### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SNRNP200)
# 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}}"
"SNRNP200"	"small nuclear ribonucleoprotein 200kDa (U5)"	"2"	"q11.2"	"unknown"	"NG_016973.1"	"UD_132084492727"	""	"http://www.LOVD.nl/SNRNP200"	""	"1"	"30859"	"23020"	"601664"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	""	"g"	"http://databases.lovd.nl/shared/refseq/SNRNP200_NM_014014.4_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-01-06 00:00:00"	"00006"	"2015-02-28 14:02:51"	"00006"	"2025-04-07 13:47:05"


## 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}}"
"00019945"	"SNRNP200"	"small nuclear ribonucleoprotein 200kDa (U5)"	"001"	"NM_014014.4"	""	"NP_054733.2"	""	""	""	"-132"	"7087"	"6411"	"96971307"	"96940074"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02156"	"-"	"retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness"	""	"300455"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02933"	"RP33"	"retinitis pigmentosa, type 33 (RP33)"	"AD"	"610359"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SNRNP200"	"02933"


## Individuals ## Do not remove or alter this header ##
## Count = 305
"{{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}}"
"00000014"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00001792"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00033095"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033105"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033116"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033118"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033119"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033123"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033125"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033145"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033678"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2014:24516651}"	""	""	"no"	"Spain"	""	"0"	""	""	""	""
"00232304"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232305"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232306"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232307"	""	""	""	"8"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232308"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232309"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232310"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232311"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232312"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232313"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232314"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232315"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232316"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232317"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232318"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232319"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232320"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232321"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232322"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232323"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232324"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232325"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00309425"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00325525"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"single patient"	""	""	"Mexico"	""	"0"	""	""	""	"4020"
"00328013"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001051"
"00328420"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690997"
"00328436"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690721"
"00332257"	""	""	""	"2"	""	"00000"	"{PMID:Astuti 2018:29320387}"	"3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	""	"yes"	"Pakistan"	""	"0"	""	""	""	"FamG"
"00333355"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat15"
"00333616"	""	""	""	"3"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 3 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"326"
"00333859"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"79"
"00334429"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"family"	""	""	"China"	""	"0"	""	""	""	"RP-62"
"00334440"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"family"	""	""	"China"	""	"0"	""	""	""	"RP-083"
"00335564"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_022"
"00335565"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_023"
"00335566"	""	""	""	"1"	""	"00000"	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Belgium"	""	"0"	""	""	""	"FAM_024"
"00335731"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP22"
"00335738"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP37"
"00335739"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP64"
"00335740"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP101"
"00335741"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP102"
"00335742"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP134"
"00335743"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP157"
"00359104"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13003141"
"00359123"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12010984"
"00359173"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12012775"
"00359176"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13007688"
"00359195"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13009597"
"00362073"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT994"
"00363415"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2015:26720483}"	"index patient"	""	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00363416"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2015:26720483}"	"index patient"	""	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00363417"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2015:26720483}"	"index patient"	""	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00363418"	""	""	""	"1"	""	"00000"	"{PMID:Coussa 2015:26720483}"	"index patient"	""	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00363641"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG0274"
"00363680"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0322"
"00372623"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP314"
"00372632"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP311"
"00372633"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP144"
"00372634"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP230"
"00372635"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP399"
"00372672"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP398"
"00372711"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP229"
"00372749"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP376"
"00373483"	""	""	""	"4"	""	"00000"	"{PMID:Fernandez-San Jose 2015:25698705}"	"family, 4 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP1641"
"00373484"	""	""	""	"3"	""	"00000"	"{PMID:Fernandez-San Jose 2015:25698705}"	"family, 3 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP0723"
"00373861"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2015:25472526}"	"family"	""	""	"Northern Ireland"	""	"0"	""	""	""	"Rp142"
"00373925"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-059-141"
"00374897"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"F"	""	"China"	""	"0"	""	""	""	"W55-1"
"00374931"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"W59-1"
"00375289"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6229"
"00375290"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6446"
"00375344"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6500"
"00375431"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#025"
"00375449"	""	""	""	"2"	""	"00000"	"{PMID:Pan 2014:24940031}"	"2-generation family, 2 affected (2F)"	""	""	"China"	""	"0"	""	""	""	"Fam02"
"00375450"	""	""	""	"6"	""	"00000"	"{PMID:Pan 2014:24940031}"	"4-generation family, 6 affected (2F, 4M)"	""	""	"China"	""	"0"	""	""	""	"Fam03"
"00376777"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"42"
"00376784"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"50"
"00376785"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"52"
"00376791"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"58"
"00376794"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"61"
"00376817"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"RFS048"
"00376825"	""	""	""	"1"	""	"00000"	"{PMID:Daiger 2014:24664689}"	""	""	""	"United States"	""	"0"	""	""	""	"UTAD565"
"00377480"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377481"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377482"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377483"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377484"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377485"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00379432"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379451"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379749"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0092"
"00379895"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"F"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016102429"
"00380851"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380852"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00380853"	""	""	""	"1"	""	"00000"	"{PMID:Wu 2018:30360737}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00381241"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"patient carry homozygous novel missense mutation in other retinal disease genes"	""	"no"	""	""	"0"	""	""	""	""
"00381676"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381705"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381819"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	""	""	""	"0"	""	""	""	""
"00381908"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"58"
"00381909"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"59"
"00381910"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"60"
"00382439"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"268"
"00382604"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"467"
"00384299"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"13527"
"00384424"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14438"
"00385054"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19896"
"00385621"	""	""	""	"4"	""	"00000"	"{PMID:de Castro-Miró-2014:24516651}"	""	""	""	""	""	"0"	""	""	""	"6ORG"
"00386257"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-232, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-602"
"00386301"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-44"
"00386610"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-030"
"00386647"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-188"
"00386656"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-230"
"00386670"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-599"
"00386794"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2950_004535"
"00386916"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32090030}"	""	"F"	"no"	""	""	"0"	""	""	""	"RP03-II:1"
"00386919"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32090030}"	"daughter of RP03-II:1"	"F"	"no"	""	""	"0"	""	""	""	"RP03-III:1"
"00387029"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"55"
"00387030"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"56"
"00387031"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Afr. Am."	"57"
"00388893"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 68, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"177"
"00388931"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 76, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"215"
"00388932"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 76, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"216"
"00388933"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 76, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"217"
"00389142"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 136, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"426"
"00389143"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 136, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"427"
"00389144"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 136, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"428"
"00389464"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 289, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"748"
"00389465"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 289, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"749"
"00389466"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 289, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"750"
"00389467"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 289, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"751"
"00389491"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 301, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"775"
"00389492"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 301, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"776"
"00389493"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 301, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"777"
"00389520"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 320, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"804"
"00389570"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 352, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"854"
"00389580"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 357, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"864"
"00389675"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 428, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"959"
"00389775"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 658, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1059"
"00389798"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 714, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1082"
"00389942"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 967, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1226"
"00389987"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1088, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1271"
"00389995"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1096, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1279"
"00390403"	""	""	""	"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"	""	""	""	"G001051"
"00390924"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00392119"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s sister 1"	"F"	""	"Spain"	""	"0"	""	""	""	"RP-198"
"00392120"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s sister 2"	"F"	""	"Spain"	""	"0"	""	""	""	"RP-199"
"00392121"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father"	"M"	""	"Spain"	""	"0"	""	""	""	"RP-200"
"00392122"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s brother"	"M"	""	"Spain"	""	"0"	""	""	""	"RP-201"
"00392123"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-316"
"00392124"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s cousin"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-196"
"00392125"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common)"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-572"
"00392128"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common)"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-573"
"00392130"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common)"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-575"
"00392135"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-142, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-301"
"00392144"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s sister 1"	"F"	""	"Spain"	""	"0"	""	""	""	"RP-198"
"00392145"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s sister 2"	"F"	""	"Spain"	""	"0"	""	""	""	"RP-199"
"00392146"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father"	"M"	""	"Spain"	""	"0"	""	""	""	"RP-200"
"00392147"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s brother"	"M"	""	"Spain"	""	"0"	""	""	""	"RP-201"
"00392148"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-316"
"00392149"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, proband\'s father\'s cousin"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-196"
"00392150"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common)"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-572"
"00392153"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common)"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-573"
"00392155"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common)"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-575"
"00392160"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-142, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-301"
"00392327"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"191182"
"00392337"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19142"
"00392363"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19537"
"00392370"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"19634"
"00392381"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"19756"
"00392390"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"19958"
"00392392"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"19998"
"00392394"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"M"	""	"China"	""	"0"	""	""	""	"114"
"00392595"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"53"
"00392667"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"160"
"00393544"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393566"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393699"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393797"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00394538"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394539"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394540"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394541"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00395928"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F041"
"00395944"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F225"
"00396558"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00396629"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00396646"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00416471"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"3"
"00416472"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"5"
"00416473"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"7"
"00416474"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"F"	""	"China"	""	"0"	""	""	"Han Chinese"	"8"
"00416475"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"F"	""	"China"	""	"0"	""	""	"Han Chinese"	"10"
"00416476"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"F"	""	"China"	""	"0"	""	""	"Han Chinese"	"12"
"00416477"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"14"
"00416478"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"15"
"00416479"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"17"
"00416480"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"F"	""	"China"	""	"0"	""	""	"Han Chinese"	"18"
"00416481"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"M"	""	"China"	""	"0"	""	""	"Han Chinese"	"19"
"00416482"	""	""	""	"1"	""	"00000"	"{PMID:Li 2010:19710410}"	"Family TEH1"	"F"	""	"China"	""	"0"	""	""	"Han Chinese"	"21"
"00416483"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00416484"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:2"
"00416485"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:1"
"00416486"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:2"
"00416487"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:7"
"00416488"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:9"
"00416489"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:13"
"00416490"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:15"
"00416491"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:16"
"00416492"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:1"
"00416493"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:3"
"00416494"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2009:19878916}"	"RP33-linked family"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:5"
"00416500"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"M"	""	""	""	"0"	""	""	"North American"	"001-303"
"00416501"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"M"	""	""	""	"0"	""	""	"North American"	"218-456"
"00416502"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"F"	""	""	""	"0"	""	""	"North American"	"218-480"
"00416503"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"M"	""	""	""	"0"	""	""	"North American"	"226-1952"
"00416504"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-046"
"00416505"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-061"
"00416506"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-051"
"00416507"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-485"
"00416508"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"F"	""	""	""	"0"	""	""	"North American"	"001-107"
"00416509"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"F"	""	""	""	"0"	""	""	"North American"	"001-130"
"00416510"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	"F"	""	""	""	"0"	""	""	"North American"	"226-1833"
"00416511"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-085"
"00416512"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-212"
"00416513"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-367"
"00416514"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-090"
"00416515"	""	""	""	"1"	""	"00000"	"{PMID:Benaglio 2011:21618346}"	""	""	""	""	""	"0"	""	""	"North American"	"001-060"
"00416516"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2012:23029027}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00416517"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2012:23029027}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:3"
"00416518"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2012:23029027}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:9"
"00416519"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2012:23029027}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:6"
"00416520"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2012:23029027}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:7"
"00416521"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2013:23887765}"	"71y in the table and 82y in text"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416522"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2013:23887765}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416523"	""	""	""	"1"	""	"00000"	"{PMID:Cvackova 2014:24302620}"	"cell line experiment"	""	""	""	""	"0"	""	""	""	"?"
"00416524"	""	""	""	"1"	""	"00000"	"{PMID:Cvackova 2014:24302620}"	"cell line experiment"	""	""	""	""	"0"	""	""	""	"?"
"00416526"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family RFS048, individual 5420"	"F"	""	""	""	"0"	""	""	""	"RFS048-5420"
"00416527"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family RFS048, individual 4884"	"M"	""	""	""	"0"	""	""	""	"RFS048-4884"
"00416528"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family RFS048, individual 4879"	"F"	""	""	""	"0"	""	""	""	"RFS048-4879"
"00416529"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family RFS910, individual 01"	"F"	""	""	""	"0"	""	""	""	"RFS910-01"
"00416530"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD543, individual 01"	"F"	""	""	""	"0"	""	""	""	"UTAD543-01"
"00416531"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD565, individual 02"	"F"	""	""	""	"0"	""	""	""	"UTAD565-02"
"00416532"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD565, individual 01"	"F"	""	""	""	"0"	""	""	""	"UTAD565-01"
"00416533"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD565, individual 00"	"F"	""	""	""	"0"	""	""	""	"UTAD565-00"
"00416534"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD701, individual 01"	"F"	""	""	""	"0"	""	""	""	"UTAD701-01"
"00416535"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD728, individual 01"	"F"	""	""	""	"0"	""	""	""	"UTAD728-01"
"00416536"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD728, individual 02"	"M"	""	""	""	"0"	""	""	""	"UTAD728-02"
"00416537"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD728, individual 03"	"M"	""	""	""	"0"	""	""	""	"UTAD728-03"
"00416538"	""	""	""	"1"	""	"00000"	"{PMID:Bowne 2013:24319334}"	"family UTAD786, individual 01"	"F"	""	""	""	"0"	""	""	""	"UTAD786-01"
"00416539"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2013:24499697}"	"four-generation Chinese family with autosomal dominant retinitis pigmentosa; only abstract avaialble in English"	""	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416540"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2013:24499697}"	"four-generation Chinese family with autosomal dominant retinitis pigmentosa; only abstract avaialble in English"	""	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416541"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2013:24499697}"	"four-generation Chinese family with autosomal dominant retinitis pigmentosa; only abstract avaialble in English"	""	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416542"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2013:24499697}"	"four-generation Chinese family with autosomal dominant retinitis pigmentosa; only abstract avaialble in English"	""	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416543"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2013:24499697}"	"four-generation Chinese family with autosomal dominant retinitis pigmentosa; only abstract avaialble in English"	""	""	"China"	""	"0"	""	""	"Chinese"	"?"
"00416544"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"F"	"no"	"Switzerland"	""	"0"	""	""	""	"A_II:2"
"00416545"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"F"	"no"	"Switzerland"	""	"0"	""	""	""	"A_II:4"
"00416546"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"M"	"no"	"Switzerland"	""	"0"	""	""	""	"A_II:5"
"00416547"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"M"	"no"	"Switzerland"	""	"0"	""	""	""	"A_III:1"
"00416548"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"F"	"no"	"Switzerland"	""	"0"	""	""	""	"A_III:3"
"00416549"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-Kahlert 2019:31260034}"	"parents healthy mutation carriers"	"M"	"no"	"Kosovo"	""	"0"	""	""	""	"B_II:1"
"00416551"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"1"
"00416552"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"2"
"00416553"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"3"
"00416554"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"4"
"00416555"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"5"
"00416556"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"6"
"00416557"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	"sibling of 8"	""	""	""	""	"0"	""	""	""	"7"
"00416558"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	"sibling of 7"	""	""	""	""	"0"	""	""	""	"8"
"00416559"	""	""	""	"1"	""	"00000"	"{PMID:Yusuf 2019:31486839}"	""	""	""	""	""	"0"	""	""	""	"9"
"00420421"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F041"
"00420532"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F225"
"00420828"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 6269, individual II:1; 2-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"6269_II:1"
"00420829"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 22438, individual II:1; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"22438_II:1"
"00420830"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 13663, individual II:1; 2-generation family, 3 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"13663_II:1"
"00420831"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 6606, individual II:1; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"6606_II:1"
"00420832"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 12152, individual II:2; parents healthy, untested"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"12152_II:2"
"00420833"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 6783, individual I:2; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"6783_I:2"
"00420834"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 6783, individual II:1; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"6783_II:1"
"00420835"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 7984, individual II:3; 2-generation family, 3 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"7984_II:3"
"00424052"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2021:33553197}"	"father of III-1"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II-2"
"00424053"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2021:33553197}"	"son of II-2"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III-1"
"00429500"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429518"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429799"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429842"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429844"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429936"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430062"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00436454"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"no"	"Mexico"	""	""	""	"none"	"Hispanic"	"2850758"
"00446925"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-15"
"00447488"	""	""	""	"3"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-462"
"00447502"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-427"
"00447711"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1213"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 306
"{{individualid}}"	"{{diseaseid}}"
"00000014"	"00138"
"00000014"	"05378"
"00001792"	"00112"
"00033095"	"04214"
"00033105"	"04214"
"00033116"	"04214"
"00033118"	"04214"
"00033119"	"04214"
"00033123"	"04214"
"00033125"	"04214"
"00033145"	"04214"
"00033678"	"04214"
"00232304"	"04214"
"00232305"	"04214"
"00232306"	"04214"
"00232307"	"04214"
"00232308"	"04214"
"00232309"	"04214"
"00232310"	"04214"
"00232311"	"04214"
"00232312"	"04214"
"00232313"	"04214"
"00232314"	"04214"
"00232315"	"04214"
"00232316"	"04214"
"00232317"	"04214"
"00232318"	"04214"
"00232319"	"04214"
"00232320"	"04214"
"00232321"	"04214"
"00232322"	"04214"
"00232323"	"04214"
"00232324"	"04214"
"00232325"	"04214"
"00309425"	"04214"
"00325525"	"04214"
"00328013"	"04214"
"00328420"	"04214"
"00328436"	"04214"
"00332257"	"04214"
"00333355"	"04214"
"00333616"	"04214"
"00333859"	"04214"
"00334429"	"04214"
"00334440"	"04214"
"00335564"	"04214"
"00335565"	"04214"
"00335566"	"04214"
"00335731"	"04214"
"00335738"	"04214"
"00335739"	"04214"
"00335740"	"04214"
"00335741"	"04214"
"00335742"	"04214"
"00335743"	"04214"
"00359104"	"04214"
"00359123"	"04214"
"00359173"	"04214"
"00359176"	"04214"
"00359195"	"04214"
"00362073"	"04214"
"00363415"	"04214"
"00363416"	"04214"
"00363417"	"04214"
"00363418"	"04214"
"00363641"	"04214"
"00363680"	"04214"
"00372623"	"04214"
"00372632"	"04214"
"00372633"	"04214"
"00372634"	"04214"
"00372635"	"04214"
"00372672"	"04214"
"00372711"	"04214"
"00372749"	"04214"
"00373483"	"04214"
"00373484"	"04214"
"00373861"	"04214"
"00373925"	"04214"
"00374897"	"04214"
"00374931"	"04214"
"00375289"	"04214"
"00375290"	"04214"
"00375344"	"04214"
"00375431"	"04214"
"00375449"	"04214"
"00375450"	"04214"
"00376777"	"04214"
"00376784"	"04214"
"00376785"	"04214"
"00376791"	"04214"
"00376794"	"04214"
"00376817"	"04214"
"00376825"	"04214"
"00377480"	"04214"
"00377481"	"04214"
"00377482"	"04214"
"00377483"	"04214"
"00377484"	"04214"
"00377485"	"04214"
"00379432"	"04214"
"00379451"	"04214"
"00379749"	"00112"
"00379895"	"04214"
"00380851"	"04214"
"00380852"	"04214"
"00380853"	"04214"
"00381241"	"04214"
"00381676"	"04214"
"00381705"	"04214"
"00381819"	"04214"
"00381908"	"04214"
"00381909"	"04214"
"00381910"	"04214"
"00382439"	"04214"
"00382604"	"04214"
"00384299"	"04214"
"00384424"	"04214"
"00385054"	"04214"
"00385621"	"04214"
"00386257"	"04214"
"00386301"	"04214"
"00386610"	"04214"
"00386647"	"04214"
"00386656"	"04214"
"00386670"	"04214"
"00386794"	"04214"
"00386916"	"04214"
"00386919"	"04214"
"00387029"	"04214"
"00387030"	"04214"
"00387031"	"04214"
"00388893"	"04214"
"00388931"	"04214"
"00388932"	"04214"
"00388933"	"04214"
"00389142"	"04214"
"00389143"	"04214"
"00389144"	"04214"
"00389464"	"04214"
"00389465"	"04214"
"00389466"	"04214"
"00389467"	"04214"
"00389491"	"04214"
"00389492"	"04214"
"00389493"	"04214"
"00389520"	"04214"
"00389570"	"04214"
"00389580"	"04214"
"00389675"	"04214"
"00389775"	"04214"
"00389798"	"04214"
"00389942"	"04214"
"00389987"	"04214"
"00389995"	"04214"
"00390403"	"04214"
"00390924"	"04214"
"00392119"	"04214"
"00392120"	"04214"
"00392121"	"04214"
"00392122"	"04214"
"00392123"	"04214"
"00392124"	"04214"
"00392125"	"04214"
"00392128"	"04214"
"00392130"	"04214"
"00392135"	"04214"
"00392144"	"04214"
"00392145"	"04214"
"00392146"	"04214"
"00392147"	"04214"
"00392148"	"04214"
"00392149"	"04214"
"00392150"	"04214"
"00392153"	"04214"
"00392155"	"04214"
"00392160"	"04214"
"00392327"	"04214"
"00392337"	"04214"
"00392363"	"04214"
"00392370"	"04214"
"00392381"	"04214"
"00392390"	"04214"
"00392392"	"04214"
"00392394"	"04214"
"00392595"	"04214"
"00392667"	"04214"
"00393544"	"04214"
"00393566"	"04214"
"00393699"	"04214"
"00393797"	"04214"
"00394538"	"04214"
"00394539"	"04214"
"00394540"	"04214"
"00394541"	"04214"
"00395928"	"04214"
"00395944"	"04214"
"00396558"	"04214"
"00396629"	"04214"
"00396646"	"04214"
"00416471"	"04214"
"00416472"	"04214"
"00416473"	"04214"
"00416474"	"04214"
"00416475"	"04214"
"00416476"	"04214"
"00416477"	"04214"
"00416478"	"04214"
"00416479"	"04214"
"00416480"	"04214"
"00416481"	"04214"
"00416482"	"04214"
"00416483"	"04214"
"00416484"	"04214"
"00416485"	"04214"
"00416486"	"04214"
"00416487"	"04214"
"00416488"	"04214"
"00416489"	"04214"
"00416490"	"04214"
"00416491"	"04214"
"00416492"	"04214"
"00416493"	"04214"
"00416494"	"04214"
"00416500"	"04214"
"00416501"	"04214"
"00416502"	"04214"
"00416503"	"04214"
"00416504"	"04214"
"00416505"	"04214"
"00416506"	"04214"
"00416507"	"04214"
"00416508"	"04214"
"00416509"	"04214"
"00416510"	"04214"
"00416511"	"04214"
"00416512"	"04214"
"00416513"	"04214"
"00416514"	"04214"
"00416515"	"04214"
"00416516"	"04214"
"00416517"	"04214"
"00416518"	"04214"
"00416519"	"04214"
"00416520"	"04214"
"00416521"	"04214"
"00416522"	"04214"
"00416523"	"04214"
"00416524"	"04214"
"00416526"	"04214"
"00416527"	"04214"
"00416528"	"04214"
"00416529"	"04214"
"00416530"	"04214"
"00416531"	"04214"
"00416532"	"04214"
"00416533"	"04214"
"00416534"	"04214"
"00416535"	"04214"
"00416536"	"04214"
"00416537"	"04214"
"00416538"	"04214"
"00416539"	"04214"
"00416540"	"04214"
"00416541"	"04214"
"00416542"	"04214"
"00416543"	"04214"
"00416544"	"04214"
"00416545"	"04214"
"00416546"	"04214"
"00416547"	"04214"
"00416548"	"04214"
"00416549"	"04214"
"00416551"	"04214"
"00416552"	"04214"
"00416553"	"04214"
"00416554"	"04214"
"00416555"	"04214"
"00416556"	"04214"
"00416557"	"04214"
"00416558"	"04214"
"00416559"	"04214"
"00420421"	"04214"
"00420532"	"04214"
"00420828"	"04214"
"00420829"	"04214"
"00420830"	"04214"
"00420831"	"04214"
"00420832"	"04214"
"00420833"	"04214"
"00420834"	"04214"
"00420835"	"04214"
"00424052"	"04214"
"00424053"	"04214"
"00429500"	"00112"
"00429518"	"00112"
"00429799"	"00112"
"00429842"	"00112"
"00429844"	"00112"
"00429936"	"00112"
"00430062"	"00112"
"00436454"	"02156"
"00446925"	"00198"
"00447488"	"00198"
"00447502"	"00198"
"00447711"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00138, 00198, 02156, 02933, 04214, 05378
## Count = 281
"{{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}}"
"0000026524"	"04214"	"00033095"	"00229"	"Unknown"	"6y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026534"	"04214"	"00033105"	"00229"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026545"	"04214"	"00033116"	"00229"	"Unknown"	"50y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026547"	"04214"	"00033118"	"00229"	"Unknown"	"15y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026548"	"04214"	"00033119"	"00229"	"Unknown"	"44y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026552"	"04214"	"00033123"	"00229"	"Unknown"	"16y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026554"	"04214"	"00033125"	"00229"	"Unknown"	"5y"	"early onset; mild intellectual disability, obesitas"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026574"	"04214"	"00033145"	"00229"	"Unknown"	"11y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000027107"	"04214"	"00033678"	"01244"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234745"	"04214"	"00309425"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000244012"	"04214"	"00325525"	"00006"	"Unknown"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246240"	"04214"	"00328013"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246646"	"04214"	"00328420"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000246662"	"04214"	"00328436"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000250444"	"04214"	"00332257"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000251542"	"04214"	"00333355"	"00000"	"Familial, autosomal dominant"	"53y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251800"	"04214"	"00333616"	"00000"	"Familial, autosomal dominant"	"53y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252044"	"04214"	"00333859"	"00000"	"Familial, autosomal recessive"	"56y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252518"	"04214"	"00334429"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252529"	"04214"	"00334440"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253509"	"04214"	"00335564"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253510"	"04214"	"00335565"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253511"	"04214"	"00335566"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253649"	"04214"	"00335731"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253656"	"04214"	"00335738"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253657"	"04214"	"00335739"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253658"	"04214"	"00335740"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253659"	"04214"	"00335741"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253660"	"04214"	"00335742"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253661"	"04214"	"00335743"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254401"	"04214"	"00359104"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254420"	"04214"	"00359123"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254470"	"04214"	"00359173"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254473"	"04214"	"00359176"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254492"	"04214"	"00359195"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000257487"	"04214"	"00362073"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000258776"	"04214"	"00363415"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258777"	"04214"	"00363416"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258778"	"04214"	"00363417"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258779"	"04214"	"00363418"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258991"	"04214"	"00363641"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259030"	"04214"	"00363680"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000267902"	"04214"	"00372623"	"00000"	"Familial, autosomal dominant"	"28y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267911"	"04214"	"00372632"	"00000"	"Isolated (sporadic)"	"31y"	"see paper; ..."	"26y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267912"	"04214"	"00372633"	"00000"	"Familial, autosomal dominant"	"5y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267913"	"04214"	"00372634"	"00000"	"Isolated (sporadic)"	"46y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267914"	"04214"	"00372635"	"00000"	"Isolated (sporadic)"	"6y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267951"	"04214"	"00372672"	"00000"	"Familial, autosomal recessive"	"23y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267990"	"04214"	"00372711"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268028"	"04214"	"00372749"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268759"	"04214"	"00373483"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268760"	"04214"	"00373484"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269070"	"04214"	"00373861"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269134"	"04214"	"00373925"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270107"	"04214"	"00374897"	"00000"	"Isolated (sporadic)"	"40y"	"best corrected visual acuity 0.25/0.5"	"20y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270141"	"04214"	"00374931"	"00000"	"Isolated (sporadic)"	"43y"	"best corrected visual acuity 0.3/0.4"	"20y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270503"	"04214"	"00375289"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270504"	"04214"	"00375290"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270558"	"04214"	"00375344"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270645"	"04214"	"00375431"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270663"	"04214"	"00375449"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270664"	"04214"	"00375450"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271988"	"04214"	"00376777"	"00000"	"Familial, autosomal dominant"	"19y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271995"	"04214"	"00376784"	"00000"	"Familial, X-linked"	"5y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271996"	"04214"	"00376785"	"00000"	"Familial, X-linked"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272002"	"04214"	"00376791"	"00000"	"Unknown"	"38y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272005"	"04214"	"00376794"	"00000"	"Unknown"	"55y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272027"	"04214"	"00376817"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272035"	"04214"	"00376825"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272630"	"04214"	"00377480"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP33"	"retinitis pigmentosa"	""
"0000272631"	"04214"	"00377481"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP33"	"retinitis pigmentosa"	""
"0000272632"	"04214"	"00377482"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP33"	"retinitis pigmentosa"	""
"0000272633"	"04214"	"00377483"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP33"	"retinitis pigmentosa"	""
"0000272634"	"04214"	"00377484"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP33"	"retinitis pigmentosa"	""
"0000272635"	"04214"	"00377485"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP33"	"retinitis pigmentosa"	""
"0000273305"	"04214"	"00379432"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273324"	"04214"	"00379451"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273603"	"00112"	"00379749"	"03508"	"Familial, autosomal dominant"	""	"HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273749"	"04214"	"00379895"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274704"	"04214"	"00380851"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274705"	"04214"	"00380852"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274706"	"04214"	"00380853"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000275092"	"04214"	"00381241"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275518"	"04214"	"00381676"	"00000"	"Familial, autosomal recessive"	""	""	"13y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275547"	"04214"	"00381705"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000275661"	"04214"	"00381819"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000275750"	"04214"	"00381908"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275751"	"04214"	"00381909"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275752"	"04214"	"00381910"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276288"	"04214"	"00382439"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276453"	"04214"	"00382604"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt Disease"	""
"0000278084"	"04214"	"00384299"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000278209"	"04214"	"00384424"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000278838"	"04214"	"00385054"	"00000"	"Isolated (sporadic)"	"31y"	"nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.4/0.4"	"3y"	""	""	""	""	""	""	""	"early onset severe retinal dystrophy"	"early onset severe retinal dystrophy"	""
"0000279416"	"04214"	"00385621"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000280060"	"04214"	"00386257"	"00000"	"Familial, autosomal recessive"	"39y"	""	""	"20y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280104"	"04214"	"00386301"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280410"	"04214"	"00386610"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280447"	"04214"	"00386647"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280456"	"04214"	"00386656"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280470"	"04214"	"00386670"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280594"	"04214"	"00386794"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280716"	"04214"	"00386916"	"00000"	"Familial, autosomal recessive"	"48y"	"Night blindness for over 40y; hearing impairment gradually; bilateral retinal arteriolar attenuation, widespread RPE atrophy, pigment deposition, grey flecks around macular area, pale optic disc"	"7y"	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000280719"	"04214"	"00386919"	"00000"	"Familial, autosomal dominant"	""	"fundus autofluorescence shows scattered hyperfluorescent RPE in the posterior pole"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000280807"	"04214"	"00387029"	"00000"	"Familial, autosomal dominant"	"72y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280808"	"04214"	"00387030"	"00000"	"Familial, autosomal dominant"	"50y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000280809"	"04214"	"00387031"	"00000"	"Familial, autosomal dominant"	"71y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000282434"	"04214"	"00388893"	"00000"	"Isolated (sporadic)"	"20y"	"age at genetic diagnosis mentioned"	""	"17y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000282472"	"04214"	"00388931"	"00000"	"Familial, autosomal dominant"	"82y"	"age at genetic diagnosis mentioned"	""	"79y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282473"	"04214"	"00388932"	"00000"	"Familial, autosomal dominant"	"53y"	"age at genetic diagnosis mentioned"	""	"50y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282474"	"04214"	"00388933"	"00000"	"Familial, autosomal dominant"	"20y"	"age at genetic diagnosis mentioned"	""	"17y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282683"	"04214"	"00389142"	"00000"	"Familial, autosomal dominant"	"72y"	"age at genetic diagnosis mentioned"	""	"70y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282684"	"04214"	"00389143"	"00000"	"Familial, autosomal dominant"	"49y"	"age at genetic diagnosis mentioned"	""	"47y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000282685"	"04214"	"00389144"	"00000"	"Familial, autosomal dominant"	"73y"	"age at genetic diagnosis mentioned"	""	"71y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283005"	"04214"	"00389464"	"00000"	"Familial, autosomal dominant"	"44y"	"age at genetic diagnosis mentioned"	""	"37y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283006"	"04214"	"00389465"	"00000"	"Familial, autosomal dominant"	"57y"	"age at genetic diagnosis mentioned"	""	"50y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283007"	"04214"	"00389466"	"00000"	"Familial, autosomal dominant"	"79y"	"age at genetic diagnosis mentioned"	""	"72y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283008"	"04214"	"00389467"	"00000"	"Familial, autosomal dominant"	"71y"	"age at genetic diagnosis mentioned"	""	"64y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283032"	"04214"	"00389491"	"00000"	"Familial, autosomal dominant"	"44y"	"age at genetic diagnosis mentioned"	""	"36y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283033"	"04214"	"00389492"	"00000"	"Familial, autosomal dominant"	"70y"	"age at genetic diagnosis mentioned"	""	"62y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283034"	"04214"	"00389493"	"00000"	"Familial, autosomal dominant"	"94y"	"age at genetic diagnosis mentioned"	""	"86y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283061"	"04214"	"00389520"	"00000"	"Familial, autosomal dominant"	"64y"	"age at genetic diagnosis mentioned"	""	"57y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283111"	"04214"	"00389570"	"00000"	"Familial, autosomal dominant"	"78y"	"age at genetic diagnosis mentioned"	""	"73y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283121"	"04214"	"00389580"	"00000"	"Familial, autosomal dominant"	"56y"	"age at genetic diagnosis mentioned"	""	"51y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283216"	"04214"	"00389675"	"00000"	"Familial, autosomal dominant"	"49y"	"age at genetic diagnosis mentioned"	""	"47y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283316"	"04214"	"00389775"	"00000"	"Isolated (sporadic)"	"56y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283339"	"04214"	"00389798"	"00000"	"Isolated (sporadic)"	"26y"	"age at genetic diagnosis mentioned"	""	"19y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283483"	"04214"	"00389942"	"00000"	"Isolated (sporadic)"	"66y"	"age at genetic diagnosis mentioned"	""	"63y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283528"	"04214"	"00389987"	"00000"	"Isolated (sporadic)"	"72y"	"age at genetic diagnosis mentioned"	""	"71y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283536"	"04214"	"00389995"	"00000"	"Isolated (sporadic)"	"57y"	"age at genetic diagnosis mentioned"	""	"57y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283941"	"04214"	"00390403"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284412"	"04214"	"00390924"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000285397"	"04214"	"00392119"	"00000"	"Unknown"	"58y"	"best corrected visual acuity right/left eye: counting fingers/0.05, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, pseudo hole OI"	""	"18y"	""	""	""	""	""	""	"RP-198"	"rod-cone dystrophy"	""
"0000285398"	"04214"	"00392120"	"00000"	"Unknown"	"56y"	"best corrected visual acuity right/left eye: counting fingers/0.05, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, cystoid macular edema right eye"	""	"15y"	""	""	""	""	""	""	"RP-199"	"rod-cone dystrophy"	""
"0000285399"	"04214"	"00392121"	"00000"	"Unknown"	"53y"	"best corrected visual acuity right/left eye: 0.25/0.25, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread thinning"	""	"16y"	""	""	""	""	""	""	"RP-200"	"rod-cone dystrophy"	""
"0000285400"	"04214"	"00392122"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"RP-201"	"rod-cone dystrophy"	""
"0000285401"	"04214"	"00392123"	"00000"	"Unknown"	"22y"	"best corrected visual acuity right/left eye: 0.5/0.2, visual field: constricted to 20deg-30deg both eyes (70/72), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, cystoid macular edema"	""	"15y"	""	""	""	""	""	""	"RPN-316"	"rod-cone dystrophy"	""
"0000285402"	"04214"	"00392124"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"RPN-196"	"rod-cone dystrophy"	""
"0000285403"	"04214"	"00392125"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"RPN-572"	"rod-cone dystrophy"	""
"0000285406"	"04214"	"00392128"	"00000"	"Unknown"	"52y"	"best corrected visual acuity right/left eye: 0.3/0.05, visual field: constricted <10deg both eyes (10/11), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits, RPE atrophy, choroidosis, optical coherence tomography: widespread thinnin"	""	"6y"	""	""	""	""	""	""	"RPN-573"	"rod-cone dystrophy"	""
"0000285408"	"04214"	"00392130"	"00000"	"Unknown"	"26y"	"best corrected visual acuity right/left eye: 1.0/1.0, visual field: (98/97), fundus: normal, optical coherence tomography: normal"	""	""	""	""	""	""	""	""	"RPN-575"	"asymptomatic carrier"	""
"0000285413"	"04214"	"00392135"	"00000"	"Unknown"	"20y"	"best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin"	""	"10y"	""	""	""	""	""	""	"RPN-301"	"rod-cone dystrophy"	""
"0000285422"	"04214"	"00392144"	"00000"	"Unknown"	"58y"	"best corrected visual acuity right/left eye: counting fingers/0.05, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, pseudo hole OI"	""	"18y"	""	""	""	""	""	""	"RP-198"	"rod-cone dystrophy"	""
"0000285423"	"04214"	"00392145"	"00000"	"Unknown"	"56y"	"best corrected visual acuity right/left eye: counting fingers/0.05, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, cystoid macular edema right eye"	""	"15y"	""	""	""	""	""	""	"RP-199"	"rod-cone dystrophy"	""
"0000285424"	"04214"	"00392146"	"00000"	"Unknown"	"53y"	"best corrected visual acuity right/left eye: 0.25/0.25, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread thinning"	""	"16y"	""	""	""	""	""	""	"RP-200"	"rod-cone dystrophy"	""
"0000285425"	"04214"	"00392147"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"RP-201"	"rod-cone dystrophy"	""
"0000285426"	"04214"	"00392148"	"00000"	"Unknown"	"22y"	"best corrected visual acuity right/left eye: 0.5/0.2, visual field: constricted to 20deg-30deg both eyes (70/72), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, cystoid macular edema"	""	"15y"	""	""	""	""	""	""	"RPN-316"	"rod-cone dystrophy"	""
"0000285427"	"04214"	"00392149"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"RPN-196"	"rod-cone dystrophy"	""
"0000285428"	"04214"	"00392150"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"RPN-572"	"rod-cone dystrophy"	""
"0000285431"	"04214"	"00392153"	"00000"	"Unknown"	"52y"	"best corrected visual acuity right/left eye: 0.3/0.05, visual field: constricted <10deg both eyes (10/11), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits, RPE atrophy, choroidosis, optical coherence tomography: widespread thinnin"	""	"6y"	""	""	""	""	""	""	"RPN-573"	"rod-cone dystrophy"	""
"0000285433"	"04214"	"00392155"	"00000"	"Unknown"	"26y"	"best corrected visual acuity right/left eye: 1.0/1.0, visual field: (98/97), fundus: normal, optical coherence tomography: normal"	""	""	""	""	""	""	""	""	"RPN-575"	"asymptomatic carrier"	""
"0000285438"	"04214"	"00392160"	"00000"	"Unknown"	"20y"	"best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin"	""	"10y"	""	""	""	""	""	""	"RPN-301"	"rod-cone dystrophy"	""
"0000285603"	"04214"	"00392327"	"00000"	"Familial, autosomal dominant"	"51y"	"best corrected visual acuity right/left eye: counting fingers/hand movement, electroretinograhy responses: extinguished"	"1y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285613"	"04214"	"00392337"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right/left eye: 0.1/0.1, electroretinograhy responses: not available"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285639"	"04214"	"00392363"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right/left eye: 0.2/0.3, electroretinograhy responses: not available"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285646"	"04214"	"00392370"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye: 0.7/0.6, electroretinograhy responses: not available"	"8y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285657"	"04214"	"00392381"	"00000"	"Familial, autosomal dominant"	"13y"	"best corrected visual acuity right/left eye: 0.3/0.25, electroretinograhy responses: extinguished"	"5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285666"	"04214"	"00392390"	"00000"	"Familial, autosomal dominant"	"27y"	"best corrected visual acuity right/left eye: 0.5/0.6, electroretinograhy responses: extinguished"	"3y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285668"	"04214"	"00392392"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right/left eye: 0.1/0.3, electroretinograhy responses: extinguished"	"2y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285670"	"04214"	"00392394"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right/left eye: 0.1/0.3, electroretinograhy responses: extinguished"	"12y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	"Retinitis pigmentosa, autosomal dominant"	""
"0000285842"	"04214"	"00392595"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"retinitis pigmentosa"	""
"0000285914"	"04214"	"00392667"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"retinitis pigmentosa"	""
"0000286750"	"04214"	"00393544"	"00000"	"Familial, autosomal dominant"	"58y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286772"	"04214"	"00393566"	"00000"	"Isolated (sporadic)"	"57y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286905"	"04214"	"00393699"	"00000"	"Familial, autosomal dominant"	"25y"	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000287003"	"04214"	"00393797"	"00000"	"Familial, autosomal dominant"	"5y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000287741"	"04214"	"00394538"	"00000"	"Familial, autosomal dominant"	"35y"	""	"27y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287742"	"04214"	"00394539"	"00000"	"Familial, autosomal dominant"	"68y"	""	"18y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287743"	"04214"	"00394540"	"00000"	"Familial, autosomal dominant"	"60y"	""	""	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287744"	"04214"	"00394541"	"00000"	"Familial, autosomal dominant"	"34y"	""	"24y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289090"	"04214"	"00395928"	"00000"	"Unknown"	"76y7m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289106"	"04214"	"00395944"	"00000"	"Unknown"	"46y10m"	""	"40y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289719"	"04214"	"00396558"	"00000"	"Familial, autosomal recessive"	"10y"	"night blindness"	"<12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000289790"	"04214"	"00396629"	"00000"	"Isolated (sporadic)"	"70y"	"decreased visual acuity"	"12y-18y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000289807"	"04214"	"00396646"	"00000"	"Isolated (sporadic)"	"18y"	"right eye endothelial corneal dystrophy and retinal detachment"	"10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000308191"	"04214"	"00416471"	"00000"	"Familial, autosomal dominant"	"73y"	"best corrected visual acuity right, left eye: hand motion, hand motion; fundus: not available; mean visual field defect (dB): not available; total multifocal electroretinogram amplitude (nV/deg): not available"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308192"	"04214"	"00416472"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right, left eye: 0.3, 0.1; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy / bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy; mean visual field defect (dB): -31.12 / -32.45; total multifocal electroretinogram amplitude (nV/deg): 0.20 /  0.29"	"10y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308193"	"04214"	"00416473"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right, left eye: 0.9, 0.8; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel / bone spicule-like pigment deposit, narrowing of the retinal vessel; mean visual field defect (dB): -13.73 / -15.43; total multifocal electroretinogram amplitude (nV/deg): 0.95 /  0.74"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308194"	"04214"	"00416474"	"00000"	"Familial, autosomal dominant"	"39y"	"best corrected visual acuity right, left eye: 0.5, 0.3; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy / bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy; mean visual field defect (dB): -28.94 / -27.73; total multifocal electroretinogram amplitude (nV/deg): 0.51 /  0.35"	"10y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308195"	"04214"	"00416475"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right, left eye: 0.3, 0.5; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel/ bone spicule-like pigment deposit, narrowing of the retinal vessel; mean visual field defect (dB): -12.52 / -10.12; total multifocal electroretinogram amplitude (nV/deg): 1.16 /  0.91"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308196"	"04214"	"00416476"	"00000"	"Familial, autosomal dominant"	"70y"	"best corrected visual acuity right, left eye: hand motion, hand motion; fundus: no sight / no sight; mean visual field defect (dB): not available; total multifocal electroretinogram amplitude (nV/deg): not available"	"8y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308197"	"04214"	"00416477"	"00000"	"Familial, autosomal dominant"	"53y"	"best corrected visual acuity right, left eye: 0.1, 0.5; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy / bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy; mean visual field defect (dB): -30.23 / -30.29; total multifocal electroretinogram amplitude (nV/deg): 0.13 /  0.51"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308198"	"04214"	"00416478"	"00000"	"Familial, autosomal dominant"	"51y"	"best corrected visual acuity right, left eye: hand motion, hand motion; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy / bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy; mean visual field defect (dB): -31.54 / -32.43; total multifocal electroretinogram amplitude (nV/deg): not available"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308199"	"04214"	"00416479"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right, left eye: 0.1, 0.2; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel / bone spicule-like pigment deposit, narrowing of the retinal vessel; mean visual field defect (dB): -13.81 / -12.84; total multifocal electroretinogram amplitude (nV/deg): 0.30 /  0.39"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308200"	"04214"	"00416480"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity right, left eye: 0.1, 0.02; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy / bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy; mean visual field defect (dB): -33.00 / -33.00; total multifocal electroretinogram amplitude (nV/deg): not available"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308201"	"04214"	"00416481"	"00000"	"Familial, autosomal dominant"	"45y"	"best corrected visual acuity right, left eye: 0.06, 0.2; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy / bone spicule-like pigment deposit, narrowing of the retinal vessel, optic atrophy; mean visual field defect (dB): -26.87 / -24.93; total multifocal electroretinogram amplitude (nV/deg): 0.51 /  0.13"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308202"	"04214"	"00416482"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right, left eye: 0.8, 0.9; fundus: bone spicule-like pigment deposit, narrowing of the retinal vessel / bone spicule-like pigment deposit, narrowing of the retinal vessel; mean visual field defect (dB): -13.05 / -13.79; total multifocal electroretinogram amplitude (nV/deg): 0.78 /  0.79"	"7y6m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308203"	"04214"	"00416483"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308204"	"04214"	"00416484"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308205"	"04214"	"00416485"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308206"	"04214"	"00416486"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308207"	"04214"	"00416487"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308208"	"04214"	"00416488"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308209"	"04214"	"00416489"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308210"	"04214"	"00416490"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308211"	"04214"	"00416491"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308212"	"04214"	"00416492"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308213"	"04214"	"00416493"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308214"	"04214"	"00416494"	"00000"	"Familial, autosomal dominant"	""	"unaffected at first, at  a recent follow-up developed decreased nighttime visual acuity at 17y, bone spicule-like pigmentary deposits were observed in the local peripheral retina of both eyes during funduscopy"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308220"	"04214"	"00416500"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308221"	"04214"	"00416501"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308222"	"04214"	"00416502"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308223"	"04214"	"00416503"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308224"	"04214"	"00416504"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308225"	"04214"	"00416505"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308226"	"04214"	"00416506"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308227"	"04214"	"00416507"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308228"	"04214"	"00416508"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308229"	"04214"	"00416509"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308230"	"04214"	"00416510"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308231"	"04214"	"00416511"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308232"	"04214"	"00416512"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308233"	"04214"	"00416513"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308234"	"04214"	"00416514"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308235"	"04214"	"00416515"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308236"	"04214"	"00416516"	"00000"	"Familial, autosomal dominant"	"83y"	"clinical features right/left eye: best corrected visual acuity: no light perception/no light perception; intraocular pressure (mmHg): 58/60; posterior subcapsular cataract: yes/yes; optic disc: not available/not available; artery attenuation: not available/not available; pigment deposits: not available/not available; visual field: not available/not available; electroretinography: not available/not available"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308237"	"04214"	"00416517"	"00000"	"Familial, autosomal dominant"	"49y"	"clinical features right/left eye: best corrected visual acuity: 0.1/0.2; intraocular pressure (mmHg): 13/15; posterior subcapsular cataract: yes/yes; optic disc: pale/pale; artery attenuation: yes/yes; pigment deposits: intensive/intensive; visual field: 30 deg/30 deg; electroretinography: not recordable/not recordable"	"12y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308238"	"04214"	"00416518"	"00000"	"Familial, autosomal dominant"	"49y"	"clinical features right/left eye: best corrected visual acuity: 0.2/no light perception; intraocular pressure (mmHg): 34/35; posterior subcapsular cataract: yes/yes; optic disc: pale/pale; artery attenuation: yes/yes; pigment deposits: intensive/intensive; visual field: 10 deg/not available; electroretinography: not recordable/not recordable"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308239"	"04214"	"00416519"	"00000"	"Familial, autosomal dominant"	"27y"	"clinical features right/left eye: best corrected visual acuity: 1.0/1.0; intraocular pressure (mmHg): 14/15; posterior subcapsular cataract: no/no; optic disc: cerinus/cerinus; artery attenuation: yes/yes; pigment deposits: diffuse/diffuse; visual field: 60 deg/60 deg; electroretinography: both remarkably reduced response/both remarkably reduced response"	"14y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308240"	"04214"	"00416520"	"00000"	"Familial, autosomal dominant"	"19y"	"clinical features right/left eye: best corrected visual acuity: 1.0/1.0; intraocular pressure (mmHg): 14/15; posterior subcapsular cataract: no/no; optic disc: cerinus/cerinus; artery attenuation: no/no; pigment deposits: diffuse/diffuse; visual field: 30 deg/30 deg; electroretinography: both remarkably reduced response"	"12y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308241"	"04214"	"00416521"	"00000"	"Isolated (sporadic)"	"71y"	"typical RP fundus changes; best corrected visual acuity right, left eye: 20/200, hand movement;  severe visual field damage in both eyes"	""	"64y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308242"	"04214"	"00416522"	"00000"	"Isolated (sporadic)"	"53y"	"typical manifestations of RP"	"53y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308243"	"04214"	"00416523"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308244"	"04214"	"00416524"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308246"	"04214"	"00416526"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right, left eye: 20/32, 20/40; visual field (degrees across horizontal meridian): 18 deg / 18 deg - static Humphrey; electroretinogram: dark-adapted combined / mixed response wave values: 8.5; light-adapted response - flicker response wave values: 2.3"	"5y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308247"	"04214"	"00416527"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right, left eye: 20/40, 20/32; visual field (degrees across horizontal meridian): 9 deg / 12 deg - static Humphrey; electroretinogram: dark-adapted combined / mixed response wave values: non-detectable (at age 28); light-adapted response - flicker response wave values: 0.6 (at age 28)"	"21y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308248"	"04214"	"00416528"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right, left eye: 20/40, 20/32; visual field (degrees across horizontal meridian): not done; electroretinogram: dark-adapted combined / mixed response wave values: 14.6; light-adapted response - flicker response wave values: 8.6"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308249"	"04214"	"00416529"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right, left eye: 20/40, 20/50; visual field (degrees across horizontal meridian): 6 deg / <5 deg - kinetic Goldmann; electroretinogram: dark-adapted combined / mixed response wave values: non-detectable; light-adapted response - flicker response wave values: non-detectable"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308250"	"04214"	"00416530"	"00000"	"Familial, autosomal dominant"	"76y"	"best corrected visual acuity right, left eye: 10/200, hand movement at 2 feet; visual field (degrees across horizontal meridian): 5 deg / 7 deg - kinetic Goldmann; electroretinogram: dark-adapted combined / mixed response wave values: non-detectable; light-adapted response - flicker response wave values: non-detectable"	"13y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308251"	"04214"	"00416531"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right, left eye: 3/200, 20/400; visual field (degrees across horizontal meridian): <5 deg / 8 deg - kinetic Goldmann; electroretinogram: dark-adapted combined / mixed response wave values: non-detectable (at age 40); light-adapted response - flicker response wave values: non-detectable (at age 40)"	"8y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308252"	"04214"	"00416532"	"00000"	"Familial, autosomal dominant"	"24y"	"best corrected visual acuity right, left eye: 20/60, 20/50; visual field (degrees across horizontal meridian): 35 deg / with temporal island 35 deg - kinetic Goldmann with temporal island; electroretinogram: dark-adapted combined / mixed response wave values: non-detectable; light-adapted response - flicker response wave values: 2.1"	"24y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308253"	"04214"	"00416533"	"00000"	"Familial, autosomal dominant"	"66y"	"best corrected visual acuity right, left eye: 20/20, 20/20; visual field (degrees across horizontal meridian): 145 deg / 145 deg - kinetic Goldmann; electroretinogram: dark-adapted combined / mixed response wave values: Within normal limits; light-adapted response - flicker response wave values: Within normal limits"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308254"	"04214"	"00416534"	"00000"	"Familial, autosomal dominant"	"34y"	"best corrected visual acuity right, left eye: 20/63, 20/50; visual field (degrees across horizontal meridian): 110 deg /+ 105 deg - kinetic Goldmann+; electroretinogram: dark-adapted combined / mixed response wave values: severely reducedt; light-adapted response - flicker response wave values: 11"	"4y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308255"	"04214"	"00416535"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right, left eye: 20/100, 20/160; visual field (degrees across horizontal meridian): 20 deg / 20 deg - static Humphrey; electroretinogram: dark-adapted combined / mixed response wave values: not done; light-adapted response - flicker response wave values: not done"	"12y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308256"	"04214"	"00416536"	"00000"	"Familial, autosomal dominant"	"54y"	"best corrected visual acuity right, left eye: 20/640, 20/160; visual field (degrees across horizontal meridian): 5 deg / 10 deg - static Humphrey; electroretinogram: dark-adapted combined / mixed response wave values: not done; light-adapted response - flicker response wave values: not done"	"20y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308257"	"04214"	"00416537"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right, left eye: 20/25, 20/20; visual field (degrees across horizontal meridian): not done; electroretinogram: dark-adapted combined / mixed response wave values: not done; light-adapted response - flicker response wave values: not done"	"35y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308258"	"04214"	"00416538"	"00000"	"Familial, autosomal dominant"	"30y"	"best corrected visual acuity right, left eye: 20/25, 20/25; visual field (degrees across horizontal meridian): 100 deg / 75 deg - kinetic Goldmann; electroretinogram: dark-adapted combined / mixed response wave values: not done; light-adapted response - flicker response wave values: not done"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308259"	"04214"	"00416539"	"00000"	"Familial, autosomal dominant"	""	"whole family description: early onset of the disease: nyctalopia 6-8y, rapid disease progression and severely impaired visual function - loss of visual fields 14-17y, decreased central vision 21- 28y; fundus presentations and electroretinogram results: typical RP signs"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308260"	"04214"	"00416540"	"00000"	"Familial, autosomal dominant"	""	"whole family description: early onset of the disease: nyctalopia 6-8y, rapid disease progression and severely impaired visual function - loss of visual fields 14-17y, decreased central vision 21- 28y; fundus presentations and electroretinogram results: typical RP signs"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308261"	"04214"	"00416541"	"00000"	"Familial, autosomal dominant"	""	"whole family description: early onset of the disease: nyctalopia 6-8y, rapid disease progression and severely impaired visual function - loss of visual fields 14-17y, decreased central vision 21- 28y; fundus presentations and electroretinogram results: typical RP signs"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308262"	"04214"	"00416542"	"00000"	"Familial, autosomal dominant"	""	"whole family description: early onset of the disease: nyctalopia 6-8y, rapid disease progression and severely impaired visual function - loss of visual fields 14-17y, decreased central vision 21- 28y; fundus presentations and electroretinogram results: typical RP signs"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308263"	"04214"	"00416543"	"00000"	"Familial, autosomal dominant"	""	"whole family description: early onset of the disease: nyctalopia 6-8y, rapid disease progression and severely impaired visual function - loss of visual fields 14-17y, decreased central vision 21- 28y; fundus presentations and electroretinogram results: typical RP signs"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308264"	"04214"	"00416544"	"00000"	"Familial, autosomal dominant"	"67y"	"nyctalopia; no photophobia; best corrected visual acuity right, left eye: 20/20, 20/20; refraction, mean spherical equivalent right, left eye: +1.0, +0.5; kinetic visual fields (horizontal for listed isopters): 20 deg (V4e), inferior and temporal \"island\"; full field electroretinography: scotopic nonrecordable, photopic severely reduced responses; multifocal electroretinography: central response: normal, otherwise reduced but not delayed; maculopathy: mild atrophy; fundus periphery: midperipheral bone spiculae and retinal atrophy, retinal vessel attenuation, optic disc with mild pallor; fundus autofluorescence: macula with hyperautofluorescence with central hypoautofluorescence , midperipheral speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: present, central retinal thickness, um, right, left eye: 273, 261; total macular volume (mm3): 2.93, 2.94"	"55y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308265"	"04214"	"00416545"	"00000"	"Familial, autosomal dominant"	"66y"	"nyctalopia; photophobia; best corrected visual acuity right, left eye: 20/50, 20/200; refraction, mean spherical equivalent right, left eye: -10, -10; kinetic visual fields (horizontal for listed isopters): 5 deg (V4e); full field electroretinography: not performed; multifocal electroretinography: not performed; maculopathy: severe atrophy; fundus periphery: bone spiculae and generalized retinal atrophy, retinal vessel attenuation, atrophic optic disc; fundus autofluorescence: central macula with large ring-shaped hyperautofluorescence with centrally slightly reduced hyperautofluorescence , midperipheral speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: present, central retinal thickness, um, right, left eye: 241, 155; total macular volume (mm3): 2.18, 2.15"	"20y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308266"	"04214"	"00416546"	"00000"	"Familial, autosomal dominant"	"77y"	"nyctalopia; no photophobia; best corrected visual acuity right, left eye: no light perception, 20/100; refraction, mean spherical equivalent right, left eye: -3.5, -1.75; kinetic visual fields (horizontal for listed isopters): 5 deg (V4e); full field electroretinography: not performed; multifocal electroretinography: not performed; maculopathy: severe atrophy; fundus periphery: midperipheral bone spiculae, severe retinal atrophy, retinal vessel attenuation, atrophic optic disc; fundus autofluorescence: central macula with ring-shaped hyperautofluorescence with centrally slightly reduced hyperautofluorescence , midperipheral speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: present, central retinal thickness, um, right, left eye: not available, 206; total macular volume (mm3): not available , 2.5"	"07y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308267"	"04214"	"00416547"	"00000"	"Familial, autosomal dominant"	"36y"	"nyctalopia; no photophobia; best corrected visual acuity right, left eye: 20/25, 20/40; refraction, mean spherical equivalent right, left eye: -10, -9; kinetic visual fields (horizontal for listed isopters): 10 deg to 20 deg, temporal large; full field electroretinography: scotopic nonrecordable, photopic severely reduced responses; multifocal electroretinography: central response: right eye normal, left eye delayed, otherwise reduced or within noise; maculopathy: mild atrophy; fundus periphery: midperipheral bone spiculae and retinal atrophy, retinal vessel attenuation, tilted optic disc with mild pallor; fundus autofluorescence: central macula with large ring-shaped area of hyperautofluorescence with central hypoautofluorescence , midperipheral speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: present, central retinal thickness, um, right, left eye: 253, 298; total macular volume (mm3): 3.15, 3.18 (normal)"	"<08y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308268"	"04214"	"00416548"	"00000"	"Familial, autosomal dominant"	"37y"	"nyctalopia; photophobia; best corrected visual acuity right, left eye: 20/50, 20/30; refraction, mean spherical equivalent right, left eye: -2.25, -2.75; kinetic visual fields (horizontal for listed isopters): 10 deg to 20 deg, temporal large areas (V4e); full field electroretinography: scotopic and photopic nonrecordable; multifocal electroretinography: central response: right eye reduced, left eye normal, otherwise nonrecordable; maculopathy: mild atrophy; fundus periphery: midperipheral bone spiculae and retinal atrophy, retinal vessel attenuation, mild optic disc pallor; fundus autofluorescence: central macula area with moderate hyperautofluorescence filled with ring of hyperautofluorescence , midperipheral mild speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: present, central retinal thickness, um, right, left eye: 192, 215; total macular volume (mm3): 2.31, 2.31"	"10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308269"	"04214"	"00416549"	"00000"	"Familial, autosomal dominant"	"10y"	"nyctalopia; no photophobia; best corrected visual acuity right, left eye: 20/40, 20/40; refraction, mean spherical equivalent right, left eye: +0.75, +0.75; kinetic visual fields (horizontal for listed isopters): normal (V4e), concentric constriction (kinetic I4e) and paracentral scotomas (static I4e); full field electroretinography: scotopic nonrecordable, photopic severely reduced and delayed responses; multifocal electroretinography: central 5 deg responses normal, 10 deg to 25 deg delayed and reduced; maculopathy: mild atrophy; fundus periphery: midperipheral to peripheral bone spiculae and dotted hypopigmentation, retinal vessel attenuation; fundus autofluorescence: paracentral ring of hyperautofluorescence , midperipheral speckled hypoautofluorescence; spectral domain optical coherence tomography: central macular edema: absent, central retinal thickness, um, right, left eye: 210, 210; total macular volume (mm3): 2.58, 2.52"	"09y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308271"	"04214"	"00416551"	"00000"	"Familial, autosomal dominant"	">50y"	"best corrected visual acuity right, left eye: 20/80, 20/100, refraction: +1.25/-1.25 x 10 deg, +2.0/-1.5 x 170 deg, further ophthalmic findings: left macular edema and posterior subcapsular cataract, systemic features: none, electroretinogram: scotopic: not performed, photopic: not performed"	">15y"	""	"nyctalopia and visual field loss"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308272"	"04214"	"00416552"	"00000"	"Familial, autosomal dominant"	">45y"	"best corrected visual acuity right, left eye: 20/30, 20/40, refraction: +2.75 /-0.5 x 110 deg, +2.75/-0.75 x 154 deg, further ophthalmic findings: left mild amblyopia and posterior subcapsular cataract, systemic features: hypertension and gout, electroretinogram: scotopic: not performed, photopic: not performed"	">30y"	""	"nyctalopia and visual field loss"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308273"	"04214"	"00416553"	"00000"	"Isolated (sporadic)"	">12y"	"best corrected visual acuity right, left eye: 20/25, 20/25, refraction: -2.5/+0.25 x 90 deg, -2.5/+0.75 x 80 deg, further ophthalmic findings: none, systemic features: cleft palate and grommets, electroretinogram: scotopic: extinguished, photopic: reduced"	"<12y"	""	"nyctalopia and visual field loss, floaters"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308274"	"04214"	"00416554"	"00000"	"Familial, autosomal dominant"	">20y"	"best corrected visual acuity right, left eye: 20/16, refraction: -2.0/-0.5 x 90 deg, further ophthalmic findings: none, systemic features: none, electroretinogram: scotopic: not performed, photopic: not performed"	">15y"	""	"nyctalopia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308275"	"04214"	"00416555"	"00000"	"Isolated (sporadic)"	">50y"	"best corrected visual acuity right, left eye: 20/20, 20/16, refraction: +0.50 ds, +0.25/ -0.5 x 90 deg, further ophthalmic findings: pseudophakia, systemic features: none, electroretinogram: scotopic: not performed, photopic: not performed"	">50y"	""	"nyctalopia and visual field loss"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308276"	"04214"	"00416556"	"00000"	"Familial, autosomal dominant"	">40y"	"best corrected visual acuity right, left eye: 20/25, 20/25, refraction: -2.5/-1.0 x 157 deg, -2.0/-1.0 x 7 deg, further ophthalmic findings: posterior subcapsular cataract, keratoconjunctivitis sicc, systemic features: asthma, electroretinogram: scotopic: extinguished, photopic: extinguished"	"<18y"	""	"nyctalopia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308277"	"04214"	"00416557"	"00000"	"Familial, autosomal dominant"	">45y"	"best corrected visual acuity right, left eye: 20/25, 20/63, refraction: plano/-0.75 x 113 deg, plano/-1.0 x 71 deg, further ophthalmic findings: glaucoma and pseudophakia, systemic features: hypertonia, electroretinogram: scotopic: extinguished, photopic: extinguished"	"<15y"	""	"nyctalopia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308278"	"04214"	"00416558"	"00000"	"Familial, autosomal dominant"	">40y"	"best corrected visual acuity right, left eye: 20/32, 20/50, refraction: +1.0/-2.75 x 94 deg, -1.5/-2.25 x 70 deg, further ophthalmic findings: pseudophakia and capsular phimosis, systemic features: hypertonia, electroretinogram: scotopic: extinguished, photopic: extinguished"	"<18y"	""	"nyctalopia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308279"	"04214"	"00416559"	"00000"	"Familial, autosomal dominant"	"<45y"	"best corrected visual acuity right, left eye: 20/200, 20/40, refraction: -2.5/-0.25 x 5 deg, -1.5/-1.0 x 49 deg, further ophthalmic findings: pseudophakia, systemic features: none, electroretinogram: scotopic: extinguished, photopic: extinguished"	"<15y"	""	"nyctalopia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311669"	"04214"	"00420421"	"00000"	"Familial, autosomal dominant"	"76y7m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311780"	"04214"	"00420532"	"00000"	"Familial, autosomal dominant"	"46y10m"	""	"40y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312075"	"04214"	"00420828"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312076"	"04214"	"00420829"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312077"	"04214"	"00420830"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312078"	"04214"	"00420831"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312079"	"04214"	"00420832"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312080"	"04214"	"00420833"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312081"	"04214"	"00420834"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312082"	"04214"	"00420835"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000315260"	"04214"	"00424052"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity right, left eye: finger counting, hand movement; refraction spherical equivalent right, left eye: -3.0DS/-3.0DC × 180deg, -2.0DS/-1.0DC×15deg; macular degeneration: severe; optic disk pallor: ; artery attenuation: ; pigment deposits; inferior night vision, inferior central visual acuity, significantly reduced visual fields, and typical RP fundus appearance"	"5y"	""	"nyctalopia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000315261"	"04214"	"00424053"	"00000"	"Familial, autosomal dominant"	"27y"	"best corrected visual acuity right, left eye: 0.3, 0.3; refraction spherical equivalent right, left eye: +0.5DS/-2.25DC × 165 deg, +0.75DS/-3.25DC×5deg; macular degeneration: moderate; optic disk pallor: ; artery attenuation: ; pigment deposits; optical coherence tomography: reduced thickness of the outer nuclear layer and RPE at the macular area with partial loss of outer/inner segmen"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000320372"	"00112"	"00429500"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320390"	"00112"	"00429518"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320671"	"00112"	"00429799"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320714"	"00112"	"00429842"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320716"	"00112"	"00429844"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320808"	"00112"	"00429936"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320934"	"00112"	"00430062"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326632"	"02156"	"00436454"	"04552"	"Familial, autosomal dominant"	""	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	""	""	""	""	""	""	""	""	"RP33"	"Retinitis pigmentosa"	""
"0000336124"	"00198"	"00446925"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336687"	"00198"	"00447488"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336701"	"00198"	"00447502"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336910"	"00198"	"00447711"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""


## Screenings ## Do not remove or alter this header ##
## Count = 305
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000014"	"00000014"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000001595"	"00001792"	"1"	"00102"	"00102"	"2013-08-08 19:03:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033163"	"00033095"	"1"	"00229"	"00229"	"2012-02-04 15:20:01"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033173"	"00033105"	"1"	"00229"	"00229"	"2012-02-04 14:49:23"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033184"	"00033116"	"1"	"00229"	"00229"	"2012-02-04 14:49:23"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033186"	"00033118"	"1"	"00229"	"00229"	"2012-02-04 14:49:23"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033187"	"00033119"	"1"	"00229"	"00229"	"2012-02-13 09:17:22"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033191"	"00033123"	"1"	"00229"	"00229"	"2012-02-13 09:17:22"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033193"	"00033125"	"1"	"00229"	"00229"	"2012-02-13 08:16:28"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033213"	"00033145"	"1"	"00229"	"00229"	"2012-02-13 09:10:17"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033746"	"00033678"	"1"	"01244"	"01244"	"2014-11-25 17:22:27"	""	""	"SEQ"	"DNA"	""	""
"0000233403"	"00232304"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233404"	"00232305"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233405"	"00232306"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233406"	"00232307"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233407"	"00232308"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233408"	"00232309"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233409"	"00232310"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233410"	"00232311"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233411"	"00232312"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233412"	"00232313"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233413"	"00232314"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233414"	"00232315"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233415"	"00232316"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233416"	"00232317"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233417"	"00232318"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233418"	"00232319"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233419"	"00232320"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233420"	"00232321"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233421"	"00232322"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233422"	"00232323"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233423"	"00232324"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233424"	"00232325"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000310570"	"00309425"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000326736"	"00325525"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329228"	"00328013"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329634"	"00328420"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329650"	"00328436"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333477"	"00332257"	"1"	"00000"	"00006"	"2021-02-16 10:11:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000334580"	"00333355"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334842"	"00333616"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335085"	"00333859"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335658"	"00334429"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335669"	"00334440"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336792"	"00335564"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000336793"	"00335565"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000336794"	"00335566"	"1"	"00000"	"00006"	"2021-03-07 17:58:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336960"	"00335731"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000336967"	"00335738"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000336968"	"00335739"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000336969"	"00335740"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000336970"	"00335741"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000336971"	"00335742"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000336972"	"00335743"	"1"	"00000"	"00006"	"2021-03-08 18:54:41"	""	""	"SEQ-NG"	"DNA"	""	"31-gene panel"
"0000360342"	"00359104"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360361"	"00359123"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360411"	"00359173"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360414"	"00359176"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360433"	"00359195"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363302"	"00362073"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364643"	"00363415"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000364644"	"00363416"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000364645"	"00363417"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000364646"	"00363418"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000364869"	"00363641"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364908"	"00363680"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373855"	"00372623"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373864"	"00372632"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373865"	"00372633"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373866"	"00372634"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373867"	"00372635"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373904"	"00372672"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373943"	"00372711"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373981"	"00372749"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374718"	"00373483"	"1"	"00000"	"00006"	"2021-05-14 16:56:19"	""	""	"SEQ-NG"	"DNA"	""	"73-gene panel"
"0000374719"	"00373484"	"1"	"00000"	"00006"	"2021-05-14 16:56:19"	""	""	"SEQ-NG"	"DNA"	""	"73-gene panel"
"0000375093"	"00373861"	"1"	"00000"	"00006"	"2021-05-21 13:56:05"	""	""	"SEQ-NG"	"DNA"	""	"86-gene panel"
"0000375157"	"00373925"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376091"	"00374897"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376125"	"00374931"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376486"	"00375289"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376487"	"00375290"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376541"	"00375344"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376628"	"00375431"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376646"	"00375449"	"1"	"00000"	"00006"	"2021-06-04 11:36:57"	""	""	"SEQ-NG"	"DNA"	""	"179-gene panel"
"0000376647"	"00375450"	"1"	"00000"	"00006"	"2021-06-04 11:36:57"	""	""	"SEQ-NG"	"DNA"	""	"179-gene panel"
"0000377983"	"00376777"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377990"	"00376784"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377991"	"00376785"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377997"	"00376791"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378000"	"00376794"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378022"	"00376817"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378030"	"00376825"	"1"	"00000"	"00006"	"2021-06-25 15:49:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378683"	"00377480"	"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"
"0000378684"	"00377481"	"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"
"0000378685"	"00377482"	"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"
"0000378686"	"00377483"	"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"
"0000378687"	"00377484"	"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"
"0000378688"	"00377485"	"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"
"0000380632"	"00379432"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380651"	"00379451"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380950"	"00379749"	"1"	"03508"	"03508"	"2021-08-09 04:07:31"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381097"	"00379895"	"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"
"0000382065"	"00380851"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382066"	"00380852"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382067"	"00380853"	"1"	"00000"	"03840"	"2021-08-23 12:26:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382456"	"00381241"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382892"	"00381676"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382921"	"00381705"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000383035"	"00381819"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000383124"	"00381908"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383125"	"00381909"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383126"	"00381910"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383653"	"00382439"	"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"
"0000383818"	"00382604"	"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"
"0000385524"	"00384299"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385649"	"00384424"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386283"	"00385054"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386850"	"00385621"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"arraySNP"	"DNA"	""	"RD-xip"
"0000387486"	"00386257"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387530"	"00386301"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387838"	"00386610"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387875"	"00386647"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387884"	"00386656"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387898"	"00386670"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388022"	"00386794"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388144"	"00386916"	"1"	"00000"	"03840"	"2021-10-26 17:11:18"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000388147"	"00386919"	"1"	"00000"	"03840"	"2021-10-26 17:11:18"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000388255"	"00387029"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388256"	"00387030"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388257"	"00387031"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390136"	"00388893"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390174"	"00388931"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390175"	"00388932"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390176"	"00388933"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390385"	"00389142"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390386"	"00389143"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390387"	"00389144"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390707"	"00389464"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390708"	"00389465"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390709"	"00389466"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390710"	"00389467"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390734"	"00389491"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000390735"	"00389492"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390736"	"00389493"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390763"	"00389520"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390813"	"00389570"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390823"	"00389580"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390918"	"00389675"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391018"	"00389775"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000391041"	"00389798"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000391185"	"00389942"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391230"	"00389987"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391238"	"00389995"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391644"	"00390403"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392165"	"00390924"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000393361"	"00392119"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393362"	"00392120"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393363"	"00392121"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393364"	"00392122"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393365"	"00392123"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393366"	"00392124"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393367"	"00392125"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393370"	"00392128"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393372"	"00392130"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393377"	"00392135"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393386"	"00392144"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393387"	"00392145"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393388"	"00392146"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393389"	"00392147"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393390"	"00392148"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393391"	"00392149"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393392"	"00392150"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393395"	"00392153"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393397"	"00392155"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393402"	"00392160"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393569"	"00392327"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393579"	"00392337"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393605"	"00392363"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393612"	"00392370"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393623"	"00392381"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393632"	"00392390"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393634"	"00392392"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393636"	"00392394"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel testing"
"0000393842"	"00392595"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000393914"	"00392667"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000394792"	"00393544"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394814"	"00393566"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394947"	"00393699"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395045"	"00393797"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395785"	"00394538"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395786"	"00394539"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395787"	"00394540"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395788"	"00394541"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397167"	"00395928"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397183"	"00395944"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397801"	"00396558"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000397872"	"00396629"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000397889"	"00396646"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417751"	"00416471"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417752"	"00416472"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417753"	"00416473"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417754"	"00416474"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417755"	"00416475"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417756"	"00416476"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417757"	"00416477"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417758"	"00416478"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417759"	"00416479"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417760"	"00416480"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417761"	"00416481"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417762"	"00416482"	"1"	"00000"	"03840"	"2022-08-31 15:44:25"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417763"	"00416483"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417764"	"00416484"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417765"	"00416485"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417766"	"00416486"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417767"	"00416487"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417768"	"00416488"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417769"	"00416489"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417770"	"00416490"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417771"	"00416491"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417772"	"00416492"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417773"	"00416493"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417774"	"00416494"	"1"	"00000"	"03840"	"2022-08-31 20:39:18"	""	""	"SEQ;SEQp"	"DNA"	"blood"	""
"0000417782"	"00416500"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417783"	"00416501"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417784"	"00416502"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417785"	"00416503"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417786"	"00416504"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417787"	"00416505"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417788"	"00416506"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417789"	"00416507"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417790"	"00416508"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417791"	"00416509"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417792"	"00416510"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417793"	"00416511"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417794"	"00416512"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417795"	"00416513"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417796"	"00416514"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417797"	"00416515"	"1"	"00000"	"03840"	"2022-09-02 14:27:44"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417798"	"00416516"	"1"	"00000"	"03840"	"2022-09-02 20:28:19"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417799"	"00416517"	"1"	"00000"	"03840"	"2022-09-02 20:28:19"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417800"	"00416518"	"1"	"00000"	"03840"	"2022-09-02 20:28:19"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417801"	"00416519"	"1"	"00000"	"03840"	"2022-09-02 20:28:19"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417802"	"00416520"	"1"	"00000"	"03840"	"2022-09-02 20:28:19"	""	""	"SEQ-NG-R;SEQ"	"DNA"	"blood"	"next-generation sequencing of pooled samples"
"0000417803"	"00416521"	"1"	"00000"	"03840"	"2022-09-03 10:04:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417804"	"00416522"	"1"	"00000"	"03840"	"2022-09-03 10:04:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417805"	"00416523"	"1"	"00000"	"03840"	"2022-09-03 19:38:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417806"	"00416524"	"1"	"00000"	"03840"	"2022-09-03 19:38:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417808"	"00416526"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417809"	"00416527"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417810"	"00416528"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417811"	"00416529"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417812"	"00416530"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417813"	"00416531"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417814"	"00416532"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417815"	"00416533"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417816"	"00416534"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417817"	"00416535"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417818"	"00416536"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417819"	"00416537"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417820"	"00416538"	"1"	"00000"	"03840"	"2022-09-05 10:26:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417821"	"00416539"	"1"	"00000"	"03840"	"2022-09-05 10:45:36"	""	""	"SEQ"	"DNA"	"blood"	"189 hereditary retinal disease-related genes - 179 identified and 10 potential causative genes involved in pre-mNA splicing"
"0000417822"	"00416540"	"1"	"00000"	"03840"	"2022-09-05 10:45:36"	""	""	"SEQ"	"DNA"	"blood"	"189 hereditary retinal disease-related genes - 179 identified and 10 potential causative genes involved in pre-mNA splicing"
"0000417823"	"00416541"	"1"	"00000"	"03840"	"2022-09-05 10:45:36"	""	""	"SEQ"	"DNA"	"blood"	"189 hereditary retinal disease-related genes - 179 identified and 10 potential causative genes involved in pre-mNA splicing"
"0000417824"	"00416542"	"1"	"00000"	"03840"	"2022-09-05 10:45:36"	""	""	"SEQ"	"DNA"	"blood"	"189 hereditary retinal disease-related genes - 179 identified and 10 potential causative genes involved in pre-mNA splicing"
"0000417825"	"00416543"	"1"	"00000"	"03840"	"2022-09-05 10:45:36"	""	""	"SEQ"	"DNA"	"blood"	"189 hereditary retinal disease-related genes - 179 identified and 10 potential causative genes involved in pre-mNA splicing"
"0000417826"	"00416544"	"1"	"00000"	"03840"	"2022-09-05 12:18:59"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000417827"	"00416545"	"1"	"00000"	"03840"	"2022-09-05 12:18:59"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000417828"	"00416546"	"1"	"00000"	"03840"	"2022-09-05 12:18:59"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000417829"	"00416547"	"1"	"00000"	"03840"	"2022-09-05 12:18:59"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000417830"	"00416548"	"1"	"00000"	"03840"	"2022-09-05 12:18:59"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000417831"	"00416549"	"1"	"00000"	"03840"	"2022-09-05 12:18:59"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000417833"	"00416551"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417834"	"00416552"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417835"	"00416553"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417836"	"00416554"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417837"	"00416555"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417838"	"00416556"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417839"	"00416557"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417840"	"00416558"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000417841"	"00416559"	"1"	"00000"	"03840"	"2022-09-05 13:13:43"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"retrospective, case-series study;  targeted next-generation sequencing of at least 111 RP genes"
"0000421730"	"00420421"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421841"	"00420532"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000422139"	"00420828"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422140"	"00420829"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422141"	"00420830"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422142"	"00420831"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422143"	"00420832"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422144"	"00420833"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422145"	"00420834"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422146"	"00420835"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000425363"	"00424052"	"1"	"00000"	"03840"	"2022-11-16 14:53:21"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole exome sequencing"
"0000425364"	"00424053"	"1"	"00000"	"03840"	"2022-11-16 14:53:21"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole exome sequencing"
"0000430913"	"00429500"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430931"	"00429518"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431212"	"00429799"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431255"	"00429842"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431257"	"00429844"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431349"	"00429936"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431475"	"00430062"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000437938"	"00436454"	"1"	"04552"	"04552"	"2023-09-17 04:18:06"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000448502"	"00446925"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449065"	"00447488"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449079"	"00447502"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449288"	"00447711"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 310
"{{screeningid}}"	"{{geneid}}"
"0000000014"	"ALG6"
"0000000014"	"ATP7B"
"0000000014"	"CFTR"
"0000000014"	"DPYD"
"0000000014"	"ETFB"
"0000000014"	"GLB1"
"0000000014"	"GNPTAB"
"0000000014"	"HEXB"
"0000000014"	"IGHMBP2"
"0000000014"	"MYO5A"
"0000000014"	"NHLRC1"
"0000000014"	"NPHP4"
"0000000014"	"NPHS1"
"0000000014"	"PKHD1"
"0000000014"	"SERPINA1"
"0000000014"	"SFTPB"
"0000000014"	"SGSH"
"0000000014"	"TSFM"
"0000033163"	"PDE6B"
"0000033163"	"PRPH2"
"0000033163"	"RGR"
"0000033163"	"SNRNP200"
"0000033173"	"CACNA1F"
"0000033173"	"PROM1"
"0000033173"	"RP2"
"0000033173"	"RPGRIP1L"
"0000033173"	"SNRNP200"
"0000033184"	"CACNA1F"
"0000033184"	"PRPH2"
"0000033184"	"SNRNP200"
"0000033186"	"CACNA1F"
"0000033186"	"RPGR"
"0000033186"	"SNRNP200"
"0000033187"	"CC2D2A"
"0000033187"	"SNRNP200"
"0000033191"	"GUCY2D"
"0000033191"	"SNRNP200"
"0000033193"	"C2orf71"
"0000033193"	"SEMA4A"
"0000033193"	"SNRNP200"
"0000033213"	"GUCA1B"
"0000033213"	"SNRNP200"
"0000033746"	"SNRNP200"
"0000233403"	"SNRNP200"
"0000233404"	"SNRNP200"
"0000233405"	"SNRNP200"
"0000233406"	"SNRNP200"
"0000233407"	"SNRNP200"
"0000233408"	"SNRNP200"
"0000233409"	"SNRNP200"
"0000233410"	"SNRNP200"
"0000233411"	"SNRNP200"
"0000233412"	"SNRNP200"
"0000233413"	"SNRNP200"
"0000233414"	"SNRNP200"
"0000233415"	"SNRNP200"
"0000233416"	"SNRNP200"
"0000233417"	"SNRNP200"
"0000233418"	"SNRNP200"
"0000233419"	"SNRNP200"
"0000233420"	"SNRNP200"
"0000233421"	"SNRNP200"
"0000233422"	"SNRNP200"
"0000233423"	"SNRNP200"
"0000233424"	"SNRNP200"
"0000310570"	"SNRNP200"
"0000326736"	"SNRNP200"
"0000329228"	"SNRNP200"
"0000329634"	"SNRNP200"
"0000329650"	"SNRNP200"
"0000333477"	"SNRNP200"
"0000334580"	"SNRNP200"
"0000334842"	"SNRNP200"
"0000335085"	"SNRNP200"
"0000335658"	"RDH12"
"0000335658"	"SNRNP200"
"0000335669"	"SNRNP200"
"0000336792"	"SNRNP200"
"0000336793"	"SNRNP200"
"0000336794"	"SNRNP200"
"0000336960"	"SNRNP200"
"0000336967"	"SNRNP200"
"0000336968"	"SNRNP200"
"0000336969"	"SNRNP200"
"0000336970"	"SNRNP200"
"0000336971"	"SNRNP200"
"0000336972"	"SNRNP200"
"0000363302"	"SNRNP200"
"0000364643"	"SNRNP200"
"0000364644"	"SNRNP200"
"0000364645"	"SNRNP200"
"0000364646"	"SNRNP200"
"0000364869"	"SNRNP200"
"0000364908"	"SNRNP200"
"0000374718"	"SNRNP200"
"0000374719"	"SNRNP200"
"0000375093"	"SNRNP200"
"0000375157"	"SNRNP200"
"0000376486"	"SNRNP200"
"0000376487"	"SNRNP200"
"0000376541"	"SNRNP200"
"0000376646"	"SNRNP200"
"0000376647"	"SNRNP200"
"0000378683"	"SNRNP200"
"0000378684"	"SNRNP200"
"0000378685"	"SNRNP200"
"0000378686"	"SNRNP200"
"0000378687"	"SNRNP200"
"0000378688"	"SNRNP200"
"0000380632"	"SNRNP200"
"0000380651"	"SNRNP200"
"0000381097"	"SNRNP200"
"0000382065"	"SNRNP200"
"0000382066"	"SNRNP200"
"0000382067"	"SNRNP200"
"0000382456"	"SNRNP200"
"0000382892"	"SNRNP200"
"0000382921"	"SNRNP200"
"0000383035"	"SNRNP200"
"0000383124"	"SNRNP200"
"0000383125"	"SNRNP200"
"0000383126"	"SNRNP200"
"0000383653"	"SNRNP200"
"0000383818"	"SNRNP200"
"0000385524"	"SNRNP200"
"0000385649"	"SNRNP200"
"0000386283"	"SNRNP200"
"0000386850"	"SNRNP200"
"0000387486"	"EYS"
"0000387530"	"ABCA4"
"0000387838"	"SNRNP200"
"0000387875"	"SNRNP200"
"0000387884"	"SNRNP200"
"0000387898"	"SNRNP200"
"0000388022"	"SNRNP200"
"0000388144"	"USH2A"
"0000388147"	"SNRNP200"
"0000388255"	"SNRNP200"
"0000388256"	"SNRNP200"
"0000388257"	"SNRNP200"
"0000390136"	"SNRNP200"
"0000390174"	"SNRNP200"
"0000390175"	"SNRNP200"
"0000390176"	"SNRNP200"
"0000390385"	"SNRNP200"
"0000390386"	"SNRNP200"
"0000390387"	"SNRNP200"
"0000390707"	"SNRNP200"
"0000390708"	"SNRNP200"
"0000390709"	"SNRNP200"
"0000390710"	"SNRNP200"
"0000390734"	"SNRNP200"
"0000390735"	"SNRNP200"
"0000390736"	"SNRNP200"
"0000390763"	"SNRNP200"
"0000390813"	"SNRNP200"
"0000390823"	"SNRNP200"
"0000390918"	"SNRNP200"
"0000391018"	"SNRNP200"
"0000391041"	"SNRNP200"
"0000391185"	"SNRNP200"
"0000391230"	"SNRNP200"
"0000391238"	"SNRNP200"
"0000391644"	"SNRNP200"
"0000392165"	"SNRNP200"
"0000393361"	"SNRNP200"
"0000393362"	"SNRNP200"
"0000393363"	"SNRNP200"
"0000393364"	"SNRNP200"
"0000393365"	"SNRNP200"
"0000393366"	"SNRNP200"
"0000393367"	"SNRNP200"
"0000393370"	"SNRNP200"
"0000393372"	"SNRNP200"
"0000393377"	"RPGR"
"0000393386"	"SNRNP200"
"0000393387"	"SNRNP200"
"0000393388"	"SNRNP200"
"0000393389"	"SNRNP200"
"0000393390"	"SNRNP200"
"0000393391"	"SNRNP200"
"0000393392"	"SNRNP200"
"0000393395"	"SNRNP200"
"0000393397"	"SNRNP200"
"0000393402"	"RPGR"
"0000393569"	"SNRNP200"
"0000393579"	"SNRNP200"
"0000393605"	"SNRNP200"
"0000393612"	"SNRNP200"
"0000393623"	"SNRNP200"
"0000393632"	"SNRNP200"
"0000393634"	"SNRNP200"
"0000393636"	"SNRNP200"
"0000393842"	"SNRNP200"
"0000393914"	"SNRNP200"
"0000394792"	"SNRNP200"
"0000394814"	"SNRNP200"
"0000394947"	"SNRNP200"
"0000395045"	"SNRNP200"
"0000395785"	"SNRNP200"
"0000395786"	"SNRNP200"
"0000395787"	"SNRNP200"
"0000395788"	"SNRNP200"
"0000397167"	"SNRNP200"
"0000397183"	"SNRNP200"
"0000397801"	"RPGR"
"0000397872"	"CERKL"
"0000397889"	"SNRNP200"
"0000417751"	"SNRNP200"
"0000417752"	"SNRNP200"
"0000417753"	"SNRNP200"
"0000417754"	"SNRNP200"
"0000417755"	"SNRNP200"
"0000417756"	"SNRNP200"
"0000417757"	"SNRNP200"
"0000417758"	"SNRNP200"
"0000417759"	"SNRNP200"
"0000417760"	"SNRNP200"
"0000417761"	"SNRNP200"
"0000417762"	"SNRNP200"
"0000417763"	"SNRNP200"
"0000417764"	"SNRNP200"
"0000417765"	"SNRNP200"
"0000417766"	"SNRNP200"
"0000417767"	"SNRNP200"
"0000417768"	"SNRNP200"
"0000417769"	"SNRNP200"
"0000417770"	"SNRNP200"
"0000417771"	"SNRNP200"
"0000417772"	"SNRNP200"
"0000417773"	"SNRNP200"
"0000417774"	"SNRNP200"
"0000417782"	"SNRNP200"
"0000417783"	"SNRNP200"
"0000417784"	"SNRNP200"
"0000417785"	"SNRNP200"
"0000417786"	"SNRNP200"
"0000417787"	"SNRNP200"
"0000417788"	"SNRNP200"
"0000417789"	"SNRNP200"
"0000417790"	"SNRNP200"
"0000417791"	"SNRNP200"
"0000417792"	"SNRNP200"
"0000417793"	"SNRNP200"
"0000417794"	"SNRNP200"
"0000417795"	"SNRNP200"
"0000417796"	"SNRNP200"
"0000417797"	"SNRNP200"
"0000417798"	"SNRNP200"
"0000417799"	"SNRNP200"
"0000417800"	"SNRNP200"
"0000417801"	"SNRNP200"
"0000417802"	"SNRNP200"
"0000417803"	"SNRNP200"
"0000417804"	"SNRNP200"
"0000417805"	"SNRNP200"
"0000417806"	"SNRNP200"
"0000417808"	"SNRNP200"
"0000417809"	"SNRNP200"
"0000417810"	"SNRNP200"
"0000417811"	"SNRNP200"
"0000417812"	"SNRNP200"
"0000417813"	"SNRNP200"
"0000417814"	"SNRNP200"
"0000417815"	"SNRNP200"
"0000417816"	"SNRNP200"
"0000417817"	"SNRNP200"
"0000417818"	"SNRNP200"
"0000417819"	"SNRNP200"
"0000417820"	"SNRNP200"
"0000417821"	"SNRNP200"
"0000417822"	"SNRNP200"
"0000417823"	"SNRNP200"
"0000417824"	"SNRNP200"
"0000417825"	"SNRNP200"
"0000417826"	"SNRNP200"
"0000417827"	"SNRNP200"
"0000417828"	"SNRNP200"
"0000417829"	"SNRNP200"
"0000417830"	"SNRNP200"
"0000417831"	"SNRNP200"
"0000417833"	"SNRNP200"
"0000417834"	"SNRNP200"
"0000417835"	"SNRNP200"
"0000417836"	"SNRNP200"
"0000417837"	"SNRNP200"
"0000417838"	"SNRNP200"
"0000417839"	"SNRNP200"
"0000417840"	"SNRNP200"
"0000417841"	"SNRNP200"
"0000421730"	"SNRNP200"
"0000421841"	"SNRNP200"
"0000422139"	"SNRNP200"
"0000422140"	"SNRNP200"
"0000422141"	"SNRNP200"
"0000422142"	"SNRNP200"
"0000422143"	"SNRNP200"
"0000422144"	"SNRNP200"
"0000422145"	"SNRNP200"
"0000422146"	"SNRNP200"
"0000425363"	"SNRNP200"
"0000425364"	"SNRNP200"
"0000430913"	"SNRNP200"
"0000430931"	"SNRNP200"
"0000431212"	"SNRNP200"
"0000431255"	"SNRNP200"
"0000431257"	"SNRNP200"
"0000431349"	"SNRNP200"
"0000431475"	"SNRNP200"
"0000437938"	"SNRNP200"


## 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 = 423
"{{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}}"
"0000001164"	"0"	"50"	"6"	"18122506"	"18122506"	"subst"	"0.403147"	"00002"	"NHLRC1_000001"	"g.18122506G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.18122275G>A"	""	"VUS"	""
"0000019495"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00102"	"SNRNP200_000008"	"g.96958829G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	""
"0000060520"	"1"	"30"	"2"	"96963419"	"96963419"	"subst"	"0.0028506"	"00229"	"SNRNP200_000001"	"g.96963419T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted unknown effect on function, present at significant fraction in Exome Variant Server"	"Germline"	"yes"	""	"0"	""	""	"g.96297681T>C"	""	"likely benign"	""
"0000060521"	"1"	"70"	"2"	"96955053"	"96955053"	"subst"	"0.000889615"	"00229"	"SNRNP200_000002"	"g.96955053T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	"no"	""	"0"	""	""	"g.96289315T>C"	""	"likely pathogenic"	""
"0000060522"	"1"	"50"	"2"	"96950323"	"96950323"	"subst"	"0.00548378"	"00229"	"SNRNP200_000003"	"g.96950323C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96284585C>T"	""	"VUS"	""
"0000060523"	"2"	"50"	"2"	"96950323"	"96950323"	"subst"	"0.00548378"	"00229"	"SNRNP200_000003"	"g.96950323C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96284585C>T"	""	"VUS"	""
"0000060524"	"1"	"10"	"2"	"96944756"	"96944756"	"subst"	"0"	"00229"	"SNRNP200_000004"	"g.96944756A>G"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	""	""	"0"	""	""	"g.96279018A>G"	""	"benign"	""
"0000060525"	"1"	"10"	"2"	"96944756"	"96944756"	"subst"	"0"	"00229"	"SNRNP200_000004"	"g.96944756A>G"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.96279018A>G"	""	"benign"	""
"0000060526"	"1"	"10"	"2"	"96966798"	"96966798"	"subst"	"0"	"00229"	"SNRNP200_000005"	"g.96966798C>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	""	""	"0"	""	""	"g.96301060C>A"	""	"benign"	""
"0000060527"	"1"	"70"	"2"	"96940821"	"96940821"	"subst"	"0"	"00229"	"SNRNP200_000006"	"g.96940821T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	"no"	""	"0"	""	""	"g.96275083T>C"	""	"likely pathogenic"	""
"0000060528"	"1"	"50"	"2"	"0"	"0"	"subst"	"0"	"00229"	"SNRNP200_000007"	"g.?"	""	"{PMID:Neveling 2012:22334370}"	""	"IVS31-9G>A"	"no G at 4393-9"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000060529"	"21"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"01244"	"SNRNP200_000009"	"g.96958828C>A"	""	"{PMID:De Castro-Miró 2014:24516651}"	"HpyAV+"	""	""	"Germline"	""	""	"0"	""	""	"g.96293090C>A"	""	"pathogenic"	""
"0000245951"	"0"	"10"	"2"	"96940900"	"96940900"	"del"	"0"	"02330"	"SNRNP200_000038"	"g.96940900del"	""	""	""	"SNRNP200(NM_014014.5):c.6268-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96275162del"	""	"benign"	""
"0000248521"	"0"	"10"	"2"	"96952833"	"96952833"	"subst"	"0.316383"	"02325"	"SNRNP200_000039"	"g.96952833A>G"	""	""	""	"SNRNP200(NM_014014.5):c.3550T>C (p.L1184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96287095A>G"	""	"benign"	""
"0000296063"	"0"	"10"	"2"	"96963419"	"96963419"	"subst"	"0.0028506"	"02330"	"SNRNP200_000001"	"g.96963419T>C"	""	""	""	"SNRNP200(NM_014014.4):c.1159A>G (p.M387V), SNRNP200(NM_014014.5):c.1159A>G (p.M387V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96297681T>C"	""	"benign"	""
"0000296064"	"0"	"50"	"2"	"96963111"	"96963111"	"subst"	"3.24968E-5"	"02330"	"SNRNP200_000031"	"g.96963111C>G"	""	""	""	"SNRNP200(NM_014014.5):c.1367G>C (p.G456A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96297373C>G"	""	"VUS"	""
"0000296065"	"0"	"10"	"2"	"96955053"	"96955053"	"subst"	"0.000889615"	"02330"	"SNRNP200_000002"	"g.96955053T>C"	""	""	""	"SNRNP200(NM_014014.4):c.3005A>G (p.N1002S), SNRNP200(NM_014014.5):c.3005A>G (p.N1002S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96289315T>C"	""	"benign"	""
"0000296066"	"0"	"10"	"2"	"96952774"	"96952774"	"subst"	"0"	"02330"	"SNRNP200_000027"	"g.96952774G>A"	""	""	""	"SNRNP200(NM_014014.5):c.3609C>T (p.T1203=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96287036G>A"	""	"benign"	""
"0000296067"	"0"	"10"	"2"	"96952176"	"96952176"	"subst"	"0.00114188"	"02330"	"SNRNP200_000026"	"g.96952176C>T"	""	""	""	"SNRNP200(NM_014014.5):c.3876G>A (p.P1292=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96286438C>T"	""	"benign"	""
"0000296068"	"0"	"10"	"2"	"96952155"	"96952155"	"subst"	"0.000641838"	"02330"	"SNRNP200_000025"	"g.96952155G>C"	""	""	""	"SNRNP200(NM_014014.4):c.3897C>G (p.T1299=), SNRNP200(NM_014014.5):c.3897C>G (p.T1299=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96286417G>C"	""	"benign"	""
"0000296069"	"0"	"50"	"2"	"96951069"	"96951069"	"subst"	"4.07014E-6"	"02330"	"SNRNP200_000024"	"g.96951069G>A"	""	""	""	"SNRNP200(NM_014014.5):c.4013C>T (p.T1338I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96285331G>A"	""	"VUS"	""
"0000296070"	"0"	"10"	"2"	"96950323"	"96950323"	"subst"	"0.00548378"	"02330"	"SNRNP200_000003"	"g.96950323C>T"	""	""	""	"SNRNP200(NM_014014.4):c.4165G>A (p.V1389I), SNRNP200(NM_014014.5):c.4165G>A (p.V1389I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96284585C>T"	""	"benign"	""
"0000296071"	"0"	"10"	"2"	"96950135"	"96950135"	"subst"	"0"	"02330"	"SNRNP200_000021"	"g.96950135G>A"	""	""	""	"SNRNP200(NM_014014.5):c.4353C>T (p.F1451=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96284397G>A"	""	"benign"	""
"0000296072"	"0"	"50"	"2"	"96949580"	"96949580"	"subst"	"0"	"02330"	"SNRNP200_000020"	"g.96949580G>A"	""	""	""	"SNRNP200(NM_014014.5):c.4555C>T (p.R1519C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96283842G>A"	""	"VUS"	""
"0000296073"	"0"	"10"	"2"	"96949533"	"96949533"	"subst"	"0.00231784"	"02330"	"SNRNP200_000019"	"g.96949533G>A"	""	""	""	"SNRNP200(NM_014014.5):c.4584+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96283795G>A"	""	"benign"	""
"0000296074"	"0"	"10"	"2"	"96945231"	"96945231"	"subst"	"4.06375E-6"	"02330"	"SNRNP200_000016"	"g.96945231G>A"	""	""	""	"SNRNP200(NM_014014.5):c.5091C>T (p.D1697=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96279493G>A"	""	"benign"	""
"0000296075"	"0"	"10"	"2"	"96970601"	"96970601"	"subst"	"2.03239E-5"	"02330"	"SNRNP200_000034"	"g.96970601C>A"	""	""	""	"SNRNP200(NM_014014.5):c.51G>T (p.S17=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96304863C>A"	""	"benign"	""
"0000296076"	"0"	"10"	"2"	"96944355"	"96944355"	"subst"	"0.000739375"	"02330"	"SNRNP200_000015"	"g.96944355G>A"	""	""	""	"SNRNP200(NM_014014.5):c.5418C>T (p.D1806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96278617G>A"	""	"benign"	""
"0000296077"	"0"	"10"	"2"	"96944065"	"96944065"	"subst"	"0.00073905"	"02330"	"SNRNP200_000014"	"g.96944065G>C"	""	""	""	"SNRNP200(NM_014014.5):c.5520C>G (p.T1840=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96278327G>C"	""	"benign"	""
"0000296078"	"0"	"10"	"2"	"96944047"	"96944047"	"subst"	"0.000515707"	"02330"	"SNRNP200_000013"	"g.96944047G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5538C>T (p.I1846=), SNRNP200(NM_014014.5):c.5538C>T (p.I1846=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96278309G>A"	""	"benign"	""
"0000296079"	"0"	"30"	"2"	"96943635"	"96943635"	"subst"	"0.00298857"	"02330"	"SNRNP200_000012"	"g.96943635G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5664C>T (p.H1888=), SNRNP200(NM_014014.5):c.5664C>T (p.H1888=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96277897G>A"	""	"likely benign"	""
"0000296080"	"0"	"10"	"2"	"96943442"	"96943442"	"subst"	"0.00239233"	"02330"	"SNRNP200_000010"	"g.96943442G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5766C>T (p.L1922=), SNRNP200(NM_014014.5):c.5766C>T (p.L1922=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96277704G>A"	""	"benign"	""
"0000296081"	"0"	"10"	"2"	"96964703"	"96964703"	"subst"	"0.00351257"	"02330"	"SNRNP200_000033"	"g.96964703G>A"	""	""	""	"SNRNP200(NM_014014.5):c.732C>T (p.L244=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96298965G>A"	""	"benign"	""
"0000298429"	"0"	"10"	"2"	"96943473"	"96943473"	"subst"	"0.36963"	"02325"	"SNRNP200_000011"	"g.96943473T>C"	""	""	""	"SNRNP200(NM_014014.5):c.5755-20A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96277735T>C"	""	"benign"	""
"0000308670"	"0"	"30"	"2"	"96964070"	"96964070"	"subst"	"0"	"01943"	"SNRNP200_000032"	"g.96964070G>A"	""	""	""	"SNRNP200(NM_014014.4):c.1071C>T (p.S357=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96298332G>A"	""	"likely benign"	""
"0000308671"	"0"	"30"	"2"	"96963419"	"96963419"	"subst"	"0.0028506"	"01943"	"SNRNP200_000001"	"g.96963419T>C"	""	""	""	"SNRNP200(NM_014014.4):c.1159A>G (p.M387V), SNRNP200(NM_014014.5):c.1159A>G (p.M387V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96297681T>C"	""	"likely benign"	""
"0000308672"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"01943"	"SNRNP200_000008"	"g.96958829G>A"	""	""	""	"SNRNP200(NM_014014.4):c.2041C>T (p.R681C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	""
"0000308673"	"0"	"50"	"2"	"96958748"	"96958748"	"subst"	"0.000142137"	"01943"	"SNRNP200_000030"	"g.96958748C>T"	""	""	""	"SNRNP200(NM_014014.4):c.2122G>A (p.V708I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96293010C>T"	""	"VUS"	""
"0000308674"	"0"	"30"	"2"	"96955533"	"96955533"	"subst"	"8.94549E-5"	"01943"	"SNRNP200_000029"	"g.96955533G>A"	""	""	""	"SNRNP200(NM_014014.4):c.2940+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96289795G>A"	""	"likely benign"	""
"0000308675"	"0"	"50"	"2"	"96954819"	"96954819"	"subst"	"9.81354E-5"	"01943"	"SNRNP200_000028"	"g.96954819C>A"	""	""	""	"SNRNP200(NM_014014.4):c.3130G>T (p.V1044L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96289081C>A"	""	"VUS"	""
"0000308676"	"0"	"30"	"2"	"96952155"	"96952155"	"subst"	"0.000641838"	"01943"	"SNRNP200_000025"	"g.96952155G>C"	""	""	""	"SNRNP200(NM_014014.4):c.3897C>G (p.T1299=), SNRNP200(NM_014014.5):c.3897C>G (p.T1299=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96286417G>C"	""	"likely benign"	""
"0000308677"	"0"	"30"	"2"	"96951047"	"96951047"	"subst"	"1.62676E-5"	"01943"	"SNRNP200_000023"	"g.96951047G>A"	""	""	""	"SNRNP200(NM_014014.4):c.4035C>T (p.N1345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96285309G>A"	""	"likely benign"	""
"0000308678"	"0"	"30"	"2"	"96951002"	"96951002"	"subst"	"0.000699437"	"01943"	"SNRNP200_000022"	"g.96951002T>A"	""	""	""	"SNRNP200(NM_014014.4):c.4080A>T (p.A1360=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96285264T>A"	""	"likely benign"	""
"0000308679"	"0"	"30"	"2"	"96950323"	"96950323"	"subst"	"0.00548378"	"01943"	"SNRNP200_000003"	"g.96950323C>T"	""	""	""	"SNRNP200(NM_014014.4):c.4165G>A (p.V1389I), SNRNP200(NM_014014.5):c.4165G>A (p.V1389I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96284585C>T"	""	"likely benign"	""
"0000308680"	"0"	"50"	"2"	"96949358"	"96949358"	"subst"	"5.68856E-5"	"01943"	"SNRNP200_000018"	"g.96949358T>C"	""	""	""	"SNRNP200(NM_014014.4):c.4678A>G (p.I1560V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96283620T>C"	""	"VUS"	""
"0000338955"	"0"	"10"	"2"	"96943473"	"96943473"	"subst"	"0.36963"	"02327"	"SNRNP200_000011"	"g.96943473T>C"	""	""	""	"SNRNP200(NM_014014.5):c.5755-20A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96277735T>C"	""	"benign"	""
"0000343154"	"0"	"50"	"2"	"96961276"	"96961276"	"subst"	"3.26057E-5"	"02327"	"SNRNP200_000037"	"g.96961276G>A"	""	""	""	"SNRNP200(NM_014014.5):c.1792C>T (p.R598C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96295538G>A"	""	"VUS"	""
"0000348253"	"0"	"30"	"2"	"96943655"	"96943655"	"subst"	"0"	"02327"	"SNRNP200_000035"	"g.96943655G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96277917G>T"	""	"likely benign"	""
"0000348651"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"02327"	"SNRNP200_000036"	"g.96953706G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000476111"	"0"	"50"	"2"	"96942978"	"96942978"	"subst"	"0"	"02591"	"SNRNP200_000040"	"g.96942978C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96277240C>A"	""	"VUS"	""
"0000476112"	"0"	"50"	"2"	"96944582"	"96944582"	"subst"	"0"	"02591"	"SNRNP200_000041"	"g.96944582C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96278844C>T"	""	"VUS"	""
"0000476113"	"0"	"90"	"2"	"96945225"	"96945225"	"del"	"0"	"02591"	"SNRNP200_000042"	"g.96945225del"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96279487del"	""	"pathogenic"	""
"0000476114"	"0"	"50"	"2"	"96949315"	"96949315"	"subst"	"4.469E-5"	"02591"	"SNRNP200_000043"	"g.96949315A>G"	"8/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs199736893"	"0"	""	""	"g.96283577A>G"	""	"VUS"	""
"0000476115"	"0"	"50"	"2"	"96949648"	"96949648"	"subst"	"1.83871E-5"	"02591"	"SNRNP200_000044"	"g.96949648T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs777905152"	"0"	""	""	"g.96283910T>C"	""	"VUS"	""
"0000476116"	"0"	"50"	"2"	"96950134"	"96950134"	"subst"	"0"	"02591"	"SNRNP200_000045"	"g.96950134C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96284396C>T"	""	"VUS"	""
"0000476117"	"0"	"50"	"2"	"96951010"	"96951010"	"subst"	"0"	"02591"	"SNRNP200_000046"	"g.96951010T>C"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96285272T>C"	""	"VUS"	""
"0000476118"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"02591"	"SNRNP200_000036"	"g.96953706G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs267607077"	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000476119"	"0"	"50"	"2"	"96955074"	"96955074"	"subst"	"8.93728E-5"	"02591"	"SNRNP200_000047"	"g.96955074T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs143494993"	"0"	""	""	"g.96289336T>C"	""	"VUS"	""
"0000476120"	"0"	"50"	"2"	"96955677"	"96955677"	"subst"	"0"	"02591"	"SNRNP200_000048"	"g.96955677T>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96289939T>G"	""	"VUS"	""
"0000476121"	"3"	"50"	"2"	"96955737"	"96955737"	"subst"	"1.22007E-5"	"02591"	"SNRNP200_000049"	"g.96955737A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs759342154"	"0"	""	""	"g.96289999A>G"	""	"VUS"	""
"0000476122"	"0"	"90"	"2"	"96956213"	"96956213"	"subst"	"0"	"02591"	"SNRNP200_000050"	"g.96956213C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs786205529"	"0"	""	""	"g.96290475C>T"	""	"pathogenic"	""
"0000476123"	"0"	"50"	"2"	"96956532"	"96956532"	"subst"	"0"	"02591"	"SNRNP200_000051"	"g.96956532G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96290794G>C"	""	"VUS"	""
"0000476124"	"0"	"90"	"2"	"96958826"	"96958826"	"subst"	"0"	"02591"	"SNRNP200_000052"	"g.96958826G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293088G>A"	""	"pathogenic"	""
"0000476125"	"0"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"02591"	"SNRNP200_000053"	"g.96958828C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236113"	"0"	""	""	"g.96293090C>T"	""	"pathogenic"	""
"0000476126"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"02591"	"SNRNP200_000008"	"g.96958829G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	""
"0000476127"	"0"	"50"	"2"	"96961365"	"96961365"	"subst"	"0"	"02591"	"SNRNP200_000054"	"g.96961365T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96295627T>C"	""	"VUS"	""
"0000476128"	"0"	"50"	"2"	"96961395"	"96961395"	"subst"	"8.24375E-6"	"02591"	"SNRNP200_000055"	"g.96961395C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs761340019"	"0"	""	""	"g.96295657C>T"	""	"VUS"	""
"0000476129"	"0"	"50"	"2"	"96962425"	"96962425"	"subst"	"0"	"02591"	"SNRNP200_000056"	"g.96962425G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96296687G>A"	""	"VUS"	""
"0000476130"	"0"	"50"	"2"	"96963102"	"96963102"	"subst"	"0"	"02591"	"SNRNP200_000057"	"g.96963102T>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96297364T>A"	""	"VUS"	""
"0000476131"	"0"	"50"	"2"	"96964023"	"96964023"	"subst"	"8.12209E-6"	"02591"	"SNRNP200_000058"	"g.96964023C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs745786225"	"0"	""	""	"g.96298285C>T"	""	"VUS"	""
"0000476132"	"0"	"50"	"2"	"96965068"	"96965068"	"subst"	"0"	"02591"	"SNRNP200_000059"	"g.96965068T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96299330T>C"	""	"VUS"	""
"0000517138"	"0"	"30"	"2"	"96942978"	"96942978"	"subst"	"0.00681876"	"01943"	"CIAO1_000004"	"g.96942978C>G"	""	""	""	"SNRNP200(NM_014014.4):c.5933G>C (p.G1978A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96277240C>G"	""	"likely benign"	""
"0000517140"	"0"	"30"	"2"	"96943442"	"96943442"	"subst"	"0.00239233"	"01943"	"SNRNP200_000010"	"g.96943442G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5766C>T (p.L1922=), SNRNP200(NM_014014.5):c.5766C>T (p.L1922=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96277704G>A"	""	"likely benign"	""
"0000517141"	"0"	"30"	"2"	"96943635"	"96943635"	"subst"	"0.00298857"	"01943"	"SNRNP200_000012"	"g.96943635G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5664C>T (p.H1888=), SNRNP200(NM_014014.5):c.5664C>T (p.H1888=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96277897G>A"	""	"likely benign"	""
"0000517142"	"0"	"10"	"2"	"96943993"	"96943993"	"subst"	"0"	"02330"	"CIAO1_000005"	"g.96943993T>C"	""	""	""	"SNRNP200(NM_014014.5):c.5592A>G (p.E1864=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96278255T>C"	""	"benign"	""
"0000517143"	"0"	"30"	"2"	"96944047"	"96944047"	"subst"	"0.000515707"	"01943"	"SNRNP200_000013"	"g.96944047G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5538C>T (p.I1846=), SNRNP200(NM_014014.5):c.5538C>T (p.I1846=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96278309G>A"	""	"likely benign"	""
"0000517144"	"0"	"10"	"2"	"96944114"	"96944114"	"subst"	"2.03135E-5"	"02330"	"CIAO1_000006"	"g.96944114T>A"	""	""	""	"SNRNP200(NM_014014.5):c.5489-18A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96278376T>A"	""	"benign"	""
"0000517145"	"0"	"10"	"2"	"96944689"	"96944689"	"subst"	"0"	"02330"	"CIAO1_000007"	"g.96944689G>A"	""	""	""	"SNRNP200(NM_014014.5):c.5181C>T (p.H1727=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96278951G>A"	""	"benign"	""
"0000517146"	"0"	"30"	"2"	"96945252"	"96945252"	"subst"	"8.12962E-6"	"01943"	"SNRNP200_000060"	"g.96945252G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5070C>T (p.H1690=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96279514G>A"	""	"likely benign"	""
"0000517147"	"0"	"50"	"2"	"96947579"	"96947579"	"subst"	"0"	"02330"	"SNRNP200_000061"	"g.96947579G>C"	""	""	""	"SNRNP200(NM_014014.5):c.4997C>G (p.T1666S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96281841G>C"	""	"VUS"	""
"0000517148"	"0"	"50"	"2"	"96947610"	"96947610"	"subst"	"3.24889E-5"	"02330"	"SNRNP200_000062"	"g.96947610C>T"	""	""	""	"SNRNP200(NM_014014.5):c.4966G>A (p.V1656M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96281872C>T"	""	"VUS"	""
"0000517149"	"0"	"10"	"2"	"96949036"	"96949036"	"subst"	"0.000154649"	"02330"	"SNRNP200_000063"	"g.96949036G>A"	""	""	""	"SNRNP200(NM_014014.5):c.4818C>T (p.D1606=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96283298G>A"	""	"benign"	""
"0000517150"	"0"	"50"	"2"	"96950305"	"96950305"	"subst"	"0"	"02330"	"SNRNP200_000064"	"g.96950305C>T"	""	""	""	"SNRNP200(NM_014014.5):c.4183G>A (p.E1395K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96284567C>T"	""	"VUS"	""
"0000517151"	"0"	"50"	"2"	"96952585"	"96952585"	"subst"	"0"	"02330"	"SNRNP200_000065"	"g.96952585G>T"	""	""	""	"SNRNP200(NM_014014.5):c.3670C>A (p.L1224M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96286847G>T"	""	"VUS"	""
"0000517152"	"0"	"50"	"2"	"96952769"	"96952769"	"subst"	"1.62591E-5"	"02330"	"SNRNP200_000066"	"g.96952769G>A"	""	""	""	"SNRNP200(NM_014014.5):c.3614C>T (p.T1205M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96287031G>A"	""	"VUS"	""
"0000517153"	"0"	"50"	"2"	"96952769"	"96952769"	"subst"	"1.62591E-5"	"02327"	"SNRNP200_000066"	"g.96952769G>A"	""	""	""	"SNRNP200(NM_014014.5):c.3614C>T (p.T1205M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96287031G>A"	""	"VUS"	""
"0000517154"	"0"	"50"	"2"	"96953640"	"96953640"	"subst"	"0"	"02327"	"SNRNP200_000067"	"g.96953640T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96287902T>G"	""	"VUS"	""
"0000517155"	"0"	"30"	"2"	"96953651"	"96953651"	"subst"	"0.00161616"	"01943"	"SNRNP200_000068"	"g.96953651T>C"	""	""	""	"SNRNP200(NM_014014.4):c.3315A>G (p.A1105=), SNRNP200(NM_014014.5):c.3315A>G (p.A1105=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96287913T>C"	""	"likely benign"	""
"0000517156"	"0"	"50"	"2"	"96954984"	"96954984"	"subst"	"0"	"02330"	"SNRNP200_000069"	"g.96954984T>C"	""	""	""	"SNRNP200(NM_014014.5):c.3074A>G (p.K1025R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96289246T>C"	""	"VUS"	""
"0000517157"	"0"	"50"	"2"	"96955011"	"96955011"	"subst"	"0"	"02330"	"SNRNP200_000070"	"g.96955011C>T"	""	""	""	"SNRNP200(NM_014014.5):c.3047G>A (p.R1016K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96289273C>T"	""	"VUS"	""
"0000517158"	"0"	"50"	"2"	"96955053"	"96955053"	"subst"	"0.000889615"	"01943"	"SNRNP200_000002"	"g.96955053T>C"	""	""	""	"SNRNP200(NM_014014.4):c.3005A>G (p.N1002S), SNRNP200(NM_014014.5):c.3005A>G (p.N1002S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96289315T>C"	""	"VUS"	""
"0000517159"	"0"	"50"	"2"	"96955107"	"96955107"	"subst"	"0"	"02330"	"SNRNP200_000071"	"g.96955107A>T"	""	""	""	"SNRNP200(NM_014014.5):c.2951T>A (p.L984Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96289369A>T"	""	"VUS"	""
"0000517160"	"0"	"10"	"2"	"96955677"	"96955677"	"subst"	"0.00259564"	"02330"	"SNRNP200_000072"	"g.96955677T>C"	""	""	""	"SNRNP200(NM_014014.4):c.2800A>G (p.T934A), SNRNP200(NM_014014.5):c.2800A>G (p.T934A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96289939T>C"	""	"benign"	""
"0000517161"	"0"	"10"	"2"	"96955677"	"96955677"	"subst"	"0.00259564"	"01943"	"SNRNP200_000072"	"g.96955677T>C"	""	""	""	"SNRNP200(NM_014014.4):c.2800A>G (p.T934A), SNRNP200(NM_014014.5):c.2800A>G (p.T934A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96289939T>C"	""	"benign"	""
"0000517162"	"0"	"10"	"2"	"96957470"	"96957470"	"subst"	"0.00106005"	"02330"	"SNRNP200_000073"	"g.96957470C>T"	""	""	""	"SNRNP200(NM_014014.5):c.2310+19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96291732C>T"	""	"benign"	""
"0000517163"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"02327"	"SNRNP200_000008"	"g.96958829G>A"	""	""	""	"SNRNP200(NM_014014.4):c.2041C>T (p.R681C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000517164"	"0"	"30"	"2"	"96958830"	"96958830"	"subst"	"4.06171E-6"	"01943"	"SNRNP200_000074"	"g.96958830G>A"	""	""	""	"SNRNP200(NM_014014.4):c.2040C>T (p.F680=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96293092G>A"	""	"likely benign"	""
"0000517165"	"0"	"50"	"2"	"96961305"	"96961305"	"subst"	"0"	"02330"	"SNRNP200_000075"	"g.96961305C>A"	""	""	""	"SNRNP200(NM_014014.5):c.1763G>T (p.C588F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96295567C>A"	""	"VUS"	""
"0000517166"	"0"	"10"	"2"	"96962256"	"96962256"	"subst"	"0.00123845"	"02330"	"SNRNP200_000076"	"g.96962256A>G"	""	""	""	"SNRNP200(NM_014014.5):c.1671+18T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96296518A>G"	""	"benign"	""
"0000517167"	"0"	"50"	"2"	"96962717"	"96962717"	"subst"	"8.12262E-6"	"01943"	"SNRNP200_000077"	"g.96962717C>T"	""	""	""	"SNRNP200(NM_014014.4):c.1469G>A (p.R490H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96296979C>T"	""	"VUS"	""
"0000517168"	"0"	"10"	"2"	"96963366"	"96963366"	"subst"	"0.000272075"	"02330"	"SNRNP200_000078"	"g.96963366G>A"	""	""	""	"SNRNP200(NM_014014.4):c.1203+9C>T, SNRNP200(NM_014014.5):c.1203+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96297628G>A"	""	"benign"	""
"0000517169"	"0"	"30"	"2"	"96963366"	"96963366"	"subst"	"0.000272075"	"01943"	"SNRNP200_000078"	"g.96963366G>A"	""	""	""	"SNRNP200(NM_014014.4):c.1203+9C>T, SNRNP200(NM_014014.5):c.1203+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96297628G>A"	""	"likely benign"	""
"0000517170"	"0"	"30"	"2"	"96966788"	"96966788"	"subst"	"0.000109642"	"02330"	"SNRNP200_000079"	"g.96966788T>C"	""	""	""	"SNRNP200(NM_014014.4):c.578A>G (p.D193G), SNRNP200(NM_014014.5):c.578A>G (p.D193G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96301050T>C"	""	"likely benign"	""
"0000517171"	"0"	"30"	"2"	"96966788"	"96966788"	"subst"	"0.000109642"	"01943"	"SNRNP200_000079"	"g.96966788T>C"	""	""	""	"SNRNP200(NM_014014.4):c.578A>G (p.D193G), SNRNP200(NM_014014.5):c.578A>G (p.D193G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96301050T>C"	""	"likely benign"	""
"0000517172"	"0"	"30"	"2"	"96967375"	"96967375"	"subst"	"2.03029E-5"	"01943"	"SNRNP200_000080"	"g.96967375C>T"	""	""	""	"SNRNP200(NM_014014.4):c.461G>A (p.R154Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96301637C>T"	""	"likely benign"	""
"0000517173"	"0"	"30"	"2"	"96969005"	"96969005"	"subst"	"0.000178666"	"02330"	"SNRNP200_000081"	"g.96969005C>T"	""	""	""	"SNRNP200(NM_014014.5):c.273G>A (p.S91=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96303267C>T"	""	"likely benign"	""
"0000517174"	"0"	"10"	"2"	"96969079"	"96969079"	"subst"	"0.0016204"	"02330"	"SNRNP200_000082"	"g.96969079T>A"	""	""	""	"SNRNP200(NM_014014.5):c.210-11A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96303341T>A"	""	"benign"	""
"0000608156"	"0"	"30"	"2"	"96944361"	"96944361"	"subst"	"3.65553E-5"	"01943"	"CIAO1_000008"	"g.96944361G>A"	""	""	""	"SNRNP200(NM_014014.4):c.5412C>T (p.I1804=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96278623G>A"	""	"likely benign"	""
"0000608157"	"0"	"50"	"2"	"96949338"	"96949338"	"subst"	"0"	"02330"	"SNRNP200_000084"	"g.96949338G>A"	""	""	""	"SNRNP200(NM_014014.5):c.4698C>T (p.R1566=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96283600G>A"	""	"VUS"	""
"0000608158"	"0"	"30"	"2"	"96952520"	"96952520"	"subst"	"0.000105612"	"02330"	"SNRNP200_000086"	"g.96952520G>A"	""	""	""	"SNRNP200(NM_014014.5):c.3735C>T (p.Y1245=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96286782G>A"	""	"likely benign"	""
"0000608159"	"0"	"30"	"2"	"96968890"	"96968890"	"subst"	"0"	"01943"	"SNRNP200_000087"	"g.96968890C>T"	""	""	""	"SNRNP200(NM_014014.4):c.381+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96303152C>T"	""	"likely benign"	""
"0000608160"	"0"	"30"	"2"	"96970562"	"96970562"	"subst"	"0.00109643"	"01943"	"SNRNP200_000088"	"g.96970562C>G"	""	""	""	"SNRNP200(NM_014014.4):c.90G>C (p.R30=), SNRNP200(NM_014014.5):c.90G>C (p.R30=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96304824C>G"	""	"likely benign"	""
"0000621131"	"0"	"50"	"2"	"96949328"	"96949328"	"subst"	"1.62565E-5"	"01943"	"SNRNP200_000083"	"g.96949328G>A"	""	""	""	"SNRNP200(NM_014014.4):c.4708C>T (p.R1570C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96283590G>A"	""	"VUS"	""
"0000621132"	"0"	"30"	"2"	"96950905"	"96950905"	"subst"	"1.22594E-5"	"02330"	"SNRNP200_000085"	"g.96950905C>T"	""	""	""	"SNRNP200(NM_014014.5):c.4164+13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96285167C>T"	""	"likely benign"	""
"0000654742"	"0"	"50"	"2"	"96959217"	"96959217"	"subst"	"0"	"02327"	"SNRNP200_000089"	"g.96959217C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.96293479C>T"	""	"VUS"	""
"0000676745"	"0"	"30"	"2"	"96949097"	"96949097"	"subst"	"4.47777E-5"	"01943"	"SNRNP200_000090"	"g.96949097G>A"	""	""	""	"SNRNP200(NM_014014.4):c.4764-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676746"	"0"	"30"	"2"	"96950332"	"96950332"	"subst"	"9.35598E-5"	"01943"	"SNRNP200_000091"	"g.96950332C>T"	""	""	""	"SNRNP200(NM_014014.4):c.4165-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000685481"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00004"	"SNRNP200_000009"	"g.96958828C>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000688876"	"0"	"50"	"2"	"96968944"	"96968944"	"subst"	"0"	"01943"	"SNRNP200_000092"	"g.96968944T>G"	""	""	""	"SNRNP200(NM_014014.4):c.334A>C (p.T112P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000710328"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00006"	"SNRNP200_000036"	"g.96953706G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000713351"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Carss 2017:28041643}"	""	"2:96953706G>A ENST00000323853.5:c.3260C>T (Ser1087Leu)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000713982"	"1"	"70"	"2"	"96954409"	"96954409"	"subst"	"4.06759E-6"	"00000"	"SNRNP200_000094"	"g.96954409C>A"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96288671C>A"	""	"likely pathogenic (dominant)"	""
"0000713998"	"1"	"50"	"2"	"96945245"	"96945245"	"subst"	"1.21919E-5"	"00000"	"SNRNP200_000093"	"g.96945245G>A"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	"rs375062852"	"0"	""	""	"g.96279507G>A"	""	"VUS"	""
"0000719093"	"0"	"50"	"2"	"96962320"	"96962320"	"subst"	"0"	"02327"	"SNRNP200_000095"	"g.96962320G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000731128"	"3"	"90"	"2"	"96953697"	"96953697"	"subst"	"1.21831E-5"	"00000"	"SNRNP200_000096"	"g.96953697C>T"	""	"{PMID:Astuti 2018:29320387}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287959C>T"	""	"pathogenic (recessive)"	""
"0000732436"	"1"	"90"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96291454C>T"	""	"pathogenic"	""
"0000732849"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000733094"	"3"	"70"	"2"	"96954816"	"96954816"	"subst"	"8.19343E-6"	"00000"	"SNRNP200_000099"	"g.96954816G>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96289078G>T"	""	"likely pathogenic"	""
"0000734363"	"0"	"70"	"2"	"96953207"	"96953207"	"subst"	"0"	"00000"	"SNRNP200_000098"	"g.96953207G>A"	""	"{PMID:Huang 2017:28512305}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.96287469G>A"	""	"likely pathogenic"	""
"0000734364"	"0"	"70"	"2"	"96942886"	"96942886"	"subst"	"8.12334E-6"	"00000"	"SNRNP200_000097"	"g.96942886G>A"	""	"{PMID:Huang 2017:28512305}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.96277148G>A"	""	"likely pathogenic"	""
"0000736328"	"1"	"70"	"2"	"96959109"	"96959109"	"subst"	"0"	"00000"	"SNRNP200_000101"	"g.96959109C>A"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.96293371C>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000736329"	"1"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000736330"	"1"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Van Cauwenbergh 2017:28076437}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293090C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000736500"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000736507"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000736508"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000736509"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000736510"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000736511"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000736512"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ezquerra-Inchausti 2017:28045043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000760234"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000760253"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000760303"	"0"	"50"	"2"	"96959219"	"96959219"	"subst"	"0"	"00000"	"SNRNP200_000103"	"g.96959219C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293481C>T"	""	"VUS"	""
"0000760306"	"0"	"50"	"2"	"96955598"	"96955598"	"subst"	"4.87456E-5"	"00000"	"SNRNP200_000102"	"g.96955598G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96289860G>A"	""	"VUS"	""
"0000760325"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000763879"	"1"	"70"	"2"	"96959053"	"96959053"	"subst"	"0"	"00006"	"SNRNP200_000104"	"g.96959053C>T"	""	"{PMID:Huang 2016:26992781}"	""	"2036+1C>A"	""	"Germline"	""	""	"0"	""	""	"g.96293315C>T"	""	"likely pathogenic (dominant)"	""
"0000765518"	"1"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	"1/60 cases"	"{PMID:Coussa 2015:26720483}"	""	"2041G>T"	"not in 192 controls"	"Germline"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic (dominant)"	""
"0000765519"	"1"	"90"	"2"	"96958748"	"96958748"	"subst"	"0.000142137"	"00000"	"SNRNP200_000030"	"g.96958748C>T"	"1/60 cases"	"{PMID:Coussa 2015:26720483}"	""	""	"not in 192 controls"	"Germline"	""	""	"0"	""	""	"g.96293010C>T"	""	"pathogenic (dominant)"	""
"0000765520"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	"2/60 cases"	"{PMID:Coussa 2015:26720483}"	""	""	"not in 192 controls"	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000765521"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	"2/60 cases"	"{PMID:Coussa 2015:26720483}"	""	""	"not in 192 controls"	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000765811"	"0"	"70"	"2"	"96940853"	"96940853"	"subst"	"4.06243E-6"	"00000"	"SNRNP200_000105"	"g.96940853T>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96275115T>C"	""	"likely pathogenic"	""
"0000765850"	"0"	"70"	"2"	"96956213"	"96956213"	"subst"	"0"	"00000"	"SNRNP200_000050"	"g.96956213C>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96290475C>T"	""	"likely pathogenic"	""
"0000784177"	"0"	"90"	"2"	"96959053"	"96959053"	"subst"	"0"	"00000"	"SNRNP200_000109"	"g.96959053C>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.96293315C>A"	""	"pathogenic (dominant)"	""
"0000784178"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic (dominant)"	""
"0000784179"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic (dominant)"	""
"0000784180"	"0"	"90"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.96291454C>T"	""	"pathogenic (dominant)"	""
"0000784294"	"0"	"50"	"2"	"96955533"	"96955533"	"subst"	"8.94549E-5"	"00000"	"SNRNP200_000029"	"g.96955533G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96289795G>A"	""	"VUS"	""
"0000784456"	"0"	"50"	"2"	"96964702"	"96964702"	"subst"	"8.13068E-6"	"00000"	"SNRNP200_000111"	"g.96964702C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96298964C>T"	""	"VUS"	""
"0000784520"	"0"	"50"	"2"	"96947666"	"96947666"	"subst"	"4.47191E-5"	"00000"	"SNRNP200_000107"	"g.96947666C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96281928C>T"	""	"VUS"	""
"0000784564"	"0"	"50"	"2"	"96944636"	"96944636"	"subst"	"3.65453E-5"	"00000"	"SNRNP200_000106"	"g.96944636A>G"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96278898A>G"	""	"VUS"	""
"0000785541"	"0"	"50"	"2"	"96962318"	"96962318"	"subst"	"0"	"00000"	"SNRNP200_000110"	"g.96962318G>A"	""	"{PMID:Fernandez-San Jose 2015:25698705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96296580G>A"	""	"VUS"	""
"0000785542"	"0"	"50"	"2"	"96956227"	"96956227"	"subst"	"0"	"00000"	"SNRNP200_000108"	"g.96956227T>C"	""	"{PMID:Fernandez-San Jose 2015:25698705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96290489T>C"	""	"VUS"	""
"0000786360"	"1"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Zhao 2015:25472526}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293090C>T"	""	"pathogenic"	""
"0000786452"	"1"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic (dominant)"	""
"0000787624"	"1"	"70"	"2"	"96962331"	"96962331"	"subst"	"0"	"00000"	"SNRNP200_000113"	"g.96962331A>C"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.96296593A>C"	""	"likely pathogenic"	""
"0000787658"	"1"	"70"	"2"	"96962314"	"96962314"	"subst"	"0"	"00000"	"SNRNP200_000112"	"g.96962314A>G"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.96296576A>G"	""	"likely pathogenic"	""
"0000788094"	"1"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293090C>T"	""	"pathogenic"	""
"0000788095"	"1"	"90"	"2"	"96958823"	"96958823"	"subst"	"0"	"00000"	"SNRNP200_000114"	"g.96958823C>A"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293085C>A"	""	"pathogenic"	""
"0000788149"	"1"	"70"	"2"	"96959219"	"96959219"	"subst"	"0"	"00000"	"SNRNP200_000103"	"g.96959219C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293481C>T"	""	"likely pathogenic"	""
"0000788356"	"0"	"50"	"2"	"96949315"	"96949315"	"subst"	"4.469E-5"	"00000"	"SNRNP200_000043"	"g.96949315A>G"	""	"{PMID:Katagiri 2014:25268133}"	""	"T4721C"	""	"Germline"	""	"rs199736893"	"0"	""	""	"g.96283577A>G"	""	"VUS"	""
"0000788539"	"1"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Pan 2014:24940031}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000788540"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Pan 2014:24940031}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000790433"	"0"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96291454C>T"	""	"likely pathogenic"	""
"0000790606"	"0"	"50"	"2"	"96952434"	"96952434"	"subst"	"2.03212E-5"	"00000"	"SNRNP200_000117"	"g.96952434C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96286696C>T"	""	"VUS"	""
"0000790613"	"0"	"50"	"2"	"96950283"	"96950283"	"subst"	"0.000560543"	"00000"	"SNRNP200_000116"	"g.96950283T>C"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.96284545T>C"	""	"VUS"	""
"0000790627"	"0"	"50"	"2"	"96955677"	"96955677"	"subst"	"0.00259564"	"00000"	"SNRNP200_000072"	"g.96955677T>C"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs149616320"	"0"	""	""	"g.96289939T>C"	""	"VUS"	""
"0000790638"	"0"	"50"	"2"	"96944276"	"96944276"	"subst"	"0.000126647"	"00000"	"SNRNP200_000115"	"g.96944276G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs200122357"	"0"	""	""	"g.96278538G>A"	""	"VUS"	""
"0000790682"	"1"	"30"	"2"	"96962320"	"96962320"	"subst"	"0"	"00000"	"SNRNP200_000095"	"g.96962320G>A"	""	"{PMID:Daiger 2014:24664689}"	""	"Ala542Val"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790690"	"1"	"90"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Daiger 2014:24664689}"	""	"Arg681Lys"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000791532"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000791533"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000791534"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000791535"	"0"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.96291454C>T"	""	"likely pathogenic"	""
"0000791536"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000791537"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000793784"	"0"	"70"	"2"	"96954409"	"96954409"	"subst"	"4.06759E-6"	"00000"	"SNRNP200_000094"	"g.96954409C>A"	""	"{PMID:Zhou-2011:21677794}"	""	"c.3250G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793803"	"0"	"70"	"2"	"96945245"	"96945245"	"subst"	"1.21919E-5"	"00000"	"SNRNP200_000093"	"g.96945245G>A"	""	"{PMID:Zhou-2011:21677794}"	""	"c.5077C>T"	""	"Unknown"	""	"rs375062852"	"0"	""	""	""	""	"likely pathogenic"	""
"0000794196"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"03508"	"SNRNP200_000053"	"g.96958828C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794395"	"0"	"90"	"2"	"96955119"	"96955119"	"subst"	"0"	"00000"	"SNRNP200_000118"	"g.96955119T>C"	""	"{PMID:Wang 2018:30029497}"	""	"NM_014014.4:c.2941-2A>G, NP_054733.2:p.?, NC_000002.11:g.96955119T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.96289381T>C"	""	"pathogenic"	"ACMG"
"0000795718"	"3"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Wu 2018:30360737}"	""	"c.3260G>A, (p.Ser1087Leu)"	"only abstract available; erroneously reported, the true p.(Ser1087Leu) is caused by c.3260C>T"	"Unknown"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000795719"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Wu 2018:30360737}"	""	"c.3260G>A, (p.Ser1087Leu)"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000795720"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Wu 2018:30360737}"	""	"c.2042G>A, (p.Arg681His)"	"only abstract available"	"Unknown"	"?"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000796281"	"0"	"90"	"2"	"96954816"	"96954816"	"subst"	"8.19343E-6"	"00000"	"SNRNP200_000099"	"g.96954816G>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.3133C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796843"	"0"	"70"	"2"	"96962318"	"96962318"	"subst"	"0"	"00000"	"SNRNP200_000110"	"g.96962318G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1627C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796883"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Wang-2014:24154662}"	""	"c.2041C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797019"	"0"	"50"	"2"	"96955719"	"96955719"	"subst"	"4.06468E-6"	"00000"	"SNRNP200_000119"	"g.96955719G>T"	""	"{PMID:Wang-2014:24154662}"	""	"c.2758C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000797116"	"0"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Birtel 2018:30543658}"	""	"c.2042G>A, p.Arg681His"	"Heterozygous"	"Germline"	"?"	"rs527236113"	"0"	""	""	"g.96293090C>T"	""	"pathogenic"	"ACMG"
"0000797117"	"0"	"70"	"2"	"96962398"	"96962398"	"subst"	"0"	"00000"	"SNRNP200_000120"	"g.96962398C>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.1547G>T, p.Cys516Phe"	"Heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.96296660C>A"	""	"likely pathogenic"	"ACMG"
"0000797118"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.2041C>T, p.Arg681Cys"	"Heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000797839"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	"ACMG"
"0000798086"	"0"	"50"	"2"	"96969073"	"96969073"	"subst"	"4.06091E-6"	"00000"	"SNRNP200_000121"	"g.96969073T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"SNRNP200 c.210-5A>G, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.96303335T>C"	""	"VUS"	"ACMG"
"0000800852"	"0"	"30"	"2"	"96944340"	"96944340"	"subst"	"0.000125985"	"01943"	"CIAO1_000011"	"g.96944340C>T"	""	""	""	"SNRNP200(NM_014014.4):c.5433G>A (p.A1811=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800853"	"0"	"30"	"2"	"96950142"	"96950142"	"subst"	"5.68505E-5"	"01943"	"SNRNP200_000122"	"g.96950142T>C"	""	""	""	"SNRNP200(NM_014014.4):c.4346A>G (p.N1449S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800854"	"0"	"50"	"2"	"96950277"	"96950277"	"subst"	"0"	"01943"	"SNRNP200_000123"	"g.96950277T>C"	""	""	""	"SNRNP200(NM_014014.4):c.4211A>G (p.K1404R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800855"	"0"	"30"	"2"	"96953651"	"96953651"	"subst"	"0.00161616"	"02330"	"SNRNP200_000068"	"g.96953651T>C"	""	""	""	"SNRNP200(NM_014014.4):c.3315A>G (p.A1105=), SNRNP200(NM_014014.5):c.3315A>G (p.A1105=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800856"	"0"	"50"	"2"	"96954996"	"96954996"	"subst"	"0"	"02330"	"SNRNP200_000124"	"g.96954996G>A"	""	""	""	"SNRNP200(NM_014014.5):c.3062C>T (p.S1021F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800857"	"0"	"50"	"2"	"96959180"	"96959180"	"subst"	"8.12275E-6"	"01943"	"SNRNP200_000125"	"g.96959180C>T"	""	""	""	"SNRNP200(NM_014014.4):c.1910G>A (p.R637Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800858"	"0"	"30"	"2"	"96970562"	"96970562"	"subst"	"0.00109643"	"02330"	"SNRNP200_000088"	"g.96970562C>G"	""	""	""	"SNRNP200(NM_014014.4):c.90G>C (p.R30=), SNRNP200(NM_014014.5):c.90G>C (p.R30=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000812601"	"0"	"70"	"2"	"96952217"	"96952217"	"subst"	"1.22006E-5"	"00000"	"SNRNP200_000126"	"g.96952217C>T"	""	"{PMID:Wang 2019:31106028}"	""	"c.3835C>T, p.(Glu1279Lys)"	"error in annotation: c.3835C>T instead of G>A, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.96286479C>T"	""	"likely pathogenic"	""
"0000812748"	"0"	"70"	"2"	"96955640"	"96955640"	"subst"	"0"	"00000"	"SNRNP200_000127"	"g.96955640T>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.2837T>A, p.(Asp946Val)"	"error in annotation: c.2837T>A instead of A>T, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.96289902T>A"	""	"likely pathogenic"	""
"0000813690"	"1"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Xu 2020:31630094}"	""	"SNRNP200 NM_014014: g.14106G>A, c.2359G>A, p.A787T"	""	"Germline"	"yes"	""	"0"	""	""	"g.96291454C>T"	""	"likely pathogenic"	"ACMG"
"0000814609"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000009"	"g.96958828C>A"	""	"{PMID:de Castro-Miró-2014:24516651}"	""	"c.2042G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000815416"	"0"	"50"	"2"	"96952811"	"96952811"	"subst"	"0"	"00000"	"NHLRC1_000001"	"g.96952811T>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"SNRNP200:NM_014014 c.A3572T, p.Q1191L"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.96287073T>A"	""	"VUS"	"ACMG"
"0000815632"	"0"	"50"	"2"	"96950253"	"96950253"	"subst"	"0"	"00000"	"SNRNP200_000128"	"g.96950253G>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"SNRNP200:NM_014014 c.C4235G, p.T1412S"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.96284515G>C"	""	"VUS"	"ACMG"
"0000815996"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"SNRNP200 c.2042G>A, p.Arg681His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000816033"	"0"	"50"	"2"	"96962320"	"96962320"	"subst"	"0"	"00000"	"SNRNP200_000095"	"g.96962320G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"SNRNP200 c.1625C>T, p.Ala542Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96296582G>A"	""	"VUS"	""
"0000816042"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000816056"	"3"	"50"	"2"	"96961276"	"96961276"	"subst"	"3.26057E-5"	"00000"	"SNRNP200_000037"	"g.96961276G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"SNRNP200 c.1792C>T, p.Arg598Cys"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96295538G>A"	""	"VUS"	""
"0000816180"	"0"	"50"	"2"	"96962283"	"96962283"	"subst"	"0"	"00000"	"SNRNP200_000129"	"g.96962283G>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"SNRNP200 c.1662C>G, p.Ser554Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96296545G>C"	""	"VUS"	""
"0000816392"	"0"	"50"	"2"	"96961276"	"96961276"	"subst"	"3.26057E-5"	"00000"	"SNRNP200_000037"	"g.96961276G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1792C>T, p.Arg598Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96295538G>A"	""	"VUS"	""
"0000816555"	"21"	"70"	"2"	"17470"	"17470"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.17470G>A"	""	"{PMID:Liu 2020:32090030}"	""	"c.2042G>A, p.R681H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000816564"	"0"	"70"	"2"	"17470"	"17470"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.17470G>A"	""	"{PMID:Liu 2020:32090030}"	""	"c.2042G>A, p.R681H"	"heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000816715"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000816716"	"0"	"70"	"2"	"96949648"	"96949648"	"subst"	"1.83871E-5"	"00000"	"SNRNP200_000044"	"g.96949648T>C"	""	"{PMID:Jauregui 2020:32098976}"	""	"SNRNP200 c.4487A>G, p.N1496S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96283910T>C"	""	"likely pathogenic"	""
"0000816717"	"0"	"70"	"2"	"96950142"	"96950142"	"subst"	"5.68505E-5"	"00000"	"SNRNP200_000122"	"g.96950142T>C"	""	"{PMID:Jauregui 2020:32098976}"	""	"SNRNP200 c.4346A>G, p.N1449S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96284404T>C"	""	"likely pathogenic"	""
"0000819481"	"1"	"70"	"2"	"96962318"	"96962318"	"subst"	"0"	"00000"	"SNRNP200_000110"	"g.96962318G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.1627C>T/p.P543S"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96296580G>A"	""	"likely pathogenic"	""
"0000819519"	"1"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.2041C>T/p.R681C"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000819520"	"1"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.2041C>T/p.R681C"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000819521"	"1"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.2041C>T/p.R681C"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000819730"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000819731"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000819732"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820052"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820053"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820054"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820055"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820079"	"1"	"70"	"2"	"96943645"	"96943645"	"subst"	"4.06062E-6"	"00000"	"SNRNP200_000130"	"g.96943645T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.5654A>G/p.N1885S"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96277907T>C"	""	"likely pathogenic"	""
"0000820080"	"1"	"70"	"2"	"96943645"	"96943645"	"subst"	"4.06062E-6"	"00000"	"SNRNP200_000130"	"g.96943645T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.5654A>G/p.N1885S"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96277907T>C"	""	"likely pathogenic"	""
"0000820081"	"1"	"70"	"2"	"96943645"	"96943645"	"subst"	"4.06062E-6"	"00000"	"SNRNP200_000130"	"g.96943645T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.5654A>G/p.N1885S"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96277907T>C"	""	"likely pathogenic"	""
"0000820108"	"1"	"70"	"2"	"96962724"	"96962724"	"subst"	"0"	"00000"	"SNRNP200_000133"	"g.96962724G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.1462C>T/p.L488F"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96296986G>A"	""	"likely pathogenic"	""
"0000820158"	"1"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.2042G>A/p.R681H"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000820168"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820263"	"1"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.2359G>A/p.A787T"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96291454C>T"	""	"likely pathogenic"	""
"0000820363"	"1"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.2359G>A/p.A787T"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96291454C>T"	""	"likely pathogenic"	""
"0000820386"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820530"	"1"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3260C>T/p.S1087L"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000820575"	"1"	"70"	"2"	"96966783"	"96966783"	"subst"	"0"	"00000"	"SNRNP200_000134"	"g.96966783T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.583A>G/p.I195V"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96301045T>C"	""	"likely pathogenic"	""
"0000820583"	"1"	"70"	"2"	"96952193"	"96952193"	"subst"	"4.06474E-6"	"00000"	"SNRNP200_000131"	"g.96952193G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"SNRNP200, variant 1: c.3859C>T/p.R1287W"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96286455G>A"	""	"likely pathogenic"	""
"0000821394"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Turro 2020:32581362}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000822346"	"0"	"70"	"2"	"96962311"	"96962311"	"subst"	"0"	"00000"	"SNRNP200_000132"	"g.96962311C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.1634G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822347"	"0"	"70"	"2"	"96962311"	"96962311"	"subst"	"0"	"00000"	"SNRNP200_000132"	"g.96962311C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.1634G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000824093"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824094"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824095"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824096"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824097"	"11"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824098"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824099"	"10"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824102"	"11"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824104"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824119"	"0"	"90"	"2"	"96966771"	"96966774"	"del"	"0"	"00000"	"SNRNP200_000135"	"g.96966771_96966774del"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.594_597del, p.(Tyr199Valfs*2)"	""	"De novo"	"yes"	""	"0"	""	""	"g.96301033_96301036del"	""	"pathogenic"	"ACMG"
"0000824131"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824132"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824133"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824134"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824135"	"11"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824136"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824137"	"10"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824140"	"11"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824142"	"21"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.2041C>T, p.(Arg681Cys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824157"	"0"	"90"	"2"	"96966771"	"96966774"	"del"	"0"	"00000"	"SNRNP200_000135"	"g.96966771_96966774del"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"SNRNP200 c.594_597del, p.(Tyr199Valfs*2)"	""	"De novo"	"yes"	""	"0"	""	""	"g.96301033_96301036del"	""	"pathogenic"	"ACMG"
"0000824346"	"0"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.2042G>A, p.(R681H)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96293090C>T"	""	"pathogenic"	"ACMG"
"0000824358"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.2041C>T, p.(R681C)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824385"	"0"	"90"	"2"	"96956207"	"96956207"	"subst"	"0"	"00000"	"SNRNP200_000137"	"g.96956207C>T"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.2599G>A, p.(G867S)"	""	"Unknown"	"?"	""	"0"	""	""	"g.96290469C>T"	""	"pathogenic"	"ACMG"
"0000824392"	"0"	"90"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.2359G>A, p.(A787T)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96291454C>T"	""	"pathogenic"	"ACMG"
"0000824404"	"0"	"90"	"2"	"96962425"	"96962425"	"subst"	"0"	"00000"	"SNRNP200_000056"	"g.96962425G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.1520C>T, p.(A507V)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96296687G>A"	""	"pathogenic"	"ACMG"
"0000824413"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.3260C>T, p.(S1087L)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	"ACMG"
"0000824415"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.2041C>T, p.(R681C)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic"	"ACMG"
"0000824417"	"0"	"90"	"2"	"96959139"	"96959139"	"subst"	"0"	"00000"	"SNRNP200_000138"	"g.96959139G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"SNRNP200 c.1951C>T, p.(L651F)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.96293401G>A"	""	"pathogenic"	"ACMG"
"0000824664"	"0"	"50"	"2"	"96956153"	"96956153"	"subst"	"0"	"00000"	"SNRNP200_000136"	"g.96956153G>C"	""	"{PMID:Ma 2021:33691693}"	""	"SNRNP200 c.C2653G, p.Q885E"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96290415G>C"	""	"VUS"	"ACMG"
"0000824736"	"0"	"50"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Ma 2021:33691693}"	""	"SNRNP200 c.C2041T, p.R681C"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"VUS"	"ACMG"
"0000825820"	"0"	"70"	"2"	"96952096"	"96952096"	"subst"	"4.06091E-6"	"00000"	"SNRNP200_000139"	"g.96952096C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.3956G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000825855"	"0"	"70"	"2"	"96955119"	"96955119"	"subst"	"0"	"00000"	"SNRNP200_000118"	"g.96955119T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.2941-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826057"	"0"	"70"	"2"	"96955661"	"96955661"	"subst"	"0"	"00000"	"SNRNP200_000140"	"g.96955661G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.2816C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826211"	"0"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.2359G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000827187"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2041C>T"	""	"Germline"	""	"rs959069360"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827188"	"0"	"90"	"2"	"96958804"	"96958804"	"subst"	"0"	"00000"	"SNRNP200_000141"	"g.96958804T>C"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2066A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827189"	"0"	"90"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2042G>A"	""	"Germline"	""	"rs527236113"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827190"	"0"	"90"	"2"	"96963102"	"96963102"	"subst"	"0"	"00000"	"SNRNP200_000057"	"g.96963102T>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1376A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000828913"	"0"	"70"	"2"	"96953697"	"96953697"	"subst"	"1.21831E-5"	"00000"	"SNRNP200_000096"	"g.96953697C>T"	""	"{PMID:Chen 2021:43360855}"	""	"SNRNP200 c.[3269G>A];[3269=], V1: c.3269G>A, (p.Arg1090Gln)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96287959C>T"	""	"likely pathogenic"	"ACMG"
"0000828929"	"0"	"70"	"2"	"96955102"	"96955102"	"subst"	"0"	"00000"	"SNRNP200_000142"	"g.96955102G>A"	""	"{PMID:Chen 2021:43360855}"	""	"SNRNP200 c.[2956C>T];[2956=], V1: c.2956C>T, (p.Arg986Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.96289364G>A"	""	"likely pathogenic"	"ACMG"
"0000829933"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Numa-2020:33247286}"	""	"c.3260C>T:p.S1087L"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000829982"	"0"	"50"	"2"	"96956212"	"96956212"	"subst"	"0"	"00000"	"SNRNP200_000143"	"g.96956212C>T"	""	"{PMID:Numa-2020:33247286}"	""	"c.2594G>A:p.G865D"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000829987"	"0"	"50"	"2"	"96962413"	"96962413"	"subst"	"0"	"00000"	"SNRNP200_000144"	"g.96962413T>G"	""	"{PMID:Numa-2020:33247286}"	""	"c.1532A>C:p.N511T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000850071"	"0"	"50"	"2"	"96954466"	"96954466"	"subst"	"0"	"01943"	"SNRNP200_000147"	"g.96954466C>T"	""	""	""	"SNRNP200(NM_014014.4):c.3193G>A (p.A1065T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858725"	"0"	"30"	"2"	"96947614"	"96947614"	"subst"	"0"	"01943"	"SNRNP200_000145"	"g.96947614C>T"	""	""	""	"SNRNP200(NM_014014.4):c.4962G>A (p.M1654I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858726"	"0"	"10"	"2"	"96952032"	"96952032"	"subst"	"0.00110484"	"02330"	"SNRNP200_000146"	"g.96952032G>C"	""	""	""	"SNRNP200(NM_014014.5):c.4003+17C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000877480"	"10"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877481"	"11"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877482"	"11"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877483"	"11"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877484"	"21"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877485"	"10"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877486"	"21"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877487"	"21"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877488"	"11"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877489"	"21"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877490"	"21"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877491"	"11"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Li 2010:19710410}"	""	"ASCC3L1 c.3269G->T, R1090L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>A"	""	"likely pathogenic"	""
"0000877492"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877493"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877494"	"11"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877495"	"11"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877496"	"21"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877497"	"21"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877498"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877499"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877500"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877501"	"11"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877502"	"21"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877503"	"11"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Zhao 2009:19878916}"	""	"SNRNP200  c.3260C>T, p.S1087L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877513"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877514"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877515"	"11"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877516"	"11"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877517"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877518"	"0"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2041C>T, p.R681C"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877519"	"0"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2042G>A, p.R681H"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000877520"	"0"	"50"	"2"	"96958823"	"96958823"	"subst"	"0"	"00000"	"SNRNP200_000114"	"g.96958823C>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2047G>T, p.V683L"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96293085C>A"	""	"VUS"	""
"0000877521"	"21"	"70"	"2"	"96958804"	"96958804"	"subst"	"0"	"00000"	"SNRNP200_000141"	"g.96958804T>C"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2066A>G, p.Y689C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293066T>C"	""	"likely pathogenic"	""
"0000877522"	"10"	"70"	"2"	"96958804"	"96958804"	"subst"	"0"	"00000"	"SNRNP200_000141"	"g.96958804T>C"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2066A>G, p.Y689C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293066T>C"	""	"likely pathogenic"	""
"0000877523"	"21"	"70"	"2"	"96958804"	"96958804"	"subst"	"0"	"00000"	"SNRNP200_000141"	"g.96958804T>C"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.2066A>G, p.Y689C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293066T>C"	""	"likely pathogenic"	""
"0000877524"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.3260C>T, p.S1087L"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000877525"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.3260C>T, p.S1087L"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000877526"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.3260C>T, p.S1087L"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000877527"	"0"	"50"	"2"	"96953651"	"96953651"	"subst"	"0.00161616"	"00000"	"SNRNP200_000068"	"g.96953651T>C"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.3315A>G, p.A1105"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287913T>C"	""	"VUS"	""
"0000877528"	"0"	"50"	"2"	"96953651"	"96953651"	"subst"	"0.00161616"	"00000"	"SNRNP200_000068"	"g.96953651T>C"	""	"{PMID:Benaglio 2011:21618346}"	""	"SNRNP200 c.3315A>G, p.A1105"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287913T>C"	""	"VUS"	""
"0000877530"	"20"	"70"	"2"	"96956153"	"96956153"	"subst"	"0"	"00000"	"SNRNP200_000136"	"g.96956153G>C"	""	"{PMID:Liu 2012:23029027}"	""	"SNRNP200 c.2653C>G, p.(Q885E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96290415G>C"	""	"likely pathogenic"	""
"0000877531"	"10"	"70"	"2"	"96956153"	"96956153"	"subst"	"0"	"00000"	"SNRNP200_000136"	"g.96956153G>C"	""	"{PMID:Liu 2012:23029027}"	""	"SNRNP200 c.2653C>G, p.(Q885E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96290415G>C"	""	"likely pathogenic"	""
"0000877532"	"20"	"70"	"2"	"96956153"	"96956153"	"subst"	"0"	"00000"	"SNRNP200_000136"	"g.96956153G>C"	""	"{PMID:Liu 2012:23029027}"	""	"SNRNP200 c.2653C>G, p.(Q885E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96290415G>C"	""	"likely pathogenic"	""
"0000877533"	"21"	"70"	"2"	"96956153"	"96956153"	"subst"	"0"	"00000"	"SNRNP200_000136"	"g.96956153G>C"	""	"{PMID:Liu 2012:23029027}"	""	"SNRNP200 c.2653C>G, p.(Q885E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96290415G>C"	""	"likely pathogenic"	""
"0000877534"	"21"	"70"	"2"	"96956153"	"96956153"	"subst"	"0"	"00000"	"SNRNP200_000136"	"g.96956153G>C"	""	"{PMID:Liu 2012:23029027}"	""	"SNRNP200 c.2653C>G, p.(Q885E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96290415G>C"	""	"likely pathogenic"	""
"0000877535"	"0"	"70"	"2"	"96962682"	"96962682"	"subst"	"0"	"00000"	"SNRNP200_000150"	"g.96962682A>G"	"0/178 controls"	"{PMID:Zhang 2013:23887765}"	""	"SNRNP200 c.1504T>C, (p.C502R)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296944A>G"	""	"likely pathogenic"	""
"0000877536"	"0"	"50"	"2"	"96944437"	"96944437"	"subst"	"4.06091E-6"	"00000"	"SNRNP200_000148"	"g.96944437C>T"	"0/178 controls"	"{PMID:Zhang 2013:23887765}"	""	"SNRNP200 c.5356G>A, (p.R1779H)"	"error in annotation, p.R1779H is actually caused by c.5336G>A and not c.5356G>A; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96278699C>T"	""	"VUS"	""
"0000877537"	"0"	"90"	"2"	"96953697"	"96953697"	"subst"	"0"	"00000"	"SNRNP200_000149"	"g.96953697C>A"	""	"{PMID:Cvackova 2014:24302620}"	""	"SNRNP200 c.3269G->T, R1090L"	"mutants are similarly localized to nuclear speckles; properly incorporated into snRNPs; mutations change the efficiency of constitutive splicing but do not affect alternative splicing; affect cryptic splice-site selection of beta-globin reporter; cell line"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.96287959C>A"	""	"pathogenic"	""
"0000877538"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Cvackova 2014:24302620}"	""	"SNRNP200 c.3260C>T, p.S1087L"	"mutants are similarly localized to nuclear speckles; properly incorporated into snRNPs; mutations change the efficiency of constitutive splicing but do not affect alternative splicing; affect cryptic splice-site selection of beta-globin reporter; cell line experiment"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	""
"0000877540"	"11"	"70"	"2"	"96962320"	"96962320"	"subst"	"0"	"00000"	"SNRNP200_000095"	"g.96962320G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.1625C>T, p.Ala542Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296582G>A"	""	"likely pathogenic"	""
"0000877541"	"20"	"70"	"2"	"96962320"	"96962320"	"subst"	"0"	"00000"	"SNRNP200_000095"	"g.96962320G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.1625C>T, p.Ala542Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296582G>A"	""	"likely pathogenic"	""
"0000877542"	"20"	"70"	"2"	"96962320"	"96962320"	"subst"	"0"	"00000"	"SNRNP200_000095"	"g.96962320G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.1625C>T, p.Ala542Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296582G>A"	""	"likely pathogenic"	""
"0000877543"	"20"	"70"	"2"	"96958826"	"96958826"	"subst"	"0"	"00000"	"SNRNP200_000052"	"g.96958826G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2044C>T, p.Pro682Ser"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96293088G>A"	""	"likely pathogenic"	""
"0000877544"	"20"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2042G>A, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000877545"	"21"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2041C>T, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877546"	"21"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2041C>T, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877547"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2041C>T, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877548"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877549"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2041C>T, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877550"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2041C>T, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877551"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.2041C>T, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877552"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Bowne 2013:24319334}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877553"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Chen 2013:24499697}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877554"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Chen 2013:24499697}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877555"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Chen 2013:24499697}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877556"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Chen 2013:24499697}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877557"	"0"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Chen 2013:24499697}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877558"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"SNRNP200 c.3260C>T, p.(Ser1087Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877559"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"SNRNP200 c.3260C>T, p.(Ser1087Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877560"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"SNRNP200 c.3260C>T, p.(Ser1087Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877561"	"21"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"SNRNP200 c.3260C>T, p.(Ser1087Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877562"	"21"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"SNRNP200 c.3260C>T, p.(Ser1087Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877563"	"3"	"70"	"2"	"96962311"	"96962311"	"subst"	"0"	"00000"	"SNRNP200_000132"	"g.96962311C>T"	""	"{PMID:Gerth-Kahlert 2019:31260034}"	""	"SNRNP200 c.1634G>A, p.(Arg545His)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296573C>T"	""	"likely pathogenic"	""
"0000877565"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.2041C>T, p.Arg681Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877566"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.2041C>T, p.Arg681Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877567"	"10"	"70"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.2359G>A, p.Ala787Thr"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96291454C>T"	""	"likely pathogenic"	""
"0000877568"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.2041C>T, p.Arg681Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000877569"	"10"	"70"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.3260C>T, p.Ser1087Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"likely pathogenic"	""
"0000877570"	"10"	"70"	"2"	"96958828"	"96958828"	"subst"	"0"	"00000"	"SNRNP200_000053"	"g.96958828C>T"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.2042G>A, p.Arg681His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293090C>T"	""	"likely pathogenic"	""
"0000877571"	"10"	"70"	"2"	"96962398"	"96962398"	"subst"	"0"	"00000"	"SNRNP200_000120"	"g.96962398C>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.1547G>T, p.Cys516Phe"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296660C>A"	""	"likely pathogenic"	""
"0000877572"	"10"	"70"	"2"	"96962398"	"96962398"	"subst"	"0"	"00000"	"SNRNP200_000120"	"g.96962398C>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.1547G>T, p.Cys516Phe"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96296660C>A"	""	"likely pathogenic"	""
"0000877573"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Yusuf 2019:31486839}"	""	"SNRNP200 c.2041C>T, p.Arg681Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	""
"0000885436"	"0"	"30"	"2"	"96940822"	"96940822"	"subst"	"0"	"02330"	"CIAO1_000012"	"g.96940822G>A"	""	""	""	"SNRNP200(NM_014014.5):c.6339C>T (p.Y2113=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000885437"	"0"	"30"	"2"	"96940985"	"96940985"	"subst"	"0"	"02330"	"CIAO1_000013"	"g.96940985A>T"	""	""	""	"SNRNP200(NM_014014.5):c.6267+10T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000885438"	"0"	"50"	"2"	"96961276"	"96961276"	"subst"	"3.26057E-5"	"02330"	"SNRNP200_000037"	"g.96961276G>A"	""	""	""	"SNRNP200(NM_014014.5):c.1792C>T (p.R598C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000885439"	"0"	"30"	"2"	"96965091"	"96965091"	"subst"	"8.53069E-5"	"02330"	"SNRNP200_000153"	"g.96965091G>A"	""	""	""	"SNRNP200(NM_014014.5):c.705C>T (p.V235=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896494"	"1"	"70"	"2"	"96953697"	"96953697"	"subst"	"1.21831E-5"	"00000"	"SNRNP200_000096"	"g.96953697C>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119"	"{PMID:Chen 2021:33608557}"	""	"SNRNP200 c.[3269G>A];[3269=]; p.(Arg1090Gln)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287959C>T"	""	"likely pathogenic"	""
"0000896655"	"1"	"70"	"2"	"96955102"	"96955102"	"subst"	"0"	"00000"	"SNRNP200_000142"	"g.96955102G>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"SNRNP200 c.[2956C>T];[2956=]; p.(Arg986Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96289364G>A"	""	"likely pathogenic"	""
"0000897028"	"20"	"70"	"2"	"96961360"	"96961360"	"subst"	"0"	"00000"	"SNRNP200_000152"	"g.96961360T>C"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.1708A > G, p.(T570A)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96295622T>C"	""	"likely pathogenic"	"ACMG"
"0000897029"	"10"	"70"	"2"	"96961344"	"96961344"	"subst"	"0"	"00000"	"SNRNP200_000151"	"g.96961344A>C"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.1724 T > G, p.(L575R)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96295606A>C"	""	"likely pathogenic"	"ACMG"
"0000897030"	"10"	"70"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00000"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.2041C > T, p.(R681C)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96293091G>A"	""	"likely pathogenic"	"ACMG"
"0000897031"	"10"	"90"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.2359G > A, p.(A787T)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96291454C>T"	""	"pathogenic"	"ACMG"
"0000897032"	"0"	"90"	"2"	"96957192"	"96957192"	"subst"	"0"	"00000"	"SNRNP200_000100"	"g.96957192C>T"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.2359G > A, p.(A787T)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96291454C>T"	""	"pathogenic"	"ACMG"
"0000897033"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.3260C > T, p.(S1087L)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	"ACMG"
"0000897034"	"20"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.3260C > T, p.(S1087L)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	"ACMG"
"0000897035"	"10"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"00000"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Wang 2022:35138024}"	""	"SNRNP200 c.3260C > T, p.(S1087L)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.96287968G>A"	""	"pathogenic"	"ACMG"
"0000902088"	"20"	"70"	"2"	"96942823"	"96942823"	"subst"	"3.24921E-5"	"00000"	"SNRNP200_000154"	"g.96942823G>A"	""	"{PMID:Zhang 2021:33553197}"	""	"SNRNP200 c.C6088T, p.Arg2030Cys"	"heterozygous; zebrafish model injected with SNRNP200 c.C6088T mutant mRNA: high ratios of deformation and loss of photoreceptors; no mutation in the affected niece"	"Germline"	"yes"	""	"0"	""	""	"g.96277085G>A"	""	"likely pathogenic"	""
"0000902089"	"11"	"70"	"2"	"96942823"	"96942823"	"subst"	"3.24921E-5"	"00000"	"SNRNP200_000154"	"g.96942823G>A"	""	"{PMID:Zhang 2021:33553197}"	""	"SNRNP200 c.C6088T, p.Arg2030Cys"	"heterozygous; zebrafish model injected with SNRNP200c.C6088T mutant mRNA: high ratios of deformation and loss of photoreceptors; no mutation in the affected cousin"	"Germline"	"yes"	""	"0"	""	""	"g.96277085G>A"	""	"likely pathogenic"	""
"0000915804"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"04436"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2041C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915827"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"04436"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2041C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916241"	"0"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"04436"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2041C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916312"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"04436"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3260C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916314"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"04436"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3260C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916453"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"04436"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3260C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916650"	"0"	"90"	"2"	"96953706"	"96953706"	"subst"	"4.06154E-6"	"04436"	"SNRNP200_000036"	"g.96953706G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3260C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000923797"	"0"	"50"	"2"	"96951010"	"96951010"	"subst"	"0"	"02330"	"SNRNP200_000046"	"g.96951010T>C"	""	""	""	"SNRNP200(NM_014014.5):c.4072A>G (p.I1358V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923798"	"0"	"50"	"2"	"96954819"	"96954819"	"subst"	"9.81354E-5"	"02327"	"SNRNP200_000028"	"g.96954819C>A"	""	""	""	"SNRNP200(NM_014014.4):c.3130G>T (p.V1044L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928666"	"0"	"30"	"2"	"96944316"	"96944316"	"subst"	"2.84866E-5"	"02330"	"CIAO1_000015"	"g.96944316G>A"	""	""	""	"SNRNP200(NM_014014.5):c.5457C>T (p.A1819=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000933404"	"0"	"90"	"2"	"96956226"	"96956226"	"subst"	"0"	"04552"	"SNRNP200_000155"	"g.96956226C>G"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV:13170}"	"pathogenic"	"ACMG"
"0000947980"	"0"	"30"	"2"	"96947669"	"96947669"	"subst"	"0"	"02330"	"SNRNP200_000156"	"g.96947669T>C"	""	""	""	"SNRNP200(NM_014014.5):c.4916-9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947981"	"0"	"30"	"2"	"96962702"	"96962702"	"subst"	"0.000109661"	"02330"	"SNRNP200_000157"	"g.96962702G>A"	""	""	""	"SNRNP200(NM_014014.5):c.1484C>T (p.T495M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000957988"	"1"	"90"	"2"	"96958829"	"96958829"	"subst"	"4.06194E-6"	"00006"	"SNRNP200_000008"	"g.96958829G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.96293091G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000958832"	"1"	"50"	"2"	"96950317"	"96950317"	"subst"	"4.06402E-6"	"00006"	"SNRNP200_000158"	"g.96950317T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2, BP4"	"Germline"	""	""	"0"	""	""	"g.96284579T>C"	""	"VUS"	"ACMG"
"0000958846"	"0"	"50"	"2"	"96964059"	"96964059"	"subst"	"4.06068E-6"	"00006"	"SNRNP200_000159"	"g.96964059T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2"	"Germline"	""	""	"0"	""	""	"g.96298321T>C"	""	"VUS"	"ACMG"
"0000959055"	"0"	"50"	"2"	"96954819"	"96954819"	"subst"	"9.81354E-5"	"00006"	"SNRNP200_000028"	"g.96954819C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2; no variant 2nd chromosome"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.96289081C>A"	""	"VUS"	"ACMG"
"0000962324"	"0"	"50"	"2"	"96961364"	"96961364"	"subst"	"0"	"02327"	"SNRNP200_000160"	"g.96961364T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975463"	"0"	"50"	"2"	"96947633"	"96947633"	"subst"	"0.00011373"	"01804"	"SNRNP200_000161"	"g.96947633C>T"	""	""	""	"SNRNP200(NM_014014.5):c.4943G>A (p.(Arg1648Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975464"	"0"	"50"	"2"	"96953705"	"96953705"	"subst"	"8.12203E-6"	"01804"	"SNRNP200_000162"	"g.96953705C>T"	""	""	""	"SNRNP200(NM_014014.5):c.3261G>A (p.(Ser1087=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993089"	"0"	"50"	"2"	"96959129"	"96959129"	"subst"	"0"	"02330"	"SNRNP200_000163"	"g.96959129G>T"	""	""	""	"SNRNP200(NM_014014.5):c.1961C>A (p.T654N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013788"	"0"	"30"	"2"	"96940792"	"96940792"	"subst"	"0.000134"	"02330"	"CIAO1_000018"	"g.96940792G>A"	""	""	""	"SNRNP200(NM_014014.5):c.6369C>T (p.S2123=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001013789"	"0"	"50"	"2"	"96940814"	"96940814"	"subst"	"0"	"02327"	"CIAO1_000019"	"g.96940814C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013790"	"0"	"30"	"2"	"96942729"	"96942729"	"subst"	"0.000118315"	"02330"	"CIAO1_000020"	"g.96942729G>A"	""	""	""	"SNRNP200(NM_014014.5):c.6093-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001013791"	"0"	"50"	"2"	"96949330"	"96949330"	"subst"	"0"	"02327"	"SNRNP200_000164"	"g.96949330G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013792"	"0"	"70"	"2"	"96956122"	"96956122"	"subst"	"0"	"02327"	"SNRNP200_000165"	"g.96956122G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001024690"	"0"	"30"	"2"	"96949456"	"96949456"	"subst"	"1.62547E-5"	"02325"	"SNRNP200_000166"	"g.96949456C>T"	""	""	""	"SNRNP200(NM_014014.5):c.4585-5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024691"	"0"	"70"	"2"	"96953697"	"96953697"	"subst"	"0"	"01943"	"SNRNP200_000149"	"g.96953697C>A"	""	""	""	"SNRNP200(NM_014014.4):c.3269G>T (p.R1090L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes SNRNP200
## Count = 423
"{{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}}"
"0000001164"	"00019945"	"50"	"3572"	"0"	"3572"	"0"	"c.3572A>T"	"r.(?)"	"p.(Gln1191Leu)"	""
"0000019495"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000060520"	"00019945"	"30"	"1159"	"0"	"1159"	"0"	"c.1159A>G"	"r.(?)"	"p.(Met387Val)"	"10"
"0000060521"	"00019945"	"70"	"3005"	"0"	"3005"	"0"	"c.3005A>G"	"r.(?)"	"p.(Asn1002Ser)"	"22"
"0000060522"	"00019945"	"50"	"4165"	"0"	"4165"	"0"	"c.4165G>A"	"r.(spl?)"	"p.(Val1389Ile)"	"31"
"0000060523"	"00019945"	"50"	"4165"	"0"	"4165"	"0"	"c.4165G>A"	"r.(spl?)"	"p.(Val1389Ile)"	"31"
"0000060524"	"00019945"	"10"	"5134"	"-20"	"5134"	"-20"	"c.5134-20T>C"	"r.(spl?)"	"p.(?)"	"36i"
"0000060525"	"00019945"	"10"	"5134"	"-20"	"5134"	"-20"	"c.5134-20T>C"	"r.(spl?)"	"p.(?)"	"36i"
"0000060526"	"00019945"	"10"	"575"	"-7"	"575"	"-7"	"c.575-7G>T"	"r.(spl?)"	"p.(?)"	"4i"
"0000060527"	"00019945"	"70"	"6340"	"0"	"6340"	"0"	"c.6340A>G"	"r.(?)"	"p.(Met2114Val)"	"45"
"0000060528"	"00019945"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	"31i"
"0000060529"	"00019945"	"90"	"2042"	"0"	"2042"	"0"	"c.2042G>T"	"r.(?)"	"p.(Arg681Leu)"	"16"
"0000245951"	"00019945"	"10"	"6268"	"-5"	"6268"	"-5"	"c.6268-5del"	"r.spl?"	"p.?"	""
"0000248521"	"00019945"	"10"	"3550"	"0"	"3550"	"0"	"c.3550T>C"	"r.(?)"	"p.(Leu1184=)"	""
"0000296063"	"00019945"	"10"	"1159"	"0"	"1159"	"0"	"c.1159A>G"	"r.(?)"	"p.(Met387Val)"	""
"0000296064"	"00019945"	"50"	"1367"	"0"	"1367"	"0"	"c.1367G>C"	"r.(?)"	"p.(Gly456Ala)"	""
"0000296065"	"00019945"	"10"	"3005"	"0"	"3005"	"0"	"c.3005A>G"	"r.(?)"	"p.(Asn1002Ser)"	""
"0000296066"	"00019945"	"10"	"3609"	"0"	"3609"	"0"	"c.3609C>T"	"r.(?)"	"p.(Thr1203=)"	""
"0000296067"	"00019945"	"10"	"3876"	"0"	"3876"	"0"	"c.3876G>A"	"r.(?)"	"p.(Pro1292=)"	""
"0000296068"	"00019945"	"10"	"3897"	"0"	"3897"	"0"	"c.3897C>G"	"r.(?)"	"p.(Thr1299=)"	""
"0000296069"	"00019945"	"50"	"4013"	"0"	"4013"	"0"	"c.4013C>T"	"r.(?)"	"p.(Thr1338Ile)"	""
"0000296070"	"00019945"	"10"	"4165"	"0"	"4165"	"0"	"c.4165G>A"	"r.(?)"	"p.(Val1389Ile)"	""
"0000296071"	"00019945"	"10"	"4353"	"0"	"4353"	"0"	"c.4353C>T"	"r.(?)"	"p.(Phe1451=)"	""
"0000296072"	"00019945"	"50"	"4555"	"0"	"4555"	"0"	"c.4555C>T"	"r.(?)"	"p.(Arg1519Cys)"	""
"0000296073"	"00019945"	"10"	"4584"	"18"	"4584"	"18"	"c.4584+18C>T"	"r.(=)"	"p.(=)"	""
"0000296074"	"00019945"	"10"	"5091"	"0"	"5091"	"0"	"c.5091C>T"	"r.(?)"	"p.(Asp1697=)"	""
"0000296075"	"00019945"	"10"	"51"	"0"	"51"	"0"	"c.51G>T"	"r.(?)"	"p.(Ser17=)"	""
"0000296076"	"00019945"	"10"	"5418"	"0"	"5418"	"0"	"c.5418C>T"	"r.(?)"	"p.(Asp1806=)"	""
"0000296077"	"00019945"	"10"	"5520"	"0"	"5520"	"0"	"c.5520C>G"	"r.(?)"	"p.(Thr1840=)"	""
"0000296078"	"00019945"	"10"	"5538"	"0"	"5538"	"0"	"c.5538C>T"	"r.(?)"	"p.(Ile1846=)"	""
"0000296079"	"00019945"	"30"	"5664"	"0"	"5664"	"0"	"c.5664C>T"	"r.(?)"	"p.(His1888=)"	""
"0000296080"	"00019945"	"10"	"5766"	"0"	"5766"	"0"	"c.5766C>T"	"r.(?)"	"p.(Leu1922=)"	""
"0000296081"	"00019945"	"10"	"732"	"0"	"732"	"0"	"c.732C>T"	"r.(?)"	"p.(Leu244=)"	""
"0000298429"	"00019945"	"10"	"5755"	"-20"	"5755"	"-20"	"c.5755-20A>G"	"r.(=)"	"p.(=)"	""
"0000308670"	"00019945"	"30"	"1071"	"0"	"1071"	"0"	"c.1071C>T"	"r.(?)"	"p.(Ser357=)"	""
"0000308671"	"00019945"	"30"	"1159"	"0"	"1159"	"0"	"c.1159A>G"	"r.(?)"	"p.(Met387Val)"	""
"0000308672"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000308673"	"00019945"	"50"	"2122"	"0"	"2122"	"0"	"c.2122G>A"	"r.(?)"	"p.(Val708Ile)"	""
"0000308674"	"00019945"	"30"	"2940"	"4"	"2940"	"4"	"c.2940+4C>T"	"r.spl?"	"p.?"	""
"0000308675"	"00019945"	"50"	"3130"	"0"	"3130"	"0"	"c.3130G>T"	"r.(?)"	"p.(Val1044Leu)"	""
"0000308676"	"00019945"	"30"	"3897"	"0"	"3897"	"0"	"c.3897C>G"	"r.(?)"	"p.(Thr1299=)"	""
"0000308677"	"00019945"	"30"	"4035"	"0"	"4035"	"0"	"c.4035C>T"	"r.(?)"	"p.(Asn1345=)"	""
"0000308678"	"00019945"	"30"	"4080"	"0"	"4080"	"0"	"c.4080A>T"	"r.(?)"	"p.(Ala1360=)"	""
"0000308679"	"00019945"	"30"	"4165"	"0"	"4165"	"0"	"c.4165G>A"	"r.(?)"	"p.(Val1389Ile)"	""
"0000308680"	"00019945"	"50"	"4678"	"0"	"4678"	"0"	"c.4678A>G"	"r.(?)"	"p.(Ile1560Val)"	""
"0000338955"	"00019945"	"10"	"5755"	"-20"	"5755"	"-20"	"c.5755-20A>G"	"r.(=)"	"p.(=)"	""
"0000343154"	"00019945"	"50"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598Cys)"	""
"0000348253"	"00019945"	"30"	"5644"	"0"	"5644"	"0"	"c.5644C>A"	"r.(?)"	"p.(Pro1882Thr)"	""
"0000348651"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000476111"	"00019945"	"50"	"5933"	"0"	"5933"	"0"	"c.5933G>T"	"r.(?)"	"p.(Gly1978Val)"	""
"0000476112"	"00019945"	"50"	"5288"	"0"	"5288"	"0"	"c.5288G>A"	"r.(?)"	"p.(Arg1763His)"	""
"0000476113"	"00019945"	"90"	"5100"	"0"	"5100"	"0"	"c.5100del"	"r.(?)"	"p.(Arg1701Alafs*24)"	""
"0000476114"	"00019945"	"50"	"4721"	"0"	"4721"	"0"	"c.4721T>C"	"r.(?)"	"p.(Ile1574Thr)"	""
"0000476115"	"00019945"	"50"	"4487"	"0"	"4487"	"0"	"c.4487A>G"	"r.(?)"	"p.(Asn1496Ser)"	""
"0000476116"	"00019945"	"50"	"4354"	"0"	"4354"	"0"	"c.4354G>A"	"r.(?)"	"p.(Val1452Met)"	""
"0000476117"	"00019945"	"50"	"4072"	"0"	"4072"	"0"	"c.4072A>G"	"r.(?)"	"p.(Ile1358Val)"	""
"0000476118"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000476119"	"00019945"	"50"	"2984"	"0"	"2984"	"0"	"c.2984A>G"	"r.(?)"	"p.(Asn995Ser)"	""
"0000476120"	"00019945"	"50"	"2800"	"0"	"2800"	"0"	"c.2800A>C"	"r.(?)"	"p.(Thr934Pro)"	""
"0000476121"	"00019945"	"50"	"2743"	"-3"	"2743"	"-3"	"c.2743-3T>C"	"r.spl?"	"p.?"	""
"0000476122"	"00019945"	"90"	"2593"	"0"	"2593"	"0"	"c.2593G>A"	"r.(?)"	"p.(Gly865Ser)"	""
"0000476123"	"00019945"	"50"	"2443"	"0"	"2443"	"0"	"c.2443C>G"	"r.(?)"	"p.(Leu815Val)"	""
"0000476124"	"00019945"	"90"	"2044"	"0"	"2044"	"0"	"c.2044C>T"	"r.(?)"	"p.(Pro682Ser)"	""
"0000476125"	"00019945"	"90"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	""
"0000476126"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000476127"	"00019945"	"50"	"1703"	"0"	"1703"	"0"	"c.1703A>G"	"r.(?)"	"p.(Glu568Gly)"	""
"0000476128"	"00019945"	"50"	"1673"	"0"	"1673"	"0"	"c.1673G>A"	"r.(?)"	"p.(Arg558His)"	""
"0000476129"	"00019945"	"50"	"1520"	"0"	"1520"	"0"	"c.1520C>T"	"r.(?)"	"p.(Ala507Val)"	""
"0000476130"	"00019945"	"50"	"1376"	"0"	"1376"	"0"	"c.1376A>T"	"r.(?)"	"p.(Glu459Val)"	""
"0000476131"	"00019945"	"50"	"1118"	"0"	"1118"	"0"	"c.1118G>A"	"r.(?)"	"p.(Arg373Gln)"	""
"0000476132"	"00019945"	"50"	"728"	"0"	"728"	"0"	"c.728A>G"	"r.(?)"	"p.(Asn243Ser)"	""
"0000517138"	"00019945"	"30"	"5933"	"0"	"5933"	"0"	"c.5933G>C"	"r.(?)"	"p.(Gly1978Ala)"	""
"0000517140"	"00019945"	"30"	"5766"	"0"	"5766"	"0"	"c.5766C>T"	"r.(?)"	"p.(Leu1922=)"	""
"0000517141"	"00019945"	"30"	"5664"	"0"	"5664"	"0"	"c.5664C>T"	"r.(?)"	"p.(His1888=)"	""
"0000517142"	"00019945"	"10"	"5592"	"0"	"5592"	"0"	"c.5592A>G"	"r.(?)"	"p.(Glu1864=)"	""
"0000517143"	"00019945"	"30"	"5538"	"0"	"5538"	"0"	"c.5538C>T"	"r.(?)"	"p.(Ile1846=)"	""
"0000517144"	"00019945"	"10"	"5489"	"-18"	"5489"	"-18"	"c.5489-18A>T"	"r.(=)"	"p.(=)"	""
"0000517145"	"00019945"	"10"	"5181"	"0"	"5181"	"0"	"c.5181C>T"	"r.(?)"	"p.(His1727=)"	""
"0000517146"	"00019945"	"30"	"5070"	"0"	"5070"	"0"	"c.5070C>T"	"r.(?)"	"p.(His1690=)"	""
"0000517147"	"00019945"	"50"	"4997"	"0"	"4997"	"0"	"c.4997C>G"	"r.(?)"	"p.(Thr1666Ser)"	""
"0000517148"	"00019945"	"50"	"4966"	"0"	"4966"	"0"	"c.4966G>A"	"r.(?)"	"p.(Val1656Met)"	""
"0000517149"	"00019945"	"10"	"4818"	"0"	"4818"	"0"	"c.4818C>T"	"r.(?)"	"p.(Asp1606=)"	""
"0000517150"	"00019945"	"50"	"4183"	"0"	"4183"	"0"	"c.4183G>A"	"r.(?)"	"p.(Glu1395Lys)"	""
"0000517151"	"00019945"	"50"	"3670"	"0"	"3670"	"0"	"c.3670C>A"	"r.(?)"	"p.(Leu1224Met)"	""
"0000517152"	"00019945"	"50"	"3614"	"0"	"3614"	"0"	"c.3614C>T"	"r.(?)"	"p.(Thr1205Met)"	""
"0000517153"	"00019945"	"50"	"3614"	"0"	"3614"	"0"	"c.3614C>T"	"r.(?)"	"p.(Thr1205Met)"	""
"0000517154"	"00019945"	"50"	"3326"	"0"	"3326"	"0"	"c.3326A>C"	"r.(?)"	"p.(Asp1109Ala)"	""
"0000517155"	"00019945"	"30"	"3315"	"0"	"3315"	"0"	"c.3315A>G"	"r.(?)"	"p.(Ala1105=)"	""
"0000517156"	"00019945"	"50"	"3074"	"0"	"3074"	"0"	"c.3074A>G"	"r.(?)"	"p.(Lys1025Arg)"	""
"0000517157"	"00019945"	"50"	"3047"	"0"	"3047"	"0"	"c.3047G>A"	"r.(?)"	"p.(Arg1016Lys)"	""
"0000517158"	"00019945"	"50"	"3005"	"0"	"3005"	"0"	"c.3005A>G"	"r.(?)"	"p.(Asn1002Ser)"	""
"0000517159"	"00019945"	"50"	"2951"	"0"	"2951"	"0"	"c.2951T>A"	"r.(?)"	"p.(Leu984Gln)"	""
"0000517160"	"00019945"	"10"	"2800"	"0"	"2800"	"0"	"c.2800A>G"	"r.(?)"	"p.(Thr934Ala)"	""
"0000517161"	"00019945"	"10"	"2800"	"0"	"2800"	"0"	"c.2800A>G"	"r.(?)"	"p.(Thr934Ala)"	""
"0000517162"	"00019945"	"10"	"2310"	"19"	"2310"	"19"	"c.2310+19G>A"	"r.(=)"	"p.(=)"	""
"0000517163"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000517164"	"00019945"	"30"	"2040"	"0"	"2040"	"0"	"c.2040C>T"	"r.(?)"	"p.(Phe680=)"	""
"0000517165"	"00019945"	"50"	"1763"	"0"	"1763"	"0"	"c.1763G>T"	"r.(?)"	"p.(Cys588Phe)"	""
"0000517166"	"00019945"	"10"	"1671"	"18"	"1671"	"18"	"c.1671+18T>C"	"r.(=)"	"p.(=)"	""
"0000517167"	"00019945"	"50"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Arg490His)"	""
"0000517168"	"00019945"	"10"	"1203"	"9"	"1203"	"9"	"c.1203+9C>T"	"r.(=)"	"p.(=)"	""
"0000517169"	"00019945"	"30"	"1203"	"9"	"1203"	"9"	"c.1203+9C>T"	"r.(=)"	"p.(=)"	""
"0000517170"	"00019945"	"30"	"578"	"0"	"578"	"0"	"c.578A>G"	"r.(?)"	"p.(Asp193Gly)"	""
"0000517171"	"00019945"	"30"	"578"	"0"	"578"	"0"	"c.578A>G"	"r.(?)"	"p.(Asp193Gly)"	""
"0000517172"	"00019945"	"30"	"461"	"0"	"461"	"0"	"c.461G>A"	"r.(?)"	"p.(Arg154Gln)"	""
"0000517173"	"00019945"	"30"	"273"	"0"	"273"	"0"	"c.273G>A"	"r.(?)"	"p.(Ser91=)"	""
"0000517174"	"00019945"	"10"	"210"	"-11"	"210"	"-11"	"c.210-11A>T"	"r.(=)"	"p.(=)"	""
"0000608156"	"00019945"	"30"	"5412"	"0"	"5412"	"0"	"c.5412C>T"	"r.(?)"	"p.(Ile1804=)"	""
"0000608157"	"00019945"	"50"	"4698"	"0"	"4698"	"0"	"c.4698C>T"	"r.(?)"	"p.(Arg1566=)"	""
"0000608158"	"00019945"	"30"	"3735"	"0"	"3735"	"0"	"c.3735C>T"	"r.(?)"	"p.(Tyr1245=)"	""
"0000608159"	"00019945"	"30"	"381"	"7"	"381"	"7"	"c.381+7G>A"	"r.(=)"	"p.(=)"	""
"0000608160"	"00019945"	"30"	"90"	"0"	"90"	"0"	"c.90G>C"	"r.(?)"	"p.(Arg30=)"	""
"0000621131"	"00019945"	"50"	"4708"	"0"	"4708"	"0"	"c.4708C>T"	"r.(?)"	"p.(Arg1570Cys)"	""
"0000621132"	"00019945"	"30"	"4164"	"13"	"4164"	"13"	"c.4164+13G>A"	"r.(=)"	"p.(=)"	""
"0000654742"	"00019945"	"50"	"1873"	"0"	"1873"	"0"	"c.1873G>A"	"r.(?)"	"p.(Gly625Ser)"	""
"0000676745"	"00019945"	"30"	"4764"	"-7"	"4764"	"-7"	"c.4764-7C>T"	"r.(=)"	"p.(=)"	""
"0000676746"	"00019945"	"30"	"4165"	"-9"	"4165"	"-9"	"c.4165-9G>A"	"r.(=)"	"p.(=)"	""
"0000685481"	"00019945"	"70"	"2042"	"0"	"2042"	"0"	"c.2042G>T"	"r.(?)"	"p.(Arg681Leu)"	""
"0000688876"	"00019945"	"50"	"334"	"0"	"334"	"0"	"c.334A>C"	"r.(?)"	"p.(Thr112Pro)"	""
"0000710328"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
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"0000760253"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
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"0000763879"	"00019945"	"70"	"2036"	"1"	"2036"	"1"	"c.2036+1G>A"	"r.spl"	"p.?"	""
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"0000785542"	"00019945"	"50"	"2579"	"0"	"2579"	"0"	"c.2579A>G"	"r.(?)"	"p.(Gln860Arg)"	""
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"0000790627"	"00019945"	"50"	"2800"	"0"	"2800"	"0"	"c.2800A>G"	"r.(?)"	"p.(Thr934Ala)"	""
"0000790638"	"00019945"	"50"	"5488"	"9"	"5488"	"9"	"c.5488+9C>T"	"r.spl?"	"p.?"	""
"0000790682"	"00019945"	"30"	"1625"	"0"	"1625"	"0"	"c.1625C>T"	"r.(?)"	"p.(Ala542Val)"	""
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"0000798086"	"00019945"	"50"	"210"	"-5"	"210"	"-5"	"c.210-5A>G"	"r.spl?"	"p.(?)"	""
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"0000800857"	"00019945"	"50"	"1910"	"0"	"1910"	"0"	"c.1910G>A"	"r.(?)"	"p.(Arg637Gln)"	""
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"0000820080"	"00019945"	"70"	"5654"	"0"	"5654"	"0"	"c.5654A>G"	"r.(?)"	"p.(Asn1885Ser)"	""
"0000820081"	"00019945"	"70"	"5654"	"0"	"5654"	"0"	"c.5654A>G"	"r.(?)"	"p.(Asn1885Ser)"	""
"0000820108"	"00019945"	"70"	"1462"	"0"	"1462"	"0"	"c.1462C>T"	"r.(?)"	"p.(Leu488Phe)"	""
"0000820158"	"00019945"	"70"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	""
"0000820168"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000820263"	"00019945"	"70"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	""
"0000820363"	"00019945"	"70"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	""
"0000820386"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
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"0000820575"	"00019945"	"70"	"583"	"0"	"583"	"0"	"c.583A>G"	"r.(?)"	"p.(Ile195Val)"	""
"0000820583"	"00019945"	"70"	"3859"	"0"	"3859"	"0"	"c.3859C>T"	"r.(?)"	"p.(Arg1287Trp)"	""
"0000821394"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
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"0000824093"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824094"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824095"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
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"0000824097"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824098"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
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"0000824102"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824104"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824119"	"00019945"	"90"	"594"	"0"	"597"	"0"	"c.594_597del"	"r.(?)"	"p.(Tyr199Valfs*2)"	""
"0000824131"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824132"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824133"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824134"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824135"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824136"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824137"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824140"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824142"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000824157"	"00019945"	"90"	"594"	"0"	"597"	"0"	"c.594_597del"	"r.(?)"	"p.(Tyr199Valfs*2)"	""
"0000824346"	"00019945"	"90"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	"16"
"0000824358"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000824385"	"00019945"	"90"	"2599"	"0"	"2599"	"0"	"c.2599G>A"	"r.(?)"	"p.(Gly867Ser)"	"20"
"0000824392"	"00019945"	"90"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	"18"
"0000824404"	"00019945"	"90"	"1520"	"0"	"1520"	"0"	"c.1520C>T"	"r.(?)"	"p.(Ala507Val)"	"13"
"0000824413"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000824415"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000824417"	"00019945"	"90"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Leu651Phe)"	"15"
"0000824664"	"00019945"	"50"	"2653"	"0"	"2653"	"0"	"c.2653C>G"	"r.(?)"	"p.(Gln885Glu)"	""
"0000824736"	"00019945"	"50"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000825820"	"00019945"	"70"	"3956"	"0"	"3956"	"0"	"c.3956G>A"	"r.(?)"	"p.(Ser1319Asn)"	"29"
"0000825855"	"00019945"	"70"	"2941"	"-2"	"2941"	"-2"	"c.2941-2A>G"	"r.spl?"	"p.?"	"21i"
"0000826057"	"00019945"	"70"	"2816"	"0"	"2816"	"0"	"c.2816C>T"	"r.(?)"	"p.(Ser939Phe)"	"21"
"0000826211"	"00019945"	"70"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	"18"
"0000827187"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000827188"	"00019945"	"90"	"2066"	"0"	"2066"	"0"	"c.2066A>G"	"r.(?)"	"p.(Tyr689Cys)"	"16"
"0000827189"	"00019945"	"90"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	"16"
"0000827190"	"00019945"	"90"	"1376"	"0"	"1376"	"0"	"c.1376A>T"	"r.(?)"	"p.(Glu459Val)"	"11"
"0000828913"	"00019945"	"70"	"3269"	"0"	"3269"	"0"	"c.3269G>A"	"r.(?)"	"p.(Arg1090Gln)"	""
"0000828929"	"00019945"	"70"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986Cys)"	""
"0000829933"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000829982"	"00019945"	"50"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Gly865Asp)"	"20"
"0000829987"	"00019945"	"50"	"1532"	"0"	"1532"	"0"	"c.1532A>C"	"r.(?)"	"p.(Asn511Thr)"	"13"
"0000850071"	"00019945"	"50"	"3193"	"0"	"3193"	"0"	"c.3193G>A"	"r.(?)"	"p.(Ala1065Thr)"	""
"0000858725"	"00019945"	"30"	"4962"	"0"	"4962"	"0"	"c.4962G>A"	"r.(?)"	"p.(Met1654Ile)"	""
"0000858726"	"00019945"	"10"	"4003"	"17"	"4003"	"17"	"c.4003+17C>G"	"r.(=)"	"p.(=)"	""
"0000877480"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877481"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877482"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877483"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877484"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877485"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877486"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877487"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877488"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877489"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877490"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877491"	"00019945"	"30"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877492"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877493"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877494"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877495"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877496"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877497"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877498"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877499"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877500"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877501"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877502"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877503"	"00019945"	"30"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877513"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000877514"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000877515"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000877516"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000877517"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000877518"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000877519"	"00019945"	"70"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	"16"
"0000877520"	"00019945"	"50"	"2047"	"0"	"2047"	"0"	"c.2047G>T"	"r.(?)"	"p.(Val683Leu)"	"16"
"0000877521"	"00019945"	"70"	"2066"	"0"	"2066"	"0"	"c.2066A>G"	"r.(?)"	"p.(Tyr689Cys)"	"16"
"0000877522"	"00019945"	"70"	"2066"	"0"	"2066"	"0"	"c.2066A>G"	"r.(?)"	"p.(Tyr689Cys)"	"16"
"0000877523"	"00019945"	"70"	"2066"	"0"	"2066"	"0"	"c.2066A>G"	"r.(?)"	"p.(Tyr689Cys)"	"16"
"0000877524"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000877525"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000877526"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000877527"	"00019945"	"50"	"3315"	"0"	"3315"	"0"	"c.3315A>G"	"r.(?)"	"p.(Ala1105=)"	"25"
"0000877528"	"00019945"	"50"	"3315"	"0"	"3315"	"0"	"c.3315A>G"	"r.(?)"	"p.(Ala1105=)"	"25"
"0000877530"	"00019945"	"70"	"2653"	"0"	"2653"	"0"	"c.2653C>G"	"r.(?)"	"p.(Gln885Glu)"	"20"
"0000877531"	"00019945"	"70"	"2653"	"0"	"2653"	"0"	"c.2653C>G"	"r.(?)"	"p.(Gln885Glu)"	"20"
"0000877532"	"00019945"	"70"	"2653"	"0"	"2653"	"0"	"c.2653C>G"	"r.(?)"	"p.(Gln885Glu)"	"20"
"0000877533"	"00019945"	"70"	"2653"	"0"	"2653"	"0"	"c.2653C>G"	"r.(?)"	"p.(Gln885Glu)"	"20"
"0000877534"	"00019945"	"70"	"2653"	"0"	"2653"	"0"	"c.2653C>G"	"r.(?)"	"p.(Gln885Glu)"	"20"
"0000877535"	"00019945"	"70"	"1504"	"0"	"1504"	"0"	"c.1504T>C"	"r.(?)"	"p.(Cys502Arg)"	"12"
"0000877536"	"00019945"	"70"	"5336"	"0"	"5336"	"0"	"c.5336G>A"	"r.(?)"	"p.(Arg1779His)"	"38"
"0000877537"	"00019945"	"70"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""
"0000877538"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877540"	"00019945"	"70"	"1625"	"0"	"1625"	"0"	"c.1625C>T"	"r.(?)"	"p.(Ala542Val)"	""
"0000877541"	"00019945"	"70"	"1625"	"0"	"1625"	"0"	"c.1625C>T"	"r.(?)"	"p.(Ala542Val)"	""
"0000877542"	"00019945"	"70"	"1625"	"0"	"1625"	"0"	"c.1625C>T"	"r.(?)"	"p.(Ala542Val)"	""
"0000877543"	"00019945"	"70"	"2044"	"0"	"2044"	"0"	"c.2044C>T"	"r.(?)"	"p.(Pro682Ser)"	""
"0000877544"	"00019945"	"70"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	""
"0000877545"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877546"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877547"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877548"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877549"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877550"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877551"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877552"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877553"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877554"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877555"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877556"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877557"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877558"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877559"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877560"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877561"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877562"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877563"	"00019945"	"70"	"1634"	"0"	"1634"	"0"	"c.1634G>A"	"r.(?)"	"p.(Arg545His)"	""
"0000877565"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877566"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877567"	"00019945"	"70"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	""
"0000877568"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000877569"	"00019945"	"70"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000877570"	"00019945"	"70"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	""
"0000877571"	"00019945"	"70"	"1547"	"0"	"1547"	"0"	"c.1547G>T"	"r.(?)"	"p.(Cys516Phe)"	""
"0000877572"	"00019945"	"70"	"1547"	"0"	"1547"	"0"	"c.1547G>T"	"r.(?)"	"p.(Cys516Phe)"	""
"0000877573"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000885436"	"00019945"	"30"	"6339"	"0"	"6339"	"0"	"c.6339C>T"	"r.(?)"	"p.(Tyr2113=)"	""
"0000885437"	"00019945"	"30"	"6267"	"10"	"6267"	"10"	"c.6267+10T>A"	"r.(=)"	"p.(=)"	""
"0000885438"	"00019945"	"50"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598Cys)"	""
"0000885439"	"00019945"	"30"	"705"	"0"	"705"	"0"	"c.705C>T"	"r.(?)"	"p.(Val235=)"	""
"0000896494"	"00019945"	"70"	"3269"	"0"	"3269"	"0"	"c.3269G>A"	"r.(?)"	"p.(Arg1090Gln)"	""
"0000896655"	"00019945"	"70"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986Cys)"	""
"0000897028"	"00019945"	"70"	"1708"	"0"	"1708"	"0"	"c.1708A>G"	"r.(?)"	"p.(Thr570Ala)"	"14"
"0000897029"	"00019945"	"70"	"1724"	"0"	"1724"	"0"	"c.1724T>G"	"r.(?)"	"p.(Leu575Arg)"	"14"
"0000897030"	"00019945"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000897031"	"00019945"	"90"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	""
"0000897032"	"00019945"	"90"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Ala787Thr)"	""
"0000897033"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000897034"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000897035"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	""
"0000902088"	"00019945"	"70"	"6088"	"0"	"6088"	"0"	"c.6088C>T"	"r.(?)"	"p.(Arg2030Cys)"	""
"0000902089"	"00019945"	"70"	"6088"	"0"	"6088"	"0"	"c.6088C>T"	"r.(?)"	"p.(Arg2030Cys)"	""
"0000915804"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000915827"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000916241"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	"16"
"0000916312"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000916314"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000916453"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000916650"	"00019945"	"90"	"3260"	"0"	"3260"	"0"	"c.3260C>T"	"r.(?)"	"p.(Ser1087Leu)"	"25"
"0000923797"	"00019945"	"50"	"4072"	"0"	"4072"	"0"	"c.4072A>G"	"r.(?)"	"p.(Ile1358Val)"	""
"0000923798"	"00019945"	"50"	"3130"	"0"	"3130"	"0"	"c.3130G>T"	"r.(?)"	"p.(Val1044Leu)"	""
"0000928666"	"00019945"	"30"	"5457"	"0"	"5457"	"0"	"c.5457C>T"	"r.(?)"	"p.(=)"	""
"0000933404"	"00019945"	"90"	"2580"	"0"	"2580"	"0"	"c.2580G>C"	"r.(?)"	"p.(Gln860His)"	""
"0000947980"	"00019945"	"30"	"4916"	"-9"	"4916"	"-9"	"c.4916-9A>G"	"r.(=)"	"p.(=)"	""
"0000947981"	"00019945"	"30"	"1484"	"0"	"1484"	"0"	"c.1484C>T"	"r.(?)"	"p.(Thr495Met)"	""
"0000957988"	"00019945"	"90"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Arg681Cys)"	""
"0000958832"	"00019945"	"50"	"4171"	"0"	"4171"	"0"	"c.4171A>G"	"r.(?)"	"p.(Met1391Val)"	""
"0000958846"	"00019945"	"50"	"1082"	"0"	"1082"	"0"	"c.1082A>G"	"r.(?)"	"p.(Tyr361Cys)"	""
"0000959055"	"00019945"	"50"	"3130"	"0"	"3130"	"0"	"c.3130G>T"	"r.(?)"	"p.(Val1044Leu)"	""
"0000962324"	"00019945"	"50"	"1704"	"0"	"1704"	"0"	"c.1704A>C"	"r.(?)"	"p.(Glu568Asp)"	""
"0000975463"	"00019945"	"50"	"4943"	"0"	"4943"	"0"	"c.4943G>A"	"r.(?)"	"p.(Arg1648Gln)"	""
"0000975464"	"00019945"	"50"	"3261"	"0"	"3261"	"0"	"c.3261G>A"	"r.(?)"	"p.(=)"	""
"0000993089"	"00019945"	"50"	"1961"	"0"	"1961"	"0"	"c.1961C>A"	"r.(?)"	"p.(Thr654Asn)"	""
"0001013788"	"00019945"	"30"	"6369"	"0"	"6369"	"0"	"c.6369C>T"	"r.(?)"	"p.(=)"	""
"0001013789"	"00019945"	"50"	"6347"	"0"	"6347"	"0"	"c.6347G>A"	"r.(?)"	"p.(Cys2116Tyr)"	""
"0001013790"	"00019945"	"30"	"6093"	"-6"	"6093"	"-6"	"c.6093-6C>T"	"r.(=)"	"p.(=)"	""
"0001013791"	"00019945"	"50"	"4706"	"0"	"4706"	"0"	"c.4706C>T"	"r.(?)"	"p.(Thr1569Ile)"	""
"0001013792"	"00019945"	"70"	"2684"	"0"	"2684"	"0"	"c.2684C>G"	"r.(?)"	"p.(Ser895*)"	""
"0001024690"	"00019945"	"30"	"4585"	"-5"	"4585"	"-5"	"c.4585-5G>A"	"r.spl?"	"p.?"	""
"0001024691"	"00019945"	"70"	"3269"	"0"	"3269"	"0"	"c.3269G>T"	"r.(?)"	"p.(Arg1090Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 308
"{{screeningid}}"	"{{variantid}}"
"0000000014"	"0000001164"
"0000001595"	"0000019495"
"0000033163"	"0000060527"
"0000033173"	"0000060528"
"0000033184"	"0000060520"
"0000033186"	"0000060524"
"0000033187"	"0000060525"
"0000033191"	"0000060521"
"0000033193"	"0000060522"
"0000033193"	"0000060523"
"0000033213"	"0000060526"
"0000033746"	"0000060529"
"0000233403"	"0000476111"
"0000233404"	"0000476112"
"0000233405"	"0000476113"
"0000233406"	"0000476114"
"0000233407"	"0000476115"
"0000233408"	"0000476116"
"0000233409"	"0000476117"
"0000233410"	"0000476118"
"0000233411"	"0000476119"
"0000233412"	"0000476120"
"0000233413"	"0000476121"
"0000233414"	"0000476122"
"0000233415"	"0000476123"
"0000233416"	"0000476124"
"0000233417"	"0000476125"
"0000233418"	"0000476126"
"0000233419"	"0000476127"
"0000233420"	"0000476128"
"0000233421"	"0000476129"
"0000233422"	"0000476130"
"0000233423"	"0000476131"
"0000233424"	"0000476132"
"0000310570"	"0000685481"
"0000326736"	"0000710328"
"0000329228"	"0000713351"
"0000329634"	"0000713982"
"0000329650"	"0000713998"
"0000333477"	"0000731128"
"0000334580"	"0000732436"
"0000334842"	"0000732849"
"0000335085"	"0000733094"
"0000335658"	"0000734364"
"0000335669"	"0000734363"
"0000336792"	"0000736328"
"0000336793"	"0000736329"
"0000336794"	"0000736330"
"0000336960"	"0000736500"
"0000336967"	"0000736507"
"0000336968"	"0000736508"
"0000336969"	"0000736509"
"0000336970"	"0000736510"
"0000336971"	"0000736511"
"0000336972"	"0000736512"
"0000360342"	"0000760234"
"0000360361"	"0000760253"
"0000360411"	"0000760303"
"0000360414"	"0000760306"
"0000360433"	"0000760325"
"0000363302"	"0000763879"
"0000364643"	"0000765518"
"0000364644"	"0000765519"
"0000364645"	"0000765520"
"0000364646"	"0000765521"
"0000364869"	"0000765811"
"0000364908"	"0000765850"
"0000373855"	"0000784520"
"0000373864"	"0000784177"
"0000373865"	"0000784178"
"0000373866"	"0000784179"
"0000373867"	"0000784180"
"0000373904"	"0000784564"
"0000373943"	"0000784456"
"0000373981"	"0000784294"
"0000374718"	"0000785541"
"0000374719"	"0000785542"
"0000375093"	"0000786360"
"0000375157"	"0000786452"
"0000376091"	"0000787624"
"0000376125"	"0000787658"
"0000376486"	"0000788094"
"0000376487"	"0000788095"
"0000376541"	"0000788149"
"0000376628"	"0000788356"
"0000376646"	"0000788539"
"0000376647"	"0000788540"
"0000377983"	"0000790433"
"0000377990"	"0000790606"
"0000377991"	"0000790613"
"0000377997"	"0000790627"
"0000378000"	"0000790638"
"0000378022"	"0000790682"
"0000378030"	"0000790690"
"0000378683"	"0000791532"
"0000378684"	"0000791533"
"0000378685"	"0000791534"
"0000378686"	"0000791535"
"0000378687"	"0000791536"
"0000378688"	"0000791537"
"0000380632"	"0000793784"
"0000380651"	"0000793803"
"0000380950"	"0000794196"
"0000381097"	"0000794395"
"0000382065"	"0000795718"
"0000382066"	"0000795719"
"0000382067"	"0000795720"
"0000382456"	"0000796281"
"0000382892"	"0000796843"
"0000382921"	"0000796883"
"0000383035"	"0000797019"
"0000383124"	"0000797116"
"0000383125"	"0000797117"
"0000383126"	"0000797118"
"0000383653"	"0000797839"
"0000383818"	"0000798086"
"0000385524"	"0000812601"
"0000385649"	"0000812748"
"0000386283"	"0000813690"
"0000386850"	"0000814609"
"0000387486"	"0000001164"
"0000387530"	"0000815632"
"0000387838"	"0000815996"
"0000387875"	"0000816033"
"0000387884"	"0000816042"
"0000387898"	"0000816056"
"0000387898"	"0000816392"
"0000388022"	"0000816180"
"0000388144"	"0000816564"
"0000388147"	"0000816555"
"0000388255"	"0000816715"
"0000388256"	"0000816716"
"0000388257"	"0000816717"
"0000390136"	"0000819481"
"0000390174"	"0000819519"
"0000390175"	"0000819520"
"0000390176"	"0000819521"
"0000390385"	"0000819730"
"0000390386"	"0000819731"
"0000390387"	"0000819732"
"0000390707"	"0000820052"
"0000390708"	"0000820053"
"0000390709"	"0000820054"
"0000390710"	"0000820055"
"0000390734"	"0000820079"
"0000390735"	"0000820080"
"0000390736"	"0000820081"
"0000390763"	"0000820108"
"0000390813"	"0000820158"
"0000390823"	"0000820168"
"0000390918"	"0000820263"
"0000391018"	"0000820363"
"0000391041"	"0000820386"
"0000391185"	"0000820530"
"0000391230"	"0000820575"
"0000391238"	"0000820583"
"0000391644"	"0000821394"
"0000392165"	"0000822346"
"0000392165"	"0000822347"
"0000393361"	"0000824093"
"0000393362"	"0000824094"
"0000393363"	"0000824095"
"0000393364"	"0000824096"
"0000393365"	"0000824097"
"0000393366"	"0000824098"
"0000393367"	"0000824099"
"0000393370"	"0000824102"
"0000393372"	"0000824104"
"0000393377"	"0000824119"
"0000393386"	"0000824131"
"0000393387"	"0000824132"
"0000393388"	"0000824133"
"0000393389"	"0000824134"
"0000393390"	"0000824135"
"0000393391"	"0000824136"
"0000393392"	"0000824137"
"0000393395"	"0000824140"
"0000393397"	"0000824142"
"0000393402"	"0000824157"
"0000393569"	"0000824346"
"0000393579"	"0000824358"
"0000393605"	"0000824385"
"0000393612"	"0000824392"
"0000393623"	"0000824404"
"0000393632"	"0000824413"
"0000393634"	"0000824415"
"0000393636"	"0000824417"
"0000393842"	"0000824664"
"0000393914"	"0000824736"
"0000394792"	"0000825820"
"0000394814"	"0000825855"
"0000394947"	"0000826057"
"0000395045"	"0000826211"
"0000395785"	"0000827187"
"0000395786"	"0000827188"
"0000395787"	"0000827189"
"0000395788"	"0000827190"
"0000397167"	"0000828913"
"0000397183"	"0000828929"
"0000397801"	"0000829982"
"0000397872"	"0000829933"
"0000397889"	"0000829987"
"0000417751"	"0000877480"
"0000417752"	"0000877481"
"0000417753"	"0000877482"
"0000417754"	"0000877483"
"0000417755"	"0000877484"
"0000417756"	"0000877485"
"0000417757"	"0000877486"
"0000417758"	"0000877487"
"0000417759"	"0000877488"
"0000417760"	"0000877489"
"0000417761"	"0000877490"
"0000417762"	"0000877491"
"0000417763"	"0000877492"
"0000417764"	"0000877493"
"0000417765"	"0000877494"
"0000417766"	"0000877495"
"0000417767"	"0000877496"
"0000417768"	"0000877497"
"0000417769"	"0000877498"
"0000417770"	"0000877499"
"0000417771"	"0000877500"
"0000417772"	"0000877501"
"0000417773"	"0000877502"
"0000417774"	"0000877503"
"0000417782"	"0000877513"
"0000417783"	"0000877514"
"0000417784"	"0000877515"
"0000417785"	"0000877516"
"0000417786"	"0000877517"
"0000417787"	"0000877518"
"0000417788"	"0000877519"
"0000417789"	"0000877520"
"0000417790"	"0000877521"
"0000417791"	"0000877522"
"0000417792"	"0000877523"
"0000417793"	"0000877524"
"0000417794"	"0000877525"
"0000417795"	"0000877526"
"0000417796"	"0000877527"
"0000417797"	"0000877528"
"0000417798"	"0000877530"
"0000417799"	"0000877531"
"0000417800"	"0000877532"
"0000417801"	"0000877533"
"0000417802"	"0000877534"
"0000417803"	"0000877535"
"0000417804"	"0000877536"
"0000417805"	"0000877537"
"0000417806"	"0000877538"
"0000417808"	"0000877540"
"0000417809"	"0000877541"
"0000417810"	"0000877542"
"0000417811"	"0000877543"
"0000417812"	"0000877544"
"0000417813"	"0000877545"
"0000417814"	"0000877546"
"0000417815"	"0000877547"
"0000417816"	"0000877548"
"0000417817"	"0000877549"
"0000417818"	"0000877550"
"0000417819"	"0000877551"
"0000417820"	"0000877552"
"0000417821"	"0000877553"
"0000417822"	"0000877554"
"0000417823"	"0000877555"
"0000417824"	"0000877556"
"0000417825"	"0000877557"
"0000417826"	"0000877558"
"0000417827"	"0000877559"
"0000417828"	"0000877560"
"0000417829"	"0000877561"
"0000417830"	"0000877562"
"0000417831"	"0000877563"
"0000417833"	"0000877565"
"0000417834"	"0000877566"
"0000417835"	"0000877567"
"0000417836"	"0000877568"
"0000417837"	"0000877569"
"0000417838"	"0000877570"
"0000417839"	"0000877571"
"0000417840"	"0000877572"
"0000417841"	"0000877573"
"0000421730"	"0000896494"
"0000421841"	"0000896655"
"0000422139"	"0000897028"
"0000422140"	"0000897029"
"0000422141"	"0000897030"
"0000422142"	"0000897031"
"0000422143"	"0000897032"
"0000422144"	"0000897033"
"0000422145"	"0000897034"
"0000422146"	"0000897035"
"0000425363"	"0000902088"
"0000425364"	"0000902089"
"0000430913"	"0000915804"
"0000430931"	"0000915827"
"0000431212"	"0000916241"
"0000431255"	"0000916312"
"0000431257"	"0000916314"
"0000431349"	"0000916453"
"0000431475"	"0000916650"
"0000437938"	"0000933404"
"0000448502"	"0000957988"
"0000449065"	"0000958832"
"0000449079"	"0000958846"
"0000449288"	"0000959055"