessels, pale optic disc, progressive choroideremia. OCT: thinning of foveal region with slight flattening of contour and thinning of rpe more prevalent on macular region; any other associated eye anomaly: cataract both eyes; age of onset of cataract: after the age of 40 yea"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316938"	"04214"	"00425763"	"00000"	"Familial, autosomal dominant"	"65y"	"symptoms at the time of diagnosis: night blindness, loss in day vision, visual field constriction; best corrected visual acuity right, left eye: 6/60, 6/36; refraction right, left eye: error, + 10.0; fundus/optical coherence tomography (OCT) findings: presence of bone spicules, attenuated retinal blood vessels, pale optic disc, progressive choroideremia; any other associated eye anomaly: cataract both eyes; age of onset of cataract: after the age of 40 yea"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316939"	"04214"	"00425764"	"00000"	"Familial, autosomal dominant"	"35y"	"symptoms at the time of diagnosis: night blindness; best corrected visual acuity right, left eye: 6/12, 6/12; fundus/optical coherence tomography (OCT) findings: presence of bone spicules, attenuated retinal blood vessels, pale optic disc. OCT: thinning of rpe; electroretinography: ; any other associated eye anomaly: cataract both eyes; age of onset of cataract: after the age of 40 yea"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316940"	"04214"	"00425765"	"00000"	"Familial, autosomal dominant"	"42y"	"symptoms at the time of diagnosis: night blindness; best corrected visual acuity right, left eye: 6/12, 6/12; refraction right, left eye: - 0.5, - 1.5; fundus/optical coherence tomography (OCT) findings: presence of bone spicules, attenuated retinal blood vessels and pale optic disc. OCT: thinning of rpe and loss of outer photoreceptor layer; any other associated eye anomaly: cataract both eyes; age of onset of cataract: after the age of 40 yea"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316941"	"04214"	"00425766"	"00000"	"Familial, autosomal dominant"	"37y"	"symptoms at the time of diagnosis: night blindness; best corrected visual acuity right, left eye: 6/12, 6/12; refraction right, left eye: - 2.0, - 2.0; fundus/optical coherence tomography (OCT) findings: presence of bone; any other associated eye anomaly: no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316942"	"04214"	"00425767"	"00000"	"Familial, autosomal dominant"	"18y"	"symptoms at the time of diagnosis: night blindness; best corrected visual acuity right, left eye: 6/24, 6/60; refraction right, left eye: + 1.0, + 0.5; fundus/optical coherence tomography (OCT) findings: presence of bone spicules, attenuated retinal blood vessels and pale optic disc. OCT: abnormal foveal depression, wild erm, absence of onl in peripheral region of macula and presence of few intraretinal deposits in rpe; any other associated eye anomaly: no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316943"	"04214"	"00425768"	"00000"	"Familial, autosomal dominant"	"26y"	"asymptomatic or subsymptomatic; symptoms at the time of diagnosis: No RP symptoms; best corrected visual acuity right, left eye: 6/6, 6/6; fundus/optical coherence tomography (OCT) findings: No pigmentary changes. Fundus revealed mottling of retinal pigment epithelial layer and OCT indicated thinning of macular areaSubnormal rod and cone response; any other associated eye anomaly: no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316944"	"04214"	"00425769"	"00000"	"Familial, autosomal dominant"	"35y"	"asymptomatic or subsymptomatic; symptoms at the time of diagnosis: No RP symptoms; best corrected visual acuity right, left eye: 6/9, 6/12; fundus/optical coherence tomography (OCT) findings: No pigmentary changes. Fundus revealed mottling of retinal pigment epithelial layer and OCT indicated thinning of macular areaBoth eyes fullfield ERG concluded nearly extinguished rod response, normal cone response and early rod dysfunctioning; any other associated eye anomaly: no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316954"	"04214"	"00425780"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right, left eye: light perception, 20/60; refraction spherical equivalent right/left eye: pseudophakia/pseudophakia; kinetic perimetry (Goldmann V-4e target): not determined/<5; foveal thickness (um): 77/158"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316955"	"04214"	"00425781"	"00000"	"Familial, autosomal dominant"	"66y"	"best corrected visual acuity right, left eye: 20/60, 20/30; refraction spherical equivalent right/left eye: pseudophakia/pseudophakia; kinetic perimetry (Goldmann V-4e target): <5/<5; foveal thickness (um): 226/218"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316956"	"04214"	"00425782"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right, left eye: 20/30, 20/125; refraction spherical equivalent right/left eye: 0.5; kinetic perimetry (Goldmann V-4e target): 10+ inferior island of vision separated from the central residual island/10+ inferior island of vision separated from the central residual island; foveal thickness (um): 173/157; electroretinogram: rodresponses to a dim flash non-detectable, reduced a-wave and b-wave amplitudes in response to a standard flash with a negative configuration waveform; cone-mediated responses: only mildly reduced in amplitude"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316958"	"04214"	"00425783"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316959"	"04214"	"00425784"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316960"	"04214"	"00425785"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316961"	"04214"	"00425786"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316962"	"04214"	"00425787"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316963"	"04214"	"00425788"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316964"	"04214"	"00425789"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000316965"	"04214"	"00425790"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317040"	"04214"	"00425870"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317041"	"04214"	"00425871"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317042"	"04214"	"00425872"	"00000"	"Familial, autosomal dominant"	""	"bilateral corrected visual acuity 0.6 with childhood onset of night blindness at 6 years old, the vision field concentric contraction less than 15 degrees; ; fundus: typical RP; optic disc waxy, the retinal vessel attenuating, and the osteocyte-like pigment deposited in peripheral retina; electroretinogram: scotopic rod responses of non-detectable, photopic cone responses: non-detectable from all eyes; optical coherence tomography: the ellipsoid bands around the macular area absent"	"10y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317043"	"04214"	"00425873"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317044"	"04214"	"00425874"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317045"	"04214"	"00425875"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317046"	"04214"	"00425876"	"00000"	"Familial, autosomal dominant"	""	"bilateral corrected visual acuity 1.0 with childhood onset of night blindness at 10 years old, the vision field concentric contraction less than 20 degrees; fundus: typical RP; optic disc waxy, the retinal vessel attenuating, and the osteocyte-like pigment deposited in peripheral retina; electroretinogram: scotopic rod responses of non-detectable, photopic cone responses: non-detectable from all eyes; optical coherence tomography: the ellipsoid bands around the macular area absent"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317047"	"04214"	"00425877"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317048"	"04214"	"00425878"	"00000"	"Familial, autosomal dominant"	"24y"	"7y: best corrected visual acuity right/left eye: 1.2/1.5; refraction right, left eye: -0.50 D/-1.25 D x 160, -1.00 D/-1.75 D x 15; anterior segments: normal, no nystagmus or strabismus; fundus examination: diffuse retinal degeneration, slight bone spicule pigmentation in the midperiphery, and narrowed retinal vessels in both eyes - diagnosis of retinitis pigmentosa; no family history, relatives refuse examinations; Goldmann perimetry visual fields for both eyes: relatively preserved at the first visit, severe decrease observed from the age of 16 years; 24y: best corrected visual acuity right/left eye: 0.9/1.0; refraction right, left eye: -4.00 D/-1.25 D x 160, -3.25 D/-1.25 D x 30; visual fields: severe concentric constriction in both eyes fundus autofluorescence: a hyperautofluorescent ring in the parafoveal area and normal autofluorescence inside the ring; optical coherence tomography: both eyes: relatively preserved foveal lamination, apparent thinning of the outer nuclear layer, disruption of the ellipsoid zone from the parafoveal area to the surrounding area; full-field electroretinograms: nonrecordable under all standard stimulus and recording conditions for both eyes"	">8y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317049"	"04214"	"00425879"	"00000"	"Familial, autosomal dominant"	"36y"	"6y: best corrected visual acuity right/left eye: 0.6/0.5 with a refraction right, left eye: -0.50 D, -0.50 D; fundus in both eyes: diffuse retinal degeneration, bone spicules from the vascular arcade to the periphery, and attenuated retinal vessels; final diagnosis of RP; monozygotic twin brother and 2 cousins on his mother’s side who were siblings: also affected; parents and other family members declined both ophthalmic and genetic examinations because of failure to understand the significance of these examinations; Goldmann perimetry: relatively retained visual field area in both eyes, visual field began to decrease significantly from the age of 15 years; 36y: both eyes exhibited severe concentric constriction of 10deg from fixation, as measured with a V-4e target, best corrected visual acuity right/left eye: 0.8/0.7; refraction right, left eye: -0.75 D/-1.50 D x 10, -1.75 D/-0.75 D x 180; fundus autofluorescence for both eyes: a hyperautofluorescent parafoveal ring and hypoautofluorescence in the midperieral area; optical coherence tomography: both eyes outer nuclear layer thinning with retention of the lamellar structures in the foveal area; full-field electroretinograms: nonrecordable under both scotopic and photopic conditions for both eyes"	">8y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317050"	"04214"	"00425880"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317051"	"04214"	"00425881"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317052"	"04214"	"00425882"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317053"	"04214"	"00425883"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317054"	"04214"	"00425884"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317055"	"04214"	"00425885"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317056"	"04214"	"00425886"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317057"	"04214"	"00425887"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317058"	"04214"	"00425888"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"expressed at a lower quantity than wild type"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317059"	"04214"	"00425889"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317060"	"04214"	"00425890"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic (incomplete penetrance)"	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317061"	"04214"	"00425891"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317062"	"04214"	"00425892"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317063"	"04214"	"00425893"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317064"	"04214"	"00425894"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317065"	"04214"	"00425895"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"localized both in nuclei and plasma (wild type in nuclei only)"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317206"	"04214"	"00426042"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317207"	"04214"	"00426043"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317208"	"04214"	"00426044"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317209"	"04214"	"00426045"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317210"	"04214"	"00426046"	"00000"	"Familial, autosomal dominant"	"27y"	"poor binocular vision from an early age; rapid decrease of visual acuity from age 24 on; uncorrected visual acuity: 0.05 with -9.50/-2.50210->0.6+ right eye and 0.02 with -9.25/-2.7525->0.6- left eye; intraocular pressure right/left eye: 15 mm Hg / 18 mm Hg; slit-lamp, anterior segment: transparent cornea, normal anterior chamber depth, round pupil, light reflex sensitivity, transparent lens; indirect ophthalmoscope examination: mottled peripheral retinal pigment epithelium, also in color fundus photographs using retinal camera; fundus changes: waxy yellow optic disc, some visible osteoclastic-like melanin in the retinal equatorial region, and the attenutation of retinal vasculature; ophthalmic AB type ultrasound scan: vitreous body turbidity and posterior vitreous detachment; macular optical coherence tomography: areflexia of nasal and temporal macula oval belt and crack-like dark cavity with low reflection in endodermis of nerve; fluorescein fundus angiography: mottled transmitted fluorescence and blocked fluorescence in peripheral retina and attenuation of retinal blood vessels; visual Įeld analysis using perimetry (Humphrey 740): central tunnel vision (about 10deg) and peripheral visual field defect; standard binocular full-field electroretinogram: did not detect any wav"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317211"	"04214"	"00426047"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317212"	"04214"	"00426048"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317497"	"04214"	"00426345"	"00000"	"Familial, autosomal dominant"	"44y"	"symptoms (age, years):  night blindness: 8; visual field constriction: 9; visual acuity loss: no; best corrected visual acuity right/left eye: 0.2/0.3; visual field: tubular; electroretinogram: nonrecordable; fundus aspect: typical rp; additional findings: bilateral cataracts (42y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317498"	"04214"	"00426346"	"00000"	"Familial, autosomal dominant"	"19y"	"symptoms (age, years):  night blindness: 5; visual field constriction: unknown; visual acuity loss: unknown; best corrected visual acuity right/left eye: 0.5/0.5; visual field: tubular; electroretinogram: nonrecordable; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317499"	"04214"	"00426347"	"00000"	"Familial, autosomal dominant"	"40y"	"symptoms (age, years):  night blindness: 7; visual field constriction: unknown; visual acuity loss: unknown; best corrected visual acuity right/left eye: 0.3/0.3; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp; additional findings: bilateral cataracts (38y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317500"	"04214"	"00426348"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317501"	"04214"	"00426349"	"00000"	"Familial, autosomal dominant"	"27y"	"symptoms (age, years):  night blindness: 14; visual field constriction: 14; visual acuity loss: 20; best corrected visual acuity right/left eye: 0.9/0.9; visual field: tubular + peripheral islands; electroretinogram: nonrecordable; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317502"	"04214"	"00426350"	"00000"	"Familial, autosomal dominant"	"27y"	"symptoms (age, years):  night blindness: 14; visual field constriction: 14; visual acuity loss: 20; best corrected visual acuity right/left eye: 0.7/0.7; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317503"	"04214"	"00426351"	"00000"	"Familial, autosomal dominant"	"24y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: unknown; visual acuity loss: unknown; best corrected visual acuity right/left eye: 0.7/0.6; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317504"	"04214"	"00426352"	"00000"	"Familial, autosomal dominant"	"56y"	"symptoms (age, years):  night blindness: 20; visual field constriction: 20; visual acuity loss: unknown; best corrected visual acuity right/left eye: not available; visual field: not available; electroretinogram: not available; fundus aspect: not available; additional findings: cataract (56y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317505"	"04214"	"00426353"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317506"	"04214"	"00426354"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317507"	"04214"	"00426355"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317508"	"04214"	"00426356"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317509"	"04214"	"00426357"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317510"	"04214"	"00426358"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317511"	"04214"	"00426359"	"00000"	"Familial, autosomal dominant"	"39y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: unknown; visual acuity loss: no; best corrected visual acuity right/left eye: 1/0.6; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317512"	"04214"	"00426360"	"00000"	"Familial, autosomal dominant"	"64y"	"symptoms (age, years):  night blindness: 18; visual field constriction: 40; visual acuity loss: 50; best corrected visual acuity right/left eye: cf/cf; visual field: tubular; electroretinogram: nonrecordable; fundus aspect: typical rp + ma; additional findings: photophobia. dyschromatopsia."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317513"	"04214"	"00426361"	"00000"	"Familial, autosomal dominant"	"40y"	"symptoms (age, years):  night blindness: 10; visual field constriction: 20; visual acuity loss: 35; best corrected visual acuity right/left eye: ; visual field: ; electroretinogram: ; fundus aspect: os cataract (65y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317514"	"04214"	"00426362"	"00000"	"Familial, autosomal dominant"	"16y"	"symptoms (age, years):  night blindness: not available; visual field constriction: not available; visual acuity loss: not available; best corrected visual acuity right/left eye: 0.7/0.7; visual field: tubular + peripheral; electroretinogram: nonrecordable; fundus aspect: typical rp; additional findings: left eye cataract (38y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317515"	"04214"	"00426363"	"00000"	"Familial, autosomal dominant"	"37y"	"symptoms (age, years):  night blindness: 27; visual field constriction: 32; visual acuity loss: no; best corrected visual acuity right/left eye: ; visual field: islands; electroretinogram: ; fundus aspect:"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317516"	"04214"	"00426364"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317517"	"04214"	"00426365"	"00000"	"Familial, autosomal dominant"	">70y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: unknown; visual acuity loss: unknown; best corrected visual acuity right/left eye: 0.7/1; visual field: peripheral constriction +; electroretinogram: not available; fundus aspect: cystoid macular oedema; additional findings: none; generally symptoms at \"\"old age\"\""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317518"	"04214"	"00426366"	"00000"	"Familial, autosomal dominant"	"30y"	"symptoms (age, years):  night blindness: 5; visual field constriction: 7; visual acuity loss: 20; best corrected visual acuity right/left eye: ; visual field: diffuse loss; electroretinogram: ; fundus aspect:"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317519"	"04214"	"00426367"	"00000"	"Familial, autosomal dominant"	"51y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: 14; visual acuity loss: 13; best corrected visual acuity right/left eye: 0.7/0.8; visual field: tubular; electroretinogram: nonrecordable; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317520"	"04214"	"00426368"	"00000"	"Familial, autosomal dominant"	"28y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: 17; visual acuity loss: no; best corrected visual acuity right/left eye: not available; visual field: not available; electroretinogram: not available; fundus aspect: not available; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317521"	"04214"	"00426369"	"00000"	"Familial, autosomal dominant"	"38y"	"symptoms (age, years):  night blindness: 6; visual field constriction: 20; visual acuity loss: 39; best corrected visual acuity right/left eye: 0.2/0.2; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp + ma; additional findings: dyschromatopsia. bilateral"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317522"	"04214"	"00426370"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317523"	"04214"	"00426371"	"00000"	"Familial, autosomal dominant"	"43y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: 7; visual acuity loss: 7; best corrected visual acuity right/left eye: ; visual field: ; electroretinogram: ; fundus aspect: cataracts (25y). os vitrectomized"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317524"	"04214"	"00426372"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317525"	"04214"	"00426373"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317526"	"04214"	"00426374"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317527"	"04214"	"00426375"	"00000"	"Familial, autosomal dominant"	"15y"	"symptoms (age, years):  night blindness: 3; visual field constriction: 5; visual acuity loss: 6; best corrected visual acuity right/left eye: 0.125/0.125; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp + ma; additional findings: bilateral cataracts (50y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317528"	"04214"	"00426376"	"00000"	"Familial, autosomal dominant"	"23y"	"symptoms (age, years):  night blindness: 6; visual field constriction: 22; visual acuity loss: 25; best corrected visual acuity right/left eye: 0.8/0.8; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317529"	"04214"	"00426377"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317530"	"04214"	"00426378"	"00000"	"Familial, autosomal dominant"	"16y"	"symptoms (age, years):  night blindness: 14; visual field constriction: 12; visual acuity loss: no; best corrected visual acuity right/left eye: 0.1/0.1; visual field: not available; electroretinogram: not available; fundus aspect: typical rp; additional findings: cataract (21y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317531"	"04214"	"00426379"	"00000"	"Familial, autosomal dominant"	"14y"	"symptoms (age, years):  night blindness: 13; visual field constriction: no; visual acuity loss: no; best corrected visual acuity right/left eye: 0.1/0.05; visual field: tubular; electroretinogram: not available; fundus aspect: typical rp; additional findings: cataract (30y)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317532"	"04214"	"00426380"	"00000"	"Familial, autosomal dominant"	"41y"	"symptoms (age, years):  night blindness: unknown; visual field constriction: unknown; visual acuity loss: unknown; best corrected visual acuity right/left eye: 0.8/0.6; visual field: not available; electroretinogram: not available; fundus aspect: typical rp; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317533"	"04214"	"00426381"	"00000"	"Familial, autosomal dominant"	"37y"	"symptoms (age, years):  night blindness: not available; visual field constriction: not available; visual acuity loss: not available; best corrected visual acuity right/left eye: 0.8/0.7; visual field: tubular; electroretinogram: scotopic: nonrecordable. photopic: response attenuation; fundus aspect: peripheral pigmentary changes; additional findings: photophobia. dyschromatopsia"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317534"	"04214"	"00426382"	"00000"	"Familial, autosomal dominant"	"36y"	"symptoms (age, years):  night blindness: 20; visual field constriction: 30; visual acuity loss: 35; best corrected visual acuity right/left eye: not available; visual field: peripheral constriction 30deg; electroretinogram: scotopic: nonrecordable. photopic: response attenuation; fundus aspect: not available; additional findings: hypermetropia. astigmatism"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317535"	"04214"	"00426383"	"00000"	"Familial, autosomal dominant"	""	"symptoms (age, years):  night blindness: 9; visual field constriction: 9; visual acuity loss: 16; best corrected visual acuity right/left eye: 1.0/1.0; visual field: peripheral constriction 30deg; electroretinogram: scotopic: nonrecordable. photopic: response attenuation; fundus aspect: pigmentary changes +; additional findings: none"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317546"	"04214"	"00426394"	"00000"	"Familial, autosomal dominant"	"7y"	"symptomatic, early onset; finding: visual field constriction; best corrected visual acuity: 20/10"	"2y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317547"	"04214"	"00426395"	"00000"	"Familial, autosomal dominant"	"54y"	"asymptomatic; finding: none, only electroretinogram dysfunction; best corrected visual acuity: 20/20"	"52y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317548"	"04214"	"00426396"	"00000"	"Familial, autosomal dominant"	"60y"	"asymptomatic; finding: none; best corrected visual acuity: 20/20"	""	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317549"	"04214"	"00426397"	"00000"	"Familial, autosomal dominant"	"38y"	"symptomatic, early onset; finding: dark adaptation difficulty and visual field constriction; best corrected visual acuity: 20/30"	"<10y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317550"	"04214"	"00426398"	"00000"	"Familial, autosomal dominant"	"16y"	"asymptomatic; finding: none; best corrected visual acuity: 20/20"	""	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317551"	"04214"	"00426399"	"00000"	"Familial, autosomal dominant"	"18y"	"symptomatic, late onset; finding: dark adaptation difficulty; best corrected visual acuity: 20/20"	"16y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317552"	"04214"	"00426400"	"00000"	"Familial, autosomal dominant"	"34y"	"symptomatic, early onset; finding: photophobia, dark adaptation difficulty and visual field constriction; best corrected visual acuity: 20/20"	"10y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317553"	"04214"	"00426401"	"00000"	"Familial, autosomal dominant"	"64y"	"asymptomatic; finding: none; best corrected visual acuity: 20/20"	""	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317554"	"04214"	"00426402"	"00000"	"Familial, autosomal dominant"	"63y"	"symptomatic, early onset; finding: dark adaptation difficulty, visual field constriction; best corrected visual acuity: counting fingers 1.5 m"	"6y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317555"	"04214"	"00426403"	"00000"	"Familial, autosomal dominant"	"60y"	"asymptomatic; finding: dark adaptation difficulty; best corrected visual acuity: 20/20"	"?"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317556"	"04214"	"00426404"	"00000"	"Familial, autosomal dominant"	"59y"	"symptomatic, early onset; finding: light preference and visual field constriction; best corrected visual acuity: 20/40"	"10y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317557"	"04214"	"00426405"	"00000"	"Familial, autosomal dominant"	"23y"	"symptomatic, late onset; finding: dark adaptation difficulty; best corrected visual acuity: 20/20"	"15y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317558"	"04214"	"00426406"	"00000"	"Familial, autosomal dominant"	"39y"	"asymptomatic; finding: none; best corrected visual acuity: 20/20"	""	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317559"	"04214"	"00426407"	"00000"	"Familial, autosomal dominant"	"36y"	"symptomatic, late onset; finding: visual field constriction; best corrected visual acuity: 20/30"	"15y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317560"	"04214"	"00426408"	"00000"	"Familial, autosomal dominant"	"28y"	"symptomatic, late onset; finding: dark adaptation difficulty; best corrected visual acuity: 20/20"	"16y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317561"	"04214"	"00426409"	"00000"	"Familial, autosomal dominant"	"32y"	"symptomatic, late onset; finding: dark adaptation difficulty; best corrected visual acuity: 20/20"	"16y"	""	""	"PRPF31 expression in reduced on average by 40% compared to the WT cell lines"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317579"	"04214"	"00426425"	"00000"	"Familial, autosomal dominant"	"82y"	"weigh (kg): 65; height (cm): 173; present visual acuity: <<0.1; symptoms: retinitis pigmentosa, bilateral cataract"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317580"	"04214"	"00426426"	"00000"	"Familial, autosomal dominant"	"13y"	"weigh (kg)t: 26; height (cm): 139; present visual acuity: <<0.1; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317581"	"04214"	"00426427"	"00000"	"Familial, autosomal dominant"	"15y"	"weigh (kg)t: 32; height (cm): 144; present visual acuity: <<0.1; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317582"	"04214"	"00426428"	"00000"	"Familial, autosomal dominant"	"19y"	"weigh (kg)t: 55; height (cm): 170; present visual acuity: 0.2/0.3; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317583"	"04214"	"00426429"	"00000"	"Familial, autosomal dominant"	"19y"	"weigh (kg)t: 50; height (cm): 163; present visual acuity: <<0.1; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317584"	"04214"	"00426430"	"00000"	"Familial, autosomal dominant"	"41y"	"weigh (kg)t: 81; height (cm): 174; present visual acuity: <<0.1; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317585"	"04214"	"00426431"	"00000"	"Familial, autosomal dominant"	"43y"	"weigh (kg)t: 57; height (cm): 160; present visual acuity: 0.3/0.3; symptoms: retinitis pigmentosa, bilateral cataract"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317586"	"04214"	"00426432"	"00000"	"Familial, autosomal dominant"	"51y"	"weigh (kg)t: 50; height (cm): 174; present visual acuity: 0.4/0.6; symptoms: retinitis pigmentosa, fovea centralis areflexia, bilateral cataract"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317587"	"04214"	"00426433"	"00000"	"Familial, autosomal dominant"	"65y"	"weigh (kg)t: 58; height (cm): 178; present visual acuity: <<0.1; symptoms: retinitis pigmentosa, fovea centralis areflexia"	"48y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317588"	"04214"	"00426434"	"00000"	"Familial, autosomal dominant"	"43y"	"weigh (kg)t: 67; height (cm): 152; present visual acuity: <<0.1; symptoms: retinitis pigmentosa, bilateral cataract"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317589"	"04214"	"00426435"	"00000"	"Familial, autosomal dominant"	"68y"	"weigh (kg)t: 50; height (cm): 159; present visual acuity: <<0.1; symptoms: retinitis pigmentosa, bilateral cataract"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317590"	"04214"	"00426436"	"00000"	"Familial, autosomal dominant"	"17y"	"weigh (kg)t: 45; height (cm): 165; present visual acuity: <<0.1; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317591"	"04214"	"00426437"	"00000"	"Familial, autosomal dominant"	"53y"	"weigh (kg)t: 65; height (cm): 158; present visual acuity: 0.2/0.3; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317592"	"04214"	"00426438"	"00000"	"Familial, autosomal dominant"	"55y"	"weigh (kg)t: 43; height (cm): 160; present visual acuity: 0.1/0.1; symptoms: retinitis pigmentosa, bilateral cataract"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317593"	"04214"	"00426439"	"00000"	"Familial, autosomal dominant"	"46y"	"weigh (kg)t: 74; height (cm): 177; present visual acuity: 0.5/0.5; symptoms: retinitis pigmentosa"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317594"	"04214"	"00426440"	"00000"	"Familial, autosomal dominant"	"39y"	"weigh (kg)t: 51; height (cm): 165; present visual acuity: <<0.1; symptoms: retinitis pigmentosa, fovea centralis areflexia"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317595"	"04214"	"00426441"	"00000"	"Familial, autosomal dominant"	"21y"	"weigh (kg)t: 55; height (cm): 170; present visual acuity: <<0.1; symptoms: retinitis pigmentosa, fovea centralis areflexia, JMD"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317596"	"04214"	"00426442"	"00000"	"Familial, autosomal dominant"	"35y"	"weigh (kg)t: 90; height (cm): 180; present visual acuity: normal; symptoms: retinitis pigmentosa"	"9y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317597"	"04214"	"00426443"	"00000"	"Familial, autosomal dominant"	"37y"	"weigh (kg)t: 60; height (cm): 160; present visual acuity: normal; symptoms: retinitis pigmentosa, fovea centralis areflexia"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317598"	"04214"	"00426444"	"00000"	"Familial, autosomal dominant"	"71y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: no light perception/no light perception; cataract; fundus appearance: not available; visual field: not available; electroretinogram: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317599"	"04214"	"00426445"	"00000"	"Familial, autosomal dominant"	"41y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.2/0.3; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 20 degrees; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317600"	"04214"	"00426446"	"00000"	"Familial, autosomal dominant"	"59y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: hand movement/hand movement; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 10 degrees; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317601"	"04214"	"00426447"	"00000"	"Familial, autosomal dominant"	"34y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.6/0.5; no cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 30 degrees; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317602"	"04214"	"00426448"	"00000"	"Familial, autosomal dominant"	"22y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.7/0.8; no cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 30 degrees; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317603"	"04214"	"00426449"	"00000"	"Familial, autosomal dominant"	"54y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: hand movement/hand movement; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 15 degrees; electroretinogram: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317604"	"04214"	"00426450"	"00000"	"Familial, autosomal dominant"	"29y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.4/0.1; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 20 degrees; electroretinogram: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317605"	"04214"	"00426451"	"00000"	"Familial, autosomal dominant"	"49y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.1/0.1; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 15 degrees; electroretinogram: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317606"	"04214"	"00426452"	"00000"	"Familial, autosomal dominant"	"64y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.1/0.2; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: not available; electroretinogram: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317607"	"04214"	"00426453"	"00000"	"Familial, autosomal dominant"	"40y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.2/0.01; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 20 degrees; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317608"	"04214"	"00426454"	"00000"	"Familial, autosomal dominant"	"32y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.4/0.3; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 30 degrees; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317609"	"04214"	"00426455"	"00000"	"Familial, autosomal dominant"	"60y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.1/0.1; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: not available; electroretinogram: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317610"	"04214"	"00426456"	"00000"	"Familial, autosomal dominant"	"33y"	"asymptomatic; no night blindness; best corrected visual acuity right/left eye: 1.2/1.2; no cataract; fundus appearance: no intraretinal bone spicule pigments; visual field: normal; electroretinogram: normal"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317611"	"04214"	"00426457"	"00000"	"Familial, autosomal dominant"	"9y"	"onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.8/0.8; no cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: not available; electroretinogram: undetectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317612"	"04214"	"00426458"	"00000"	"Familial, autosomal dominant"	"71y"	"best corrected visual acuity right/left eye: no light perception / no light perception ; refractve error (diopters) right / left eye: not available; fundus: not available; visual field: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317613"	"04214"	"00426459"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right/left eye: 0.15 / 0.15 ; refractve error (diopters) right / left eye: -6.5 / -6; fundus: optic nerve pallor, peripheral pigmentation; visual field: peripheral ring scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317614"	"04214"	"00426460"	"00000"	"Familial, autosomal dominant"	"55y"	"best corrected visual acuity right/left eye: light perception / light perception ; refractve error (diopters) right / left eye: not available; fundus: not available; visual field: not available"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317615"	"04214"	"00426461"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye: 0.8 / 0.5 ; refractve error (diopters) right / left eye: +2.00 / +1.00 ; fundus: optic nerve pallor, no peripheral pigmentation; visual field: arcuate scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317616"	"04214"	"00426462"	"00000"	"Familial, autosomal dominant"	"39y"	"best corrected visual acuity right/left eye: 1.0 / 1.0 ; refractve error (diopters) right / left eye: -0.25 / -0.15; fundus: optic nerve pallor, peripheral pigmentation; visual field: arcuate scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317617"	"04214"	"00426463"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right/left eye: hand movement / 0.1 ; refractve error (diopters) right / left eye: -4.5 / -6.0; fundus: optic nerve pallor, peripheral pigmentation; visual field: peripheral ring scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317618"	"04214"	"00426464"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right/left eye: 0.4 / 0.4; refractve error (diopters) right / left eye: -7.75 / -7.50; fundus: optic nerve pallor, peripheral pigmentation; visual field: arcuate scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317619"	"04214"	"00426465"	"00000"	"Familial, autosomal dominant"	"29y"	"best corrected visual acuity right/left eye: 0.2 / 0.4; refractve error (diopters) right / left eye: +3.50 / +2.50; fundus: optic nerve pallor, peripheral pigmentation; visual field: peripheral ring scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317620"	"04214"	"00426466"	"00000"	"Familial, autosomal dominant"	"29y"	"best corrected visual acuity right/left eye: 0.15 / 0.4; refractve error (diopters) right / left eye: -3.25 / -2.75; fundus: optic nerve pallor, peripheral pigmentation; visual field: peripheral ring scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317621"	"04214"	"00426467"	"00000"	"Familial, autosomal dominant"	"25y"	"best corrected visual acuity right/left eye: 0.2 / 0.2; refractve error (diopters) right / left eye: +1.00 / +1.00; fundus: optic nerve pallor, peripheral pigmentation; visual field: peripheral ring scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317622"	"04214"	"00426468"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right/left eye: 0.7 / 0.8; refractve error (diopters) right / left eye: -4.50 / -6.0; fundus: optic nerve pallor, peripheral pigmentation; visual field: peripheral ring scotoma"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317914"	"04214"	"00426760"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317915"	"04214"	"00426761"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317916"	"04214"	"00426762"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317917"	"04214"	"00426763"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317918"	"04214"	"00426764"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317919"	"04214"	"00426765"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317920"	"04214"	"00426766"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317921"	"04214"	"00426767"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP11)"	""
"0000317922"	"04214"	"00426768"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317923"	"04214"	"00426769"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317924"	"04214"	"00426770"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317925"	"04214"	"00426771"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317926"	"04214"	"00426774"	"00000"	"Familial, autosomal dominant"	""	""	"<16y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317927"	"04214"	"00426775"	"00000"	"Familial, autosomal dominant"	""	""	"<16y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317928"	"04214"	"00426776"	"00000"	"Familial, autosomal dominant"	""	""	"<16y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317929"	"04214"	"00426777"	"00000"	"Familial, autosomal dominant"	""	""	"<16y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317930"	"04214"	"00426778"	"00000"	"Familial, autosomal dominant"	"72y"	"VA(R/L):0.05/0.05"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317931"	"04214"	"00426779"	"00000"	"Familial, autosomal dominant"	"51y"	"VA(R/L):0.7/0.6"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317932"	"04214"	"00426780"	"00000"	"Familial, autosomal dominant"	"45y"	"VA(R/L):0.7/0.4"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317933"	"04214"	"00426781"	"00000"	"Familial, autosomal dominant"	"44y"	"VA(R/L):0.5/0.5"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317934"	"04214"	"00426782"	"00000"	"Familial, autosomal dominant"	"30y"	"VA(R/L):0.9/0.9"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317935"	"04214"	"00426783"	"00000"	"Familial, autosomal dominant"	"75y"	"VA(R/L):0.8/0.3; slightly mottled fundus appearance and numerous hyperfl uorescent dots on the fl uorescein angiogram slightly reduced amplitudes of a and b waves in the electroretinograms"	""	""	"Asymptomatic"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317936"	"04214"	"00426784"	"00000"	"Familial, autosomal dominant"	"58y"	"VA(R/L):1.0/1.0; slightly reduced amplitudes of a and b waves in the electroretinograms"	""	""	"Asymptomatic"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317937"	"04214"	"00426785"	"00000"	"Familial, autosomal dominant"	""	"VA:(RE)6/60-(LE)hm; red-green color blind, cystoid macular edema, telangiectasis, and vitritis."	"15y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317938"	"04214"	"00426786"	"00000"	"Familial, autosomal dominant"	""	"VA:(RE)6/12-(LE)6/18"	"20y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317939"	"04214"	"00426787"	"00000"	"Familial, autosomal dominant"	"77y"	"normal retinal appearance"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317940"	"04214"	"00426788"	"00000"	"Familial, autosomal dominant"	""	"severely affected"	"15y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317941"	"04214"	"00426789"	"00000"	"Familial, autosomal dominant"	"58y"	"VA:(RE)6/6-(LE)6/6; moderately affected"	"30y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317942"	"04214"	"00426790"	"00000"	"Familial, autosomal dominant"	"56y"	"VA:(RE)6/18-(LE)6/12; very mild generalized retinal dysfunction and normal central vision"	"50y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317943"	"04214"	"00426791"	"00000"	"Familial, autosomal dominant"	"18y"	"VA:(RE)6/9-(LE)6/9; severe generalized retinal dysfunction with bilateral cystoid macular edema, causing reduced central vision"	"11y"	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317944"	"04214"	"00426792"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic; vision of 6/6 in both eyes with no night blindness and a fundus with subtle motling"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317945"	"04214"	"00426793"	"00000"	"Familial, autosomal dominant"	"44y"	"advance signs of photoreceptor loss and her visual field was within 10°."	"10y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317946"	"04214"	"00426794"	"00000"	"Familial, autosomal dominant"	""	"VA:(RE)6/60-(LE)6/18; cataract early in life that was removed at the age of 30y"	"20y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317947"	"04214"	"00426795"	"00000"	"Familial, autosomal dominant"	"52y"	"mild phenotype; peripheral vision: within 15°, central vision: 6/9(RE) and 6/12(LE); macular edema in both eyes, and the peripheral retina showed mild to moderate intraretinal pigment deposits"	"20y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317948"	"04214"	"00426796"	"00000"	"Familial, autosomal dominant"	"29y"	"severe phenotype; VA:6/9RE and 6/12LE; macular edema; bone spicules in the midperiphery; visual field was within 10°"	"13y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317949"	"04214"	"00426798"	"00000"	"Familial, autosomal dominant"	"33y"	"VA:6/18 - 6/36;  myopic refraction with a spherical equivalence of 22 dioptres in each eye; nyctalopia; decrease central vision at 30y; early posterior subscapsular cataract, bone spicule formation in all four quadrants, attenuated arterioles and pale optic discs in each eye"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317950"	"04214"	"00426799"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317953"	"04214"	"00426803"	"00000"	"Familial, autosomal dominant"	""	"central cystoid, paracentral schisis-like changes, and abnormally laminated retina at greater eccentricities"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (RP11)"	""
"0000317954"	"04214"	"00426804"	"00000"	"Familial, autosomal dominant"	"83y"	"VA:OD:0.7/OS:0.6"	"50y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317955"	"04214"	"00426805"	"00000"	"Familial, autosomal dominant"	"52y"	"VA:OD:0.7/OS:0.7"	"<10y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317956"	"04214"	"00426806"	"00000"	"Familial, autosomal dominant"	"48y"	"VA:OD:0.6/OS:0.6"	"<10y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317957"	"04214"	"00426807"	"00000"	"Familial, autosomal dominant"	"45y"	"VA:OD:0.6/OS:0.6"	"<10y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317958"	"04214"	"00426808"	"00000"	"Familial, autosomal dominant"	"22y"	"VA:OD:0.6/OS:0.1"	"8y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317959"	"04214"	"00426809"	"00000"	"Familial, autosomal dominant"	"16y"	"VA:OD:0.8/OS:0.7"	"<10y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317960"	"04214"	"00426812"	"00000"	"Familial, autosomal dominant"	"44y"	"VA:OD:0.7/OS:0.7"	"<10y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317961"	"04214"	"00426813"	"00000"	"Familial, autosomal dominant"	"26y"	"VA:OD:0.7/OS:0.6"	"14y"	""	""	""	""	""	""	""	""	"non-syndromic autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317962"	"04214"	"00426814"	"00000"	"Familial, autosomal dominant"	"46y"	"VA: OD(20/25) - OS(20/25)"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317963"	"04214"	"00426815"	"00000"	"Familial, autosomal dominant"	"25y"	"VA: OD(20/30) - OS(20/30); bone spicule pigmentation"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317964"	"04214"	"00426816"	"00000"	"Familial, autosomal dominant"	"34y"	"VA: OD(20/80) - OS(20/80); posterior subcapsular cataract; bone spicule pigmentation"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317965"	"04214"	"00426817"	"00000"	"Familial, autosomal dominant"	"23y"	"VA: OD(20/30) - OS(20/30); bone spicule pigmentation"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317966"	"04214"	"00426818"	"00000"	"Familial, autosomal dominant"	"33y"	"VA: OD(20/30) - OS(20/30); posterior subcapsular cataract; bone spicule pigmentation"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317967"	"04214"	"00426819"	"00000"	"Familial, autosomal dominant"	"40y"	"VA: OD(20/40) - OS(20/30); posterior subcapsular cataract; bone spicule pigmentation"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317968"	"04214"	"00426820"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317969"	"04214"	"00426821"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317970"	"04214"	"00426822"	"00000"	"Familial, autosomal dominant"	"27y"	"BCVA(OD/OS): 20/20-20/20; Normal disc color, multiple bone spicules in the mid- periphery retina;  Preserved foveal lamination, disappearance of IS/OS layer in periphery; visual field: 10° both horizontally and vertically; Full field ERG (photopic and scotopic) non-recordable"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317971"	"04214"	"00426823"	"00000"	"Familial, autosomal dominant"	"24y"	"BCVA(OD/OS): 20/20-20/20; RPE atrophy in the temporal area of optic disc;  Preserved foveal lamination, disappearance of IS/OS layer in periphery; visual field: 10° both horizontally and vertically; Full field ERG (photopic and scotopic): only residual cone responses"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317972"	"04214"	"00426824"	"00000"	"Familial, autosomal dominant"	"27y"	"BCVA(OD/OS): 20/40-20/50; Multiple bone spicules in the mid- periphery retina;  Preserved foveal lamination, disappearance of IS/OS layer in periphery; visual field: tunnel vision, <5° both hori- zontally and vertically; Full field ERG (photopic and scotopic): non-recordable in scotopic ERG and the cone responses were markedly reduced"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317973"	"04214"	"00426825"	"00000"	"Familial, autosomal dominant"	"27y"	"BCVA(OD/OS): 20/20-20/25; Multiple bone spicules in the mid- periphery retina;  Preserved foveal lamination, disappearance of IS/OS layer in periphery; visual field: tunnel vision, <5° both hori- zontally and vertically, more severe in the left eye; Full field ERG (photopic and scotopic): Non-recordable"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317974"	"04214"	"00426826"	"00000"	"Familial, autosomal dominant"	"55y"	"VA(OD/OS):1.0/1.0; Refraction(OD/OS):Emetropic/emetropic"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317975"	"04214"	"00426827"	"00000"	"Familial, autosomal dominant"	"47y"	"VA(OD/OS):0.4/0.3 cataracts; Refraction(OD/OS):6.5/6.5"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317976"	"04214"	"00426828"	"00000"	"Familial, autosomal dominant"	"52y"	"VA(OD/OS):1.0/1.0; Refraction(OD/OS):+1.50/+1.50"	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317977"	"04214"	"00426829"	"00000"	"Familial, autosomal dominant"	"26y"	"Moderate progression; VA(OD/OS):0.6/0.6; Refraction(OD/OS):105+3.75+0.25/80+3.50+0.75; Highly altered visual field in both eyes; retinal pigmented epithelium atrophy,vascular attenuation; altered ERG inb both eyes; severe night blindness, decreased visual acuity and loss of mid-peripheral visual field"	"23y"	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317978"	"04214"	"00426830"	"00000"	"Familial, autosomal dominant"	"19y"	"Mild progression (early symptoms); VA(OD/OS):0.5/0.6; Refraction(OD/OS):110+3.50+2.75/80+3.00+3.50; Light altered visual field in both eyes; retinal pigmented epithelium peripheric atrophy; altered ERG inb both eyes"	"19y"	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317979"	"04214"	"00426831"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa with reduced penetrance (adRP)"	""
"0000317980"	"04214"	"00426832"	"00000"	"Familial, autosomal dominant"	"23y"	"BCVA OD/OS: 20/25 20/20; Refraction: -6.25(-1.75)20° -5.50(-1.25)175°; Normal disc color, narrowed retinal vessels, little RPE changes in the periphery,; Preserved foveal lamination; Loss of AF outside the vascular arcades, perifoveal ring of increased AF"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317981"	"04214"	"00426833"	"00000"	"Familial, autosomal dominant"	"23y"	"BCVA OD/OS: 20/32 20/32; Refraction: +0.75(-2.75)15° Plano(-1.75)175°; Bilateral ERM Normal disc color; no narrowing of blood vessels; little changes in the periphery with few bone spicules; Bilateral ERM Bilateral CME; Perifoveal ring of increased AF; foveal changes due to CME"	""	""	"Night blindness late teens"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317982"	"04214"	"00426834"	"00000"	"Familial, autosomal dominant"	"42y"	"BCVA OD/OS: 20/32 20/32; Refraction: -3.25(-0.75)65° -3.25(-0.75)130°; Disc pallor narrowed, blood vessels, RPE changes in periphery, bilateral atrophic lesion off the fovea; Preserved foveal lamination; Loss of AF outside the vascular arcades, round eccentric parafoveal area of loss of AF, no ring of AF"	""	""	"Night blindness and visual field constriction"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317983"	"04214"	"00426835"	"00000"	"Familial, autosomal dominant"	"44y"	"BCVA OD/OS: 20/125 20/160; Refraction: +0.5(-1.25)40° +0.25(-1.50)155°; Pale optic disc, narrowed retinal vessels ; Preserved foveal lamination; Loss of AF outside the vascular arcades, patchy loss of AF within the posterior pole with no ring of AF"	""	""	"Night blindness since age 7"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317984"	"04214"	"00426836"	"00000"	"Familial, autosomal dominant"	"44y"	"BCVA OD/OS: 20/32 20/25; Refraction: -0.50(-3.75)15° -0.25(-3.75)175° ; Normal disc color, narrowed retinal vessels, RPE changes in the periphery ; Preserved foveal lamination ; Loss of AF outside the vascular arcades; small perifoveal ring of increased autofluorescence with some perifoveal areas of loss of AF"	""	""	"Visual field constriction, no real night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317985"	"04214"	"00426837"	"00000"	"Familial, autosomal dominant"	"31y"	"BCVA OD/OS: 20/500 20/200; Refraction: +1.50(-1.25)95° +1.50(-1.25)75°; No pale optic disc; narrowed retinal vessels, some RPE changes in the periphery; Foveal thinning; Loss of AF outside the vascular arcades, increased AF within the foveal region associated with some patchy loss of AF"	""	""	"Night blindness since birth"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317986"	"04214"	"00426838"	"00000"	"Familial, autosomal dominant"	"40y"	"VA:6/36(OD) - 6/36(OS); Bilateral attenuation of retinal vessels, pale optic discs, RPE degeneration, bone spicule pigments in peripheral part of the fundus in both eyes"	"6y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317987"	"04214"	"00426839"	"00000"	"Familial, autosomal dominant"	"35y"	"VA:6/36(OD) - 6/36(OS); Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic discs in both eyes"	"10y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317988"	"04214"	"00426841"	"00000"	"Familial, autosomal dominant"	"53y"	"VA:6/36(OD) - 6/36(OS); Bilateral attenuation of retinal vasculature, optic discs showing paleness, bone spicule pigmentation throughout the fundus, RPE degeneration in both eyes"	"10y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317989"	"04214"	"00426842"	"00000"	"Familial, autosomal dominant"	"52y"	"VA:CF(OD) - CF(OS); Attenuated retinal vessels, pale optic discs, bone spicule pigments throughout the fundus, RPE degeneration in both eyes"	"10y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317990"	"04214"	"00426843"	"00000"	"Familial, autosomal dominant"	"46y"	"VA:6/36(OD) - 6/36(OS); Attenuated retinal vessels, pale optic discs, bone spicule pigments in peripheral part of the fundus, RPE degeneration in both eyes"	"10y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317991"	"04214"	"00426844"	"00000"	"Familial, autosomal dominant"	"18y"	"VA:6/24(OD) - 6/36(OS); Attenuated retinal vessels, pale optic discs, bone spicule pigments in peripheral part of the fundus, RPE degeneration in both eyes"	"5y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317992"	"04214"	"00426845"	"00000"	"Familial, autosomal dominant"	"10y"	"VA:6/24(OD) - 6/18(OS); Attenuated retinal vessels, few pigments of bone spicules at the periphery of the fundus, RPE changes, pale optic discs in both eyes"	"5y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317993"	"04214"	"00426846"	"00000"	"Familial, autosomal dominant"	"17y"	"VA:6/60(OD) - 6/36(OS); Bilateral attenuation of retinal vessels, bone spicule pigmentations in peripheral part of the retina, tigroid fundus due to RPE degeneration, pale optic discs, macula spared"	"5y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317994"	"04214"	"00426847"	"00000"	"Familial, autosomal dominant"	"29y"	"VA:6/36(OD) - 6/24(OS); Bilateral attenuation of retinal vessels, pale optic discs, bone spicule pigments in peripheral part of the fundus, RPE degeneration in both eyes"	"5y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317995"	"04214"	"00426848"	"00000"	"Familial, autosomal dominant"	"19y"	"VA:6/24(OD) - 6/24(OS); Bilateral thinning of retinal vessels, bone spicules pigments in periphery of the retina, RPE degeneration, dull optic discs of both eyes"	"5y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317996"	"04214"	"00426849"	"00000"	"Familial, autosomal dominant"	"30y"	"VA:6/36(OD) - 6/36(OS); Bilateral attenuation of retinal vessels, bony spicules pigmentation in periphery of retina, RPE degeneration, optic disc pallor of both eyes"	"5y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317997"	"04214"	"00426850"	"00000"	"Familial, autosomal dominant"	"45y"	"BCVA(OD-OS):20/25-20/25, ON pallor, vascular attenuation, peripheral spicule formation, macular edema, posterior subcapsular cataract"	"<39y"	""	"Nyctalopia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317998"	"04214"	"00426851"	"00000"	"Familial, autosomal dominant"	"48y"	"BCVA(OD-OS):20/60-20/60, ON pallor, vascular attenuation, peripheral spicule formation, posterior subcapsular cataract"	"<39y"	""	"Nyctalopia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317999"	"04214"	"00426852"	"00000"	"Familial, autosomal dominant"	"51y"	"BCVA(OD-OS):20/40-20/70, ON pallor, vascular attenuation, peripheral spicule formation, macular edema, posterior subcapsular cataract"	"<39y"	""	"Nyctalopia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318000"	"04214"	"00426853"	"00000"	"Familial, autosomal dominant"	"27y"	"BCVA(OD/OS): 20/20 both; Normal disc color, multiple bone spicules in the mid- periphery retina"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318001"	"04214"	"00426854"	"00000"	"Familial, autosomal dominant"	"24y"	"BCVA(OD/OS): 20/20 both; RPE atrophy in the temporal area of optic disc"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318002"	"04214"	"00426856"	"00000"	"Familial, autosomal dominant"	"27y"	"BCVA(OD/OS): 20/40-20/50; Multiple bone spicules in the mid- periphery retina"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318003"	"04214"	"00426857"	"00000"	"Familial, autosomal dominant"	"27y"	"BCVA(OD/OS): 20/25 both; Posterior subcapsular cataracts (OU); Multiple bone spicules in the mid- periphery retina"	""	""	"Night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318004"	"04214"	"00426859"	"00000"	"Familial, autosomal dominant"	"82y"	"VA:LP(R)/LP(L); Cataract, can’t see the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318005"	"04214"	"00426860"	"00000"	"Familial, autosomal dominant"	"80y"	"VA:LP(R)/LP(L); Cataract, can’t see the fundus"	"8y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318006"	"04214"	"00426861"	"00000"	"Familial, autosomal dominant"	"58y"	"VA:LP(R)/LP(L); Cataract, can’t see the fundus"	"3y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318007"	"04214"	"00426862"	"00000"	"Familial, autosomal dominant"	"54y"	"VA:0.1(R)/0.1(L); Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc"	"3y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318008"	"04214"	"00426863"	"00000"	"Familial, autosomal dominant"	"29y"	"VA:1(R)/1(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318009"	"04214"	"00426864"	"00000"	"Familial, autosomal dominant"	"27y"	"VA:1(R)/1(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318010"	"04214"	"00426865"	"00000"	"Familial, autosomal dominant"	"38y"	"VA:0.3(R)/0.5(L); Bilateral attenuation of retinal vessels, bone spicule pigments in peripheral part of the fundus, RPE degeneration"	"3y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318011"	"04214"	"00426866"	"00000"	"Familial, autosomal dominant"	"16y"	"VA:1.2(R)/1.2(L); Bone spicule pigments in peripheral part of the fundus"	"2y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318012"	"04214"	"00426867"	"00000"	"Familial, autosomal dominant"	"3y"	"VA:1.2(R)/1.2(L); Bone spicule pigments in peripheral part of the fundus"	"2y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318013"	"04214"	"00426868"	"00000"	"Familial, autosomal dominant"	"63y"	"VA:0.4(R)/0.5(L); Bone spicule pigments in peripheral part of the fundus"	"12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318014"	"04214"	"00426869"	"00000"	"Familial, autosomal dominant"	"48y"	"VA:0.06(R)/0.06(L); Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318015"	"04214"	"00426870"	"00000"	"Familial, autosomal dominant"	"40y"	"VA:0.5(R)/0.6(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318016"	"04214"	"00426871"	"00000"	"Familial, autosomal dominant"	"38y"	"VA:0.7(R)/0.6(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318017"	"04214"	"00426872"	"00000"	"Familial, autosomal dominant"	"50y"	"VA:0.2(R)/0.1(L); Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318018"	"04214"	"00426873"	"00000"	"Familial, autosomal dominant"	"49y"	"VA:0.1(R)/0.06(L); Bilateral attenuation of retinal vessels, bone spicule pigments throughout the fundus, RPE degeneration, pale optic disc"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318019"	"04214"	"00426874"	"00000"	"Familial, autosomal dominant"	"32y"	"VA:0.7(R)/0.6(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318020"	"04214"	"00426875"	"00000"	"Familial, autosomal dominant"	"35y"	"VA:0.9(R)/0.7(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318021"	"04214"	"00426876"	"00000"	"Familial, autosomal dominant"	"40y"	"VA:0.5(R)/0.6(L); Bone spicule pigments in peripheral part of the fundus"	"<12y"	""	"night blindness and photophobia"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318022"	"04214"	"00426877"	"00000"	"Familial, autosomal dominant"	"58y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318023"	"04214"	"00426878"	"00000"	"Familial, autosomal dominant"	"47y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318024"	"04214"	"00426879"	"00000"	"Familial, autosomal dominant"	"23y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318025"	"04214"	"00426880"	"00000"	"Familial, autosomal dominant"	"64y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318026"	"04214"	"00426881"	"00000"	"Familial, autosomal dominant"	"56y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318027"	"04214"	"00426882"	"00000"	"Familial, autosomal dominant"	"49y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318028"	"04214"	"00426883"	"00000"	"Familial, autosomal dominant"	"55y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318029"	"04214"	"00426884"	"00000"	"Familial, autosomal dominant"	"22y"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000318076"	"04214"	"00426938"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000318077"	"04214"	"00426939"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000320385"	"00112"	"00429513"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320450"	"00112"	"00429578"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320471"	"00112"	"00429599"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320485"	"00112"	"00429613"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320513"	"00112"	"00429641"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320527"	"00112"	"00429655"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320530"	"00112"	"00429658"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320580"	"00112"	"00429708"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320605"	"00112"	"00429733"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320653"	"00112"	"00429781"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320675"	"00112"	"00429803"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320757"	"00112"	"00429885"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320774"	"00112"	"00429902"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320819"	"00112"	"00429947"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320912"	"00112"	"00430040"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325602"	"00112"	"00435411"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000331079"	"00112"	"00441664"	"04542"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000331080"	"00112"	"00441665"	"04542"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000334622"	"00112"	"00445387"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000336126"	"00198"	"00446927"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336130"	"00198"	"00446931"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336131"	"00198"	"00446932"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336138"	"00198"	"00446939"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336140"	"00198"	"00446941"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336141"	"00198"	"00446942"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336142"	"00198"	"00446943"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336143"	"00198"	"00446944"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336145"	"00198"	"00446946"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336154"	"00198"	"00446955"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336155"	"00198"	"00446956"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336158"	"00198"	"00446959"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336220"	"00198"	"00447021"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336458"	"00198"	"00447259"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336473"	"00198"	"00447274"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336485"	"00198"	"00447286"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336506"	"00198"	"00447307"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336517"	"00198"	"00447318"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336518"	"00198"	"00447319"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336653"	"00198"	"00447454"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, X-linked"	""
"0000336784"	"00198"	"00447585"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336787"	"00198"	"00447588"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336790"	"00198"	"00447591"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336792"	"00198"	"00447593"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000347443"	"00112"	"00459013"	"00006"	"Familial, autosomal dominant"	"28y"	"see paper; ..., retinitis pigmentosa; retinal pigment epithelium mottling with occasional bone spicules; ERG unrecordable rod-dependent responses, severely abnormal amplitudes, abnormal implicit times cone-dependent responses"	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000347444"	"00112"	"00459014"	"00006"	"Familial, autosomal dominant"	"12y"	"see paper; ..., 11y-decreased periphera vision, fundus spots of gliosis; 12y-retinitis pigmentosa"	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000347445"	"00112"	"00459015"	"00006"	"Unknown"	"23y"	"see paper; ..., retinitis pigmentosa"	""	""	""	""	""	""	""	""	"RP11"	"retinitis pigmentosa"	""
"0000348594"	"04214"	"00461094"	"00006"	"Familial, autosomal dominant"	""	""	"6y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000348596"	"04214"	"00461096"	"00006"	"Familial, autosomal dominant"	""	""	"22y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""


## Screenings ## Do not remove or alter this header ##
## Count = 830
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001587"	"00001784"	"1"	"00102"	"00102"	"2013-08-08 17:55:01"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000001602"	"00001799"	"1"	"00102"	"00102"	"2013-08-08 19:38:29"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000001606"	"00001803"	"1"	"00102"	"00102"	"2013-08-08 19:55:12"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033215"	"00033147"	"1"	"00229"	"00229"	"2012-02-04 15:42:15"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033236"	"00033168"	"1"	"00229"	"00229"	"2012-02-04 15:46:27"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000105521"	"00105048"	"1"	"01244"	"00006"	"2017-06-16 16:35:49"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000208737"	"00207696"	"1"	"01244"	"01244"	"2018-11-28 16:05:02"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000234608"	"00233509"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234609"	"00233510"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234610"	"00233511"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234611"	"00233512"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234612"	"00233513"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234613"	"00233514"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234614"	"00233515"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234615"	"00233516"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234616"	"00233517"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234617"	"00233518"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234618"	"00233519"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234619"	"00233520"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000271090"	"00269937"	"1"	"01848"	"01848"	"2019-12-10 14:43:12"	""	""	"SEQ-NG"	"DNA"	""	"Clinical Exome Sequencing"
"0000271095"	"00269942"	"1"	"01848"	"01848"	"2019-12-10 15:25:34"	""	""	"SEQ-NG"	"DNA"	""	"clinical exome sequencing"
"0000293363"	"00292195"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000301723"	"00300602"	"1"	"01848"	"00006"	"2020-05-03 17:19:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000301724"	"00300603"	"1"	"01848"	"00006"	"2020-05-03 17:19:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000308837"	"00307697"	"1"	"01164"	"01164"	"2020-08-18 13:02:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000310453"	"00309308"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310454"	"00309309"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310455"	"00309310"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310456"	"00309311"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310812"	"00309667"	"1"	"01807"	"01807"	"2020-08-31 11:20:01"	""	""	"SEQ"	"DNA"	""	""
"0000321215"	"00320031"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321216"	"00320032"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321217"	"00320033"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321218"	"00320034"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321219"	"00320035"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321220"	"00320036"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321221"	"00320037"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321222"	"00320038"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321223"	"00320039"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321224"	"00320040"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000321361"	"00320176"	"1"	"01807"	"01807"	"2020-11-23 17:49:01"	""	""	"SEQ"	"DNA"	""	""
"0000326694"	"00325483"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326703"	"00325492"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326735"	"00325524"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329176"	"00327961"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329306"	"00328091"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES and WGS"
"0000329340"	"00328125"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES and WGS"
"0000329363"	"00328148"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000332505"	"00331285"	"1"	"00000"	"00006"	"2021-02-11 10:36:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000333426"	"00332206"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333760"	"00332536"	"1"	"00000"	"00006"	"2021-02-20 09:48:27"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000334581"	"00333356"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334607"	"00333382"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334733"	"00333507"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334734"	"00333508"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334735"	"00333509"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334736"	"00333510"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334737"	"00333511"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334754"	"00333528"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334791"	"00333565"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334792"	"00333566"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334793"	"00333567"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334794"	"00333568"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334795"	"00333569"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334815"	"00333589"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334816"	"00333590"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334817"	"00333591"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334818"	"00333592"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335653"	"00334424"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335654"	"00334425"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335655"	"00334426"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335804"	"00334575"	"1"	"00000"	"00006"	"2021-03-01 15:50:09"	""	""	"SEQ-NG"	"DNA"	""	"105-gene panel"
"0000336374"	"00335145"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336375"	"00335146"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336537"	"00335308"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336543"	"00335314"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336544"	"00335315"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336625"	"00335396"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000336635"	"00335406"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000336670"	"00335441"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000336800"	"00335572"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336801"	"00335573"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336802"	"00335574"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336803"	"00335575"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336804"	"00335576"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000336805"	"00335577"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336806"	"00335578"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336807"	"00335579"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ"	"DNA"	""	""
"0000336808"	"00335580"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336881"	"00335653"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336882"	"00335654"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336883"	"00335655"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336884"	"00335656"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336885"	"00335657"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336886"	"00335658"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336887"	"00335659"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336888"	"00335660"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336889"	"00335661"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336890"	"00335662"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336891"	"00335663"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000337180"	"00335950"	"1"	"00000"	"00006"	"2021-03-09 16:40:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000359962"	"00358732"	"1"	"00000"	"00006"	"2021-03-11 13:59:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360010"	"00358780"	"1"	"00000"	"00006"	"2021-03-12 09:26:03"	""	""	"SEQ-NG"	"DNA"	""	"226-gene panel"
"0000360011"	"00358781"	"1"	"00000"	"00006"	"2021-03-12 09:26:03"	""	""	"SEQ-NG"	"DNA"	""	"226-gene panel"
"0000360012"	"00358782"	"1"	"00000"	"00006"	"2021-03-12 09:26:03"	""	""	"SEQ-NG"	"DNA"	""	"226-gene panel"
"0000360013"	"00358783"	"1"	"00000"	"00006"	"2021-03-12 09:26:03"	""	""	"SEQ-NG"	"DNA"	""	"226-gene panel"
"0000360014"	"00358784"	"1"	"00000"	"00006"	"2021-03-12 09:26:03"	""	""	"SEQ-NG"	"DNA"	""	"226-gene panel"
"0000360168"	"00358935"	"1"	"00000"	"00006"	"2021-03-17 15:00:07"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360237"	"00359000"	"1"	"00006"	"00006"	"2021-03-18 13:30:28"	""	""	"arraySEQ;SEQ"	"DNA"	""	""
"0000360271"	"00359033"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360350"	"00359112"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360362"	"00359124"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360374"	"00359136"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360376"	"00359138"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360399"	"00359161"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360425"	"00359187"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360449"	"00359211"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363489"	"00362260"	"1"	"02404"	"02404"	"2021-04-18 11:15:35"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000364116"	"00362888"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364632"	"00363404"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000364648"	"00363420"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000364735"	"00363507"	"1"	"00000"	"00006"	"2021-04-29 10:58:03"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"gene panel"
"0000364736"	"00363508"	"1"	"00000"	"00006"	"2021-04-29 10:58:03"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373291"	"00372063"	"1"	"00000"	"00006"	"2021-05-06 16:52:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373308"	"00372080"	"1"	"00000"	"00006"	"2021-05-06 19:05:11"	""	""	"SEQ-NG"	"DNA"	""	"53-gene panel"
"0000373314"	"00372086"	"1"	"00000"	"00006"	"2021-05-06 19:05:11"	""	""	"SEQ-NG"	"DNA"	""	"53-gene panel"
"0000373315"	"00372087"	"1"	"00000"	"00006"	"2021-05-06 19:05:11"	""	""	"SEQ-NG"	"DNA"	""	"53-gene panel"
"0000373880"	"00372648"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374588"	"00373353"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000374596"	"00373361"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000374701"	"00373466"	"1"	"00000"	"00006"	"2021-05-14 16:56:19"	""	""	"SEQ-NG"	"DNA"	""	"73-gene panel"
"0000374703"	"00373468"	"1"	"00000"	"00006"	"2021-05-14 16:56:19"	""	""	"SEQ-NG"	"DNA"	""	"73-gene panel"
"0000375071"	"00373839"	"1"	"00000"	"00006"	"2021-05-21 13:56:05"	""	""	"SEQ-NG"	"DNA"	""	"86-gene panel"
"0000376108"	"00374914"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376114"	"00374920"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376116"	"00374922"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376499"	"00375302"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376500"	"00375303"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376535"	"00375338"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376644"	"00375447"	"1"	"00000"	"00006"	"2021-06-04 11:16:10"	""	""	"SEQ-NG"	"DNA"	""	"162-gene panel"
"0000376645"	"00375448"	"1"	"00000"	"00006"	"2021-06-04 11:36:57"	""	""	"SEQ-NG"	"DNA"	""	"179-gene panel"
"0000377385"	"00376189"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"DHPLC"	"DNA"	"blood"	""
"0000377687"	"00376482"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377688"	"00376483"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377689"	"00376484"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377690"	"00376485"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377691"	"00376486"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377692"	"00376487"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377693"	"00376488"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377694"	"00376489"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377695"	"00376490"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377696"	"00376491"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377697"	"00376492"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377698"	"00376493"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377699"	"00376494"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377700"	"00376495"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377701"	"00376496"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377702"	"00376497"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377703"	"00376498"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377704"	"00376499"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000377705"	"00376500"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCR;SSCA"	"DNA"	"blood"	""
"0000378019"	"00376814"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378027"	"00376822"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378029"	"00376824"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378241"	"00377036"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378242"	"00377037"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378371"	"00377166"	"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"
"0000378372"	"00377167"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378599"	"00377396"	"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"
"0000378600"	"00377397"	"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"
"0000378601"	"00377398"	"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"
"0000378602"	"00377399"	"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"
"0000378603"	"00377400"	"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"
"0000378604"	"00377401"	"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"
"0000378605"	"00377402"	"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"
"0000378606"	"00377403"	"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"
"0000378607"	"00377404"	"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"
"0000378608"	"00377405"	"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"
"0000378609"	"00377406"	"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"
"0000378610"	"00377407"	"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"
"0000378611"	"00377408"	"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"
"0000378612"	"00377409"	"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"
"0000378613"	"00377410"	"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"
"0000378614"	"00377411"	"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"
"0000378708"	"00377505"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"SEQ-NG"	"DNA"	""	"+arrayCGH"
"0000378709"	"00377506"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"MLPA"	"DNA"	""	"+arrayCGH"
"0000378710"	"00377507"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"MLPA"	"DNA"	""	"+arrayCGH"
"0000378711"	"00377508"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"MLPA"	"DNA"	""	"+arrayCGH"
"0000378712"	"00377509"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"MLPA"	"DNA"	""	"+SEQ-NG"
"0000378929"	"00377725"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"Lymphoblast"	""
"0000378932"	"00377728"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"Lymphoblast"	""
"0000379144"	"00377940"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000380543"	"00379343"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000380731"	"00379531"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000380815"	"00379616"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"arraySNP"	"DNA"	"blood"	"adRP genotyping microarray"
"0000380816"	"00379617"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"arraySNP"	"DNA"	"blood"	"adRP genotyping microarray"
"0000381062"	"00379860"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381063"	"00379861"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381064"	"00379862"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381392"	"00380190"	"1"	"00000"	"03840"	"2021-08-11 10:47:34"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381405"	"00380203"	"1"	"00000"	"03840"	"2021-08-11 10:47:34"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381406"	"00380204"	"1"	"00000"	"03840"	"2021-08-11 10:47:34"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381435"	"00380093"	"1"	"03508"	"03508"	"2021-08-13 05:42:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000382059"	"00380845"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382060"	"00380846"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382061"	"00380847"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382062"	"00380848"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382063"	"00380849"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382064"	"00380850"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382223"	"00381009"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ-NG;SEQp"	"DNA"	"blood"	"targeted exon capture/IROme assay"
"0000382313"	"00381099"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"RT-PCR"	"DNA"	"blood"	""
"0000382449"	"00381234"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382821"	"00381605"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382822"	"00381606"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382835"	"00381619"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382876"	"00381660"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382879"	"00381663"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382897"	"00381681"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382914"	"00381698"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000382924"	"00381708"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000382927"	"00381711"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000382983"	"00381767"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382984"	"00381768"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382985"	"00381769"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382986"	"00381770"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382987"	"00381771"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382988"	"00381772"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382989"	"00381773"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000382990"	"00381774"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ;PCR"	"DNA"	"blood"	""
"0000383112"	"00381896"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383113"	"00381897"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383114"	"00381898"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383115"	"00381899"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383116"	"00381900"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000383117"	"00381901"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000383118"	"00381902"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000383119"	"00381903"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000383565"	"00382351"	"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"
"0000383566"	"00382352"	"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"
"0000383567"	"00382353"	"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"
"0000383568"	"00382354"	"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"
"0000383569"	"00382355"	"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"
"0000383570"	"00382356"	"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"
"0000383571"	"00382357"	"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"
"0000383572"	"00382358"	"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"
"0000383573"	"00382359"	"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"
"0000383574"	"00382360"	"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"
"0000383579"	"00382365"	"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"
"0000383587"	"00382373"	"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"
"0000383793"	"00382579"	"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"
"0000383794"	"00382580"	"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"
"0000383795"	"00382581"	"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"
"0000384284"	"00383060"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384285"	"00383061"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384288"	"00383064"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384289"	"00383065"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384299"	"00383075"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384309"	"00383085"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384313"	"00383089"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384315"	"00383091"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384320"	"00383096"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385045"	"00383820"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"arrayCGH"	"DNA"	""	"retrospective analysis"
"0000385046"	"00383821"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385047"	"00383822"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385668"	"00384443"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385860"	"00384632"	"1"	"00000"	"03840"	"2021-10-04 12:47:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000386344"	"00385115"	"1"	"00000"	"03840"	"2021-10-07 11:53:38"	""	""	"?"	"DNA"	""	"cell line experiment"
"0000386345"	"00385116"	"1"	"00000"	"03840"	"2021-10-07 11:53:38"	""	""	"?"	"DNA"	""	"cell line experiment"
"0000386346"	"00385117"	"1"	"00000"	"03840"	"2021-10-07 11:53:38"	""	""	"?"	"DNA"	""	"cell line experiment"
"0000386955"	"00385727"	"1"	"00000"	"03840"	"2021-10-14 15:38:02"	""	""	"SEQ-NG"	"DNA"	"blood"	"Panel 2 containing 316 genes"
"0000387075"	"00385847"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing; GeneDx Retinal dystrophy Xpanded gene panel (880 genes)"
"0000387401"	"00386172"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387443"	"00386214"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387444"	"00386215"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387445"	"00386216"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387450"	"00386221"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387487"	"00386258"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387773"	"00386545"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387787"	"00386559"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387789"	"00386561"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387794"	"00386566"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387809"	"00386581"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387820"	"00386592"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387832"	"00386604"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387844"	"00386616"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387876"	"00386648"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387882"	"00386654"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387913"	"00386685"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387923"	"00386695"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387924"	"00386696"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387926"	"00386698"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387930"	"00386702"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000387963"	"00386735"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387974"	"00386746"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387983"	"00386755"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387996"	"00386768"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388000"	"00386772"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388013"	"00386785"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388056"	"00386828"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388078"	"00386850"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388082"	"00386854"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388207"	"00386981"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388208"	"00386982"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388209"	"00386983"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388210"	"00386984"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388211"	"00386985"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388212"	"00386986"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388213"	"00386987"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388214"	"00386988"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388215"	"00386989"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388216"	"00386990"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388608"	"00387382"	"1"	"00000"	"03840"	"2021-10-29 09:42:54"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000389747"	"00388506"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000389971"	"00388728"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000389972"	"00388729"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389973"	"00388730"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390015"	"00388772"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390016"	"00388773"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390017"	"00388774"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390018"	"00388775"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390019"	"00388776"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390020"	"00388777"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390021"	"00388778"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390202"	"00388959"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390203"	"00388960"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390435"	"00389192"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390436"	"00389193"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390439"	"00389196"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000390440"	"00389197"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390487"	"00389244"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390675"	"00389432"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390676"	"00389433"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000390690"	"00389447"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390691"	"00389448"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390692"	"00389449"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390779"	"00389536"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390791"	"00389548"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390792"	"00389549"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390793"	"00389550"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390794"	"00389551"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390795"	"00389552"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390814"	"00389571"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390815"	"00389572"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390817"	"00389574"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390831"	"00389588"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390832"	"00389589"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390839"	"00389596"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390877"	"00389634"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390884"	"00389641"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390887"	"00389644"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390891"	"00389648"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390894"	"00389651"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390898"	"00389655"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390899"	"00389656"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390903"	"00389660"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390907"	"00389664"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390908"	"00389665"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390943"	"00389700"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390946"	"00389703"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390947"	"00389704"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"MLPA"	"DNA"	"blood"	"MLPA"
"0000390948"	"00389705"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391039"	"00389796"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391068"	"00389825"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391097"	"00389854"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000391104"	"00389861"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391114"	"00389871"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391121"	"00389878"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391184"	"00389941"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391191"	"00389948"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391226"	"00389983"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391233"	"00389990"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391249"	"00390006"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391250"	"00390007"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391252"	"00390009"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391591"	"00390350"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391592"	"00390351"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391593"	"00390352"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391721"	"00390480"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391722"	"00390481"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000393555"	"00392313"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"microsat;PCRq"	"DNA"	"blood"	"linkage analysis and qPCR"
"0000393557"	"00392315"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"microsat;PCRq"	"DNA"	"blood"	"linkage analysis and qPCR"
"0000393561"	"00392319"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393562"	"00392320"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393565"	"00392323"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393566"	"00392324"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393573"	"00392331"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393581"	"00392339"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393582"	"00392340"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;PCRq"	"DNA"	"blood"	"gene panel testing and qualitative PCR"
"0000393584"	"00392342"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;PCRq"	"DNA"	"blood"	"gene panel testing and qualitative PCR"
"0000393586"	"00392344"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;PCRq"	"DNA"	"blood"	"gene panel testing and qualitative PCR"
"0000393587"	"00392345"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393593"	"00392351"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393596"	"00392354"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393598"	"00392356"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393601"	"00392359"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393614"	"00392372"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	"gene panel testing and mutiplex ligation probe amplification"
"0000393619"	"00392377"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393620"	"00392378"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	"gene panel testing and mutiplex ligation probe amplification"
"0000393626"	"00392384"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	"gene panel testing and mutiplex ligation probe amplification"
"0000394762"	"00393514"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394824"	"00393576"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394848"	"00393600"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394907"	"00393659"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;MLPA"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394916"	"00393668"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;MLPA"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394929"	"00393681"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;MLPA"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394941"	"00393693"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;MLPA"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394996"	"00393748"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;MLPA"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395005"	"00393757"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395041"	"00393793"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395072"	"00393824"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;MLPA"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395157"	"00393909"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395574"	"00394327"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395575"	"00394328"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395732"	"00394485"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395733"	"00394486"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395734"	"00394487"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395735"	"00394488"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395736"	"00394489"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397091"	"00395852"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397101"	"00395862"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397116"	"00395877"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397130"	"00395891"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397155"	"00395916"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397170"	"00395931"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397189"	"00395950"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397669"	"00396428"	"1"	"00006"	"00006"	"2021-12-15 14:29:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000397727"	"00396484"	"1"	"00000"	"03840"	"2021-12-16 12:35:05"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"panel of 254 genes implicated in retinopathies"
"0000397765"	"00396522"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000397878"	"00396635"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000421741"	"00420432"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421742"	"00420433"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421757"	"00420448"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421797"	"00420488"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421815"	"00420506"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421862"	"00420553"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421871"	"00420562"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000422110"	"00420799"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422111"	"00420800"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422112"	"00420801"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422113"	"00420802"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422114"	"00420803"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422115"	"00420804"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422116"	"00420805"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422117"	"00420806"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422118"	"00420807"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422119"	"00420808"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422120"	"00420809"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422121"	"00420810"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422122"	"00420811"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422123"	"00420812"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422124"	"00420813"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422125"	"00420814"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422126"	"00420815"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422127"	"00420816"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422128"	"00420817"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422129"	"00420818"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422130"	"00420819"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422131"	"00420820"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422132"	"00420821"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422133"	"00420822"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422134"	"00420823"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422135"	"00420824"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422136"	"00420825"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422137"	"00420826"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422138"	"00420827"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000426294"	"00424974"	"1"	"00000"	"03840"	"2022-11-24 13:27:17"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426295"	"00424975"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426296"	"00424976"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426297"	"00424977"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426298"	"00424978"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426299"	"00424979"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426300"	"00424980"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426301"	"00424981"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426302"	"00424982"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426303"	"00424983"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426304"	"00424984"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426305"	"00424985"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426306"	"00424986"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426307"	"00424987"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426308"	"00424988"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426309"	"00424989"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426310"	"00424990"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426311"	"00424991"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426312"	"00424992"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426313"	"00424993"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426314"	"00424994"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426315"	"00424995"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426316"	"00424996"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426317"	"00424997"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426318"	"00424998"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426319"	"00424999"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426320"	"00425000"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426321"	"00425001"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426322"	"00425002"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426323"	"00425003"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426324"	"00425004"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426325"	"00425005"	"1"	"00000"	"03840"	"2022-11-24 14:43:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"retinal dystrophy panel of 176 genes"
"0000426326"	"00425006"	"1"	"00000"	"03840"	"2022-11-24 17:10:24"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427081"	"00425761"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427082"	"00425762"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427083"	"00425763"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427084"	"00425764"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427085"	"00425765"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427086"	"00425766"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427087"	"00425767"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427088"	"00425768"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427089"	"00425769"	"1"	"00000"	"03840"	"2022-11-25 15:14:57"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427099"	"00425780"	"1"	"00000"	"03840"	"2022-11-25 15:34:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000427100"	"00425781"	"1"	"00000"	"03840"	"2022-11-25 15:34:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000427101"	"00425782"	"1"	"00000"	"03840"	"2022-11-25 15:34:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000427103"	"00425783"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427104"	"00425784"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427105"	"00425785"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427106"	"00425786"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427107"	"00425787"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427108"	"00425788"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427109"	"00425789"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427110"	"00425790"	"1"	"00000"	"03840"	"2022-11-25 15:58:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000427190"	"00425870"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427191"	"00425871"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427192"	"00425872"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427193"	"00425873"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427194"	"00425874"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427195"	"00425875"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427196"	"00425876"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427197"	"00425877"	"1"	"00000"	"03840"	"2022-11-25 21:10:52"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted resequencing"
"0000427198"	"00425878"	"1"	"00000"	"03840"	"2022-11-26 09:36:25"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000427199"	"00425879"	"1"	"00000"	"03840"	"2022-11-26 09:36:25"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000427200"	"00425880"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427201"	"00425881"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427202"	"00425882"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427203"	"00425883"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427204"	"00425884"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427205"	"00425885"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427206"	"00425886"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427207"	"00425887"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427208"	"00425888"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427209"	"00425889"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427210"	"00425890"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427211"	"00425891"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427212"	"00425892"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427213"	"00425893"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427214"	"00425894"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427215"	"00425895"	"1"	"00000"	"03840"	"2022-11-26 12:24:53"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000427362"	"00426042"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427363"	"00426043"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427364"	"00426044"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427365"	"00426045"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427366"	"00426046"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427367"	"00426047"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427368"	"00426048"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427665"	"00426345"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427666"	"00426346"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"adRP chip"
"0000427667"	"00426347"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"adRP chip"
"0000427668"	"00426348"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427669"	"00426349"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"NGS panel"
"0000427670"	"00426350"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427671"	"00426351"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427672"	"00426352"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	"SSCA;DGGE"
"0000427673"	"00426353"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427674"	"00426354"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427675"	"00426355"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427676"	"00426356"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427677"	"00426357"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427678"	"00426358"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427679"	"00426359"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427680"	"00426360"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427681"	"00426361"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	"SSCA;DGGE"
"0000427682"	"00426362"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SSCA;DGGE;SEQ"	"DNA"	"blood"	""
"0000427683"	"00426363"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000427684"	"00426364"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427685"	"00426365"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427686"	"00426366"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	"MLPA"
"0000427687"	"00426367"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	""
"0000427688"	"00426368"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	""
"0000427689"	"00426369"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"NGS panel"
"0000427690"	"00426370"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"NGS panel"
"0000427691"	"00426371"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427692"	"00426372"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427693"	"00426373"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427694"	"00426374"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427695"	"00426375"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"adRP chip"
"0000427696"	"00426376"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"adRP chip"
"0000427697"	"00426377"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427698"	"00426378"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"NGS panel"
"0000427699"	"00426379"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427700"	"00426380"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"adRP chip"
"0000427701"	"00426381"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;MLPA"	"DNA"	"blood"	"MLPA"
"0000427702"	"00426382"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"NGS panel"
"0000427703"	"00426383"	"1"	"00000"	"03840"	"2022-11-29 14:39:27"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"NGS panel"
"0000427714"	"00426394"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427715"	"00426395"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427716"	"00426396"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427717"	"00426397"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427718"	"00426398"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427719"	"00426399"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427720"	"00426400"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427721"	"00426401"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427722"	"00426402"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427723"	"00426403"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427724"	"00426404"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427725"	"00426405"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427726"	"00426406"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427727"	"00426407"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427728"	"00426408"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427729"	"00426409"	"1"	"00000"	"03840"	"2022-11-29 20:49:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000427745"	"00426425"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427746"	"00426426"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427747"	"00426427"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427748"	"00426428"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427749"	"00426429"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427750"	"00426430"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427751"	"00426431"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427752"	"00426432"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427753"	"00426433"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427754"	"00426434"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427755"	"00426435"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427756"	"00426436"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427757"	"00426437"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427758"	"00426438"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427759"	"00426439"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427760"	"00426440"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427761"	"00426441"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427762"	"00426442"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427763"	"00426443"	"1"	"00000"	"03840"	"2022-11-30 12:28:57"	""	""	"arraySNP;PE;SEQ"	"DNA"	"blood"	""
"0000427764"	"00426444"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427765"	"00426445"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427766"	"00426446"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427767"	"00426447"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427768"	"00426448"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427769"	"00426449"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427770"	"00426450"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427771"	"00426451"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;PCRq;PCRlr;SEQ"	"DNA"	"blood"	""
"0000427772"	"00426452"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;ASO;SEQ"	"DNA"	"blood"	""
"0000427773"	"00426453"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;ASO;SEQ"	"DNA"	"blood"	""
"0000427774"	"00426454"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;ASO;SEQ"	"DNA"	"blood"	""
"0000427775"	"00426455"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;ASO;SEQ"	"DNA"	"blood"	""
"0000427776"	"00426456"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;ASO;SEQ"	"DNA"	"blood"	""
"0000427777"	"00426457"	"1"	"00000"	"03840"	"2022-11-30 12:31:10"	""	""	"STR;ASO;SEQ"	"DNA"	"blood"	""
"0000427778"	"00426458"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427779"	"00426459"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427780"	"00426460"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427781"	"00426461"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427782"	"00426462"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427783"	"00426463"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427784"	"00426464"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427785"	"00426465"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427786"	"00426466"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427787"	"00426467"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000427788"	"00426468"	"1"	"00000"	"03840"	"2022-11-30 13:37:24"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000428080"	"00426760"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428081"	"00426761"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428082"	"00426762"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428083"	"00426763"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428084"	"00426764"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428085"	"00426765"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428086"	"00426766"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428087"	"00426767"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428088"	"00426768"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"PCR;SSCA"	"DNA"	""	""
"0000428089"	"00426769"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428090"	"00426770"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428091"	"00426771"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428092"	"00426772"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428093"	"00426773"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428094"	"00426774"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428095"	"00426775"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428096"	"00426776"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428097"	"00426777"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428098"	"00426778"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428099"	"00426779"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428100"	"00426780"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428101"	"00426781"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428102"	"00426782"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428103"	"00426783"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428104"	"00426784"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428105"	"00426785"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428106"	"00426786"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428107"	"00426787"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428108"	"00426788"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428109"	"00426789"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428110"	"00426790"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428111"	"00426791"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428112"	"00426792"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428113"	"00426793"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428114"	"00426794"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428115"	"00426795"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428116"	"00426796"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428117"	"00426797"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428118"	"00426798"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SSCA;HD"	"DNA"	""	""
"0000428119"	"00426799"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428120"	"00426800"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428123"	"00426803"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428124"	"00426804"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428125"	"00426805"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428126"	"00426806"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428127"	"00426807"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428128"	"00426808"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428129"	"00426809"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428130"	"00426810"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428131"	"00426811"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428132"	"00426812"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428133"	"00426813"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428134"	"00426814"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428135"	"00426815"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428136"	"00426816"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428137"	"00426817"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428138"	"00426818"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428139"	"00426819"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428140"	"00426820"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"PCRlr;MLPA"	"DNA"	""	""
"0000428141"	"00426821"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"PCRlr;MLPA"	"DNA"	""	""
"0000428142"	"00426822"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428143"	"00426823"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428144"	"00426824"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428145"	"00426825"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"?"	"DNA"	""	""
"0000428146"	"00426826"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428147"	"00426827"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428148"	"00426828"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428149"	"00426829"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428150"	"00426830"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428151"	"00426831"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428152"	"00426832"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000428153"	"00426833"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000428154"	"00426834"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000428155"	"00426835"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000428156"	"00426836"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000428157"	"00426837"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000428158"	"00426838"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428159"	"00426839"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428160"	"00426840"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428161"	"00426841"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428162"	"00426842"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428163"	"00426843"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428164"	"00426844"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428165"	"00426845"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428166"	"00426846"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428167"	"00426847"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428168"	"00426848"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428169"	"00426849"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428170"	"00426850"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428171"	"00426851"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428172"	"00426852"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428173"	"00426853"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428174"	"00426854"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;Western"	"DNA"	""	""
"0000428175"	"00426855"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;Western"	"DNA"	""	""
"0000428176"	"00426856"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;Western"	"DNA"	""	""
"0000428177"	"00426857"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;Western"	"DNA"	""	""
"0000428178"	"00426858"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;Western"	"DNA"	""	""
"0000428179"	"00426859"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428180"	"00426860"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428181"	"00426861"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428182"	"00426862"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428183"	"00426863"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428184"	"00426864"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428185"	"00426865"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428186"	"00426866"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428187"	"00426867"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428188"	"00426868"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428189"	"00426869"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428190"	"00426870"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428191"	"00426871"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428192"	"00426872"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428193"	"00426873"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428194"	"00426874"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428195"	"00426875"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428196"	"00426876"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000428197"	"00426877"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428198"	"00426878"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428199"	"00426879"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428200"	"00426880"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428201"	"00426881"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428202"	"00426882"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428203"	"00426883"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428204"	"00426884"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428205"	"00426885"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428206"	"00426886"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428207"	"00426887"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428208"	"00426888"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428209"	"00426889"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428210"	"00426890"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428211"	"00426891"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;RT-PCR;Western"	"DNA;RNA"	""	""
"0000428258"	"00426938"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428259"	"00426939"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000430926"	"00429513"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430991"	"00429578"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431012"	"00429599"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431026"	"00429613"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431054"	"00429641"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431068"	"00429655"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431071"	"00429658"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431121"	"00429708"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431146"	"00429733"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431194"	"00429781"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431216"	"00429803"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431298"	"00429885"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431315"	"00429902"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431360"	"00429947"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431453"	"00430040"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000436891"	"00435411"	"1"	"00006"	"00006"	"2023-07-24 13:58:03"	""	""	"SEQ-NG"	"DNA"	""	""
"0000443150"	"00441664"	"1"	"04542"	"00008"	"2023-11-09 09:55:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"Published as WGS"
"0000443151"	"00441665"	"1"	"04542"	"00008"	"2023-11-09 09:55:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"Published as WGS"
"0000446958"	"00445387"	"1"	"00006"	"00006"	"2024-01-12 10:05:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000448504"	"00446927"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448508"	"00446931"	"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"
"0000448516"	"00446939"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448518"	"00446941"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448519"	"00446942"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448520"	"00446943"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448521"	"00446944"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448523"	"00446946"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448532"	"00446955"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448533"	"00446956"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448536"	"00446959"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448598"	"00447021"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448836"	"00447259"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448851"	"00447274"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448863"	"00447286"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448884"	"00447307"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448895"	"00447318"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448896"	"00447319"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449031"	"00447454"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449162"	"00447585"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449165"	"00447588"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449168"	"00447591"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449170"	"00447593"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000460634"	"00459013"	"1"	"00006"	"00006"	"2024-12-23 17:39:48"	""	""	"SEQ-NG"	"DNA"	""	""
"0000460635"	"00459014"	"1"	"00006"	"00006"	"2024-12-23 17:46:06"	""	""	"SEQ-NG"	"DNA"	""	""
"0000460636"	"00459015"	"1"	"00006"	"00006"	"2024-12-23 17:52:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000462726"	"00461094"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000462728"	"00461096"	"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 = 779
"{{screeningid}}"	"{{geneid}}"
"0000033215"	"PROM1"
"0000033215"	"PRPF31"
"0000033236"	"PRPF31"
"0000105521"	"PRPF31"
"0000234608"	"PRPF31"
"0000234609"	"PRPF31"
"0000234610"	"PRPF31"
"0000234611"	"PRPF31"
"0000234612"	"PRPF31"
"0000234613"	"PRPF31"
"0000234614"	"PRPF31"
"0000234615"	"PRPF31"
"0000234616"	"PRPF31"
"0000234617"	"PRPF31"
"0000234618"	"PRPF31"
"0000234619"	"PRPF31"
"0000301723"	"PRPF31"
"0000301724"	"PRPF31"
"0000310453"	"PRPF31"
"0000310454"	"PRPF31"
"0000310455"	"PRPF31"
"0000310456"	"PRPF31"
"0000321215"	"PRPF31"
"0000321216"	"PRPF31"
"0000321217"	"PRPF31"
"0000321218"	"PRPF31"
"0000321219"	"PRPF31"
"0000321220"	"PRPF31"
"0000321221"	"PRPF31"
"0000321222"	"PRPF31"
"0000321223"	"PRPF31"
"0000321224"	"PRPF31"
"0000326694"	"PRPF31"
"0000326703"	"PRPF31"
"0000326735"	"PRPF31"
"0000329176"	"PRPF31"
"0000329306"	"PRPF31"
"0000329340"	"PRPF31"
"0000329363"	"PRPF31"
"0000332505"	"PRPF31"
"0000333760"	"PRPF31"
"0000334581"	"PRPF31"
"0000334607"	"PRPF31"
"0000334733"	"PRPF31"
"0000334734"	"PRPF31"
"0000334735"	"PRPF31"
"0000334736"	"PRPF31"
"0000334737"	"PRPF31"
"0000334754"	"PRPF31"
"0000334791"	"PRPF31"
"0000334792"	"PRPF31"
"0000334793"	"PRPF31"
"0000334794"	"PRPF31"
"0000334795"	"PRPF31"
"0000334815"	"PRPF31"
"0000334816"	"PRPF31"
"0000334817"	"PRPF31"
"0000334818"	"PRPF31"
"0000335653"	"PRPF31"
"0000335654"	"PRPF31"
"0000335655"	"PRPF31"
"0000335804"	"IMPG2"
"0000335804"	"PRPF31"
"0000336374"	"PRPF31"
"0000336375"	"PRPF31"
"0000336537"	"PRPF31"
"0000336543"	"PRPF31"
"0000336544"	"PRPF31"
"0000336625"	"PRPF31"
"0000336635"	"PRPF31"
"0000336670"	"PRPF31"
"0000336800"	"PRPF31"
"0000336801"	"PRPF31"
"0000336802"	"PRPF31"
"0000336803"	"PRPF31"
"0000336804"	"PRPF31"
"0000336805"	"PRPF31"
"0000336806"	"PRPF31"
"0000336807"	"PRPF31"
"0000336808"	"PRPF31"
"0000336881"	"PRPF31"
"0000336882"	"PRPF31"
"0000336883"	"PRPF31"
"0000336884"	"PRPF31"
"0000336885"	"PRPF31"
"0000336886"	"PRPF31"
"0000336887"	"PRPF31"
"0000336888"	"PRPF31"
"0000336889"	"PRPF31"
"0000336890"	"PRPF31"
"0000336891"	"PRPF31"
"0000337180"	"PRPF31"
"0000359962"	"PRPF31"
"0000360010"	"PRPF31"
"0000360011"	"PRPF31"
"0000360012"	"PRPF31"
"0000360013"	"PRPF31"
"0000360014"	"PRPF31"
"0000360168"	"PRPF31"
"0000364116"	"PRPF31"
"0000364632"	"PRPF31"
"0000364648"	"PRPF31"
"0000364735"	"PRPF31"
"0000364736"	"PRPF31"
"0000373291"	"PRPF31"
"0000373308"	"PRPF31"
"0000373314"	"PRPF31"
"0000373315"	"PRPF31"
"0000374701"	"PRPF31"
"0000374703"	"PRPF31"
"0000375071"	"PRPF31"
"0000376499"	"PRPF31"
"0000376500"	"PRPF31"
"0000376535"	"PRPF31"
"0000376644"	"PRPF31"
"0000376645"	"PRPF31"
"0000377385"	"PRPF31"
"0000377687"	"PRPF31"
"0000377687"	"RHO"
"0000377688"	"PRPF31"
"0000377688"	"RHO"
"0000377689"	"PRPF31"
"0000377689"	"RHO"
"0000377690"	"PRPF31"
"0000377690"	"RHO"
"0000377691"	"PRPF31"
"0000377691"	"RHO"
"0000377692"	"PRPF31"
"0000377692"	"RHO"
"0000377693"	"PRPF31"
"0000377693"	"RHO"
"0000377694"	"PRPF31"
"0000377694"	"RHO"
"0000377695"	"PRPF31"
"0000377696"	"PRPF31"
"0000377697"	"PRPF31"
"0000377698"	"PRPF31"
"0000377699"	"PRPF31"
"0000377700"	"PRPF31"
"0000377701"	"PRPF31"
"0000377702"	"PRPF31"
"0000377703"	"PRPF31"
"0000377704"	"PRPF31"
"0000377705"	"PRPF31"
"0000378241"	"PRPF31"
"0000378242"	"PRPF31"
"0000378371"	"PRPF31"
"0000378372"	"PRPF31"
"0000378599"	"PRPF31"
"0000378600"	"PRPF31"
"0000378601"	"PRPF31"
"0000378602"	"PRPF31"
"0000378603"	"PRPF31"
"0000378604"	"PRPF31"
"0000378605"	"PRPF31"
"0000378606"	"PRPF31"
"0000378607"	"PRPF31"
"0000378608"	"PRPF31"
"0000378609"	"PRPF31"
"0000378610"	"PRPF31"
"0000378611"	"PRPF31"
"0000378612"	"PRPF31"
"0000378613"	"PRPF31"
"0000378614"	"PRPF31"
"0000378708"	"PRPF31"
"0000378709"	"PRPF31"
"0000378710"	"PRPF31"
"0000378711"	"PRPF31"
"0000378712"	"PRPF31"
"0000378929"	"PRPF31"
"0000378932"	"PRPF31"
"0000379144"	"PRPF31"
"0000380543"	"PRPF31"
"0000380543"	"RPGR"
"0000380731"	"PRPF31"
"0000380815"	"PRPF31"
"0000380816"	"PRPF31"
"0000381062"	"PRPF31"
"0000381063"	"PRPF31"
"0000381064"	"PRPF31"
"0000381392"	"PRPF31"
"0000381405"	"PRPF31"
"0000381406"	"PRPF31"
"0000382059"	"PRPF31"
"0000382060"	"PRPF31"
"0000382061"	"PRPF31"
"0000382062"	"PRPF31"
"0000382063"	"PRPF31"
"0000382064"	"PRPF31"
"0000382223"	"PRPF31"
"0000382313"	"PRPF31"
"0000382449"	"PRPF31"
"0000382821"	"PRPF31"
"0000382822"	"PRPF31"
"0000382835"	"PRPF31"
"0000382876"	"ABCA4"
"0000382879"	"PRPF31"
"0000382897"	"ABCA4"
"0000382914"	"PRPF31"
"0000382924"	"PRPF31"
"0000382927"	"PRPF31"
"0000382983"	"PRPF31"
"0000382984"	"PRPF31"
"0000382985"	"PRPF31"
"0000382986"	"PRPF31"
"0000382987"	"PRPF31"
"0000382988"	"PRPF31"
"0000382989"	"PRPF31"
"0000382990"	"PRPF31"
"0000383112"	"PRPF31"
"0000383113"	"PRPF31"
"0000383114"	"PRPF31"
"0000383115"	"PRPF31"
"0000383116"	"PRPF31"
"0000383117"	"PRPF31"
"0000383118"	"PRPF31"
"0000383119"	"PRPF31"
"0000383565"	"PRPF31"
"0000383566"	"PRPF31"
"0000383567"	"PRPF31"
"0000383568"	"PRPF31"
"0000383569"	"PRPF31"
"0000383570"	"USH1C"
"0000383571"	"PRPF31"
"0000383572"	"PRPF31"
"0000383573"	"PRPF31"
"0000383574"	"PRPF31"
"0000383579"	"PRPF31"
"0000383587"	"PRPF31"
"0000383793"	"TRPM1"
"0000383794"	"PRPF31"
"0000383795"	"PRPF31"
"0000384284"	"PRPF31"
"0000384285"	"RHO"
"0000384288"	"PRPF31"
"0000384289"	"PRPF31"
"0000384299"	"PRPF31"
"0000384309"	"PRPF31"
"0000384313"	"PRPF31"
"0000384315"	"PRPF31"
"0000384320"	"PRPF31"
"0000385668"	"PRPF31"
"0000385860"	"PRPF31"
"0000386344"	"PRPF31"
"0000386345"	"PRPF31"
"0000386346"	"PRPF31"
"0000386955"	"PRPF31"
"0000387075"	"PRPF31"
"0000387401"	"KIZ"
"0000387443"	"PRPF31"
"0000387444"	"PRPF31"
"0000387445"	"PRPF31"
"0000387450"	"PRPF31"
"0000387487"	"PRPF31"
"0000387773"	"PRPF31"
"0000387787"	"PRPF31"
"0000387789"	"PRPF31"
"0000387794"	"PRPF31"
"0000387809"	"PRPF31"
"0000387820"	"PRPF31"
"0000387832"	"PRPF31"
"0000387844"	"PRPF31"
"0000387876"	"PRPF31"
"0000387882"	"PRPF31"
"0000387913"	"PRPF31"
"0000387923"	"PRPF31"
"0000387924"	"PRPF31"
"0000387926"	"PRPF31"
"0000387930"	"PRPF31"
"0000387963"	"PRPF31"
"0000387974"	"PRPF31"
"0000387983"	"PRPF31"
"0000387996"	"PRPF31"
"0000388000"	"PRPF31"
"0000388013"	"PRPF31"
"0000388056"	"PRPF31"
"0000388078"	"PRPF31"
"0000388082"	"PRPF31"
"0000388207"	"PRPF31"
"0000388208"	"PRPF31"
"0000388209"	"PRPF31"
"0000388210"	"PRPF31"
"0000388211"	"PRPF31"
"0000388212"	"PRPF31"
"0000388213"	"PRPF31"
"0000388214"	"PRPF31"
"0000388215"	"PRPF31"
"0000388216"	"PRPF31"
"0000389747"	"PRPF31"
"0000389971"	"PRPF31"
"0000389972"	"PRPF31"
"0000389973"	"PRPF31"
"0000390015"	"PRPF31"
"0000390016"	"PRPF31"
"0000390017"	"PRPF31"
"0000390018"	"PRPF31"
"0000390019"	"PRPF31"
"0000390020"	"PRPF31"
"0000390021"	"PRPF31"
"0000390202"	"PRPF31"
"0000390203"	"PRPF31"
"0000390435"	"PRPF31"
"0000390436"	"PRPF31"
"0000390439"	"PRPF31"
"0000390440"	"PRPF31"
"0000390487"	"PRPF31"
"0000390675"	"PRPF31"
"0000390676"	"PRPF31"
"0000390690"	"PRPF31"
"0000390691"	"PRPF31"
"0000390692"	"PRPF31"
"0000390779"	"PRPF31"
"0000390791"	"PRPF31"
"0000390792"	"PRPF31"
"0000390793"	"PRPF31"
"0000390794"	"PRPF31"
"0000390795"	"PRPF31"
"0000390814"	"PRPF31"
"0000390815"	"PRPF31"
"0000390817"	"PRPF31"
"0000390831"	"PRPF31"
"0000390832"	"PRPF31"
"0000390839"	"PRPF31"
"0000390877"	"PRPF31"
"0000390884"	"PRPF31"
"0000390887"	"PRPF31"
"0000390891"	"PRPF31"
"0000390894"	"PRPF31"
"0000390898"	"PRPF31"
"0000390899"	"PRPF31"
"0000390903"	"PRPF31"
"0000390907"	"PRPF31"
"0000390908"	"PRPF31"
"0000390943"	"PRPF31"
"0000390946"	"PRPF31"
"0000390947"	"PRPF31"
"0000390948"	"PRPF31"
"0000391039"	"PRPF31"
"0000391068"	"PRPF31"
"0000391097"	"PRPF31"
"0000391104"	"PRPF31"
"0000391114"	"PRPF31"
"0000391121"	"PRPF31"
"0000391184"	"PRPF31"
"0000391191"	"PRPF31"
"0000391226"	"PRPF31"
"0000391233"	"PRPF31"
"0000391249"	"PRPF31"
"0000391250"	"PRPF31"
"0000391252"	"PRPF31"
"0000391591"	"PRPF31"
"0000391592"	"PRPF31"
"0000391593"	"PRPF31"
"0000391721"	"PRPF31"
"0000391722"	"PRPF31"
"0000393555"	"PRPF31"
"0000393557"	"PRPF31"
"0000393561"	"PRPF31"
"0000393562"	"PRPF31"
"0000393565"	"PRPF31"
"0000393566"	"PRPF31"
"0000393573"	"PRPF31"
"0000393581"	"PRPF31"
"0000393582"	"PRPF31"
"0000393584"	"PRPF31"
"0000393586"	"PRPF31"
"0000393587"	"PRPF31"
"0000393593"	"PRPF31"
"0000393596"	"PRPF31"
"0000393598"	"PRPF31"
"0000393601"	"PRPF31"
"0000393614"	"PRPF31"
"0000393619"	"PRPF31"
"0000393620"	"PRPF31"
"0000393626"	"PRPF31"
"0000394762"	"PRPF31"
"0000394824"	"PRPF31"
"0000394848"	"PRPF31"
"0000394907"	"PRPF31"
"0000394916"	"PRPF31"
"0000394929"	"PRPF31"
"0000394941"	"PRPF31"
"0000394996"	"PRPF31"
"0000395005"	"PRPF31"
"0000395041"	"PRPF31"
"0000395072"	"PRPF31"
"0000395157"	"PRPF31"
"0000395574"	"PRPF31"
"0000395575"	"PRPF31"
"0000395732"	"PRPF31"
"0000395733"	"PRPF31"
"0000395734"	"PRPF31"
"0000395735"	"PRPF31"
"0000395736"	"PRPF31"
"0000397091"	"PRPF31"
"0000397101"	"PRPF31"
"0000397116"	"PRPF31"
"0000397130"	"PRPF31"
"0000397155"	"PRPF31"
"0000397170"	"PRPF31"
"0000397189"	"PRPF31"
"0000397727"	"PRPF31"
"0000397765"	"USH2A"
"0000397878"	"CACNA1F"
"0000421741"	"PRPF31"
"0000421742"	"PRPF31"
"0000421757"	"PRPF31"
"0000421797"	"PRPF31"
"0000421815"	"PRPF31"
"0000421862"	"PRPF31"
"0000421871"	"PRPF31"
"0000422110"	"PRPF31"
"0000422111"	"PRPF31"
"0000422112"	"PRPF31"
"0000422113"	"PRPF31"
"0000422114"	"PRPF31"
"0000422115"	"PRPF31"
"0000422116"	"PRPF31"
"0000422117"	"PRPF31"
"0000422118"	"PRPF31"
"0000422119"	"PRPF31"
"0000422120"	"PRPF31"
"0000422121"	"PRPF31"
"0000422122"	"PRPF31"
"0000422123"	"PRPF31"
"0000422124"	"PRPF31"
"0000422125"	"PRPF31"
"0000422126"	"PRPF31"
"0000422127"	"PRPF31"
"0000422128"	"PRPF31"
"0000422129"	"PRPF31"
"0000422130"	"PRPF31"
"0000422131"	"PRPF31"
"0000422132"	"PRPF31"
"0000422133"	"PRPF31"
"0000422134"	"PRPF31"
"0000422135"	"PRPF31"
"0000422136"	"PRPF31"
"0000422137"	"PRPF31"
"0000422138"	"PRPF31"
"0000426294"	"PRPF31"
"0000426295"	"PRPF31"
"0000426296"	"PRPF31"
"0000426297"	"PRPF31"
"0000426298"	"PRPF31"
"0000426299"	"PRPF31"
"0000426300"	"PRPF31"
"0000426301"	"PRPF31"
"0000426302"	"PRPF31"
"0000426303"	"PRPF31"
"0000426304"	"PRPF31"
"0000426305"	"PRPF31"
"0000426306"	"PRPF31"
"0000426307"	"PRPF31"
"0000426308"	"PRPF31"
"0000426309"	"PRPF31"
"0000426310"	"PRPF31"
"0000426311"	"PRPF31"
"0000426312"	"PRPF31"
"0000426313"	"PRPF31"
"0000426314"	"PRPF31"
"0000426315"	"PRPF31"
"0000426316"	"PRPF31"
"0000426317"	"PRPF31"
"0000426318"	"PRPF31"
"0000426319"	"PRPF31"
"0000426320"	"PRPF31"
"0000426321"	"PRPF31"
"0000426322"	"PRPF31"
"0000426323"	"PRPF31"
"0000426324"	"PRPF31"
"0000426325"	"PRPF31"
"0000426326"	"PRPF31"
"0000427081"	"PRPF31"
"0000427082"	"PRPF31"
"0000427083"	"PRPF31"
"0000427084"	"PRPF31"
"0000427085"	"PRPF31"
"0000427086"	"PRPF31"
"0000427087"	"PRPF31"
"0000427088"	"PRPF31"
"0000427089"	"PRPF31"
"0000427099"	"PRPF31"
"0000427100"	"PRPF31"
"0000427101"	"PRPF31"
"0000427103"	"PRPF31"
"0000427104"	"PRPF31"
"0000427105"	"PRPF31"
"0000427106"	"PRPF31"
"0000427107"	"PRPF31"
"0000427108"	"PRPF31"
"0000427109"	"PRPF31"
"0000427110"	"PRPF31"
"0000427190"	"PRPF31"
"0000427191"	"PRPF31"
"0000427192"	"PRPF31"
"0000427193"	"PRPF31"
"0000427194"	"PRPF31"
"0000427195"	"PRPF31"
"0000427196"	"PRPF31"
"0000427197"	"PRPF31"
"0000427198"	"PRPF31"
"0000427199"	"PRPF31"
"0000427200"	"PRPF31"
"0000427201"	"PRPF31"
"0000427202"	"PRPF31"
"0000427203"	"PRPF31"
"0000427204"	"PRPF31"
"0000427205"	"PRPF31"
"0000427206"	"PRPF31"
"0000427207"	"PRPF31"
"0000427208"	"PRPF31"
"0000427209"	"PRPF31"
"0000427210"	"PRPF31"
"0000427211"	"PRPF31"
"0000427212"	"PRPF31"
"0000427213"	"PRPF31"
"0000427214"	"PRPF31"
"0000427215"	"PRPF31"
"0000427362"	"PRPF31"
"0000427363"	"PRPF31"
"0000427364"	"PRPF31"
"0000427365"	"PRPF31"
"0000427366"	"PRPF31"
"0000427367"	"PRPF31"
"0000427368"	"PRPF31"
"0000427665"	"PRPF31"
"0000427666"	"PRPF31"
"0000427667"	"PRPF31"
"0000427668"	"PRPF31"
"0000427669"	"PRPF31"
"0000427670"	"PRPF31"
"0000427671"	"PRPF31"
"0000427672"	"PRPF31"
"0000427673"	"PRPF31"
"0000427674"	"PRPF31"
"0000427675"	"PRPF31"
"0000427676"	"PRPF31"
"0000427677"	"PRPF31"
"0000427678"	"PRPF31"
"0000427679"	"PRPF31"
"0000427680"	"PRPF31"
"0000427681"	"PRPF31"
"0000427682"	"PRPF31"
"0000427683"	"PRPF31"
"0000427684"	"PRPF31"
"0000427685"	"PRPF31"
"0000427686"	"PRPF31"
"0000427687"	"PRPF31"
"0000427688"	"PRPF31"
"0000427689"	"PRPF31"
"0000427690"	"PRPF31"
"0000427691"	"PRPF31"
"0000427692"	"PRPF31"
"0000427693"	"PRPF31"
"0000427694"	"PRPF31"
"0000427695"	"PRPF31"
"0000427696"	"PRPF31"
"0000427697"	"PRPF31"
"0000427698"	"PRPF31"
"0000427699"	"PRPF31"
"0000427700"	"PRPF31"
"0000427701"	"PRPF31"
"0000427702"	"PRPF31"
"0000427703"	"PRPF31"
"0000427714"	"PRPF31"
"0000427715"	"PRPF31"
"0000427716"	"PRPF31"
"0000427717"	"PRPF31"
"0000427718"	"PRPF31"
"0000427719"	"PRPF31"
"0000427720"	"PRPF31"
"0000427721"	"PRPF31"
"0000427722"	"PRPF31"
"0000427723"	"PRPF31"
"0000427724"	"PRPF31"
"0000427725"	"PRPF31"
"0000427726"	"PRPF31"
"0000427727"	"PRPF31"
"0000427728"	"PRPF31"
"0000427729"	"PRPF31"
"0000427745"	"PRPF31"
"0000427746"	"PRPF31"
"0000427747"	"PRPF31"
"0000427748"	"PRPF31"
"0000427749"	"PRPF31"
"0000427750"	"PRPF31"
"0000427751"	"PRPF31"
"0000427752"	"PRPF31"
"0000427753"	"PRPF31"
"0000427754"	"PRPF31"
"0000427755"	"PRPF31"
"0000427756"	"PRPF31"
"0000427757"	"PRPF31"
"0000427758"	"PRPF31"
"0000427759"	"PRPF31"
"0000427760"	"PRPF31"
"0000427761"	"PRPF31"
"0000427762"	"PRPF31"
"0000427763"	"PRPF31"
"0000427764"	"PRPF31"
"0000427765"	"PRPF31"
"0000427766"	"PRPF31"
"0000427767"	"PRPF31"
"0000427768"	"PRPF31"
"0000427769"	"PRPF31"
"0000427770"	"PRPF31"
"0000427771"	"PRPF31"
"0000427772"	"PRPF31"
"0000427773"	"PRPF31"
"0000427774"	"PRPF31"
"0000427775"	"PRPF31"
"0000427776"	"PRPF31"
"0000427777"	"PRPF31"
"0000427778"	"PRPF31"
"0000427779"	"PRPF31"
"0000427780"	"PRPF31"
"0000427781"	"PRPF31"
"0000427782"	"PRPF31"
"0000427783"	"PRPF31"
"0000427784"	"PRPF31"
"0000427785"	"PRPF31"
"0000427786"	"PRPF31"
"0000427787"	"PRPF31"
"0000427788"	"PRPF31"
"0000428080"	"PRPF31"
"0000428081"	"PRPF31"
"0000428082"	"PRPF31"
"0000428083"	"PRPF31"
"0000428084"	"PRPF31"
"0000428085"	"PRPF31"
"0000428086"	"PRPF31"
"0000428087"	"PRPF31"
"0000428088"	"PRPF31"
"0000428089"	"PRPF31"
"0000428090"	"PRPF31"
"0000428091"	"PRPF31"
"0000428092"	"PRPF31"
"0000428093"	"PRPF31"
"0000428094"	"PRPF31"
"0000428095"	"PRPF31"
"0000428096"	"PRPF31"
"0000428097"	"PRPF31"
"0000428098"	"PRPF31"
"0000428099"	"PRPF31"
"0000428100"	"PRPF31"
"0000428101"	"PRPF31"
"0000428102"	"PRPF31"
"0000428103"	"PRPF31"
"0000428104"	"PRPF31"
"0000428105"	"PRPF31"
"0000428106"	"PRPF31"
"0000428107"	"PRPF31"
"0000428108"	"PRPF31"
"0000428109"	"PRPF31"
"0000428110"	"PRPF31"
"0000428111"	"PRPF31"
"0000428112"	"PRPF31"
"0000428113"	"PRPF31"
"0000428114"	"PRPF31"
"0000428115"	"PRPF31"
"0000428116"	"PRPF31"
"0000428117"	"PRPF31"
"0000428118"	"PRPF31"
"0000428119"	"PRPF31"
"0000428120"	"PRPF31"
"0000428123"	"PRPF31"
"0000428124"	"PRPF31"
"0000428125"	"PRPF31"
"0000428126"	"PRPF31"
"0000428127"	"PRPF31"
"0000428128"	"PRPF31"
"0000428129"	"PRPF31"
"0000428130"	"PRPF31"
"0000428131"	"PRPF31"
"0000428132"	"PRPF31"
"0000428133"	"PRPF31"
"0000428134"	"PRPF31"
"0000428135"	"PRPF31"
"0000428136"	"PRPF31"
"0000428137"	"PRPF31"
"0000428138"	"PRPF31"
"0000428139"	"PRPF31"
"0000428140"	"PRPF31"
"0000428141"	"PRPF31"
"0000428142"	"PRPF31"
"0000428143"	"PRPF31"
"0000428144"	"PRPF31"
"0000428145"	"PRPF31"
"0000428146"	"PRPF31"
"0000428147"	"PRPF31"
"0000428148"	"PRPF31"
"0000428149"	"PRPF31"
"0000428150"	"PRPF31"
"0000428151"	"PRPF31"
"0000428152"	"PRPF31"
"0000428153"	"PRPF31"
"0000428154"	"PRPF31"
"0000428155"	"PRPF31"
"0000428156"	"PRPF31"
"0000428157"	"PRPF31"
"0000428158"	"PRPF31"
"0000428159"	"PRPF31"
"0000428160"	"PRPF31"
"0000428161"	"PRPF31"
"0000428162"	"PRPF31"
"0000428163"	"PRPF31"
"0000428164"	"PRPF31"
"0000428165"	"PRPF31"
"0000428166"	"PRPF31"
"0000428167"	"PRPF31"
"0000428168"	"PRPF31"
"0000428169"	"PRPF31"
"0000428170"	"PRPF31"
"0000428171"	"PRPF31"
"0000428172"	"PRPF31"
"0000428173"	"PRPF31"
"0000428174"	"PRPF31"
"0000428175"	"PRPF31"
"0000428176"	"PRPF31"
"0000428177"	"PRPF31"
"0000428178"	"PRPF31"
"0000428179"	"PRPF31"
"0000428180"	"PRPF31"
"0000428181"	"PRPF31"
"0000428182"	"PRPF31"
"0000428183"	"PRPF31"
"0000428184"	"PRPF31"
"0000428185"	"PRPF31"
"0000428186"	"PRPF31"
"0000428187"	"PRPF31"
"0000428188"	"PRPF31"
"0000428189"	"PRPF31"
"0000428190"	"PRPF31"
"0000428191"	"PRPF31"
"0000428192"	"PRPF31"
"0000428193"	"PRPF31"
"0000428194"	"PRPF31"
"0000428195"	"PRPF31"
"0000428196"	"PRPF31"
"0000428197"	"PRPF31"
"0000428198"	"PRPF31"
"0000428199"	"PRPF31"
"0000428200"	"PRPF31"
"0000428201"	"PRPF31"
"0000428202"	"PRPF31"
"0000428203"	"PRPF31"
"0000428204"	"PRPF31"
"0000428205"	"PRPF31"
"0000428206"	"PRPF31"
"0000428207"	"PRPF31"
"0000428208"	"PRPF31"
"0000428209"	"PRPF31"
"0000428210"	"PRPF31"
"0000428211"	"PRPF31"
"0000428258"	"PRPF31"
"0000428259"	"PRPF31"
"0000430926"	"PRPF31"
"0000430991"	"PRPF31"
"0000431012"	"PRPF31"
"0000431026"	"PRPF31"
"0000431054"	"PRPF31"
"0000431068"	"PRPF31"
"0000431071"	"PRPF31"
"0000431121"	"PRPF31"
"0000431146"	"PRPF31"
"0000431194"	"PRPF31"
"0000431216"	"PRPF31"
"0000431298"	"PRPF31"
"0000431315"	"PRPF31"
"0000431360"	"PRPF31"
"0000431453"	"PRPF31"
"0000436891"	"PRPF31"
"0000443150"	"PRPF31"
"0000443151"	"PRPF31"
"0000446958"	"PRPF31"
"0000460634"	"PRPF31"
"0000460635"	"PRPF31"
"0000460636"	"PRPF31"


## 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 = 915
"{{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}}"
"0000019482"	"0"	"90"	"19"	"54627236"	"54627236"	"del"	"0"	"00102"	"PRPF31_000004"	"g.54627236del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.54123857del"	""	"pathogenic"	""
"0000019504"	"0"	"90"	"19"	"54627943"	"54627943"	"subst"	"0"	"00102"	"PRPF31_000005"	"g.54627943C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.54124564C>T"	""	"pathogenic"	""
"0000019508"	"0"	"90"	"19"	"54627216"	"54627216"	"subst"	"0"	"00102"	"PRPF31_000003"	"g.54627216G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.54123837G>T"	""	"pathogenic"	""
"0000060166"	"1"	"90"	"19"	"54627153"	"54627153"	"subst"	"0"	"00229"	"PRPF31_000001"	"g.54627153G>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.54123774G>T"	""	"pathogenic"	""
"0000060167"	"1"	"70"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00229"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	"no"	""	"0"	""	""	"g.54126582C>T"	""	"likely pathogenic"	""
"0000170969"	"1"	"90"	"19"	"54621518"	"54626806"	"dup"	"0"	"01244"	"PRPF31_000006"	"g.54621518_54626806dup"	"7/9 patients in family"	"{PMID:de Castro-Miró 2016:28005958}"	""	"dup ex2-5"	"2 different variants segregating in family"	"Germline"	"yes"	""	"0"	""	""	"g.54118138_54123427dup"	""	"pathogenic"	"ACMG"
"0000170970"	"1"	"90"	"19"	"54621650"	"54625974"	""	"0"	"01244"	"PRPF31_000007"	"g.(54619178_54621650)_(54625974_54626832)del"	"2/9 patients in family"	"{PMID:de Castro-Miró 2016:28005958}"	""	"del ex 2-5"	"2 different variants seggregating in family"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000247641"	"0"	"50"	"19"	"54629964"	"54629964"	"subst"	"0"	"02330"	"PRPF31_000017"	"g.54629964A>C"	""	""	""	"PRPF31(NM_015629.4):c.917A>C (p.D306A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54126589A>C"	""	"VUS"	""
"0000247644"	"0"	"50"	"19"	"54625878"	"54625878"	"subst"	"0"	"02330"	"PRPF31_000025"	"g.54625878A>G"	""	""	""	"PRPF31(NM_015629.4):c.325A>G (p.I109V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54122499A>G"	""	"VUS"	""
"0000294471"	"0"	"30"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"02330"	"PRPF31_000019"	"g.54631580G>A"	""	""	""	"PRPF31(NM_015629.3):c.1073+5G>A, PRPF31(NM_015629.4):c.1073+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54128205G>A"	""	"likely benign"	""
"0000294472"	"0"	"90"	"19"	"54622014"	"54622014"	"subst"	"0"	"02330"	"PRPF31_000009"	"g.54622014G>T"	""	""	""	"PRPF31(NM_015629.4):c.238+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54118634G>T"	""	"pathogenic"	""
"0000294473"	"0"	"10"	"19"	"54625864"	"54625864"	"subst"	"2.03037E-5"	"02330"	"PRPF31_000010"	"g.54625864C>T"	""	""	""	"PRPF31(NM_015629.4):c.323-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54122485C>T"	""	"benign"	""
"0000294474"	"0"	"10"	"19"	"54626948"	"54626948"	"subst"	"0.000564972"	"02330"	"PRPF31_000012"	"g.54626948G>T"	""	""	""	"PRPF31(NM_015629.3):c.527+9G>T, PRPF31(NM_015629.4):c.527+9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54123569G>T"	""	"benign"	""
"0000294475"	"0"	"10"	"19"	"54629893"	"54629893"	"subst"	"2.50144E-5"	"02330"	"PRPF31_000015"	"g.54629893G>A"	""	""	""	"PRPF31(NM_015629.4):c.856-10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54126518G>A"	""	"benign"	""
"0000294476"	"0"	"50"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"02330"	"PRPF31_000002"	"g.54629957C>T"	""	""	""	"PRPF31(NM_015629.3):c.910C>T (p.R304C), PRPF31(NM_015629.4):c.910C>T (p.R304C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54126582C>T"	""	"VUS"	""
"0000297382"	"0"	"10"	"19"	"54632423"	"54632423"	"subst"	"0.790037"	"02325"	"PRPF31_000022"	"g.54632423T>C"	""	""	""	"PRPF31(NM_015629.4):c.1147-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54129048="	""	"benign"	""
"0000299126"	"0"	"90"	"19"	"54621952"	"54621952"	"subst"	"0"	"02329"	"PRPF31_000008"	"g.54621952G>A"	""	""	""	"PRPF31(NM_015629.4):c.178-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54118572G>A"	""	"pathogenic"	""
"0000306458"	"0"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"01943"	"PRPF31_000018"	"g.54631562C>T"	""	""	""	"PRPF31(NM_015629.3):c.1060C>T (p.R354*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	""
"0000306459"	"0"	"30"	"19"	"54631674"	"54631674"	"subst"	"8.19426E-5"	"01943"	"PRPF31_000020"	"g.54631674C>A"	""	""	""	"PRPF31(NM_015629.3):c.1074-6C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54128299C>A"	""	"likely benign"	""
"0000306460"	"0"	"90"	"19"	"54631726"	"54631726"	"subst"	"0"	"01943"	"PRPF31_000021"	"g.54631726C>T"	""	""	""	"PRPF31(NM_015629.3):c.1120C>T (p.Q374*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54128351C>T"	""	"pathogenic"	""
"0000306461"	"0"	"30"	"19"	"54626922"	"54626922"	"subst"	"4.87432E-5"	"01943"	"PRPF31_000011"	"g.54626922C>T"	""	""	""	"PRPF31(NM_015629.3):c.510C>T (p.T170=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54123543C>T"	""	"likely benign"	""
"0000306462"	"0"	"30"	"19"	"54626948"	"54626948"	"subst"	"0.000564972"	"01943"	"PRPF31_000012"	"g.54626948G>T"	""	""	""	"PRPF31(NM_015629.3):c.527+9G>T, PRPF31(NM_015629.4):c.527+9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54123569G>T"	""	"likely benign"	""
"0000306463"	"0"	"30"	"19"	"54627885"	"54627885"	"subst"	"0.000245864"	"01943"	"PRPF31_000013"	"g.54627885C>T"	""	""	""	"PRPF31(NM_015629.3):c.705C>T (p.A235=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54124506C>T"	""	"likely benign"	""
"0000306464"	"0"	"30"	"19"	"54627936"	"54627936"	"subst"	"4.07744E-5"	"01943"	"PRPF31_000014"	"g.54627936C>T"	""	""	""	"PRPF31(NM_015629.3):c.756C>T (p.L252=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54124557C>T"	""	"likely benign"	""
"0000306465"	"0"	"30"	"19"	"54629956"	"54629956"	"subst"	"0"	"01943"	"PRPF31_000016"	"g.54629956C>T"	""	""	""	"PRPF31(NM_015629.3):c.909C>T (p.A303=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54126581C>T"	""	"likely benign"	""
"0000338382"	"0"	"90"	"19"	"54625238"	"54625238"	"subst"	"0"	"02327"	"PRPF31_000024"	"g.54625238G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54121859G>A"	""	"pathogenic"	""
"0000338383"	"0"	"10"	"19"	"54632423"	"54632423"	"subst"	"0.790037"	"02327"	"PRPF31_000022"	"g.54632423T>C"	""	""	""	"PRPF31(NM_015629.4):c.1147-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54129048="	""	"benign"	""
"0000341246"	"0"	"50"	"19"	"54627181"	"54627181"	"subst"	"0"	"02327"	"PRPF31_000026"	"g.54627181C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54123802C>T"	""	"VUS"	""
"0000342585"	"0"	"50"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"02327"	"PRPF31_000002"	"g.54629957C>T"	""	""	""	"PRPF31(NM_015629.3):c.910C>T (p.R304C), PRPF31(NM_015629.4):c.910C>T (p.R304C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54126582C>T"	""	"VUS"	""
"0000344050"	"0"	"50"	"19"	"54629963"	"54629963"	"subst"	"0"	"02327"	"PRPF31_000029"	"g.54629963G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54126588G>A"	""	"VUS"	""
"0000344727"	"0"	"90"	"19"	"54628021"	"54628021"	"subst"	"0"	"02327"	"PRPF31_000028"	"g.54628021C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54124642C>T"	""	"pathogenic"	""
"0000345080"	"0"	"90"	"19"	"54621692"	"54621692"	"subst"	"0"	"02327"	"PRPF31_000023"	"g.54621692G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54118312G>T"	""	"pathogenic"	""
"0000345203"	"0"	"90"	"19"	"54627153"	"54627153"	"subst"	"0"	"02327"	"PRPF31_000001"	"g.54627153G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54123774G>T"	""	"pathogenic"	""
"0000346971"	"0"	"50"	"19"	"54627184"	"54627184"	"subst"	"0"	"02327"	"PRPF31_000027"	"g.54627184T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.54123805T>C"	""	"VUS"	""
"0000438686"	"0"	"90"	"19"	"54619178"	"54619178"	"subst"	"0"	"01244"	"PRPF31_000030"	"g.54619178G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.54115798G>A"	""	"pathogenic"	""
"0000477316"	"0"	"50"	"19"	"54625251"	"54625251"	"subst"	"5.41635E-5"	"02591"	"PRPF31_000031"	"g.54625251T>C"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs369049017"	"0"	""	""	"g.54121872T>C"	""	"VUS"	""
"0000477317"	"0"	"90"	"19"	"54625265"	"54625265"	"subst"	"0"	"02591"	"PRPF31_000032"	"g.54625265G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54121886G>T"	""	"pathogenic"	""
"0000477318"	"0"	"90"	"19"	"54625304"	"54625304"	"subst"	"0"	"02591"	"PRPF31_000033"	"g.54625304G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54121925G>T"	""	"pathogenic"	""
"0000477319"	"0"	"90"	"19"	"54625310"	"54625310"	"subst"	"0"	"02591"	"PRPF31_000034"	"g.54625310G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54121931G>T"	""	"pathogenic"	""
"0000477320"	"0"	"50"	"19"	"54625900"	"54625900"	"subst"	"0"	"02591"	"PRPF31_000035"	"g.54625900A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54122521A>G"	""	"VUS"	""
"0000477321"	"0"	"50"	"19"	"54629903"	"54629903"	"subst"	"0"	"02591"	"PRPF31_000036"	"g.54629903G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54126528G>T"	""	"VUS"	""
"0000477322"	"0"	"50"	"19"	"54631457"	"54631457"	"subst"	"0"	"02591"	"PRPF31_000037"	"g.54631457G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128082G>C"	""	"VUS"	""
"0000477323"	"0"	"90"	"19"	"54631534"	"54631534"	"dup"	"0"	"02591"	"PRPF31_000038"	"g.54631534dup"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128159dup"	""	"pathogenic"	""
"0000477324"	"0"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"02591"	"PRPF31_000018"	"g.54631562C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs868538598"	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	""
"0000477325"	"0"	"90"	"19"	"54631746"	"54631746"	"del"	"0"	"02591"	"PRPF31_000039"	"g.54631746del"	"6/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128371del"	""	"pathogenic"	""
"0000477326"	"0"	"90"	"19"	"54632439"	"54632440"	"ins"	"0"	"02591"	"PRPF31_000040"	"g.54632439_54632440insAG"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54129064_54129065insAG"	""	"pathogenic"	""
"0000477327"	"0"	"50"	"19"	"54632444"	"54632444"	"subst"	"0"	"02591"	"PRPF31_000041"	"g.54632444G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54129069G>T"	""	"VUS"	""
"0000568359"	"0"	"50"	"19"	"54625247"	"54625247"	"subst"	"0"	"02330"	"PRPF31_000042"	"g.54625247C>G"	""	""	""	"PRPF31(NM_015629.4):c.247C>G (p.P83A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54121868C>G"	""	"VUS"	""
"0000568360"	"0"	"10"	"19"	"54625980"	"54625980"	"subst"	"0.00174618"	"02330"	"PRPF31_000043"	"g.54625980G>A"	""	""	""	"PRPF31(NM_015629.4):c.420+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54122601G>A"	""	"benign"	""
"0000568361"	"0"	"50"	"19"	"54627160"	"54627160"	"subst"	"0"	"02327"	"PRPF31_000044"	"g.54627160T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54123781T>C"	""	"VUS"	""
"0000568362"	"0"	"50"	"19"	"54627232"	"54627232"	"subst"	"9.34747E-5"	"02327"	"PRPF31_000045"	"g.54627232G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54123853G>A"	""	"VUS"	""
"0000568363"	"0"	"30"	"19"	"54627245"	"54627245"	"subst"	"2.43789E-5"	"02327"	"PRPF31_000046"	"g.54627245C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54123866C>T"	""	"likely benign"	""
"0000568364"	"0"	"50"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"01943"	"PRPF31_000002"	"g.54629957C>T"	""	""	""	"PRPF31(NM_015629.3):c.910C>T (p.R304C), PRPF31(NM_015629.4):c.910C>T (p.R304C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54126582C>T"	""	"VUS"	""
"0000568365"	"0"	"30"	"19"	"54631504"	"54631504"	"subst"	"2.0121E-5"	"01943"	"PRPF31_000047"	"g.54631504G>A"	""	""	""	"PRPF31(NM_015629.3):c.1002G>A (p.P334=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128129G>A"	""	"likely benign"	""
"0000568366"	"0"	"30"	"19"	"54631672"	"54631673"	"del"	"0"	"01804"	"PRPF31_000048"	"g.54631672_54631673del"	""	""	""	"PRPF31(NM_015629.3):c.1074-8_1074-7del (p.(=)), PRPF31(NM_015629.3):c.1074-8_1074-7delGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128297_54128298del"	""	"likely benign"	""
"0000568367"	"0"	"10"	"19"	"54631704"	"54631704"	"subst"	"0.00092688"	"02330"	"PRPF31_000049"	"g.54631704G>C"	""	""	""	"PRPF31(NM_015629.4):c.1098G>C (p.L366=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128329G>C"	""	"benign"	""
"0000568368"	"0"	"70"	"19"	"54631716"	"54631723"	"del"	"0"	"02330"	"PRPF31_000050"	"g.54631716_54631723del"	""	""	""	"PRPF31(NM_015629.4):c.1110_1117delGATCCGGA (p.I371Afs*101)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128341_54128348del"	""	"likely pathogenic"	""
"0000568369"	"0"	"10"	"19"	"54631728"	"54631728"	"subst"	"0.000206002"	"02330"	"PRPF31_000051"	"g.54631728G>A"	""	""	""	"PRPF31(NM_015629.4):c.1122G>A (p.Q374=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128353G>A"	""	"benign"	""
"0000568370"	"0"	"10"	"19"	"54631768"	"54631768"	"subst"	"0.000145803"	"02330"	"PRPF31_000052"	"g.54631768C>T"	""	""	""	"PRPF31(NM_015629.4):c.1146+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128393C>T"	""	"benign"	""
"0000568371"	"0"	"90"	"19"	"54632662"	"54632662"	"subst"	"0"	"02327"	"PRPF31_000053"	"g.54632662C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54129287C>T"	""	"pathogenic"	""
"0000568372"	"0"	"10"	"19"	"54634779"	"54634779"	"subst"	"0.00171033"	"02330"	"PRPF31_000054"	"g.54634779G>A"	""	""	""	"PRPF31(NM_015629.4):c.1416G>A (p.V472=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54131348G>A"	""	"benign"	""
"0000568373"	"0"	"30"	"19"	"54634824"	"54634824"	"subst"	"0.000211276"	"01943"	"PRPF31_000055"	"g.54634824C>G"	""	""	""	"PRPF31(NM_015629.3):c.1461C>G (p.L487=), PRPF31(NM_015629.4):c.1461C>G (p.L487=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54131393C>G"	""	"likely benign"	""
"0000617851"	"0"	"30"	"19"	"54625273"	"54625273"	"subst"	"4.1309E-6"	"02330"	"PRPF31_000056"	"g.54625273C>T"	""	""	""	"PRPF31(NM_015629.4):c.273C>T (p.R91=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54121894C>T"	""	"likely benign"	""
"0000617852"	"0"	"30"	"19"	"54631528"	"54631528"	"subst"	"0"	"02330"	"PRPF31_000057"	"g.54631528G>A"	""	""	""	"PRPF31(NM_015629.4):c.1026G>A (p.P342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128153G>A"	""	"likely benign"	""
"0000617853"	"0"	"30"	"19"	"54631672"	"54631673"	"del"	"0"	"01943"	"PRPF31_000048"	"g.54631672_54631673del"	""	""	""	"PRPF31(NM_015629.3):c.1074-8_1074-7del (p.(=)), PRPF31(NM_015629.3):c.1074-8_1074-7delGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128297_54128298del"	""	"likely benign"	""
"0000617854"	"0"	"90"	"19"	"54631720"	"54631721"	"ins"	"0"	"02330"	"PRPF31_000058"	"g.54631720_54631721insCTCC"	""	""	""	"PRPF31(NM_015629.4):c.1114_1115insCTCC (p.R372Pfs*104)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54128345_54128346insCTCC"	""	"pathogenic"	""
"0000617855"	"0"	"70"	"19"	"54633399"	"54633399"	"subst"	"0"	"02330"	"PRPF31_000059"	"g.54633399C>G"	""	""	""	"PRPF31(NM_015629.4):c.1374+654C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54130024C>G"	""	"likely pathogenic"	""
"0000617856"	"0"	"30"	"19"	"54634824"	"54634824"	"subst"	"0.000211276"	"02330"	"PRPF31_000055"	"g.54634824C>G"	""	""	""	"PRPF31(NM_015629.3):c.1461C>G (p.L487=), PRPF31(NM_015629.4):c.1461C>G (p.L487=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54131393C>G"	""	"likely benign"	""
"0000624949"	"0"	"70"	"19"	"54621661"	"54621661"	"subst"	"0"	"01848"	"PRPF31_000060"	"g.54621661G>A"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	"Met1Ile"	""	"Germline"	"yes"	""	"0"	""	""	"g.54118281G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000624954"	"0"	"70"	"19"	"54627290"	"54627290"	"del"	"0"	"01848"	"PRPF31_000061"	"g.54627290del"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	"690delG"	""	"Germline"	""	""	"0"	""	""	"g.54123911del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000650052"	"1"	"30"	"19"	"54627164"	"54627164"	"subst"	"0.0226126"	"03575"	"PRPF31_000062"	"g.54627164G>A"	"23/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"23 heterozygous, no homozygous; {DB:CLININrs1058572}"	"Germline"	""	"rs1058572"	"0"	""	""	"g.54123785G>A"	""	"likely benign"	""
"0000658657"	"0"	"70"	"19"	"54621735"	"54621736"	"ins"	"0"	"02330"	"PRPF31_000063"	"g.54621735_54621736insC"	""	""	""	"PRPF31(NM_015629.4):c.77_78insC (p.E26Dfs*32)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54118355_54118356insC"	""	"likely pathogenic"	""
"0000658658"	"0"	"90"	"19"	"54621952"	"54621952"	"subst"	"0"	"02327"	"PRPF31_000008"	"g.54621952G>A"	""	""	""	"PRPF31(NM_015629.4):c.178-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.54118572G>A"	""	"pathogenic"	""
"0000664773"	"1"	"90"	"19"	"54627290"	"54627290"	"del"	"0"	"01848"	"PRPF31_000061"	"g.54627290del"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123911del"	""	"pathogenic (dominant)"	""
"0000664774"	"1"	"90"	"19"	"54621661"	"54621661"	"subst"	"0"	"01848"	"PRPF31_000060"	"g.54621661G>A"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118281G>A"	""	"pathogenic (dominant)"	""
"0000681507"	"0"	"30"	"19"	"54634843"	"54634843"	"subst"	"4.06326E-6"	"02327"	"PRPF31_000064"	"g.54634843A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000683271"	"0"	"70"	"19"	"54627975"	"54627979"	"del"	"0"	"01164"	"PRPF31_000065"	"g.54627975_54627979del"	""	""	""	""	"ACMG grading: PVS1,PM2"	"Germline"	""	""	"0"	""	""	"g.54124596_54124600del"	""	"likely pathogenic"	"ACMG"
"0000685364"	"0"	"90"	"19"	"54113356"	"54113356"	""	"0"	"00004"	"PRPF31_000066"	"g.54113356-54116922del"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.-53_-9del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685365"	"0"	"90"	"19"	"54627289"	"54627289"	"del"	"0"	"00004"	"PRPF31_000067"	"g.54627289del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.689delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685366"	"0"	"90"	"19"	"54627298"	"54627298"	"subst"	"0"	"00004"	"PRPF31_000068"	"g.54627298G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685367"	"0"	"90"	"19"	"54631714"	"54631714"	"subst"	"0"	"00004"	"PRPF31_000069"	"g.54631714G>T"	"5/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685830"	"0"	"70"	"19"	"54631754"	"54631754"	"subst"	"0"	"01807"	"PRPF31_000070"	"g.54631754T>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000692881"	"0"	"90"	"19"	"54625971"	"54625971"	"subst"	"0"	"02327"	"PRPF31_000071"	"g.54625971A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000704021"	"1"	"70"	"19"	"54628008"	"54628009"	"del"	"0"	"00008"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"828-829delCA /  H276fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704022"	"1"	"70"	"19"	"54628008"	"54628009"	"del"	"0"	"00008"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"828-829delCA /  H276fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704023"	"1"	"70"	"19"	"54628008"	"54628009"	"del"	"0"	"00008"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"828-829delCA /  H276fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704024"	"1"	"70"	"19"	"54628008"	"54628009"	"del"	"0"	"00008"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"828-829delCA /  H276fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704025"	"1"	"70"	"19"	"54627950"	"54627950"	"dup"	"0"	"00008"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"769-770insA /  K257fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704026"	"1"	"70"	"19"	"54627950"	"54627950"	"dup"	"0"	"00008"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"769-770insA /  K257fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704027"	"1"	"70"	"19"	"54627950"	"54627950"	"dup"	"0"	"00008"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"769-770insA /  K257fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704028"	"1"	"70"	"19"	"54627950"	"54627950"	"dup"	"0"	"00008"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"769-770insA /  K257fsX277"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000704029"	"1"	"90"	"19"	"54627912"	"54627917"	"delins"	"0"	"00008"	"PRPF31_000072"	"g.54627912_54627917delinsN[20]"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"732-737delins /  M244fsX248"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000704030"	"1"	"90"	"19"	"54627912"	"54627917"	"delins"	"0"	"00008"	"PRPF31_000072"	"g.54627912_54627917delinsN[20]"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"732-737delins /  M244fsX248"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000704190"	"0"	"70"	"19"	"54631446"	"54631446"	"subst"	"0"	"01807"	"PRPF31_000075"	"g.54631446A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000710286"	"1"	"90"	"19"	"54629913"	"54629926"	"del"	"0"	"00006"	"PRPF31_000077"	"g.54629913_54629926del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"866_879delGGAAAGCGGCCCGG"	""	"Germline"	""	""	"0"	""	""	"g.54126538_54126551del"	""	"pathogenic"	""
"0000710295"	"1"	"90"	"19"	"54627282"	"54627282"	"subst"	"0"	"00006"	"PRPF31_000076"	"g.54627282G>C"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123903G>C"	""	"pathogenic"	""
"0000710327"	"1"	"90"	"19"	"54629913"	"54629926"	"del"	"0"	"00006"	"PRPF31_000077"	"g.54629913_54629926del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"866_879delGGAAAGCGGCCCGG"	""	"Germline"	""	""	"0"	""	""	"g.54126538_54126551del"	""	"pathogenic"	""
"0000713299"	"0"	"90"	"19"	"54625910"	"54625910"	"del"	"0"	"00000"	"PRPF31_000079"	"g.54625910del"	""	"{PMID:Carss 2017:28041643}"	""	"19:54625909CA>C ENST00000321030.4:c.359delA (Lys120ArgfsTer78)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000713429"	"0"	"90"	"19"	"54621659"	"54621659"	"subst"	"0"	"00000"	"PRPF31_000078"	"g.54621659A>T"	""	"{PMID:Carss 2017:28041643}"	""	"19:54621659A>T ENST00000321030.4:c.1A>T (Met1?)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000713463"	"0"	"90"	"19"	"54628017"	"54628018"	"ins"	"0"	"00000"	"PRPF31_000080"	"g.54628017_54628018insCGTG"	""	"{PMID:Carss 2017:28041643}"	""	"19:54628016T>TCGTG ENST00000321030.4:c.838_841dupGTGC (Gln281ArgfsTer44)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000713486"	"0"	"90"	"19"	"54631734"	"54631734"	"del"	"0"	"00000"	"PRPF31_000081"	"g.54631734del"	""	"{PMID:Carss 2017:28041643}"	""	"19:54631733AC>A ENST00000321030.4:c.1129delC (Arg377ValfsTer2)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000727518"	"0"	"30"	"19"	"54619180"	"54619180"	"subst"	"0"	"01943"	"PRPF31_000082"	"g.54619180G>A"	""	""	""	"PRPF31(NM_015629.3):c.-9+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727519"	"0"	"50"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"01943"	"PRPF31_000019"	"g.54631580G>A"	""	""	""	"PRPF31(NM_015629.3):c.1073+5G>A, PRPF31(NM_015629.4):c.1073+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000727520"	"0"	"30"	"19"	"54631689"	"54631689"	"subst"	"2.04558E-5"	"01943"	"PRPF31_000084"	"g.54631689G>A"	""	""	""	"PRPF31(NM_015629.3):c.1083G>A (p.K361=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000729760"	"0"	"90"	"19"	"54627877"	"54627877"	"subst"	"0"	"00000"	"PRPF31_000083"	"g.54627877G>A"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54124498G>A"	""	"pathogenic"	""
"0000731001"	"1"	"70"	"19"	"54627190"	"54627190"	"subst"	"0"	"00000"	"PRPF31_000086"	"g.54627190T>C"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123811T>C"	""	"likely pathogenic (dominant)"	""
"0000731550"	"1"	"90"	"19"	"54626832"	"54626832"	"subst"	"0"	"00000"	"PRPF31_000085"	"g.54626832G>A"	""	"{PMID:Comander 2017:28981474}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123453G>A"	""	"pathogenic"	""
"0000732437"	"1"	"90"	"19"	"54629956"	"54629957"	"ins"	"0"	"00000"	"PRPF31_000094"	"g.54629956_54629957insAAGTGCACACTGGCAGCCGCC"	""	"{PMID:Costa 2017:28912962}"	""	"906_907insGCCAAGTGCACACTGGCAGCC"	""	"Germline"	""	""	"0"	""	""	"g.54126581_54126582insAAGTGCACACTGGCAGCCGCC"	""	"pathogenic"	""
"0000732539"	"1"	"90"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118615C>T"	""	"pathogenic (dominant)"	""
"0000732740"	"0"	"70"	"19"	"54618790"	"54635150"	""	"0"	"00000"	"PRPF31_000125"	"g.(?_54618790)_(54635150_?)del"	""	"{PMID:Stone 2017:28559085}"	""	"del entire gene"	""	"Germline"	""	""	"0"	""	""	"g.(?_54115410)_(54131719_?)del"	""	"likely pathogenic"	""
"0000732741"	"0"	"70"	"19"	"54618790"	"54635150"	""	"0"	"00000"	"PRPF31_000125"	"g.(?_54618790)_(54635150_?)del"	""	"{PMID:Stone 2017:28559085}"	""	"del entire gene"	""	"Germline"	""	""	"0"	""	""	"g.(?_54115410)_(54131719_?)del"	""	"likely pathogenic"	""
"0000732742"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic"	""
"0000732743"	"0"	"70"	"19"	"54626887"	"54626887"	"del"	"0"	"00000"	"PRPF31_000089"	"g.54626887del"	""	"{PMID:Stone 2017:28559085}"	""	"474delC"	""	"Germline"	""	""	"0"	""	""	"g.54123508del"	""	"likely pathogenic"	""
"0000732744"	"0"	"70"	"19"	"54627298"	"54627298"	"subst"	"0"	"00000"	"PRPF31_000091"	"g.54627298G>T"	""	"{PMID:Stone 2017:28559085}"	""	"IVS7+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.54123919G>T"	""	"likely pathogenic"	""
"0000732761"	"0"	"70"	"19"	"54629918"	"54629918"	"subst"	"0"	"00000"	"PRPF31_000093"	"g.54629918G>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54126543G>C"	""	"likely pathogenic"	""
"0000732798"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Stone 2017:28559085}"	""	"IVS10+1 G>A"	""	"Germline"	""	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic"	""
"0000732799"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Stone 2017:28559085}"	""	"IVS10+1 G>A"	""	"Germline"	""	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic"	""
"0000732800"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Stone 2017:28559085}"	""	"IVS10+1 G>A"	""	"Germline"	""	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic"	""
"0000732801"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Stone 2017:28559085}"	""	"IVS10+1 G>A"	""	"Germline"	""	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic"	""
"0000732802"	"0"	"70"	"19"	"54627938"	"54627947"	"del"	"0"	"00000"	"PRPF31_000092"	"g.54627938_54627947del"	""	"{PMID:Stone 2017:28559085}"	""	"756_765delCGGGGCCCAG"	""	"Germline"	""	""	"0"	""	""	"g.54124559_54124568del"	""	"likely pathogenic"	""
"0000732822"	"0"	"70"	"19"	"54618790"	"54635150"	""	"0"	"00000"	"PRPF31_000125"	"g.(?_54618790)_(54635150_?)del"	""	"{PMID:Stone 2017:28559085}"	""	"del entire gene"	""	"Germline"	""	""	"0"	""	""	"g.(?_54115410)_(54131719_?)del"	""	"likely pathogenic"	""
"0000732823"	"0"	"70"	"19"	"54626832"	"54626832"	"subst"	"0"	"00000"	"PRPF31_000085"	"g.54626832G>A"	""	"{PMID:Stone 2017:28559085}"	""	"IVS5-1G>A 412-1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000732824"	"0"	"70"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Stone 2017:28559085}"	""	"IVS6+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.54123561G>T"	""	"likely pathogenic"	""
"0000732825"	"0"	"70"	"19"	"54621992"	"54621992"	"subst"	"0"	"00000"	"PRPF31_000087"	"g.54621992A>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118612A>T"	""	"likely pathogenic"	""
"0000734347"	"0"	"70"	"19"	"54632507"	"54632507"	"subst"	"1.05254E-5"	"00000"	"PRPF31_000096"	"g.54632507C>T"	""	"{PMID:Huang 2017:28512305}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.54129132C>T"	""	"likely pathogenic"	""
"0000734348"	"0"	"70"	"19"	"54632516"	"54632517"	"del"	"0"	"00000"	"PRPF31_000097"	"g.54632516_54632517del"	""	"{PMID:Huang 2017:28512305}"	""	"1231_1232delCA"	""	"Unknown"	""	""	"0"	""	""	"g.54129141_54129142del"	""	"likely pathogenic"	""
"0000734349"	"0"	"70"	"19"	"54632516"	"54632517"	"del"	"0"	"00000"	"PRPF31_000097"	"g.54632516_54632517del"	""	"{PMID:Huang 2017:28512305}"	""	"1231_1232delCA"	""	"Unknown"	""	""	"0"	""	""	"g.54129141_54129142del"	""	"likely pathogenic"	""
"0000734710"	"0"	"90"	"19"	"54627282"	"54627282"	"subst"	"0"	"00000"	"PRPF31_000076"	"g.54627282G>C"	""	"{PMID:Vincent 2017:28488341}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123903G>C"	""	"pathogenic"	""
"0000735649"	"0"	"90"	"19"	"54632662"	"54632662"	"subst"	"0"	"00000"	"PRPF31_000053"	"g.54632662C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54129287C>T"	""	"pathogenic"	""
"0000735650"	"1"	"90"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54126582C>T"	""	"pathogenic"	""
"0000735933"	"0"	"70"	"19"	"54622014"	"54622014"	"subst"	"0"	"02485"	"PRPF31_000100"	"g.54622014G>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118634G>A"	""	"likely pathogenic"	""
"0000735939"	"0"	"70"	"19"	"54627969"	"54627969"	"subst"	"2.03409E-5"	"02485"	"PRPF31_000106"	"g.54627969G>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54124590G>A"	""	"likely pathogenic"	""
"0000735940"	"0"	"70"	"19"	"54625970"	"54625970"	"subst"	"1.62426E-5"	"02485"	"PRPF31_000102"	"g.54625970C>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54122591C>A"	""	"likely pathogenic"	""
"0000736070"	"0"	"70"	"19"	"54621985"	"54621985"	"subst"	"0"	"00000"	"PRPF31_000099"	"g.54621985T>G"	""	"{PMID:Huang 2018:29641573}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118605T>G"	""	"likely pathogenic"	""
"0000736080"	"0"	"70"	"19"	"54632516"	"54632517"	"del"	"0"	"00000"	"PRPF31_000097"	"g.54632516_54632517del"	""	"{PMID:Huang 2018:29641573}"	""	"c.1228_1229delAC"	""	"Germline"	""	""	"0"	""	""	"g.54129141_54129142del"	""	"likely pathogenic"	""
"0000736115"	"0"	"70"	"19"	"54632750"	"54632750"	"subst"	"1.00631E-5"	"00000"	"PRPF31_000113"	"g.54632750C>T"	""	"{PMID:Huang 2018:29641573}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54129375C>T"	""	"likely pathogenic"	""
"0000736336"	"1"	"90"	"19"	"54621692"	"54621692"	"subst"	"0"	"00000"	"PRPF31_000023"	"g.54621692G>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118312G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736337"	"1"	"90"	"19"	"54621692"	"54621692"	"subst"	"0"	"00000"	"PRPF31_000023"	"g.54621692G>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118312G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736338"	"1"	"90"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118615C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736339"	"1"	"90"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118615C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736340"	"1"	"90"	"19"	"54627127"	"54627127"	"subst"	"0"	"00000"	"PRPF31_000104"	"g.54627127G>A"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54123748G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000736341"	"1"	"90"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123762G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736342"	"1"	"90"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123762G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736343"	"1"	"90"	"19"	"54631480"	"54631484"	"del"	"0"	"00000"	"PRPF31_000110"	"g.54631480_54631484del"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128105_54128109del"	""	"pathogenic (dominant)"	"ACMG"
"0000736344"	"1"	"90"	"19"	"54631683"	"54631683"	"subst"	"0"	"00000"	"PRPF31_000112"	"g.54631683C>A"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128308C>A"	""	"pathogenic (dominant)"	"ACMG"
"0000736419"	"1"	"90"	"19"	"54621836"	"54621836"	"subst"	"0"	"00008"	"PRPF31_000098"	"g.54621836G>A"	""	"{PMID:Sullivan 2006:16799052}"	""	"IVS2+1G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736420"	"1"	"90"	"19"	"54625943"	"54625943"	"del"	"0"	"00008"	"PRPF31_000101"	"g.54625943del"	""	"{PMID:Sullivan 2006:16799052}"	""	"390delC"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736421"	"1"	"90"	"19"	"54626833"	"54626833"	"subst"	"0"	"00008"	"PRPF31_000103"	"g.54626833G>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"421G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736422"	"1"	"90"	"19"	"54627236"	"54627236"	"del"	"0"	"00008"	"PRPF31_000004"	"g.54627236del"	""	"{PMID:Sullivan 2006:16799052}"	""	"636delG"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736423"	"1"	"90"	"19"	"54627938"	"54627947"	"del"	"0"	"00008"	"PRPF31_000092"	"g.54627938_54627947del"	""	"{PMID:Sullivan 2006:16799052}"	""	"758_767del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736424"	"1"	"90"	"19"	"54631551"	"54631595"	"delins"	"0"	"00008"	"PRPF31_000111"	"g.54631551_54631595delinsCCCCT"	""	"{PMID:Sullivan 2006:16799052}"	""	"1049_IVS10+20del/insCCCCT"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736425"	"1"	"90"	"19"	"54631576"	"54631576"	"subst"	"0"	"00008"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Sullivan 2006:16799052}"	""	"IVS10+1G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736426"	"1"	"90"	"19"	"54631475"	"54631475"	"subst"	"0"	"00008"	"PRPF31_000109"	"g.54631475G>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"973G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736427"	"1"	"70"	"19"	"54629918"	"54629918"	"subst"	"0"	"00008"	"PRPF31_000093"	"g.54629918G>C"	""	"{PMID:Sullivan 2006:16799052}"	""	"871G>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000736428"	"1"	"70"	"19"	"54629942"	"54629942"	"subst"	"0"	"00008"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Sullivan 2006:16799052}"	""	"895T>C"	"1 Nonpenetrant if pathogenic"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000736429"	"1"	"10"	"19"	"54627995"	"54627995"	"subst"	"0"	"00008"	"PRPF31_000107"	"g.54627995G>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"815G>T"	"Chinese variant"	"Germline"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000736804"	"1"	"70"	"19"	"54627877"	"54627877"	"subst"	"0"	"00000"	"PRPF31_000083"	"g.54627877G>A"	""	"{PMID:Roberts 2016:27898983}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54124498G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000759593"	"1"	"90"	"19"	"54632475"	"54632475"	"dup"	"0"	"00000"	"PRPF31_000116"	"g.54632475dup"	""	"{PMID:Carrigan 2016:27624628}"	""	"1190dupG"	""	"Germline"	""	""	"0"	""	""	"g.54129100dup"	""	"pathogenic"	""
"0000759652"	"0"	"90"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Zhang 2016:27596865}"	""	"c.322+4_322+7delAGTG"	""	"Germline"	""	""	"0"	""	""	"g.54121947_54121950del"	""	"pathogenic (dominant)"	"ACMG"
"0000759653"	"21"	"90"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Zhang 2016:27596865}"	""	"c.322+4_322+7delAGTG"	""	"Germline"	""	""	"0"	""	""	"g.54121947_54121950del"	""	"pathogenic (dominant)"	"ACMG"
"0000759654"	"0"	"90"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Zhang 2016:27596865}"	""	"c.322+4_322+7delAGTG"	""	"Germline"	""	""	"0"	""	""	"g.54121947_54121950del"	""	"pathogenic (dominant)"	"ACMG"
"0000759655"	"11"	"90"	"19"	"54621830"	"54621830"	"subst"	"0"	"00000"	"PRPF31_000114"	"g.54621830A>T"	""	"{PMID:Zhang 2016:27596865}"	""	"c.A172T"	""	"Germline"	""	""	"0"	""	""	"g.54118450A>T"	""	"pathogenic (dominant)"	"ACMG"
"0000759656"	"11"	"90"	"19"	"54629913"	"54629926"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54629913_54629926del"	""	"{PMID:Zhang 2016:27596865}"	""	"c.866_879delGGAAAGCGGCCCGG"	""	"Germline"	""	""	"0"	""	""	"g.54126538_54126551del"	""	"pathogenic (dominant)"	"ACMG"
"0000759895"	"1"	"70"	"19"	"54627148"	"54627180"	"dup"	"0"	"00000"	"PRPF31_000121"	"g.54627148_54627180dup"	""	"{PMID:Tiwari 2016:27391102}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123769_54123801dup"	""	"likely pathogenic (dominant)"	""
"0000760127"	"0"	"90"	"19"	"54626940"	"54626940"	"subst"	"0"	"00006"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Abdulridha-Aboud 2016:27212874}"	""	"IVS6+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000760163"	"0"	"50"	"19"	"54621779"	"54621779"	"subst"	"0"	"00000"	"PRPF31_000117"	"g.54621779C>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118399C>G"	""	"VUS"	""
"0000760242"	"0"	"50"	"19"	"54631496"	"54631496"	"subst"	"0"	"00000"	"PRPF31_000123"	"g.54631496C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128121C>T"	""	"VUS"	""
"0000760254"	"0"	"70"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123563A>G"	""	"likely pathogenic"	""
"0000760266"	"0"	"50"	"19"	"54625894"	"54625894"	"subst"	"0"	"00000"	"PRPF31_000118"	"g.54625894T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54122515T>A"	""	"VUS"	""
"0000760268"	"0"	"50"	"19"	"54625953"	"54625953"	"del"	"0"	"00000"	"PRPF31_000119"	"g.54625953del"	""	"{PMID:Ellingford 2016:27208204}"	""	"400delG"	""	"Germline"	""	""	"0"	""	""	"g.54122574del"	""	"VUS"	""
"0000760291"	"0"	"50"	"19"	"54629963"	"54629963"	"subst"	"0"	"00000"	"PRPF31_000029"	"g.54629963G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54126588G>A"	""	"VUS"	""
"0000760317"	"0"	"50"	"19"	"54631469"	"54631469"	"subst"	"0"	"00000"	"PRPF31_000122"	"g.54631469G>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128094G>T"	""	"VUS"	""
"0000760341"	"0"	"50"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128187C>T"	""	"VUS"	""
"0000764179"	"1"	"50"	"19"	"54627232"	"54627232"	"subst"	"9.34747E-5"	"02404"	"PRPF31_000045"	"g.54627232G>A"	""	"{PMID:Bahena 2021:34148116}"	""	""	""	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000764878"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2016:26766544}"	""	"del ex4-13"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000765507"	"1"	"90"	"19"	"54618847"	"54618847"	"del"	"0"	"00000"	"PRPF31_000126"	"g.54618847del"	"1/60 cases"	"{PMID:Coussa 2015:26720483}"	""	"54618847delC"	"not in 192 controls"	"Germline"	""	""	"0"	""	""	"g.54115467del"	""	"pathogenic (dominant)"	""
"0000765523"	"1"	"70"	"19"	"54629909"	"54629909"	"subst"	"8.27349E-6"	"00000"	"PRPF31_000128"	"g.54629909C>T"	"1/60 cases"	"{PMID:Coussa 2015:26720483}"	""	""	"not in 192 controls"	"Germline"	""	""	"0"	""	""	"g.54126534C>T"	""	"likely pathogenic (dominant)"	""
"0000765639"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Yang 2015:26496393}"	""	"1081+19del17bp"	"not in 100 controls"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000765640"	"0"	"70"	"19"	"54625945"	"54625945"	"dup"	"0"	"00000"	"PRPF31_000127"	"g.54625945dup"	""	"{PMID:Yang 2015:26496393}"	""	"393insA"	"not in 100 controls"	"Germline"	""	""	"0"	""	""	"g.54122566dup"	""	"likely pathogenic (dominant)"	""
"0000783262"	"1"	"90"	"19"	"54619134"	"54634248"	"del"	"0"	"00000"	"PRPF31_000129"	"g.(?_54619134)_(54634248_?)del"	""	"{PMID:Almoguera 2015:26197217}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000783280"	"0"	"70"	"19"	"54626832"	"54626832"	"subst"	"0"	"00000"	"PRPF31_000085"	"g.54626832G>A"	""	"{PMID:Yoon 2015:26155838}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123453G>A"	""	"likely pathogenic (dominant)"	""
"0000783286"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Yoon 2015:26155838}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic (dominant)"	""
"0000783287"	"0"	"70"	"19"	"54625310"	"54625310"	"subst"	"0"	"00000"	"PRPF31_000130"	"g.54625310G>A"	""	"{PMID:Yoon 2015:26155838}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54121931G>A"	""	"likely pathogenic (dominant)"	""
"0000784193"	"0"	"90"	"19"	"54627916"	"54627916"	"subst"	"2.0475E-5"	"00000"	"PRPF31_000132"	"g.54627916G>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54124537G>A"	""	"pathogenic (dominant)"	""
"0000785380"	"1"	"90"	"19"	"54621676"	"54621676"	"subst"	"0"	"00000"	"PRPF31_000131"	"g.54621676G>C"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54118296G>C"	""	"pathogenic (dominant)"	""
"0000785388"	"1"	"90"	"19"	"54627153"	"54627153"	"subst"	"0"	"00000"	"PRPF31_000001"	"g.54627153G>T"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123774G>T"	""	"pathogenic (dominant)"	""
"0000785524"	"0"	"90"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	""	"{PMID:Fernandez-San Jose 2015:25698705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128379T>C"	""	"pathogenic (dominant)"	""
"0000785526"	"0"	"90"	"19"	"54629986"	"54629986"	"dup"	"0"	"00000"	"PRPF31_000133"	"g.54629986dup"	""	"{PMID:Fernandez-San Jose 2015:25698705}"	""	"c.937_938insA"	""	"Germline"	""	""	"0"	""	""	"g.54126611dup"	""	"pathogenic (dominant)"	""
"0000786338"	"1"	"90"	"19"	"54627952"	"54627953"	"delins"	"0"	"00000"	"PRPF31_000135"	"g.54627952_54627953delinsCAACATGCAACATCAT"	""	"{PMID:Zhao 2015:25472526}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54124573_54124574delinsCAACATGCAACATCAT"	""	"pathogenic"	""
"0000787641"	"1"	"70"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54126582C>T"	""	"likely pathogenic"	""
"0000787647"	"1"	"70"	"19"	"54627231"	"54627231"	"del"	"0"	"00000"	"PRPF31_000136"	"g.54627231del"	""	"{PMID:Huang 2015:25356976}"	""	"629delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.54123852del"	""	"likely pathogenic"	""
"0000787649"	"1"	"70"	"19"	"54632676"	"54632676"	"subst"	"0"	"00000"	"PRPF31_000137"	"g.54632676T>A"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54129301T>A"	""	"likely pathogenic"	""
"0000788107"	"1"	"90"	"19"	"54627215"	"54627215"	"subst"	"0"	"00000"	"PRPF31_000140"	"g.54627215C>G"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123836C>G"	""	"pathogenic"	""
"0000788108"	"1"	"90"	"19"	"54627162"	"54627162"	"subst"	"0"	"00000"	"PRPF31_000139"	"g.54627162G>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54123783G>T"	""	"pathogenic"	""
"0000788143"	"1"	"70"	"19"	"54627944"	"54627944"	"subst"	"0"	"00000"	"PRPF31_000141"	"g.54627944A>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54124565A>T"	""	"likely pathogenic"	""
"0000788537"	"1"	"90"	"19"	"54621976"	"54621976"	"del"	"0"	"00000"	"PRPF31_000138"	"g.54621976del"	""	"{PMID:Watson 2014:25133751}"	""	"201delT"	""	"Germline"	""	""	"0"	""	""	"g.54118596del"	""	"pathogenic"	""
"0000788538"	"1"	"70"	"19"	"54631707"	"54631707"	"del"	"0"	"00000"	"PRPF31_000142"	"g.54631707del"	""	"{PMID:Pan 2014:24940031}"	""	"1098delG"	""	"Germline"	""	""	"0"	""	""	"g.54128332del"	""	"likely pathogenic"	""
"0000789705"	"0"	"90"	"19"	"54627270"	"54627270"	"subst"	"1.62619E-5"	"00000"	"PRPF31_000143"	"g.54627270G>A"	""	"{PMID:Jin 2008:18310263}"	""	"RP11: c.670G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790102"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790104"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790106"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790108"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790110"	"3"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790112"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790114"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790116"	"0"	"90"	"19"	"54627965"	"54627965"	"del"	"0"	"00000"	"PRPF31_000149"	"g.54627965delT"	""	"{PMID:Lim-2009:19506198}"	""	"c.785delT (p.Phe262SerfsX59)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790118"	"0"	"10"	"19"	"54621663"	"54621663"	"subst"	"0"	"00000"	"PRPF31_000145"	"g.54621663C>G"	""	"{PMID:Lim-2009:19506198}"	""	"c.5C G"	""	"Unknown"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000790119"	"0"	"10"	"19"	"54621796"	"54621796"	"subst"	"0.000265957"	"00000"	"PRPF31_000146"	"g.54621796T>C"	""	"{PMID:Lim-2009:19506198}"	""	"c.138T C"	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000790120"	"0"	"10"	"19"	"54627326"	"54627327"	"ins"	"0"	"00000"	"PRPF31_000147"	"g.54627326_54627327insC"	""	"{PMID:Lim-2009:19506198}"	""	"c.697 + 29_30insC"	""	"Unknown"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000790121"	"0"	"10"	"19"	"54627915"	"54627915"	"subst"	"0.084407"	"00000"	"PRPF31_000148"	"g.54627915C>T"	""	"{PMID:Lim-2009:19506198}"	""	"c.735C T"	""	"Unknown"	""	"rs11556769"	"0"	""	""	""	""	"benign"	""
"0000790122"	"0"	"10"	"19"	"54628075"	"54628075"	"subst"	"0.0844259"	"00000"	"PRPF31_000150"	"g.54628075G>A"	""	"{PMID:Lim-2009:19506198}"	""	"c.855 + 40G A"	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000790123"	"0"	"10"	"19"	"54631642"	"54631642"	"subst"	"1.98947E-5"	"00000"	"PRPF31_000151"	"g.54631642A>G"	""	"{PMID:Lim-2009:19506198}"	""	"c.1074-38A G"	""	"Unknown"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000790124"	"0"	"10"	"19"	"54631645"	"54631645"	"subst"	"0.000761066"	"00000"	"PRPF31_000152"	"g.54631645C>T"	""	"{PMID:Lim-2009:19506198}"	""	"c.1074-35C T"	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000790125"	"0"	"10"	"19"	"54631704"	"54631704"	"subst"	"0.00092688"	"00000"	"PRPF31_000049"	"g.54631704G>C"	""	"{PMID:Lim-2009:19506198}"	""	"c.1098G C"	""	"Unknown"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000790126"	"0"	"10"	"19"	"54632501"	"54632501"	"subst"	"3.15014E-5"	"00000"	"PRPF31_000153"	"g.54632501C>T"	""	"{PMID:Lim-2009:19506198}"	""	"c.1216C T"	""	"Unknown"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000790127"	"0"	"10"	"19"	"54632515"	"54632515"	"subst"	"0.00382166"	"00000"	"PRPF31_000154"	"g.54632515A>G"	""	"{PMID:Lim-2009:19506198}"	""	"c.1230A G"	""	"Unknown"	""	"rs34154455"	"0"	""	""	""	""	"benign"	""
"0000790128"	"0"	"10"	"19"	"54635035"	"54635035"	"subst"	"0"	"00000"	"PRPF31_000155"	"g.54635035C>T"	""	"{PMID:Lim-2009:19506198}"	""	"c.*172C T"	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000790678"	"1"	"90"	"19"	""	""	""	""	"00000"	"PRPF31_000144"	"g.54631447G>?"	""	"{PMID:Daiger 2014:24664689}"	""	"c.946-1G>?"	""	"Germline"	""	""	"0"	""	""	"g.54128072G>?"	""	"pathogenic (dominant)"	""
"0000790687"	"1"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Daiger 2014:24664689}"	""	"c.946-1G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000790689"	"1"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Daiger 2014:24664689}"	""	"PRPF31 Gly272Va"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000790936"	"0"	"90"	"19"	"54618790"	"54631753"	"del"	"0"	"00000"	"PRPF31_000274"	"g.(?_54618790)_(54631753_54632431)del"	"0/20 simplex RP cases or 0/94 healthy controls"	"{PMID:Golovleva-2010:20238024}, {PMID:Köhn 2009:19050727}"	""	"59 kb genomic deletion including the PRPF31"	"novel genomic deletion including almost the entire PRPF31 linked to 19q13.42 (breakpoints in intron 11 of the PRPF31 gene and in LOC441864 (ref|NT_011109.15|Hs19_11266)); variant shows an inheritance pattern with incomplete penetrance"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (!)"	""
"0000790937"	"0"	"90"	"19"	"54618790"	"54631753"	"del"	"0"	"00000"	"PRPF31_000274"	"g.(?_54618790)_(54631753_54632431)del"	"0/20 simplex RP cases or 0/94 healthy controls"	"{PMID:Golovleva-2010:20238024}, {PMID:Köhn 2009:19050727}"	""	"59 kb genomic deletion including the PRPF31"	"novel genomic deletion including almost the entire PRPF31 linked to 19q13.42 (breakpoints in intron 11 of the PRPF31 gene and in LOC441864 (ref|NT_011109.15|Hs19_11266)); variant shows an inheritance pattern with incomplete penetrance"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (!)"	""
"0000791126"	"10"	"90"	"19"	"54631542"	"54631542"	"del"	"0"	"00000"	"PRPF31_000157"	"g.54631542del"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54128167del"	""	"pathogenic"	"ACMG"
"0000791127"	"10"	"90"	"19"	"54631542"	"54631542"	"del"	"0"	"00000"	"PRPF31_000157"	"g.54631542del"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54128167del"	""	"pathogenic"	"ACMG"
"0000791448"	"0"	"70"	"19"	"54621713"	"54621713"	"del"	"0"	"00000"	"PRPF31_000160"	"g.54621713del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54118333del"	""	"likely pathogenic"	""
"0000791449"	"0"	"70"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54121947_54121950del"	""	"likely pathogenic"	""
"0000791450"	"0"	"70"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54121947_54121950del"	""	"likely pathogenic"	""
"0000791451"	"0"	"70"	"19"	"54625881"	"54625883"	"del"	"0"	"00000"	"PRPF31_000161"	"g.54625881_54625883del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54122502_54122504del"	""	"likely pathogenic"	""
"0000791452"	"0"	"70"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54123561G>T"	""	"likely pathogenic"	""
"0000791453"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54123762G>T"	""	"likely pathogenic"	""
"0000791454"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54123762G>T"	""	"likely pathogenic"	""
"0000791455"	"0"	"70"	"19"	"54627916"	"54627916"	"subst"	"2.0475E-5"	"00000"	"PRPF31_000132"	"g.54627916G>A"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54124537G>A"	""	"likely pathogenic"	""
"0000791456"	"0"	"70"	"19"	"54627950"	"54627950"	"dup"	"0"	"00000"	"PRPF31_000073"	"g.54627950dup"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54124571dup"	""	"likely pathogenic"	""
"0000791457"	"0"	"70"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54124629_54124630del"	""	"likely pathogenic"	""
"0000791458"	"0"	"70"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54126567T>C"	""	"likely pathogenic"	""
"0000791459"	"0"	"70"	"19"	"54629986"	"54629986"	"dup"	"0"	"00000"	"PRPF31_000133"	"g.54629986dup"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54126611dup"	""	"likely pathogenic"	""
"0000791460"	"0"	"70"	"19"	"54631679"	"54631679"	"subst"	"0"	"00000"	"PRPF31_000163"	"g.54631679G>T"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54128304G>T"	""	"likely pathogenic"	""
"0000791461"	"0"	"70"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54128379T>C"	""	"likely pathogenic"	""
"0000791462"	"0"	"70"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000164"	"g.54631754T>A"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54128379T>A"	""	"likely pathogenic"	""
"0000791463"	"0"	"70"	"19"	"54634825"	"54634835"	"del"	"0"	"00000"	"PRPF31_000165"	"g.54634825_54634835del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54131394_54131404del"	""	"likely pathogenic"	""
"0000791557"	"0"	"70"	"19"	"54602946"	"54635178"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54602946_54635178del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	"deletion encompassing OSCAR (exon 1-2), NDUFA3, TFPT, PRPF31"	"Germline"	"?"	""	"0"	""	""	"g.54099655_54131887del"	""	"likely pathogenic"	""
"0000791558"	"0"	"70"	"19"	"54602946"	"54632693"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54602946_54632693del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	"deletion encompassing OSCAR (exon 1-2), NDUFA3, TFPT, PRPF31"	"Germline"	"?"	""	"0"	""	""	"g.54099655_54129402del"	""	"likely pathogenic"	""
"0000791559"	"0"	"70"	"19"	"54621606"	"54626745"	"dup"	"0"	"00000"	"PRPF31_000159"	"g.54621606_54626745dup"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54118226_54123366dup"	""	"likely pathogenic"	""
"0000791560"	"0"	"70"	"19"	"54618828"	"54619055"	"del"	"0"	"00000"	"PRPF31_000158"	"g.54618828_54619055del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54115448_54115675del"	""	"likely pathogenic"	""
"0000791561"	"0"	"70"	"19"	"54629904"	"54629993"	"del"	"0"	"00000"	"PRPF31_000162"	"g.54629904_54629993del"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.54126529_54126618del"	""	"likely pathogenic"	""
"0000791919"	"0"	"90"	"19"	"54631447"	"54631447"	"subst"	"0"	"00000"	"PRPF31_000171"	"g.54631447G>C"	""	"{PMID:Bowne 2011:20861475}"	""	"c.946–1"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791922"	"0"	"10"	"19"	"54627236"	"54627236"	"del"	"0"	"00000"	"PRPF31_000004"	"g.54627236del"	"12.9%"	"{PMID:Bowne 2011:20861475}"	""	"c.del636"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792226"	"3"	"50"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Tanackovic 2011:21378395}"	""	"p.R293"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792227"	"3"	"50"	"19"	"54629901"	"54629901"	"subst"	"0"	"00000"	"PRPF31_000170"	"g.54629901A>G"	""	"{PMID:Tanackovic 2011:21378395}"	""	"IVS8-2A>G"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792228"	"3"	"50"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Tanackovic 2011:21378395}"	""	"p.R372"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792229"	"3"	"50"	"19"	"54621836"	"54621836"	"del"	"0"	"00000"	"PRPF31_000166"	"g.54621836delG"	""	"{PMID:Tanackovic 2011:21378395}"	""	"IVS2+1delG"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792230"	"3"	"50"	"19"	"54625874"	"54625874"	"subst"	"0"	"00000"	"PRPF31_000168"	"g.54625874A>G"	""	"{PMID:Tanackovic 2011:21378395}"	""	"IVS4-2A>G"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792231"	"3"	"50"	"19"	"54629901"	"54629901"	"subst"	"0"	"00000"	"PRPF31_000170"	"g.54629901A>G"	""	"{PMID:Tanackovic 2011:21378395}"	""	"IVS8-2A>G"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792232"	"3"	"50"	"19"	"54625319"	"54625319"	"subst"	"0"	"00000"	"PRPF31_000167"	"g.54625319C>G"	""	"{PMID:Tanackovic 2011:21378395}"	""	"p.L107V"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792240"	"0"	"90"	"19"	"54627266"	"54627266"	"dup"	"0"	"00000"	"PRPF31_000169"	"g.54627266dup"	""	"{PMID:_Audo-2012:22277662}"	""	"c.666dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793686"	"0"	"70"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Chakarova-2006:16917484}"	""	"IVS6+1G>T (G176fsX186)"	"also in three subjects, who appear to be asymptomatic"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (!)"	""
"0000793907"	"0"	"70"	"19"	"54632558"	"54632558"	"subst"	"0"	"00000"	"PRPF31_000172"	"g.54632558C>T"	""	"{PMID:Foote-2019:10480356}"	""	"c.1273C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794013"	"0"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Blanco-Kelly-2012:22736939}"	""	"p.Cys299Arg"	""	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000794014"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Blanco-Kelly-2012:22736939}"	""	"p.Thr494Met"	""	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000794357"	"0"	"70"	"19"	"54625320"	"54625320"	"subst"	"0"	"00000"	"PRPF31_000173"	"g.54625320T>C"	""	"{PMID:Wang 2018:30029497}"	""	"NM_015629.3:c.320T>C, NP_056444.3:p.(Leu107Pro), NC_000019.9:g.54625320T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.54121941T>C"	""	"likely pathogenic"	"ACMG"
"0000794358"	"0"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_015629.3:c.1060C>T, NP_056444.3:p.(Arg354Ter), NC_000019.9:g.54631562C>T"	""	"Germline"	"?"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	"ACMG"
"0000794359"	"0"	"70"	"19"	"54627965"	"54627965"	"subst"	"0"	"00000"	"PRPF31_000175"	"g.54627965T>C"	""	"{PMID:Wang 2018:30029497}"	""	"NM_015629.3:c.785T>C, NP_056444.3:p.(Phe262Ser), NC_000019.9:g.54627965T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.54124586T>C"	""	"likely pathogenic"	"ACMG"
"0000794823"	"0"	"50"	"19"	"54632450"	"54632450"	"subst"	"0"	"00000"	"PRPF31_000176"	"g.54632450C>T"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_015629, c.1165C>T, p.Gln389Ter"	""	"Germline"	"?"	""	"0"	""	""	"g.54129075C>T"	""	"VUS"	""
"0000794844"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_015629, exons9_13deletion,"	""	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000794845"	"21"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_015629, exons9_13deletion,"	""	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000794893"	"0"	"70"	"19"	"54626832"	"54634864"	"dup"	"0"	"03508"	"PRPF31_000174"	"g.(54625974_54626832)_(54634864_?)dup"	""	""	""	"421-?_1500+?dup"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(54122595_54123453)_(54131433_?)dup"	""	"VUS"	"ACMG"
"0000795712"	"0"	"70"	"19"	"54625323"	"54625323"	"subst"	"0"	"00000"	"PRPF31_000177"	"g.54625323G>A"	""	"{PMID:Wu 2018:30360737}"	""	"c.322+1G>A"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.54121944G>A"	""	"likely pathogenic"	""
"0000795713"	"0"	"70"	"19"	"54626941"	"54626941"	"subst"	"0"	"00000"	"PRPF31_000180"	"g.54626941T>G"	""	"{PMID:Wu 2018:30360737}"	""	"c.527+2T>G"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.54123562T>G"	""	"likely pathogenic"	""
"0000795714"	"0"	"70"	"19"	"54627190"	"54627190"	"subst"	"0"	"00000"	"PRPF31_000086"	"g.54627190T>C"	""	"{PMID:Wu 2018:30360737}"	""	"c.590T>C, (p.Leu197Pro)"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.54123811T>C"	""	"likely pathogenic"	""
"0000795715"	"0"	"70"	"19"	"54631537"	"54631538"	"ins"	"0"	"00000"	"PRPF31_000181"	"g.54631537_54631538insGC"	""	"{PMID:Wu 2018:30360737}"	""	"c.1035_1036insGC, (p.Pro346Argfs X18)"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.54128162_54128163insGC"	""	"likely pathogenic"	""
"0000795716"	"0"	"70"	"19"	"54632509"	"54632509"	"dup"	"0"	"00000"	"PRPF31_000182"	"g.54632509dup"	""	"{PMID:Wu 2018:30360737}"	""	"c.1224dup, (p.Gln409AlafsX66)"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.54129134dup"	""	"likely pathogenic"	""
"0000795717"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Wu 2018:30360737}"	""	"c.1060C>T, (p.Arg354X)]"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic"	""
"0000795939"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Schorderet-2013:23484092}"	""	"p.PRPF31-E183_ins33bp"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000796071"	"0"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912delAA"	""	"{PMID:Gandra-2008:18552984}"	""	"c.358_359 del AA"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796072"	"0"	"90"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000179"	"g.54626940G>A"	""	"{PMID:Gandra-2008:18552984}"	""	"IVS6+1G/A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796273"	"0"	"90"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.220C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796691"	"0"	"90"	"19"	"54631550"	"54631550"	"subst"	"0"	"00000"	"PRPF31_000191"	"g.54631550C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1048C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796693"	"0"	"90"	"19"	"54631569"	"54631583"	"del"	"0"	"00000"	"PRPF31_000192"	"g.54631569_54631583del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1067_1073+8del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796718"	"0"	"90"	"19"	"54621992"	"54621992"	"subst"	"0"	"00000"	"PRPF31_000087"	"g.54621992A>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.217A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796818"	"0"	"90"	"19"	"54618789"	"54635151"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54618789_54635151del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"Deletion of exons 1–14"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796824"	"0"	"90"	"19"	"54618789"	"54625974"	"del"	"0"	"00000"	"PRPF31_000183"	"g.54618789_54625974del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"Deletion of exons 1–5"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796850"	"0"	"70"	"19"	"54628038"	"54628038"	"subst"	"0"	"00000"	"PRPF31_000189"	"g.54628038G>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.855+3G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796874"	"0"	"90"	"19"	"54627236"	"54627236"	"del"	"0"	"00000"	"PRPF31_000004"	"g.54627236del"	""	"{PMID:Wang-2014:24154662}"	""	"c.636delG"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796888"	"0"	"90"	"19"	"54627943"	"54627943"	"subst"	"0"	"00000"	"PRPF31_000005"	"g.54627943C>T"	""	"{PMID:Wang-2014:24154662}"	""	"c.763C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796891"	"0"	"90"	"19"	"54627216"	"54627216"	"subst"	"0"	"00000"	"PRPF31_000003"	"g.54627216G>T"	""	"{PMID:Wang-2014:24154662}"	""	"c.616G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796961"	"0"	"70"	"19"	"54621656"	"54621665"	"del"	"0"	"00000"	"PRPF31_000184"	"g.54621656_54621665del"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.-3_7del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796962"	"0"	"70"	"19"	"54621677"	"54621678"	"ins"	"0"	"00000"	"PRPF31_000185"	"g.54621677_54621678insA"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.19_20insA"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796963"	"0"	"70"	"19"	"54625267"	"54625267"	"del"	"0"	"00000"	"PRPF31_000186"	"g.54625267del"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.267delA"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796964"	"0"	"70"	"19"	"54627089"	"54627131"	"del"	"0"	"00000"	"PRPF31_000187"	"g.54627089_54627131del"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.528-39_531del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796965"	"0"	"70"	"19"	"54627988"	"54627989"	"ins"	"0"	"00000"	"PRPF31_000188"	"g.54627988_54627989insC"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.808_809insC"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796966"	"0"	"70"	"19"	"54629962"	"54629963"	"ins"	"0"	"00000"	"PRPF31_000190"	"g.54629962_54629963insTGT"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.915_916insTGT"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796967"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.1060C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796968"	"0"	"70"	"19"	"54631690"	"54631690"	"del"	"0"	"00000"	"PRPF31_000193"	"g.54631690del"	""	"{PMID:Sullivan-2013:23950152}"	""	"c.1084delA"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797104"	"0"	"70"	"19"	"54628019"	"54628019"	"subst"	"0"	"00000"	"PRPF31_000200"	"g.54628019T>G"	""	"{PMID:Birtel 2018:30543658}"	""	"c.839T>G, p.Val280Gly"	"Heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124640T>G"	""	"likely pathogenic"	"ACMG"
"0000797105"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Birtel 2018:30543658}"	""	"deletion of exons 1-3"	"Heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000797106"	"0"	"90"	"19"	"54627877"	"54627877"	"subst"	"0"	"00000"	"PRPF31_000083"	"g.54627877G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.698-1G>A, Splice"	"Heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54124498G>A"	""	"pathogenic"	"ACMG"
"0000797107"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Birtel 2018:30543658}"	""	"deletion of exons 1-5"	"Heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000797108"	"0"	"70"	"19"	"54627996"	"54628010"	"del"	"0"	"00000"	"PRPF31_000199"	"g.54627996_54628010del"	""	"{PMID:Birtel 2018:30543658}"	""	"c.816_830delCTACATCTACCACAG, p.Tyr273_Ser277del"	"Heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54124617_54124631del"	""	"likely pathogenic"	"ACMG"
"0000797109"	"0"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Birtel 2018:30543658}"	""	"c.527+3A>G, IVS6+3A>G"	"Heterozygous"	"Germline"	"?"	"rs587776590"	"0"	""	""	"g.54123563A>G"	""	"pathogenic"	"ACMG"
"0000797110"	"0"	"70"	"19"	"54625883"	"54625886"	"del"	"0"	"00000"	"PRPF31_000194"	"g.54625883_54625886del"	""	"{PMID:Birtel 2018:30543658}"	""	"c.330_333delCCAT, p.His111Serfs*86"	"Heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54122504_54122507del"	""	"likely pathogenic"	"ACMG"
"0000797111"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Birtel 2018:30543658}"	""	"deletion of exons 1-5,"	"Heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000797736"	"0"	"70"	"19"	"54631463"	"54631463"	"subst"	"0"	"00000"	"PRPF31_000202"	"g.54631463A>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.961A>T, p.(Lys321*), ELOVL4 c.1A>G, p.(Met1?)"	""	"Germline"	"?"	""	"0"	""	""	"g.54128088A>T"	""	"likely pathogenic"	"ACMG"
"0000797738"	"0"	"70"	"19"	"54627273"	"54627273"	"del"	"0"	"00000"	"PRPF31_000198"	"g.54627273del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.673del, p.(Ala225Hisfs*14)"	""	"Germline"	"?"	""	"0"	""	""	"g.54123894del"	""	"likely pathogenic"	"ACMG"
"0000797739"	"0"	"70"	"19"	"54632519"	"54632519"	"del"	"0"	"00000"	"PRPF31_000204"	"g.54632519del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.1234del, p.(Val412*)"	""	"Germline"	"?"	""	"0"	""	""	"g.54129144del"	""	"likely pathogenic"	"ACMG"
"0000797740"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.(?_-1) _(*1_?)del"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000797741"	"0"	"70"	"19"	"54632475"	"54632475"	"dup"	"0"	"00000"	"PRPF31_000116"	"g.54632475dup"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.1190dup, p.(His398Profs*77)"	""	"Germline"	"?"	""	"0"	""	""	"g.54129100dup"	""	"likely pathogenic"	"ACMG"
"0000797743"	"0"	"90"	"19"	"54631499"	"54631499"	"del"	"0"	"00000"	"PRPF31_000203"	"g.54631499del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.997del, p.(Glu333Serfs*5), USH1Cc.2014-1G>A, p.(?), c.2129T>C, p."	""	"Germline"	"?"	""	"0"	""	""	"g.54128124del"	""	"pathogenic"	"ACMG"
"0000797745"	"0"	"70"	"19"	"54626831"	"54626831"	"subst"	"0"	"00000"	"PRPF31_000196"	"g.54626831A>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.421-2A>G, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.54123452A>G"	""	"likely pathogenic"	"ACMG"
"0000797746"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.(238+1_239-1)_(420+1_421-1)dup"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000797747"	"0"	"70"	"19"	"54627266"	"54627268"	"del"	"0"	"00000"	"PRPF31_000197"	"g.54627266_54627268del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.666_668del, p.(Ile223del)"	""	"Germline"	"?"	""	"0"	""	""	"g.54123887_54123889del"	""	"likely pathogenic"	"ACMG"
"0000797748"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.(?_-1) _(*1_?)del"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000797753"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.(?_-1) _(238+1_239-1)del, IMPDH1 c.(?_-1) _(*1_?)del"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000797764"	"0"	"70"	"19"	"54628036"	"54628036"	"subst"	"0"	"00000"	"PRPF31_000201"	"g.54628036G>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.855+1G>T, p.(?), ABCA4 c.2588G>C, p.(Gly863Ala), c.317A>T, p.(Tyr106Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.54124657G>T"	""	"likely pathogenic"	"ACMG"
"0000798050"	"0"	"50"	"19"	"54632707"	"54632707"	"subst"	"0"	"00000"	"PRPF31_000205"	"g.54632707T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.1336T>C, p.(Ser446Pro), TRPM1 c.215A>G, p.(Tyr72Cys)"	""	"Germline"	"?"	""	"0"	""	""	"g.54129332T>C"	""	"VUS"	"ACMG"
"0000798051"	"0"	"50"	"19"	"54625926"	"54625926"	"subst"	"8.1211E-6"	"00000"	"PRPF31_000195"	"g.54625926C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.373C>G, p.(Leu125Val), c.1073+5G>A, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.54122547C>G"	""	"VUS"	"ACMG"
"0000798052"	"0"	"50"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"00000"	"PRPF31_000019"	"g.54631580G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.373C>G, p.(Leu125Val), c.1073+5G>A, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.54128205G>A"	""	"VUS"	"ACMG"
"0000798053"	"0"	"50"	"19"	"54632507"	"54632507"	"subst"	"1.05254E-5"	"00000"	"PRPF31_000096"	"g.54632507C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.1222C>T, p.(Arg408Trp), c.1222C>T, p.(Arg408Trp)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.54129132C>T"	""	"VUS"	"ACMG"
"0000809045"	"0"	"50"	"19"	"54629964"	"54629964"	"subst"	"0"	"02327"	"PRPF31_000017"	"g.54629964A>C"	""	""	""	"PRPF31(NM_015629.4):c.917A>C (p.D306A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810859"	"0"	"50"	"19"	"54625437"	"54625437"	"subst"	"0"	"00000"	"PRPF31_000208"	"g.54625437T>G"	"0.09"	"{PMID:Anasagasti-2013:24416769}"	""	"c.322+115T>G"	""	"Germline"	"yes"	"rs73062632"	"0"	""	""	""	""	"VUS"	""
"0000810862"	"0"	"30"	"19"	"54625846"	"54625846"	"subst"	"2.03052E-5"	"00000"	"PRPF31_000209"	"g.54625846C>G"	""	"{PMID:Anasagasti-2013:24416769}"	""	"c.323-30C>G"	""	"Germline"	"yes"	"rs35315983"	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810866"	"0"	"50"	"19"	"54625437"	"54625437"	"subst"	"0"	"00000"	"PRPF31_000208"	"g.54625437T>G"	"0.09"	"{PMID:Anasagasti-2013:24416769}"	""	"c.322+115T>G"	""	"Germline"	"yes"	"rs73062632"	"0"	""	""	""	""	"VUS"	""
"0000810868"	"0"	"10"	"19"	"54619161"	"54619161"	"subst"	"0"	"00000"	"PRPF31_000206"	"g.54619161A>G"	"0.21"	"{PMID:Anasagasti-2013:24416769}"	""	"c.-39+14A>G"	""	"Germline"	"yes"	"rs4806711"	"0"	""	""	""	""	"benign (dominant)"	""
"0000810889"	"0"	"50"	"19"	"54621969"	"54621969"	"subst"	"0.000203029"	"00000"	"PRPF31_000207"	"g.54621969T>A"	""	"{PMID:Anasagasti-2013:24416769}"	""	"p.Met65Lys"	""	"Germline"	"yes"	"rs145505952"	"0"	""	""	""	""	"VUS"	""
"0000810912"	"3"	"10"	"19"	"54619161"	"54619161"	"subst"	"0"	"00000"	"PRPF31_000206"	"g.54619161A>G"	"0.21"	"{PMID:Anasagasti-2013:24416769}"	""	"c.-39+14A>G"	""	"Germline"	"yes"	"rs4806711"	"0"	""	""	""	""	"benign (dominant)"	""
"0000810919"	"0"	"30"	"19"	"54635015"	"54635015"	"subst"	"0"	"00000"	"PRPF31_000211"	"g.54635015G>A"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"c.*231G>A"	""	"Germline"	"yes"	"rs192573566"	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810922"	"0"	"50"	"19"	"54619163"	"54619163"	"subst"	"0"	"00000"	"PRPF31_000354"	"g.54619163G>T"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.54619163G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""
"0000810928"	"0"	"70"	"19"	"54626833"	"54626833"	"subst"	"0"	"00000"	"PRPF31_000210"	"g.54626833G>A"	""	"{PMID:Anasagasti-2013:24416769}"	""	"c.422-1G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000811903"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Hariri 2018:31047384}"	""	"whole gene heterozygous deletion detected by comparative genomic hybridization"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000811904"	"0"	"70"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Arg304Cys:c.910C/T (heterozygous)"	""	"Germline"	"?"	""	"0"	""	""	"g.54126582C>T"	""	"likely pathogenic"	""
"0000811905"	"0"	"70"	"19"	"54625912"	"54625912"	"dup"	"0"	"00000"	"PRPF31_000212"	"g.54625912dup"	""	"{PMID:Hariri 2018:31047384}"	""	"c.359dupA (heterozygous)"	""	"Germline"	"?"	""	"0"	""	""	"g.54122533dup"	""	"likely pathogenic"	""
"0000812769"	"0"	"90"	"19"	"54629924"	"54629924"	"del"	"0"	"00000"	"PRPF31_000213"	"g.54629924del"	""	"{PMID:Wang 2019:31106028}"	""	"c.877del, p.(Arg293Glyfs*28)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126549del"	""	"pathogenic"	""
"0000813017"	"0"	"70"	"19"	"54631714"	"54631714"	"subst"	"0"	"00000"	"PRPF31_000069"	"g.54631714G>T"	""	"{PMID:Ehrenberg 2019:31814694}"	""	"PRPF31 (NM_015629; OMIM: 606419): c.1108G>T; p.Glu370* (het) (RP), ?/(HL)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128339G>T"	""	"likely pathogenic"	""
"0000813825"	"3"	"70"	"19"	"68679654"	"68679654"	"subst"	"0"	"00000"	"PRPF31_000214"	"g.68679654G>A"	""	"{PMID:Shakhmantsir 2020:31726916}"	""	"c.160+1G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.68645751G>A"	""	"likely pathogenic"	""
"0000813826"	"3"	"70"	"19"	"68679654"	"68679654"	"subst"	"0"	"00000"	"PRPF31_000214"	"g.68679654G>A"	""	"{PMID:Shakhmantsir 2020:31726916}"	""	"c.160+1G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.68645751G>A"	""	"likely pathogenic"	""
"0000813827"	"3"	"70"	"19"	"68679654"	"68679654"	"subst"	"0"	"00000"	"PRPF31_000214"	"g.68679654G>A"	""	"{PMID:Shakhmantsir 2020:31726916}"	""	"c.160+1G>A"	"Heterozygous deletion in PRPF31 exon 1 and 5′ (putative promoter) regi"	"Germline"	"?"	""	"0"	""	""	"g.68645751G>A"	""	"likely pathogenic"	""
"0000814778"	"0"	"90"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Dan 2020:31960602}"	""	"PRPF31 c.220C>T, p.(Gln74*)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54118615C>T"	""	"pathogenic"	"ACMG"
"0000814929"	"1"	"70"	"19"	"54577171"	"54630008"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54577171_54630008del"	""	"{PMID:Cho 2020:32000842}"	""	"chr19:54577171_54630008del"	"Heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54073923_54126760del"	""	"likely pathogenic (dominant)"	""
"0000815327"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PRPF31:NM_015629 ex. 10-11 del, p.?"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000815328"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"Deletion ex. 10-11"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000815329"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"Deletion ex. 10-11"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000815334"	"0"	"90"	"19"	"54634825"	"54634835"	"del"	"0"	"00000"	"PRPF31_000165"	"g.54634825_54634835del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PRPF31:NM_015629 c.1462_1472del, p.K488Rfs*74"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.54131394_54131404del"	""	"pathogenic"	"ACMG"
"0000815371"	"0"	"90"	"19"	"54634825"	"54634835"	"del"	"0"	"00000"	"PRPF31_000165"	"g.54634825_54634835del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PRPF31:NM_015629 c.1462_1472del, p.K488Rfs*74"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.54131394_54131404del"	""	"pathogenic"	"ACMG"
"0000815576"	"0"	"50"	"19"	"54621957"	"54621957"	"subst"	"2.03044E-5"	"00000"	"PRPF31_000215"	"g.54621957C>G"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PRPF31:NM_015629 c.C182G, p.A61G"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.54118577C>G"	""	"VUS"	"ACMG"
"0000815931"	"0"	"70"	"19"	"54600232"	"54637087"	"del"	"0"	"00000"	"PRPF31_000125"	"g.54600232_54637087del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr19:54600232_54637087del"	"deletion incl. OSCAR, NDUFA3, TFPT, PRPF31"	"Germline"	"?"	""	"0"	""	""	"g.54096852_54133656del"	""	"likely pathogenic"	""
"0000815945"	"0"	"70"	"19"	"54600232"	"54627915"	"del"	"0"	"00000"	"PRPF31_000345"	"g.54600232_54627915del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr19:54600232_54627915del"	"OSCAR, NDUFA3, TFPT, PRPF31"	"Unknown"	"?"	""	"0"	""	""	"g.54096852_54124536del"	""	"likely pathogenic"	""
"0000815947"	"0"	"50"	"19"	"54632502"	"54632502"	"subst"	"0"	"00000"	"PRPF31_000229"	"g.54632502G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.1217G>A, p.Arg406His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54129127G>A"	""	"VUS"	""
"0000815952"	"0"	"50"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.910C>T, p.Arg304Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54126582C>T"	""	"VUS"	""
"0000815967"	"0"	"50"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.910C>T, p.Arg304Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54126582C>T"	""	"VUS"	""
"0000815978"	"0"	"70"	"19"	"54625437"	"54637087"	"del"	"0"	"00000"	"PRPF31_000342"	"g.54625437_54637087del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"hr19:54625437-54637087"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54122058_54133656del"	""	"likely pathogenic"	""
"0000815990"	"0"	"70"	"19"	"54621776"	"54621776"	"subst"	"0"	"00000"	"PRPF31_000218"	"g.54621776C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.118C>T, p.Gln40Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54118396C>T"	""	"likely pathogenic"	""
"0000816002"	"0"	"70"	"19"	"54627943"	"54627943"	"subst"	"0"	"00000"	"PRPF31_000005"	"g.54627943C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.763C>T, p.Gln255Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54124564C>T"	""	"likely pathogenic"	""
"0000816034"	"0"	"70"	"19"	"54610320"	"54619055"	"del"	"0"	"00000"	"PRPF31_000217"	"g.54610320_54619055del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 chr19:54610320_54619055del"	"NDUFA3, TFPT, PRPF31 partial promoter deletion, range 13203-16857 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54115410_54115675del"	""	"likely pathogenic"	""
"0000816040"	"0"	"70"	"19"	"54625943"	"54625943"	"del"	"0"	"00000"	"PRPF31_000101"	"g.54625943del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.390del, p.Asn131MetfsTer67"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122564del"	""	"likely pathogenic"	""
"0000816071"	"0"	"70"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.322+4_322+7del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54121947_54121950del"	""	"likely pathogenic"	""
"0000816081"	"0"	"50"	"19"	"54627232"	"54627232"	"subst"	"9.34747E-5"	"00000"	"PRPF31_000045"	"g.54627232G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.632G>A, p.Arg211Gln"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123853G>A"	""	"VUS"	""
"0000816082"	"0"	"70"	"19"	"54600232"	"54637087"	"del"	"0"	"00000"	"PRPF31_000125"	"g.54600232_54637087del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr19:54600232_54637087del"	"deletion incl. OSCAR, NDUFA3, TFPT, PRPF31"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54096852_54133656del"	""	"likely pathogenic"	""
"0000816084"	"0"	"70"	"19"	"54624910"	"54633708"	"del"	"0"	"00000"	"PRPF31_000219"	"g.54624910_54633708del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 chr19:54624910_54633708del"	"range 8798-15168 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54121531_54130333del"	""	"likely pathogenic"	""
"0000816088"	"0"	"70"	"19"	"54606209"	"54614642"	"del"	"0"	"00000"	"PRPF31_000343"	"g.54606209_54614642del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr19:54606209_54614642del (c.-12977_-4544del)"	"given range does not contain PRPF31"	"Unknown"	"?"	""	"0"	""	""	"g.54102829_54111262del"	""	"likely pathogenic"	""
"0000816121"	"0"	"70"	"19"	"54625271"	"54625271"	"del"	"0"	"00000"	"PRPF31_000220"	"g.54625271del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.271del, p.Arg91AlafsTer9"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54121892del"	""	"likely pathogenic"	""
"0000816132"	"0"	"70"	"19"	"54625899"	"54625899"	"del"	"0"	"00000"	"PRPF31_000221"	"g.54625899del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.346del, p.Asp116IlefsTer82"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122520del"	""	"likely pathogenic"	""
"0000816141"	"0"	"70"	"19"	"54631718"	"54631723"	"del"	"0"	"00000"	"PRPF31_000228"	"g.54631718_54631723del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.1112_1117del, p.Ile371_Arg372del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128343_54128348del"	""	"likely pathogenic"	""
"0000816154"	"0"	"70"	"19"	"54632542"	"54632545"	"dup"	"0"	"00000"	"PRPF31_000230"	"g.54632542_54632545dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.1257_1260dupGATC, p.Ser421AspfsTer55"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54129167_54129170dup"	""	"likely pathogenic"	""
"0000816158"	"0"	"70"	"19"	"54634882"	"54637087"	"del"	"0"	"00000"	"PRPF31_000344"	"g.54634882_54637087del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr19:54634882_54637087del"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54131451_54133656del"	""	"likely pathogenic"	""
"0000816171"	"0"	"50"	"19"	"54629922"	"54629924"	"dup"	"0"	"00000"	"PRPF31_000226"	"g.54629922_54629924dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.875_877dup, p.Ala292_Arg293insPro"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54126547_54126549dup"	""	"VUS"	""
"0000816214"	"0"	"70"	"19"	"54604319"	"54634882"	"del"	"0"	"00000"	"PRPF31_000346"	"g.(?_54604319)_(54634882_?)del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr19:54604319_54634882del"	"OSCAR, NDUFA3, TFPT, PRPF31"	"Germline"	"?"	""	"0"	""	""	"g.(?_54100939)_(54131451_?)del"	""	"likely pathogenic"	""
"0000816236"	"0"	"70"	"19"	"54627233"	"54627233"	"del"	"0"	"00000"	"PRPF31_000224"	"g.54627233del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 c.633del, p.Met212CysfsTer27"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123854del"	""	"likely pathogenic"	""
"0000816240"	"0"	"70"	"19"	"54610320"	"54619055"	"del"	"0"	"00000"	"PRPF31_000217"	"g.54610320_54619055del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF31 chr19:54610320_54619055del"	"NDUFA3, TFPT, PRPF31 partial promoter deletion, range 14117-15168 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54115410_54115675del"	""	"likely pathogenic"	""
"0000816666"	"0"	"70"	"19"	"54625936"	"54625936"	"subst"	"0"	"00000"	"PRPF31_000222"	"g.54625936T>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.383T>A, p.L128X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122557T>A"	""	"likely pathogenic"	""
"0000816667"	"0"	"70"	"19"	"54631568"	"54631568"	"subst"	"0"	"00000"	"PRPF31_000227"	"g.54631568G>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.1066G>A, p.G356S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128193G>A"	""	"likely pathogenic"	""
"0000816668"	"0"	"70"	"19"	"54629901"	"54629901"	"subst"	"0"	"00000"	"PRPF31_000170"	"g.54629901A>G"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.856-2A>G, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54126526A>G"	""	"likely pathogenic"	""
"0000816669"	"0"	"70"	"19"	"54632507"	"54632507"	"subst"	"1.05254E-5"	"00000"	"PRPF31_000096"	"g.54632507C>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.1222C>T, p.R408W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54129132C>T"	""	"likely pathogenic"	""
"0000816670"	"0"	"70"	"19"	"54627089"	"54627131"	"del"	"0"	"00000"	"PRPF31_000187"	"g.54627089_54627131del"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.528-39_531del, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123710_54123752del"	""	"likely pathogenic"	""
"0000816671"	"0"	"70"	"19"	"54627089"	"54627131"	"del"	"0"	"00000"	"PRPF31_000187"	"g.54627089_54627131del"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.528-39_531del, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123710_54123752del"	""	"likely pathogenic"	""
"0000816672"	"0"	"70"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.322+4_322+7del, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54121947_54121950del"	""	"likely pathogenic"	""
"0000816673"	"0"	"70"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.322+4_322+7del, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54121947_54121950del"	""	"likely pathogenic"	""
"0000816674"	"0"	"70"	"19"	"54625979"	"54625979"	"subst"	"2.84255E-5"	"00000"	"PRPF31_000223"	"g.54625979C>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.420+6C>T, p.(?)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122600C>T"	""	"likely pathogenic"	""
"0000816675"	"0"	"70"	"19"	"54629919"	"54629919"	"subst"	"3.30371E-5"	"00000"	"PRPF31_000225"	"g.54629919C>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF31 c.872C>T, p.Ala291Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54126544C>T"	""	"likely pathogenic"	""
"0000817328"	"0"	"90"	"19"	"54122532"	"54122533"	"del"	"0"	"00000"	"PRPF31_000216"	"g.54122532_54122533del"	""	"{PMID:Sun 2020:32100970}"	""	"PRPF31 c.357_358delAA, p.Ser119SerfsX5, heterozygous"	"error in annotation: c.357_358delAA causes p.(Lys120GlufsTer4), and not p.(Ser119SerfsTer5)"	"Unknown"	"?"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic"	"ACMG"
"0000818982"	"3"	"50"	"19"	"54621650"	"54628036"	"dup"	"0"	"00000"	"PRPF31_000231"	"g.(54619178_54621650)_(54628036_54629902)dup"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr19:54621654–54628040dup"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000819316"	"1"	"70"	"19"	"54631456"	"54631457"	"dup"	"0"	"00000"	"PRPF31_000243"	"g.54631456_54631457dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.954_955dup/p.E319Afs*3"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128081_54128082dup"	""	"likely pathogenic"	""
"0000819317"	"1"	"70"	"19"	"54631456"	"54631457"	"dup"	"0"	"00000"	"PRPF31_000243"	"g.54631456_54631457dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.954_955dup/p.E319Afs*3"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128081_54128082dup"	""	"likely pathogenic"	""
"0000819318"	"1"	"70"	"19"	"54631456"	"54631457"	"dup"	"0"	"00000"	"PRPF31_000243"	"g.54631456_54631457dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.954_955dup/p.E319Afs*3"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128081_54128082dup"	""	"likely pathogenic"	""
"0000819360"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819361"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819362"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819363"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819364"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819365"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819366"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819547"	"1"	"70"	"19"	"54627943"	"54627943"	"subst"	"0"	"00000"	"PRPF31_000005"	"g.54627943C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.763C>T/p.Q255*"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124564C>T"	""	"likely pathogenic"	""
"0000819548"	"1"	"70"	"19"	"54627943"	"54627943"	"subst"	"0"	"00000"	"PRPF31_000005"	"g.54627943C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.763C>T/p.Q255*"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124564C>T"	""	"likely pathogenic"	""
"0000819780"	"1"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1060C>T/p.R354*"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic"	""
"0000819781"	"1"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1060C>T/p.R354*"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic"	""
"0000819784"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.360dupA/p.K120fs*5"	"NM_015629.3:c.360dupA: Variant reference (A) does not agree with reference sequence (G); it may be c.359dupA, but then the consequence is p.(Arg121Glufs*4), or c.360dupG (p.(Arg121Glufs*4)), solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819785"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.360dupA/p.K120fs*5"	"NM_015629.3:c.360dupA: Variant reference (A) does not agree with reference sequence (G); it may be c.359dupA, but then the consequence is p.(Arg121Glufs*4), or c.360dupG (p.(Arg121Glufs*4)), solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000819832"	"1"	"70"	"19"	"54632546"	"54632547"	"del"	"0"	"00000"	"PRPF31_000249"	"g.54632546_54632547del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1261_1262del/p.S421Qfs*53"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54129171_54129172del"	""	"likely pathogenic"	""
"0000820020"	"1"	"70"	"19"	"54631456"	"54631457"	"dup"	"0"	"00000"	"PRPF31_000243"	"g.54631456_54631457dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.954_955dup/p.E319Afs*3"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128081_54128082dup"	""	"likely pathogenic"	""
"0000820021"	"1"	"70"	"19"	"54631456"	"54631457"	"dup"	"0"	"00000"	"PRPF31_000243"	"g.54631456_54631457dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.954_955dup/p.E319Afs*3"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128081_54128082dup"	""	"likely pathogenic"	""
"0000820035"	"1"	"70"	"19"	"54621754"	"54621760"	"del"	"0"	"00000"	"PRPF31_000233"	"g.54621754_54621760del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.96_102del/p.I23Mfs*31"	"error in annotation, protein change should be p.(Ile32Metfs*31) and not p.(Ile23Metfs*31), solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118374_54118380del"	""	"likely pathogenic"	""
"0000820036"	"1"	"70"	"19"	"54621754"	"54621760"	"del"	"0"	"00000"	"PRPF31_000233"	"g.54621754_54621760del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.96_102del/p.I23Mfs*31"	"error in annotation, protein change should be p.(Ile32Metfs*31) and not p.(Ile23Metfs*31), solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118374_54118380del"	""	"likely pathogenic"	""
"0000820037"	"1"	"70"	"19"	"54621754"	"54621760"	"del"	"0"	"00000"	"PRPF31_000233"	"g.54621754_54621760del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.96_102del/p.I23Mfs*31"	"error in annotation, protein change should be p.(Ile32Metfs*31) and not p.(Ile23Metfs*31), solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118374_54118380del"	""	"likely pathogenic"	""
"0000820124"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820136"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820137"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820138"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820139"	"1"	"70"	"19"	"54621739"	"54621742"	"del"	"0"	"00000"	"PRPF31_000232"	"g.54621739_54621742del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.81_84del/p.E28Sfs*36"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118359_54118362del"	""	"likely pathogenic"	""
"0000820140"	"1"	"70"	"19"	"54621739"	"54621742"	"del"	"0"	"00000"	"PRPF31_000232"	"g.54621739_54621742del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.81_84del/p.E28Sfs*36"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118359_54118362del"	""	"likely pathogenic"	""
"0000820159"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 8-14"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820160"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 8-14"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820162"	"1"	"70"	"19"	"54627139"	"54627139"	"subst"	"0"	"00000"	"PRPF31_000239"	"g.54627139C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.539C>A/p.S180*"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123760C>A"	""	"likely pathogenic"	""
"0000820176"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 12-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820177"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 12-13"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820184"	"1"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.358_359del/p.K120Efs*4"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic"	""
"0000820222"	"1"	"70"	"19"	"54625973"	"54625973"	"subst"	"0"	"00000"	"PRPF31_000238"	"g.54625973G>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.420G>C/p.K140N"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122594G>C"	""	"likely pathogenic"	""
"0000820229"	"1"	"70"	"19"	"54631724"	"54631733"	"del"	"0"	"00000"	"PRPF31_000246"	"g.54631724_54631733del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1118_1127del/p.K373Tfs*3"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128349_54128358del"	""	"likely pathogenic"	""
"0000820232"	"1"	"70"	"19"	"54631747"	"54631747"	"subst"	"0"	"00000"	"PRPF31_000248"	"g.54631747G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1141G>T/p.G381*"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128372G>T"	""	"likely pathogenic"	""
"0000820236"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 2-3"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820239"	"1"	"70"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000244"	"g.54631678A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1074-2A>G/p?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128303A>G"	""	"likely pathogenic"	""
"0000820243"	"1"	"70"	"19"	"54621834"	"54621835"	"ins"	"0"	"00000"	"PRPF31_000234"	"g.54621834_54621835insTA"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.176_177insTA/p.M59Ifs*7"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118454_54118455insTA"	""	"likely pathogenic"	""
"0000820244"	"1"	"70"	"19"	"54621834"	"54621835"	"ins"	"0"	"00000"	"PRPF31_000234"	"g.54621834_54621835insTA"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.176_177insTA/p.M59Ifs*7"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118454_54118455insTA"	""	"likely pathogenic"	""
"0000820248"	"1"	"70"	"19"	"54633399"	"54633399"	"subst"	"0"	"00000"	"PRPF31_000059"	"g.54633399C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1374+654C>G/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54130024C>G"	""	"likely pathogenic"	""
"0000820252"	"1"	"70"	"19"	"54627877"	"54627877"	"subst"	"0"	"00000"	"PRPF31_000083"	"g.54627877G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.698-1G>A/p.?"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124498G>A"	""	"likely pathogenic"	""
"0000820253"	"1"	"70"	"19"	"54627877"	"54627877"	"subst"	"0"	"00000"	"PRPF31_000083"	"g.54627877G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.698-1G>A/p.?"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124498G>A"	""	"likely pathogenic"	""
"0000820288"	"1"	"70"	"19"	"54625279"	"54625279"	"dup"	"0"	"00000"	"PRPF31_000236"	"g.54625279dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.279dup/p.V94Rfs*19"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54121900dup"	""	"likely pathogenic"	""
"0000820291"	"1"	"70"	"19"	"54621739"	"54621742"	"del"	"0"	"00000"	"PRPF31_000232"	"g.54621739_54621742del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.81_84del/p.E28Sfs*36"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54118359_54118362del"	""	"likely pathogenic"	""
"0000820292"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 1-10"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820293"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 1-10"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820384"	"1"	"70"	"19"	"54631569"	"54631583"	"del"	"0"	"00000"	"PRPF31_000192"	"g.54631569_54631583del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1067_1073+8del/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128194_54128208del"	""	"likely pathogenic"	""
"0000820413"	"1"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1073+1G>A/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic"	""
"0000820442"	"1"	"70"	"19"	"54627877"	"54627877"	"subst"	"0"	"00000"	"PRPF31_000083"	"g.54627877G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.698-1G>A/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54124498G>A"	""	"likely pathogenic"	""
"0000820449"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion exon 4-13"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820459"	"1"	"70"	"19"	"54625924"	"54625928"	"del"	"0"	"00000"	"PRPF31_000237"	"g.54625924_54625928del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.371_375del/p.E124Gfs*28"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122545_54122549del"	""	"likely pathogenic"	""
"0000820466"	"1"	"70"	"19"	"54631455"	"54631461"	"del"	"0"	"00000"	"PRPF31_000242"	"g.54631455_54631461del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.953_959del/p.Y318*"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128080_54128086del"	""	"likely pathogenic"	""
"0000820529"	"1"	"70"	"19"	"54631550"	"54631550"	"subst"	"0"	"00000"	"PRPF31_000191"	"g.54631550C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1048C>T/p.Q350*"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128175C>T"	""	"likely pathogenic"	""
"0000820536"	"1"	"70"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1074-2A>T/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128303A>T"	""	"likely pathogenic"	""
"0000820571"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion entire gene"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820578"	"1"	"70"	"19"	"54632560"	"54632560"	"subst"	"0"	"00000"	"PRPF31_000250"	"g.54632560G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.1275G>T/p.Q425H"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54129185G>T"	""	"likely pathogenic"	""
"0000820594"	"1"	"70"	"19"	"54627182"	"54627183"	"del"	"0"	"00000"	"PRPF31_000240"	"g.54627182_54627183del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.582_583del/p.L195Gfs*83"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123803_54123804del"	""	"likely pathogenic"	""
"0000820595"	"1"	"70"	"19"	"54621951"	"54621951"	"subst"	"0"	"00000"	"PRPF31_000235"	"g.54621951A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1: c.178-2A>G/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54118571A>G"	""	"likely pathogenic"	""
"0000820597"	"1"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF31, variant 1 :Deletion entire gene"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000821340"	"0"	"70"	"19"	"54621659"	"54621659"	"subst"	"0"	"00000"	"PRPF31_000078"	"g.54621659A>T"	""	"{PMID:Turro 2020:32581362}"	""	"PRPF31 c.1A>T, p.Met1?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54118279A>T"	""	"likely pathogenic"	""
"0000821341"	"0"	"70"	"19"	"54628018"	"54628021"	"dup"	"0"	"00000"	"PRPF31_000241"	"g.54628018_54628021dup"	""	"{PMID:Turro 2020:32581362}"	""	"PRPF31 c.838_841dupGTGC, p.Gln281ArgfsTer44"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54124639_54124642dup"	""	"likely pathogenic"	""
"0000821342"	"0"	"70"	"19"	"54631735"	"54631735"	"del"	"0"	"00000"	"PRPF31_000247"	"g.54631735del"	""	"{PMID:Turro 2020:32581362}"	""	"PRPF31 c.1129delC, p.Arg377ValfsTer2"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54128360del"	""	"likely pathogenic"	""
"0000821471"	"0"	"70"	"19"	"54622548"	"54633842"	"del"	"0"	"00000"	"PRPF31_000214"	"g.54622548_54633842del"	""	"{PMID:Turro 2020:32581362}"	""	"chr19:g.54622548_54633842del"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000821472"	"0"	"70"	"19"	"54632279"	"54632481"	"del"	"0"	"00000"	"PRPF31_000214"	"g.54632279_54632481del"	""	"{PMID:Turro 2020:32581362}"	""	"chr19:g.54632279_54632481del"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000824332"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 19kb+ del exons 1-3, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000824334"	"0"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.1215delG, p.(R406Vfs*7)"	"incomplete penetrance in the family"	"Unknown"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic"	"ACMG"
"0000824338"	"0"	"90"	"19"	"54629902"	"54629902"	"subst"	"0"	"00000"	"PRPF31_000255"	"g.54629902G>C"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31  c.856-1G>C, p.(?)"	""	"Unknown"	"?"	""	"0"	""	""	"g.54126527G>C"	""	"pathogenic"	"ACMG"
"0000824339"	"0"	"90"	"19"	"54625875"	"54625875"	"subst"	"0"	"00000"	"PRPF31_000251"	"g.54625875G>C"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.323-1G>C, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54122496G>C"	""	"pathogenic"	"ACMG"
"0000824342"	"0"	"90"	"19"	"54627184"	"54627184"	"subst"	"0"	"00000"	"PRPF31_000027"	"g.54627184T>C"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.584T>C, p.(L195P)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54123805T>C"	""	"pathogenic"	"ACMG"
"0000824343"	"0"	"90"	"19"	"54633399"	"54633399"	"subst"	"0"	"00000"	"PRPF31_000059"	"g.54633399C>G"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.1374+654C>G, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54130024C>G"	""	"pathogenic"	"ACMG"
"0000824350"	"0"	"90"	"19"	"54628034"	"54628045"	"del"	"0"	"00000"	"PRPF31_000254"	"g.54628034_54628045del"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.850_855+6 del, p.(?)"	"error in annotation, automapping of c.850_855+6del to c.854_855+10del; incomplete penetrance in the family"	"Unknown"	"yes"	""	"0"	""	""	"g.54124655_54124666del"	""	"pathogenic"	"ACMG"
"0000824360"	"0"	"90"	"19"	"54625897"	"54625897"	"subst"	"0"	"00000"	"PRPF31_000252"	"g.54625897G>C"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.344G>C, p.(R115P)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54122518G>C"	""	"pathogenic"	"ACMG"
"0000824361"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 452bp+ del exons 2-3, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000824363"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 18kb+ del exons 1-14, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000824365"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 18kb+ del exons 1-14, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000824366"	"0"	"90"	"19"	"54629963"	"54629963"	"subst"	"0"	"00000"	"PRPF31_000029"	"g.54629963G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.916G>A, p.(D306N)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54126588G>A"	""	"pathogenic"	"ACMG"
"0000824373"	"0"	"90"	"19"	"54626878"	"54626878"	"subst"	"0"	"00000"	"PRPF31_000253"	"g.54626878C>T"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.466C>T, p.(Q156*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.54123499C>T"	""	"pathogenic"	"ACMG"
"0000824376"	"0"	"90"	"19"	"54634862"	"54634862"	"subst"	"0"	"00000"	"PRPF31_000258"	"g.54634862G>T"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31  c.1499G>T, p.(*500Lext*23)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54131431G>T"	""	"pathogenic"	"ACMG"
"0000824378"	"0"	"90"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.220C>T, p.(Q74*)"	"incomplete penetrance in the family"	"Unknown"	"yes"	""	"0"	""	""	"g.54118615C>T"	""	"pathogenic"	"ACMG"
"0000824381"	"0"	"90"	"19"	"54626832"	"54626832"	"subst"	"0"	"00000"	"PRPF31_000085"	"g.54626832G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.421-1G>A, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54123453G>A"	""	"pathogenic"	"ACMG"
"0000824395"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 18kb+ del exons 1-14, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000824400"	"0"	"70"	"19"	"54631752"	"54631752"	"subst"	"0"	"00000"	"PRPF31_000256"	"g.54631752G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 c.1146G>A, p.(E382E)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.54128377G>A"	""	"likely pathogenic"	"ACMG"
"0000824401"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 452bp+ del exons 2-3, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000824407"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Xiao-2021:33598457}"	""	"PRPF31 7.5kb+ del exons 2-8, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000825779"	"0"	"70"	"19"	"54625320"	"54625320"	"subst"	"0"	"00000"	"PRPF31_000173"	"g.54625320T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.320T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000825871"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.1060C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000825905"	"0"	"70"	"19"	"54627965"	"54627965"	"subst"	"0"	"00000"	"PRPF31_000175"	"g.54627965T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.785T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000825993"	"0"	"70"	"19"	"54621650"	"54635151"	"del"	"0"	"00000"	"PRPF31_000261"	"g.54621650_54635151del"	""	"{PMID:Liu-2020:33090715}"	""	"E2-14del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826006"	"0"	"70"	"19"	"54618789"	"54635151"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54618789_54635151del"	""	"{PMID:Liu-2020:33090715}"	""	"E1-14del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826027"	"0"	"70"	"19"	"54621650"	"54622014"	"del"	"0"	"00000"	"PRPF31_000259"	"g.54621650_54622014del"	""	"{PMID:Liu-2020:33090715}"	""	"E2-3del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826048"	"0"	"70"	"19"	"54621650"	"54632746"	"del"	"0"	"00000"	"PRPF31_000260"	"g.54621650_54632746del"	""	"{PMID:Liu-2020:33090715}"	""	"E2-13del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826137"	"0"	"70"	"19"	"54634737"	"54635151"	"del"	"0"	"00000"	"PRPF31_000269"	"g.54634737_54635151del"	""	"{PMID:Liu-2020:33090715}"	""	"E14del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826152"	"0"	"70"	"19"	"54625237"	"54625237"	"subst"	"0"	"00000"	"PRPF31_000262"	"g.54625237A>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.239-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826206"	"0"	"70"	"19"	"54625293"	"54625294"	"ins"	"0"	"00000"	"PRPF31_000263"	"g.54625293_54625294insTCTGA"	""	"{PMID:Liu-2020:33090715}"	""	"c.293_294insTCTGA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826252"	"0"	"70"	"19"	"54634737"	"54635151"	"del"	"0"	"00000"	"PRPF31_000269"	"g.54634737_54635151del"	""	"{PMID:Liu-2020:33090715}"	""	"E14del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826387"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.1073+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826945"	"3"	"70"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"00000"	"PRPF31_000019"	"g.54631580G>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"PRPF31 c.1073+5G>A, could affect splicing"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128205G>A"	""	"likely pathogenic"	""
"0000826946"	"3"	"70"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"00000"	"PRPF31_000019"	"g.54631580G>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"PRPF31 c.1073+5G>A, could affect splicing"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128205G>A"	""	"likely pathogenic"	""
"0000827134"	"0"	"90"	"19"	"54631494"	"54631494"	"subst"	"0"	"00000"	"PRPF31_000266"	"g.54631494G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.992G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827135"	"0"	"90"	"19"	"54627151"	"54627152"	"ins"	"0"	"00000"	"PRPF31_000265"	"g.54627151_54627152insCCGGAGCT"	""	"{PMID:Colombo-2020:33576794}"	""	"c.551_552insCCGGAGCT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827136"	"0"	"90"	"19"	"54632490"	"54632490"	"subst"	"0"	"00000"	"PRPF31_000267"	"g.54632490C>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1205C>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827137"	"0"	"90"	"19"	"54627149"	"54627149"	"del"	"0"	"00000"	"PRPF31_000264"	"g.54627149del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.549del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827138"	"0"	"50"	"19"	"54632678"	"54632678"	"subst"	"8.4134E-6"	"00000"	"PRPF31_000268"	"g.54632678G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1307G>A"	""	"Germline"	"yes"	"rs746117107"	"0"	""	""	""	""	"VUS"	""
"0000828837"	"0"	"90"	"19"	"54634736"	"54634736"	"subst"	"0"	"00000"	"PRPF31_000271"	"g.54634736A>G"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[1375-2A>G];[1375-2=], V1: c.1375-2A>G,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54131305A>G"	""	"pathogenic"	"ACMG"
"0000828847"	"0"	"90"	"19"	"54627216"	"54627216"	"subst"	"0"	"00000"	"PRPF31_000003"	"g.54627216G>T"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[616G>T];[616=], V1: c.616G>T, (p.Glu206Ter)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123837G>T"	""	"pathogenic"	"ACMG"
"0000828862"	"0"	"70"	"19"	"54631545"	"54631545"	"subst"	"0"	"00000"	"PRPF31_000270"	"g.54631545A>C"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[1043A>C];[1043=], V1: c.1043A>C, (p.Asp348Ala)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128170A>C"	""	"likely pathogenic"	"ACMG"
"0000828876"	"0"	"50"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[527+3A>G];[527+3=], V1: c.527+3A>G,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54123563A>G"	""	"VUS"	"ACMG"
"0000828901"	"0"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[1060C>T];[1060=], V1: c.1060C>T, (p.Arg354Ter)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	"ACMG"
"0000828916"	"0"	"70"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[910C>T];[910=], V1: c.910C>T, (p.Arg304Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54126582C>T"	""	"likely pathogenic"	"ACMG"
"0000828935"	"0"	"70"	"19"	"54627995"	"54627995"	"subst"	"0"	"00000"	"PRPF31_000107"	"g.54627995G>T"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF31 c.[815G>T];[815G=], V1: c.815G>T, (p.Gly272Val)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54124616G>T"	""	"likely pathogenic"	"ACMG"
"0000829717"	"1"	"70"	"19"	"54631726"	"54631726"	"subst"	"0"	"00006"	"PRPF31_000021"	"g.54631726C>T"	""	"{PMID:Ellingford 2016:26872967}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.54128351C>T"	""	"likely pathogenic"	""
"0000829795"	"0"	"70"	"19"	"54627127"	"54627127"	"subst"	"0"	"00000"	"PRPF31_000273"	"g.54627127G>T"	""	"{PMID:Dockery 2017:29099798}"	""	"PRPF31 c.528-1G>T, p.?"	"only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees,"	"Germline"	"yes"	""	"0"	""	""	"g.54123748G>T"	""	"likely pathogenic"	""
"0000829849"	"0"	"90"	"19"	"54625316"	"54625316"	"subst"	"0"	"00000"	"PRPF31_000272"	"g.54625316G>T"	""	"{PMID:Numa-2020:33247286}"	""	"c.316G>T:p.E106X"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829941"	"0"	"90"	"19"	"54621650"	"54622014"	"del"	"0"	"00000"	"PRPF31_000259"	"g.54621650_54622014del"	""	"{PMID:Numa-2020:33247286}"	""	"Gross deletion including exon 2 and 3***"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000855693"	"0"	"50"	"19"	"54621676"	"54621676"	"subst"	"0"	"02327"	"PRPF31_000131"	"g.54621676G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855694"	"0"	"50"	"19"	"54625878"	"54625878"	"subst"	"0"	"02327"	"PRPF31_000025"	"g.54625878A>G"	""	""	""	"PRPF31(NM_015629.4):c.325A>G (p.I109V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896513"	"1"	"70"	"19"	"54629957"	"54629957"	"subst"	"1.23162E-5"	"00000"	"PRPF31_000002"	"g.54629957C>T"	"Taiwan Biobank: 0; GnomAD_exome_East: ; GnomAD_All:"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[910C>T];[910=]; p.(Arg304Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126582C>T"	""	"likely pathogenic"	""
"0000896514"	"1"	"50"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	"Taiwan Biobank: 0; GnomAD_exome_East: ; GnomAD_All:"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[527+3A>G];[527+3=]; p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123563A>G"	""	"VUS"	""
"0000896535"	"1"	"90"	"19"	"54634736"	"54634736"	"subst"	"0"	"00000"	"PRPF31_000271"	"g.54634736A>G"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[1375-2A>G];[1375-2=]; p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54131305A>G"	""	"pathogenic"	""
"0000896597"	"1"	"70"	"19"	"54627995"	"54627995"	"subst"	"0"	"00000"	"PRPF31_000107"	"g.54627995G>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[815G>T];[815G=]; p.(Gly272Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124616G>T"	""	"likely pathogenic"	""
"0000896621"	"1"	"70"	"19"	"54631545"	"54631545"	"subst"	"0"	"00000"	"PRPF31_000270"	"g.54631545A>C"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[1043A>C];[1043=]; p.(Asp348Ala)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128170A>C"	""	"likely pathogenic"	""
"0000896683"	"1"	"90"	"19"	"54627216"	"54627216"	"subst"	"0"	"00000"	"PRPF31_000003"	"g.54627216G>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[616G>T];[616=]; p.(Glu206Ter)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123837G>T"	""	"pathogenic"	""
"0000896697"	"1"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"PRPF31 c.[1060C>T];[1060=]; p.(Arg354Ter)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	""
"0000896999"	"0"	"90"	"19"	"54621704"	"54621704"	"subst"	"0"	"00000"	"PRPF31_000275"	"g.54621704G>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.46G > T, p.(E16*)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54118324G>T"	""	"pathogenic"	"ACMG"
"0000897000"	"0"	"90"	"19"	"54621951"	"54621951"	"subst"	"0"	"00000"	"PRPF31_000235"	"g.54621951A>G"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.178-2A > G, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54118571A>G"	""	"pathogenic"	"ACMG"
"0000897001"	"11"	"90"	"19"	"54621955"	"54621955"	"dup"	"0"	"00000"	"PRPF31_000276"	"g.54621955dup"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.180dup, p.(A61Cfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118575dup"	""	"pathogenic"	"ACMG"
"0000897002"	"0"	"90"	"19"	"54621955"	"54621955"	"dup"	"0"	"00000"	"PRPF31_000276"	"g.54621955dup"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.180dup, p.(A61Cfs*2)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54118575dup"	""	"pathogenic"	"ACMG"
"0000897003"	"21"	"90"	"19"	"54621955"	"54621955"	"dup"	"0"	"00000"	"PRPF31_000276"	"g.54621955dup"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.180dup, p.(A61Cfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118575dup"	""	"pathogenic"	"ACMG"
"0000897004"	"21"	"90"	"19"	"54621955"	"54621955"	"dup"	"0"	"00000"	"PRPF31_000276"	"g.54621955dup"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.180dup, p.(A61Cfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118575dup"	""	"pathogenic"	"ACMG"
"0000897005"	"21"	"90"	"19"	"54621955"	"54621955"	"dup"	"0"	"00000"	"PRPF31_000276"	"g.54621955dup"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.180dup, p.(A61Cfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118575dup"	""	"pathogenic"	"ACMG"
"0000897006"	"0"	"90"	"19"	"54625238"	"54625238"	"subst"	"0"	"00000"	"PRPF31_000024"	"g.54625238G>A"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.239-1G > A, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54121859G>A"	""	"pathogenic"	"ACMG"
"0000897007"	"20"	"90"	"19"	"54625281"	"54625297"	"del"	"0"	"00000"	"PRPF31_000277"	"g.54625281_54625297del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.281_297del, p.(V94Dfs*13)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54121902_54121918del"	""	"pathogenic"	"ACMG"
"0000897008"	"0"	"90"	"19"	"54625281"	"54625297"	"del"	"0"	"00000"	"PRPF31_000277"	"g.54625281_54625297del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.281_297del, p.(V94Dfs*13)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54121902_54121918del"	""	"pathogenic"	"ACMG"
"0000897009"	"21"	"90"	"19"	"54625281"	"54625297"	"del"	"0"	"00000"	"PRPF31_000277"	"g.54625281_54625297del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.281_297del, p.(V94Dfs*13)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54121902_54121918del"	""	"pathogenic"	"ACMG"
"0000897010"	"21"	"90"	"19"	"54625324"	"54625324"	"subst"	"0"	"00000"	"PRPF31_000278"	"g.54625324T>C"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.322 + 2 T > C, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54121945T>C"	""	"pathogenic"	"ACMG"
"0000897011"	"0"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.358_359del, p.(K120Efs*4)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic"	"ACMG"
"0000897012"	"21"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.358_359del, p.(K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic"	"ACMG"
"0000897013"	"21"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.358_359del, p.(K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic"	"ACMG"
"0000897014"	"0"	"90"	"19"	"54625974"	"54625974"	"subst"	"0"	"00000"	"PRPF31_000279"	"g.54625974G>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.420 + 1G > T, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54122595G>T"	""	"pathogenic"	"ACMG"
"0000897015"	"11"	"90"	"19"	"54625974"	"54625974"	"subst"	"0"	"00000"	"PRPF31_000279"	"g.54625974G>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.420 + 1G > T, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122595G>T"	""	"pathogenic"	"ACMG"
"0000897016"	"0"	"90"	"19"	"54627241"	"54627241"	"del"	"0"	"00000"	"PRPF31_000280"	"g.54627241del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.641del, p.(F214Sfs*25)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54123862del"	""	"pathogenic"	"ACMG"
"0000897017"	"20"	"90"	"19"	"54629902"	"54629902"	"subst"	"0"	"00000"	"PRPF31_000281"	"g.54629902G>A"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.856-1G > A, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54126527G>A"	""	"pathogenic"	"ACMG"
"0000897018"	"10"	"90"	"19"	"54629945"	"54629945"	"del"	"0"	"00000"	"PRPF31_000282"	"g.54629945del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.898del, p.(T300Hfs*21)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54126570del"	""	"pathogenic"	"ACMG"
"0000897019"	"0"	"90"	"19"	"54631475"	"54631475"	"subst"	"0"	"00000"	"PRPF31_000109"	"g.54631475G>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.973G > T, p.(E325*)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54128100G>T"	""	"pathogenic"	"ACMG"
"0000897020"	"11"	"90"	"19"	"54631475"	"54631475"	"subst"	"0"	"00000"	"PRPF31_000109"	"g.54631475G>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.973G > T, p.(E325*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128100G>T"	""	"pathogenic"	"ACMG"
"0000897021"	"10"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.1060C > T, p.(R354*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	"ACMG"
"0000897022"	"11"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.1060C > T, p.(R354*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	"ACMG"
"0000897023"	"11"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.1060C > T, p.(R354*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	"ACMG"
"0000897024"	"0"	"90"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 c.1073 + 1G > A, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"pathogenic"	"ACMG"
"0000897025"	"0"	"90"	"19"	"54619709"	"54635793"	"del"	"0"	"00000"	"PRPF31_000214"	"g.54619709_54635793del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 g.54619709-54635793del, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54116329_54132413del"	""	"pathogenic"	"ACMG"
"0000897026"	"21"	"90"	"19"	"54619709"	"54635793"	"del"	"0"	"00000"	"PRPF31_000214"	"g.54619709_54635793del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 g.54619709-54635793del, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54116329_54132413del"	""	"pathogenic"	"ACMG"
"0000897027"	"21"	"90"	"19"	"54619709"	"54635793"	"del"	"0"	"00000"	"PRPF31_000214"	"g.54619709_54635793del"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF31 g.54619709-54635793del, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54116329_54132413del"	""	"pathogenic"	"ACMG"
"0000903263"	"11"	"70"	"19"	"54625894"	"54625894"	"subst"	"0"	"00000"	"PRPF31_000118"	"g.54625894T>A"	""	"{PMID:Wheway 2019:30967900}"	""	"PRPF31 c.341T>A, p.(Ile114Asn)"	"results in protein insolubility with downstream effects on nuclear morphology; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54122515T>A"	""	"likely pathogenic (dominant)"	""
"0000903264"	"0"	"70"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.527+1G>T"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123561G>T"	""	"likely pathogenic (dominant)"	""
"0000903265"	"0"	"70"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.527+1G>T"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123561G>T"	""	"likely pathogenic (dominant)"	""
"0000903266"	"0"	"70"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.527+3A>G"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123563A>G"	""	"likely pathogenic (dominant)"	""
"0000903267"	"0"	"70"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.527+3A>G"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123563A>G"	""	"likely pathogenic (dominant)"	""
"0000903268"	"0"	"70"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.527+3A>G"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123563A>G"	""	"likely pathogenic (dominant)"	""
"0000903269"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1060C>T"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic (dominant)"	""
"0000903270"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1073+1G>A"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic (dominant)"	""
"0000903271"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1073+1G>A"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic (dominant)"	""
"0000903272"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1073+1G>A"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic (dominant)"	""
"0000903273"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1073+1G>A"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic (dominant)"	""
"0000903274"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1073+1G>A"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic (dominant)"	""
"0000903275"	"0"	"70"	"19"	"54631576"	"54631576"	"subst"	"0"	"00000"	"PRPF31_000095"	"g.54631576G>A"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1073+1G>A"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128201G>A"	""	"likely pathogenic (dominant)"	""
"0000903276"	"0"	"70"	"19"	"54621656"	"54621665"	"del"	"0"	"00000"	"PRPF31_000184"	"g.54621656_54621665del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.-3_7del"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54118276_54118285del"	""	"likely pathogenic (dominant)"	""
"0000903277"	"0"	"70"	"19"	"54621656"	"54621665"	"del"	"0"	"00000"	"PRPF31_000184"	"g.54621656_54621665del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.-3_7del"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54118276_54118285del"	""	"likely pathogenic (dominant)"	""
"0000903278"	"0"	"70"	"19"	"54621656"	"54621665"	"del"	"0"	"00000"	"PRPF31_000184"	"g.54621656_54621665del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.-3_7del"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54118276_54118285del"	""	"likely pathogenic (dominant)"	""
"0000903279"	"0"	"70"	"19"	"54627150"	"54627152"	"del"	"0"	"00000"	"PRPF31_000291"	"g.54627150_54627152del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.550_552del"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123771_54123773del"	""	"likely pathogenic (dominant)"	""
"0000903280"	"0"	"70"	"19"	"54627938"	"54627947"	"del"	"0"	"00000"	"PRPF31_000092"	"g.54627938_54627947del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.758_767del"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54124559_54124568del"	""	"likely pathogenic (dominant)"	""
"0000903281"	"0"	"70"	"19"	"54631690"	"54631690"	"del"	"0"	"00000"	"PRPF31_000193"	"g.54631690del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.1084delA"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54128315del"	""	"likely pathogenic (dominant)"	""
"0000903282"	"0"	"70"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.895T>C"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54126567T>C"	""	"likely pathogenic (dominant)"	""
"0000903283"	"0"	"70"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.895T>C"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54126567T>C"	""	"likely pathogenic (dominant)"	""
"0000903284"	"0"	"70"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.895T>C"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54126567T>C"	""	"likely pathogenic (dominant)"	""
"0000903285"	"0"	"70"	"19"	"54619068"	"54619216"	"delins"	"0"	"00000"	"PRPF31_000284"	"g.54619068_54619216delins640"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted"	"heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200"	"Germline"	"?"	""	"0"	""	""	"g.54115688_54115836delins640"	""	"likely pathogenic (dominant)"	""
"0000903286"	"0"	"70"	"19"	"54619068"	"54619216"	"delins"	"0"	"00000"	"PRPF31_000285"	"g.54619068_54619216delins641"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted"	"heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200"	"Germline"	"?"	""	"0"	""	""	"g.54115688_54115836delins641"	""	"likely pathogenic (dominant)"	""
"0000903287"	"0"	"70"	"19"	"54619068"	"54619216"	"delins"	"0"	"00000"	"PRPF31_000286"	"g.54619068_54619216delins642"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted"	"heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200"	"Germline"	"?"	""	"0"	""	""	"g.54115688_54115836delins642"	""	"likely pathogenic (dominant)"	""
"0000903288"	"0"	"70"	"19"	"54619068"	"54619216"	"delins"	"0"	"00000"	"PRPF31_000287"	"g.54619068_54619216delins643"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted"	"heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200"	"Germline"	"?"	""	"0"	""	""	"g.54115688_54115836delins643"	""	"likely pathogenic (dominant)"	""
"0000903289"	"0"	"70"	"19"	"54619068"	"54619216"	"delins"	"0"	"00000"	"PRPF31_000288"	"g.54619068_54619216delins644"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted"	"heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200"	"Germline"	"?"	""	"0"	""	""	"g.54115688_54115836delins644"	""	"likely pathogenic (dominant)"	""
"0000903290"	"0"	"70"	"19"	"54625943"	"54625943"	"del"	"0"	"00000"	"PRPF31_000101"	"g.54625943del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.390delC"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54122564del"	""	"likely pathogenic (dominant)"	""
"0000903291"	"0"	"70"	"19"	"54625943"	"54625943"	"del"	"0"	"00000"	"PRPF31_000101"	"g.54625943del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.390delC"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54122564del"	""	"likely pathogenic (dominant)"	""
"0000903292"	"0"	"70"	"19"	"54625943"	"54625943"	"del"	"0"	"00000"	"PRPF31_000101"	"g.54625943del"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.390delC, p.(Asn131Metfs*67)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54122564del"	""	"likely pathogenic (dominant)"	""
"0000903293"	"0"	"70"	"19"	"54626936"	"54626937"	"dup"	"0"	"00000"	"PRPF31_000289"	"g.54626936_54626937dup"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.525_526insAG, p.(Gly176Argfs*23)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123557_54123558dup"	""	"likely pathogenic (dominant)"	""
"0000903294"	"0"	"70"	"19"	"54621995"	"54621995"	"subst"	"0"	"00000"	"PRPF31_000088"	"g.54621995C>T"	""	"{PMID:Kiser 2019:30582903}"	""	"PRPF31 c.220C>T, p.(Gln74*)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54118615C>T"	""	"likely pathogenic (dominant)"	""
"0000903295"	"0"	"50"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Huryn 2019:30339877}"	""	"PRPF31 c.829A>C, p.(Ser277Arg)"	"also a pathogenic DICER1 variant carrier, annotation not mentioned in the publication; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123561G>T"	""	"VUS"	""
"0000904325"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904326"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904327"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904328"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904329"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904330"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904331"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904332"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904333"	"0"	"90"	"19"	"54629943"	"54629943"	"subst"	"0"	"00000"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Bhatia 2018:30099644}"	""	"PRPF31 c.896G>A, p.(Cys299Tyr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.54126568G>A"	""	"pathogenic (dominant)"	""
"0000904351"	"10"	"90"	"19"	"54627190"	"54627190"	"subst"	"0"	"00000"	"PRPF31_000086"	"g.54627190T>C"	""	"{PMID:Bryant 2019:30030392}"	""	"PRPF31 c.590T>C, (p.Leu197Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123811T>C"	""	"pathogenic (dominant)"	""
"0000904352"	"10"	"90"	"19"	"54627190"	"54627190"	"subst"	"0"	"00000"	"PRPF31_000086"	"g.54627190T>C"	""	"{PMID:Bryant 2019:30030392}"	""	"PRPF31 c.590T>C, (p.Leu197Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123811T>C"	""	"pathogenic (dominant)"	""
"0000904353"	"10"	"90"	"19"	"54627190"	"54627190"	"subst"	"0"	"00000"	"PRPF31_000086"	"g.54627190T>C"	""	"{PMID:Bryant 2019:30030392}"	""	"PRPF31 c.590T>C, (p.Leu197Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123811T>C"	""	"pathogenic (dominant)"	""
"0000904355"	"10"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.527 + 3A>G, splicing"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123563A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000904356"	"10"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.527 + 3A>G, splicing"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123563A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000904357"	"11"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.527 + 3A>G, splicing"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123563A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000904358"	"11"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.527 + 3A>G, splicing"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123563A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000904359"	"11"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.527 + 3A>G, splicing"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123563A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000904360"	"0"	"90"	"20"	"54632511"	"54632511"	"dup"	"0"	"00000"	"PRPF31_000001"	"g.54632511dup"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.1226_1227insA, p.Q409fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54129136dup"	""	"pathogenic (dominant)"	"ACMG"
"0000904361"	"11"	"90"	"21"	"54632511"	"54632511"	"dup"	"0"	"00000"	"PRPF31_000001"	"g.54632511dup"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31 c.1226_1227insA, p.Q409fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54129136dup"	""	"pathogenic (dominant)"	"ACMG"
"0000904362"	"0"	"90"	"19"	"54631517"	"54631517"	"subst"	"0"	"00000"	"PRPF31_000294"	"g.54631517C>T"	""	"{PMID:Xie 2018:29957067}"	""	"PRPF31c.1015C>T, p.Q339X"	"heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.54128142C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000904477"	"0"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904478"	"11"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904479"	"11"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904480"	"0"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904481"	"11"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904482"	"11"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904483"	"21"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904484"	"0"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	"0/200 normal subjects"	"{PMID:Zheng 2018:29375987}"	""	"PRPF31 c.357_358delAA (p.Ser119SerfsX5)"	"error in annotation, first affected amino acid shiftsit to p.(Lys120Glufs*4); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.54122532_54122533del"	""	"pathogenic (dominant)"	""
"0000904485"	"0"	"70"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Kurata 2018:29305715}"	""	"PRPF31 c.1060C>T, p.(R354*)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54128187C>T"	""	"likely pathogenic (dominant)"	""
"0000904486"	"20"	"70"	"19"	"54626845"	"54626846"	"del"	"0"	"00000"	"PRPF31_000283"	"g.54626845_54626846del"	""	"{PMID:Kurata 2018:29305715}"	""	"PRPF31 c.433_434del, p.(S145Pfs*8)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.54123466_54123467del"	""	"likely pathogenic (dominant)"	""
"0000904487"	"0"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904488"	"11"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904489"	"11"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904490"	"11"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904491"	"11"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904492"	"21"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904493"	"21"	"90"	"19"	"54627147"	"54627147"	"del"	"0"	"00000"	"PRPF31_000290"	"g.54627147del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon7:c.547delG:p.E183fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123768del"	""	"pathogenic (dominant)"	""
"0000904494"	"10"	"90"	"19"	"54627984"	"54627984"	"del"	"0"	"00000"	"PRPF31_000292"	"g.54627984del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon8:c.804delG:p.L268fs"	"error in annotation, first affected amino acis shifts it to p.(His270Thrfs*51); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124605del"	""	"pathogenic (dominant)"	""
"0000904495"	"10"	"90"	"19"	"54627984"	"54627984"	"del"	"0"	"00000"	"PRPF31_000292"	"g.54627984del"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon8:c.804delG:p.L268fs"	"error in annotation, first affected amino acis shifts it to p.(His270Thrfs*51); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124605del"	""	"pathogenic (dominant)"	""
"0000904496"	"20"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904497"	"11"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904498"	"11"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904499"	"11"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904500"	"21"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904501"	"21"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904502"	"21"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00000"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_015629:exon10:c.1060 C>T,p.R354X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128187C>T"	""	"pathogenic (dominant)"	""
"0000904503"	"0"	"90"	"4"	"15985944"	"15985944"	"subst"	"0"	"00000"	"PROM1_000261"	"g.15985944G>A"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_006017:exon22:c.C2315T:p.A772V"	"heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.15984321G>A"	""	"pathogenic (dominant)"	""
"0000904504"	"0"	"90"	"4"	"15982076"	"15982076"	"subst"	"0.000143511"	"00000"	"PROM1_000260"	"g.15982076G>C"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_001145851:exon22:c.C2431G:p.R811G"	"different transcript: NM_001145851:c.2431C>G:p.R811G shifted to NM_006017.2:c.2458C>G:p.R820G; heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.15980453G>C"	""	"pathogenic (dominant)"	""
"0000904505"	"0"	"90"	"6"	"64498042"	"64498042"	"subst"	"1.34474E-5"	"00000"	"EYS_000864"	"g.64498042G>A"	""	"{PMID:Xiao 2017:29260190}"	""	"NM_001142800:exon39:c.C7679T:p.P2560L"	"heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.63788149G>A"	""	"pathogenic (dominant)"	""
"0000904717"	"10"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000904718"	"10"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000904719"	"10"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000904720"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000904721"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000904722"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000904723"	"21"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Xiao 2017:28430325}"	""	"PRPF31 c.357_358delAA (p.K120Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905102"	"10"	"90"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.541G>T, p.(Glu181*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123762G>T"	""	"pathogenic (dominant)"	""
"0000905103"	"21"	"90"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.541G>T, p.(Glu181*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123762G>T"	""	"pathogenic (dominant)"	""
"0000905104"	"20"	"90"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000164"	"g.54631754T>A"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.1146+2T>A, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128379T>A"	""	"pathogenic (dominant)"	""
"0000905105"	"20"	"90"	"19"	"54625881"	"54625883"	"del"	"0"	"00000"	"PRPF31_000161"	"g.54625881_54625883del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.328_330del, p.(Ile110del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122502_54122504del"	""	"pathogenic (dominant)"	""
"0000905106"	"11"	"90"	"19"	"54625881"	"54625883"	"del"	"0"	"00000"	"PRPF31_000161"	"g.54625881_54625883del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.328_330del, p.(Ile110del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122502_54122504del"	""	"pathogenic (dominant)"	""
"0000905107"	"11"	"90"	"19"	"54625881"	"54625883"	"del"	"0"	"00000"	"PRPF31_000161"	"g.54625881_54625883del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.328_330del, p.(Ile110del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122502_54122504del"	""	"pathogenic (dominant)"	""
"0000905108"	"11"	"90"	"19"	"54625881"	"54625883"	"del"	"0"	"00000"	"PRPF31_000161"	"g.54625881_54625883del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.328_330del, p.(Ile110del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54122502_54122504del"	""	"pathogenic (dominant)"	""
"0000905109"	"20"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905110"	"20"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905111"	"20"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905112"	"20"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905113"	"20"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905114"	"20"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905115"	"11"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905116"	"11"	"90"	"19"	"54628008"	"54628009"	"del"	"0"	"00000"	"PRPF31_000074"	"g.54628008_54628009del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.828_829del, p.(His276Glnfs*2)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124629_54124630del"	""	"pathogenic (dominant)"	""
"0000905117"	"0"	"90"	"19"	"54627950"	"54627950"	"dup"	"0"	"00000"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.770dup, p.(Thr258Aspfs*21)"	"heterozygous"	"Germline/De novo (untested)"	"0"	""	"0"	""	""	"g.54124571dup"	""	"pathogenic (dominant)"	""
"0000905118"	"21"	"90"	"19"	"54627950"	"54627950"	"dup"	"0"	"00000"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.770dup, p.(Thr258Aspfs*21)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124571dup"	""	"pathogenic (dominant)"	""
"0000905119"	"11"	"90"	"19"	"54627950"	"54627950"	"dup"	"0"	"00000"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.770dup, p.(Thr258Aspfs*21)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54124571dup"	""	"pathogenic (dominant)"	""
"0000905120"	"11"	"90"	"19"	"54602946"	"54635178"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54602946_54635178del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 del chr19:54602946-54635178, deletion of OSCAR (E1 to E2), NDUFA3, TFPT and PRPF31"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54099655_54131887del"	""	"pathogenic (dominant)"	""
"0000905121"	"0"	"90"	"19"	"54602946"	"54635178"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54602946_54635178del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 del chr19:54602946-54635178, deletion of OSCAR (E1 to E2), NDUFA3, TFPT and PRPF31"	"heterozygous"	"Germline/De novo (untested)"	"0"	""	"0"	""	""	"g.54099655_54131887del"	""	"pathogenic (dominant)"	""
"0000905122"	"10"	"90"	"19"	"54621606"	"54626745"	"dup"	"0"	"00000"	"PRPF31_000159"	"g.54621606_54626745dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 dup chr19:54621606-54626745, duplication of PRPF31 (E2 to E5"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118226_54123366dup"	""	"pathogenic (dominant)"	""
"0000905123"	"11"	"90"	"19"	"54621606"	"54626745"	"dup"	"0"	"00000"	"PRPF31_000159"	"g.54621606_54626745dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 dup chr19:54621606-54626745, duplication of PRPF31 (E2 to E5"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54118226_54123366dup"	""	"pathogenic (dominant)"	""
"0000905124"	"10"	"90"	"19"	"54602946"	"54632693"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54602946_54632693del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 del chr19:54602946-54632693, deletion of OSCAR (E1 to E2), NDUFA3, TFPT, and PRPF31 (E1 to 13)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54099655_54129402del"	""	"pathogenic (dominant)"	""
"0000905125"	"21"	"90"	"19"	"54602946"	"54632693"	"del"	"0"	"00000"	"PRPF31_000156"	"g.54602946_54632693del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 del chr19:54602946-54632693, deletion of OSCAR (E1 to E2), NDUFA3, TFPT, and PRPF31 (E1 to 13)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54099655_54129402del"	""	"pathogenic (dominant)"	""
"0000905126"	"20"	"90"	"19"	"54629986"	"54629986"	"dup"	"0"	"00000"	"PRPF31_000133"	"g.54629986dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.939dup, p.(Gly314Argfs*10)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126611dup"	""	"pathogenic (dominant)"	""
"0000905127"	"10"	"90"	"19"	"54629986"	"54629986"	"dup"	"0"	"00000"	"PRPF31_000133"	"g.54629986dup"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.939dup, p.(Gly314Argfs*10)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126611dup"	""	"pathogenic (dominant)"	""
"0000905128"	"21"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.895T>C, p.(Cys299Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126567T>C"	""	"pathogenic (dominant)"	""
"0000905129"	"21"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.895T>C, p.(Cys299Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126567T>C"	""	"pathogenic (dominant)"	""
"0000905130"	"21"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.895T>C, p.(Cys299Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126567T>C"	""	"pathogenic (dominant)"	""
"0000905131"	"0"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.895T>C, p.(Cys299Arg)"	"heterozygous"	"Germline/De novo (untested)"	"0"	""	"0"	""	""	"g.54126567T>C"	""	"pathogenic (dominant)"	""
"0000905132"	"11"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.895T>C, p.(Cys299Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54126567T>C"	""	"pathogenic (dominant)"	""
"0000905133"	"11"	"90"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.541G>T, p.(Glu181*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123762G>T"	""	"pathogenic (dominant)"	""
"0000905134"	"20"	"90"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.541G>T, p.(Glu181*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54123762G>T"	""	"pathogenic (dominant)"	""
"0000905135"	"10"	"90"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.1146+2T>C, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128379T>C"	""	"pathogenic (dominant)"	""
"0000905136"	"10"	"90"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.1146+2T>C, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.54128379T>C"	""	"pathogenic (dominant)"	""
"0000905137"	"20"	"90"	"19"	"54626940"	"54626940"	"subst"	"0"	"00000"	"PRPF31_000090"	"g.54626940G>T"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.527+1G>T, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54123561G>T"	""	"pathogenic (dominant)"	""
"0000905138"	"20"	"90"	"19"	"54618828"	"54619055"	"del"	"0"	"00000"	"PRPF31_000158"	"g.54618828_54619055del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 del chr19:54618828-54619055, deletion of PRPF31 (E1)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54115448_54115675del"	""	"pathogenic (dominant)"	""
"0000905139"	"10"	"90"	"19"	"54631679"	"54631679"	"subst"	"0"	"00000"	"PRPF31_000163"	"g.54631679G>T"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.1074-1G>T, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54128304G>T"	""	"pathogenic (dominant)"	""
"0000905140"	"20"	"90"	"19"	"54625326"	"54625329"	"del"	"0"	"00000"	"PRPF31_000115"	"g.54625326_54625329del"	""	"{PMID:Martin-Merida 2017:28192796}"	""	"PRPF31 c.322+4_322+7del, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54121947_54121950del"	""	"pathogenic (dominant)"	""
"0000905156"	"21"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG2"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905157"	"10"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG3"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905158"	"10"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG4"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905159"	"11"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG5"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905160"	"11"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG6"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905161"	"11"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG7"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905162"	"11"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG8"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905163"	"10"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG9"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905164"	"10"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG10"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905165"	"10"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG11"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905166"	"10"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG12"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905167"	"11"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG13"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905168"	"21"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG14"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905169"	"11"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG15"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905170"	"21"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG16"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905171"	"21"	"90"	"19"	"54126538"	"54126551"	"del"	"0"	"00000"	"PRPF31_000077"	"g.54126538_54126551del"	""	"{PMID:Villanueva 2014:24595387}"	""	"PRPF31 p.Arg289fs"	"heterozygous; no nucleotide annotation, extrapolated from protein and databases; consistent set of genotypes at four cis-eQTL SNPs that were shared uniquely by all 10 affected symptomatic individuals on the same chromosome as the p.Arg289Profs*30 deletion, but none correlated with the expression of PRPF31, CNOT3, or LENG17"	"Germline"	"yes"	""	"0"	""	""	"g.54629913_54629926del"	""	"pathogenic (dominant)"	""
"0000905192"	"20"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905193"	"21"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905194"	"21"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905195"	"21"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905196"	"20"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905197"	"10"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905198"	"21"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905199"	"10"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905200"	"20"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905201"	"10"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905202"	"20"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905203"	"20"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905204"	"11"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905205"	"11"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905206"	"10"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905207"	"11"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905208"	"11"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905209"	"11"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905210"	"11"	"70"	"19"	"54629966"	"54629966"	"dup"	"0"	"00000"	"PRPF31_000318"	"g.54629966dup"	""	"{PMID:Lu 2013:24244300}"	""	"PRPF31 c.920_920_insA, p.S307fs"	"heterozygous; error in annotation, from the sequence it is visible that A in the position 919 is duplicated, not inserted after position 920"	"Germline"	"yes"	""	"0"	""	""	"g.54126591dup"	""	"likely pathogenic (dominant)"	""
"0000905211"	"20"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905212"	"21"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905213"	"20"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905214"	"11"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905215"	"11"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905216"	"20"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905217"	"11"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905218"	"20"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion"	"heterozygous; breakpoints sequenced, but no precise locus described"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (dominant)"	""
"0000905219"	"0"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 c.1215delG (p.G405fs+7X)"	"heterozygous; error in annotation, first affected amino acid rule shifts it to p.(Arg406Valfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic (dominant)"	""
"0000905220"	"11"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 c.1215delG (p.G405fs+7X)"	"heterozygous; error in annotation, first affected amino acid rule shifts it to p.(Arg406Valfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic (dominant)"	""
"0000905221"	"11"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 c.1215delG (p.G405fs+7X)"	"heterozygous; error in annotation, first affected amino acid rule shifts it to p.(Arg406Valfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic (dominant)"	""
"0000905222"	"0"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 c.1215delG (p.G405fs+7X)"	"heterozygous; error in annotation, first affected amino acid rule shifts it to p.(Arg406Valfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic (dominant)"	""
"0000905223"	"11"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 c.1215delG (p.G405fs+7X)"	"heterozygous; error in annotation, first affected amino acid rule shifts it to p.(Arg406Valfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic (dominant)"	""
"0000905224"	"11"	"90"	"19"	"54632500"	"54632500"	"del"	"0"	"00000"	"PRPF31_000257"	"g.54632500del"	""	"{PMID:Dong 2013:24319336}"	""	"PRPF31 c.1215delG (p.G405fs+7X)"	"heterozygous; error in annotation, first affected amino acid rule shifts it to p.(Arg406Valfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.54129125del"	""	"pathogenic (dominant)"	""
"0000905227"	"20"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905228"	"20"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905229"	"20"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905230"	"21"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905231"	"21"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905232"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905233"	"21"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905234"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905235"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905236"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905237"	"11"	"70"	"19"	"54625911"	"54625912"	"del"	"0"	"00000"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Yang 2015:23834559}"	""	"PRPF31 c.358-359 del AA"	"heterozygous; no protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.54122532_54122533del"	""	"likely pathogenic (dominant)"	""
"0000905703"	"0"	"70"	"19"	"0"	"0"	"del"	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Vithana 2001:11545739}"	""	"IVS6-3_-45del"	"0/100 controls"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905704"	"0"	"70"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Vithana 2001:11545739}"	""	"IVS63A>G"	"0/100 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905705"	"0"	"70"	"19"	"54627246"	"54627246"	"subst"	"0"	"00000"	"PRPF31_000310"	"g.54627246G>C"	""	"{PMID:Vithana 2001:11545739}"	""	"646G>C"	"0/100 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905706"	"0"	"70"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2001:11545739}"	""	"1115–1125del"	"0/100 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905707"	"0"	"70"	"19"	"54627182"	"54627183"	"dup"	"0"	"00000"	"PRPF31_000308"	"g.54627182_54627183dup"	""	"{PMID:Vithana 2001:11545739}"	""	"580–581dup33bp"	"0/100 controls"	"De novo"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905708"	"0"	"70"	"19"	"54627181"	"54627181"	"subst"	"0"	"00000"	"PRPF31_000307"	"g.54627181C>A"	""	"{PMID:Vithana 2001:11545739}"	""	"581C>A"	"0/100 controls"	"De novo"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905709"	"0"	"70"	"19"	"54627950"	"54627950"	"dup"	"0"	"00000"	"PRPF31_000073"	"g.54627950dup"	""	"{PMID:Vithana 2001:11545739}"	""	"769–770insA"	"0/100 controls"	"De novo"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905710"	"0"	"90"	"19"	"54626832"	"54626832"	"subst"	"0"	"00000"	"PRPF31_000085"	"g.54626832G>A"	""	"{PMID:Xia 2004:15162096}"	""	"IVS5-1G>A"	"0/50 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905711"	"0"	"90"	"19"	"54625884"	"54625895"	"del"	"0"	"00000"	"PRPF31_000301"	"g.54625884_54625895del"	""	"{PMID:Wang 2003:12923864}"	""	"12-bp deletion (deletion of H111K112F113I114 amino acids)"	"0/100 controls; 0/11 unaffected family members"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905712"	"0"	"90"	"19"	"54631748"	"54631748"	"del"	"0"	"00000"	"PRPF31_000320"	"g.54631748delG"	""	"{PMID:Sato 2005:16139010}"	""	"1142delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905713"	"0"	"90"	"19"	"54632440"	"54632444"	"delins"	"0"	"00000"	"PRPF31_000322"	"g.54632440_54632444delinsAGGGATT"	""	"{PMID:Sato 2005:16139010}"	""	"1155–1159delGGACG/insAGGGATT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905714"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Sato 2005:16139010}"	""	"IVS6 to 3 to -45del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905715"	"0"	"90"	"19"	"54631748"	"54631748"	"del"	"0"	"00000"	"PRPF31_000320"	"g.54631748delG"	""	"{PMID:Sato 2005:16139010}"	""	"1142delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905716"	"0"	"90"	"19"	"54632440"	"54632444"	"delins"	"0"	"00000"	"PRPF31_000322"	"g.54632440_54632444delinsAGGGATT"	""	"{PMID:Sato 2005:16139010}"	""	"1155–1159delGGACG/insAGGGATT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905717"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Abu Safieh 2006:16636657}"	""	"~30kb deletion"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905718"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Abu Safieh 2006:16636657}"	""	"~30kb deletion"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905719"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Abu Safieh 2006:16636657}"	""	"~30kb deletion"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905720"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Abu Safieh 2006:16636657}"	""	"~30kb deletion"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905721"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905722"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905723"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905724"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905725"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905726"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905727"	"0"	"90"	"19"	"54631749"	"54631749"	"del"	"0"	"00000"	"PRPF31_000321"	"g.54631749delG"	""	"{PMID:Taira 2007:17295140}"	""	"c.1143delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905728"	"0"	"70"	"19"	"54621737"	"54621737"	"subst"	"0"	"00000"	"PRPF31_000297"	"g.54621737G>T"	""	"{PMID:Waseem 2007:17325180}"	""	"c.79G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905729"	"0"	"70"	"19"	"54625965"	"54625965"	"subst"	"0"	"00000"	"PRPF31_000303"	"g.54625965C>A"	""	"{PMID:Waseem 2007:17325180}"	""	"c.412C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905730"	"0"	"70"	"19"	"54625965"	"54625965"	"subst"	"0"	"00000"	"PRPF31_000303"	"g.54625965C>A"	""	"{PMID:Waseem 2007:17325180}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905731"	"0"	"70"	"19"	"54625965"	"54625965"	"subst"	"0"	"00000"	"PRPF31_000303"	"g.54625965C>A"	""	"{PMID:Waseem 2007:17325180}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905732"	"0"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Waseem 2007:17325180}"	""	"c.527+3A>G"	"0/192 white controls"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905733"	"0"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Waseem 2007:17325180}"	""	"c.527+3A>G"	"0/192 white controls"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905734"	"0"	"70"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	""	"{PMID:Waseem 2007:17325180}"	""	"c.1146+2T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905735"	"0"	"70"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	""	"{PMID:Waseem 2007:17325180}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905736"	"0"	"70"	"19"	"54631754"	"54631754"	"subst"	"0"	"00000"	"PRPF31_000134"	"g.54631754T>C"	""	"{PMID:Waseem 2007:17325180}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905737"	"0"	"70"	"19"	"54627127"	"54627127"	"subst"	"0"	"00000"	"PRPF31_000104"	"g.54627127G>A"	""	"{PMID:Waseem 2007:17325180}"	""	"c.528-1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905738"	"0"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Waseem 2007:17325180}"	""	"c.527+3A>G"	"0/192 white controls"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905739"	"0"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Waseem 2007:17325180}"	""	"c.527+3A>G"	"0/192 white controls"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905740"	"0"	"90"	"19"	"54626942"	"54626942"	"subst"	"0"	"00000"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Waseem 2007:17325180}"	""	"c.527+3A>G"	"0/192 white controls"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905741"	"0"	"70"	"19"	"54626934"	"54626949"	"del"	"0"	"00000"	"PRPF31_000304"	"g.54626934_54626949del"	""	"{PMID:Ghazawy 2007:17895420}"	""	"c.522-527del&IVS6+1to+10del13"	"0/120 caucasian controls"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905742"	"0"	"70"	"19"	"54619178"	"54619178"	"subst"	"0"	"00000"	"PRPF31_000295"	"g.54619178G>T"	""	"{PMID:Liu 2008:18177735}"	""	"IVS1+1G>T (isoform 1)"	"0/200 controls and 0/18 unaffected family members"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905743"	"0"	"70"	"19"	"54619178"	"54619178"	"subst"	"0"	"00000"	"PRPF31_000295"	"g.54619178G>T"	""	"{PMID:Liu 2008:18177735}"	""	"IVS1+1G>T (isoform 2)"	"0/200 controls and 0/18 unaffected family members"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905746"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Aleman 2009:18704120}"	""	"Leu107del4 ctGAGT"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905747"	"0"	"70"	"19"	"54628040"	"54628040"	"subst"	"0"	"00000"	"PRPF31_000314"	"g.54628040G>A"	""	"{PMID:Cao 2020:33085829}"	""	"c.855+5G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905748"	"0"	"70"	"19"	"54628040"	"54628040"	"subst"	"0"	"00000"	"PRPF31_000314"	"g.54628040G>A"	""	"{PMID:Cao 2020:33085829}"	""	"c.855+5G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905749"	"0"	"70"	"19"	"54628040"	"54628040"	"subst"	"0"	"00000"	"PRPF31_000314"	"g.54628040G>A"	""	"{PMID:Cao 2020:33085829}"	""	"c.855+5G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905750"	"0"	"70"	"19"	"54628040"	"54628040"	"subst"	"0"	"00000"	"PRPF31_000314"	"g.54628040G>A"	""	"{PMID:Cao 2020:33085829}"	""	"c.855+5G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905751"	"0"	"70"	"19"	"54628040"	"54628040"	"subst"	"0"	"00000"	"PRPF31_000314"	"g.54628040G>A"	""	"{PMID:Cao 2020:33085829}"	""	"c.855+5G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905752"	"0"	"70"	"19"	"54628040"	"54628040"	"subst"	"0"	"00000"	"PRPF31_000314"	"g.54628040G>A"	""	"{PMID:Cao 2020:33085829}"	""	"c.855+5G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905753"	"0"	"70"	"19"	"54628029"	"54628035"	"del"	"0"	"00000"	"PRPF31_000313"	"g.54628029_54628035del"	""	"{PMID:Cao 2020:33085829}"	""	"c.849_855del (p.Pro284Ilefs*35)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905754"	"0"	"70"	"19"	"54628029"	"54628035"	"del"	"0"	"00000"	"PRPF31_000313"	"g.54628029_54628035del"	""	"{PMID:Cao 2020:33085829}"	""	"c.849_855del (p.Pro284Ilefs*35)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905755"	"0"	"70"	"19"	"54628029"	"54628035"	"del"	"0"	"00000"	"PRPF31_000313"	"g.54628029_54628035del"	""	"{PMID:Cao 2020:33085829}"	""	"c.849_855del (p.Pro284Ilefs*35)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905756"	"0"	"70"	"19"	"54628029"	"54628035"	"del"	"0"	"00000"	"PRPF31_000313"	"g.54628029_54628035del"	""	"{PMID:Cao 2020:33085829}"	""	"c.849_855del (p.Pro284Ilefs*35)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905757"	"0"	"70"	"19"	"54621836"	"54621836"	"del"	"0"	"00000"	"PRPF31_000166"	"g.54621836delG"	""	"{PMID:RioFrio 2008:18317597}"	""	"IVS2+1delG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905758"	"0"	"70"	"19"	"54625319"	"54625319"	"subst"	"0"	"00000"	"PRPF31_000167"	"g.54625319C>G"	""	"{PMID:RioFrio 2008:18317597}"	""	"Leu107Val (CTG>GTG)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905759"	"0"	"70"	"19"	"54625874"	"54625874"	"subst"	"0"	"00000"	"PRPF31_000168"	"g.54625874A>G"	""	"{PMID:RioFrio 2008:18317597}"	""	"IVS4-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905760"	"0"	"70"	"19"	"54629901"	"54629901"	"subst"	"0"	"00000"	"PRPF31_000170"	"g.54629901A>G"	""	"{PMID:RioFrio 2008:18317597}"	""	"IVS8-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905761"	"0"	"70"	"19"	"54629901"	"54629901"	"subst"	"0"	"00000"	"PRPF31_000170"	"g.54629901A>G"	""	"{PMID:RioFrio 2008:18317597}"	""	"IVS8-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905762"	"0"	"70"	"19"	"54629924"	"54629957"	"del"	"0"	"00000"	"PRPF31_000316"	"g.54629924_54629957del"	""	"{PMID:RioFrio 2008:18317597}"	""	"Arg293(34-bp del)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905763"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Ko?hn 2009:19050727}"	""	"59 kb genomic deletion (intron 11 of the PRPF31 gene and in LOC441864)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905764"	"0"	"70"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Ko?hn 2009:19050727}"	""	"59 kb genomic deletion (intron 11 of the PRPF31 gene and in LOC441864)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905765"	"0"	"70"	"19"	"54621971"	"54621972"	"del"	"0"	"00000"	"PRPF31_000298"	"g.54621971_54621972del"	""	"{PMID:Xu 2012:23288994}"	""	"c.196_197delAA"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905766"	"0"	"70"	"19"	"54627144"	"54627218"	"del"	"0"	"00000"	"PRPF31_000306"	"g.54627144_54627218del"	""	"{PMID:Xu 2012:23288994}"	""	"c.544_618del75 bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905767"	"0"	"70"	"19"	"54627215"	"54627215"	"del"	"0"	"00000"	"PRPF31_000309"	"g.54627215delC"	""	"{PMID:Xu 2012:23288994}"	""	"c.615delC"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905768"	"0"	"70"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Xu 2012:23288994}"	""	"c.895T>C [7]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905769"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Pomares 2010:19584904}"	""	"c.541G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905770"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Pomares 2010:19584904}"	""	"c.541G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905771"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Pomares 2010:19584904}"	""	"c.541G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905772"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Pomares 2010:19584904}"	""	"c.541G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905773"	"0"	"70"	"19"	"54627141"	"54627141"	"subst"	"0"	"00000"	"PRPF31_000105"	"g.54627141G>T"	""	"{PMID:Pomares 2010:19584904}"	""	"c.541G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905774"	"0"	"70"	"19"	"54633399"	"54633399"	"subst"	"0"	"00000"	"PRPF31_000059"	"g.54633399C>G"	""	"{PMID:RioFrio 2009:19618371}"	""	"c.1374+654C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905775"	"0"	"70"	"19"	"54633399"	"54633399"	"subst"	"0"	"00000"	"PRPF31_000059"	"g.54633399C>G"	""	"{PMID:RioFrio 2009:19618371}"	""	"c.1374+654C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000905776"	"0"	"90"	"19"	"54625269"	"54625273"	"del"	"0"	"00000"	"PRPF31_000300"	"g.54625269_54625273del"	""	"{PMID:Audo 2010:20939871}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905777"	"0"	"90"	"19"	"54626941"	"54626941"	"subst"	"0"	"00000"	"PRPF31_000305"	"g.54626941T>C"	""	"{PMID:Audo 2010:20939871}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905778"	"0"	"90"	"19"	"54627266"	"54627266"	"dup"	"0"	"00000"	"PRPF31_000169"	"g.54627266dup"	""	"{PMID:Audo 2010:20939871}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905779"	"0"	"90"	"19"	"54627889"	"54627914"	"dup"	"0"	"00000"	"PRPF31_000311"	"g.54627889_54627914dup"	""	"{PMID:Audo 2010:20939871}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905780"	"0"	"90"	"19"	"54629920"	"54629944"	"dup"	"0"	"00000"	"PRPF31_000315"	"g.54629920_54629944dup"	""	"{PMID:Audo 2010:20939871}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905781"	"0"	"90"	"19"	"54631499"	"54631499"	"del"	"0"	"00000"	"PRPF31_000203"	"g.54631499del"	""	"{PMID:Audo 2010:20939871}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905782"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905783"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905784"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"no"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905785"	"0"	"10"	"19"	"54625930"	"54625930"	"subst"	"0"	"00000"	"PRPF31_000302"	"g.54625930T>C"	""	"{PMID:Saini 2012:23041261}"	""	"T>C in intron 1 at +377"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000905786"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905787"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905788"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905789"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905790"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905791"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905792"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905793"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905794"	"0"	"90"	"19"	"54621717"	"54621723"	"del"	"0"	"00000"	"PRPF31_000296"	"g.54621717_54621723del"	""	"{PMID:Saini 2012:23041261}"	""	"c.59_65del7 (p.Gly20AlafsX43)"	"0/100 healthy controls from the same ethnic group"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905795"	"0"	"90"	"19"	"54629961"	"54629962"	"ins"	"0"	"00000"	"PRPF31_000317"	"g.54629961_54629962insTGT"	""	"{PMID:Utz-2013:23343310}"	""	"c.914_915insTGT (p.Val305_Asp306insVal)"	"0/189 normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905796"	"0"	"90"	"19"	"54629961"	"54629962"	"ins"	"0"	"00000"	"PRPF31_000317"	"g.54629961_54629962insTGT"	""	"{PMID:Utz-2013:23343310}"	""	"c.914_915insTGT (p.Val305_Asp306insVal)"	"0/189 normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905797"	"0"	"90"	"19"	"54629961"	"54629962"	"ins"	"0"	"00000"	"PRPF31_000317"	"g.54629961_54629962insTGT"	""	"{PMID:Utz-2013:23343310}"	""	"c.914_915insTGT (p.Val305_Asp306insVal)"	"0/189 normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905798"	"0"	"90"	"19"	"54621971"	"54621972"	"del"	"0"	"00000"	"PRPF31_000298"	"g.54621971_54621972del"	""	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"c.196_197delAA"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905799"	"0"	"90"	"19"	"54627144"	"54627218"	"del"	"0"	"00000"	"PRPF31_000306"	"g.54627144_54627218del"	""	"{PMID:Yang 2020:32031697}"	""	"c.544_618del75"	"0/100 healthy control"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905800"	"0"	"90"	"19"	"54627144"	"54627218"	"del"	"0"	"00000"	"PRPF31_000306"	"g.54627144_54627218del"	""	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"c.544_618del75"	"0/100 healthy control"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905801"	"0"	"10"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"IVS6-78_IVS6-75del4CACA"	"21.5% healthy control, 31.4% of unaffected individuals in the family"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000905802"	"0"	"50"	"19"	"54627215"	"54627215"	"del"	"0"	"00000"	"PRPF31_000309"	"g.54627215delC"	""	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"c.615delC"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""
"0000905803"	"0"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"c.895T>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905804"	"0"	"90"	"19"	"54629942"	"54629942"	"subst"	"0"	"00000"	"PRPF31_000108"	"g.54629942T>C"	""	"{PMID:Yang 2020:32031697}, {PMID:Xu 2012:23288994}"	""	"c.895T>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905805"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905806"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905807"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905808"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905809"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905810"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905811"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905812"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905813"	"0"	"90"	"19"	"54631678"	"54631678"	"subst"	"0"	"00000"	"PRPF31_000245"	"g.54631678A>T"	""	"{PMID:Yang-2013:24202059}"	""	"c.1074-2 A>T; p.Y359SfsX29"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905814"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905815"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905816"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905817"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905818"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905819"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905820"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905821"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905822"	"0"	"90"	"19"	"54628004"	"54628005"	"ins"	"0"	"00000"	"PRPF31_000312"	"g.54628004_54628005insA"	""	"{PMID:Yang-2013:24202059}"	""	"c.824_825insA; p.Y275X"	"0/100 matched normal controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905823"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905824"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905825"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905826"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905827"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905828"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905829"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905830"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905831"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905832"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905833"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905834"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905835"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905836"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905837"	"0"	"90"	"19"	"54631721"	"54631731"	"del"	"0"	"00000"	"PRPF31_000319"	"g.54631721_54631731del"	""	"{PMID:Vithana 2003:14507862}"	""	"(1115–1125 del)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905957"	"0"	"70"	"19"	"54625240"	"54625241"	"ins"	"0"	"00000"	"PRPF31_000299"	"g.54625240_54625241insT"	""	"{PMID:Zhu 2022:35456422}"	""	"PRPF31 c.240_24insT, p.Met81TyrfsTer9"	"error in annotation c.240_24insT should be c.240_241insT, heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54121861_54121862insT"	""	"likely pathogenic"	"ACMG"
"0000905958"	"0"	"70"	"19"	"54625240"	"54625241"	"ins"	"0"	"00000"	"PRPF31_000299"	"g.54625240_54625241insT"	""	"{PMID:Zhu 2022:35456422}"	""	"PRPF31 c.240_24insT, p.Met81TyrfsTer9"	"error in annotation c.240_24insT should be c.240_241insT, heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.54121861_54121862insT"	""	"likely pathogenic"	"ACMG"
"0000915820"	"0"	"70"	"19"	"54633399"	"54633399"	"subst"	"0"	"04436"	"PRPF31_000059"	"g.54633399C>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1374+654C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000915912"	"0"	"70"	"19"	"54631748"	"54631748"	"del"	"0"	"04436"	"PRPF31_000320"	"g.54631748del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1142del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000915941"	"0"	"90"	"19"	"54625888"	"54625888"	"del"	"0"	"04436"	"PRPF31_000324"	"g.54625888del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.335del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915964"	"0"	"70"	"19"	"54626942"	"54626942"	"subst"	"0"	"04436"	"PRPF31_000120"	"g.54626942A>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.527+3A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916002"	"0"	"70"	"19"	"54627089"	"54627131"	"del"	"0"	"04436"	"PRPF31_000187"	"g.54627089_54627131del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.528-39_531del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916019"	"0"	"90"	"19"	"54625912"	"54625912"	"del"	"0"	"04436"	"PRPF31_000325"	"g.54625912del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.359del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916023"	"0"	"90"	"19"	"54625912"	"54625912"	"del"	"0"	"04436"	"PRPF31_000325"	"g.54625912del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.359del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916089"	"0"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"04436"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1060C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916132"	"0"	"90"	"19"	"54634825"	"54634835"	"del"	"0"	"04436"	"PRPF31_000165"	"g.54634825_54634835del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1462_1472del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916208"	"0"	"70"	"19"	"0"	"0"	""	"0"	"04436"	"NPHS1_000138"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(238+1_239-1)_(1374+1_1375-1)del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916248"	"0"	"90"	"19"	"54625245"	"54625246"	"del"	"0"	"04436"	"PRPF31_000323"	"g.54625245_54625246del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.245_246del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916379"	"0"	"70"	"19"	"54634825"	"54634835"	"del"	"0"	"04436"	"PRPF31_000165"	"g.54634825_54634835del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1462_1472del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916404"	"0"	"70"	"19"	"54631683"	"54631683"	"subst"	"0"	"04436"	"PRPF31_000112"	"g.54631683C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1077C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916471"	"0"	"70"	"19"	"54631442"	"54631468"	"del"	"0"	"04436"	"PRPF31_000326"	"g.54631442_54631468del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.946-6_966del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916617"	"0"	"90"	"19"	"54627215"	"54627215"	"subst"	"0"	"04436"	"PRPF31_000140"	"g.54627215C>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.615C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000926941"	"0"	"30"	"19"	"54621934"	"54621934"	"subst"	"5.27897E-5"	"02330"	"PRPF31_000327"	"g.54621934G>C"	""	""	""	"PRPF31(NM_015629.4):c.178-19G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000931569"	"1"	"90"	"19"	"54625881"	"54625883"	"del"	"0"	"00006"	"PRPF31_000161"	"g.54625881_54625883del"	""	"{PMID:De Sousa Dias 2013:23559859}"	""	"g.7092_7094delATC"	""	"Germline"	"yes"	""	"0"	""	""	"g.54122502_54122504del"	""	"pathogenic (dominant)"	""
"0000944538"	"0"	"90"	"19"	"54609771"	"54636572"	"del"	"0"	"04542"	"PRPF31_000328"	"g.54609771_54636572del"	""	"{PMID:Fadaie 2021:34795310}, {PMID:De Bruijn 2023:36524988}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54106454_54133135del"	""	"pathogenic (dominant)"	""
"0000944539"	"0"	"90"	"19"	"54620083"	"54625247"	"del"	"0"	"04542"	"PRPF31_000329"	"g.54620083_54625247del"	""	"{PMID:De Bruijn 2023:36524988}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54116703_54121868del"	""	"pathogenic (dominant)"	"ACMG"
"0000951359"	"0"	"30"	"19"	"54625227"	"54625227"	"subst"	"0.000407873"	"02330"	"PRPF31_000330"	"g.54625227G>A"	""	""	""	"PRPF31(NM_015629.4):c.239-12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000955404"	"0"	"90"	"19"	"54618460"	"54625141"	"del"	"0"	"00006"	"PRPF31_000331"	"g.54618460_54625141del"	""	"{PMID:de Bruijn 2023:36524988}"	""	"-726_239-98del"	""	"Germline"	""	""	"0"	""	""	"g.54115080_54121762del"	""	"pathogenic (dominant)"	""
"0000957990"	"0"	"90"	"19"	"54625237"	"54625237"	"subst"	"0"	"00006"	"PRPF31_000262"	"g.54625237A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_STRONG, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.54121858A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000957994"	"1"	"70"	"19"	"54627731"	"54636213"	"del"	"0"	"00006"	"PRPF31_000156"	"g.54627731_54636213del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000957995"	"1"	"90"	"19"	"54625911"	"54625912"	"del"	"0"	"00006"	"PRPF31_000178"	"g.54625911_54625912del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54122532_54122533del"	"1275773"	"pathogenic (dominant)"	"ACMG"
"0000958002"	"21"	"90"	"19"	"54621992"	"54621992"	"subst"	"0"	"00006"	"PRPF31_000087"	"g.54621992A>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54118612A>T"	""	"pathogenic (dominant)"	"ACMG"
"0000958004"	"0"	"90"	"19"	"54622528"	"54633821"	"del"	"0"	"00006"	"PRPF31_000333"	"g.54622528_54633821del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54119148_54130390del"	""	"pathogenic (dominant)"	"ACMG"
"0000958005"	"1"	"90"	"19"	"54631446"	"54631446"	"subst"	"0"	"00006"	"PRPF31_000075"	"g.54631446A>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54128071A>C"	""	"pathogenic (dominant)"	"ACMG"
"0000958006"	"1"	"90"	"19"	"54622528"	"54633821"	"del"	"0"	"00006"	"PRPF31_000333"	"g.54622528_54633821del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54119148_54130390del"	""	"pathogenic (dominant)"	"ACMG"
"0000958007"	"0"	"90"	"19"	"54615301"	"54637092"	"del"	"0"	"00006"	"PRPF31_000156"	"g.54615301_54637092del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	"ACMG"
"0000958009"	"0"	"90"	"19"	"54617756"	"54622314"	"del"	"0"	"00006"	"PRPF31_000156"	"g.54617756_54622314del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	"ACMG"
"0000958018"	"1"	"90"	"19"	"54625948"	"54625948"	"del"	"0"	"00006"	"PRPF31_000336"	"g.54625948del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54122569del"	""	"pathogenic"	"ACMG"
"0000958019"	"11"	"90"	"19"	"54631732"	"54631735"	"dup"	"0"	"00006"	"PRPF31_000340"	"g.54631732_54631735dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54128357_54128360dup"	"1184921"	"pathogenic (dominant)"	"ACMG"
"0000958022"	"1"	"70"	"19"	"54634825"	"54634835"	"del"	"0"	"00006"	"PRPF31_000165"	"g.54634825_54634835del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_MODERATE, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.54131394_54131404del"	"1275813"	"likely pathogenic"	"ACMG"
"0000958084"	"0"	"90"	"19"	"54624619"	"54633991"	"del"	"0"	"00006"	"PRPF31_000335"	"g.54624619_54633991del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.54121240_54130560del"	""	"pathogenic (dominant)"	"ACMG"
"0000958322"	"0"	"70"	"19"	"54616521"	"54620566"	"delins"	"0"	"00006"	"PRPF31_000156"	"g.54616521_54620566delinsTGTA"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000958337"	"0"	"70"	"19"	"54602638"	"54636555"	"del"	"0"	"00006"	"PRPF31_000156"	"g.54602638_54636555del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	""	"na"	"likely pathogenic (dominant)"	"ACMG"
"0000958349"	"0"	"70"	"19"	"54632561"	"54632561"	"subst"	"0"	"00006"	"PRPF31_000341"	"g.54632561G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_STRONG"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54129186G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000958370"	"0"	"90"	"19"	"54631754"	"54631754"	"subst"	"0"	"00006"	"PRPF31_000070"	"g.54631754T>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54128379T>G"	""	"pathogenic (dominant)"	"ACMG"
"0000958381"	"0"	"70"	"19"	"54622718"	"54634011"	"del"	"0"	"00006"	"PRPF31_000334"	"g.54622718_54634011del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54119338_54130580del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000958382"	"0"	"70"	"19"	"54629943"	"54629943"	"subst"	"0"	"00006"	"PRPF31_000293"	"g.54629943G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PP2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54126568G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000958932"	"0"	"50"	"19"	"54627174"	"54627174"	"subst"	"0.000114668"	"00006"	"PRPF31_000337"	"g.54627174G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2, BP6"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54123795G>A"	""	"VUS"	"ACMG"
"0000958935"	"3"	"50"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"00006"	"PRPF31_000019"	"g.54631580G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2"	"Germline"	""	""	"0"	""	""	"g.54128205G>A"	""	"VUS"	"ACMG"
"0000958937"	"0"	"50"	"19"	"54629900"	"54629900"	"subst"	"0"	"00006"	"PRPF31_000339"	"g.54629900C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54126525C>G"	""	"VUS"	"ACMG"
"0000959255"	"0"	"50"	"19"	"54627973"	"54627973"	"subst"	"0"	"00006"	"PRPF31_000338"	"g.54627973A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2"	"Germline"	""	""	"0"	""	""	"g.54124594A>G"	""	"VUS"	"ACMG"
"0000959370"	"21"	"50"	"19"	"54618837"	"54618837"	"del"	"0"	"00006"	"PRPF31_000332"	"g.54618837del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.54115457del"	""	"VUS"	"ACMG"
"0000969887"	"0"	"70"	"19"	"54621735"	"54621736"	"ins"	"0"	"02327"	"PRPF31_000063"	"g.54621735_54621736insC"	""	""	""	"PRPF31(NM_015629.4):c.77_78insC (p.E26Dfs*32)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000969888"	"0"	"30"	"19"	"54629909"	"54629909"	"subst"	"1.24102E-5"	"02330"	"PRPF31_000347"	"g.54629909C>A"	""	""	""	"PRPF31(NM_015629.4):c.862C>A (p.R288=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983642"	"0"	"90"	"19"	"54627269"	"54627269"	"del"	"0"	"02327"	"PRPF31_000348"	"g.54627269del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000983643"	"0"	"30"	"19"	"54631580"	"54631580"	"subst"	"9.92156E-5"	"01804"	"PRPF31_000019"	"g.54631580G>A"	""	""	""	"PRPF31(NM_015629.3):c.1073+5G>A, PRPF31(NM_015629.4):c.1073+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015830"	"0"	"30"	"19"	"54631436"	"54631436"	"subst"	"9.68443E-5"	"02330"	"PRPF31_000349"	"g.54631436C>T"	""	""	""	"PRPF31(NM_015629.4):c.946-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001019652"	"0"	"90"	"19"	"54628864"	"54634046"	"del"	"0"	"00006"	"PRPF31_000350"	"g.54628864_54634046del"	""	"{PMID:Wen 2023:36811936}"	""	"del ex9-13"	""	"Germline"	""	""	"0"	""	""	"g.54125485_54130615del"	""	"pathogenic (dominant)"	""
"0001019653"	"11"	"90"	"19"	"54602540"	"54619462"	"del"	"0"	"00006"	"PRPF31_000351"	"g.54602540_54619462del"	""	"{PMID:Wen 2023:36811936}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.54099160_54116082del"	""	"pathogenic (dominant)"	""
"0001019654"	"0"	"90"	"19"	"54626548"	"54628930"	"del"	"0"	"00006"	"PRPF31_000352"	"g.54626548_54628930del"	""	"{PMID:Wen 2023:36811936}"	""	"del ex6-8"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.54123169_54125551del"	""	"pathogenic (dominant)"	""
"0001022277"	"1"	"90"	"19"	"54627173"	"54627173"	"subst"	"0"	"00006"	"PRPF31_000353"	"g.54627173C>A"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs764232082"	"0"	""	""	"g.54123794C>A"	""	"pathogenic"	""
"0001022279"	"1"	"90"	"19"	"54631562"	"54631562"	"subst"	"0"	"00006"	"PRPF31_000018"	"g.54631562C>T"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs868538598"	"0"	""	""	"g.54128187C>T"	""	"pathogenic"	""
"0001027266"	"0"	"70"	"19"	"54621952"	"54621952"	"subst"	"0"	"02330"	"PRPF31_000008"	"g.54621952G>A"	""	""	""	"PRPF31(NM_015629.4):c.178-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001043159"	"0"	"50"	"19"	"54627207"	"54627207"	"subst"	"1.22024E-5"	"01804"	"PRPF31_000355"	"g.54627207C>T"	""	""	""	"PRPF31(NM_015629.4):c.607C>T (p.(Arg203Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001043160"	"0"	"50"	"19"	"54632507"	"54632507"	"subst"	"1.05254E-5"	"01804"	"PRPF31_000096"	"g.54632507C>T"	""	""	""	"PRPF31(NM_015629.4):c.1222C>T (p.(Arg408Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001043161"	"0"	"30"	"19"	"54637655"	"54637656"	"del"	"0"	"01804"	"CNOT3_000049"	"g.54637655_54637656del"	""	""	""	"CNOT3(NM_014516.4):c.-4105_-4104del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes PRPF31
## Count = 915
"{{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}}"
"0000019482"	"00016902"	"90"	"636"	"0"	"636"	"0"	"c.636del"	"r.(?)"	"p.(Met212IlefsTer27)"	"7"
"0000019504"	"00016902"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	"8"
"0000019508"	"00016902"	"90"	"616"	"0"	"616"	"0"	"c.616G>T"	"r.(?)"	"p.(Glu206*)"	"7"
"0000060166"	"00016902"	"90"	"553"	"0"	"553"	"0"	"c.553G>T"	"r.(?)"	"p.(Glu185*)"	"7"
"0000060167"	"00016902"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	"9"
"0000170969"	"00016902"	"90"	"-8"	"-133"	"421"	"-27"	"c.-8-133_421-27dup"	"r.?"	"p.?"	"1i_5i"
"0000170970"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.(-9+1_-8-1)_(c.420+1_421-1)del"	"r.spl?"	"p.?"	"1i_5i"
"0000247641"	"00016902"	"50"	"917"	"0"	"917"	"0"	"c.917A>C"	"r.(?)"	"p.(Asp306Ala)"	""
"0000247644"	"00016902"	"50"	"325"	"0"	"325"	"0"	"c.325A>G"	"r.(?)"	"p.(Ile109Val)"	""
"0000294471"	"00016902"	"30"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.?"	""
"0000294472"	"00016902"	"90"	"238"	"1"	"238"	"1"	"c.238+1G>T"	"r.spl?"	"p.?"	""
"0000294473"	"00016902"	"10"	"323"	"-12"	"323"	"-12"	"c.323-12C>T"	"r.(=)"	"p.(=)"	""
"0000294474"	"00016902"	"10"	"527"	"9"	"527"	"9"	"c.527+9G>T"	"r.(=)"	"p.(=)"	""
"0000294475"	"00016902"	"10"	"856"	"-10"	"856"	"-10"	"c.856-10G>A"	"r.(=)"	"p.(=)"	""
"0000294476"	"00016902"	"50"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000297382"	"00016902"	"10"	"1147"	"-9"	"1147"	"-9"	"c.1147-9T>C"	"r.(=)"	"p.(=)"	""
"0000299126"	"00016902"	"90"	"178"	"-1"	"178"	"-1"	"c.178-1G>A"	"r.spl?"	"p.?"	""
"0000306458"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Ter)"	""
"0000306459"	"00016902"	"30"	"1074"	"-6"	"1074"	"-6"	"c.1074-6C>A"	"r.(=)"	"p.(=)"	""
"0000306460"	"00016902"	"90"	"1120"	"0"	"1120"	"0"	"c.1120C>T"	"r.(?)"	"p.(Gln374Ter)"	""
"0000306461"	"00016902"	"30"	"510"	"0"	"510"	"0"	"c.510C>T"	"r.(?)"	"p.(Thr170=)"	""
"0000306462"	"00016902"	"30"	"527"	"9"	"527"	"9"	"c.527+9G>T"	"r.(=)"	"p.(=)"	""
"0000306463"	"00016902"	"30"	"705"	"0"	"705"	"0"	"c.705C>T"	"r.(?)"	"p.(Ala235=)"	""
"0000306464"	"00016902"	"30"	"756"	"0"	"756"	"0"	"c.756C>T"	"r.(?)"	"p.(Leu252=)"	""
"0000306465"	"00016902"	"30"	"909"	"0"	"909"	"0"	"c.909C>T"	"r.(?)"	"p.(Ala303=)"	""
"0000338382"	"00016902"	"90"	"239"	"-1"	"239"	"-1"	"c.239-1G>A"	"r.spl?"	"p.?"	""
"0000338383"	"00016902"	"10"	"1147"	"-9"	"1147"	"-9"	"c.1147-9T>C"	"r.(=)"	"p.(=)"	""
"0000341246"	"00016902"	"50"	"581"	"0"	"581"	"0"	"c.581C>T"	"r.(?)"	"p.(Ala194Val)"	""
"0000342585"	"00016902"	"50"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000344050"	"00016902"	"50"	"916"	"0"	"916"	"0"	"c.916G>A"	"r.(?)"	"p.(Asp306Asn)"	""
"0000344727"	"00016902"	"90"	"841"	"0"	"841"	"0"	"c.841C>T"	"r.(?)"	"p.(Gln281Ter)"	""
"0000345080"	"00016902"	"90"	"34"	"0"	"34"	"0"	"c.34G>T"	"r.(?)"	"p.(Glu12Ter)"	""
"0000345203"	"00016902"	"90"	"553"	"0"	"553"	"0"	"c.553G>T"	"r.(?)"	"p.(Glu185Ter)"	""
"0000346971"	"00016902"	"50"	"584"	"0"	"584"	"0"	"c.584T>C"	"r.(?)"	"p.(Leu195Pro)"	""
"0000438686"	"00016902"	"90"	"-9"	"1"	"-9"	"1"	"c.-9+1G>A"	"r.spl"	"p.?"	""
"0000477316"	"00016902"	"50"	"251"	"0"	"251"	"0"	"c.251T>C"	"r.(?)"	"p.(Val84Ala)"	""
"0000477317"	"00016902"	"90"	"265"	"0"	"265"	"0"	"c.265G>T"	"r.(?)"	"p.(Glu89*)"	""
"0000477318"	"00016902"	"90"	"304"	"0"	"304"	"0"	"c.304G>T"	"r.(?)"	"p.(Glu102*)"	""
"0000477319"	"00016902"	"90"	"310"	"0"	"310"	"0"	"c.310G>T"	"r.(?)"	"p.(Glu104*)"	""
"0000477320"	"00016902"	"50"	"347"	"0"	"347"	"0"	"c.347A>G"	"r.(?)"	"p.(Asp116Gly)"	""
"0000477321"	"00016902"	"50"	"856"	"0"	"856"	"0"	"c.856G>T"	"r.(?)"	"p.(Asp286Tyr)"	""
"0000477322"	"00016902"	"50"	"955"	"0"	"955"	"0"	"c.955G>C"	"r.(?)"	"p.(Glu319Gln)"	""
"0000477323"	"00016902"	"90"	"1032"	"0"	"1032"	"0"	"c.1032dup"	"r.(?)"	"p.(Ala345Cysfs*130)"	""
"0000477324"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000477325"	"00016902"	"90"	"1140"	"0"	"1140"	"0"	"c.1140del"	"r.(?)"	"p.(Phe380Leufs*33)"	""
"0000477326"	"00016902"	"90"	"1154"	"0"	"1155"	"0"	"c.1154_1155insAG"	"r.(?)"	"p.(Asp386Glyfs*28)"	""
"0000477327"	"00016902"	"50"	"1159"	"0"	"1159"	"0"	"c.1159G>T"	"r.(?)"	"p.(Ala387Ser)"	""
"0000568359"	"00016902"	"50"	"247"	"0"	"247"	"0"	"c.247C>G"	"r.(?)"	"p.(Pro83Ala)"	""
"0000568360"	"00016902"	"10"	"420"	"7"	"420"	"7"	"c.420+7G>A"	"r.(=)"	"p.(=)"	""
"0000568361"	"00016902"	"50"	"560"	"0"	"560"	"0"	"c.560T>C"	"r.(?)"	"p.(Leu187Pro)"	""
"0000568362"	"00016902"	"50"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000568363"	"00016902"	"30"	"645"	"0"	"645"	"0"	"c.645C>T"	"r.(?)"	"p.(Ile215=)"	""
"0000568364"	"00016902"	"50"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000568365"	"00016902"	"30"	"1002"	"0"	"1002"	"0"	"c.1002G>A"	"r.(?)"	"p.(Pro334=)"	""
"0000568366"	"00016902"	"30"	"1074"	"-8"	"1074"	"-7"	"c.1074-8_1074-7del"	"r.(=)"	"p.(=)"	""
"0000568367"	"00016902"	"10"	"1098"	"0"	"1098"	"0"	"c.1098G>C"	"r.(?)"	"p.(Leu366=)"	""
"0000568368"	"00016902"	"70"	"1110"	"0"	"1117"	"0"	"c.1110_1117del"	"r.(?)"	"p.(Ile371AlafsTer101)"	""
"0000568369"	"00016902"	"10"	"1122"	"0"	"1122"	"0"	"c.1122G>A"	"r.(?)"	"p.(Gln374=)"	""
"0000568370"	"00016902"	"10"	"1146"	"16"	"1146"	"16"	"c.1146+16C>T"	"r.(=)"	"p.(=)"	""
"0000568371"	"00016902"	"90"	"1291"	"0"	"1291"	"0"	"c.1291C>T"	"r.(?)"	"p.(Gln431Ter)"	""
"0000568372"	"00016902"	"10"	"1416"	"0"	"1416"	"0"	"c.1416G>A"	"r.(?)"	"p.(Val472=)"	""
"0000568373"	"00016902"	"30"	"1461"	"0"	"1461"	"0"	"c.1461C>G"	"r.(?)"	"p.(Leu487=)"	""
"0000617851"	"00016902"	"30"	"273"	"0"	"273"	"0"	"c.273C>T"	"r.(?)"	"p.(Arg91=)"	""
"0000617852"	"00016902"	"30"	"1026"	"0"	"1026"	"0"	"c.1026G>A"	"r.(?)"	"p.(Pro342=)"	""
"0000617853"	"00016902"	"30"	"1074"	"-8"	"1074"	"-7"	"c.1074-8_1074-7del"	"r.(=)"	"p.(=)"	""
"0000617854"	"00016902"	"90"	"1114"	"0"	"1115"	"0"	"c.1114_1115insCTCC"	"r.(?)"	"p.(Arg372ProfsTer104)"	""
"0000617855"	"00016902"	"70"	"1374"	"654"	"1374"	"654"	"c.1374+654C>G"	"r.(=)"	"p.(=)"	""
"0000617856"	"00016902"	"30"	"1461"	"0"	"1461"	"0"	"c.1461C>G"	"r.(?)"	"p.(Leu487=)"	""
"0000624949"	"00016902"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.0?"	""
"0000624954"	"00016902"	"70"	"690"	"0"	"690"	"0"	"c.690del"	"r.(?)"	"p.(Ile231Serfs*8)"	""
"0000650052"	"00016902"	"30"	"564"	"0"	"564"	"0"	"c.564G>A"	"r.(=)"	"p.(=)"	""
"0000658657"	"00016902"	"70"	"77"	"0"	"78"	"0"	"c.77_78insC"	"r.(?)"	"p.(Glu26AspfsTer32)"	""
"0000658658"	"00016902"	"90"	"178"	"-1"	"178"	"-1"	"c.178-1G>A"	"r.spl?"	"p.?"	""
"0000664773"	"00016902"	"90"	"690"	"0"	"690"	"0"	"c.690del"	"r.(?)"	"p.(Ile231Serfs*8)"	""
"0000664774"	"00016902"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.0?"	""
"0000681507"	"00016902"	"30"	"1480"	"0"	"1480"	"0"	"c.1480A>G"	"r.(?)"	"p.(Ser494Gly)"	""
"0000683271"	"00016902"	"70"	"795"	"0"	"799"	"0"	"c.795_799del"	"r.(?)"	"p.(Ser266Alafs*11)"	""
"0000685364"	"00016902"	"90"	"-53"	"0"	"-9"	"0"	"c.-53_-9del"	"r.?"	"p.0?"	""
"0000685365"	"00016902"	"90"	"689"	"0"	"689"	"0"	"c.689del"	"r.(?)"	"p.(Lys230Argfs*9)"	""
"0000685366"	"00016902"	"90"	"697"	"1"	"697"	"1"	"c.697+1G>A"	"r.spl"	"p.?"	""
"0000685367"	"00016902"	"90"	"1108"	"0"	"1108"	"0"	"c.1108G>T"	"r.(?)"	"p.(Glu370*)"	""
"0000685830"	"00016902"	"70"	"1146"	"2"	"1146"	"2"	"c.1146+2T>G"	"r.spl"	"p.?"	""
"0000692881"	"00016902"	"90"	"418"	"0"	"418"	"0"	"c.418A>T"	"r.(?)"	"p.(Lys140Ter)"	""
"0000704021"	"00016902"	"70"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000704022"	"00016902"	"70"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000704023"	"00016902"	"70"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000704024"	"00016902"	"70"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000704025"	"00016902"	"70"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000704026"	"00016902"	"70"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000704027"	"00016902"	"70"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000704028"	"00016902"	"70"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000704029"	"00016902"	"90"	"732"	"0"	"737"	"0"	"c.732_737delins(20)"	"r.(?)"	"p.(Met244fs*248)"	"8"
"0000704030"	"00016902"	"90"	"732"	"0"	"737"	"0"	"c.732_737delins(20)"	"r.(?)"	"p.(Met244fs*248)"	"8"
"0000704190"	"00016902"	"70"	"946"	"-2"	"946"	"-2"	"c.946-2A>C"	"r.(?)"	"p.(?)"	""
"0000710286"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.(Arg289Profs*30)"	""
"0000710295"	"00016902"	"90"	"682"	"0"	"682"	"0"	"c.682G>C"	"r.(?)"	"p.(Ala228Pro)"	""
"0000710327"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.(Arg289Profs*30)"	""
"0000713299"	"00016902"	"90"	"357"	"0"	"357"	"0"	"c.357del"	"r.(?)"	"p.(Lys120Argfs*78)"	""
"0000713429"	"00016902"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.?"	"p.?"	""
"0000713463"	"00016902"	"90"	"837"	"0"	"838"	"0"	"c.837_838insCGTG"	"r.(?)"	"p.(Val280Argfs*45)"	""
"0000713486"	"00016902"	"90"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Arg377Valfs*2)"	""
"0000727518"	"00016902"	"30"	"-9"	"3"	"-9"	"3"	"c.-9+3G>A"	"r.spl?"	"p.?"	""
"0000727519"	"00016902"	"50"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.?"	""
"0000727520"	"00016902"	"30"	"1083"	"0"	"1083"	"0"	"c.1083G>A"	"r.(?)"	"p.(Lys361=)"	""
"0000729760"	"00016902"	"90"	"698"	"-1"	"698"	"-1"	"c.698-1G>A"	"r.spl"	"p.?"	""
"0000731001"	"00016902"	"70"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Leu197Pro)"	""
"0000731550"	"00016902"	"90"	"421"	"-1"	"421"	"-1"	"c.421-1G>A"	"r.spl"	"p.?"	""
"0000732437"	"00016902"	"90"	"906"	"0"	"907"	"0"	"c.906_907insGCCAAGTGCACACTGGCAGCC"	"r.(?)"	"p.(Ala303_Arg304insLysCysThrLeuAlaAlaAla)"	""
"0000732539"	"00016902"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	""
"0000732740"	"00016902"	"70"	""	"0"	""	"0"	"c.-396_*287{0}"	"r.0?"	"p.0?"	"_1_14_"
"0000732741"	"00016902"	"70"	""	"0"	""	"0"	"c.-396_*287{0}"	"r.0?"	"p.0?"	"_1_14_"
"0000732742"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000732743"	"00016902"	"70"	"475"	"0"	"475"	"0"	"c.475del"	"r.(?)"	"p.(Leu159Serfs*39)"	""
"0000732744"	"00016902"	"70"	"697"	"1"	"697"	"1"	"c.697+1G>T"	"r.spl"	"p.?"	""
"0000732761"	"00016902"	"70"	"871"	"0"	"871"	"0"	"c.871G>C"	"r.(?)"	"p.(Ala291Pro)"	""
"0000732798"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000732799"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000732800"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000732801"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000732802"	"00016902"	"70"	"758"	"0"	"767"	"0"	"c.758_767del"	"r.(?)"	"p.(Gly253Alafs*65)"	""
"0000732822"	"00016902"	"70"	""	"0"	""	"0"	"c.-396_*287{0}"	"r.0?"	"p.0?"	"_1_14_"
"0000732823"	"00016902"	"70"	"421"	"-1"	"421"	"-1"	"c.421-1G>A"	"r.spl?"	"p.?"	"5i"
"0000732824"	"00016902"	"70"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.spl"	"p.?"	""
"0000732825"	"00016902"	"70"	"217"	"0"	"217"	"0"	"c.217A>T"	"r.(?)"	"p.(Lys73*)"	""
"0000734347"	"00016902"	"70"	"1222"	"0"	"1222"	"0"	"c.1222C>T"	"r.(?)"	"p.(Arg408Trp)"	""
"0000734348"	"00016902"	"70"	"1231"	"0"	"1232"	"0"	"c.1231_1232del"	"r.(?)"	"p.(Gln411Glyfs*63)"	""
"0000734349"	"00016902"	"70"	"1231"	"0"	"1232"	"0"	"c.1231_1232del"	"r.(?)"	"p.(Gln411Glyfs*63)"	""
"0000734710"	"00016902"	"90"	"682"	"0"	"682"	"0"	"c.682G>C"	"r.(?)"	"p.(Ala228Pro)"	""
"0000735649"	"00016902"	"90"	"1291"	"0"	"1291"	"0"	"c.1291C>T"	"r.(?)"	"p.(Gln431*)"	""
"0000735650"	"00016902"	"90"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000735933"	"00016902"	"70"	"238"	"1"	"238"	"1"	"c.238+1G>A"	"r.spl"	"p.?"	""
"0000735939"	"00016902"	"70"	"789"	"0"	"789"	"0"	"c.789G>A"	"r.(?)"	"p.(Ser263=)"	""
"0000735940"	"00016902"	"70"	"417"	"0"	"417"	"0"	"c.417C>A"	"r.(?)"	"p.(Val139=)"	""
"0000736070"	"00016902"	"70"	"210"	"0"	"210"	"0"	"c.210T>G"	"r.(?)"	"p.(Tyr70*)"	""
"0000736080"	"00016902"	"70"	"1231"	"0"	"1232"	"0"	"c.1231_1232del"	"r.(?)"	"p.(Gln411Glyfs*63)"	""
"0000736115"	"00016902"	"70"	"1374"	"5"	"1374"	"5"	"c.1374+5C>T"	"r.spl"	"p.?"	""
"0000736336"	"00016902"	"90"	"34"	"0"	"34"	"0"	"c.34G>T"	"r.(?)"	"p.(Glu12*)"	"2"
"0000736337"	"00016902"	"90"	"34"	"0"	"34"	"0"	"c.34G>T"	"r.(?)"	"p.(Glu12*)"	"2"
"0000736338"	"00016902"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	"3"
"0000736339"	"00016902"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	"3"
"0000736340"	"00016902"	"90"	"528"	"-1"	"528"	"-1"	"c.528-1G>A"	"r.spl"	"p.?"	"6i"
"0000736341"	"00016902"	"90"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000736342"	"00016902"	"90"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000736343"	"00016902"	"90"	"978"	"0"	"982"	"0"	"c.978_982del"	"r.(?)"	"p.(Lys327Argfs*146)"	"10"
"0000736344"	"00016902"	"90"	"1077"	"0"	"1077"	"0"	"c.1077C>A"	"r.(?)"	"p.(Tyr359*)"	"11"
"0000736419"	"00016902"	"90"	"177"	"1"	"177"	"1"	"c.177+1G>A"	"r.spl?"	"p.?"	"2i"
"0000736420"	"00016902"	"90"	"390"	"0"	"390"	"0"	"c.390del"	"r.(?)"	"p.(Asn131Metfs*67)"	"5"
"0000736421"	"00016902"	"90"	"421"	"0"	"421"	"0"	"c.421G>T"	"r.(?)"	"p.(Glu141*)"	"6"
"0000736422"	"00016902"	"90"	"636"	"0"	"636"	"0"	"c.636del"	"r.(?)"	"p.(Met212Ilefs*27)"	"7"
"0000736423"	"00016902"	"90"	"758"	"0"	"767"	"0"	"c.758_767del"	"r.(?)"	"p.(Gly253Alafs*65)"	"8"
"0000736424"	"00016902"	"90"	"1049"	"0"	"1073"	"20"	"c.1049_1073+20delinsCCCCT"	"r.?"	"p.?"	"10"
"0000736425"	"00016902"	"90"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl?"	"p.?"	"10i"
"0000736426"	"00016902"	"90"	"973"	"0"	"973"	"0"	"c.973G>T"	"r.(?)"	"p.(Glu325*)"	"10"
"0000736427"	"00016902"	"70"	"871"	"0"	"871"	"0"	"c.871G>C"	"r.(?)"	"p.(Ala291Pro)"	"9"
"0000736428"	"00016902"	"70"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000736429"	"00016902"	"10"	"815"	"0"	"815"	"0"	"c.815G>T"	"r.(?)"	"p.(Gly272Val)"	"8"
"0000736804"	"00016902"	"70"	"698"	"-1"	"698"	"-1"	"c.698-1G>A"	"r.spl"	"p.?"	""
"0000759593"	"00016902"	"90"	"1190"	"0"	"1190"	"0"	"c.1190dup"	"r.(?)"	"p.(His398Profs*77)"	""
"0000759652"	"00016902"	"90"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.spl"	"p.?"	""
"0000759653"	"00016902"	"90"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.spl"	"p.?"	""
"0000759654"	"00016902"	"90"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.spl"	"p.?"	""
"0000759655"	"00016902"	"90"	"172"	"0"	"172"	"0"	"c.172A>T"	"r.(?)"	"p.(Lys58Ter)"	""
"0000759656"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.(Arg289ProfsTer30)"	""
"0000759895"	"00016902"	"70"	"548"	"0"	"580"	"0"	"c.548_580dup"	"r.(?)"	"p.(Glu183_Met193dup)"	""
"0000760127"	"00016902"	"90"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.spl"	"p.?"	"6i"
"0000760163"	"00016902"	"50"	"121"	"0"	"121"	"0"	"c.121C>G"	"r.(?)"	"p.(Leu41Val)"	""
"0000760242"	"00016902"	"50"	"994"	"0"	"994"	"0"	"c.994C>T"	"r.(?)"	"p.(Gln332*)"	""
"0000760254"	"00016902"	"70"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl"	"p.?"	""
"0000760266"	"00016902"	"50"	"341"	"0"	"341"	"0"	"c.341T>A"	"r.(?)"	"p.(Ile114Asn)"	""
"0000760268"	"00016902"	"50"	"400"	"0"	"400"	"0"	"c.400del"	"r.(?)"	"p.(Asp134Ilefs*64)"	""
"0000760291"	"00016902"	"50"	"916"	"0"	"916"	"0"	"c.916G>A"	"r.(?)"	"p.(Asp306Asn)"	""
"0000760317"	"00016902"	"50"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Glu323*)"	""
"0000760341"	"00016902"	"50"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000764179"	"00016902"	"50"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	"7"
"0000764878"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000765507"	"00016902"	"90"	"-339"	"0"	"-339"	"0"	"c.-339delC"	"r.(?)"	"p.(=)"	"1"
"0000765523"	"00016902"	"70"	"862"	"0"	"862"	"0"	"c.862C>T"	"r.(?)"	"p.(Arg288Trp)"	"9"
"0000765639"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"10i"
"0000765640"	"00016902"	"70"	"392"	"0"	"392"	"0"	"c.392dup"	"r.(?)"	"p.(Asn131LysfsTer23)"	"5"
"0000783262"	"00016902"	"90"	"-52"	"0"	"1375"	"-490"	"c.(?_-52)_(1375-490_?)del"	"r.0?"	"p.0?"	"_1_13i"
"0000783280"	"00016902"	"70"	"421"	"-1"	"421"	"-1"	"c.421-1G>A"	"splicing"	"p.?"	"6"
"0000783286"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Ter)"	"10"
"0000783287"	"00016902"	"70"	"310"	"0"	"310"	"0"	"c.310G>A"	"r.(?)"	"p.(Glu104Lys)"	"1"
"0000784193"	"00016902"	"90"	"736"	"0"	"736"	"0"	"c.736G>A"	"r.(?)"	"p.(Ala246Thr)"	""
"0000785380"	"00016902"	"90"	"18"	"0"	"18"	"0"	"c.18G>C"	"r.(?)"	"p.(Glu6Asp)"	""
"0000785388"	"00016902"	"90"	"553"	"0"	"553"	"0"	"c.553G>T"	"r.(?)"	"p.(Glu185Ter)"	""
"0000785524"	"00016902"	"90"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.spl"	"p.?"	""
"0000785526"	"00016902"	"90"	"939"	"0"	"939"	"0"	"c.939dup"	"r.(?)"	"p.(Gly314ArgfsTer10)"	""
"0000786338"	"00016902"	"90"	"772"	"0"	"773"	"0"	"c.772_773del2insCAACATGCAACATCAT"	"r.(?)"	"p.(Thr258GlnfsTer68)"	""
"0000787641"	"00016902"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000787647"	"00016902"	"70"	"631"	"0"	"631"	"0"	"c.631del"	"r.(?)"	"p.(Arg211GlyfsTer28)"	""
"0000787649"	"00016902"	"70"	"1305"	"0"	"1305"	"0"	"c.1305T>A"	"r.(?)"	"p.(Tyr435Ter)"	""
"0000788107"	"00016902"	"90"	"615"	"0"	"615"	"0"	"c.615C>G"	"r.(?)"	"p.(Tyr205Ter)"	""
"0000788108"	"00016902"	"90"	"562"	"0"	"562"	"0"	"c.562G>T"	"r.(?)"	"p.(Glu188Ter)"	""
"0000788143"	"00016902"	"70"	"764"	"0"	"764"	"0"	"c.764A>T"	"r.(?)"	"p.(Gln255Leu)"	""
"0000788537"	"00016902"	"90"	"201"	"0"	"201"	"0"	"c.201del"	"r.(?)"	"p.(Ile67MetfsTer14)"	""
"0000788538"	"00016902"	"70"	"1101"	"0"	"1101"	"0"	"c.1101del"	"r.(?)"	"p.(Leu368Ter)"	"11"
"0000789705"	"00016902"	"90"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Gly224Arg)"	"7"
"0000790102"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790104"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790106"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790108"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790110"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790112"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790114"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790116"	"00016902"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Phe262Serfs*59)"	"8"
"0000790118"	"00016902"	"10"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Ser2Cys)"	"2"
"0000790119"	"00016902"	"10"	"138"	"0"	"138"	"0"	"c.138T>C"	"r.(=)"	"p.(=)"	"2"
"0000790120"	"00016902"	"10"	"697"	"29"	"697"	"30"	"c.697+29_697+30insC"	"r.spl?"	"p.(=)"	"7i"
"0000790121"	"00016902"	"10"	"735"	"0"	"735"	"0"	"c.735C>T"	"r.(=)"	"p.(=)"	"8"
"0000790122"	"00016902"	"10"	"855"	"40"	"855"	"40"	"c.855+40G>A"	"r.spl?"	"p.(=)"	"8i"
"0000790123"	"00016902"	"10"	"1074"	"-38"	"1074"	"-38"	"c.1074-38A>G"	"r.spl?"	"p.(=)"	"10i"
"0000790124"	"00016902"	"10"	"1074"	"-35"	"1074"	"-35"	"c.1074-35C>T"	"r.spl?"	"p.(=)"	"10i"
"0000790125"	"00016902"	"10"	"1098"	"0"	"1098"	"0"	"c.1098G>C"	"r.(=)"	"p.(=)"	"11"
"0000790126"	"00016902"	"10"	"1216"	"0"	"1216"	"0"	"c.1216C>T"	"r.(?)"	"p.(Arg406Cys)"	"12"
"0000790127"	"00016902"	"10"	"1230"	"0"	"1230"	"0"	"c.1230A>G"	"r.(=)"	"p.(=)"	"12"
"0000790128"	"00016902"	"10"	"1672"	"0"	"1672"	"0"	"c.*172C>T"	"r.(=)"	"p.(=)"	"14"
"0000790678"	"00016902"	"90"	""	"0"	""	"0"	"c.946-1G>?"	"r.spl"	"p.?"	""
"0000790687"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000790689"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000790936"	"00016902"	"90"	"-396"	"0"	"1146"	"1"	"c.(?_-396)_(1146+1_1147-1)del"	"r.?"	"p.?"	"1_11"
"0000790937"	"00016902"	"90"	"-396"	"0"	"1146"	"1"	"c.(?_-396)_(1146+1_1147-1)del"	"r.?"	"p.?"	"1_11"
"0000791126"	"00016902"	"90"	"1040"	"0"	"1040"	"0"	"c.1040del"	"r.(?)"	"p.(Leu347Argfs*16)"	"10"
"0000791127"	"00016902"	"90"	"1040"	"0"	"1040"	"0"	"c.1040del"	"r.(?)"	"p.(Leu347Argfs*16)"	"10"
"0000791448"	"00016902"	"70"	"55"	"0"	"55"	"0"	"c.55del"	"r.(?)"	"p.(Glu19Lysfs*46)"	"2"
"0000791449"	"00016902"	"70"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.spl?"	"p.(?)"	"4"
"0000791450"	"00016902"	"70"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.spl?"	"p.(?)"	"4"
"0000791451"	"00016902"	"70"	"328"	"0"	"330"	"0"	"c.328_330del"	"r.(?)"	"p.(Ile110del)"	"5"
"0000791452"	"00016902"	"70"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.(?)"	"p.(?)"	"6i"
"0000791453"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000791454"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000791455"	"00016902"	"70"	"736"	"0"	"736"	"0"	"c.736G>A"	"r.(?)"	"p.(Ala246Thr)"	"8"
"0000791456"	"00016902"	"70"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000791457"	"00016902"	"70"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000791458"	"00016902"	"70"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000791459"	"00016902"	"70"	"939"	"0"	"939"	"0"	"c.939dup"	"r.(?)"	"p.(Gly314Argfs*10)"	"9"
"0000791460"	"00016902"	"70"	"1074"	"-1"	"1074"	"-1"	"c.1074-1G>T"	"r.spl"	"p.(?)"	"10i"
"0000791461"	"00016902"	"70"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.spl"	"p.(?)"	"11i"
"0000791462"	"00016902"	"70"	"1146"	"2"	"1146"	"2"	"c.1146+2T>A"	"r.spl"	"p.(?)"	"11i"
"0000791463"	"00016902"	"70"	"1462"	"0"	"1472"	"0"	"c.1462_1472del"	"r.(?)"	"p.(Lys488Argfs*75)"	"14"
"0000791557"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000791558"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000791559"	"00016902"	"70"	"-8"	"-45"	"421"	"-88"	"c.-8-45_421-88dup"	"r.spl"	"p.(?)"	"_2_5_"
"0000791560"	"00016902"	"70"	"-358"	"0"	"-131"	"0"	"c.-358_-131del"	"r.spl"	"p.(?)"	"1"
"0000791561"	"00016902"	"70"	"857"	"0"	"945"	"1"	"c.857_945+1del"	"r.spl"	"p.(?)"	"9_"
"0000791919"	"00016902"	"90"	"946"	"-1"	"946"	"-1"	"c.946-1G>C"	"r.spl?"	"p.?"	"9i"
"0000791922"	"00016902"	"10"	"636"	"0"	"636"	"0"	"c.636del"	"r.(?)"	"p.(Met212Ilefs*27)"	"7"
"0000792226"	"00016902"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000792227"	"00016902"	"50"	"856"	"-2"	"856"	"-2"	"c.856-2A>G"	"r.spl?"	"p.?"	"8i"
"0000792228"	"00016902"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000792229"	"00016902"	"50"	"177"	"1"	"177"	"1"	"c.177+1delG"	"r.spl?"	"p.?"	"2i"
"0000792230"	"00016902"	"50"	"323"	"-2"	"323"	"-2"	"c.323-2A>G"	"r.spl?"	"p.?"	"4i"
"0000792231"	"00016902"	"50"	"856"	"-2"	"856"	"-2"	"c.856-2A>G"	"r.spl?"	"p.?"	"8i"
"0000792232"	"00016902"	"50"	"319"	"0"	"319"	"0"	"c.319C>G"	"r.(?)"	"p.(Leu107Val)"	"4"
"0000792240"	"00016902"	"90"	"666"	"0"	"666"	"0"	"c.666dup"	"r.(?)"	"p.(Ile223Tyrfs*56)"	"7"
"0000793686"	"00016902"	"70"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.spl?"	"p.?"	"6i"
"0000793907"	"00016902"	"70"	"1273"	"0"	"1273"	"0"	"c.1273C>T"	"r.(?)"	"p.(Gln425*)"	"12"
"0000794013"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000794014"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000794357"	"00016902"	"70"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Leu107Pro)"	"4"
"0000794358"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000794359"	"00016902"	"70"	"785"	"0"	"785"	"0"	"c.785T>C"	"r.(?)"	"p.(Phe262Ser)"	"8"
"0000794823"	"00016902"	"50"	"1165"	"0"	"1165"	"0"	"c.1165C>T"	"r.(?)"	"p.(Gln389*)"	""
"0000794844"	"00016902"	"70"	""	"0"	""	"0"	"c.(855+1_856-1)_(1374+1_1375-1)"	"r.spl"	"p.(?)"	""
"0000794845"	"00016902"	"70"	""	"0"	""	"0"	"c.(855+1_856-1)_(1374+1_1375-1)"	"r.spl"	"p.(?)"	""
"0000794893"	"00016902"	"70"	"421"	"-1"	"1501"	"0"	"c.(420+1_421-1)_(*1_?)dup"	"r.?"	"p.?"	""
"0000795712"	"00016902"	"70"	"322"	"1"	"322"	"1"	"c.322+1G>A"	"r.spl"	"p.(?)"	""
"0000795713"	"00016902"	"70"	"527"	"2"	"527"	"2"	"c.527+2T>G"	"r.spl"	"p.(?)"	""
"0000795714"	"00016902"	"70"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Leu197Pro)"	""
"0000795715"	"00016902"	"70"	"1035"	"0"	"1036"	"0"	"c.1035_1036insGC"	"r.(?)"	"p.(Pro346Alafs*18)"	""
"0000795716"	"00016902"	"70"	"1224"	"0"	"1224"	"0"	"c.1224dup"	"r.(?)"	"p.(Gln409Alafs*66)"	""
"0000795717"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000795939"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000796071"	"00016902"	"90"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	"5"
"0000796072"	"00016902"	"90"	"527"	"1"	"527"	"1"	"c.527+1G>A"	"r.spl?"	"p.?"	"6i"
"0000796273"	"00016902"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	"3"
"0000796691"	"00016902"	"90"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Gln350*)"	"10"
"0000796693"	"00016902"	"90"	"1067"	"0"	"1073"	"8"	"c.1067_1073+8del"	"r.?"	"p.?"	"10"
"0000796718"	"00016902"	"90"	"217"	"0"	"217"	"0"	"c.217A>T"	"r.(?)"	"p.(Lys73*)"	"3"
"0000796818"	"00016902"	"90"	"-396"	"-1"	"1787"	"1"	"c.0"	"r.spl?"	"p.?"	"1_14"
"0000796824"	"00016902"	"90"	"-396"	"-1"	"420"	"1"	"c.(?_-396-1)_(420+1_?)del"	"r.spl?"	"p.?"	"1_5i"
"0000796850"	"00016902"	"70"	"855"	"3"	"855"	"3"	"c.855+3G>C"	"r.spl?"	"p.?"	"8i"
"0000796874"	"00016902"	"90"	"636"	"0"	"636"	"0"	"c.636del"	"r.(?)"	"p.(Met212Ilefs*27)"	"7"
"0000796888"	"00016902"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	"8"
"0000796891"	"00016902"	"90"	"616"	"0"	"616"	"0"	"c.616G>T"	"r.(?)"	"p.(Glu206*)"	"7"
"0000796961"	"00016902"	"70"	"-3"	"0"	"7"	"0"	"c.-3_7del"	"r.?"	"p.?"	"2"
"0000796962"	"00016902"	"70"	"19"	"0"	"20"	"0"	"c.19_20insA"	"r.(?)"	"p.(Leu7Hisfs*4)"	"2"
"0000796963"	"00016902"	"70"	"267"	"0"	"267"	"0"	"c.267del"	"r.(?)"	"p.(Glu89Aspfs*11)"	"4"
"0000796964"	"00016902"	"70"	"528"	"-39"	"531"	"0"	"c.528-39_531del"	"r.?"	"p.?"	"6i_7"
"0000796965"	"00016902"	"70"	"808"	"0"	"809"	"0"	"c.808_809insC"	"r.(?)"	"p.(His270Profs*9)"	"8"
"0000796966"	"00016902"	"70"	"915"	"0"	"916"	"0"	"c.915_916insTGT"	"r.(?)"	"p.(Val305_Asp306insCys)"	"9"
"0000796967"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000796968"	"00016902"	"70"	"1084"	"0"	"1084"	"0"	"c.1084del"	"r.(?)"	"p.(Met362*)"	"11"
"0000797104"	"00016902"	"70"	"839"	"0"	"839"	"0"	"c.839T>G"	"r.(?)"	"p.(Val280Gly)"	"8"
"0000797105"	"00016902"	"70"	"-397"	"0"	"238"	"1"	"c.(?_-397)_(238+1_239-1)del"	"r.(?)"	"p.(?)"	"_1_3_"
"0000797106"	"00016902"	"90"	"698"	"-1"	"698"	"-1"	"c.698-1G>A"	"r.spl"	"p.(?)"	"7i"
"0000797107"	"00016902"	"90"	"-397"	"0"	"420"	"1"	"c.(?_-397)_(420+1_421-1)del"	"r.(?)"	"p.(?)"	"_1_5_"
"0000797108"	"00016902"	"70"	"816"	"0"	"830"	"0"	"c.816_830del"	"r.(?)"	"p.(Tyr273_Ser277del)"	"8"
"0000797109"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.(?)"	"p.(?)"	"6i"
"0000797110"	"00016902"	"70"	"330"	"0"	"333"	"0"	"c.330_333del"	"r.(?)"	"p.(His111Serfs*86)"	"5"
"0000797111"	"00016902"	"70"	"-397"	"0"	"420"	"1"	"c.(?_-397)_(420+1_421-1)del"	"r.(?)"	"p.(?)"	"_3_4_"
"0000797736"	"00016902"	"70"	"961"	"0"	"961"	"0"	"c.961A>T"	"r.(?)"	"p.(Lys321*)"	""
"0000797738"	"00016902"	"70"	"673"	"0"	"673"	"0"	"c.673del"	"r.(?)"	"p.(Ala225Hisfs*14)"	""
"0000797739"	"00016902"	"70"	"1234"	"0"	"1234"	"0"	"c.1234del"	"r.(?)"	"p.(Val412*)"	""
"0000797740"	"00016902"	"70"	"-1"	"0"	"1501"	"0"	"c.(?_-1)_(*1_?)del"	"r.(?)"	"p.(?)"	""
"0000797741"	"00016902"	"70"	"1190"	"0"	"1190"	"0"	"c.1190dup"	"r.(?)"	"p.(His398Profs*77)"	""
"0000797743"	"00016902"	"90"	"997"	"0"	"997"	"0"	"c.997del"	"r.(?)"	"p.(Glu333Serfs*5)"	""
"0000797745"	"00016902"	"70"	"421"	"-2"	"421"	"-2"	"c.421-2A>G"	"r.spl"	"p.(?)"	""
"0000797746"	"00016902"	"90"	"239"	"-1"	"420"	"1"	"c.(238+1_239-1)_(420+1_421-1)dup"	"r.(?)"	"p.(?)"	""
"0000797747"	"00016902"	"70"	"666"	"0"	"668"	"0"	"c.666_668del"	"r.(?)"	"p.(Ile223del)"	""
"0000797748"	"00016902"	"90"	"-1"	"0"	"1501"	"0"	"c.(?_-1)_(*1_?)del"	"r.(?)"	"p.(?)"	""
"0000797753"	"00016902"	"70"	"-1"	"0"	"238"	"1"	"c.(?_-1)_(238+1_239-1)del"	"r.(?)"	"p.(?)"	""
"0000797764"	"00016902"	"70"	"855"	"1"	"855"	"1"	"c.855+1G>T"	"r.spl"	"p.(?)"	""
"0000798050"	"00016902"	"50"	"1336"	"0"	"1336"	"0"	"c.1336T>C"	"r.(?)"	"p.(Ser446Pro)"	""
"0000798051"	"00016902"	"50"	"373"	"0"	"373"	"0"	"c.373C>G"	"r.(?)"	"p.(Leu125Val)"	""
"0000798052"	"00016902"	"50"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.(?)"	""
"0000798053"	"00016902"	"50"	"1222"	"0"	"1222"	"0"	"c.1222C>T"	"r.(?)"	"p.(Arg408Trp)"	""
"0000809045"	"00016902"	"50"	"917"	"0"	"917"	"0"	"c.917A>C"	"r.(?)"	"p.(Asp306Ala)"	""
"0000810859"	"00016902"	"50"	"322"	"115"	"322"	"115"	"c.322+115T>G"	"r.(=)"	"p.(=)"	"4i"
"0000810862"	"00016902"	"30"	"323"	"-30"	"323"	"-30"	"c.323-30C>G"	"r.(=)"	"p.(=)"	"4i"
"0000810866"	"00016902"	"50"	"322"	"115"	"322"	"115"	"c.322+115T>G"	"r.(=)"	"p.(=)"	"4i"
"0000810868"	"00016902"	"10"	"-39"	"14"	"-39"	"14"	"c.-39+14A>G"	"r.spl?"	"p.?"	"1"
"0000810889"	"00016902"	"50"	"194"	"0"	"194"	"0"	"c.194T>A"	"r.(?)"	"p.(Met65Lys)"	"3"
"0000810912"	"00016902"	"10"	"-39"	"14"	"-39"	"14"	"c.-39+14A>G"	"r.(=)"	"p.(=)"	"1"
"0000810919"	"00016902"	"30"	"1652"	"0"	"1652"	"0"	"c.*152G>A"	"r.(=)"	"p.(=)"	"14"
"0000810922"	"00016902"	"50"	"-23"	"0"	"-23"	"0"	"c.-23G>T"	"r.(=)"	"p.(=)"	""
"0000810928"	"00016902"	"70"	"422"	"-1"	"422"	"-1"	"c.422-1G>A"	"r.spl?"	"p.?"	"6"
"0000811903"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000811904"	"00016902"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000811905"	"00016902"	"70"	"359"	"0"	"359"	"0"	"c.359dup"	"r.(?)"	"p.(Arg121Glufs*4)"	""
"0000812769"	"00016902"	"90"	"877"	"0"	"877"	"0"	"c.877del"	"r.(?)"	"p.(Arg293Glyfs*28)"	""
"0000813017"	"00016902"	"70"	"1108"	"0"	"1108"	"0"	"c.1108G>T"	"r.(?)"	"p.(Glu370*)"	""
"0000813825"	"00016902"	"70"	"663"	"0"	"665"	"0"	"c.663_665delCAT"	"r.(?)"	"p.(Ile2223del)"	""
"0000813826"	"00016902"	"70"	"663"	"0"	"665"	"0"	"c.663_665delCAT"	"r.(?)"	"p.(Ile2223del)"	""
"0000813827"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.spl"	"p.(?)"	"_1_"
"0000814778"	"00016902"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	"3"
"0000814929"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_10_"
"0000815327"	"00016902"	"90"	"945"	"1"	"1073"	"-1"	"c.(945+1_945-1)_(1073+1_1073-1)del"	"r.spl"	"p.(?)"	""
"0000815328"	"00016902"	"90"	"945"	"1"	"1073"	"-1"	"c.(945+1_945-1)_(1073+1_1073-1)del"	"r.spl"	"p.(?)"	""
"0000815329"	"00016902"	"90"	"945"	"1"	"1073"	"-1"	"c.(945+1_945-1)_(1073+1_1073-1)del"	"r.spl"	"p.(?)"	""
"0000815334"	"00016902"	"90"	"1462"	"0"	"1472"	"0"	"c.1462_1472del"	"r.(?)"	"p.(Lys488Argfs*75)"	""
"0000815371"	"00016902"	"90"	"1462"	"0"	"1472"	"0"	"c.1462_1472del"	"r.(?)"	"p.(Lys488Argfs*75)"	""
"0000815576"	"00016902"	"50"	"182"	"0"	"182"	"0"	"c.182C>G"	"r.(?)"	"p.(Ala61Gly)"	""
"0000815931"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.-396_*287{0}"	"r.0"	"p.0"	"_1_14_"
"0000815945"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.-396_735{0}"	"r.0?"	"p.0?"	"_1_8"
"0000815947"	"00016902"	"50"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000815952"	"00016902"	"50"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000815967"	"00016902"	"50"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000815978"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.322+115_*287{0}"	"r.?"	"p.?"	"4i_14_"
"0000815990"	"00016902"	"70"	"118"	"0"	"118"	"0"	"c.118C>T"	"r.(?)"	"p.(Gln40*)"	""
"0000816002"	"00016902"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	""
"0000816034"	"00016902"	"70"	"-396"	"0"	"-131"	"0"	"c.-396_-131del"	"r.0?"	"p.(?)"	""
"0000816040"	"00016902"	"70"	"390"	"0"	"390"	"0"	"c.390del"	"r.(?)"	"p.(Asn131Metfs*67)"	""
"0000816071"	"00016902"	"70"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.spl?"	"p.(?)"	""
"0000816081"	"00016902"	"50"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000816082"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.-396_*287{0}"	"r.0"	"p.0"	"_1_14_"
"0000816084"	"00016902"	"70"	"239"	"-329"	"1374"	"963"	"c.239-329_1374+963del"	"r.spl"	"p.(?)"	""
"0000816088"	"00016902"	"70"	"0"	"0"	"0"	"0"	"-"	"r.(?)"	"p.(?)"	"_1"
"0000816121"	"00016902"	"70"	"271"	"0"	"271"	"0"	"c.271del"	"r.(?)"	"p.(Arg91Alafs*9)"	""
"0000816132"	"00016902"	"70"	"346"	"0"	"346"	"0"	"c.346del"	"r.(?)"	"p.(Asp116Ilefs*82)"	""
"0000816141"	"00016902"	"70"	"1112"	"0"	"1117"	"0"	"c.1112_1117del"	"r.(?)"	"p.(Ile371_Arg372del)"	""
"0000816154"	"00016902"	"70"	"1257"	"0"	"1260"	"0"	"c.1257_1260dup"	"r.(?)"	"p.(Ser421Aspfs*55)"	""
"0000816158"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.*19_*287{0}"	"r.?"	"p.?"	"14_14_"
"0000816171"	"00016902"	"50"	"875"	"0"	"877"	"0"	"c.875_877dup"	"r.(?)"	"p.(Ala292_Arg293insPro)"	""
"0000816214"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.-396_(*19_?){0}"	"r.0"	"p.0"	"_1_14"
"0000816236"	"00016902"	"70"	"633"	"0"	"633"	"0"	"c.633del"	"r.(?)"	"p.(Met212Cysfs*27)"	""
"0000816240"	"00016902"	"70"	"-396"	"0"	"-131"	"0"	"c.-396_-131del"	"r.0?"	"p.(?)"	""
"0000816666"	"00016902"	"70"	"383"	"0"	"383"	"0"	"c.383T>A"	"r.(?)"	"p.(Leu128*)"	""
"0000816667"	"00016902"	"70"	"1066"	"0"	"1066"	"0"	"c.1066G>A"	"r.(?)"	"p.(Gly356Ser)"	""
"0000816668"	"00016902"	"70"	"856"	"-2"	"856"	"-2"	"c.856-2A>G"	"r.(?)"	"p.(?)"	""
"0000816669"	"00016902"	"70"	"1222"	"0"	"1222"	"0"	"c.1222C>T"	"r.(?)"	"p.(Arg408Trp)"	""
"0000816670"	"00016902"	"70"	"528"	"-39"	"531"	"0"	"c.528-39_531del"	"r.(?)"	"p.(?)"	""
"0000816671"	"00016902"	"70"	"528"	"-39"	"531"	"0"	"c.528-39_531del"	"r.(?)"	"p.(?)"	""
"0000816672"	"00016902"	"70"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.(?)"	"p.(?)"	""
"0000816673"	"00016902"	"70"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.(?)"	"p.(?)"	""
"0000816674"	"00016902"	"70"	"420"	"6"	"420"	"6"	"c.420+6C>T"	"r.(?)"	"p.(?)"	""
"0000816675"	"00016902"	"70"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ala291Val)"	""
"0000817328"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	"5"
"0000818982"	"00016902"	"50"	"0"	"0"	"0"	"0"	"c.(-9+1_-8-1)_(855+1_856-1){2}"	"r.?"	"p.?"	"1i_8i"
"0000819316"	"00016902"	"70"	"954"	"0"	"955"	"0"	"c.954_955dup"	"r.(?)"	"p.(Glu319Alafs*3)"	""
"0000819317"	"00016902"	"70"	"954"	"0"	"955"	"0"	"c.954_955dup"	"r.(?)"	"p.(Glu319Alafs*3)"	""
"0000819318"	"00016902"	"70"	"954"	"0"	"955"	"0"	"c.954_955dup"	"r.(?)"	"p.(Glu319Alafs*3)"	""
"0000819360"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819361"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819362"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819363"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819364"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819365"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819366"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000819547"	"00016902"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	""
"0000819548"	"00016902"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	""
"0000819780"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000819781"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000819784"	"00016902"	"70"	"360"	"0"	"360"	"0"	"c.360dup"	"r.(?)"	"p.(?)"	""
"0000819785"	"00016902"	"70"	"360"	"0"	"360"	"0"	"c.360dup"	"r.(?)"	"p.(?)"	""
"0000819832"	"00016902"	"70"	"1261"	"0"	"1262"	"0"	"c.1261_1262del"	"r.(?)"	"p.(Ser421Glnfs*53)"	""
"0000820020"	"00016902"	"70"	"954"	"0"	"955"	"0"	"c.954_955dup"	"r.(?)"	"p.(Glu319Alafs*3)"	""
"0000820021"	"00016902"	"70"	"954"	"0"	"955"	"0"	"c.954_955dup"	"r.(?)"	"p.(Glu319Alafs*3)"	""
"0000820035"	"00016902"	"70"	"96"	"0"	"102"	"0"	"c.96_102del"	"r.(?)"	"p.(Ile32Metfs*31)"	""
"0000820036"	"00016902"	"70"	"96"	"0"	"102"	"0"	"c.96_102del"	"r.(?)"	"p.(Ile32Metfs*31)"	""
"0000820037"	"00016902"	"70"	"96"	"0"	"102"	"0"	"c.96_102del"	"r.(?)"	"p.(Ile32Metfs*31)"	""
"0000820124"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820136"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820137"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820138"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820139"	"00016902"	"70"	"81"	"0"	"84"	"0"	"c.81_84del"	"r.(?)"	"p.(Glu28Serfs*36)"	""
"0000820140"	"00016902"	"70"	"81"	"0"	"84"	"0"	"c.81_84del"	"r.(?)"	"p.(Glu28Serfs*36)"	""
"0000820159"	"00016902"	"70"	"698"	"-1"	"1787"	"0"	"c.(697+1_698-1)_(*287_?)del"	"r.spl"	"p.(?)"	""
"0000820160"	"00016902"	"70"	"698"	"-1"	"1787"	"0"	"c.(697+1_698-1)_(*287_?)del"	"r.spl"	"p.(?)"	""
"0000820162"	"00016902"	"70"	"539"	"0"	"539"	"0"	"c.539C>A"	"r.(?)"	"p.(Ser180*)"	""
"0000820176"	"00016902"	"70"	"1147"	"-1"	"1374"	"1"	"c.(1146+1_1147-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820177"	"00016902"	"70"	"1147"	"-1"	"1374"	"1"	"c.(1146+1_1147-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820184"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000820222"	"00016902"	"70"	"420"	"0"	"420"	"0"	"c.420G>C"	"r.(?)"	"p.(Lys140Asn)"	""
"0000820229"	"00016902"	"70"	"1118"	"0"	"1127"	"0"	"c.1118_1127del"	"r.(?)"	"p.(Lys373Thrfs*3)"	""
"0000820232"	"00016902"	"70"	"1141"	"0"	"1141"	"0"	"c.1141G>T"	"r.(?)"	"p.(Gly381*)"	""
"0000820236"	"00016902"	"70"	"-8"	"-1"	"177"	"1"	"c.(-9+1_-8-1)_(177+1_178-1)del"	"r.spl"	"p.(?)"	""
"0000820239"	"00016902"	"70"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>G"	"r.spl"	"p.(?)"	""
"0000820243"	"00016902"	"70"	"176"	"0"	"177"	"0"	"c.176_177insTA"	"r.(?)"	"p.(Met59Ilefs*7)"	""
"0000820244"	"00016902"	"70"	"176"	"0"	"177"	"0"	"c.176_177insTA"	"r.(?)"	"p.(Met59Ilefs*7)"	""
"0000820248"	"00016902"	"70"	"1374"	"654"	"1374"	"654"	"c.1374+654C>G"	"r.spl"	"p.(?)"	""
"0000820252"	"00016902"	"70"	"698"	"-1"	"698"	"-1"	"c.698-1G>A"	"r.spl"	"p.(?)"	""
"0000820253"	"00016902"	"70"	"698"	"-1"	"698"	"-1"	"c.698-1G>A"	"r.spl"	"p.(?)"	""
"0000820288"	"00016902"	"70"	"279"	"0"	"279"	"0"	"c.279dup"	"r.(?)"	"p.(Val94Argfs*19)"	""
"0000820291"	"00016902"	"70"	"81"	"0"	"84"	"0"	"c.81_84del"	"r.(?)"	"p.(Glu28Serfs*36)"	""
"0000820292"	"00016902"	"70"	"-397"	"0"	"945"	"1"	"c.(?_-397)_(945+1_946-1)del"	"r.spl"	"p.(?)"	""
"0000820293"	"00016902"	"70"	"-397"	"0"	"945"	"1"	"c.(?_-397)_(945+1_946-1)del"	"r.spl"	"p.(?)"	""
"0000820384"	"00016902"	"70"	"1067"	"0"	"1073"	"8"	"c.1067_1073+8del"	"r.spl"	"p.(?)"	""
"0000820413"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.(?)"	""
"0000820442"	"00016902"	"70"	"698"	"-1"	"698"	"-1"	"c.698-1G>A"	"r.spl"	"p.(?)"	""
"0000820449"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.spl"	"p.(?)"	""
"0000820459"	"00016902"	"70"	"371"	"0"	"375"	"0"	"c.371_375del"	"r.(?)"	"p.(Glu124Glyfs*28)"	""
"0000820466"	"00016902"	"70"	"953"	"0"	"959"	"0"	"c.953_959del"	"r.(?)"	"p.(Tyr318*)"	""
"0000820529"	"00016902"	"70"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Gln350*)"	""
"0000820536"	"00016902"	"70"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl"	"p.(?)"	""
"0000820571"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000820578"	"00016902"	"70"	"1275"	"0"	"1275"	"0"	"c.1275G>T"	"r.(?)"	"p.(Gln425His)"	""
"0000820594"	"00016902"	"70"	"582"	"0"	"583"	"0"	"c.582_583del"	"r.(?)"	"p.(Leu195Glyfs*83)"	""
"0000820595"	"00016902"	"70"	"178"	"-2"	"178"	"-2"	"c.178-2A>G"	"r.spl"	"p.(?)"	""
"0000820597"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000821340"	"00016902"	"70"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0000821341"	"00016902"	"70"	"838"	"0"	"841"	"0"	"c.838_841dup"	"r.(?)"	"p.(Gln281Argfs*44)"	""
"0000821342"	"00016902"	"70"	"1129"	"0"	"1129"	"0"	"c.1129del"	"r.(?)"	"p.(Arg377Valfs*2)"	""
"0000821471"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000821472"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000824332"	"00016902"	"90"	"-396"	"-1"	"238"	"1"	"c.(?_-396-1)_(238+1_239-1)del"	"r.(?)"	"p.(?)"	"_1_3_"
"0000824334"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215del"	"r.(?)"	"p.(Arg406Valfs*7)"	"12"
"0000824338"	"00016902"	"90"	"856"	"-1"	"856"	"-1"	"c.856-1G>C"	"r.(?)"	"p.(?)"	"9"
"0000824339"	"00016902"	"90"	"323"	"-1"	"323"	"-1"	"c.323-1G>C"	"r.(?)"	"p.(?)"	"5"
"0000824342"	"00016902"	"90"	"584"	"0"	"584"	"0"	"c.584T>C"	"r.(?)"	"p.(Leu195Pro)"	"7"
"0000824343"	"00016902"	"90"	"1374"	"654"	"1374"	"654"	"c.1374+654C>G"	"r.(?)"	"p.(?)"	"13"
"0000824350"	"00016902"	"90"	"854"	"0"	"855"	"10"	"c.854_855+10del"	"r.(?)"	"p.(?)"	"8"
"0000824360"	"00016902"	"90"	"344"	"0"	"344"	"0"	"c.344G>C"	"r.(?)"	"p.(Arg115Pro)"	"5"
"0000824361"	"00016902"	"90"	"-8"	"-1"	"238"	"1"	"c.(-9+1_-8-1)_(238+1_239-1)del"	"r.(?)"	"p.(?)"	"_2_3_"
"0000824363"	"00016902"	"90"	"-396"	"-1"	"1787"	"0"	"c.(?_-396-1)_(*287_?)del"	"r.(?)"	"p.(?)"	"_1_14_"
"0000824365"	"00016902"	"90"	"-396"	"-1"	"1787"	"0"	"c.(?_-396-1)_(*287_?)del"	"r.(?)"	"p.(?)"	"_1_14_"
"0000824366"	"00016902"	"90"	"916"	"0"	"916"	"0"	"c.916G>A"	"r.(?)"	"p.(Asp306Asn)"	"9"
"0000824373"	"00016902"	"90"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Gln156*)"	"6"
"0000824376"	"00016902"	"90"	"1499"	"0"	"1499"	"0"	"c.1499G>T"	"r.(?)"	"p.(*500Leuext*23)"	"14"
"0000824378"	"00016902"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	"3"
"0000824381"	"00016902"	"90"	"421"	"-1"	"421"	"-1"	"c.421-1G>A"	"r.(?)"	"p.(?)"	"6"
"0000824395"	"00016902"	"90"	"-396"	"-1"	"1787"	"0"	"c.(?_-396-1)_(*287_?)del"	"r.(?)"	"p.(?)"	"_1_14_"
"0000824400"	"00016902"	"70"	"1146"	"0"	"1146"	"0"	"c.1146G>A"	"r.(?)"	"p.(Glu382=)"	"11"
"0000824401"	"00016902"	"90"	"-8"	"-1"	"238"	"1"	"c.(-9+1_-8-1)_(238+1_239-1)del"	"r.(?)"	"p.(?)"	"_2_3"
"0000824407"	"00016902"	"90"	"-8"	"-1"	"855"	"1"	"c.(-9+1_-8-1)_(855+1_856-1)del"	"r.(?)"	"p.(?)"	"_2_8_"
"0000825779"	"00016902"	"70"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Leu107Pro)"	"4"
"0000825871"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000825905"	"00016902"	"70"	"785"	"0"	"785"	"0"	"c.785T>C"	"r.(?)"	"p.(Phe262Ser)"	"8"
"0000825993"	"00016902"	"70"	"-8"	"-1"	"1787"	"1"	"c.-8-1_*287+1del"	"r.spl?"	"p.?"	"1i_14"
"0000826006"	"00016902"	"70"	"-396"	"-1"	"1787"	"1"	"c.-396-1_*287+1del"	"r.spl?"	"p.?"	"1_14"
"0000826027"	"00016902"	"70"	"-8"	"-1"	"238"	"1"	"c.-8-1_238+1del"	"r.spl?"	"p.?"	"1i_3i"
"0000826048"	"00016902"	"70"	"-8"	"-1"	"1374"	"1"	"c.-8-1_1374+1del"	"r.spl?"	"p.?"	"1i_13i"
"0000826137"	"00016902"	"70"	"1375"	"-1"	"1787"	"1"	"c.1375-1_*287+1del"	"r.spl?"	"p.?"	"13i_14"
"0000826152"	"00016902"	"70"	"239"	"-2"	"239"	"-2"	"c.239-2A>G"	"r.spl?"	"p.?"	"3i"
"0000826206"	"00016902"	"70"	"293"	"0"	"294"	"0"	"c.293_294insTCTGA"	"r.(?)"	"p.(Val101*)"	"4"
"0000826252"	"00016902"	"70"	"1375"	"-1"	"1787"	"1"	"c.1375-1_*287+1del"	"r.spl?"	"p.?"	"13i_14"
"0000826387"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl?"	"p.?"	"10i"
"0000826945"	"00016902"	"70"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.(?)"	""
"0000826946"	"00016902"	"70"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.(?)"	""
"0000827134"	"00016902"	"90"	"992"	"0"	"992"	"0"	"c.992G>A"	"r.(?)"	"p.(Trp331*)"	"10"
"0000827135"	"00016902"	"90"	"551"	"0"	"552"	"0"	"c.551_552insCCGGAGCT"	"r.(?)"	"p.(Glu185Argfs*16)"	"7"
"0000827136"	"00016902"	"90"	"1205"	"0"	"1205"	"0"	"c.1205C>A"	"r.(?)"	"p.(Ser402*)"	"12"
"0000827137"	"00016902"	"90"	"549"	"0"	"549"	"0"	"c.549del"	"r.(?)"	"p.(Glu183Aspfs*15)"	"7"
"0000827138"	"00016902"	"50"	"1307"	"0"	"1307"	"0"	"c.1307G>A"	"r.(?)"	"p.(Gly436Asp)"	"13"
"0000828837"	"00016902"	"90"	"1375"	"-2"	"1375"	"-2"	"c.1375-2A>G"	"r.spl"	"p.(?)"	""
"0000828847"	"00016902"	"90"	"616"	"0"	"616"	"0"	"c.616G>T"	"r.(?)"	"p.(Glu206*)"	""
"0000828862"	"00016902"	"70"	"1043"	"0"	"1043"	"0"	"c.1043A>C"	"r.(?)"	"p.(Asp348Ala)"	""
"0000828876"	"00016902"	"50"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.(?)"	""
"0000828901"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000828916"	"00016902"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000828935"	"00016902"	"70"	"815"	"0"	"815"	"0"	"c.815G>T"	"r.(?)"	"p.(Gly272Val)"	""
"0000829717"	"00016902"	"70"	"1120"	"0"	"1120"	"0"	"c.1120C>T"	"r.(?)"	"p.(Gln374Ter)"	""
"0000829795"	"00016902"	"70"	"528"	"-1"	"528"	"-1"	"c.528-1G>T"	"r.spl"	"p.?"	""
"0000829849"	"00016902"	"90"	"316"	"0"	"316"	"0"	"c.316G>T"	"r.(?)"	"p.(Glu106*)"	"4"
"0000829941"	"00016902"	"90"	"-8"	"-1"	"238"	"1"	"c.-8-1_238+1del"	"r.spl?"	"p.?"	"1i_3i"
"0000855693"	"00016902"	"50"	"18"	"0"	"18"	"0"	"c.18G>C"	"r.(?)"	"p.(Glu6Asp)"	""
"0000855694"	"00016902"	"50"	"325"	"0"	"325"	"0"	"c.325A>G"	"r.(?)"	"p.(Ile109Val)"	""
"0000896513"	"00016902"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Cys)"	""
"0000896514"	"00016902"	"50"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	""
"0000896535"	"00016902"	"90"	"1375"	"-2"	"1375"	"-2"	"c.1375-2A>G"	"r.spl"	"p.?"	""
"0000896597"	"00016902"	"70"	"815"	"0"	"815"	"0"	"c.815G>T"	"r.(?)"	"p.(Gly272Val)"	""
"0000896621"	"00016902"	"70"	"1043"	"0"	"1043"	"0"	"c.1043A>C"	"r.(?)"	"p.(Asp348Ala)"	""
"0000896683"	"00016902"	"90"	"616"	"0"	"616"	"0"	"c.616G>T"	"r.(?)"	"p.(Glu206Ter)"	""
"0000896697"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Ter)"	""
"0000896999"	"00016902"	"90"	"46"	"0"	"46"	"0"	"c.46G>T"	"r.(?)"	"p.(Glu16*)"	"2"
"0000897000"	"00016902"	"90"	"178"	"-2"	"178"	"-2"	"c.178-2A>G"	"r.spl"	"p.?"	"2i"
"0000897001"	"00016902"	"90"	"180"	"0"	"180"	"0"	"c.180dup"	"r.(?)"	"p.(Ala61Cysfs*2)"	"3"
"0000897002"	"00016902"	"90"	"180"	"0"	"180"	"0"	"c.180dup"	"r.(?)"	"p.(Ala61Cysfs*2)"	"3"
"0000897003"	"00016902"	"90"	"180"	"0"	"180"	"0"	"c.180dup"	"r.(?)"	"p.(Ala61Cysfs*2)"	"3"
"0000897004"	"00016902"	"90"	"180"	"0"	"180"	"0"	"c.180dup"	"r.(?)"	"p.(Ala61Cysfs*2)"	"3"
"0000897005"	"00016902"	"90"	"180"	"0"	"180"	"0"	"c.180dup"	"r.(?)"	"p.(Ala61Cysfs*2)"	"3"
"0000897006"	"00016902"	"90"	"239"	"-1"	"239"	"-1"	"c.239-1G>A"	"r.spl"	"p.?"	"3i"
"0000897007"	"00016902"	"90"	"281"	"0"	"297"	"0"	"c.281_297del"	"r.(?)"	"p.(Val94Aspfs*13)"	"4"
"0000897008"	"00016902"	"90"	"281"	"0"	"297"	"0"	"c.281_297del"	"r.(?)"	"p.(Val94Aspfs*13)"	"4"
"0000897009"	"00016902"	"90"	"281"	"0"	"297"	"0"	"c.281_297del"	"r.(?)"	"p.(Val94Aspfs*13)"	"4"
"0000897010"	"00016902"	"90"	"322"	"2"	"322"	"2"	"c.322+2T>C"	"r.spl"	"p.?"	"4i"
"0000897011"	"00016902"	"90"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	"5"
"0000897012"	"00016902"	"90"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	"5"
"0000897013"	"00016902"	"90"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	"5"
"0000897014"	"00016902"	"90"	"420"	"1"	"420"	"1"	"c.420+1G>T"	"r.spl"	"p.?"	"5i"
"0000897015"	"00016902"	"90"	"420"	"1"	"420"	"1"	"c.420+1G>T"	"r.spl"	"p.?"	"5i"
"0000897016"	"00016902"	"90"	"641"	"0"	"641"	"0"	"c.641del"	"r.(?)"	"p.(Phe214Serfs*25)"	"7"
"0000897017"	"00016902"	"90"	"856"	"-1"	"856"	"-1"	"c.856-1G>A"	"r.spl"	"p.?"	"8i"
"0000897018"	"00016902"	"90"	"898"	"0"	"898"	"0"	"c.898del"	"r.(?)"	"p.(Thr300Hisfs*21)"	"9"
"0000897019"	"00016902"	"90"	"973"	"0"	"973"	"0"	"c.973G>T"	"r.(?)"	"p.(Glu325*)"	"10"
"0000897020"	"00016902"	"90"	"973"	"0"	"973"	"0"	"c.973G>T"	"r.(?)"	"p.(Glu325*)"	"10"
"0000897021"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000897022"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000897023"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000897024"	"00016902"	"90"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	"10i"
"0000897025"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_14_"
"0000897026"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_14_"
"0000897027"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_14_"
"0000903263"	"00016902"	"70"	"341"	"0"	"341"	"0"	"c.341T>A"	"r.(?)"	"p.(Ile114Asn)"	""
"0000903264"	"00016902"	"70"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.spl"	"p.?"	""
"0000903265"	"00016902"	"70"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.spl"	"p.?"	""
"0000903266"	"00016902"	"70"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl"	"p.?"	""
"0000903267"	"00016902"	"70"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl"	"p.?"	""
"0000903268"	"00016902"	"70"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl"	"p.?"	""
"0000903269"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.spl"	"p.(Arg354*)"	""
"0000903270"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000903271"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000903272"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000903273"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000903274"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000903275"	"00016902"	"70"	"1073"	"1"	"1073"	"1"	"c.1073+1G>A"	"r.spl"	"p.?"	""
"0000903276"	"00016902"	"70"	"-3"	"0"	"7"	"0"	"c.-3_7del"	"r.(?)"	"p.?"	""
"0000903277"	"00016902"	"70"	"-3"	"0"	"7"	"0"	"c.-3_7del"	"r.(?)"	"p.?"	""
"0000903278"	"00016902"	"70"	"-3"	"0"	"7"	"0"	"c.-3_7del"	"r.(?)"	"p.?"	""
"0000903279"	"00016902"	"70"	"550"	"0"	"552"	"0"	"c.550_552del"	"r.(?)"	"p.(Leu184del)"	""
"0000903280"	"00016902"	"70"	"758"	"0"	"767"	"0"	"c.758_767del"	"r.(?)"	"p.(Gly253Alafs*65)"	""
"0000903281"	"00016902"	"70"	"1084"	"0"	"1084"	"0"	"c.1084delA"	"r.(?)"	"p.(Met362*)"	""
"0000903282"	"00016902"	"70"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	""
"0000903283"	"00016902"	"70"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	""
"0000903284"	"00016902"	"70"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	""
"0000903285"	"00016902"	"70"	"-118"	"0"	"-9"	"39"	"c.-118_-9+39delins640"	"r.(?)"	"p.?"	""
"0000903286"	"00016902"	"70"	"-118"	"0"	"-9"	"39"	"c.-118_-9+39delins641"	"r.(?)"	"p.?"	""
"0000903287"	"00016902"	"70"	"-118"	"0"	"-9"	"39"	"c.-118_-9+39delins642"	"r.(?)"	"p.?"	""
"0000903288"	"00016902"	"70"	"-118"	"0"	"-9"	"39"	"c.-118_-9+39delins643"	"r.(?)"	"p.?"	""
"0000903289"	"00016902"	"70"	"-118"	"0"	"-9"	"39"	"c.-118_-9+39delins644"	"r.(?)"	"p.?"	""
"0000903290"	"00016902"	"70"	"390"	"0"	"390"	"0"	"c.390delC"	"r.(?)"	"p.(Asn131Metfs*67)"	""
"0000903291"	"00016902"	"70"	"390"	"0"	"390"	"0"	"c.390delC"	"r.(?)"	"p.(Asn131Metfs*67)"	""
"0000903292"	"00016902"	"70"	"390"	"0"	"390"	"0"	"c.390delC"	"r.(?)"	"p.(Asn131Metfs*67)"	""
"0000903293"	"00016902"	"70"	"525"	"0"	"526"	"0"	"c.525_526insAG"	"r.(?)"	"p.(Gly176Argfs*23)"	""
"0000903294"	"00016902"	"70"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	""
"0000903295"	"00016902"	"50"	"829"	"0"	"829"	"0"	"c.829A>C"	"r.(?)"	"p.(Ser277Arg)"	""
"0000904325"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904326"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904327"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904328"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904329"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904330"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904331"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904332"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904333"	"00016902"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000904351"	"00016902"	"90"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Leu197Pro)"	""
"0000904352"	"00016902"	"90"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Leu197Pro)"	""
"0000904353"	"00016902"	"90"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Leu197Pro)"	""
"0000904355"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527 + 3A>G"	"r.spl"	"p.?"	""
"0000904356"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527 + 3A>G"	"r.spl"	"p.?"	""
"0000904357"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527 + 3A>G"	"r.spl"	"p.?"	""
"0000904358"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527 + 3A>G"	"r.spl"	"p.?"	""
"0000904359"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527 + 3A>G"	"r.spl"	"p.?"	""
"0000904360"	"00016902"	"90"	"1226"	"0"	"1227"	"0"	"c.1226_1227insA"	"r.(?)"	"p.(Thr410Aspfs*65)"	""
"0000904361"	"00016902"	"90"	"1226"	"0"	"1227"	"0"	"c.1226_1227insA"	"r.(?)"	"p.(Thr410Aspfs*65)"	""
"0000904362"	"00016902"	"90"	"1015"	"0"	"1015"	"0"	"c.1015C>T"	"r.(?)"	"p.(Gln339*)"	""
"0000904477"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904478"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904479"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904480"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904481"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904482"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904483"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904484"	"00016902"	"90"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904485"	"00016902"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904486"	"00016902"	"70"	"433"	"0"	"434"	"0"	"c.433_434del"	"r.(?)"	"p.(Ser145Profs*8)"	""
"0000904487"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904488"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904489"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904490"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904491"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904492"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904493"	"00016902"	"90"	"547"	"0"	"547"	"0"	"c.547del"	"r.(?)"	"p.(Glu183Serfs*15)"	""
"0000904494"	"00016902"	"90"	"804"	"0"	"804"	"0"	"c.804del"	"r.(?)"	"p.(His270Thrfs*51)"	""
"0000904495"	"00016902"	"90"	"804"	"0"	"804"	"0"	"c.804del"	"r.(?)"	"p.(His270Thrfs*51)"	""
"0000904496"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904497"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904498"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904499"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904500"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904501"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904502"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	""
"0000904503"	"00016902"	"90"	"2315"	"0"	"2315"	"0"	"c.2315C>T"	"r.(?)"	"p.(Ala772Val)"	""
"0000904504"	"00016902"	"90"	"2458"	"0"	"2458"	"0"	"c.2458C>G"	"r.(?)"	"p.(Arg820Gly)"	""
"0000904505"	"00016902"	"90"	"7679"	"0"	"7679"	"0"	"c.7679C>T"	"r.(?)"	"p.(Pro2560Leu)"	""
"0000904717"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904718"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904719"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904720"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904721"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904722"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000904723"	"00016902"	"70"	"357"	"0"	"358"	"0"	"c.357_358delAA"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905102"	"00016902"	"90"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905103"	"00016902"	"90"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905104"	"00016902"	"90"	"1146"	"2"	"1146"	"2"	"c.1146+2T>A"	"r.(?)"	"p.?"	"11"
"0000905105"	"00016902"	"90"	"328"	"0"	"330"	"0"	"c.328_330del"	"r.(?)"	"p.(Ile110del)"	"5"
"0000905106"	"00016902"	"90"	"328"	"0"	"330"	"0"	"c.328_330del"	"r.(?)"	"p.(Ile110del)"	"5"
"0000905107"	"00016902"	"90"	"328"	"0"	"330"	"0"	"c.328_330del"	"r.(?)"	"p.(Ile110del)"	"5"
"0000905108"	"00016902"	"90"	"328"	"0"	"330"	"0"	"c.328_330del"	"r.(?)"	"p.(Ile110del)"	"5"
"0000905109"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905110"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905111"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905112"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905113"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905114"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905115"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905116"	"00016902"	"90"	"828"	"0"	"829"	"0"	"c.828_829del"	"r.(?)"	"p.(His276Glnfs*2)"	"8"
"0000905117"	"00016902"	"90"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000905118"	"00016902"	"90"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000905119"	"00016902"	"90"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000905120"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_14_"
"0000905121"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_14_"
"0000905122"	"00016902"	"90"	"-8"	"-45"	"421"	"-88"	"c.-8-45_421-88dup"	"r.(?)"	"p.?"	"_2_5_"
"0000905123"	"00016902"	"90"	"-8"	"-45"	"421"	"-88"	"c.-8-45_421-88dup"	"r.(?)"	"p.?"	"_2_5_"
"0000905124"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_2_"
"0000905125"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"_1_2_"
"0000905126"	"00016902"	"90"	"939"	"0"	"939"	"0"	"c.939dup"	"r.(?)"	"p.(Gly314Argfs*10)"	"9"
"0000905127"	"00016902"	"90"	"939"	"0"	"939"	"0"	"c.939dup"	"r.(?)"	"p.(Gly314Argfs*10)"	"9"
"0000905128"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905129"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905130"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905131"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905132"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905133"	"00016902"	"90"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905134"	"00016902"	"90"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905135"	"00016902"	"90"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.(?)"	"p.?"	"11i"
"0000905136"	"00016902"	"90"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.(?)"	"p.?"	"11i"
"0000905137"	"00016902"	"90"	"527"	"1"	"527"	"1"	"c.527+1G>T"	"r.(?)"	"p.?"	"6i"
"0000905138"	"00016902"	"90"	"-358"	"0"	"-131"	"0"	"c.-358_-131del"	"r.(?)"	"p.?"	"1"
"0000905139"	"00016902"	"90"	"1074"	"-1"	"1074"	"-1"	"c.1074-1G>T"	"r.(?)"	"p.?"	"10"
"0000905140"	"00016902"	"90"	"322"	"4"	"322"	"7"	"c.322+4_322+7del"	"r.(?)"	"p.?"	"4i"
"0000905156"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905157"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905158"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905159"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905160"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905161"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905162"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905163"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905164"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905165"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905166"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905167"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905168"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905169"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905170"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905171"	"00016902"	"90"	"866"	"0"	"879"	"0"	"c.866_879del"	"r.(?)"	"p.Arg289fs"	""
"0000905192"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905193"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905194"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905195"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905196"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905197"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905198"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905199"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905200"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905201"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905202"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905203"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905204"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905205"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905206"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905207"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905208"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905209"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905210"	"00016902"	"70"	"919"	"0"	"919"	"0"	"c.919dup"	"r.(?)"	"p.(Ser307Lysfs*17)"	""
"0000905211"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905212"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905213"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905214"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905215"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905216"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905217"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905218"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	""
"0000905219"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215delG"	"r.(?)"	"p.(Arg406Valfs*7)"	""
"0000905220"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215delG"	"r.(?)"	"p.(Arg406Valfs*7)"	""
"0000905221"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215delG"	"r.(?)"	"p.(Arg406Valfs*7)"	""
"0000905222"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215delG"	"r.(?)"	"p.(Arg406Valfs*7)"	""
"0000905223"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215delG"	"r.(?)"	"p.(Arg406Valfs*7)"	""
"0000905224"	"00016902"	"90"	"1215"	"0"	"1215"	"0"	"c.1215delG"	"r.(?)"	"p.(Arg406Valfs*7)"	""
"0000905227"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905228"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905229"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905230"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905231"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905232"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905233"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905234"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905235"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905236"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905237"	"00016902"	"70"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120Glufs*4)"	""
"0000905703"	"00016902"	"70"	"528"	"-45"	"528"	"-3"	"c.528-3_528-45del"	"r.spl?"	"p.?"	"6i"
"0000905704"	"00016902"	"70"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	"6i"
"0000905705"	"00016902"	"70"	"646"	"0"	"646"	"0"	"c.646G>C"	"r.(?)"	"p.(Ala216Pro)"	"7"
"0000905706"	"00016902"	"70"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905707"	"00016902"	"70"	"582"	"0"	"583"	"0"	"c.582_583dup"	"r.(?)"	"p.(Leu195Argfs*4)"	"7"
"0000905708"	"00016902"	"70"	"581"	"0"	"581"	"0"	"c.581C>A"	"r.(?)"	"p.(Ala194Glu)"	"7"
"0000905709"	"00016902"	"70"	"770"	"0"	"770"	"0"	"c.770dup"	"r.(?)"	"p.(Thr258Aspfs*21)"	"8"
"0000905710"	"00016902"	"90"	"421"	"-1"	"421"	"-1"	"c.421-1G>A"	"r.spl?"	"p.?"	"5i"
"0000905711"	"00016902"	"90"	"331"	"0"	"342"	"0"	"c.331_342del"	"r.(?)"	"p.(His111_Ile114del)"	"5"
"0000905712"	"00016902"	"90"	"1142"	"0"	"1142"	"0"	"c.1142delG"	"r.(?)"	"p.(Gly381Glufs*32)"	"11"
"0000905713"	"00016902"	"90"	"1155"	"0"	"1159"	"0"	"c.1155_1159delinsAGGGATT"	"r.(?)"	"p.(Asp386Glyfs*28)"	"12"
"0000905714"	"00016902"	"90"	"528"	"-45"	"528"	"-3"	"c.528-3_528-45del"	"r.spl?"	"p.?"	""
"0000905715"	"00016902"	"90"	"1142"	"0"	"1142"	"0"	"c.1142del"	"r.(?)"	"p.(Gly381Glufs*32)"	"11"
"0000905716"	"00016902"	"90"	"1155"	"0"	"1159"	"0"	"c.1155_1159delinsAGGGATT"	"r.(?)"	"p.(Asp386Glyfs*28)"	"12"
"0000905717"	"00016902"	"90"	"-396"	"0"	"1148"	"-9"	"c.(?_-396)_(1148-9_?)del"	"r.?"	"p.?"	""
"0000905718"	"00016902"	"90"	"-396"	"0"	"1148"	"-9"	"c.(?_-396)_(1148-9_?)del"	"r.?"	"p.?"	""
"0000905719"	"00016902"	"90"	"-396"	"0"	"1148"	"-9"	"c.(?_-396)_(1148-9_?)del"	"r.?"	"p.?"	""
"0000905720"	"00016902"	"90"	"-396"	"0"	"1148"	"-9"	"c.(?_-396)_(1148-9_?)del"	"r.?"	"p.?"	""
"0000905721"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905722"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905723"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905724"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905725"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905726"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905727"	"00016902"	"90"	"1143"	"0"	"1143"	"0"	"c.1143del"	"r.?"	"p.?"	"11"
"0000905728"	"00016902"	"70"	"79"	"0"	"79"	"0"	"c.79G>T"	"r.(?)"	"p.(Glu27*)"	"2"
"0000905729"	"00016902"	"70"	"412"	"0"	"412"	"0"	"c.412C>A"	"r.?"	"p.?"	"5"
"0000905730"	"00016902"	"70"	"412"	"0"	"412"	"0"	"c.412C>A"	"r.?"	"p.?"	"5"
"0000905731"	"00016902"	"70"	"412"	"0"	"412"	"0"	"c.412C>A"	"r.?"	"p.?"	"5"
"0000905732"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	"6i"
"0000905733"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	"6i"
"0000905734"	"00016902"	"70"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.spl?"	"p.?"	"11i"
"0000905735"	"00016902"	"70"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.spl?"	"p.?"	"11i"
"0000905736"	"00016902"	"70"	"1146"	"2"	"1146"	"2"	"c.1146+2T>C"	"r.spl?"	"p.?"	"11i"
"0000905737"	"00016902"	"70"	"528"	"-1"	"528"	"-1"	"c.528-1G>A"	"r.spl?"	"p.?"	"6i"
"0000905738"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	"6i"
"0000905739"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	"6i"
"0000905740"	"00016902"	"90"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.?"	"6i"
"0000905741"	"00016902"	"70"	"522"	"0"	"527"	"10"	"c.522_527+10del"	"r.?"	"p.?"	"6"
"0000905742"	"00016902"	"70"	"-9"	"1"	"-9"	"1"	"c.-9+1G>T"	"r.spl?"	"p.?"	"1i"
"0000905743"	"00016902"	"70"	"-9"	"1"	"-9"	"1"	"c.-9+1G>T"	"r.spl?"	"p.?"	"1i"
"0000905746"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000905747"	"00016902"	"70"	"855"	"5"	"855"	"5"	"c.855+5G>A"	"r.spl?"	"p.?"	"8i"
"0000905748"	"00016902"	"70"	"855"	"5"	"855"	"5"	"c.855+5G>A"	"r.spl?"	"p.?"	"8i"
"0000905749"	"00016902"	"70"	"855"	"5"	"855"	"5"	"c.855+5G>A"	"r.spl?"	"p.?"	"8i"
"0000905750"	"00016902"	"70"	"855"	"5"	"855"	"5"	"c.855+5G>A"	"r.spl?"	"p.?"	"8i"
"0000905751"	"00016902"	"70"	"855"	"5"	"855"	"5"	"c.855+5G>A"	"r.spl?"	"p.?"	"8i"
"0000905752"	"00016902"	"70"	"855"	"5"	"855"	"5"	"c.855+5G>A"	"r.spl?"	"p.?"	"8i"
"0000905753"	"00016902"	"70"	"849"	"0"	"855"	"0"	"c.849_855del"	"r.spl?"	"p.?"	"8"
"0000905754"	"00016902"	"70"	"849"	"0"	"855"	"0"	"c.849_855del"	"r.spl?"	"p.?"	"8"
"0000905755"	"00016902"	"70"	"849"	"0"	"855"	"0"	"c.849_855del"	"r.spl?"	"p.?"	"8"
"0000905756"	"00016902"	"70"	"849"	"0"	"855"	"0"	"c.849_855del"	"r.spl?"	"p.?"	"8"
"0000905757"	"00016902"	"70"	"177"	"1"	"177"	"1"	"c.177+1del"	"r.spl?"	"p.?"	"2i"
"0000905758"	"00016902"	"70"	"319"	"0"	"319"	"0"	"c.319C>G"	"r.(?)"	"p.(Leu107Val)"	"4"
"0000905759"	"00016902"	"70"	"323"	"-2"	"323"	"-2"	"c.323-2A>G"	"r.spl?"	"p.?"	"4i"
"0000905760"	"00016902"	"70"	"856"	"-2"	"856"	"-2"	"c.856-2A>G"	"r.spl?"	"p.?"	"8i"
"0000905761"	"00016902"	"70"	"856"	"-2"	"856"	"-2"	"c.856-2A>G"	"r.spl?"	"p.?"	"8i"
"0000905762"	"00016902"	"70"	"877"	"0"	"910"	"0"	"c.877_910del"	"r.(?)"	"p.(Arg293Valfs*17)"	"9"
"0000905763"	"00016902"	"70"	"-396"	"0"	"1146"	"1"	"c.(?_-396)_(1146+1_1147-1)del"	"r.?"	"p.?"	""
"0000905764"	"00016902"	"70"	"-396"	"0"	"1146"	"1"	"c.(?_-396)_(1146+1_1147-1)del"	"r.?"	"p.?"	""
"0000905765"	"00016902"	"70"	"196"	"0"	"197"	"0"	"c.196_197del"	"r.(?)"	"p.(Lys66Aspfs*2)"	"3"
"0000905766"	"00016902"	"70"	"544"	"0"	"618"	"0"	"c.544_618del"	"r.(?)"	"p.(Glu182_Glu206del)"	"7"
"0000905767"	"00016902"	"70"	"615"	"0"	"615"	"0"	"c.615delC"	"r.(?)"	"p.(Tyr205*)"	"7"
"0000905768"	"00016902"	"70"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905769"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905770"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905771"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905772"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905773"	"00016902"	"70"	"541"	"0"	"541"	"0"	"c.541G>T"	"r.(?)"	"p.(Glu181*)"	"7"
"0000905774"	"00016902"	"70"	"1374"	"654"	"1374"	"654"	"c.1374+654C>G"	"r.(=)"	"p.(=)"	"13i"
"0000905775"	"00016902"	"70"	"1374"	"654"	"1374"	"654"	"c.1374+654C>G"	"r.(=)"	"p.(=)"	"13i"
"0000905776"	"00016902"	"90"	"269"	"0"	"273"	"0"	"c.269_273del"	"r.(?)"	"p.(Tyr90Cysfs*21)"	"4"
"0000905777"	"00016902"	"90"	"527"	"2"	"527"	"2"	"c.527+2T>C"	"r.spl?"	"p.?"	"6i"
"0000905778"	"00016902"	"90"	"666"	"0"	"666"	"0"	"c.666dup"	"r.(?)"	"p.(Ile223Tyrfs*56)"	"7"
"0000905779"	"00016902"	"90"	"709"	"0"	"734"	"0"	"c.709_734dup"	"r.(?)"	"p.(Cys247*)"	"8"
"0000905780"	"00016902"	"90"	"873"	"0"	"897"	"0"	"c.873_897dup"	"r.(?)"	"p.(Thr300Glyfs*32)"	"9"
"0000905781"	"00016902"	"90"	"997"	"0"	"997"	"0"	"c.997del"	"r.(?)"	"p.(Glu333Serfs*5)"	"10"
"0000905782"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905783"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905784"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905785"	"00016902"	"10"	"377"	"0"	"377"	"0"	"c.377T>C"	"r.?"	"p.?"	"5"
"0000905786"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905787"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905788"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905789"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905790"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905791"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905792"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905793"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905794"	"00016902"	"90"	"59"	"0"	"65"	"0"	"c.59_65del"	"r.(?)"	"p.(Gly20Alafs*43)"	"2"
"0000905795"	"00016902"	"90"	"914"	"0"	"915"	"0"	"c.914_915insTGT"	"r.(?)"	"p.(Val305dup)"	"9"
"0000905796"	"00016902"	"90"	"914"	"0"	"915"	"0"	"c.914_915insTGT"	"r.(?)"	"p.(Val305dup)"	"9"
"0000905797"	"00016902"	"90"	"914"	"0"	"915"	"0"	"c.914_915insTGT"	"r.(?)"	"p.(Val305dup)"	"9"
"0000905798"	"00016902"	"90"	"196"	"0"	"197"	"0"	"c.196_197del"	"r.(?)"	"p.(Lys66Aspfs*2)"	"3"
"0000905799"	"00016902"	"90"	"544"	"0"	"618"	"0"	"c.544_618del"	"r.(?)"	"p.(Glu182_Glu206del)"	"7"
"0000905800"	"00016902"	"90"	"544"	"0"	"618"	"0"	"c.544_618del"	"r.(?)"	"p.(Glu182_Glu206del)"	"7"
"0000905801"	"00016902"	"10"	"528"	"-78"	"528"	"-75"	"c.528-78_528-75del"	"r.?"	"p.?"	""
"0000905802"	"00016902"	"50"	"615"	"0"	"615"	"0"	"c.615del"	"r.(?)"	"p.(Tyr205*)"	"7"
"0000905803"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905804"	"00016902"	"90"	"895"	"0"	"895"	"0"	"c.895T>C"	"r.(?)"	"p.(Cys299Arg)"	"9"
"0000905805"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905806"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905807"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905808"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905809"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905810"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905811"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905812"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905813"	"00016902"	"90"	"1074"	"-2"	"1074"	"-2"	"c.1074-2A>T"	"r.spl?"	"p.?"	"10i"
"0000905814"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905815"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905816"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905817"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905818"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905819"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905820"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905821"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905822"	"00016902"	"90"	"824"	"0"	"825"	"0"	"c.824_825insA"	"r.(?)"	"p.(Tyr275*)"	"8"
"0000905823"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905824"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905825"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905826"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905827"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905828"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905829"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905830"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905831"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905832"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905833"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905834"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905835"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905836"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905837"	"00016902"	"90"	"1115"	"0"	"1125"	"0"	"c.1115_1125del"	"r.(?)"	"p.(Arg372Glnfs*99)"	"11"
"0000905957"	"00016902"	"70"	"240"	"0"	"241"	"0"	"c.240_241insT"	"r.(?)"	"p.(Met81Tyrfs*9)"	""
"0000905958"	"00016902"	"70"	"240"	"0"	"241"	"0"	"c.240_241insT"	"r.(?)"	"p.(Met81Tyrfs*9)"	""
"0000915820"	"00016902"	"70"	"1374"	"654"	"1374"	"654"	"c.1374+654C>G"	"r.(=)"	"p.(?)"	"13i"
"0000915912"	"00016902"	"70"	"1142"	"0"	"1142"	"0"	"c.1142del"	"r.(?)"	"p.(Gly381Glufs*32)"	"11"
"0000915941"	"00016902"	"90"	"335"	"0"	"335"	"0"	"c.335del"	"r.(?)"	"p.(Lys112Serfs*86)"	"5"
"0000915964"	"00016902"	"70"	"527"	"3"	"527"	"3"	"c.527+3A>G"	"r.spl?"	"p.(?)"	"6i"
"0000916002"	"00016902"	"70"	"528"	"-39"	"531"	"0"	"c.528-39_531del"	"r.?"	"p.(?)"	"6i_7"
"0000916019"	"00016902"	"90"	"359"	"0"	"359"	"0"	"c.359del"	"r.(?)"	"p.(Lys120Argfs*78)"	"5"
"0000916023"	"00016902"	"90"	"359"	"0"	"359"	"0"	"c.359del"	"r.(?)"	"p.(Lys120Argfs*78)"	"5"
"0000916089"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354*)"	"10"
"0000916132"	"00016902"	"90"	"1462"	"0"	"1472"	"0"	"c.1462_1472del"	"r.(?)"	"p.(Lys488Argfs*75)"	"14"
"0000916208"	"00016902"	"70"	"239"	"-1"	"1374"	"1"	"c.(238+1_239-1)_(1374+1_1375-1)del"	"r.?"	"p.(Val80Glyfs*16)"	""
"0000916248"	"00016902"	"90"	"245"	"0"	"246"	"0"	"c.245_246del"	"r.(?)"	"p.(Gly82Alafs*7)"	"4"
"0000916379"	"00016902"	"70"	"1462"	"0"	"1472"	"0"	"c.1462_1472del"	"r.(?)"	"p.(Lys488Argfs*75)"	"14"
"0000916404"	"00016902"	"70"	"1077"	"0"	"1077"	"0"	"c.1077C>A"	"r.(?)"	"p.(Tyr359*)"	"11"
"0000916471"	"00016902"	"70"	"946"	"-6"	"966"	"0"	"c.946-6_966del"	"r.?"	"p.(?)"	"9i_10"
"0000916617"	"00016902"	"90"	"615"	"0"	"615"	"0"	"c.615C>G"	"r.(?)"	"p.(Tyr205*)"	"7"
"0000926941"	"00016902"	"30"	"178"	"-19"	"178"	"-19"	"c.178-19G>C"	"r.(=)"	"p.(=)"	""
"0000931569"	"00016902"	"90"	"328"	"0"	"330"	"0"	"c.328_330del"	"r.(?)"	"p.(Ile110del)"	""
"0000944538"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.-396_*287{0}"	"r.0"	"p.0"	"_1_14_"
"0000944539"	"00016902"	"90"	"-9"	"906"	"247"	"0"	"c.-9+906_247del"	"r.?"	"p.?"	"1i_4"
"0000951359"	"00016902"	"30"	"239"	"-12"	"239"	"-12"	"c.239-12G>A"	"r.(=)"	"p.(=)"	""
"0000955404"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.-396_239-98{0}"	"r.0?"	"p.0?"	"_1_3i"
"0000957990"	"00016902"	"90"	"239"	"-2"	"239"	"-2"	"c.239-2A>G"	"r.spl"	"p.?"	""
"0000957994"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000957995"	"00016902"	"90"	"358"	"0"	"359"	"0"	"c.358_359del"	"r.(?)"	"p.(Lys120GlufsTer4)"	""
"0000958002"	"00016902"	"90"	"217"	"0"	"217"	"0"	"c.217A>T"	"r.(?)"	"p.(Lys73Ter)"	""
"0000958004"	"00016902"	"90"	"238"	"515"	"1375"	"-917"	"c.238+515_1375-917del"	"r.?"	"p.?"	""
"0000958005"	"00016902"	"90"	"946"	"-2"	"946"	"-2"	"c.946-2A>C"	"r.spl"	"p.?"	""
"0000958006"	"00016902"	"90"	"238"	"515"	"1375"	"-917"	"c.238+515_1375-917del"	"r.?"	"p.?"	""
"0000958007"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000958009"	"00016902"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000958018"	"00016902"	"90"	"395"	"0"	"395"	"0"	"c.395del"	"r.(?)"	"p.(Ala132AspfsTer66)"	""
"0000958019"	"00016902"	"90"	"1126"	"0"	"1129"	"0"	"c.1126_1129dup"	"r.(?)"	"p.(Arg377GlnfsTer99)"	""
"0000958022"	"00016902"	"70"	"1462"	"0"	"1472"	"0"	"c.1462_1472del"	"r.(?)"	"p.(Lys488ArgfsTer75)"	""
"0000958084"	"00016902"	"90"	"239"	"-620"	"1375"	"-747"	"c.239-620_1375-747del"	"r.?"	"p.?"	""
"0000958322"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000958337"	"00016902"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000958349"	"00016902"	"70"	"1275"	"1"	"1275"	"1"	"c.1275+1G>T"	"r.spl"	"p.?"	""
"0000958370"	"00016902"	"90"	"1146"	"2"	"1146"	"2"	"c.1146+2T>G"	"r.spl"	"p.?"	""
"0000958381"	"00016902"	"70"	"238"	"705"	"1375"	"-727"	"c.238+705_1375-727del"	"r.?"	"p.?"	""
"0000958382"	"00016902"	"70"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Cys299Tyr)"	""
"0000958932"	"00016902"	"50"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.(?)"	"p.(Asp192Asn)"	""
"0000958935"	"00016902"	"50"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.?"	""
"0000958937"	"00016902"	"50"	"856"	"-3"	"856"	"-3"	"c.856-3C>G"	"r.spl?"	"p.?"	""
"0000959255"	"00016902"	"50"	"793"	"0"	"793"	"0"	"c.793A>G"	"r.(?)"	"p.(Thr265Ala)"	""
"0000959370"	"00016902"	"50"	"-349"	"0"	"-349"	"0"	"c.-349del"	"r.?"	"p.?"	""
"0000969887"	"00016902"	"70"	"77"	"0"	"78"	"0"	"c.77_78insC"	"r.(?)"	"p.(Glu26AspfsTer32)"	""
"0000969888"	"00016902"	"30"	"862"	"0"	"862"	"0"	"c.862C>A"	"r.(?)"	"p.(=)"	""
"0000983642"	"00016902"	"90"	"669"	"0"	"669"	"0"	"c.669del"	"r.(?)"	"p.(Ile223Metfs*16)"	""
"0000983643"	"00016902"	"30"	"1073"	"5"	"1073"	"5"	"c.1073+5G>A"	"r.spl?"	"p.?"	""
"0001015830"	"00016902"	"30"	"946"	"-12"	"946"	"-12"	"c.946-12C>T"	"r.(=)"	"p.(=)"	""
"0001019652"	"00016902"	"90"	"855"	"829"	"1375"	"-692"	"c.855+829_1375-692del"	"r.(856_1374del)"	"p.(Asp286_Gln458del)"	"8i_13i"
"0001019653"	"00016902"	"90"	"-16646"	"0"	"-9"	"285"	"c.-16646_-9+285del"	"r.0?"	"p.0?"	"_1_1i"
"0001019654"	"00016902"	"90"	"421"	"-285"	"855"	"895"	"c.421-285_855+895del"	"r.(421_855del)"	"p.(Glu141_Pro285del)"	"5i_8i"
"0001022277"	"00016902"	"90"	"573"	"0"	"573"	"0"	"c.573C>A"	"r.(?)"	"p.(Cys191Ter)"	""
"0001022279"	"00016902"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Ter)"	""
"0001027266"	"00016902"	"70"	"178"	"-1"	"178"	"-1"	"c.178-1G>A"	"r.spl?"	"p.?"	""
"0001043159"	"00016902"	"50"	"607"	"0"	"607"	"0"	"c.607C>T"	"r.(?)"	"p.(Arg203Cys)"	""
"0001043160"	"00016902"	"50"	"1222"	"0"	"1222"	"0"	"c.1222C>T"	"r.(?)"	"p.(Arg408Trp)"	""
"0001043161"	"00016902"	"30"	"4292"	"0"	"4293"	"0"	"c.*2792_*2793del"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 839
"{{screeningid}}"	"{{variantid}}"
"0000001587"	"0000019482"
"0000001602"	"0000019504"
"0000001606"	"0000019508"
"0000033215"	"0000060166"
"0000033236"	"0000060167"
"0000105521"	"0000170969"
"0000105521"	"0000170970"
"0000208737"	"0000438686"
"0000234608"	"0000477316"
"0000234609"	"0000477317"
"0000234610"	"0000477318"
"0000234611"	"0000477319"
"0000234612"	"0000477320"
"0000234613"	"0000477321"
"0000234614"	"0000477322"
"0000234615"	"0000477323"
"0000234616"	"0000477324"
"0000234617"	"0000477325"
"0000234618"	"0000477326"
"0000234619"	"0000477327"
"0000271090"	"0000624949"
"0000271095"	"0000624954"
"0000293363"	"0000650052"
"0000301723"	"0000664773"
"0000301724"	"0000664774"
"0000308837"	"0000683271"
"0000310453"	"0000685364"
"0000310454"	"0000685365"
"0000310455"	"0000685366"
"0000310456"	"0000685367"
"0000310812"	"0000685830"
"0000321215"	"0000704021"
"0000321216"	"0000704022"
"0000321217"	"0000704023"
"0000321218"	"0000704024"
"0000321219"	"0000704025"
"0000321220"	"0000704026"
"0000321221"	"0000704027"
"0000321222"	"0000704028"
"0000321223"	"0000704029"
"0000321224"	"0000704030"
"0000321361"	"0000704190"
"0000326694"	"0000710286"
"0000326703"	"0000710295"
"0000326735"	"0000710327"
"0000329176"	"0000713299"
"0000329306"	"0000713429"
"0000329340"	"0000713463"
"0000329363"	"0000713486"
"0000332505"	"0000729760"
"0000333426"	"0000731001"
"0000333760"	"0000731550"
"0000334581"	"0000732437"
"0000334607"	"0000732539"
"0000334733"	"0000732740"
"0000334734"	"0000732741"
"0000334735"	"0000732742"
"0000334736"	"0000732743"
"0000334737"	"0000732744"
"0000334754"	"0000732761"
"0000334791"	"0000732798"
"0000334792"	"0000732799"
"0000334793"	"0000732800"
"0000334794"	"0000732801"
"0000334795"	"0000732802"
"0000334815"	"0000732822"
"0000334816"	"0000732823"
"0000334817"	"0000732824"
"0000334818"	"0000732825"
"0000335653"	"0000734347"
"0000335654"	"0000734348"
"0000335655"	"0000734349"
"0000335804"	"0000734710"
"0000336374"	"0000735649"
"0000336375"	"0000735650"
"0000336537"	"0000735933"
"0000336543"	"0000735939"
"0000336544"	"0000735940"
"0000336625"	"0000736070"
"0000336635"	"0000736080"
"0000336670"	"0000736115"
"0000336800"	"0000736336"
"0000336801"	"0000736337"
"0000336802"	"0000736338"
"0000336803"	"0000736339"
"0000336804"	"0000736340"
"0000336805"	"0000736341"
"0000336806"	"0000736342"
"0000336807"	"0000736343"
"0000336808"	"0000736344"
"0000336881"	"0000736419"
"0000336882"	"0000736420"
"0000336883"	"0000736421"
"0000336884"	"0000736422"
"0000336885"	"0000736423"
"0000336886"	"0000736424"
"0000336887"	"0000736425"
"0000336888"	"0000736426"
"0000336889"	"0000736427"
"0000336890"	"0000736428"
"0000336891"	"0000736429"
"0000337180"	"0000736804"
"0000359962"	"0000759593"
"0000360010"	"0000759652"
"0000360011"	"0000759653"
"0000360012"	"0000759654"
"0000360013"	"0000759655"
"0000360014"	"0000759656"
"0000360168"	"0000759895"
"0000360237"	"0000760127"
"0000360271"	"0000760163"
"0000360350"	"0000760242"
"0000360362"	"0000760254"
"0000360374"	"0000760266"
"0000360376"	"0000760268"
"0000360399"	"0000760291"
"0000360425"	"0000760317"
"0000360449"	"0000760341"
"0000363489"	"0000764179"
"0000364116"	"0000764878"
"0000364632"	"0000765507"
"0000364648"	"0000765523"
"0000364735"	"0000765639"
"0000364736"	"0000765640"
"0000373291"	"0000783262"
"0000373308"	"0000783280"
"0000373314"	"0000783286"
"0000373315"	"0000783287"
"0000373880"	"0000784193"
"0000374588"	"0000785380"
"0000374596"	"0000785388"
"0000374701"	"0000785524"
"0000374703"	"0000785526"
"0000375071"	"0000786338"
"0000376108"	"0000787641"
"0000376114"	"0000787647"
"0000376116"	"0000787649"
"0000376499"	"0000788107"
"0000376500"	"0000788108"
"0000376535"	"0000788143"
"0000376644"	"0000788537"
"0000376645"	"0000788538"
"0000377385"	"0000789705"
"0000377687"	"0000790102"
"0000377688"	"0000790104"
"0000377689"	"0000790106"
"0000377690"	"0000790108"
"0000377691"	"0000790110"
"0000377692"	"0000790112"
"0000377693"	"0000790114"
"0000377694"	"0000790116"
"0000377695"	"0000790118"
"0000377696"	"0000790119"
"0000377697"	"0000790120"
"0000377698"	"0000790121"
"0000377699"	"0000790122"
"0000377700"	"0000790123"
"0000377701"	"0000790124"
"0000377702"	"0000790125"
"0000377703"	"0000790126"
"0000377704"	"0000790127"
"0000377705"	"0000790128"
"0000378019"	"0000790678"
"0000378027"	"0000790687"
"0000378029"	"0000790689"
"0000378241"	"0000790936"
"0000378242"	"0000790937"
"0000378371"	"0000791126"
"0000378372"	"0000791127"
"0000378599"	"0000791448"
"0000378600"	"0000791449"
"0000378601"	"0000791450"
"0000378602"	"0000791451"
"0000378603"	"0000791452"
"0000378604"	"0000791453"
"0000378605"	"0000791454"
"0000378606"	"0000791455"
"0000378607"	"0000791456"
"0000378608"	"0000791457"
"0000378609"	"0000791458"
"0000378610"	"0000791459"
"0000378611"	"0000791460"
"0000378612"	"0000791461"
"0000378613"	"0000791462"
"0000378614"	"0000791463"
"0000378708"	"0000791557"
"0000378709"	"0000791558"
"0000378710"	"0000791559"
"0000378711"	"0000791560"
"0000378712"	"0000791561"
"0000378929"	"0000791919"
"0000378932"	"0000791922"
"0000379144"	"0000792240"
"0000380543"	"0000793686"
"0000380731"	"0000793907"
"0000380815"	"0000794013"
"0000380816"	"0000794014"
"0000381062"	"0000794357"
"0000381063"	"0000794358"
"0000381064"	"0000794359"
"0000381392"	"0000794823"
"0000381405"	"0000794844"
"0000381406"	"0000794845"
"0000381435"	"0000794893"
"0000382059"	"0000795712"
"0000382060"	"0000795713"
"0000382061"	"0000795714"
"0000382062"	"0000795715"
"0000382063"	"0000795716"
"0000382064"	"0000795717"
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