### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SPATA7)
# 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}}"
"SPATA7"	"spermatogenesis associated 7"	"14"	"q31.3"	"unknown"	"NG_021183.1"	"UD_132119081931"	""	"http://www.LOVD.nl/SPATA7"	""	"1"	"20423"	"55812"	"609868"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/SPATA7_NM_018418.4_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2015-02-28 14:06:35"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00024022"	"SPATA7"	"transcript variant 1"	"001"	"NM_018418.4"	""	"NP_060888.2"	""	""	""	"-175"	"1838"	"1800"	"88851988"	"88904804"	"00006"	"2015-02-27 17:56:23"	""	""


## 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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"02488"	"LCA3"	"Leber congenital amaurosis, type 3 (LCA-3)"	""	"604232"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05415"	"USH"	"Usher syndrome (USH)"	""	""	""	""	""	"00006"	"2018-04-02 16:40:44"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SPATA7"	"02488"


## Individuals ## Do not remove or alter this header ##
## Count = 128
"{{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}}"
"00016612"	""	""	""	"1"	""	"00552"	""	""	""	""	""	""	"0"	""	""	""	""
"00033121"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033688"	""	""	""	"1"	""	"00243"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"India, south"	""
"00081004"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00155552"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0401"
"00207470"	""	""	""	"2"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00207684"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00233250"	""	""	""	"122"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233251"	""	""	""	"28"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233252"	""	""	""	"475"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233253"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233254"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233255"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233256"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233257"	""	""	""	"8"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233258"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233259"	""	""	""	"16"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233260"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233261"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233262"	""	""	""	"10"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233263"	""	""	""	"63"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233777"	""	""	""	"6"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233778"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233779"	""	""	""	"98"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233780"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00269586"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269593"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00291135"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309426"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309427"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0758"
"00309428"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00325413"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"169"
"00332270"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam16PatFBP_49"
"00332355"	""	""	""	"2"	""	"00000"	"{PMID:Thompson 2017:29178642}"	"family, 2 affected"	""	""	"Australia"	""	"0"	""	""	""	"Fam1543"
"00332391"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat7;Pat12;Pat12"
"00332454"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat12"
"00333464"	""	""	""	"1"	""	"00000"	"{PMID:Soens 2017:28714225}"	"possible duplicate"	""	""	""	""	"0"	""	""	""	"SRF_692"
"00333482"	""	""	""	"1"	""	"00000"	"{PMID:Soens 2017:28714225}"	"possible duplicate"	""	""	""	""	"0"	""	""	""	"ZPQ_055"
"00335170"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"751"
"00335399"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP034"
"00358911"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous mother"	""	""	"China"	""	"0"	""	""	"Han"	"Fam23"
"00358912"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam24"
"00359078"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12012257"
"00359209"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12002956"
"00363648"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1312"
"00363651"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1397"
"00363652"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1400"
"00363657"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1673"
"00368356"	""	""	""	"1"	""	"01695"	"{PMID:Xu 2014:24938718}"	"Younger brother affected as well"	"M"	"no"	"China"	""	"0"	""	""	"China"	"RP250"
"00372075"	""	""	""	"1"	""	"00000"	"{PMID:Srilekha 2015:26147992}"	"family"	""	"yes"	"India"	""	"0"	""	""	"India-S"	"FamLCA-11"
"00372455"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"86"
"00372458"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"558"
"00372492"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"692"
"00372635"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP399"
"00372664"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP307"
"00372677"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP236"
"00372686"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP223"
"00372701"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP391"
"00372737"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP225"
"00373897"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-039-096"
"00375410"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#001"
"00375419"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#011"
"00375443"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2014:25133751}"	"family"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"MA15"
"00376793"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"60"
"00377524"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE69"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE69"
"00377544"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family S132"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"S132"
"00377884"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"Wang et al., 2009"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377885"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377896"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"Twin#"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377897"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377905"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00379676"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0066"
"00379767"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0119"
"00379896"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016082903"
"00380836"	""	""	""	"1"	""	"00000"	"{PMID:Ivanova 2018:30358468}"	""	"F"	""	"Russian Federation"	""	"0"	""	""	"Slavonian"	"Pat16"
"00381042"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381160"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi-2013:24043777}"	""	"F"	"yes"	""	""	"0"	""	""	"Japanese"	""
"00381164"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi-2013:24043777}"	""	"F"	"yes"	""	""	"0"	""	""	"Japanese"	""
"00381197"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381217"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381218"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381625"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381657"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00383985"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1374"
"00383994"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1478"
"00384026"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1736"
"00384208"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066878"
"00385063"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67010"
"00387077"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"103"
"00387626"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"11"
"00388178"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"35;Pat82"
"00388185"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"M"	""	"Korea"	""	"0"	""	""	""	"42"
"00391568"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"Pacific"	"65"
"00391569"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"Asian"	"66"
"00391717"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"104"
"00391718"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"105"
"00391719"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"106"
"00393462"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393839"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00394005"	""	""	""	"1"	""	"00000"	"{PMID:Salmaninejad-202:33173045}"	""	""	"yes"	""	""	"0"	""	""	"Iranian"	""
"00394006"	""	""	""	"1"	""	"00000"	"{PMID:Salmaninejad-202:33173045}"	"parents and the healthy sister were both heterozygous."	""	"yes"	""	""	"0"	""	""	"Iranian"	""
"00394635"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00408075"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2010:20104588}"	"Family 1, proband"	"F"	""	"France"	""	"0"	""	""	"French"	"1"
"00408076"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2010:20104588}"	"Family 1, proband\'s sibling"	"F"	""	"France"	""	"0"	""	""	"French"	"2"
"00408077"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2010:20104588}"	"Family 2"	"M"	""	"France"	""	"0"	""	""	"Greek"	"3"
"00408078"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2010:20104588}"	"Family 3"	"F"	""	"France"	""	"0"	""	""	"Polish, French"	"4"
"00408079"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2010:20104588}"	"Family 4"	"F"	""	"France"	""	"0"	""	""	"French"	"5"
"00408081"	""	""	""	"1"	""	"00000"	"{PMID:Alabdullatif 2017:27717089}"	""	"F"	"yes"	"United Arab Emirates"	""	"0"	""	""	""	"32"
"00408106"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2018:28481129}"	"PRPH2 c.649A>G p.S217G variant also found in three family memebers (including unaffected)"	"M"	"yes"	"Germany"	""	"0"	""	""	""	"Male, 52"
"00408107"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2018:28481129}"	"PRPH2 c.649A>G p.S217G variant also found in three family memebers (including unaffected)"	"F"	"yes"	"Germany"	""	"0"	""	""	""	"Female, 48"
"00408108"	""	""	""	"1"	""	"00000"	"{PMID:Sengillo 2018:29411205}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00408132"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF01-PMID: 27375279- QT1124"	"M"	""	"China"	""	"0"	""	""	""	"F01-II:1"
"00408133"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF02-new"	"F"	""	"China"	""	"0"	""	""	""	"F02-II:1"
"00408134"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF03-PMID: 27375279- QT1237"	"F"	""	"China"	""	"0"	""	""	""	"F03-II:1"
"00408135"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF03-new"	"M"	""	"China"	""	"0"	""	""	""	"F03-II:2"
"00408136"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF04-PMID: 21602930- LH24"	"M"	""	"China"	""	"0"	""	""	""	"F04-II:1"
"00408137"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF05-new"	"F"	""	"China"	""	"0"	""	""	""	"F05-II:1"
"00408138"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF06-new"	"M"	""	"China"	""	"0"	""	""	""	"F06-II:1"
"00408139"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF07-PMID 24938718- RP236"	"M"	""	"China"	""	"0"	""	""	""	"F07-II:1"
"00408140"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF08-new"	"M"	""	"China"	""	"0"	""	""	""	"F08-II:1"
"00408141"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF09-new"	"M"	""	"China"	""	"0"	""	""	""	"F09-II:1"
"00408142"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF10-new"	"M"	""	"China"	""	"0"	""	""	""	"F10-II:1"
"00408143"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2019:31908400}"	"family ZOCF10-new"	"M"	""	"China"	""	"0"	""	""	""	"F10-II:2"
"00429688"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429964"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00441668"	""	""	""	"1"	""	"04542"	"{PMID:de Bruijn 2023:36524988}"	""	""	""	""	""	"0"	""	""	""	"DNA18-16470"
"00447313"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1236"
"00461077"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"M"	""	"South Africa"	""	"0"	""	""	"white"	"Pat12"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 127
"{{individualid}}"	"{{diseaseid}}"
"00033121"	"04214"
"00033688"	"04210"
"00081004"	"02488"
"00155552"	"04214"
"00207470"	"04210"
"00207684"	"00381"
"00233250"	"04214"
"00233251"	"04214"
"00233252"	"04214"
"00233253"	"04214"
"00233254"	"04214"
"00233255"	"04214"
"00233256"	"04214"
"00233257"	"04214"
"00233258"	"04214"
"00233259"	"04214"
"00233260"	"04214"
"00233261"	"04214"
"00233262"	"04214"
"00233263"	"04214"
"00233777"	"04214"
"00233778"	"04214"
"00233779"	"04214"
"00233780"	"04214"
"00269586"	"04210"
"00269593"	"04210"
"00291135"	"00198"
"00309426"	"04214"
"00309427"	"04214"
"00309428"	"04214"
"00325413"	"04214"
"00332270"	"04214"
"00332355"	"04214"
"00332391"	"04214"
"00332454"	"04214"
"00333464"	"04214"
"00333482"	"04214"
"00335170"	"00198"
"00335399"	"04214"
"00358911"	"04214"
"00358912"	"04214"
"00359078"	"04214"
"00359209"	"04214"
"00363648"	"04214"
"00363651"	"04214"
"00363652"	"04214"
"00363657"	"04214"
"00368356"	"04214"
"00372075"	"04214"
"00372455"	"04214"
"00372458"	"04214"
"00372492"	"04214"
"00372635"	"04214"
"00372664"	"04214"
"00372677"	"04214"
"00372686"	"04214"
"00372701"	"04214"
"00372737"	"04214"
"00373897"	"04214"
"00375410"	"04214"
"00375419"	"04214"
"00375443"	"04214"
"00376793"	"04214"
"00377524"	"04214"
"00377544"	"04214"
"00377884"	"04214"
"00377885"	"04214"
"00377896"	"04214"
"00377897"	"04214"
"00377905"	"04214"
"00379676"	"04210"
"00379767"	"00112"
"00379896"	"04214"
"00380836"	"05415"
"00381042"	"04214"
"00381160"	"04214"
"00381164"	"04214"
"00381197"	"04214"
"00381217"	"04214"
"00381218"	"04214"
"00381625"	"04214"
"00381657"	"04214"
"00383985"	"04214"
"00383994"	"04214"
"00384026"	"04214"
"00384208"	"04214"
"00385063"	"04214"
"00387077"	"04214"
"00387626"	"04214"
"00388178"	"04214"
"00388185"	"04214"
"00391568"	"04214"
"00391569"	"04214"
"00391717"	"04214"
"00391718"	"04214"
"00391719"	"04214"
"00393462"	"04214"
"00393839"	"04214"
"00394005"	"04214"
"00394006"	"04214"
"00394635"	"04214"
"00408075"	"04214"
"00408076"	"04214"
"00408077"	"04214"
"00408078"	"04214"
"00408079"	"04214"
"00408081"	"04214"
"00408106"	"04214"
"00408107"	"04214"
"00408108"	"04214"
"00408132"	"04214"
"00408133"	"04214"
"00408134"	"04214"
"00408135"	"04214"
"00408136"	"04214"
"00408137"	"04214"
"00408138"	"04214"
"00408139"	"04214"
"00408140"	"04214"
"00408141"	"04214"
"00408142"	"04214"
"00408143"	"04214"
"00429688"	"00112"
"00429964"	"04210"
"00441668"	"00112"
"00447313"	"00198"
"00461077"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 02488, 04210, 04214, 05415
## Count = 106
"{{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}}"
"0000026550"	"04214"	"00033121"	"00229"	"Unknown"	"9y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000027117"	"04210"	"00033688"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"00y00m00d"	""	""	""	""	""	""	""	""	""	""
"0000060573"	"02488"	"00081004"	"01758"	"Familial, autosomal recessive"	""	"Leber congenital amaurosis 3 (OMIM:604232)"	""	""	""	""	""	""	""	""	""	""	""
"0000128052"	"04214"	"00155552"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000155248"	"04210"	"00207470"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155474"	"00381"	"00207684"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000234746"	"04214"	"00309426"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234747"	"04214"	"00309427"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234748"	"04214"	"00309428"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000243900"	"04214"	"00325413"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000250457"	"04214"	"00332270"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250541"	"04214"	"00332355"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250577"	"04214"	"00332391"	"00000"	"Familial, autosomal recessive"	"1y7m"	"Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250638"	"04214"	"00332454"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000251649"	"04214"	"00333464"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251667"	"04214"	"00333482"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252885"	"00198"	"00335170"	"00000"	"Unknown"	""	"0y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000253345"	"04214"	"00335399"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254171"	"04214"	"00358911"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254172"	"04214"	"00358912"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254375"	"04214"	"00359078"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254506"	"04214"	"00359209"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000258998"	"04214"	"00363648"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000259001"	"04214"	"00363651"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000259002"	"04214"	"00363652"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259007"	"04214"	"00363657"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000263694"	"04214"	"00368356"	"01695"	"Unknown"	""	"At the age of 19, the visual acuity was 0.04/0.03 (OD/OS). The fundus showed: attenuated retinal arteries;macular degeneration. ERG response of the rods was: Extinguished and of the cones was Severe."	"12y"	""	"poor vision"	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267404"	"04214"	"00372075"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267770"	"04214"	"00372455"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267773"	"04214"	"00372458"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267807"	"04214"	"00372492"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267914"	"04214"	"00372635"	"00000"	"Isolated (sporadic)"	"6y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267943"	"04214"	"00372664"	"00000"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267956"	"04214"	"00372677"	"00000"	"Familial, autosomal recessive"	"3y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267965"	"04214"	"00372686"	"00000"	"Isolated (sporadic)"	"34y"	"see paper; ..."	"24y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267980"	"04214"	"00372701"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268016"	"04214"	"00372737"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269106"	"04214"	"00373897"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270624"	"04214"	"00375410"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270633"	"04214"	"00375419"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270657"	"04214"	"00375443"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272004"	"04214"	"00376793"	"00000"	"Unknown"	"7y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272674"	"04214"	"00377524"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272694"	"04214"	"00377544"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000273030"	"04214"	"00377884"	"00000"	"Isolated (sporadic)"	"1y3m"	""	"7m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273031"	"04214"	"00377885"	"00000"	"Isolated (sporadic)"	"5m"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273042"	"04214"	"00377896"	"00000"	"Unknown"	"2y9m"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273043"	"04214"	"00377897"	"00000"	"Unknown"	"4y11m"	""	"11m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273051"	"04214"	"00377905"	"00000"	"Isolated (sporadic)"	"2y"	"nystagmus, poor vision"	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273520"	"04210"	"00379676"	"03508"	"Familial, autosomal recessive"	""	"HP:0032122,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000551,\tHP:0001288,\tHP:0000007,\tHP:0000639,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273621"	"00112"	"00379767"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273750"	"04214"	"00379896"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa?"	""
"0000274689"	"05415"	"00380836"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""	""
"0000274893"	"04214"	"00381042"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275011"	"04214"	"00381160"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa (ARRP)"	""
"0000275015"	"04214"	"00381164"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa (ARRP)"	""
"0000275048"	"04214"	"00381197"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275068"	"04214"	"00381217"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275069"	"04214"	"00381218"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275467"	"04214"	"00381625"	"00000"	"Familial, autosomal recessive"	""	""	"12y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275499"	"04214"	"00381657"	"00000"	"Familial, autosomal recessive"	""	""	"9y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000277770"	"04214"	"00383985"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277779"	"04214"	"00383994"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277811"	"04214"	"00384026"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277993"	"04214"	"00384208"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278847"	"04214"	"00385063"	"00000"	"Familial, autosomal recessive"	"9m"	"best corrected visual acuity right/left eye: NA"	"1m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000280855"	"04214"	"00387077"	"00000"	"Familial, autosomal recessive"	"50y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000281189"	"04214"	"00387626"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Microphthalmia anophthalmia colobomaulopathy"	"Adult retinal dystrophy"	""
"0000281771"	"04214"	"00388178"	"00000"	"Unknown"	"7y2m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: LP+/LP+, fundus: Marble fundus & Salt and pepper like degeneration, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281778"	"04214"	"00388185"	"00000"	"Unknown"	"38y10m"	"Nystagmus: 1-2Hz pendular nystagmus, best corrected visual acuity right eye/left eye: HM/HM, fundus: Pigmentary retinal changes at periphery, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000284904"	"04214"	"00391568"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000284905"	"04214"	"00391569"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"EOrod-cone dystrophy"	""
"0000285042"	"04214"	"00391717"	"00000"	"Unknown"	""	""	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000285043"	"04214"	"00391718"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/200;20/400"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000285044"	"04214"	"00391719"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/200;20/200"	"5m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000286668"	"04214"	"00393462"	"00000"	"Isolated (sporadic)"	"10y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287045"	"04214"	"00393839"	"00000"	"Isolated (sporadic)"	"61y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287211"	"04214"	"00394005"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Inherited Retinal Dystrophies"	""
"0000287212"	"04214"	"00394006"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Inherited Retinal Dystrophies"	""
"0000287838"	"04214"	"00394635"	"00000"	"Familial, autosomal recessive"	"57y"	""	"1y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000300203"	"04214"	"00408075"	"00000"	"Familial, autosomal recessive"	"3y"	"night blindness by the age of 3y; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300204"	"04214"	"00408076"	"00000"	"Familial, autosomal recessive"	"7y"	"night blindness by the age of 3y; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300205"	"04214"	"00408077"	"00000"	"Familial, autosomal recessive"	"13y"	"night blindness by the age of 3y; fundus autofluorescence: parafoveal ring of mildly increased autofluorescence suggesting a relative preservation of parafoveal retinal pigment epithelium but a severely decreased autofluorescence from the paramacular region to the retinal periphery, including along the arterioles; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300206"	"04214"	"00408078"	"00000"	"Familial, autosomal recessive"	"33y"	"night blindness by the age of 3y; complete absence of fundus autofluorescence; visual field progressively constricted to become tubular; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300207"	"04214"	"00408079"	"00000"	"Familial, autosomal recessive"	"25y"	"night blindness by the age of 3y; visual field progressively constricted to become tubular; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300209"	"04214"	"00408081"	"00000"	"Familial, autosomal recessive"	"3y"	"3 years old female child that was noticed at the age of 6 months to have wandering eyes. Fundoscopic examination showed bilateral retinal dystrophy consistent with the diagnosis of Leber congenital amaurosis. She also had speech delay and found to have unilateral left sided hearing loss. She had some distinctive facial features (deep-set eyes and triangular mouth). Her parents were cousins and she has two unaffected siblings."	""	""	""	""	""	""	""	""	"Leber congenital amaurosis 3"	""	""
"0000300234"	"04214"	"00408106"	"00000"	"Familial, autosomal recessive"	"52y"	"best corrected visual acuity right/left eye: 0.2 /0.16; refraction right/left eye: -3,5 sph -0,5 cyl 28deg/-3,0 sph -0,75 cyl 141deg; kinetic visual field for target III4e: concentric narrowing to 2deg; electroretinography (full-field and multifocal): non-detectable; dark adaptation for white stimulus: significantly elevated thresholds; color vision: color confusion without assignment to a specific axis; funduscopic findings: prominent bone-spicule-like pigmentation, attenuated arterioles, optic disc pallor; central retinal thickness in spectral domain optical coherence tomography right/left eye: 231 um/232 um; foveal inner segment/outer segment junction preserved; fundus autofluorescence: severely decreased autofluorescence with a small remaining macular island; additional findings: pseudophakic"	""	""	""	""	""	""	""	""	"rod-cone-dystrophy"	""	""
"0000300235"	"04214"	"00408107"	"00000"	"Familial, autosomal recessive"	"48y"	"best corrected visual acuity right/left eye: 0.125 /0.125; refraction right/left eye: -9,0 sph -2,25 cyl 48deg/-9,0 sph -4,5 cyl 131deg; kinetic visual field for target III4e: concentric narrowing to 40deg and small central scotoma for target I4e; electroretinography (full-field and multifocal): reduced cone and rod responses (better preserved rod function); dark adaptation for white stimulus: moderately elevated thresholds; color vision: tritanomalous defect; funduscopic findings: bone-spicule-like pigmentation mid-periphery, attenuated arterioles, optic disc pallor, peripapillary conus; central retinal thickness in spectral domain optical coherence tomography right/left eye: 154 um /150 um; foveal inner segment/outer segment junction loss of photoreceptor outer segments; fundus autofluorescence: parafoveal ring of mildly increased autofluorescence, as well as slightly reduced autofluorescence of the paramacular region; additional findings: cataract, nystagmus, strabism"	""	""	""	""	""	""	""	""	"cone-rod-dystrophy"	""	""
"0000300236"	"04214"	"00408108"	"00000"	"Familial, autosomal recessive"	"63y"	"progressive nyctalopia, visual field constriction, recent, rapid decline of visual acuity in the left eye accompanying a recent halo effect around objects; ocular history: cataract surgery and subsequent Yag laser capsulotomy four years prior in both eyes; no family history; at presentation, the patient was taking supplemental vitamin A and lutein; best corrected visual acuity right, left eye: 20/30, 20/60 with plano refraction bilaterally; unremarkable anterior chamber and iris, with each eye containing a posterior chamber intraocular lens that was well positioned; fundus: extensive chorioretinal degeneration of the peripheral retina, progressing toward the central macula which contained triangular-shaped islands of spared retinal pigment epithelium in each eye; a smaller, spared region of  retinal pigment epithelium nasal to the discs in both eyes; extensive intraretinal pigment migration along the midperiphery; dense opacity noted in the vitreous of the left eye was consistent with a floater obstructing the visual axis; short-wavelength fundus autofluorescence: widespread, continuous loss of  retinal pigment epithelium encroaching on the central macula in both eyes, degenerative boundaries between spared and affected  retinal pigment epithelium appeared sharp; the parafoveal region of each eye appeared to have a relatively increased area of hyperautofluorescence; spectral domain optical coherence tomography corroborated findings seen on fundus autofluorescence and fundoscopy; extensive degeneration and sclerosis of the choroid was evident in areas of retinal pigment epithelium loss, areas with retinal pigment epithelium loss showed increased transmittance of signal to the choroidal and scleral layers; enhanced depth imaging on spectral domain optical coherence tomography: an abrupt thinning of the underlying choroidal layer in areas of atrophy adjacent to the region of spared  retinal pigment epithelium; an outer retinal tubulation temporally in the right; focal areas of retinal pigment epithelium thickening were present and more prominent in the left eye; full-field electroretinography: completely extinguished scotopic and photopic responses; 30 Hz flicker amplitudes: undetectable at less than 0.1 lv in both eyes; removal of the vitreous opacity by 25-guage vitrectomy, endolaser focal photocoagulation, and air-fluid exchange surgery, during which a small membrane was noted to be overlying the posterior pole of the central island which was peeled from the macula. No tears or leakage were noted at the end of surgery, and the vitreous was filled with a gas bubble, with the retina appearing completely flat. Fundus: left eye clear vitreous and a spared central island which was previously less discernable; 2y later no subsequent changes in vision; best corrected visual acuity right, left eye: 20/25, 20/60, fundus unchanged; spectral domain optical coherence tomography: previous outer retinal tubulation seen in the temporal macula of the right eye was now absent with the corresponding area showing retinal pigment epithelium atrophy, increased choroidal sclerosis, and transmittance of signal to the sclera; fundus autofluorescence: reduction in the area of centrally spared retinal pigment epithelium as compared to its appearance at baseline, bilaterally (right eye 4.4 mm2; left eye - 3.8 mm2)"	""	"31y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000300261"	"04214"	"00408132"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 7m, age at 1st exam: 10m; best corrected visual acuity right/left eye: no pursuit of light / no pursuit of light; fundus changes: attenuated vessels, yellowish-white frosted degeneration in midperipheral retina, electroretinogram rods/cones: extinguis"	"4m"	""	"poor vision or no pursuit of objects, ocular digital sign, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300262"	"04214"	"00408133"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 4y4m, refraction: +5.25; +5.75; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: attenuated vessels, tapetoretinal degenerati"	"<1y"	""	"poor vision or no pursuit of objects, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300263"	"04214"	"00408134"	"00000"	"Familial, autosomal recessive"	""	"age at 1st exam: 2y4m; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: attenuated vessels, yellowish-white sandy beach in midperipheral retina, electroretinogram rods/cones: extinguish"	"<1y"	""	"poor vision or no pursuit of objects, ocular digital sign, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300264"	"04214"	"00408135"	"00000"	"Familial, autosomal recessive"	""	"age at 1st exam: 1y4m; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: attenuated vessels, yellowish-white sandy beach in midperipheral reti"	"<1y"	""	"poor vision or no pursuit of objects, ocular digital sign, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300265"	"04214"	"00408136"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 1y4m; best corrected visual acuity right/left eye: no pursuit of light / no pursuit of light; fundus changes: attenuated vessels, tapetoretinal degeneration, electroretinogram rods/cones: extinguish"	"7m"	""	"poor vision or no pursuit of objects, ocular digital sign, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300266"	"04214"	"00408137"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 13y; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: attenuated vessels, yellowish-white mottled degeneration in midperipheral retina, a few tiny pepper-powder like pigmentation, electroretinogram rods/cones: extinguish"	"<1y"	""	"poor vision or no pursuit of objects, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300267"	"04214"	"00408138"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 2y5m, refraction: +5.00; +4.75; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: normal-like, electroretinogram rods/cones: extinguish"	"4m"	""	"poor vision or no pursuit of objects, roving nystagmus"	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000300268"	"04214"	"00408139"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 3y5m, age at 1st exam: 8y6m, refraction: -1.50; -1.25; best corrected visual acuity right/left eye: 0.4 / 0.6; fundus changes: attenuated vessels, yellowish-white mottled degeneration in midperipheral retina, a few tiny pepper-powder like pigmentation, electroretinogram rods/cones: extinguis"	"<1y"	""	"poor vision or no pursuit of objects, night blindness"	""	""	""	""	""	"juvenile retinitis pigmentosa"	""	""
"0000300269"	"04214"	"00408140"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 7y, refraction: +3.00;+2.50; best corrected visual acuity right/left eye: 0.02 / 0.03; fundus changes: attenuated vessels, yellowish-white mottled degeneration in midperipheral retina, a few tiny pepper-powder like pigmentation, electroretinogram rods/cones: extinguish"	"4y"	""	"poor vision or no pursuit of objects, nystagmus"	""	""	""	""	""	"juvenile retinitis pigmentosa"	""	""
"0000300270"	"04214"	"00408141"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 25y; best corrected visual acuity right/left eye: hand motion / light perception; fundus changes: WPD, attenuated vessels, I"	"22y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000300271"	"04214"	"00408142"	"00000"	"Isolated (sporadic)"	""	"age at 1st exam: 5y, refraction: -8.50; -10.2"	""	""	"poor vision or no pursuit of objects"	""	""	""	""	""	"high myopia"	""	""
"0000300272"	"04214"	"00408143"	"00000"	"Familial, autosomal recessive"	""	"age at 1st exam: 3y5m, axial length: 24.38mm;23.9"	""	""	"poor vision or no pursuit of objects"	""	""	""	""	""	"high myopia"	""	""
"0000320560"	"00112"	"00429688"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320836"	"04210"	"00429964"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000331083"	"00112"	"00441668"	"04542"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336512"	"00198"	"00447313"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000348577"	"04214"	"00461077"	"00006"	"Familial, autosomal recessive"	""	""	"7y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""


## Screenings ## Do not remove or alter this header ##
## Count = 128
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000016565"	"00016612"	"1"	"00552"	"00552"	"2014-05-23 13:41:30"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000033189"	"00033121"	"1"	"00229"	"00229"	"2012-02-04 16:14:55"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033756"	"00033688"	"1"	"00243"	"00243"	"2015-01-23 06:09:51"	""	""	"SEQ"	"DNA"	""	""
"0000081116"	"00081004"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000156417"	"00155552"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000208508"	"00207470"	"1"	"01244"	"01244"	"2018-11-23 11:05:57"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208725"	"00207684"	"1"	"01244"	"01244"	"2018-11-27 16:58:06"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000234349"	"00233250"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234350"	"00233251"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234351"	"00233252"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234352"	"00233253"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234353"	"00233254"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234354"	"00233255"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234355"	"00233256"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234356"	"00233257"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234357"	"00233258"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234358"	"00233259"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234359"	"00233260"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234360"	"00233261"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234361"	"00233262"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234362"	"00233263"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234876"	"00233777"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234877"	"00233778"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234878"	"00233779"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234879"	"00233780"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000270743"	"00269586"	"1"	"03508"	"03508"	"2019-12-01 07:26:41"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270750"	"00269593"	"1"	"03508"	"03508"	"2019-12-01 08:29:47"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000292303"	"00291135"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310571"	"00309426"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310572"	"00309427"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310573"	"00309428"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000326624"	"00325413"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000333490"	"00332270"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333578"	"00332355"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333615"	"00332391"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333678"	"00332454"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000334689"	"00333464"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000334707"	"00333482"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000336399"	"00335170"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336628"	"00335399"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000360144"	"00358911"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360145"	"00358912"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360316"	"00359078"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360447"	"00359209"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000364876"	"00363648"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364879"	"00363651"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364880"	"00363652"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364885"	"00363657"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000369584"	"00368356"	"1"	"01695"	"01695"	"2021-05-03 14:25:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000373303"	"00372075"	"1"	"00000"	"00006"	"2021-05-06 19:05:11"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000373688"	"00372455"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373691"	"00372458"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373725"	"00372492"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373867"	"00372635"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373896"	"00372664"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373909"	"00372677"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373918"	"00372686"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373933"	"00372701"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373969"	"00372737"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000375129"	"00373897"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376607"	"00375410"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376616"	"00375419"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376640"	"00375443"	"1"	"00000"	"00006"	"2021-06-04 11:16:10"	""	""	"SEQ-NG"	"DNA"	""	"162-gene panel"
"0000377999"	"00376793"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378727"	"00377524"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378747"	"00377544"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000379088"	"00377884"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379089"	"00377885"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379100"	"00377896"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379101"	"00377897"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379109"	"00377905"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000380876"	"00379676"	"1"	"03508"	"03508"	"2021-08-06 09:28:43"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380968"	"00379767"	"1"	"03508"	"03508"	"2021-08-09 06:57:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381098"	"00379896"	"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"
"0000382050"	"00380836"	"1"	"00000"	"03840"	"2021-08-23 12:17:56"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"AmpliSeqTM Inherited Disease Panel covering 325 genes"
"0000382256"	"00381042"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382375"	"00381160"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382379"	"00381164"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382412"	"00381197"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382432"	"00381217"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382433"	"00381218"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382841"	"00381625"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382873"	"00381657"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000385210"	"00383985"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000385219"	"00383994"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385251"	"00384026"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385433"	"00384208"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000386292"	"00385063"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted next-generation sequencing/Sanger sequencing"
"0000388303"	"00387077"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388852"	"00387626"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389417"	"00388178"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389424"	"00388185"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000392810"	"00391568"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392811"	"00391569"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392958"	"00391717"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392959"	"00391718"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392960"	"00391719"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000394710"	"00393462"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395087"	"00393839"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395253"	"00394005"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	"blood"	"WES"
"0000395254"	"00394006"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;arraySNP;PCR;SEQ"	"DNA"	"blood"	"WES"
"0000395882"	"00394635"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000409330"	"00408075"	"1"	"00000"	"03840"	"2022-04-13 15:04:56"	""	""	"SEQ"	"DNA"	""	""
"0000409331"	"00408076"	"1"	"00000"	"03840"	"2022-04-13 15:04:56"	""	""	"SEQ"	"DNA"	""	""
"0000409332"	"00408077"	"1"	"00000"	"03840"	"2022-04-13 15:04:56"	""	""	"SEQ"	"DNA"	""	""
"0000409333"	"00408078"	"1"	"00000"	"03840"	"2022-04-13 15:04:56"	""	""	"SEQ"	"DNA"	""	""
"0000409334"	"00408079"	"1"	"00000"	"03840"	"2022-04-13 15:04:56"	""	""	"SEQ"	"DNA"	""	""
"0000409336"	"00408081"	"1"	"00000"	"03840"	"2022-04-13 19:19:00"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000409361"	"00408106"	"1"	"00000"	"03840"	"2022-04-13 19:47:52"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"panel of 286 syndromic and non-syndromic inherited retinal disease genes"
"0000409362"	"00408107"	"1"	"00000"	"03840"	"2022-04-13 19:47:52"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"panel of 286 syndromic and non-syndromic inherited retinal disease genes"
"0000409363"	"00408108"	"1"	"00000"	"03840"	"2022-04-13 20:36:02"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case study; clinical whole-exome sequencing"
"0000409387"	"00408132"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"whole exome sequencing"
"0000409388"	"00408133"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"targeted exome sequencing"
"0000409389"	"00408134"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"whole exome sequencing"
"0000409390"	"00408135"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ"	"DNA"	""	""
"0000409391"	"00408136"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ"	"DNA"	""	""
"0000409392"	"00408137"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"whole exome sequencing"
"0000409393"	"00408138"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"whole exome sequencing"
"0000409394"	"00408139"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"whole exome sequencing"
"0000409395"	"00408140"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"targeted exome sequencing"
"0000409396"	"00408141"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"targeted exome sequencing"
"0000409397"	"00408142"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ-NG"	"DNA"	""	"whole exome sequencing"
"0000409398"	"00408143"	"1"	"00000"	"03840"	"2022-04-14 16:40:13"	""	""	"SEQ"	"DNA"	""	""
"0000431101"	"00429688"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431377"	"00429964"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000443154"	"00441668"	"1"	"04542"	"00008"	"2023-11-09 09:55:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"Published as WGS"
"0000448890"	"00447313"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000462709"	"00461077"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 105
"{{screeningid}}"	"{{geneid}}"
"0000033189"	"SPATA7"
"0000033756"	"SPATA7"
"0000081116"	"SPATA7"
"0000156417"	"SPATA7"
"0000234349"	"SPATA7"
"0000234350"	"SPATA7"
"0000234351"	"SPATA7"
"0000234352"	"SPATA7"
"0000234353"	"SPATA7"
"0000234354"	"SPATA7"
"0000234355"	"SPATA7"
"0000234356"	"SPATA7"
"0000234357"	"SPATA7"
"0000234358"	"SPATA7"
"0000234359"	"SPATA7"
"0000234360"	"SPATA7"
"0000234361"	"SPATA7"
"0000234362"	"SPATA7"
"0000234876"	"SPATA7"
"0000234877"	"SPATA7"
"0000234878"	"SPATA7"
"0000234879"	"SPATA7"
"0000310571"	"SPATA7"
"0000310572"	"SPATA7"
"0000310573"	"SPATA7"
"0000326624"	"SPATA7"
"0000333490"	"SPATA7"
"0000333578"	"SPATA7"
"0000333615"	"CEP290"
"0000333678"	"SPATA7"
"0000334689"	"SPATA7"
"0000334707"	"SPATA7"
"0000336399"	"SPATA7"
"0000336628"	"SPATA7"
"0000360144"	"SPATA7"
"0000360145"	"SPATA7"
"0000364876"	"SPATA7"
"0000364879"	"SPATA7"
"0000364880"	"SPATA7"
"0000364885"	"SPATA7"
"0000369584"	"ABCA4"
"0000373303"	"SPATA7"
"0000373688"	"SPATA7"
"0000373691"	"SPATA7"
"0000373725"	"SPATA7"
"0000375129"	"SPATA7"
"0000376640"	"SPATA7"
"0000379088"	"SPATA7"
"0000379089"	"SPATA7"
"0000379100"	"SPATA7"
"0000379101"	"SPATA7"
"0000379109"	"GUCY2D"
"0000381098"	"SPATA7"
"0000382050"	"USH1C"
"0000382256"	"SPATA7"
"0000382375"	"USH2A"
"0000382379"	"USH2A"
"0000382412"	"SPATA7"
"0000382432"	"SPATA7"
"0000382433"	"SPATA7"
"0000382841"	"RDH12"
"0000382873"	"RP1"
"0000385210"	"SPATA7"
"0000385219"	"SPATA7"
"0000385251"	"SPATA7"
"0000385433"	"SPATA7"
"0000386292"	"SPATA7"
"0000388303"	"SPATA7"
"0000388852"	"SPATA7"
"0000389417"	"SPATA7"
"0000389424"	"SPATA7"
"0000392810"	"SPATA7"
"0000392811"	"SPATA7"
"0000392958"	"SPATA7"
"0000392959"	"SPATA7"
"0000392960"	"SPATA7"
"0000394710"	"SPATA7"
"0000395087"	"SPATA7"
"0000395253"	"SPATA7"
"0000395254"	"SPATA7"
"0000395882"	"SPATA7"
"0000409330"	"SPATA7"
"0000409331"	"SPATA7"
"0000409332"	"SPATA7"
"0000409333"	"SPATA7"
"0000409334"	"SPATA7"
"0000409336"	"SPATA7"
"0000409361"	"SPATA7"
"0000409362"	"SPATA7"
"0000409363"	"SPATA7"
"0000409387"	"SPATA7"
"0000409388"	"SPATA7"
"0000409389"	"SPATA7"
"0000409390"	"SPATA7"
"0000409391"	"SPATA7"
"0000409392"	"SPATA7"
"0000409393"	"SPATA7"
"0000409394"	"SPATA7"
"0000409395"	"SPATA7"
"0000409396"	"SPATA7"
"0000409397"	"SPATA7"
"0000409398"	"SPATA7"
"0000431101"	"SPATA7"
"0000431377"	"SPATA7"
"0000443154"	"SPATA7"


## 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 = 208
"{{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}}"
"0000036433"	"3"	"50"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00552"	"SPATA7_000004"	"g.88883069C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416725C>T"	""	"VUS"	""
"0000060530"	"2"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00229"	"SPATA7_000001"	"g.88883138C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416794C>T"	""	"pathogenic"	""
"0000060531"	"1"	"90"	"14"	"88852165"	"88852165"	"subst"	"4.82156E-5"	"00229"	"SPATA7_000002"	"g.88852165G>A"	""	"{PMID:Neveling 2012:22334370}"	""	"M1?"	""	"Germline"	""	""	"0"	""	""	"g.88385821G>A"	""	"pathogenic"	""
"0000060532"	"3"	"70"	"14"	"88895690"	"88895690"	"subst"	"0"	"00243"	"SPATA7_000003"	"g.88895690A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88429346A>G"	""	"likely pathogenic"	""
"0000130202"	"3"	"70"	"14"	"88883112"	"88883113"	"del"	"0"	"01758"	"SPATA7_000005"	"g.88883112_88883113del"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416768_88416769del"	""	"likely pathogenic"	"ACMG"
"0000247290"	"0"	"50"	"14"	"88892996"	"88892996"	"subst"	"8.21456E-6"	"02330"	"SPATA7_000017"	"g.88892996A>G"	""	""	""	"SPATA7(NM_018418.5):c.793A>G (p.K265E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426652A>G"	""	"VUS"	""
"0000255879"	"0"	"50"	"14"	"88893003"	"88893003"	"subst"	"4.11387E-6"	"01943"	"SPATA7_000018"	"g.88893003A>G"	""	""	""	"SPATA7(NM_018418.4):c.800A>G (p.D267G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426659A>G"	""	"VUS"	""
"0000296123"	"0"	"30"	"14"	"88904178"	"88904178"	"subst"	"6.76846E-5"	"02330"	"SPATA7_000021"	"g.88904178C>T"	""	""	""	"SPATA7(NM_018418.4):c.1216-4C>T, SPATA7(NM_018418.5):c.1216-4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88437834C>T"	""	"likely benign"	""
"0000296124"	"0"	"10"	"14"	"88892737"	"88892737"	"subst"	"4.47165E-5"	"02330"	"SPATA7_000009"	"g.88892737C>G"	""	""	""	"SPATA7(NM_018418.5):c.534C>G (p.S178=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426393C>G"	""	"benign"	""
"0000296125"	"0"	"30"	"14"	"88892932"	"88892932"	"subst"	"0.00245607"	"02330"	"SPATA7_000012"	"g.88892932C>T"	""	""	""	"SPATA7(NM_018418.4):c.729C>T (p.R243=), SPATA7(NM_018418.5):c.729C>T (p.R243=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426588C>T"	""	"likely benign"	""
"0000298448"	"0"	"10"	"14"	"88852283"	"88852283"	"del"	"0"	"02325"	"SPATA7_000007"	"g.88852283del"	""	""	""	"SPATA7(NM_018418.5):c.19+102delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88385939del"	""	"benign"	""
"0000298449"	"0"	"10"	"14"	"88852166"	"88852166"	"subst"	"0.330245"	"02325"	"SPATA7_000006"	"g.88852166G>A"	""	""	""	"SPATA7(NM_018418.4):c.4G>A (p.D2N), SPATA7(NM_018418.5):c.4G>A (p.D2N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88385822G>A"	""	"benign"	""
"0000308760"	"0"	"90"	"14"	"88903925"	"88903929"	"del"	"0"	"01943"	"SPATA7_000020"	"g.88903925_88903929del"	""	""	""	"SPATA7(NM_018418.4):c.1199_1203delATAAA (p.N400Tfs*31)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88437581_88437585del"	""	"pathogenic"	""
"0000308761"	"0"	"30"	"14"	"88904178"	"88904178"	"subst"	"6.76846E-5"	"01943"	"SPATA7_000021"	"g.88904178C>T"	""	""	""	"SPATA7(NM_018418.4):c.1216-4C>T, SPATA7(NM_018418.5):c.1216-4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88437834C>T"	""	"likely benign"	""
"0000308762"	"0"	"30"	"14"	"88904221"	"88904221"	"subst"	"0.00357968"	"01943"	"SPATA7_000022"	"g.88904221T>C"	""	""	""	"SPATA7(NM_018418.4):c.1255T>C (p.L419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88437877T>C"	""	"likely benign"	""
"0000308763"	"0"	"30"	"14"	"88892590"	"88892590"	"subst"	"0.000310996"	"01943"	"SPATA7_000008"	"g.88892590G>A"	""	""	""	"SPATA7(NM_018418.4):c.387G>A (p.P129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426246G>A"	""	"likely benign"	""
"0000308764"	"0"	"90"	"14"	"88852165"	"88852165"	"subst"	"4.82156E-5"	"01943"	"SPATA7_000002"	"g.88852165G>A"	""	""	""	"SPATA7(NM_018418.4):c.3G>A (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88385821G>A"	""	"pathogenic"	""
"0000308765"	"0"	"10"	"14"	"88852166"	"88852166"	"subst"	"0.330245"	"01943"	"SPATA7_000006"	"g.88852166G>A"	""	""	""	"SPATA7(NM_018418.4):c.4G>A (p.D2N), SPATA7(NM_018418.5):c.4G>A (p.D2N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88385822G>A"	""	"benign"	""
"0000308767"	"0"	"90"	"14"	"88892902"	"88892903"	"del"	"0"	"01943"	"SPATA7_000011"	"g.88892902_88892903del"	""	""	""	"SPATA7(NM_018418.4):c.699_700delTT (p.S234*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426558_88426559del"	""	"pathogenic"	""
"0000308768"	"0"	"30"	"14"	"88892932"	"88892932"	"subst"	"0.00245607"	"01943"	"SPATA7_000012"	"g.88892932C>T"	""	""	""	"SPATA7(NM_018418.4):c.729C>T (p.R243=), SPATA7(NM_018418.5):c.729C>T (p.R243=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426588C>T"	""	"likely benign"	""
"0000341704"	"0"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"02327"	"SPATA7_000001"	"g.88883138C>T"	""	""	""	"SPATA7(NM_018418.5):c.322C>T (p.R108*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88416794C>T"	""	"pathogenic"	""
"0000342793"	"0"	"90"	"14"	"88903897"	"88903897"	"subst"	"0"	"02327"	"SPATA7_000014"	"g.88903897C>T"	""	""	""	"SPATA7(NM_018418.5):c.1171C>T (p.R391*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88437553C>T"	""	"pathogenic"	""
"0000343422"	"0"	"90"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"02327"	"SPATA7_000004"	"g.88883069C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88416725C>T"	""	"pathogenic"	""
"0000344044"	"0"	"10"	"14"	"88852166"	"88852166"	"subst"	"0.330245"	"02327"	"SPATA7_000006"	"g.88852166G>A"	""	""	""	"SPATA7(NM_018418.4):c.4G>A (p.D2N), SPATA7(NM_018418.5):c.4G>A (p.D2N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88385822G>A"	""	"benign"	""
"0000347138"	"0"	"50"	"14"	"88903901"	"88903901"	"subst"	"0"	"02327"	"SPATA7_000015"	"g.88903901T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88437557T>C"	""	"VUS"	""
"0000347717"	"0"	"90"	"14"	"88852165"	"88852165"	"subst"	"4.82156E-5"	"02327"	"SPATA7_000002"	"g.88852165G>A"	""	""	""	"SPATA7(NM_018418.4):c.3G>A (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88385821G>A"	""	"pathogenic"	""
"0000348848"	"0"	"90"	"14"	"88892902"	"88892903"	"del"	"0"	"02327"	"SPATA7_000011"	"g.88892902_88892903del"	""	""	""	"SPATA7(NM_018418.4):c.699_700delTT (p.S234*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88426558_88426559del"	""	"pathogenic"	""
"0000358339"	"3"	"90"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"01243"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416760T>A"	""	"pathogenic (recessive)"	""
"0000438378"	"1"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"01244"	"SPATA7_000001"	"g.88883138C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88416794C>T"	""	"pathogenic"	""
"0000438379"	"2"	"90"	"14"	"88892834"	"88892834"	"del"	"0"	"01244"	"SPATA7_000023"	"g.88892834del"	""	""	""	"631delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.88426490del"	""	"pathogenic (recessive)"	""
"0000438668"	"1"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"01244"	"SPATA7_000001"	"g.88883138C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416794C>T"	""	"pathogenic"	""
"0000438669"	"2"	"90"	"14"	"88892902"	"88892903"	"del"	"0"	"01244"	"SPATA7_000024"	"g.88892902_88892903del"	""	""	""	"699_700delTT"	""	"Germline"	""	""	"0"	""	""	"g.88426558_88426559del"	""	"pathogenic"	""
"0000477057"	"0"	"10"	"14"	"88852166"	"88852166"	"subst"	"0.330245"	"02591"	"SPATA7_000006"	"g.88852166G>A"	"122/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs4904448"	"0"	""	""	"g.88385822G>A"	""	"benign"	""
"0000477058"	"0"	"50"	"14"	"88857725"	"88857728"	"del"	"0"	"02591"	"SPATA7_000025"	"g.88857725_88857728del"	"28/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236050"	"0"	""	""	"g.88391381_88391384del"	""	"VUS"	""
"0000477059"	"0"	"10"	"14"	"88862529"	"88862529"	"subst"	"0.336167"	"02591"	"SPATA7_000026"	"g.88862529G>A"	"475/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs3179969"	"0"	""	""	"g.88396185G>A"	""	"benign"	""
"0000477060"	"0"	"50"	"14"	"88892813"	"88892813"	"subst"	"4.47267E-5"	"02591"	"SPATA7_000027"	"g.88892813A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs766703283"	"0"	""	""	"g.88426469A>G"	""	"VUS"	""
"0000477061"	"0"	"50"	"14"	"88892933"	"88892933"	"subst"	"0"	"02591"	"SPATA7_000028"	"g.88892933A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88426589A>G"	""	"VUS"	""
"0000477062"	"0"	"50"	"14"	"88892954"	"88892954"	"subst"	"0"	"02591"	"SPATA7_000029"	"g.88892954T>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88426610T>G"	""	"VUS"	""
"0000477063"	"0"	"90"	"14"	"88893049"	"88893049"	"subst"	"4.18638E-6"	"02591"	"SPATA7_000030"	"g.88893049G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs761981554"	"0"	""	""	"g.88426705G>A"	""	"pathogenic"	""
"0000477064"	"0"	"50"	"14"	"88894018"	"88894018"	"subst"	"2.44596E-5"	"02591"	"SPATA7_000031"	"g.88894018A>T"	"8/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs769211713"	"0"	""	""	"g.88427674A>T"	""	"VUS"	""
"0000477065"	"0"	"50"	"14"	"88895708"	"88895708"	"subst"	"0.000114029"	"02591"	"SPATA7_000032"	"g.88895708C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs767454994"	"0"	""	""	"g.88429364C>T"	""	"VUS"	""
"0000477066"	"0"	"50"	"14"	"88897520"	"88897520"	"subst"	"0.00013411"	"02591"	"SPATA7_000033"	"g.88897520A>G"	"16/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs375371982"	"0"	""	""	"g.88431176A>G"	""	"VUS"	""
"0000477067"	"0"	"50"	"14"	"88897544"	"88897544"	"subst"	"0"	"02591"	"SPATA7_000034"	"g.88897544C>G"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88431200C>G"	""	"VUS"	""
"0000477068"	"0"	"50"	"14"	"88904419"	"88904419"	"subst"	"0"	"02591"	"SPATA7_000035"	"g.88904419T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88438075T>C"	""	"VUS"	""
"0000477069"	"0"	"50"	"14"	"88904442"	"88904442"	"subst"	"4.88257E-5"	"02591"	"SPATA7_000036"	"g.88904442C>A"	"10/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs750676893"	"0"	""	""	"g.88438098C>A"	""	"VUS"	""
"0000477070"	"0"	"10"	"14"	"88904567"	"88904567"	"subst"	"0.0120302"	"02591"	"SPATA7_000037"	"g.88904567G>A"	"63/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs10139784"	"0"	""	""	"g.88438223G>A"	""	"benign"	""
"0000477584"	"3"	"10"	"14"	"88852166"	"88852166"	"subst"	"0.330245"	"02591"	"SPATA7_000006"	"g.88852166G>A"	"6/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs4904448"	"0"	""	""	"g.88385822G>A"	""	"benign"	""
"0000477585"	"3"	"50"	"14"	"88857725"	"88857728"	"del"	"0"	"02591"	"SPATA7_000025"	"g.88857725_88857728del"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236050"	"0"	""	""	"g.88391381_88391384del"	""	"VUS"	""
"0000477586"	"3"	"10"	"14"	"88862529"	"88862529"	"subst"	"0.336167"	"02591"	"SPATA7_000026"	"g.88862529G>A"	"98/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs3179969"	"0"	""	""	"g.88396185G>A"	""	"benign"	""
"0000477587"	"3"	"10"	"14"	"88904567"	"88904567"	"subst"	"0.0120302"	"02591"	"SPATA7_000037"	"g.88904567G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs10139784"	"0"	""	""	"g.88438223G>A"	""	"benign"	""
"0000553259"	"0"	"30"	"14"	"88857762"	"88857762"	"subst"	"9.34648E-5"	"01943"	"SPATA7_000038"	"g.88857762G>T"	""	""	""	"SPATA7(NM_018418.4):c.57G>T (p.P19=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88391418G>T"	""	"likely benign"	""
"0000553260"	"0"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"02330"	"SPATA7_000001"	"g.88883138C>T"	""	""	""	"SPATA7(NM_018418.5):c.322C>T (p.R108*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88416794C>T"	""	"pathogenic"	""
"0000553261"	"0"	"50"	"14"	"88892585"	"88892585"	"subst"	"5.32237E-5"	"02327"	"SPATA7_000039"	"g.88892585G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88426241G>A"	""	"VUS"	""
"0000553262"	"0"	"50"	"14"	"88897520"	"88897520"	"subst"	"0.00013411"	"02330"	"SPATA7_000033"	"g.88897520A>G"	""	""	""	"SPATA7(NM_018418.5):c.1033A>G (p.M345V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88431176A>G"	""	"VUS"	""
"0000553263"	"0"	"10"	"14"	"88899462"	"88899462"	"subst"	"0.000118792"	"02330"	"SPATA7_000040"	"g.88899462T>C"	""	""	""	"SPATA7(NM_018418.5):c.1083-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88433118T>C"	""	"benign"	""
"0000553264"	"0"	"50"	"14"	"88899508"	"88899508"	"subst"	"0.000285558"	"01943"	"SPATA7_000041"	"g.88899508T>C"	""	""	""	"SPATA7(NM_018418.4):c.1112T>C (p.I371T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88433164T>C"	""	"VUS"	""
"0000604556"	"21"	"50"	"14"	"88892591"	"88892591"	"subst"	"8.17214E-6"	"03508"	"SPATA7_000042"	"g.88892591C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88426247C>T"	""	"pathogenic (recessive)"	""
"0000604557"	"11"	"50"	"14"	"88899557"	"88899557"	"subst"	"0"	"03508"	"SPATA7_000044"	"g.88899557G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88433213G>A"	""	"pathogenic (recessive)"	""
"0000604572"	"0"	"50"	"14"	"88892591"	"88892591"	"subst"	"8.17214E-6"	"03508"	"SPATA7_000042"	"g.88892591C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88426247C>T"	""	"likely pathogenic (recessive)"	""
"0000604573"	"0"	"50"	"14"	"88892860"	"88892860"	"del"	"0"	"03508"	"SPATA7_000043"	"g.88892860del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88426516del"	""	"likely pathogenic (recessive)"	""
"0000615124"	"0"	"30"	"14"	"88904677"	"88904677"	"subst"	"2.04379E-5"	"01943"	"SPATA7_000046"	"g.88904677A>G"	""	""	""	"SPATA7(NM_018418.4):c.1711A>G (p.S571G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88438333A>G"	""	"likely benign"	""
"0000623176"	"0"	"50"	"14"	"88862534"	"88862534"	"subst"	"0"	"01943"	"SPATA7_000045"	"g.88862534T>A"	""	""	""	"SPATA7(NM_018418.4):c.225T>A (p.S75R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88396190T>A"	""	"VUS"	""
"0000648992"	"1"	"70"	"14"	"88857801"	"88857801"	"subst"	"0"	"03575"	"SPATA7_000047"	"g.88857801T>C"	"1/2781 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs786204787}"	"Germline"	""	"rs786204787"	"0"	""	""	"g.88391457T>C"	""	"likely pathogenic"	""
"0000657504"	"0"	"50"	"14"	"88904563"	"88904563"	"subst"	"0"	"01943"	"SPATA7_000048"	"g.88904563G>T"	""	""	""	"SPATA7(NM_018418.4):c.1597G>T (p.D533Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88438219G>T"	""	"VUS"	""
"0000685482"	"0"	"90"	"14"	"0"	"0"	""	"0"	"00004"	"SERPINA1_000009"	"g.?"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"NM_018418.5:c.-162_372del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685483"	"3"	"90"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00004"	"SPATA7_000016"	"g.88883104T>A"	"1/2420 IRD families"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685484"	"0"	"90"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00004"	"SPATA7_000016"	"g.88883104T>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000710216"	"3"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00006"	"SPATA7_000001"	"g.88883138C>T"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416794C>T"	""	"pathogenic"	""
"0000731144"	"1"	"90"	"14"	"88892903"	"88892903"	"dup"	"0"	"00000"	"SPATA7_000050"	"g.88892903dup"	""	"{PMID:Porto 2017:29186038}"	""	"697dupT"	""	"Germline"	""	""	"0"	""	""	"g.88426559dup"	""	"pathogenic (recessive)"	""
"0000731170"	"2"	"90"	"14"	"88892911"	"88892914"	"del"	"0"	"00000"	"SPATA7_000049"	"g.88892911_88892914del"	""	"{PMID:Porto 2017:29186038}"	""	"703_706del"	""	"Germline"	""	""	"0"	""	""	"g.88426567_88426570del"	""	"pathogenic (recessive)"	""
"0000731254"	"3"	"70"	"14"	"88892966"	"88892966"	"subst"	"0"	"00000"	"SPATA7_000051"	"g.88892966C>T"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88426622C>T"	""	"likely pathogenic (recessive)"	""
"0000731346"	"21"	"90"	"14"	"88857725"	"88857728"	"del"	"0"	"00006"	"SPATA7_000025"	"g.88857725_88857728del"	""	"{PMID:Han 2017:28966547}"	""	"20_23delTCAG"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000731427"	"1"	"70"	"14"	"88893049"	"88893049"	"del"	"0"	"00000"	"SPATA7_000052"	"g.88893049del"	""	"{PMID:DiIorio 2017:29053603}"	""	"NM_001040428:c.749+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.88426705del"	""	"likely pathogenic (recessive)"	""
"0000731451"	"2"	"70"	"14"	"88903937"	"88903937"	"subst"	"0"	"00000"	"SPATA7_000053"	"g.88903937A>G"	""	"{PMID:DiIorio 2017:29053603}"	""	"NM_001040428:c.1115A>G"	""	"Germline"	""	""	"0"	""	""	"g.88437593A>G"	""	"likely pathogenic (recessive)"	""
"0000732669"	"1"	"70"	"14"	"88903941"	"88903941"	"subst"	"4.09018E-6"	"00000"	"SPATA7_000056"	"g.88903941G>T"	""	"{PMID:Soens 2017:28714225}"	""	"NM_001040428.3:c.1119G>T"	"r.(del-exon) effect on splicing predicted from mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.88437597G>T"	""	"likely pathogenic"	""
"0000732687"	"1"	"70"	"14"	"88852181"	"88852181"	"subst"	"0"	"00000"	"SPATA7_000054"	"g.88852181G>A"	""	"{PMID:Soens 2017:28714225}"	""	"NM_001040428.3:c.19G>A"	"effect on splicing predicted from mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.88385837G>A"	""	"likely pathogenic"	""
"0000732694"	"2"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Soens 2017:28714225}"	""	"NM_001040428.3:c.1087C>T"	""	"Germline"	""	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000732695"	"2"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Soens 2017:28714225}"	""	"NM_001040428.3:c.1087C>T"	""	"Germline"	""	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000735674"	"0"	"90"	"14"	"88852181"	"88852181"	"subst"	"0"	"00000"	"SPATA7_000057"	"g.88852181G>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88385837G>T"	""	"pathogenic"	""
"0000735772"	"0"	"90"	"14"	"88903897"	"88903897"	"subst"	"0"	"00000"	"SPATA7_000014"	"g.88903897C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88437553C>T"	""	"pathogenic"	""
"0000736073"	"1"	"70"	"14"	"88859831"	"88859831"	"del"	"0"	"00000"	"SPATA7_000058"	"g.88859831del"	""	"{PMID:Huang 2018:29641573}"	""	"c.187_187delA"	""	"Germline"	""	""	"0"	""	""	"g.88393487del"	""	"likely pathogenic"	""
"0000736123"	"2"	"70"	"14"	"88883061"	"88883061"	"dup"	"0"	"00000"	"SPATA7_000059"	"g.88883061dup"	""	"{PMID:Huang 2018:29641573}"	""	"c.244_245insA"	""	"Germline"	""	""	"0"	""	""	"g.88416717dup"	""	"likely pathogenic"	""
"0000759842"	"1"	"70"	"14"	"88892976"	"88892976"	"del"	"0"	"00000"	"SPATA7_000060"	"g.88892976del"	""	"{PMID:Wang 2016:27422788}"	""	"c.773delC p.A258fs"	""	"Germline"	""	""	"0"	""	""	"g.88426632del"	""	"likely pathogenic"	""
"0000759843"	"1"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C1183T p.R395X"	""	"Germline"	""	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000759874"	"2"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Wang 2016:27422788}"	""	"c.C271T p.Q91X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000759875"	"2"	"70"	"14"	"88897566"	"88897567"	"del"	"0"	"00000"	"SPATA7_000062"	"g.88897566_88897567del"	""	"{PMID:Wang 2016:27422788}"	""	"c.1077_1078del p.Y359fs"	""	"Germline"	""	""	"0"	""	""	"g.88431222_88431223del"	""	"likely pathogenic"	""
"0000760208"	"0"	"50"	"14"	"88904207"	"88904218"	"del"	"0"	"00000"	"SPATA7_000063"	"g.88904207_88904218del"	""	"{PMID:Ellingford 2016:27208204}"	""	"1241_1252delTCCTGAAAGTAG"	""	"Germline"	""	""	"0"	""	""	"g.88437863_88437874del"	""	"VUS"	""
"0000760339"	"3"	"70"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416725C>T"	""	"likely pathogenic"	""
"0000760444"	"0"	"50"	"14"	"88897545"	"88897545"	"dup"	"0"	"00000"	"SPATA7_000061"	"g.88897545dup"	""	"{PMID:Ellingford 2016:27208204}"	""	"1058dupC"	""	"Germline"	""	""	"0"	""	""	"g.88431201dup"	""	"VUS"	""
"0000765818"	"0"	"70"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00000"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416760T>A"	""	"likely pathogenic"	""
"0000765821"	"0"	"70"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00000"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416760T>A"	""	"likely pathogenic"	""
"0000765822"	"0"	"70"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00000"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416760T>A"	""	"likely pathogenic"	""
"0000765827"	"0"	"70"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00000"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416760T>A"	""	"likely pathogenic"	""
"0000783275"	"3"	"90"	"14"	"88895690"	"88895690"	"subst"	"0"	"00000"	"SPATA7_000003"	"g.88895690A>G"	""	"{PMID:Srilekha 2015:26147992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88429346A>G"	""	"pathogenic (recessive)"	""
"0000783836"	"1"	"90"	"14"	"88883157"	"88883157"	"del"	"0"	"00000"	"SPATA7_000064"	"g.88883157del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416813del"	""	"pathogenic"	""
"0000783839"	"3"	"90"	"14"	"88904180"	"88904180"	"subst"	"0"	"00000"	"SPATA7_000066"	"g.88904180A>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88437836A>T"	""	"pathogenic"	""
"0000783873"	"2"	"50"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88437565C>T"	""	"VUS"	""
"0000783933"	"2"	"90"	"14"	"88892575"	"88892575"	"subst"	"0"	"00000"	"SPATA7_000065"	"g.88892575G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88426231G>A"	""	"pathogenic"	""
"0000783965"	"1"	"50"	"14"	"88903941"	"88903941"	"subst"	"4.09018E-6"	"00000"	"SPATA7_000056"	"g.88903941G>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88437597G>T"	""	"VUS"	""
"0000784139"	"0"	"70"	"14"	"88904699"	"88904699"	"subst"	"1.22975E-5"	"00000"	"SPATA7_000070"	"g.88904699A>G"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88438355A>G"	""	"likely pathogenic (recessive)"	""
"0000784222"	"1"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00000"	"SPATA7_000001"	"g.88883138C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416794C>T"	""	"pathogenic (recessive)"	""
"0000784282"	"0"	"50"	"14"	"88904264"	"88904264"	"subst"	"0"	"00000"	"SPATA7_000069"	"g.88904264T>C"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88437920T>C"	""	"VUS"	""
"0000784452"	"0"	"50"	"14"	"88883168"	"88883168"	"subst"	"4.08898E-6"	"00000"	"SPATA7_000067"	"g.88883168C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416824C>T"	""	"VUS"	""
"0000784510"	"0"	"50"	"14"	"88895774"	"88895774"	"subst"	"3.25518E-5"	"00000"	"SPATA7_000068"	"g.88895774T>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88429430T>C"	""	"VUS"	""
"0000784556"	"0"	"50"	"14"	"88895708"	"88895708"	"subst"	"0.000114029"	"00000"	"SPATA7_000032"	"g.88895708C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88429364C>T"	""	"VUS"	""
"0000784566"	"0"	"50"	"14"	"88895774"	"88895774"	"subst"	"3.25518E-5"	"00000"	"SPATA7_000068"	"g.88895774T>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88429430T>C"	""	"VUS"	""
"0000784588"	"2"	"90"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88437565C>T"	""	"pathogenic (recessive)"	""
"0000786424"	"1"	"90"	"14"	"88899498"	"88899499"	"del"	"0"	"00000"	"SPATA7_000072"	"g.88899498_88899499del"	""	"{PMID:Consugar 2015:25412400}"	""	"1102_1103delCT"	""	"Germline"	"yes"	""	"0"	""	""	"g.88433154_88433155del"	""	"pathogenic (recessive)"	""
"0000786483"	"2"	"90"	"14"	"88892690"	"88892690"	"subst"	"0"	"00000"	"SPATA7_000071"	"g.88892690A>T"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88426346A>T"	""	"pathogenic (recessive)"	""
"0000788368"	"0"	"50"	"14"	"88904442"	"88904442"	"subst"	"4.88257E-5"	"00000"	"SPATA7_000036"	"g.88904442C>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"C1476A"	""	"Germline"	""	""	"0"	""	""	"g.88438098C>A"	""	"VUS"	""
"0000788418"	"0"	"50"	"14"	"88897520"	"88897520"	"subst"	"0.00013411"	"00000"	"SPATA7_000033"	"g.88897520A>G"	""	"{PMID:Katagiri 2014:25268133}"	""	"A1033G"	""	"Germline"	""	"rs375371982"	"0"	""	""	"g.88431176A>G"	""	"VUS"	""
"0000788533"	"3"	"90"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Watson 2014:25133751}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88416725C>T"	""	"pathogenic"	""
"0000790635"	"0"	"50"	"14"	"88883182"	"88883182"	"subst"	"0.000409685"	"00000"	"SPATA7_000073"	"g.88883182A>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs150093878"	"0"	""	""	"g.88416838A>T"	""	"VUS"	""
"0000791613"	"0"	"50"	"14"	"88894018"	"88894018"	"subst"	"2.44596E-5"	"00000"	"SPATA7_000031"	"g.88894018A>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.890A>T"	"single heterozygous variant in a recessive gene, probably not causative in the patient"	"Germline"	"no"	"rs769211713"	"0"	""	""	"g.88427674A>T"	""	"VUS"	"ACMG"
"0000791638"	"0"	"50"	"14"	"88894018"	"88894018"	"subst"	"2.44596E-5"	"00000"	"SPATA7_000031"	"g.88894018A>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.890A>T"	"single heterozygous variant in a recessive gene, probably not causative in the patient"	"Germline"	"no"	"rs769211713"	"0"	""	""	"g.88427674A>T"	""	"VUS"	"ACMG"
"0000792154"	"3"	"90"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1183C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792155"	"3"	"90"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"1183C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792156"	"0"	"90"	"14"	"88883183"	"88883183"	"subst"	"4.09648E-6"	"00000"	"SPATA7_000075"	"g.88883183C>T"	"2/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"c.367C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792157"	"0"	"90"	"14"	"88892586"	"88892589"	"del"	"0"	"00000"	"SERPINA1_000009"	"g.88892586_88892589delATAG"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"c.383_386delATAG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792170"	"0"	"90"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000074"	"g.88857725_88857728delTCAG"	"2/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"20_23delTCAG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792171"	"0"	"50"	"14"	"88895774"	"88895774"	"subst"	"3.25518E-5"	"00000"	"SPATA7_000068"	"g.88895774T>C"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"995T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000792184"	"0"	"10"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000074"	"g.88857725_88857728delTCAG"	"2/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"20_23delTCAG"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000794106"	"0"	"70"	"14"	"88892591"	"88892591"	"subst"	"8.17214E-6"	"03508"	"SPATA7_000042"	"g.88892591C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000794107"	"0"	"70"	"14"	"88892860"	"88892860"	"del"	"0"	"03508"	"SPATA7_000043"	"g.88892860del"	""	""	""	"657delA"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88426516del"	""	"pathogenic"	"ACMG"
"0000794224"	"0"	"70"	"14"	"88892591"	"88892591"	"subst"	"8.17214E-6"	"03508"	"SPATA7_000042"	"g.88892591C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000794225"	"0"	"70"	"14"	"88857725"	"88857728"	"del"	"0"	"03508"	"SPATA7_000025"	"g.88857725_88857728del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88391381_88391384del"	""	"pathogenic"	"ACMG"
"0000794396"	"0"	"90"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000025"	"g.88857725_88857728del"	""	"{PMID:Wang 2018:30029497}"	""	"NM_018418.4:c.20_23delTCAG, NP_060888.2:p.(Val7GlufsTer19), NC_000014.8:g.88857725_88857728delTCAG"	""	"Germline"	"?"	""	"0"	""	""	"g.88391381_88391384del"	""	"pathogenic"	"ACMG"
"0000794397"	"0"	"90"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_018418.4:c.253C>T, NP_060888.2:p.(Arg85Ter), NC_000014.8:g.88883069C>T"	""	"Germline"	"?"	""	"0"	""	""	"g.88416725C>T"	""	"pathogenic"	"ACMG"
"0000795704"	"0"	"50"	"14"	"88892972"	"88892972"	"subst"	"1.2276E-5"	"00000"	"SPATA7_000076"	"g.88892972C>T"	""	"{PMID:Ivanova 2018:30358468}"	""	"c.C769T; p.R257C"	""	"Germline"	"?"	""	"0"	""	""	"g.88426628C>T"	""	"pathogenic"	""
"0000795991"	"0"	"30"	"14"	"88904356"	"88904356"	"subst"	"4.06908E-6"	"00000"	"SPATA7_000081"	"g.88904356C>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.1390C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000796160"	"0"	"10"	"14"	"88903909"	"88903909"	"subst"	"0"	"00000"	"SPATA7_000078"	"g.88903909A>G"	""	"{PMID:Nishiguchi-2013:24043777}"	""	"c.1183A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000796165"	"0"	"50"	"14"	"88897528"	"88897528"	"subst"	"0"	"00000"	"SPATA7_000077"	"g.88897528A>T"	""	"{PMID:Nishiguchi-2013:24043777}"	""	"c.1041A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000796215"	"3"	"90"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00000"	"SPATA7_000001"	"g.88883138C>T"	""	"{PMID:Wang-2013:23847139}"	""	"c.322C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796247"	"3"	"90"	"14"	"88904181"	"88904181"	"subst"	"0"	"00000"	"SPATA7_000079"	"g.88904181G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1216-1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796248"	"3"	"90"	"14"	"88904339"	"88904339"	"del"	"8.13809E-6"	"00000"	"SPATA7_000080"	"g.88904339del"	""	"{PMID:Wang-2013:23847139}"	""	"c.1373del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796730"	"0"	"70"	"14"	"88852165"	"88852165"	"subst"	"4.82156E-5"	"00000"	"SPATA7_000002"	"g.88852165G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.3G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796813"	"0"	"70"	"14"	"88899508"	"88899508"	"subst"	"0.000285558"	"00000"	"SPATA7_000041"	"g.88899508T>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1112T>C"	""	"Germline"	""	"rs150364664"	"0"	""	""	""	""	"likely pathogenic"	""
"0000806525"	"0"	"50"	"14"	"88883061"	"88883061"	"subst"	"7.74057E-5"	"01943"	"SPATA7_000082"	"g.88883061A>G"	""	""	""	"SPATA7(NM_018418.4):c.245A>G (p.D82G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806526"	"0"	"30"	"14"	"88903948"	"88903948"	"subst"	"0.000490561"	"01943"	"SPATA7_000083"	"g.88903948C>A"	""	""	""	"SPATA7(NM_018418.4):c.1215+7C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000812133"	"3"	"70"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"SPATA7 Ex.5 c.253C>T  p.(Arg85*), Ex.5 c.253C>T  p.(Arg85*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416725C>T"	""	"likely pathogenic"	""
"0000812146"	"3"	"70"	"14"	"88862548"	"88862548"	"subst"	"4.06782E-6"	"00000"	"SPATA7_000084"	"g.88862548G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"SPATA7 IVS4 c.238+1G>A  p.(?), IVS4 c.238+1G>A  p.(?)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88396204G>A"	""	"likely pathogenic"	""
"0000812198"	"3"	"70"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"SPATA7 Ex.5 c.253C>T  p.(Arg85*), Ex.5 c.253C>T  p.(Arg85*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416725C>T"	""	"likely pathogenic"	""
"0000812481"	"3"	"70"	"14"	"88892709"	"88892709"	"del"	"0"	"00000"	"SPATA7_000085"	"g.88892709del"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.506del, p.(Thr169Lysfs*25)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88426365del"	""	"likely pathogenic"	""
"0000813699"	"0"	"90"	"14"	"88857725"	"88857726"	"del"	"0"	"00000"	"SPATA7_000086"	"g.88857725_88857726del"	""	"{PMID:Xu 2020:31630094}"	""	"SPATA7 NM_018418: g.6458_6459delTC, c.20_21delTC, p.V7Efs16"	""	"Unknown"	"?"	""	"0"	""	""	"g.88391381_88391382del"	""	"pathogenic"	"ACMG"
"0000816763"	"3"	"70"	"14"	"88904204"	"88904204"	"subst"	"0.000517496"	"00000"	"SPATA7_000087"	"g.88904204A>G"	""	"{PMID:Jauregui 2020:32098976}"	""	"SPATA7 c.1238A>G, p.H413R"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88437860A>G"	""	"likely pathogenic"	""
"0000817629"	"0"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Zanolli 2020:32141364}"	""	"SPATA7 c.1183C>T"	"no protein change given, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000818463"	"21"	"90"	"14"	"88892591"	"88892591"	"subst"	"8.17214E-6"	"00000"	"SPATA7_000042"	"g.88892591C>T"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.388C>T:p.(Gln130*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88426247C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818464"	"11"	"90"	"14"	"88899557"	"88899557"	"subst"	"0"	"00000"	"SPATA7_000044"	"g.88899557G>A"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.1160+1G>A:p.?"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88433213G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818480"	"21"	"70"	"14"	"88892591"	"88892591"	"subst"	"8.17214E-6"	"00000"	"SPATA7_000042"	"g.88892591C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.388C>T:p.(Glu130*)"	"error in annotation: c.388C>T causes p.(Gln130*) and not  p.(Glu130*), compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88426247C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818481"	"21"	"70"	"14"	"88892860"	"88892860"	"del"	"0"	"00000"	"SPATA7_000043"	"g.88892860del"	""	"{PMID:Surl 2020:32165824}"	""	"c.655del:p.(Ala220Hisfs*26)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88426516del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000823245"	"3"	"50"	"14"	"88892941"	"88892942"	"dup"	"0"	"00000"	"SPATA7_000089"	"g.88892941_88892942dup"	""	"{PMID:Hull 2020:32856788}"	""	"SPATA7 nucleotide 1, protein 1:c.738_739dupAA, p.Thr247Lysfs*27"	"error in annotation: c.738_739dup causes p.(Thr247Lysfs*28) and not p.(Thr247Lysfs*27), homozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.88426597_88426598dup"	""	"VUS"	""
"0000823246"	"3"	"70"	"14"	"88895807"	"88895807"	"subst"	"0"	"00000"	"SPATA7_000090"	"g.88895807G>A"	""	"{PMID:Hull 2020:32856788}"	""	"SPATA7 nucleotide 1, protein 1:c.1028G>A, p.Arg343Lys"	"homozygous, ACMG classified, novel (Table 2)"	"Germline"	"?"	""	"0"	""	""	"g.88429463G>A"	""	"likely pathogenic"	"ACMG"
"0000823427"	"0"	"70"	"14"	"88892911"	"88892914"	"del"	"0"	"00000"	"SPATA7_000049"	"g.88892911_88892914del"	""	"{PMID:Sallum 2020:32865313}"	""	"SPATA7 c.708_711deIACAA; p.Lys236AsnfsTer9"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88426567_88426570del"	""	"likely pathogenic"	"ACMG"
"0000823428"	"0"	"70"	"14"	"88892902"	"88892903"	"del"	"0"	"00000"	"SPATA7_000011"	"g.88892902_88892903del"	""	"{PMID:Sallum 2020:32865313}"	""	"SPATA7 c.699_700deITT; p.Ser234Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88426558_88426559del"	""	"likely pathogenic"	"ACMG"
"0000823429"	"0"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Sallum 2020:32865313}"	""	"SPATA7 Exon 1-11 deletion; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000823533"	"0"	"70"	"14"	"88892903"	"88892903"	"dup"	"0"	"00000"	"SPATA7_000050"	"g.88892903dup"	""	"{PMID:Sallum 2020:32865313}"	""	"SPATA7 c.700dupT; p.Ser234PhefsTer2"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88426559dup"	""	"likely pathogenic"	"ACMG"
"0000823535"	"0"	"70"	"14"	"88852170"	"88852195"	"del"	"0"	"00000"	"SPATA7_000088"	"g.88852170_88852195del"	""	"{PMID:Sallum 2020:32865313}"	""	"SPATA7 c.8_19+14deI; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88385826_88385851del"	""	"likely pathogenic"	"ACMG"
"0000825698"	"0"	"70"	"14"	"88857723"	"88857726"	"del"	"0"	"00000"	"SPATA7_000091"	"g.88857723_88857726delAGTC"	""	"{PMID:Liu-2020:33090715}"	""	"c.20-2_21delAGTC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825699"	"0"	"70"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.253C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826276"	"0"	"70"	"14"	"88857725"	"88857726"	"del"	"0"	"00000"	"SPATA7_000086"	"g.88857725_88857726del"	""	"{PMID:Liu-2020:33090715}"	""	"c.20_21delTC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826277"	"0"	"70"	"14"	"88893997"	"88893997"	"del"	"0"	"00000"	"SPATA7_000093"	"g.88893997del"	""	"{PMID:Liu-2020:33090715}"	""	"c.869delC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826512"	"3"	"90"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"00000"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Salmaninejad-202:33173045}"	""	"c.253C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000826513"	"3"	"90"	"14"	"88883066"	"88883066"	"subst"	"0"	"00000"	"SPATA7_000092"	"g.88883066C>T"	""	"{PMID:Salmaninejad-202:33173045}"	""	"c.250C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000827334"	"3"	"90"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00000"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.288T>A"	""	"Germline"	"yes"	"rs767745816"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000846480"	"11"	"70"	"14"	"88903886"	"88903886"	"subst"	"4.07637E-6"	"00000"	"SPATA7_000098"	"g.88903886G>C"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.1161-1G>C , Splice"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437542G>C"	""	"likely pathogenic"	""
"0000846481"	"11"	"70"	"14"	"88903886"	"88903886"	"subst"	"4.07637E-6"	"00000"	"SPATA7_000098"	"g.88903886G>C"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.1161-1G>C , Splice"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437542G>C"	""	"likely pathogenic"	""
"0000846482"	"3"	"70"	"14"	"88893049"	"88893049"	"subst"	"4.18638E-6"	"00000"	"SPATA7_000030"	"g.88893049G>A"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.845+1G>A , Splice"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88426705G>A"	""	"likely pathogenic"	""
"0000846483"	"10"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.1983C>T , p.R395X"	"error in annotation; p.R395X is caused by c.1183C>T and not c.1983C>T; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000846484"	"21"	"70"	"14"	"88852165"	"88852165"	"subst"	"8.76647E-6"	"00000"	"SPATA7_000094"	"g.88852165G>T"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.3G>T , p.M1I"	"single heterozygous variant, no second allele found"	"Germline"	"yes"	""	"0"	""	""	"g.88385821G>T"	""	"likely pathogenic"	""
"0000846485"	"21"	"70"	"14"	"88892966"	"88892966"	"subst"	"0"	"00000"	"SPATA7_000051"	"g.88892966C>T"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.763C>T , p.Q255X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88426622C>T"	""	"likely pathogenic"	""
"0000846486"	"21"	"70"	"14"	"88892966"	"88892966"	"subst"	"0"	"00000"	"SPATA7_000051"	"g.88892966C>T"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.763C>T , p.Q255X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88426622C>T"	""	"likely pathogenic"	""
"0000846487"	"21"	"70"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00000"	"SPATA7_000001"	"g.88883138C>T"	""	"{PMID:Perrault 2010:20104588}"	""	"SPATA7 c.322C>T, p.R108X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416794C>T"	""	"likely pathogenic"	""
"0000846490"	"3"	"70"	"14"	"88883104"	"88883104"	"subst"	"2.4399E-5"	"00000"	"SPATA7_000016"	"g.88883104T>A"	""	"{PMID:Alabdullatif 2017:27717089}"	""	"SPATA7 c.288T>A, (p.Cys96*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416760T>A"	""	"likely pathogenic"	""
"0000846515"	"3"	"70"	"14"	"88899508"	"88899508"	"subst"	"0.000285558"	"00000"	"SPATA7_000041"	"g.88899508T>C"	""	"{PMID:Feldhaus 2018:28481129}"	""	"SPATA7 c.1112T>C, p.I371T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88433164T>C"	""	"likely pathogenic"	""
"0000846516"	"3"	"70"	"14"	"88899508"	"88899508"	"subst"	"0.000285558"	"00000"	"SPATA7_000041"	"g.88899508T>C"	""	"{PMID:Feldhaus 2018:28481129}"	""	"SPATA7 c.1112T>C, p.I371T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88433164T>C"	""	"likely pathogenic"	""
"0000846517"	"1"	"70"	"14"	"88899496"	"88899496"	"subst"	"2.44764E-5"	"00000"	"SPATA7_000097"	"g.88899496A>G"	""	"{PMID:Sengillo 2018:29411205}"	""	"SPATA7 c.1100A>G, p.(Y367C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88433152A>G"	""	"likely pathogenic"	""
"0000846518"	"2"	"70"	"14"	"88899498"	"88899499"	"del"	"0"	"00000"	"SPATA7_000072"	"g.88899498_88899499del"	""	"{PMID:Sengillo 2018:29411205}"	""	"SPATA7 c.1102_1103delCT, p.(L368Efs*4)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88433154_88433155del"	""	"likely pathogenic"	""
"0000846543"	"3"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.1183C>T, p.R395*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000846544"	"1"	"70"	"14"	"88883183"	"88883183"	"subst"	"4.09648E-6"	"00000"	"SPATA7_000075"	"g.88883183C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.367C>T, p.Q123*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416839C>T"	""	"likely pathogenic"	""
"0000846545"	"3"	"70"	"14"	"88892847"	"88892850"	"del"	"0"	"00000"	"SPATA7_000095"	"g.88892847_88892850del"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.644_647delTAGT, p.L215Sfs*30"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88426503_88426506del"	""	"likely pathogenic"	""
"0000846546"	"3"	"70"	"14"	"88892847"	"88892850"	"del"	"0"	"00000"	"SPATA7_000095"	"g.88892847_88892850del"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.644_647delTAGT, p.L215Sfs*30"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88426503_88426506del"	""	"likely pathogenic"	""
"0000846547"	"3"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.1183C>T, p.R395*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000846548"	"3"	"70"	"14"	"88883183"	"88883183"	"subst"	"4.09648E-6"	"00000"	"SPATA7_000075"	"g.88883183C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.367C>T, p.Q123*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416839C>T"	""	"likely pathogenic"	""
"0000846549"	"3"	"70"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00000"	"SPATA7_000001"	"g.88883138C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.322C>T, p.R108*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416794C>T"	""	"likely pathogenic"	""
"0000846550"	"1"	"70"	"14"	"88883138"	"88883138"	"subst"	"2.84977E-5"	"00000"	"SPATA7_000001"	"g.88883138C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.322C>T, p.R108*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88416794C>T"	""	"likely pathogenic"	""
"0000846551"	"1"	"70"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000025"	"g.88857725_88857728del"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.20_23delTCAG, p.V7Efs*19"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88391381_88391384del"	""	"likely pathogenic"	""
"0000846552"	"1"	"70"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000025"	"g.88857725_88857728del"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.20_23delTCAG, p.V7Efs*19"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88391381_88391384del"	""	"likely pathogenic"	""
"0000846553"	"3"	"70"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000025"	"g.88857725_88857728del"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.20_23delTCAG, p.V7Efs*19"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88391381_88391384del"	""	"likely pathogenic"	""
"0000846554"	"3"	"70"	"14"	"88857725"	"88857728"	"del"	"0"	"00000"	"SPATA7_000025"	"g.88857725_88857728del"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.20_23delTCAG, p.V7Efs*19"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88391381_88391384del"	""	"likely pathogenic"	""
"0000846555"	"2"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.1183C>T, p.R395*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000846556"	"2"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.1183C>T, p.R395*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000846557"	"2"	"70"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00000"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.1183C>T, p.R395*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88437565C>T"	""	"likely pathogenic"	""
"0000846558"	"2"	"70"	"14"	"88899477"	"88899477"	"subst"	"0"	"00000"	"SPATA7_000096"	"g.88899477A>G"	""	"{PMID:Xiao 2019:31908400}"	""	"SPATA7 c.1083-2A>G, p.splicing"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88433133A>G"	""	"likely pathogenic"	""
"0000853909"	"0"	"70"	"14"	"88852165"	"88852165"	"subst"	"8.76647E-6"	"02327"	"SPATA7_000094"	"g.88852165G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000853910"	"0"	"50"	"14"	"88852181"	"88852181"	"subst"	"0"	"02327"	"SPATA7_000057"	"g.88852181G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853911"	"0"	"30"	"14"	"88862516"	"88862516"	"subst"	"0.000186948"	"01943"	"SPATA7_000099"	"g.88862516G>A"	""	""	""	"SPATA7(NM_018418.4):c.207G>A (p.S69=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863702"	"0"	"30"	"14"	"88895799"	"88895799"	"subst"	"0.000138447"	"02330"	"SPATA7_000100"	"g.88895799C>T"	""	""	""	"SPATA7(NM_018418.5):c.1020C>T (p.S340=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863703"	"0"	"50"	"14"	"88904566"	"88904566"	"subst"	"1.22138E-5"	"01943"	"SPATA7_000101"	"g.88904566C>T"	""	""	""	"SPATA7(NM_018418.4):c.1600C>T (p.R534W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000891919"	"0"	"30"	"14"	"88859848"	"88859848"	"subst"	"0.000243103"	"02330"	"SPATA7_000102"	"g.88859848T>C"	""	""	""	"SPATA7(NM_018418.5):c.190+16T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891920"	"0"	"30"	"14"	"88904274"	"88904274"	"subst"	"4.07E-6"	"02330"	"SPATA7_000103"	"g.88904274G>A"	""	""	""	"SPATA7(NM_018418.5):c.1308G>A (p.L436=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916066"	"3"	"90"	"14"	"88883069"	"88883069"	"subst"	"7.32827E-5"	"04436"	"SPATA7_000004"	"g.88883069C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.253C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916498"	"3"	"70"	"14"	"88904181"	"88904181"	"subst"	"0"	"04436"	"SPATA7_000079"	"g.88904181G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1216-1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000925925"	"0"	"90"	"14"	"88903897"	"88903897"	"subst"	"0"	"02330"	"SPATA7_000014"	"g.88903897C>T"	""	""	""	"SPATA7(NM_018418.5):c.1171C>T (p.R391*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000944542"	"1"	"70"	"14"	"88894390"	"88895702"	"del"	"0"	"04542"	"SPATA7_000104"	"g.88894390_88895702del"	""	"{PMID:De Bruijn 2023:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88428046_88429358del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000955398"	"2"	"90"	"14"	"88892902"	"88892903"	"del"	"0"	"00006"	"SPATA7_000011"	"g.88892902_88892903del"	""	"{PMID:de Bruijn 2023:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88426558_88426559del"	""	"pathogenic (recessive)"	"ACMG"
"0000958376"	"0"	"90"	"14"	"88903909"	"88903909"	"subst"	"4.8942E-5"	"00006"	"SPATA7_000055"	"g.88903909C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_STRONG, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.88437565C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000958658"	"0"	"70"	"14"	"88852165"	"88852165"	"subst"	"4.82156E-5"	"00006"	"SPATA7_000002"	"g.88852165G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_MODERATE, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.88385821G>A"	"844972"	"likely pathogenic (recessive)"	"ACMG"
"0001022260"	"3"	"90"	"14"	"88899498"	"88899499"	"del"	"0"	"00006"	"SPATA7_000072"	"g.88899498_88899499del"	""	"{PMID:Midgley 2024:39676705}"	""	"1102_1103delCT"	""	"Germline"	""	"rs777069665"	"0"	""	""	"g.88433154_88433155del"	""	"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 SPATA7
## Count = 208
"{{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}}"
"0000036433"	"00024022"	"50"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85*)"	""
"0000060530"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	"5"
"0000060531"	"00024022"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.0?"	"1"
"0000060532"	"00024022"	"70"	"913"	"-2"	"913"	"-2"	"c.913-2A>G"	"r.spl?"	"p.?"	"7i"
"0000130202"	"00024022"	"70"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Glu99Valfs*5)"	""
"0000247290"	"00024022"	"50"	"793"	"0"	"793"	"0"	"c.793A>G"	"r.(?)"	"p.(Lys265Glu)"	""
"0000255879"	"00024022"	"50"	"800"	"0"	"800"	"0"	"c.800A>G"	"r.(?)"	"p.(Asp267Gly)"	""
"0000296123"	"00024022"	"30"	"1216"	"-4"	"1216"	"-4"	"c.1216-4C>T"	"r.spl?"	"p.?"	""
"0000296124"	"00024022"	"10"	"534"	"0"	"534"	"0"	"c.534C>G"	"r.(?)"	"p.(Ser178=)"	""
"0000296125"	"00024022"	"30"	"729"	"0"	"729"	"0"	"c.729C>T"	"r.(?)"	"p.(Arg243=)"	""
"0000298448"	"00024022"	"10"	"19"	"102"	"19"	"102"	"c.19+102del"	"r.(=)"	"p.(=)"	""
"0000298449"	"00024022"	"10"	"4"	"0"	"4"	"0"	"c.4G>A"	"r.(?)"	"p.(Asp2Asn)"	""
"0000308760"	"00024022"	"90"	"1199"	"0"	"1203"	"0"	"c.1199_1203del"	"r.(?)"	"p.(Asn400ThrfsTer31)"	""
"0000308761"	"00024022"	"30"	"1216"	"-4"	"1216"	"-4"	"c.1216-4C>T"	"r.spl?"	"p.?"	""
"0000308762"	"00024022"	"30"	"1255"	"0"	"1255"	"0"	"c.1255T>C"	"r.(?)"	"p.(Leu419=)"	""
"0000308763"	"00024022"	"30"	"387"	"0"	"387"	"0"	"c.387G>A"	"r.(?)"	"p.(Pro129=)"	""
"0000308764"	"00024022"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000308765"	"00024022"	"10"	"4"	"0"	"4"	"0"	"c.4G>A"	"r.(?)"	"p.(Asp2Asn)"	""
"0000308767"	"00024022"	"90"	"699"	"0"	"700"	"0"	"c.699_700del"	"r.(?)"	"p.(Ser234Ter)"	""
"0000308768"	"00024022"	"30"	"729"	"0"	"729"	"0"	"c.729C>T"	"r.(?)"	"p.(Arg243=)"	""
"0000341704"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108Ter)"	""
"0000342793"	"00024022"	"90"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.(Arg391Ter)"	""
"0000343422"	"00024022"	"90"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85Ter)"	""
"0000344044"	"00024022"	"10"	"4"	"0"	"4"	"0"	"c.4G>A"	"r.(?)"	"p.(Asp2Asn)"	""
"0000347138"	"00024022"	"50"	"1175"	"0"	"1175"	"0"	"c.1175T>C"	"r.(?)"	"p.(Leu392Pro)"	""
"0000347717"	"00024022"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000348848"	"00024022"	"90"	"699"	"0"	"700"	"0"	"c.699_700del"	"r.(?)"	"p.(Ser234Ter)"	""
"0000358339"	"00024022"	"90"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96*)"	"5"
"0000438378"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	"5"
"0000438379"	"00024022"	"90"	"631"	"0"	"631"	"0"	"c.631del"	"r.(?)"	"p.(His211Thrfs*5)"	"6"
"0000438668"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000438669"	"00024022"	"90"	"699"	"0"	"700"	"0"	"c.699_700del"	"r.(?)"	"p.(Ser234*)"	""
"0000477057"	"00024022"	"10"	"4"	"0"	"4"	"0"	"c.4G>A"	"r.(?)"	"p.(Asp2Asn)"	""
"0000477058"	"00024022"	"50"	"20"	"0"	"23"	"0"	"c.20_23del"	"r.(?)"	"p.(Val7GlufsTer19)"	""
"0000477059"	"00024022"	"10"	"220"	"0"	"220"	"0"	"c.220G>A"	"r.(?)"	"p.(Val74Met)"	""
"0000477060"	"00024022"	"50"	"610"	"0"	"610"	"0"	"c.610A>G"	"r.(?)"	"p.(Arg204Gly)"	""
"0000477061"	"00024022"	"50"	"730"	"0"	"730"	"0"	"c.730A>G"	"r.(?)"	"p.(Thr244Ala)"	""
"0000477062"	"00024022"	"50"	"751"	"0"	"751"	"0"	"c.751T>G"	"r.(?)"	"p.(Ser251Ala)"	""
"0000477063"	"00024022"	"90"	"845"	"1"	"845"	"1"	"c.845+1G>A"	"r.spl?"	"p.?"	""
"0000477064"	"00024022"	"50"	"890"	"0"	"890"	"0"	"c.890A>T"	"r.(?)"	"p.(Asp297Val)"	""
"0000477065"	"00024022"	"50"	"929"	"0"	"929"	"0"	"c.929C>T"	"r.(?)"	"p.(Thr310Ile)"	""
"0000477066"	"00024022"	"50"	"1033"	"0"	"1033"	"0"	"c.1033A>G"	"r.(?)"	"p.(Met345Val)"	""
"0000477067"	"00024022"	"50"	"1057"	"0"	"1057"	"0"	"c.1057C>G"	"r.(?)"	"p.(Pro353Ala)"	""
"0000477068"	"00024022"	"50"	"1453"	"0"	"1453"	"0"	"c.1453T>C"	"r.(?)"	"p.(Phe485Leu)"	""
"0000477069"	"00024022"	"50"	"1476"	"0"	"1476"	"0"	"c.1476C>A"	"r.(?)"	"p.(Phe492Leu)"	""
"0000477070"	"00024022"	"10"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.(?)"	"p.(Arg534Gln)"	""
"0000477584"	"00024022"	"10"	"4"	"0"	"4"	"0"	"c.4G>A"	"r.(?)"	"p.(Asp2Asn)"	""
"0000477585"	"00024022"	"50"	"20"	"0"	"23"	"0"	"c.20_23del"	"r.(?)"	"p.(Val7GlufsTer19)"	""
"0000477586"	"00024022"	"10"	"220"	"0"	"220"	"0"	"c.220G>A"	"r.(?)"	"p.(Val74Met)"	""
"0000477587"	"00024022"	"10"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.(?)"	"p.(Arg534Gln)"	""
"0000553259"	"00024022"	"30"	"57"	"0"	"57"	"0"	"c.57G>T"	"r.(?)"	"p.(Pro19=)"	""
"0000553260"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108Ter)"	""
"0000553261"	"00024022"	"50"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Glu128Lys)"	""
"0000553262"	"00024022"	"50"	"1033"	"0"	"1033"	"0"	"c.1033A>G"	"r.(?)"	"p.(Met345Val)"	""
"0000553263"	"00024022"	"10"	"1083"	"-17"	"1083"	"-17"	"c.1083-17T>C"	"r.(=)"	"p.(=)"	""
"0000553264"	"00024022"	"50"	"1112"	"0"	"1112"	"0"	"c.1112T>C"	"r.(?)"	"p.(Ile371Thr)"	""
"0000604556"	"00024022"	"50"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Gln130*)"	"6"
"0000604557"	"00024022"	"50"	"1160"	"1"	"1160"	"1"	"c.1160+1G>A"	"r.spl"	"p.?"	""
"0000604572"	"00024022"	"50"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Gln130*)"	"6"
"0000604573"	"00024022"	"50"	"657"	"0"	"657"	"0"	"c.657del"	"r.(?)"	"p.(Ala220Hisfs*26)"	"6"
"0000615124"	"00024022"	"30"	"1711"	"0"	"1711"	"0"	"c.1711A>G"	"r.(?)"	"p.(Ser571Gly)"	""
"0000623176"	"00024022"	"50"	"225"	"0"	"225"	"0"	"c.225T>A"	"r.(?)"	"p.(Ser75Arg)"	""
"0000648992"	"00024022"	"70"	"94"	"2"	"94"	"2"	"c.94+2T>C"	"r.spl?"	"p.?"	""
"0000657504"	"00024022"	"50"	"1597"	"0"	"1597"	"0"	"c.1597G>T"	"r.(?)"	"p.(Asp533Tyr)"	""
"0000685482"	"00024022"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.0?"	""
"0000685483"	"00024022"	"90"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96*)"	""
"0000685484"	"00024022"	"90"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96*)"	""
"0000710216"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000731144"	"00024022"	"90"	"700"	"0"	"700"	"0"	"c.700dup"	"r.(?)"	"p.(Ser234Phefs*2)"	""
"0000731170"	"00024022"	"90"	"708"	"0"	"711"	"0"	"c.708_711del"	"r.(?)"	"p.(Lys236Asnfs*9)"	""
"0000731254"	"00024022"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	""
"0000731346"	"00024022"	"90"	"20"	"0"	"23"	"0"	"c.20_23del"	"r.(?)"	"p.(Val7Glufs*19)"	""
"0000731427"	"00024022"	"70"	"845"	"1"	"845"	"1"	"c.845+1del"	"r.spl"	"p.?"	""
"0000731451"	"00024022"	"70"	"1211"	"0"	"1211"	"0"	"c.1211A>G"	"r.(?)"	"p.(Glu404Gly)"	""
"0000732669"	"00024022"	"70"	"1215"	"0"	"1215"	"0"	"c.1215G>T"	"r.(?)"	"p.(Glu405Asp)"	""
"0000732687"	"00024022"	"70"	"19"	"0"	"19"	"0"	"c.19G>A"	"r.(?)"	"p.(Val7Ile)"	""
"0000732694"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000732695"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000735674"	"00024022"	"90"	"19"	"0"	"19"	"0"	"c.19G>T"	"r.spl?"	"p.?"	""
"0000735772"	"00024022"	"90"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.(Arg391*)"	""
"0000736073"	"00024022"	"70"	"189"	"0"	"189"	"0"	"c.189del"	"r.(?)"	"p.(Ala64Leufs*3)"	""
"0000736123"	"00024022"	"70"	"245"	"0"	"245"	"0"	"c.245dup"	"r.(?)"	"p.(Asp82Glufs*16)"	""
"0000759842"	"00024022"	"70"	"773"	"0"	"773"	"0"	"c.773del"	"r.(?)"	"p.(Tyr258PhefsTer16)"	""
"0000759843"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395Ter)"	""
"0000759874"	"00024022"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000759875"	"00024022"	"70"	"1079"	"0"	"1080"	"0"	"c.1079_1080del"	"r.(?)"	"p.(Ser360Ter)"	""
"0000760208"	"00024022"	"50"	"1241"	"0"	"1252"	"0"	"c.1241_1252del"	"r.(?)"	"p.(Val414_Val417del)"	""
"0000760339"	"00024022"	"70"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85*)"	""
"0000760444"	"00024022"	"50"	"1058"	"0"	"1058"	"0"	"c.1058dup"	"r.(?)"	"p.(Ser354Phefs*4)"	""
"0000765818"	"00024022"	"70"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96Ter)"	""
"0000765821"	"00024022"	"70"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96Ter)"	""
"0000765822"	"00024022"	"70"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96Ter)"	""
"0000765827"	"00024022"	"70"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96Ter)"	""
"0000783275"	"00024022"	"90"	"913"	"-2"	"913"	"-2"	"c.913-2A>G"	"r.spl"	"p.?"	"7i"
"0000783836"	"00024022"	"90"	"341"	"0"	"341"	"0"	"c.341del"	"r.(?)"	"p.(Asn114IlefsTer23)"	""
"0000783839"	"00024022"	"90"	"1216"	"-2"	"1216"	"-2"	"c.1216-2A>T"	"r.spl"	"p.?"	""
"0000783873"	"00024022"	"50"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395Ter)"	""
"0000783933"	"00024022"	"90"	"373"	"-1"	"373"	"-1"	"c.373-1G>A"	"r.spl"	"p.?"	""
"0000783965"	"00024022"	"50"	"1215"	"0"	"1215"	"0"	"c.1215G>T"	"r.(?)"	"p.(Glu405Asp)"	""
"0000784139"	"00024022"	"70"	"1733"	"0"	"1733"	"0"	"c.1733A>G"	"r.(?)"	"p.(His578Arg)"	""
"0000784222"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108Ter)"	""
"0000784282"	"00024022"	"50"	"1298"	"0"	"1298"	"0"	"c.1298T>C"	"r.(?)"	"p.(Val433Ala)"	""
"0000784452"	"00024022"	"50"	"352"	"0"	"352"	"0"	"c.352C>T"	"r.(?)"	"p.(Leu118Phe)"	""
"0000784510"	"00024022"	"50"	"995"	"0"	"995"	"0"	"c.995T>C"	"r.(?)"	"p.(Ile332Thr)"	""
"0000784556"	"00024022"	"50"	"929"	"0"	"929"	"0"	"c.929C>T"	"r.(?)"	"p.(Thr310Ile)"	""
"0000784566"	"00024022"	"50"	"995"	"0"	"995"	"0"	"c.995T>C"	"r.(?)"	"p.(Ile332Thr)"	""
"0000784588"	"00024022"	"90"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395Ter)"	""
"0000786424"	"00024022"	"90"	"1102"	"0"	"1103"	"0"	"c.1102_1103del"	"r.(?)"	"p.(Leu368GlufsTer4)"	""
"0000786483"	"00024022"	"90"	"487"	"0"	"487"	"0"	"c.487A>T"	"r.(?)"	"p.(Lys163Ter)"	""
"0000788368"	"00024022"	"50"	"1476"	"0"	"1476"	"0"	"c.1476C>A"	"r.(?)"	"p.(Phe492Leu)"	"12"
"0000788418"	"00024022"	"50"	"1033"	"0"	"1033"	"0"	"c.1033A>G"	"r.(?)"	"p.(Met345Val)"	"9"
"0000788533"	"00024022"	"90"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85Ter)"	""
"0000790635"	"00024022"	"50"	"366"	"0"	"366"	"0"	"c.366A>T"	"r.(?)"	"p.(Leu122Phe)"	""
"0000791613"	"00024022"	"50"	"890"	"0"	"890"	"0"	"c.890A>T"	"r.(?)"	"p.(Asp297Val)"	"7"
"0000791638"	"00024022"	"50"	"890"	"0"	"890"	"0"	"c.890A>T"	"r.(?)"	"p.(Asp297Val)"	"7"
"0000792154"	"00024022"	"90"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(His395Tyr)"	"11"
"0000792155"	"00024022"	"90"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(His395Tyr)"	"11"
"0000792156"	"00024022"	"90"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(His123Tyr)"	"5"
"0000792157"	"00024022"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"5"
"0000792170"	"00024022"	"90"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	"4"
"0000792171"	"00024022"	"50"	"995"	"0"	"995"	"0"	"c.995T>C"	"r.(?)"	"p.(Ile332Thr)"	"11"
"0000792184"	"00024022"	"10"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	"4"
"0000794106"	"00024022"	"70"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Gln130*)"	""
"0000794107"	"00024022"	"70"	"657"	"0"	"657"	"0"	"c.657del"	"r.(?)"	"p.(Ala220Hisfs*26)"	""
"0000794224"	"00024022"	"70"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Gln130*)"	""
"0000794225"	"00024022"	"70"	"20"	"0"	"23"	"0"	"c.20_23del"	"r.(?)"	"p.(Val7Glufs*19)"	""
"0000794396"	"00024022"	"90"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	"2"
"0000794397"	"00024022"	"90"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85*)"	"5"
"0000795704"	"00024022"	"50"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Arg257Cys)"	"6"
"0000795991"	"00024022"	"30"	"1390"	"0"	"1390"	"0"	"c.1390C>A"	"r.(?)"	"p.(Arg464Ser)"	"11"
"0000796160"	"00024022"	"10"	"1183"	"0"	"1183"	"0"	"c.1183A>G"	"r.?"	"p.?"	"11"
"0000796165"	"00024022"	"50"	"1041"	"0"	"1041"	"0"	"c.1041A>T"	"r.(?)"	"p.(Leu347Phe)"	"11"
"0000796215"	"00024022"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Gln108*)"	"5"
"0000796247"	"00024022"	"90"	"1216"	"-1"	"1216"	"-1"	"c.1216-1G>A"	"r.?"	"p.?"	"10i"
"0000796248"	"00024022"	"90"	"1373"	"0"	"1373"	"0"	"c.1373del"	"r.(?)"	"p.(Ser459Profs*27)"	"11"
"0000796730"	"00024022"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.?"	"p.?"	"4"
"0000796813"	"00024022"	"70"	"1112"	"0"	"1112"	"0"	"c.1112T>C"	"r.(?)"	"p.(Ile371Thr)"	"11"
"0000806525"	"00024022"	"50"	"245"	"0"	"245"	"0"	"c.245A>G"	"r.(?)"	"p.(Asp82Gly)"	""
"0000806526"	"00024022"	"30"	"1215"	"7"	"1215"	"7"	"c.1215+7C>A"	"r.(=)"	"p.(=)"	""
"0000812133"	"00024022"	"70"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85*)"	"5"
"0000812146"	"00024022"	"70"	"238"	"1"	"238"	"1"	"c.238+1G>A"	"r.(?)"	"p.(?)"	"4i"
"0000812198"	"00024022"	"70"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85*)"	"5"
"0000812481"	"00024022"	"70"	"506"	"0"	"506"	"0"	"c.506del"	"r.(?)"	"p.(Thr169Lysfs*25)"	"6"
"0000813699"	"00024022"	"90"	"20"	"0"	"21"	"0"	"c.20_21delTC"	"r.(?)"	"p.(Val7Glufs*16)"	""
"0000816763"	"00024022"	"70"	"1238"	"0"	"1238"	"0"	"c.1238A>G"	"r.(?)"	"p.(His413Arg)"	""
"0000817629"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395Ter)"	""
"0000818463"	"00024022"	"90"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Gln130*)"	""
"0000818464"	"00024022"	"90"	"1160"	"1"	"1160"	"1"	"c.1160+1G>A"	"r.spl"	"p.(?)"	""
"0000818480"	"00024022"	"70"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Gln130*)"	""
"0000818481"	"00024022"	"70"	"655"	"0"	"655"	"0"	"c.655del"	"r.(?)"	"p.(Ala220Hisfs*26)"	""
"0000823245"	"00024022"	"50"	"738"	"0"	"739"	"0"	"c.738_739dup"	"r.(?)"	"p.(Thr247Lysfs*28)"	""
"0000823246"	"00024022"	"70"	"1028"	"0"	"1028"	"0"	"c.1028G>A"	"r.(?)"	"p.(Arg343Lys)"	""
"0000823427"	"00024022"	"70"	"708"	"0"	"711"	"0"	"c.708_711del"	"r.(?)"	"p.(Lys236Asnfs*9)"	""
"0000823428"	"00024022"	"70"	"699"	"0"	"700"	"0"	"c.699_700del"	"r.(?)"	"p.(Ser234*)"	""
"0000823429"	"00024022"	"70"	"-175"	"-1"	"1215"	"1"	"c.(?_-175-1)_(1215+1_1216-1)del"	"r.spl"	"p.(?)"	""
"0000823533"	"00024022"	"70"	"700"	"0"	"700"	"0"	"c.700dup"	"r.(?)"	"p.(Ser234Phefs*2)"	""
"0000823535"	"00024022"	"70"	"8"	"0"	"19"	"14"	"c.8_19+14del"	"r.spl"	"p.(?)"	""
"0000825698"	"00024022"	"70"	"20"	"-2"	"21"	"0"	"c.20-2_21delAGTC"	"r.(?)"	"p.?"	"3i_4"
"0000825699"	"00024022"	"70"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85Trp)"	"5"
"0000826276"	"00024022"	"70"	"20"	"0"	"21"	"0"	"c.20_21del"	"r.(?)"	"p.(Asn7Lysfs*7)"	"4"
"0000826277"	"00024022"	"70"	"869"	"0"	"869"	"0"	"c.869del"	"r.(?)"	"p.(Arg290Hisfs*3)"	"10"
"0000826512"	"00024022"	"90"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85Trp)"	"5"
"0000826513"	"00024022"	"90"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Pro84Ser)"	"5"
"0000827334"	"00024022"	"90"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96*)"	"5"
"0000846480"	"00024022"	"70"	"1161"	"-1"	"1161"	"-1"	"c.1161-1G>C"	"r.(?)"	"p.(?)"	""
"0000846481"	"00024022"	"70"	"1161"	"-1"	"1161"	"-1"	"c.1161-1G>C"	"r.(?)"	"p.(?)"	""
"0000846482"	"00024022"	"70"	"845"	"1"	"845"	"1"	"c.845+1G>A"	"r.(?)"	"p.(?)"	""
"0000846483"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000846484"	"00024022"	"70"	"3"	"0"	"3"	"0"	"c.3G>T"	"r.(?)"	"p.(Met1?)"	""
"0000846485"	"00024022"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	""
"0000846486"	"00024022"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Gln255*)"	""
"0000846487"	"00024022"	"70"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000846490"	"00024022"	"70"	"288"	"0"	"288"	"0"	"c.288T>A"	"r.(?)"	"p.(Cys96*)"	""
"0000846515"	"00024022"	"70"	"1112"	"0"	"1112"	"0"	"c.1112T>C"	"r.(?)"	"p.(Ile371Thr)"	""
"0000846516"	"00024022"	"70"	"1112"	"0"	"1112"	"0"	"c.1112T>C"	"r.(?)"	"p.(Ile371Thr)"	""
"0000846517"	"00024022"	"70"	"1100"	"0"	"1100"	"0"	"c.1100A>G"	"r.(?)"	"p.(Tyr367Cys)"	""
"0000846518"	"00024022"	"70"	"1102"	"0"	"1103"	"0"	"c.1102_1103delCT"	"r.(?)"	"p.(Leu368Glufs*4)"	""
"0000846543"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000846544"	"00024022"	"70"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	""
"0000846545"	"00024022"	"70"	"644"	"0"	"647"	"0"	"c.644_647delTAGT"	"r.(?)"	"p.(Leu215Serfs*30)"	""
"0000846546"	"00024022"	"70"	"644"	"0"	"647"	"0"	"c.644_647delTAGT"	"r.(?)"	"p.(Leu215Serfs*30)"	""
"0000846547"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000846548"	"00024022"	"70"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	""
"0000846549"	"00024022"	"70"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000846550"	"00024022"	"70"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000846551"	"00024022"	"70"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	""
"0000846552"	"00024022"	"70"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	""
"0000846553"	"00024022"	"70"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	""
"0000846554"	"00024022"	"70"	"20"	"0"	"23"	"0"	"c.20_23delTCAG"	"r.(?)"	"p.(Val7Glufs*19)"	""
"0000846555"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000846556"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000846557"	"00024022"	"70"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395*)"	""
"0000846558"	"00024022"	"70"	"1083"	"-2"	"1083"	"-2"	"c.1083-2A>G"	"r.spl"	"p.(?)"	""
"0000853909"	"00024022"	"70"	"3"	"0"	"3"	"0"	"c.3G>T"	"r.(?)"	"p.(Met1?)"	""
"0000853910"	"00024022"	"50"	"19"	"0"	"19"	"0"	"c.19G>T"	"r.(?)"	"p.(Val7Phe)"	""
"0000853911"	"00024022"	"30"	"207"	"0"	"207"	"0"	"c.207G>A"	"r.(?)"	"p.(Ser69=)"	""
"0000863702"	"00024022"	"30"	"1020"	"0"	"1020"	"0"	"c.1020C>T"	"r.(?)"	"p.(Ser340=)"	""
"0000863703"	"00024022"	"50"	"1600"	"0"	"1600"	"0"	"c.1600C>T"	"r.(?)"	"p.(Arg534Trp)"	""
"0000891919"	"00024022"	"30"	"190"	"16"	"190"	"16"	"c.190+16T>C"	"r.(=)"	"p.(=)"	""
"0000891920"	"00024022"	"30"	"1308"	"0"	"1308"	"0"	"c.1308G>A"	"r.(?)"	"p.(Leu436=)"	""
"0000916066"	"00024022"	"90"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85*)"	"5"
"0000916498"	"00024022"	"70"	"1216"	"-1"	"1216"	"-1"	"c.1216-1G>A"	"r.spl?"	"p.(?)"	"10i"
"0000925925"	"00024022"	"90"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.(Arg391Ter)"	""
"0000944542"	"00024022"	"70"	"912"	"350"	"923"	"0"	"c.912+350_923del"	"r.?"	"p.?"	"10i_11"
"0000955398"	"00024022"	"90"	"699"	"0"	"700"	"0"	"c.699_700del"	"r.(?)"	"p.(Ser234*)"	""
"0000958376"	"00024022"	"90"	"1183"	"0"	"1183"	"0"	"c.1183C>T"	"r.(?)"	"p.(Arg395Ter)"	""
"0000958658"	"00024022"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0001022260"	"00024022"	"90"	"1102"	"0"	"1103"	"0"	"c.1102_1103del"	"r.(?)"	"p.(Leu368GlufsTer4)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 167
"{{screeningid}}"	"{{variantid}}"
"0000016565"	"0000036433"
"0000033189"	"0000060530"
"0000033189"	"0000060531"
"0000033756"	"0000060532"
"0000081116"	"0000130202"
"0000156417"	"0000358339"
"0000208508"	"0000438378"
"0000208508"	"0000438379"
"0000208725"	"0000438668"
"0000208725"	"0000438669"
"0000234349"	"0000477057"
"0000234350"	"0000477058"
"0000234351"	"0000477059"
"0000234352"	"0000477060"
"0000234353"	"0000477061"
"0000234354"	"0000477062"
"0000234355"	"0000477063"
"0000234356"	"0000477064"
"0000234357"	"0000477065"
"0000234358"	"0000477066"
"0000234359"	"0000477067"
"0000234360"	"0000477068"
"0000234361"	"0000477069"
"0000234362"	"0000477070"
"0000234876"	"0000477584"
"0000234877"	"0000477585"
"0000234878"	"0000477586"
"0000234879"	"0000477587"
"0000270743"	"0000604556"
"0000270743"	"0000604557"
"0000270750"	"0000604572"
"0000270750"	"0000604573"
"0000292303"	"0000648992"
"0000310571"	"0000685482"
"0000310572"	"0000685483"
"0000310573"	"0000685484"
"0000326624"	"0000710216"
"0000333490"	"0000731144"
"0000333490"	"0000731170"
"0000333578"	"0000731254"
"0000333615"	"0000731346"
"0000333678"	"0000731427"
"0000333678"	"0000731451"
"0000334689"	"0000732669"
"0000334689"	"0000732694"
"0000334707"	"0000732687"
"0000334707"	"0000732695"
"0000336399"	"0000735674"
"0000336399"	"0000735772"
"0000336628"	"0000736073"
"0000336628"	"0000736123"
"0000360144"	"0000759842"
"0000360144"	"0000759874"
"0000360145"	"0000759843"
"0000360145"	"0000759875"
"0000360316"	"0000760208"
"0000360316"	"0000760444"
"0000360447"	"0000760339"
"0000364876"	"0000765818"
"0000364879"	"0000765821"
"0000364880"	"0000765822"
"0000364885"	"0000765827"
"0000369584"	"0000784139"
"0000373303"	"0000783275"
"0000373688"	"0000783836"
"0000373688"	"0000783933"
"0000373691"	"0000783839"
"0000373725"	"0000783873"
"0000373725"	"0000783965"
"0000373867"	"0000784566"
"0000373896"	"0000784510"
"0000373909"	"0000784222"
"0000373909"	"0000784588"
"0000373918"	"0000784452"
"0000373933"	"0000784556"
"0000373969"	"0000784282"
"0000375129"	"0000786424"
"0000375129"	"0000786483"
"0000376607"	"0000788368"
"0000376616"	"0000788418"
"0000376640"	"0000788533"
"0000377999"	"0000790635"
"0000378727"	"0000791613"
"0000378747"	"0000791638"
"0000379088"	"0000792154"
"0000379088"	"0000792155"
"0000379089"	"0000792156"
"0000379089"	"0000792157"
"0000379100"	"0000792170"
"0000379101"	"0000792171"
"0000379109"	"0000792184"
"0000380876"	"0000794106"
"0000380876"	"0000794107"
"0000380968"	"0000794224"
"0000380968"	"0000794225"
"0000381098"	"0000794396"
"0000381098"	"0000794397"
"0000382050"	"0000795704"
"0000382256"	"0000795991"
"0000382375"	"0000796160"
"0000382379"	"0000796165"
"0000382412"	"0000796215"
"0000382432"	"0000796247"
"0000382433"	"0000796248"
"0000382841"	"0000796730"
"0000382873"	"0000796813"
"0000385210"	"0000812133"
"0000385219"	"0000812146"
"0000385251"	"0000812198"
"0000385433"	"0000812481"
"0000386292"	"0000813699"
"0000388303"	"0000816763"
"0000388852"	"0000817629"
"0000389417"	"0000818463"
"0000389417"	"0000818464"
"0000389424"	"0000818480"
"0000389424"	"0000818481"
"0000392810"	"0000823245"
"0000392811"	"0000823246"
"0000392958"	"0000823427"
"0000392958"	"0000823533"
"0000392959"	"0000823428"
"0000392960"	"0000823429"
"0000392960"	"0000823535"
"0000394710"	"0000825698"
"0000394710"	"0000825699"
"0000395087"	"0000826276"
"0000395087"	"0000826277"
"0000395253"	"0000826512"
"0000395254"	"0000826513"
"0000395882"	"0000827334"
"0000409330"	"0000846480"
"0000409330"	"0000846485"
"0000409331"	"0000846481"
"0000409331"	"0000846486"
"0000409332"	"0000846482"
"0000409333"	"0000846483"
"0000409333"	"0000846487"
"0000409334"	"0000846484"
"0000409336"	"0000846490"
"0000409361"	"0000846515"
"0000409362"	"0000846516"
"0000409363"	"0000846517"
"0000409363"	"0000846518"
"0000409387"	"0000846543"
"0000409388"	"0000846544"
"0000409388"	"0000846555"
"0000409389"	"0000846545"
"0000409390"	"0000846546"
"0000409391"	"0000846547"
"0000409392"	"0000846548"
"0000409393"	"0000846549"
"0000409394"	"0000846550"
"0000409394"	"0000846556"
"0000409395"	"0000846551"
"0000409395"	"0000846557"
"0000409396"	"0000846552"
"0000409396"	"0000846558"
"0000409397"	"0000846553"
"0000409398"	"0000846554"
"0000431101"	"0000916066"
"0000431377"	"0000916498"
"0000443154"	"0000944542"
"0000443154"	"0000955398"
"0000448890"	"0000958376"
"0000448890"	"0000958658"
"0000462709"	"0001022260"