### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TTC8)
# 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}}"
"TTC8"	"tetratricopeptide repeat domain 8"	"14"	"q31.3"	"unknown"	"NG_008126.1"	"UD_128755891787"	""	"https://www.LOVD.nl/TTC8"	""	"1"	"20087"	"123016"	"608132"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/TTC8_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-03-28 00:00:00"	"00006"	"2017-02-04 21:34:39"	"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}}"
"00022015"	"TTC8"	"transcript variant 1"	"001"	"NM_144596.2"	""	"NP_653197.2"	""	""	""	"-74"	"2129"	"1548"	"89290978"	"89344335"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"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"
"00992"	"RP51"	"retinitis pigmentosa, type 51 (RP51)"	"AR"	"613464"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04212"	"BBS"	"Bardet-Biedl syndrome (BBS)"	""	""	""	""	""	"00006"	"2015-02-27 19:01:43"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05047"	"BBS8"	"Bardet-Biedl syndrome, type 8 (BBS-8)"	"AR"	"615985"	""	""	""	"00000"	"2015-09-23 11:00:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"TTC8"	"00139"
"TTC8"	"00992"
"TTC8"	"05047"


## Individuals ## Do not remove or alter this header ##
## Count = 112
"{{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}}"
"00050467"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected sibling(s)"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00059888"	""	""	""	"1"	""	"00001"	""	"2-generation family, 3 affecteds"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00059889"	""	""	""	"1"	""	"00001"	""	"2-generation family, 3 affecteds"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00059890"	""	""	""	"1"	""	"00001"	""	"2-generation family, 3 affecteds"	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00059891"	""	""	""	"1"	""	"00001"	""	"2-generation family, 3 affecteds"	""	"yes"	""	""	"0"	""	""	"Africa, North"	""
"00059892"	""	""	""	"1"	""	"00001"	""	""	""	"yes"	"Lebanon"	""	"0"	""	""	""	""
"00059893"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	"Fam57009"
"00059894"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	"Fam57006"
"00059895"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	"Fam57019"
"00059896"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00059897"	""	""	""	"1"	""	"00001"	""	"5-generation family, 4 affecteds"	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00060174"	""	""	""	"1"	""	"00001"	""	""	""	"no"	""	""	"0"	""	""	"white"	""
"00060175"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00060176"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00060177"	""	""	""	"1"	""	"00001"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00060178"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060179"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060180"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060181"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060182"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060183"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060184"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060185"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060186"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060187"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060188"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060189"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060190"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060191"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060192"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060193"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060194"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060195"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060196"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060197"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060198"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060199"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060200"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00060201"	""	""	""	"1"	""	"00001"	""	""	""	""	""	""	"0"	""	""	""	""
"00100099"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61179"
"00233264"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1197  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233265"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233266"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233267"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233268"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233269"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233270"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233271"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233272"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233273"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233274"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00240462"	""	""	""	"1"	""	"03335"	""	""	"M"	""	"Mexico"	""	"0"	""	""	""	""
"00325436"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"2583"
"00358818"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand 2016:27486776}"	""	"F"	"no"	"United States"	""	"0"	""	""	""	"AR704-0311"
"00372684"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP263"
"00372725"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP308"
"00372727"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP323"
"00372744"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP304"
"00373366"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00375424"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#018"
"00376318"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376753"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"13"
"00376758"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"18"
"00376783"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"49"
"00376789"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"56"
"00379366"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00379367"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00379368"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00380365"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi_2014:23432027}"	""	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00381635"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381640"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"?"	"Saudi Arabia"	""	"0"	""	""	""	""
"00381958"	""	""	""	"1"	""	"00000"	"{PMID:Ravesh 2018:30416334}"	"FamilyA"	"F"	"no"	""	""	"0"	""	""	""	"III:I"
"00382292"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"121"
"00382607"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"470"
"00382608"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"471"
"00383198"	""	""	""	"1"	""	"00000"	"{PMID:Bin-2009:19402160}"	""	""	""	""	""	"0"	""	""	"Jamaican/Trinidadian"	""
"00383242"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	""	""	""	""	"0"	""	""	"Lebanese"	""
"00383243"	""	""	""	"3"	""	"00000"	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	""	""	""	""	"0"	""	""	"North Africa"	""
"00383244"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	""	""	""	""	"0"	""	""	"white"	""
"00383662"	""	""	""	"1"	""	"00000"	"{PMID:Manara 2019:31196119}"	""	"M"	""	""	""	"0"	""	""	""	"11"
"00383762"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18070021_A"
"00384789"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"1 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384832"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}"	"2 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384833"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}"	"2 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384839"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00385179"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"Tunisian"	""
"00385184"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"Arabic"	""
"00385185"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385251"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Tunisia"	""	"0"	""	""	""	""
"00385259"	""	""	""	"1"	""	"00000"	"{PMID:Schaefer-2011:21044901}"	""	""	""	"France"	""	"0"	""	""	"french"	""
"00385286"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385353"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	""	""	""	""	"0"	""	""	"French"	""
"00385354"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"French"	""
"00385386"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"French"	""
"00385557"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	""	"A2506"
"00385559"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Hispanic"	"A2513"
"00386172"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-284"
"00388311"	""	""	""	"1"	""	"00000"	"{PMID:Ullah-2017:28761321}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"C:IV-1"
"00388312"	""	""	""	"1"	""	"00000"	"{PMID:Ullah-2017:28761321}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"C:IV-2"
"00388313"	""	""	""	"1"	""	"00000"	"{PMID:Ullah-2017:28761321}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"C:IV-6"
"00388534"	""	""	""	"1"	""	"00000"	"{PMID:Hirano 2020:32451492}"	""	"M"	"no"	"Japan"	""	"0"	""	""	""	"9"
"00394471"	""	""	""	"1"	""	"00000"	"{PMID:Jeziorny-2020:33138063}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394478"	""	""	""	"1"	""	"00000"	"{PMID:Jeziorny-2020:33138063}"	""	"M"	""	""	""	"0"	""	""	""	""
"00395029"	""	""	""	"1"	""	"00000"	"{PMID:Zacchia 2021:33964006}"	""	"F"	""	"(Italy)"	""	"0"	""	""	""	"K40"
"00408445"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	""	"?"	""	"Finland"	""	"0"	""	""	""	"32"
"00408446"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	""	"?"	""	"Finland"	""	"0"	""	""	""	"32"
"00413034"	""	""	""	"1"	""	"00000"	"{PMID:Goyal 2016:26195043}"	"four-generation family of North Indian origin; proband"	"M"	""	""	""	"0"	""	""	"North Indian"	"IV-1"
"00413035"	""	""	""	"1"	""	"00000"	"{PMID:Goyal 2016:26195043}"	"four-generation family of North Indian origin; proband"	"M"	""	""	""	"0"	""	""	"North Indian"	"IV-3"
"00413036"	""	""	""	"1"	""	"00000"	"{PMID:Goyal 2016:26195043}"	"four-generation family of North Indian origin; proband"	"M"	""	""	""	"0"	""	""	"North Indian"	"IV-5"
"00413037"	""	""	""	"1"	""	"00000"	"{PMID:Sato 2019:30886724}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00446983"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-412"
"00447445"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"USHII-369"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 112
"{{individualid}}"	"{{diseaseid}}"
"00050467"	"00198"
"00059888"	"04212"
"00059889"	"04212"
"00059890"	"04212"
"00059891"	"04212"
"00059892"	"04212"
"00059893"	"04212"
"00059894"	"04212"
"00059895"	"04212"
"00059896"	"04212"
"00059897"	"00112"
"00060174"	"04212"
"00060175"	"04212"
"00060176"	"04212"
"00060177"	"04212"
"00060178"	"00198"
"00060179"	"04212"
"00060180"	"04212"
"00060181"	"04212"
"00060182"	"04212"
"00060183"	"04212"
"00060184"	"04212"
"00060185"	"04212"
"00060186"	"04212"
"00060187"	"04212"
"00060188"	"04212"
"00060189"	"04212"
"00060190"	"04212"
"00060191"	"04212"
"00060192"	"04212"
"00060193"	"04212"
"00060194"	"04212"
"00060195"	"04212"
"00060196"	"04212"
"00060197"	"04212"
"00060198"	"04212"
"00060199"	"04212"
"00060200"	"04212"
"00060201"	"04212"
"00100099"	"04214"
"00233264"	"04214"
"00233265"	"04214"
"00233266"	"04214"
"00233267"	"04214"
"00233268"	"04214"
"00233269"	"04214"
"00233270"	"04214"
"00233271"	"04214"
"00233272"	"04214"
"00233273"	"04214"
"00233274"	"04214"
"00240462"	"00381"
"00325436"	"04214"
"00358818"	"04212"
"00372684"	"04214"
"00372725"	"04214"
"00372727"	"04214"
"00372744"	"04214"
"00373366"	"04214"
"00375424"	"04214"
"00376318"	"04214"
"00376753"	"04214"
"00376758"	"04214"
"00376783"	"04214"
"00376789"	"04214"
"00379366"	"04214"
"00379367"	"04214"
"00379368"	"04214"
"00380365"	"04214"
"00381635"	"04214"
"00381640"	"04214"
"00381958"	"04214"
"00382292"	"04214"
"00382607"	"04214"
"00382608"	"04214"
"00383198"	"04214"
"00383242"	"04214"
"00383243"	"04214"
"00383244"	"04214"
"00383662"	"04214"
"00383762"	"04214"
"00384789"	"04214"
"00384832"	"04214"
"00384833"	"04214"
"00384839"	"04214"
"00385179"	"04214"
"00385184"	"04214"
"00385185"	"04214"
"00385251"	"04214"
"00385259"	"04214"
"00385286"	"04214"
"00385353"	"04214"
"00385354"	"04214"
"00385386"	"04214"
"00385557"	"04214"
"00385559"	"04214"
"00386172"	"04214"
"00388311"	"04214"
"00388312"	"04214"
"00388313"	"04214"
"00388534"	"04214"
"00394471"	"04214"
"00394478"	"04214"
"00395029"	"04214"
"00408445"	"04214"
"00408446"	"04214"
"00413034"	"04214"
"00413035"	"04214"
"00413036"	"04214"
"00413037"	"04214"
"00446983"	"00198"
"00447445"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 00381, 00992, 04212, 04214, 05047
## Count = 100
"{{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}}"
"0000037079"	"00198"	"00050467"	"00006"	"Unknown"	""	"muscular hypotonia of the trunk, delayed speech and language development, high palate, short philtrum, prominent fingertip pads"	""	""	""	""	""	""	""	""	""	""	""
"0000046380"	"04212"	"00059888"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046381"	"04212"	"00059889"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046382"	"04212"	"00059890"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046383"	"04212"	"00059891"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046384"	"04212"	"00059892"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046385"	"04212"	"00059893"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046386"	"04212"	"00059894"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046387"	"04212"	"00059895"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046388"	"04212"	"00059896"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046389"	"00112"	"00059897"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046664"	"04212"	"00060174"	"00001"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046665"	"04212"	"00060175"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046666"	"04212"	"00060176"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046667"	"04212"	"00060177"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046668"	"00198"	"00060178"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046669"	"04212"	"00060179"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046670"	"04212"	"00060180"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046671"	"04212"	"00060181"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046672"	"04212"	"00060182"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046673"	"04212"	"00060183"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046674"	"04212"	"00060184"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046675"	"04212"	"00060185"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046676"	"04212"	"00060186"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046677"	"04212"	"00060187"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046678"	"04212"	"00060188"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046679"	"04212"	"00060189"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046680"	"04212"	"00060190"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046681"	"04212"	"00060191"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046682"	"04212"	"00060192"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046683"	"04212"	"00060193"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046684"	"04212"	"00060194"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046685"	"04212"	"00060195"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046686"	"04212"	"00060196"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046687"	"04212"	"00060197"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046688"	"04212"	"00060198"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046689"	"04212"	"00060199"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046690"	"04212"	"00060200"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046691"	"04212"	"00060201"	"00001"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000078336"	"04214"	"00100099"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000243923"	"04214"	"00325436"	"00006"	"Familial, autosomal recessive"	""	"syndromic retinal systrophy"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000254033"	"04212"	"00358818"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	""
"0000267963"	"04214"	"00372684"	"00000"	"Isolated (sporadic)"	"22y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268004"	"04214"	"00372725"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268006"	"04214"	"00372727"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268023"	"04214"	"00372744"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268642"	"04214"	"00373366"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270638"	"04214"	"00375424"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271526"	"04214"	"00376318"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis/ chorioretinal dysplasia (LCA/ChReD)"	""
"0000271964"	"04214"	"00376753"	"00000"	"Familial, autosomal recessive"	"48y"	""	""	""	""	""	""	""	""	""	""	"Decreased peripheral vision, photophobia, difficult light-to-dark adaptation, night blindness"	""
"0000271969"	"04214"	"00376758"	"00000"	"Familial, autosomal recessive"	"76y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271994"	"04214"	"00376783"	"00000"	"Familial, autosomal dominant"	"54y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, macular subatrophy, pseudohole"	""
"0000272000"	"04214"	"00376789"	"00000"	"Unknown"	"38y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000273239"	"04214"	"00379366"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, hypogonadism"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273240"	"04214"	"00379367"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, hypogonadism, mental retardation, developmental delay, brachycephaly, hypotonia"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273241"	"04214"	"00379368"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, hypogonadism, mental retardation, developmental delay, brachycephaly, situs inversus"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000274216"	"04214"	"00380365"	"00000"	"Familial, autosomal recessive"	"4y"	"arterial hypertension, retinitis pigmentaria"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome"	""
"0000275477"	"04214"	"00381635"	"00000"	"Isolated (sporadic)"	""	""	"50y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275482"	"04214"	"00381640"	"00000"	"Familial, autosomal recessive"	""	""	"11y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275800"	"04214"	"00381958"	"00000"	"Familial, autosomal recessive"	"7y"	""	"3y"	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000276141"	"04214"	"00382292"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Generalized retinal dystrophy (non-syndromic)"	""
"0000276456"	"04214"	"00382607"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276457"	"04214"	"00382608"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Macular dystrophy unspecified"	""
"0000276985"	"04214"	"00383198"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277029"	"04214"	"00383242"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277030"	"04214"	"00383243"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277031"	"04214"	"00383244"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277447"	"04214"	"00383662"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndro"	""
"0000277547"	"04214"	"00383762"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000278572"	"04214"	"00384789"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278615"	"04214"	"00384832"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly, hydrometrocolpos"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278616"	"04214"	"00384833"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly, hydrometrocolpos"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278622"	"04214"	"00384839"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, deafness,"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278975"	"04214"	"00385179"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278980"	"04214"	"00385184"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278981"	"04214"	"00385185"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279047"	"04214"	"00385251"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279055"	"04214"	"00385259"	"00000"	"Familial, autosomal recessive"	""	"Polydactyly, kidney features, obesity, retinitis pigmentosa, hydrometrocolpos with bleeding, vaginal atresia,"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279082"	"04214"	"00385286"	"00000"	"Familial, autosomal recessive"	"4y"	"obesity, retinitis pigmentosa, polydactyly, hypogenitalism, mental retardation"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279149"	"04214"	"00385353"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279150"	"04214"	"00385354"	"00000"	"Familial, autosomal recessive"	"43y6m"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Asthma, DislipidemiaTeeth crowding, Micropenis, Cholelithiasis"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279182"	"04214"	"00385386"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279352"	"04214"	"00385557"	"00000"	"Familial, autosomal recessive"	""	"retinitis pigmentosa, postaxial polydactyly, obesity, AZ,MR,NE"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279354"	"04214"	"00385559"	"00000"	"Familial, autosomal recessive"	""	"retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, FL,GASTS,MR"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279975"	"04214"	"00386172"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000281863"	"04214"	"00388311"	"00000"	"Familial, autosomal recessive"	"13y"	"retinitis pigmentosa, polydactyly both hands and feet, obesity, hypogonadism, cognitive Impairment, clinodactyly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281864"	"04214"	"00388312"	"00000"	"Familial, autosomal recessive"	"12y"	"retinitis pigmentosa, polydactyly both hands and left foot, obesity, hypogonadism, cognitive Impairment, clinodactyly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281865"	"04214"	"00388313"	"00000"	"Familial, autosomal recessive"	"10y"	"retinitis pigmentosa, polydactyly left foot, obesity, cognitive Impairment"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000282075"	"04214"	"00388534"	"00000"	"Familial, autosomal recessive"	"28y"	"rod-cone dystrophy, obesity, polydactyly, renal fibrosis, BMI: 29 (9 year), strabismus, Hirschsprung disease, hypertension, cataract"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000287674"	"04214"	"00394471"	"00000"	"Familial, autosomal recessive"	""	"dyslipidemia, autism"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome"	""
"0000287681"	"04214"	"00394478"	"00000"	"Familial, autosomal recessive"	""	"hepatic steatosis, dyslipidemia, scoliosis"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome"	""
"0000288229"	"04214"	"00395029"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000300561"	"04214"	"00408445"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis/chorioretinal dysplasia"	""	""
"0000300562"	"04214"	"00408446"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis/chorioretinal dysplasia"	""	""
"0000305015"	"04214"	"00413034"	"00000"	"Familial, autosomal recessive"	""	"18y: loss of central vision; no extraocular characteristics of Bardet-Biedl syndrome; non-syndromic arRP with macular degeneration; fundus examination: attenuated retinal blood vessels, bone spicule pigmentation in the midperiphery of the retina, macular degeneration, retinal pigment epithelium degeneration and waxy pallor of the optic disc; best corrected visual acuity right, left eye: 6/60, <6/60; high myopia"	"17y"	""	"night blindness and photophobia"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000305016"	"04214"	"00413035"	"00000"	"Familial, autosomal recessive"	""	"no extraocular characteristics of Bardet-Biedl syndrome; non-syndromic arRP with macular degeneration; fundus examination: attenuated retinal blood vessels, bone spicule pigmentation in the midperiphery of the retina, macular degeneration, retinal pigment epithelium degeneration and waxy pallor of the optic disc; best corrected visual acuity right, left eye: <6/60, 6/36; high myopia; optical coherence tomography: fraying of the rod and cone layers, hyperflexed areas in the retinal pigment epithelium layer (because of accumulation of pigments) and macular degeneration; electroretinogram: extinguished rod and cone response (unaffected heterozygous father showed increased implicit time and reduced amplitude in scotopic 0.01 ERG), indicating carrier state"	"16y"	""	"retinitis pigmentosa, loss of central vision"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000305017"	"04214"	"00413036"	"00000"	"Familial, autosomal recessive"	""	"no extraocular characteristics of Bardet-Biedl syndrome; non-syndromic arRP with macular degeneration; fundus examination: attenuated retinal blood vessels, bone spicule pigmentation in the midperiphery of the retina, macular degeneration, retinal pigment epithelium degeneration and waxy pallor of the optic disc; best corrected visual acuity right, left eye: 6/60, <6/60; high myopia"	"2y"	""	"retinitis pigmentosa 2y, loss of central vision 5y"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000305018"	"04214"	"00413037"	"00000"	"Familial, autosomal recessive"	"8y"	"rod-cone dystrophy: 8y, acuity right, left eye: 0.01, 0.04, with mild myopia and astigmatism, no medication; fundus: binocular diffuse retinal degeneration; visual field: centipede constriction (binocular); optical coherence tomography: binocular diffuse thinning of outer retinal layer. macular atrophy, no macular edema, no cystic changes, elipsoid zone loss; fundus autofluorescence: binocular mottled pattern, no perifoveal ring; polydactyly at birth; both feet -plastic surgery (19m); 9y: obesity;height: 164 cm; weight: 78.1 kg; body mass index: 29 kg/m2, no medication; hypogonadism - testosterone: 300-600 ng/dl - no medication; 7d: renal anomalies: cystic kidney; creatinine: 1.79 mg/dl BUN: 21 mg/dl eGFR cre: 37.2 mL/min/1.73 m2- no medication; no mental retardation; secondary BBS signs: 3m: Hirschsprung disease - surgery (28m); 9y: abnormal glucose tolerance - HbA1c: 5.6%, 75 g oral glucose tolerance test: 82 mg/dL at 0 h, 185 mg/dL at 2 h - no medication; exotropia NA - Bilateral lateral rectus muscle recession (14 years old) Hypertension 27 Years old Blood pressure = 145/83 mm Hg Oral medicine (Azilsartan 20 mg and Amlodipine besilate 3.47 mg per day); binocular anterior sub-capsular cataract; no heart disease; no liver fibrosis"	"0m"	""	""	""	""	""	""	""	"Bardet-Biedl syndro"	""	""
"0000336182"	"00198"	"00446983"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336644"	"00198"	"00447445"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 112
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050412"	"00050467"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000059875"	"00059888"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059876"	"00059889"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059877"	"00059890"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059878"	"00059891"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059879"	"00059892"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059880"	"00059893"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059881"	"00059894"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059882"	"00059895"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059883"	"00059896"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000059884"	"00059897"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060161"	"00060174"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060162"	"00060175"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060163"	"00060176"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060164"	"00060177"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060165"	"00060178"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060166"	"00060179"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060167"	"00060180"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060168"	"00060181"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060169"	"00060182"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060170"	"00060183"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060171"	"00060184"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060172"	"00060185"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060173"	"00060186"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060174"	"00060187"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060175"	"00060188"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060176"	"00060189"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060177"	"00060190"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060178"	"00060191"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"SEQ"	"DNA"	""	""
"0000060179"	"00060192"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060180"	"00060193"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060181"	"00060194"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060182"	"00060195"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060183"	"00060196"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060184"	"00060197"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060185"	"00060198"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060186"	"00060199"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060187"	"00060200"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000060188"	"00060201"	"1"	"00001"	"00001"	"2010-06-11 12:14:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000100503"	"00100099"	"1"	"01769"	"01769"	"2017-01-30 19:11:45"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000234363"	"00233264"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234364"	"00233265"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234365"	"00233266"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234366"	"00233267"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234367"	"00233268"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234368"	"00233269"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234369"	"00233270"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234370"	"00233271"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234371"	"00233272"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234372"	"00233273"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234373"	"00233274"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000241572"	"00240462"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000326647"	"00325436"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000360048"	"00358818"	"1"	"00000"	"00006"	"2021-03-12 18:57:14"	""	""	"arrayCGH;PCRlr;SEQ-NG"	"DNA"	""	""
"0000373916"	"00372684"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373957"	"00372725"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373959"	"00372727"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373976"	"00372744"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374601"	"00373366"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000376621"	"00375424"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377514"	"00376318"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377959"	"00376753"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377964"	"00376758"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377989"	"00376783"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377995"	"00376789"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000380566"	"00379366"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380567"	"00379367"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380568"	"00379368"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000381579"	"00380365"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382851"	"00381635"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382856"	"00381640"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383174"	"00381958"	"1"	"00000"	"03840"	"2021-09-06 15:35:13"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000383506"	"00382292"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383821"	"00382607"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383822"	"00382608"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000384422"	"00383198"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000384466"	"00383242"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000384467"	"00383243"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000384468"	"00383244"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000384887"	"00383662"	"1"	"00000"	"03840"	"2021-09-29 12:18:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood;saliva"	"panel containing 18 BBS genes"
"0000384987"	"00383762"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000386015"	"00384789"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386058"	"00384832"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386059"	"00384833"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386065"	"00384839"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386408"	"00385179"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386413"	"00385184"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386414"	"00385185"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386480"	"00385251"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386488"	"00385259"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	""
"0000386515"	"00385286"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386582"	"00385353"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	"blood"	""
"0000386583"	"00385354"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	"blood"	""
"0000386615"	"00385386"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	"blood"	""
"0000386786"	"00385557"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386788"	"00385559"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000387401"	"00386172"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000389552"	"00388311"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000389553"	"00388312"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000389554"	"00388313"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000389776"	"00388534"	"1"	"00000"	"03840"	"2021-11-04 13:39:46"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000395718"	"00394471"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000395725"	"00394478"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000396275"	"00395029"	"1"	"00000"	"03840"	"2021-12-03 13:19:14"	""	""	"SEQ-NG"	"DNA"	"blood"	"115 genes causing different inherited kidney diseases"
"0000409702"	"00408445"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409703"	"00408446"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000414305"	"00413034"	"1"	"00000"	"03840"	"2022-07-07 18:00:40"	""	""	"SEQ-NG;arraySNP;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000414306"	"00413035"	"1"	"00000"	"03840"	"2022-07-07 18:00:40"	""	""	"SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000414307"	"00413036"	"1"	"00000"	"03840"	"2022-07-07 18:00:40"	""	""	"SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000414308"	"00413037"	"1"	"00000"	"03840"	"2022-07-07 20:52:35"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000448560"	"00446983"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449022"	"00447445"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 137
"{{screeningid}}"	"{{geneid}}"
"0000050412"	"TTC8"
"0000059875"	"TTC8"
"0000059876"	"TTC8"
"0000059877"	"TTC8"
"0000059878"	"TTC8"
"0000059879"	"TTC8"
"0000059880"	"TTC8"
"0000059881"	"TTC8"
"0000059882"	"TTC8"
"0000059883"	"TTC8"
"0000059884"	"TTC8"
"0000060161"	"TTC8"
"0000060162"	"TTC8"
"0000060163"	"TTC8"
"0000060164"	"TTC8"
"0000060165"	"TTC8"
"0000060166"	"TTC8"
"0000060167"	"TTC8"
"0000060168"	"TTC8"
"0000060169"	"TTC8"
"0000060170"	"TTC8"
"0000060171"	"TTC8"
"0000060172"	"TTC8"
"0000060173"	"TTC8"
"0000060174"	"TTC8"
"0000060175"	"TTC8"
"0000060176"	"TTC8"
"0000060177"	"TTC8"
"0000060178"	"TTC8"
"0000060179"	"TTC8"
"0000060180"	"TTC8"
"0000060181"	"TTC8"
"0000060182"	"TTC8"
"0000060183"	"TTC8"
"0000060184"	"TTC8"
"0000060185"	"TTC8"
"0000060186"	"TTC8"
"0000060187"	"TTC8"
"0000060188"	"TTC8"
"0000100503"	"TTC8"
"0000234363"	"TTC8"
"0000234364"	"TTC8"
"0000234365"	"TTC8"
"0000234366"	"TTC8"
"0000234367"	"TTC8"
"0000234368"	"TTC8"
"0000234369"	"TTC8"
"0000234370"	"TTC8"
"0000234371"	"TTC8"
"0000234372"	"TTC8"
"0000234373"	"TTC8"
"0000241572"	"TTC8"
"0000326647"	"TTC8"
"0000360048"	"BBS10"
"0000360048"	"NPHP1"
"0000360048"	"TTC8"
"0000377514"	"TTC8"
"0000380566"	"ARL6"
"0000380566"	"BBS1"
"0000380566"	"BBS10"
"0000380566"	"BBS12"
"0000380566"	"BBS2"
"0000380566"	"BBS4"
"0000380566"	"BBS5"
"0000380566"	"BBS7"
"0000380566"	"BBS9"
"0000380566"	"MKKS"
"0000380566"	"TRIM32"
"0000380566"	"TTC8"
"0000380567"	"ARL6"
"0000380567"	"BBS1"
"0000380567"	"BBS10"
"0000380567"	"BBS12"
"0000380567"	"BBS2"
"0000380567"	"BBS4"
"0000380567"	"BBS5"
"0000380567"	"BBS7"
"0000380567"	"BBS9"
"0000380567"	"MKKS"
"0000380567"	"TRIM32"
"0000380567"	"TTC8"
"0000380568"	"ARL6"
"0000380568"	"BBS1"
"0000380568"	"BBS10"
"0000380568"	"BBS12"
"0000380568"	"BBS2"
"0000380568"	"BBS4"
"0000380568"	"BBS5"
"0000380568"	"BBS7"
"0000380568"	"BBS9"
"0000380568"	"MKKS"
"0000380568"	"TRIM32"
"0000380568"	"TTC8"
"0000381579"	"TMEM216"
"0000382851"	"CNGA1"
"0000382856"	"RPGRIP1"
"0000383174"	"TTC8"
"0000383506"	"EYS"
"0000383821"	"TTC8"
"0000383822"	"TTC8"
"0000384422"	"BBS1"
"0000384422"	"BBS7"
"0000384422"	"TTC8"
"0000384466"	"TTC8"
"0000384467"	"TTC8"
"0000384468"	"TTC8"
"0000384887"	"BBS4"
"0000384987"	"TTC8"
"0000386015"	"ARL6"
"0000386058"	"BBS12"
"0000386059"	"BBS12"
"0000386065"	"BBS4"
"0000386408"	"BBS1"
"0000386413"	"ARL6"
"0000386414"	"BBS7"
"0000386480"	"TTC8"
"0000386488"	"TTC8"
"0000386515"	"TTC8"
"0000386582"	"TTC8"
"0000386583"	"TTC8"
"0000386615"	"TTC8"
"0000386786"	"TTC8"
"0000386788"	"TTC8"
"0000387401"	"KIZ"
"0000389552"	"TTC8"
"0000389553"	"TTC8"
"0000389554"	"TTC8"
"0000389776"	"TTC8"
"0000395718"	"TTC8"
"0000395725"	"BBS2"
"0000396275"	"TTC8"
"0000409702"	"TTC8"
"0000409703"	"TTC8"
"0000414305"	"TTC8"
"0000414306"	"TTC8"
"0000414307"	"TTC8"
"0000414308"	"TTC8"


## 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 = 183
"{{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}}"
"0000046845"	"3"	"70"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"00705"	"TTC8_000029"	"g.89338702A>G"	""	"{DOI:Lim et al. (2014):10.1016/j.ajhg.2014.09.015}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88872358A>G"	""	"likely pathogenic"	""
"0000079392"	"3"	"90"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"00006"	"TTC8_000029"	"g.89338702A>G"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88872358A>G"	""	"pathogenic"	""
"0000091094"	"3"	"90"	"14"	"89310159"	"89310164"	"del"	"0"	"00001"	"TTC8_000044"	"g.89310159_89310164del"	"1/120"	"{PMID:Ainsley 2003:14520415}, {OMIM608132:0001}"	""	"187-188delEY"	""	"Unknown"	""	""	"0"	""	""	"g.88843815_88843820del"	""	"pathogenic"	""
"0000091095"	"3"	"90"	"14"	"89310159"	"89310164"	"del"	"0"	"00001"	"TTC8_000044"	"g.89310159_89310164del"	"1/120"	"{PMID:Ainsley 2003:14520415}, {OMIM608132:0001}"	""	"187-188delEY"	""	"Unknown"	""	""	"0"	""	""	"g.88843815_88843820del"	""	"pathogenic"	""
"0000091096"	"3"	"90"	"14"	"89336544"	"89336546"	"del"	"4.06659E-6"	"00001"	"TTC8_000031"	"g.89336544_89336546del"	"1/120"	"{PMID:Ainsley 2003:14520415}, {OMIM608132:0002}"	""	"IVS10+2_4delTGC"	""	"Unknown"	""	""	"0"	""	""	"g.88870200_88870202del"	""	"pathogenic"	""
"0000091097"	"3"	"90"	"14"	"89307540"	"89307540"	"subst"	"4.88767E-5"	"00001"	"TTC8_000032"	"g.89307540G>A"	"1/128"	"{PMID:Stoetzel 2006:16308660}"	""	"459G>A (T153T)"	""	"Unknown"	""	""	"0"	""	""	"g.88841196G>A"	""	"pathogenic"	""
"0000091098"	"3"	"90"	"14"	"89310195"	"89310195"	"subst"	"0"	"00001"	"TTC8_000034"	"g.89310195G>A"	"1/128"	"{PMID:Stoetzel 2006:16308660}"	""	"IVS6+1G>A"	""	"Unknown"	""	""	"0"	""	""	"g.88843851G>A"	""	"pathogenic"	""
"0000091099"	"11"	"90"	"14"	"89310195"	"89310196"	"del"	"0"	"00001"	"TTC8_000035"	"g.89310195_89310196del"	"1/128"	"{PMID:Stoetzel 2006:16308660}"	""	"IVS6+1_2delGT"	""	"Unknown"	""	""	"0"	""	""	"g.88843851_88843852del"	""	"pathogenic"	""
"0000091100"	"21"	"90"	"14"	"0"	"0"	""	"0"	"00001"	"TTC8_000030"	"g.?"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000091101"	"3"	"90"	"14"	"89307451"	"89307452"	"ins"	"0"	"00001"	"TTC8_000037"	"g.89307451_89307452insGGTGGAAGGCCAGGCA"	""	"{PMID:Smaoui 2006:16877420}"	""	"355_356insGGTGGAAGGCCAGGCA (Thr124ArgfsX43)"	""	"Germline"	""	""	"0"	""	""	"g.88841107_88841108insGGTGGAAGGCCAGGCA"	""	"pathogenic (recessive)"	""
"0000091102"	"3"	"90"	"14"	"89307541"	"89307541"	"subst"	"0"	"00001"	"TTC8_000038"	"g.89307541G>A"	""	"{PMID:Smaoui 2006:16877420}"	""	"IVS4+1G>A (459+1G>A)"	"Fig.3d not 3f; shared haplotype"	"Germline"	""	""	"0"	""	""	"g.88841197G>A"	""	"pathogenic"	""
"0000091103"	"3"	"90"	"14"	"89307541"	"89307541"	"subst"	"0"	"00001"	"TTC8_000038"	"g.89307541G>A"	""	"{PMID:Smaoui 2006:16877420}"	""	"IVS4+1G>A (459+1G>A)"	"Fig.3d not 3f; shared haplotype"	"Germline"	""	""	"0"	""	""	"g.88841197G>A"	""	"pathogenic"	""
"0000091104"	"0"	"10"	"14"	"0"	"0"	""	"0"	"00001"	"TTC8_000030"	"g.?"	"2/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	"194+48T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000091105"	"3"	"10"	"14"	"89310261"	"89310261"	"subst"	"0"	"00001"	"TTC8_000030"	"g.89310261A>G"	"16/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	"594+67G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.88843917A>G"	""	"benign"	""
"0000091106"	"0"	"10"	"14"	"89336233"	"89336233"	"subst"	"0"	"00001"	"TTC8_000040"	"g.89336233T>C"	"1/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	"880-170T>C"	""	"Germline"	""	""	"0"	""	""	"g.88869889T>C"	""	"benign"	""
"0000091107"	"0"	"10"	"14"	"89343633"	"89343633"	"subst"	"0"	"00001"	"TTC8_000041"	"g.89343633T>G"	"2/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	"1402-5T>G"	""	"Germline"	""	""	"0"	""	""	"g.88877289T>G"	""	"benign"	""
"0000091108"	"0"	"50"	"14"	"89310261"	"89310261"	"subst"	"0"	"00001"	"TTC8_000030"	"g.89310261A>G"	"0.00-0.16"	""	""	""	""	"Unknown"	""	"rs12890993"	"0"	""	""	"g.88843917A>G"	""	"VUS"	""
"0000091109"	"0"	"10"	"14"	"89305965"	"89305998"	"del"	"0"	"00001"	"TTC8_000042"	"g.89305965_89305998del"	"4"	"{PMID:Stoetzel 2006:16308660}"	""	"235+49del34"	""	"Unknown"	""	""	"0"	""	""	"g.88839621_88839654del"	""	"benign"	""
"0000091110"	"0"	"10"	"14"	"89305987"	"89305987"	"del"	"0"	"00001"	"TTC8_000043"	"g.89305987del"	"2003"	"{PMID:Stoetzel 2006:16308660}"	""	"235+71delA"	""	"Unknown"	""	""	"0"	""	""	"g.88839643del"	""	"benign"	""
"0000091111"	"0"	"10"	"14"	"89307210"	"89307210"	"subst"	"0.000243966"	"00001"	"TTC8_000028"	"g.89307210C>A"	"4"	"{PMID:Stoetzel 2006:16308660}"	""	"237C>A (R79R)"	""	"Unknown"	""	""	"0"	""	""	"g.88840866C>A"	""	"benign"	""
"0000091112"	"0"	"10"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"00001"	"TTC8_000045"	"g.89307227A>G"	"12"	"{PMID:Stoetzel 2006:16308660}"	""	"254A>G"	""	"Unknown"	""	""	"0"	""	""	"g.88840883A>G"	""	"benign"	""
"0000091113"	"0"	"10"	"14"	"89310104"	"89310105"	"ins"	"0"	"00001"	"TTC8_000046"	"g.89310104_89310105insA"	"8"	"{PMID:Stoetzel 2006:16308660}"	""	"550-45insA"	""	"Unknown"	""	""	"0"	""	""	"g.88843760_88843761insA"	""	"benign"	""
"0000091114"	"0"	"10"	"14"	"89319234"	"89319234"	"subst"	"0"	"00001"	"TTC8_000047"	"g.89319234A>G"	"27"	"{PMID:Stoetzel 2006:16308660}"	""	"673-81A>G"	""	"Unknown"	""	""	"0"	""	""	"g.88852890A>G"	""	"benign"	""
"0000091115"	"0"	"10"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"00001"	"TTC8_000048"	"g.89319310C>T"	"19"	"{PMID:Stoetzel 2006:16308660}"	""	"673-5C>T"	""	"Unknown"	""	""	"0"	""	""	"g.88852966C>T"	""	"benign"	""
"0000091116"	"0"	"10"	"14"	"89319475"	"89319475"	"subst"	"0"	"00001"	"TTC8_000049"	"g.89319475G>C"	"23"	"{PMID:Stoetzel 2006:16308660}"	""	"758+75G>C"	""	"Unknown"	""	""	"0"	""	""	"g.88853131G>C"	""	"benign"	""
"0000091117"	"0"	"10"	"14"	"89319478"	"89319478"	"subst"	"0"	"00001"	"TTC8_000020"	"g.89319478G>A"	"4"	"{PMID:Stoetzel 2006:16308660}"	""	"758+78G>A"	""	"Unknown"	""	""	"0"	""	""	"g.88853134G>A"	""	"benign"	""
"0000091118"	"0"	"10"	"14"	"89319480"	"89319480"	"subst"	"0"	"00001"	"TTC8_000021"	"g.89319480G>C"	"4"	"{PMID:Stoetzel 2006:16308660}"	""	"758+80G>C"	""	"Unknown"	""	""	"0"	""	""	"g.88853136G>C"	""	"benign"	""
"0000091119"	"0"	"10"	"14"	"89336352"	"89336352"	"subst"	"0"	"00001"	"TTC8_000022"	"g.89336352T>C"	"4"	"{PMID:Stoetzel 2006:16308660}"	""	"958-51T>C"	""	"Unknown"	""	""	"0"	""	""	"g.88870008T>C"	""	"benign"	""
"0000091120"	"0"	"10"	"14"	"89341534"	"89341534"	"subst"	"0"	"00001"	"TTC8_000023"	"g.89341534A>G"	"8"	"{PMID:Stoetzel 2006:16308660}"	""	"1479+81A>G"	""	"Unknown"	""	""	"0"	""	""	"g.88875190A>G"	""	"benign"	""
"0000091121"	"0"	"10"	"14"	"89343626"	"89343626"	"subst"	"0.00840188"	"00001"	"TTC8_000024"	"g.89343626T>C"	"12"	"{PMID:Stoetzel 2006:16308660}"	""	"1480-12T>C"	""	"Unknown"	""	""	"0"	""	""	"g.88877282T>C"	""	"benign"	""
"0000091122"	"0"	"10"	"14"	"89305987"	"89305987"	"del"	"0"	"00001"	"TTC8_000043"	"g.89305987del"	"3/27"	"{PMID:Hichri 2005:15770229}"	""	"235+71delA"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88839643del"	""	"benign"	""
"0000091123"	"0"	"10"	"14"	"89310104"	"89310105"	"ins"	"0"	"00001"	"TTC8_000046"	"g.89310104_89310105insA"	"1/27"	"{PMID:Hichri 2005:15770229}"	""	"550-45insA"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88843760_88843761insA"	""	"benign"	""
"0000091124"	"0"	"10"	"14"	"89310261"	"89310261"	"subst"	"0"	"00001"	"TTC8_000030"	"g.89310261A>G"	"2/27"	"{PMID:Hichri 2005:15770229}"	""	"594+67G>A"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88843917A>G"	""	"benign"	""
"0000091125"	"0"	"10"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"00001"	"TTC8_000048"	"g.89319310C>T"	"1/27"	"{PMID:Hichri 2005:15770229}"	""	"673-5C>T"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88852966C>T"	""	"benign"	""
"0000091126"	"0"	"10"	"14"	"89319234"	"89319234"	"subst"	"0"	"00001"	"TTC8_000047"	"g.89319234A>G"	"2/27"	"{PMID:Hichri 2005:15770229}"	""	"673-81A>G"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88852890A>G"	""	"benign"	""
"0000091127"	"0"	"10"	"14"	"89319475"	"89319475"	"subst"	"0"	"00001"	"TTC8_000049"	"g.89319475G>C"	"2/27"	"{PMID:Hichri 2005:15770229}"	""	"758+75G>C"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88853131G>C"	""	"benign"	""
"0000091128"	"0"	"10"	"14"	"89336352"	"89336352"	"subst"	"0"	"00001"	"TTC8_000022"	"g.89336352T>C"	"1/27"	"{PMID:Hichri 2005:15770229}"	""	"958-51T>C"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88870008T>C"	""	"benign"	""
"0000091129"	"0"	"10"	"14"	"89341313"	"89341313"	"subst"	"0"	"00001"	"TTC8_000025"	"g.89341313G>C"	"1/27"	"{PMID:Hichri 2005:15770229}"	""	"1396-57G>C"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88874969G>C"	""	"benign"	""
"0000091130"	"0"	"10"	"14"	"89341302"	"89341303"	"del"	"0"	"00001"	"TTC8_000026"	"g.89341302_89341303del"	"2/27"	"{PMID:Hichri 2005:15770229}"	""	"1396-67delAA"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88874958_88874959del"	""	"benign"	""
"0000091131"	"0"	"10"	"14"	"89341291"	"89341294"	"delins"	"0"	"00001"	"TTC8_000027"	"g.89341291_89341294delinsCCC"	"2/27"	"{PMID:Hichri 2005:15770229}"	""	"1396-76delACCAinsCCC"	"heterozygous"	"Unknown"	""	""	"0"	""	""	"g.88874947_88874950delinsCCC"	""	"benign"	""
"0000091132"	"3"	"90"	"14"	"89300035"	"89300035"	"subst"	"0"	"00001"	"TTC8_000009"	"g.89300035A>G"	""	"{PMID:Riazuddin 2010:20451172}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88833691A>G"	""	"pathogenic"	""
"0000162801"	"3"	"90"	"14"	"89300035"	"89300035"	"subst"	"0"	"01769"	"TTC8_000009"	"g.89300035A>G"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88833691A>G"	""	"pathogenic"	""
"0000247231"	"0"	"10"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"02330"	"TTC8_000045"	"g.89307227A>G"	""	""	""	"TTC8(NM_001288781.1):c.254A>G (p.K85R, p.(Lys85Arg)), TTC8(NM_144596.3):c.284A>G (p.K95R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88840883A>G"	""	"benign"	""
"0000250752"	"0"	"10"	"14"	"89305845"	"89305845"	"subst"	"0.000833449"	"02326"	"TTC8_000052"	"g.89305845A>G"	""	""	""	"TTC8(NM_001288781.1):c.164A>G (p.D55G), TTC8(NM_144596.2):c.194A>G (p.(Asp65Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88839501A>G"	""	"benign"	""
"0000251572"	"0"	"10"	"14"	"89310116"	"89310116"	"del"	"0"	"02326"	"TTC8_000058"	"g.89310116del"	""	""	""	"TTC8(NM_144596.3):c.580-34delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88843772del"	""	"benign"	""
"0000251735"	"0"	"30"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"02326"	"TTC8_000045"	"g.89307227A>G"	""	""	""	"TTC8(NM_001288781.1):c.254A>G (p.K85R, p.(Lys85Arg)), TTC8(NM_144596.3):c.284A>G (p.K95R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88840883A>G"	""	"likely benign"	""
"0000253971"	"0"	"30"	"14"	"89305845"	"89305845"	"subst"	"0.000833449"	"01943"	"TTC8_000052"	"g.89305845A>G"	""	""	""	"TTC8(NM_001288781.1):c.164A>G (p.D55G), TTC8(NM_144596.2):c.194A>G (p.(Asp65Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88839501A>G"	""	"likely benign"	""
"0000254509"	"0"	"30"	"14"	"89312942"	"89312942"	"subst"	"0"	"01943"	"TTC8_000059"	"g.89312942A>G"	""	""	""	"TTC8(NM_001288781.1):c.595A>G (p.I199V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88846598A>G"	""	"likely benign"	""
"0000255090"	"0"	"30"	"14"	"89341439"	"89341439"	"subst"	"0.000150828"	"01943"	"TTC8_000068"	"g.89341439A>G"	""	""	""	"TTC8(NM_144596.3):c.1417A>G (p.T473A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88875095A>G"	""	"likely benign"	""
"0000309714"	"0"	"10"	"14"	"89336468"	"89336468"	"subst"	"8.13385E-6"	"02330"	"TTC8_000061"	"g.89336468T>C"	""	""	""	"TTC8(NM_001288781.1):c.1023T>C (p.H341=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88870124T>C"	""	"benign"	""
"0000309715"	"0"	"30"	"14"	"89338743"	"89338743"	"subst"	"0.000125986"	"02330"	"TTC8_000064"	"g.89338743G>A"	""	""	""	"TTC8(NM_001288781.1):c.1342G>A (p.E448K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88872399G>A"	""	"likely benign"	""
"0000309716"	"0"	"10"	"14"	"89341423"	"89341423"	"subst"	"0.000859912"	"02330"	"TTC8_000067"	"g.89341423G>A"	""	""	""	"TTC8(NM_001288781.1):c.1449G>A (p.P483=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88875079G>A"	""	"benign"	""
"0000309717"	"0"	"30"	"14"	"89307769"	"89307769"	"subst"	"8.14538E-6"	"02330"	"TTC8_000057"	"g.89307769G>A"	""	""	""	"TTC8(NM_001288781.1):c.460G>A (p.A154T), TTC8(NM_144596.3):c.490G>A (p.A164T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88841425G>A"	""	"likely benign"	""
"0000314908"	"0"	"10"	"14"	"89297204"	"89297204"	"subst"	"0"	"02326"	"TTC8_000051"	"g.89297204G>A"	""	""	""	"TTC8(NM_144596.3):c.115-2833G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88830860G>A"	""	"benign"	""
"0000314909"	"0"	"10"	"14"	"89343669"	"89343669"	"subst"	"0.000281192"	"02326"	"TTC8_000055"	"g.89343669C>T"	""	""	""	"TTC8(NM_144596.3):c.1463C>T (p.A488V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88877325C>T"	""	"benign"	""
"0000314910"	"0"	"10"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"02326"	"TTC8_000048"	"g.89319310C>T"	""	""	""	"TTC8(NM_144596.3):c.625-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88852966C>T"	""	"benign"	""
"0000314911"	"0"	"90"	"14"	"89310195"	"89310195"	"subst"	"0"	"02326"	"TTC8_000034"	"g.89310195G>A"	""	""	""	"TTC8(NM_001288781.1):c.594+1G>A, TTC8(NM_144596.3):c.624+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88843851G>A"	""	"pathogenic"	""
"0000314912"	"0"	"10"	"14"	"89343626"	"89343626"	"subst"	"0.00840188"	"02326"	"TTC8_000024"	"g.89343626T>C"	""	""	""	"TTC8(NM_144596.3):c.1432-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88877282T>C"	""	"benign"	""
"0000318051"	"0"	"30"	"14"	"89291171"	"89291171"	"subst"	"1.25862E-5"	"01943"	"TTC8_000050"	"g.89291171G>A"	""	""	""	"TTC8(NM_001288781.1):c.114+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88824827G>A"	""	"likely benign"	""
"0000318052"	"0"	"30"	"14"	"89338739"	"89338739"	"subst"	"4.06369E-6"	"01943"	"TTC8_000063"	"g.89338739C>T"	""	""	""	"TTC8(NM_001288781.1):c.1338C>T (p.H446=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88872395C>T"	""	"likely benign"	""
"0000318053"	"0"	"50"	"14"	"89341374"	"89341374"	"subst"	"2.04328E-5"	"01943"	"TTC8_000066"	"g.89341374G>A"	""	""	""	"TTC8(NM_144596.3):c.1352G>A (p.R451K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88875030G>A"	""	"VUS"	""
"0000318054"	"0"	"10"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"01943"	"TTC8_000048"	"g.89319310C>T"	""	""	""	"TTC8(NM_144596.3):c.625-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88852966C>T"	""	"benign"	""
"0000318055"	"0"	"30"	"14"	"89319303"	"89319303"	"subst"	"2.03805E-5"	"01943"	"TTC8_000060"	"g.89319303T>C"	""	""	""	"TTC8(NM_144596.3):c.625-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88852959T>C"	""	"likely benign"	""
"0000318056"	"0"	"10"	"14"	"89343626"	"89343626"	"subst"	"0.00840188"	"01943"	"TTC8_000024"	"g.89343626T>C"	""	""	""	"TTC8(NM_144596.3):c.1432-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88877282T>C"	""	"benign"	""
"0000323792"	"0"	"50"	"14"	"89305845"	"89305845"	"subst"	"0.000833449"	"01804"	"TTC8_000052"	"g.89305845A>G"	""	""	""	"TTC8(NM_001288781.1):c.164A>G (p.D55G), TTC8(NM_144596.2):c.194A>G (p.(Asp65Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88839501A>G"	""	"VUS"	""
"0000323793"	"0"	"50"	"14"	"89305871"	"89305871"	"subst"	"4.06603E-6"	"01804"	"TTC8_000053"	"g.89305871A>G"	""	""	""	"TTC8(NM_144596.2):c.220A>G (p.(Ile74Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88839527A>G"	""	"VUS"	""
"0000323795"	"0"	"30"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"01804"	"TTC8_000045"	"g.89307227A>G"	""	""	""	"TTC8(NM_001288781.1):c.254A>G (p.K85R, p.(Lys85Arg)), TTC8(NM_144596.3):c.284A>G (p.K95R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88840883A>G"	""	"likely benign"	""
"0000323796"	"0"	"50"	"14"	"89310177"	"89310177"	"subst"	"0"	"01804"	"TTC8_000085"	"g.89310177G>A"	""	""	""	"TTC8(NM_144596.2):c.607G>A (p.(Glu203Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88843833G>A"	""	"VUS"	""
"0000477071"	"0"	"50"	"14"	"89291056"	"89291056"	"subst"	"6.94625E-5"	"02591"	"TTC8_000069"	"g.89291056G>A"	"2/1197 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs199571677"	"0"	""	""	"g.88824712G>A"	""	"VUS"	""
"0000477072"	"0"	"50"	"14"	"89291131"	"89291131"	"subst"	"0"	"02591"	"TTC8_000070"	"g.89291131G>A"	"1/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88824787G>A"	""	"VUS"	""
"0000477073"	"0"	"50"	"14"	"89305802"	"89305802"	"subst"	"1.2203E-5"	"02591"	"TTC8_000071"	"g.89305802T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs772973556"	"0"	""	""	"g.88839458T>C"	""	"VUS"	""
"0000477074"	"0"	"50"	"14"	"89305916"	"89305916"	"subst"	"1.62607E-5"	"02591"	"TTC8_000072"	"g.89305916C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs747646200"	"0"	""	""	"g.88839572C>T"	""	"VUS"	""
"0000477075"	"0"	"50"	"14"	"89307409"	"89307409"	"subst"	"0"	"02591"	"TTC8_000073"	"g.89307409A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88841065A>G"	""	"VUS"	""
"0000477076"	"0"	"50"	"14"	"89307484"	"89307484"	"subst"	"8.13935E-5"	"02591"	"TTC8_000074"	"g.89307484G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs540856754"	"0"	""	""	"g.88841140G>A"	""	"VUS"	""
"0000477077"	"0"	"50"	"14"	"89307527"	"89307527"	"subst"	"4.07083E-6"	"02591"	"TTC8_000075"	"g.89307527T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88841183T>C"	""	"VUS"	""
"0000477078"	"0"	"50"	"14"	"89307815"	"89307815"	"subst"	"4.07166E-6"	"02591"	"TTC8_000076"	"g.89307815G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs780394708"	"0"	""	""	"g.88841471G>A"	""	"VUS"	""
"0000477079"	"0"	"50"	"14"	"89336451"	"89336451"	"subst"	"0"	"02591"	"TTC8_000077"	"g.89336451A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88870107A>G"	""	"VUS"	""
"0000477080"	"0"	"50"	"14"	"89343669"	"89343669"	"subst"	"0.000281192"	"02591"	"TTC8_000055"	"g.89343669C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs199649536"	"0"	""	""	"g.88877325C>T"	""	"VUS"	""
"0000477081"	"0"	"50"	"14"	"89343699"	"89343699"	"subst"	"0"	"02591"	"TTC8_000078"	"g.89343699A>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88877355A>T"	""	"VUS"	""
"0000487582"	"3"	"90"	"14"	"89319364"	"89319364"	"subst"	"0"	"03335"	"TTC8_000079"	"g.89319364G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88853020G>A"	""	"pathogenic (recessive)"	""
"0000553276"	"0"	"10"	"14"	"89307366"	"89307366"	"subst"	"0.00159008"	"02330"	"TTC8_000083"	"g.89307366T>A"	""	""	""	"TTC8(NM_001288781.1):c.300-15T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88841022T>A"	""	"benign"	""
"0000553277"	"0"	"90"	"14"	"89307838"	"89307838"	"subst"	"4.07193E-6"	"02327"	"TTC8_000084"	"g.89307838C>T"	""	""	""	"TTC8(NM_001366535.2):c.529C>T (p.Q177*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88841494C>T"	""	"pathogenic"	""
"0000553278"	"0"	"50"	"14"	"89319352"	"89319352"	"subst"	"3.2538E-5"	"01943"	"TTC8_000086"	"g.89319352A>G"	""	""	""	"TTC8(NM_001288781.1):c.710A>G (p.Q237R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88853008A>G"	""	"VUS"	""
"0000553279"	"0"	"90"	"14"	"89336408"	"89336408"	"del"	"1.22093E-5"	"02327"	"TTC8_000087"	"g.89336408del"	""	""	""	"TTC8(NM_144596.4):c.915del (p.(Met305Ilefs*15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88870064del"	""	"pathogenic"	""
"0000553280"	"0"	"10"	"14"	"89337920"	"89337920"	"subst"	"0.00145159"	"02330"	"TTC8_000088"	"g.89337920C>T"	""	""	""	"TTC8(NM_001288781.1):c.1125C>T (p.N375=), TTC8(NM_001366535.2):c.1047C>T (p.N349=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88871576C>T"	""	"benign"	""
"0000553281"	"0"	"30"	"14"	"89337920"	"89337920"	"subst"	"0.00145159"	"01943"	"TTC8_000088"	"g.89337920C>T"	""	""	""	"TTC8(NM_001288781.1):c.1125C>T (p.N375=), TTC8(NM_001366535.2):c.1047C>T (p.N349=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88871576C>T"	""	"likely benign"	""
"0000553285"	"0"	"50"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"01943"	"TTC8_000029"	"g.89338702A>G"	""	""	""	"TTC8(NM_001288781.1):c.1301A>G (p.Q434R), TTC8(NM_001366535.2):c.1223A>G (p.Q408R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88872358A>G"	""	"VUS"	""
"0000553288"	"0"	"50"	"14"	"89338726"	"89338726"	"subst"	"4.06293E-6"	"01943"	"TTC8_000090"	"g.89338726A>T"	""	""	""	"TTC8(NM_001288781.1):c.1325A>T (p.N442I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88872382A>T"	""	"VUS"	""
"0000553289"	"0"	"30"	"14"	"89338776"	"89338776"	"subst"	"0.000719378"	"02330"	"TTC8_000091"	"g.89338776C>T"	""	""	""	"TTC8(NM_001288781.1):c.1375C>T (p.R459W), TTC8(NM_001366535.1):c.1297C>T (p.R433W), TTC8(NM_144596.2):c.1327C>T (p.(Arg443Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88872432C>T"	""	"likely benign"	""
"0000553290"	"0"	"50"	"14"	"89338776"	"89338776"	"subst"	"0.000719378"	"01804"	"TTC8_000091"	"g.89338776C>T"	""	""	""	"TTC8(NM_001288781.1):c.1375C>T (p.R459W), TTC8(NM_001366535.1):c.1297C>T (p.R433W), TTC8(NM_144596.2):c.1327C>T (p.(Arg443Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88872432C>T"	""	"VUS"	""
"0000657505"	"0"	"30"	"14"	"89319359"	"89319359"	"subst"	"0.000825646"	"02330"	"TTC8_000092"	"g.89319359G>A"	""	""	""	"TTC8(NM_001366535.2):c.639G>A (p.K213=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88853015G>A"	""	"likely benign"	""
"0000680073"	"0"	"50"	"14"	"89307769"	"89307769"	"subst"	"8.14538E-6"	"01943"	"TTC8_000057"	"g.89307769G>A"	""	""	""	"TTC8(NM_001288781.1):c.460G>A (p.A154T), TTC8(NM_144596.3):c.490G>A (p.A164T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680074"	"0"	"50"	"14"	"89338776"	"89338776"	"subst"	"0.000719378"	"01943"	"TTC8_000091"	"g.89338776C>T"	""	""	""	"TTC8(NM_001288781.1):c.1375C>T (p.R459W), TTC8(NM_001366535.1):c.1297C>T (p.R433W), TTC8(NM_144596.2):c.1327C>T (p.(Arg443Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691728"	"0"	"30"	"14"	"89307408"	"89307408"	"subst"	"0.000178961"	"01943"	"TTC8_000093"	"g.89307408T>C"	""	""	""	"TTC8(NM_144596.3):c.357T>C (p.I119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691729"	"0"	"50"	"14"	"89327676"	"89327676"	"subst"	"4.11865E-6"	"02325"	"TTC8_000094"	"g.89327676G>C"	""	""	""	"TTC8(NM_198309.3):c.879G>C (p.E293D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000710239"	"3"	"90"	"14"	"89319364"	"89319364"	"subst"	"0"	"00006"	"TTC8_000079"	"g.89319364G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PVS1, PM2, PP4"	"Germline"	""	""	"0"	""	""	"g.88853020G>A"	""	"pathogenic"	"ACMG"
"0000724907"	"0"	"90"	"14"	"89310195"	"89310195"	"subst"	"0"	"02330"	"TTC8_000034"	"g.89310195G>A"	""	""	""	"TTC8(NM_001288781.1):c.594+1G>A, TTC8(NM_144596.3):c.624+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000759725"	"21"	"50"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"00000"	"TTC8_000029"	"g.89338702A>G"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	"hypomorph"	"Germline"	""	""	"0"	""	""	"g.88872358A>G"	""	"VUS"	""
"0000784272"	"0"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"NM_198309.2:c.870_875delAATCT (p.I291*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000784289"	"0"	"50"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"NM_198309.2:c.115-7G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000784481"	"0"	"50"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"NM_198309.2:c.1433C>T (A478V)"	""	"Germline"	""	"rs199649536"	"0"	""	""	""	""	"VUS"	""
"0000784512"	"0"	"50"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"NM_198309.2:c.115-7G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785393"	"3"	"90"	"14"	"89341385"	"89341385"	"subst"	"1.6318E-5"	"00000"	"TTC8_000095"	"g.89341385C>A"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88875041C>A"	""	"pathogenic (recessive)"	""
"0000788443"	"0"	"50"	"14"	"89338734"	"89338734"	"subst"	"8.12651E-6"	"00000"	"TTC8_000096"	"g.89338734A>C"	""	"{PMID:Katagiri 2014:25268133}"	""	"NM_198309 :A1255C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000789876"	"0"	"50"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"00000"	"TTC8_000045"	"g.89307227A>G"	""	"{PMID:Avela 2019:31087526}"	""	"c.284A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000789877"	"0"	"50"	"14"	"89336490"	"89336490"	"subst"	"1.21988E-5"	"00000"	"TTC8_000097"	"g.89336490G>A"	""	"{PMID:Avela 2019:31087526}"	""	"c.997G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790482"	"0"	"50"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"00000"	"TTC8_000048"	"g.89319310C>T"	""	"{PMID:Wang 2014:25097241}"	""	"NM_198309.2:c.595-5C>T"	""	"Germline"	""	"rs137853922"	"0"	""	""	""	""	"VUS"	""
"0000790496"	"0"	"50"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"00000"	"TTC8_000048"	"g.89319310C>T"	""	"{PMID:Wang 2014:25097241}"	""	"NM_198309.2:c.595-5C>T"	""	"Germline"	""	"rs137853922"	"0"	""	""	""	""	"VUS"	""
"0000790599"	"0"	"50"	"14"	"89305845"	"89305845"	"subst"	"0.000833449"	"00000"	"TTC8_000052"	"g.89305845A>G"	""	"{PMID:Wang 2014:25097241}"	""	"NM_198309.2:c.164A>G"	""	"Germline"	""	"rs114557412"	"0"	""	""	""	""	"VUS"	""
"0000790621"	"0"	"50"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"00000"	"TTC8_000045"	"g.89307227A>G"	""	"{PMID:Wang 2014:25097241}"	""	"NM_198309.2:c.254A>G"	""	"Germline"	""	"rs150880478"	"0"	""	""	""	""	"VUS"	""
"0000793709"	"3"	"90"	"14"	"89300044"	"89300044"	"subst"	"0"	"00000"	"TTC8_000030"	"g.89300044G>A"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"122G/A (W41X)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793710"	"3"	"90"	"14"	"89327678"	"89327680"	"del"	"0"	"00000"	"TTC8_000098"	"g.89327678_89327680delTGC"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"IVS10+2_4delTGC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793711"	"3"	"90"	"14"	"89327678"	"89327680"	"del"	"0"	"00000"	"TTC8_000098"	"g.89327678_89327680delTGC"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"IVS10+2_4delTGC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000795057"	"3"	"90"	"14"	"89307511"	"89307511"	"subst"	"0"	"00000"	"TTC8_000030"	"g.89307511G>A"	""	"{PMID:M\'hamdi 2014:23432027}"	""	"c.459 +1G >A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796751"	"0"	"70"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"00000"	"TTC8_000029"	"g.89338702A>G"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1253A>G"	""	"Germline"	""	"rs142938748"	"0"	""	""	""	""	"likely pathogenic"	""
"0000796766"	"0"	"70"	"14"	"89307791"	"89307791"	"subst"	"0"	"00000"	"TTC8_000099"	"g.89307791A>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.512A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797213"	"3"	"70"	"14"	"89310156"	"89310159"	"del"	"0"	"00000"	"TTC8_000100"	"g.89310156_89310159del"	""	"{PMID:Ravesh 2018:30416334}"	""	"c.586_589delTTTG;p.(F196Sfs*56)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88843812_88843815del"	""	"likely pathogenic"	"ACMG"
"0000797635"	"0"	"70"	"14"	"89338776"	"89338776"	"subst"	"0.000719378"	"00000"	"TTC8_000091"	"g.89338776C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"EYS c.(2023+1_2024-1), _(3443+1_3444-1)del c.(2023+1_2024-1), _(3443+1_3444-1), del, TTC8 c.1297C>T, p.(Arg433Trp)"	""	"Germline"	"?"	""	"0"	""	""	"g.88872432C>T"	""	"likely pathogenic"	"ACMG"
"0000798090"	"0"	"50"	"14"	"89319310"	"89319310"	"subst"	"0.0086891"	"00000"	"TTC8_000048"	"g.89319310C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"TTC8 c.403G>A, p.(Ala135Thr), c.595-5C>T, p.(?), ARL6 c.(?_-1), _(*1_?), dup"	"different transcript: NM_198309.3(TTC8):c.595-5C>T"	"Germline"	"?"	""	"0"	""	""	"g.88852966C>T"	""	"VUS"	"ACMG"
"0000798091"	"0"	"50"	"14"	"89307484"	"89307484"	"subst"	"8.13935E-5"	"00000"	"TTC8_000074"	"g.89307484G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"TTC8 c.403G>A, p.(Ala135Thr), c.595-5C>T, p.(?), ARL6 c.(?_-1), _(*1_?), dup"	"different transcript: NM_198309.3(TTC8):c.403G>A"	"Germline"	"?"	""	"0"	""	""	"g.88841140G>A"	""	"VUS"	"ACMG"
"0000798093"	"0"	"70"	"14"	"89338776"	"89338776"	"subst"	"0.000719378"	"00000"	"TTC8_000091"	"g.89338776C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"TTC8 c.1297 C>T, p.(Arg433Trp)"	"different transcript: NM_198309.3(TTC8):c.1297C>T; single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.88872432C>T"	""	"likely pathogenic"	"ACMG"
"0000806527"	"0"	"30"	"14"	"89307231"	"89307231"	"subst"	"0"	"01943"	"TTC8_000101"	"g.89307231C>G"	""	""	""	"TTC8(NM_001288781.1):c.258C>G (p.L86=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806528"	"0"	"50"	"14"	"89341385"	"89341385"	"subst"	"1.6318E-5"	"01943"	"TTC8_000095"	"g.89341385C>A"	""	""	""	"TTC8(NM_001288781.1):c.1411C>A (p.Q471K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811061"	"3"	"50"	"14"	"89307212"	"89307212"	"subst"	"0"	"00000"	"TTC8_000102"	"g.89307212A>G"	""	"{PMID:Bin-2009:19402160}"	""	"*p.[N90S]+[=]"	"A not found at position given, found C instead."	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000811128"	"1"	"70"	"14"	"89310165"	"89310165"	"subst"	"0"	"00000"	"TTC8_000105"	"g.89310165G>A"	""	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	"BBS8:594+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811129"	"2"	"70"	"14"	"89310165"	"89310165"	"subst"	"0"	"00000"	"TTC8_000105"	"g.89310165G>A"	""	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	"BBS8:594+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811130"	"3"	"70"	"14"	"89307510"	"89307510"	"subst"	"0"	"00000"	"TTC8_000103"	"g.89307510G>A"	""	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	"BBS8:459G>A"	"G not found at position given, found C instead."	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811132"	"0"	"70"	"14"	"0"	"0"	"del"	"0"	"00000"	"TTC8_000104"	"g.?"	""	"{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}"	""	"BBS8: 594+1-2 delGT"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811718"	"0"	"50"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"00000"	"TTC8_000045"	"g.89307227A>G"	""	"{PMID:Manara 2019:31196119}"	""	"BBS8 c.254A>G, p.(Lys85Arg)"	"different transcript: NM_001288781.1(TTC8):c.254A>G, heterozygous"	"Germline"	"?"	"rs150880478"	"0"	""	""	"g.88840883A>G"	""	"VUS"	"ACMG"
"0000811828"	"0"	"70"	"10"	"89327564"	"89327564"	"subst"	"0"	"00000"	"TTC8_000001"	"g.89327564A>G"	""	"{PMID:Gao 2019:31054281}"	""	"c.847-2A>G"	"heterozygous, different transcript: NM_001288781.1(TTC8):c.847-2A>G"	"Germline"	"?"	""	"0"	""	""	"g.88861220A>G"	""	"likely pathogenic"	""
"0000813238"	"0"	"50"	"14"	"89338918"	"89338918"	"subst"	"0"	"00000"	"TTC8_000111"	"g.89338918T>C"	""	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.1347+122T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813306"	"0"	"50"	"14"	"89338817"	"89338817"	"subst"	"2.03325E-5"	"00000"	"TTC8_000110"	"g.89338817A>G"	""	"{PMID:Abu-Safieh-2012:22353939}"	""	"c.1347+21A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813312"	"0"	"50"	"14"	"89338817"	"89338817"	"subst"	"2.03325E-5"	"00000"	"TTC8_000110"	"g.89338817A>G"	""	"{PMID:Abu-Safieh-2012:22353939}"	""	"c.1347+21A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813335"	"0"	"50"	"14"	"89319475"	"89319475"	"subst"	"0"	"00000"	"TTC8_000049"	"g.89319475G>C"	""	"{PMID:Abu-Safieh-2012:22353939}"	""	"c.710+75G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813909"	"0"	"90"	"14"	"89336504"	"89336504"	"subst"	"0"	"00000"	"TTC8_000109"	"g.89336504C>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1011C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813921"	"0"	"30"	"14"	"89307456"	"89307456"	"subst"	"0"	"00000"	"TTC8_000108"	"g.89307456G>A"	""	"{PMID:Chen-2011:21642631}"	""	"c.405G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000813923"	"0"	"30"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"00000"	"TTC8_000045"	"g.89307227A>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.284A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000814020"	"3"	"90"	"14"	"89307273"	"89307273"	"subst"	"0"	"00000"	"TTC8_000107"	"g.89307273G>A"	""	"{PMID:Redin-2012:22773737}"	""	"c.[329+1G>A];[329+1G>A]"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000814033"	"3"	"70"	"14"	"89307510"	"89307510"	"subst"	"0"	"00000"	"TTC8_000103"	"g.89307510G>A"	""	"{PMID:Schaefer-2011:21044901}"	""	"c.459G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814062"	"3"	"90"	"14"	"89307511"	"89307511"	"subst"	"0"	"00000"	"TTC8_000030"	"g.89307511G>A"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.459+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814181"	"3"	"70"	"14"	"89305887"	"89305887"	"subst"	"0"	"00000"	"TTC8_000106"	"g.89305887G>A"	""	"{PMID:Deveault-2011:21344540}"	""	"M390R/M390R"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814182"	"3"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"Q247X/Q247X"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814183"	"3"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"K41fsX52/K41fsX52"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814248"	"0"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"(429delCT433delAG)"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814515"	"3"	"90"	"14"	"89300067"	"89300067"	"subst"	"0"	"00000"	"TTC8_000112"	"g.89300067G>A"	"0.042"	"{PMID:Janssen-2011:21052717}"	""	"c.IVS2+1G>A(H)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814517"	"0"	"90"	"14"	"89307536"	"89307536"	"del"	"0"	"00000"	"TTC8_000113"	"g.89307536del"	"0.024"	"{PMID:Janssen-2011:21052717}"	""	"c.485delG(h)"	"article states both mutated alleles detected, but only one is mentioned"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000815579"	"0"	"50"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"00000"	"TTC8_000029"	"g.89338702A>G"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"TTC8:NM_144596 c.A1253G, p.Q418R"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.88872358A>G"	""	"VUS"	"ACMG"
"0000818647"	"3"	"90"	"14"	"89338796"	"89338796"	"subst"	"0"	"00000"	"TTC8_000116"	"g.89338796G>C"	""	"{PMID:Ullah-2017:28761321}"	""	"c.1347G>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000818648"	"3"	"90"	"14"	"89338796"	"89338796"	"subst"	"0"	"00000"	"TTC8_000116"	"g.89338796G>C"	""	"{PMID:Ullah-2017:28761321}"	""	"c.1347G>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000818649"	"3"	"90"	"14"	"89338796"	"89338796"	"subst"	"0"	"00000"	"TTC8_000116"	"g.89338796G>C"	""	"{PMID:Ullah-2017:28761321}"	""	"c.1347G>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000819020"	"1"	"70"	"14"	"89305875"	"89305875"	"subst"	"0"	"00000"	"TTC8_000114"	"g.89305875C>T"	""	"{PMID:Hirano 2020:32451492}"	""	"BBS8 c.224C>T, c.308_309 insAT"	"no protein position written in publication"	"Germline"	"?"	""	"0"	""	""	"g.88839531C>T"	""	"likely pathogenic"	""
"0000819032"	"2"	"70"	"14"	"89307252"	"89307253"	"ins"	"0"	"00000"	"TTC8_000115"	"g.89307252_89307253insTA"	""	"{PMID:Hirano 2020:32451492}"	""	"BBS8 c.224C>T, c.308_309 insAT"	"no protein position written in publication"	"Germline"	"?"	""	"0"	""	""	"g.88840908_88840909insTA"	""	"likely pathogenic"	""
"0000827114"	"3"	"90"	"14"	"89307540"	"89307540"	"subst"	"4.88767E-5"	"00000"	"TTC8_000032"	"g.89307540G>A"	""	"{PMID:Jeziorny-2020:33138063}"	""	"BBS8:c.489G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000827126"	"0"	"50"	"14"	"89323548"	"89323548"	"subst"	"2.44371E-5"	"00000"	"TTC8_000117"	"g.89323548G>A"	""	"{PMID:Jeziorny-2020:33138063}"	""	"BBS8:c.725G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000827844"	"0"	"50"	"14"	"89338776"	"89338776"	"subst"	"0.000719378"	"00000"	"TTC8_000091"	"g.89338776C>T"	""	"{PMID:Zacchia 2021:33964006}"	""	"TTC8 c.C733T, p.R245W"	"different transctipt, NM_001288782.1(TTC8):c.733C>T, p.(Arg245Trp), heterozygous; unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.88872432C>T"	""	"VUS"	"ACMG"
"0000846906"	"0"	"50"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"00000"	"TTC8_000045"	"g.89307227A>G"	"gnomAD 0% in Finnish, all 0.0032%; not in HGMD"	"{PMID:Avela 2019:31087526}"	""	"TTC8 c.284A>G , p.(Lys95Arg)"	"single heterozygous variant in a recessive disease"	"Germline"	"yes"	""	"0"	""	""	"g.88840883A>G"	""	"VUS"	""
"0000846907"	"0"	"50"	"14"	"89336490"	"89336490"	"subst"	"1.21988E-5"	"00000"	"TTC8_000097"	"g.89336490G>A"	"gnomAD 0% in Finnish, all 0.0016%; not in HGMD"	"{PMID:Avela 2019:31087526}"	""	"TTC8 c.997G>A , p.(Gly333Arg)"	"single heterozygous variant in a recessive disease"	"Germline"	"yes"	""	"0"	""	""	"g.88870146G>A"	""	"VUS"	""
"0000853912"	"0"	"30"	"14"	"89307474"	"89307474"	"subst"	"0"	"01943"	"TTC8_000118"	"g.89307474A>C"	""	""	""	"TTC8(NM_144596.3):c.423A>C (p.T141=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853913"	"0"	"50"	"14"	"89307539"	"89307539"	"subst"	"3.25815E-5"	"01943"	"TTC8_000119"	"g.89307539C>T"	""	""	""	"TTC8(NM_144596.3):c.488C>T (p.T163M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853914"	"0"	"30"	"14"	"89307850"	"89307850"	"subst"	"4.07266E-6"	"01943"	"TTC8_000120"	"g.89307850T>C"	""	""	""	"TTC8(NM_001366535.1):c.541T>C (p.L181=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853915"	"0"	"30"	"14"	"89337920"	"89337920"	"subst"	"0.00145159"	"02326"	"TTC8_000088"	"g.89337920C>T"	""	""	""	"TTC8(NM_001288781.1):c.1125C>T (p.N375=), TTC8(NM_001366535.2):c.1047C>T (p.N349=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853916"	"0"	"30"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"02326"	"TTC8_000029"	"g.89338702A>G"	""	""	""	"TTC8(NM_001288781.1):c.1301A>G (p.Q434R), TTC8(NM_001366535.2):c.1223A>G (p.Q408R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863704"	"0"	"50"	"14"	"89307484"	"89307484"	"subst"	"8.13935E-5"	"01943"	"TTC8_000074"	"g.89307484G>A"	""	""	""	"TTC8(NM_001366535.1):c.403G>A (p.A135T), TTC8(NM_144596.4):c.433G>A (p.(Ala145Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863705"	"0"	"50"	"14"	"89307859"	"89307859"	"subst"	"0"	"02330"	"TTC8_000121"	"g.89307859G>A"	""	""	""	"TTC8(NM_001288782.1):c.-13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863706"	"0"	"30"	"14"	"89343670"	"89343670"	"subst"	"0.00454431"	"02326"	"TTC8_000056"	"g.89343670G>C"	""	""	""	"TTC8(NM_001366535.2):c.1350G>C (p.A450=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000871941"	"3"	"70"	"14"	"89338796"	"89338796"	"subst"	"0"	"00000"	"TTC8_000116"	"g.89338796G>C"	""	"{PMID:Goyal 2016:26195043}"	""	"TTC8 c.1347G>C (p.Gln449His)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88872452G>C"	""	"likely pathogenic (recessive)"	""
"0000871942"	"3"	"70"	"14"	"89338796"	"89338796"	"subst"	"0"	"00000"	"TTC8_000116"	"g.89338796G>C"	""	"{PMID:Goyal 2016:26195043}"	""	"TTC8 c.1347G>C (p.Gln449His)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88872452G>C"	""	"likely pathogenic (recessive)"	""
"0000871943"	"3"	"70"	"14"	"89338796"	"89338796"	"subst"	"0"	"00000"	"TTC8_000116"	"g.89338796G>C"	""	"{PMID:Goyal 2016:26195043}"	""	"TTC8 c.1347G>C (p.Gln449His)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88872452G>C"	""	"likely pathogenic (recessive)"	""
"0000871944"	"1"	"70"	"14"	"89305907"	"89305907"	"subst"	"0"	"00000"	"TTC8_000122"	"g.89305907C>T"	""	"{PMID:Sato 2019:30886724}"	""	"TTC8 NM_001288781.1:c.226C>T, p.Q76X"	"heterozygous; different transcript in paper"	"Germline"	"yes"	""	"0"	""	""	"g.88839563C>T"	""	"likely pathogenic (recessive)"	""
"0000871945"	"2"	"70"	"14"	"89307390"	"89307391"	"ins"	"0"	"00000"	"TTC8_000123"	"g.89307390_89307391insTA"	""	"{PMID:Sato 2019:30886724}"	""	"TTC8 NM_001288781.1:c.309_310insTA, p.T103fs"	"heterozygous; different transcript in paper"	"Germline"	"yes"	""	"0"	""	""	"g.88841046_88841047insTA"	""	"likely pathogenic (recessive)"	""
"0000891921"	"0"	"30"	"14"	"89307242"	"89307242"	"subst"	"0.000475563"	"02326"	"TTC8_000082"	"g.89307242A>G"	""	""	""	"TTC8(NM_001366535.2):c.269A>G (p.N90S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891922"	"0"	"30"	"14"	"89338702"	"89338702"	"subst"	"0.00296161"	"02330"	"TTC8_000029"	"g.89338702A>G"	""	""	""	"TTC8(NM_001288781.1):c.1301A>G (p.Q434R), TTC8(NM_001366535.2):c.1223A>G (p.Q408R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891923"	"0"	"30"	"14"	"89341423"	"89341423"	"subst"	"0.000859912"	"02326"	"TTC8_000067"	"g.89341423G>A"	""	""	""	"TTC8(NM_001288781.1):c.1449G>A (p.P483=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891924"	"0"	"30"	"14"	"89343847"	"89343847"	"subst"	"0"	"02326"	"TTC8_000124"	"g.89343847G>A"	""	""	""	"TTC8(NR_159362.2):n.1728G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914245"	"0"	"90"	"14"	"89307838"	"89307838"	"subst"	"4.07193E-6"	"02330"	"TTC8_000084"	"g.89307838C>T"	""	""	""	"TTC8(NM_001366535.2):c.529C>T (p.Q177*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000958046"	"3"	"90"	"14"	"89310156"	"89310159"	"del"	"0"	"00006"	"TTC8_000100"	"g.89310156_89310159del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88843812_88843815del"	""	"pathogenic (recessive)"	"ACMG"
"0000959249"	"3"	"50"	"14"	"89336515"	"89336515"	"subst"	"0"	"00006"	"TTC8_000125"	"g.89336515A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.88870171A>G"	""	"VUS"	"ACMG"
"0000967599"	"0"	"30"	"14"	"89327694"	"89327694"	"subst"	"0.000485823"	"02330"	"TTC8_000126"	"g.89327694T>C"	""	""	""	"TTC8(NM_001366535.2):c.879+18T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981050"	"0"	"50"	"14"	"89307484"	"89307484"	"subst"	"8.13935E-5"	"01804"	"TTC8_000074"	"g.89307484G>A"	""	""	""	"TTC8(NM_001366535.1):c.403G>A (p.A135T), TTC8(NM_144596.4):c.433G>A (p.(Ala145Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981051"	"0"	"30"	"14"	"89341460"	"89341460"	"subst"	"0"	"01804"	"TTC8_000127"	"g.89341460T>C"	""	""	""	"TTC8(NM_144596.4):c.1431+7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026408"	"0"	"30"	"14"	"89307227"	"89307227"	"subst"	"0.00542687"	"01943"	"TTC8_000045"	"g.89307227A>G"	""	""	""	"TTC8(NM_001288781.1):c.254A>G (p.K85R, p.(Lys85Arg)), TTC8(NM_144596.3):c.284A>G (p.K95R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040139"	"0"	"30"	"14"	"89291113"	"89291113"	"subst"	"0"	"01804"	"TTC8_000128"	"g.89291113A>T"	""	""	""	"TTC8(NM_144596.4):c.62A>T (p.(Gln21Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040140"	"0"	"70"	"14"	"89336408"	"89336408"	"del"	"1.22093E-5"	"01804"	"TTC8_000087"	"g.89336408del"	""	""	""	"TTC8(NM_144596.4):c.915del (p.(Met305Ilefs*15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes TTC8
## Count = 183
"{{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}}"
"0000046845"	"00022015"	"70"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	"13"
"0000079392"	"00022015"	"00"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	""
"0000091094"	"00022015"	"90"	"589"	"0"	"594"	"0"	"c.589_594del"	"r.(?)"	"p.(Glu197_Tyr198del)"	"7"
"0000091095"	"00022015"	"90"	"589"	"0"	"594"	"0"	"c.589_594del"	"r.(?)"	"p.(Glu197_Tyr198del)"	"7"
"0000091096"	"00022015"	"90"	"1049"	"2"	"1049"	"4"	"c.1049+2_1049+4del"	"r.0"	"p.0"	"11i"
"0000091097"	"00022015"	"90"	"489"	"0"	"489"	"0"	"c.489G>A"	"r.spl?"	"p.(Thr163=)"	"5"
"0000091098"	"00022015"	"90"	"624"	"1"	"624"	"1"	"c.624+1G>A"	"r.spl?"	"p.?"	"7i"
"0000091099"	"00022015"	"90"	"624"	"1"	"624"	"2"	"c.624+1_624+2del"	"r.spl?"	"p.?"	"7i"
"0000091100"	"00022015"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(=)"	"p.(=)"	"-"
"0000091101"	"00022015"	"90"	"400"	"0"	"401"	"0"	"c.400_401insGGTGGAAGGCCAGGCA"	"r.(?)"	"p.(Thr134Argfs*43)"	"5"
"0000091102"	"00022015"	"90"	"489"	"1"	"489"	"1"	"c.489+1G>A"	"r.spl?"	"p.?"	"5i"
"0000091103"	"00022015"	"90"	"489"	"1"	"489"	"1"	"c.489+1G>A"	"r.spl?"	"p.?"	"5i"
"0000091104"	"00022015"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"-"
"0000091105"	"00022015"	"10"	"624"	"67"	"624"	"67"	"c.624+67A>G"	"r.(=)"	"p.(=)"	"7i"
"0000091106"	"00022015"	"10"	"910"	"-170"	"910"	"-170"	"c.910-170T>C"	"r.(=)"	"p.(=)"	"10i"
"0000091107"	"00022015"	"10"	"1432"	"-5"	"1432"	"-5"	"c.1432-5T>G"	"r.spl?"	"p.?"	"14i"
"0000091108"	"00022015"	"50"	"624"	"67"	"624"	"67"	"c.624+67A>G"	"r.(=)"	"p.(=)"	"7i"
"0000091109"	"00022015"	"10"	"265"	"49"	"265"	"82"	"c.265+49_265+82del"	"r.(=)"	"p.(=)"	"3i"
"0000091110"	"00022015"	"10"	"265"	"71"	"265"	"71"	"c.265+71del"	"r.(=)"	"p.(=)"	"3i"
"0000091111"	"00022015"	"10"	"267"	"0"	"267"	"0"	"c.267C>A"	"r.(=)"	"p.(=)"	"4"
"0000091112"	"00022015"	"10"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	"4"
"0000091113"	"00022015"	"10"	"580"	"-46"	"580"	"-45"	"c.580-46_580-45insA"	"r.(=)"	"p.(=)"	"6i"
"0000091114"	"00022015"	"10"	"625"	"-81"	"625"	"-81"	"c.625-81A>G"	"r.(=)"	"p.(=)"	"7i"
"0000091115"	"00022015"	"10"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.spl?"	"p.?"	"7i"
"0000091116"	"00022015"	"10"	"710"	"75"	"710"	"75"	"c.710+75G>C"	"r.(=)"	"p.(=)"	"8i"
"0000091117"	"00022015"	"10"	"710"	"78"	"710"	"78"	"c.710+78G>A"	"r.(=)"	"p.(=)"	"8i"
"0000091118"	"00022015"	"10"	"710"	"80"	"710"	"80"	"c.710+80G>C"	"r.(=)"	"p.(=)"	"8i"
"0000091119"	"00022015"	"10"	"910"	"-51"	"910"	"-51"	"c.910-51T>C"	"r.(=)"	"p.(=)"	"10i"
"0000091120"	"00022015"	"10"	"1431"	"81"	"1431"	"81"	"c.1431+81A>G"	"r.(=)"	"p.(=)"	"14i"
"0000091121"	"00022015"	"10"	"1432"	"-12"	"1432"	"-12"	"c.1432-12T>C"	"r.(=)"	"p.(=)"	"14i"
"0000091122"	"00022015"	"10"	"265"	"71"	"265"	"71"	"c.265+71del"	"r.(=)"	"p.(=)"	"3i"
"0000091123"	"00022015"	"10"	"580"	"-46"	"580"	"-45"	"c.580-46_580-45insA"	"r.(=)"	"p.(=)"	"6i"
"0000091124"	"00022015"	"10"	"624"	"67"	"624"	"67"	"c.624+67A>G"	"r.(=)"	"p.(=)"	"7i"
"0000091125"	"00022015"	"10"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.spl?"	"p.?"	"7i"
"0000091126"	"00022015"	"10"	"625"	"-81"	"625"	"-81"	"c.625-81A>G"	"r.(=)"	"p.(=)"	"7i"
"0000091127"	"00022015"	"10"	"710"	"75"	"710"	"75"	"c.710+75G>C"	"r.(=)"	"p.(=)"	"8i"
"0000091128"	"00022015"	"10"	"910"	"-51"	"910"	"-51"	"c.910-51T>C"	"r.(=)"	"p.(=)"	"10i"
"0000091129"	"00022015"	"10"	"1348"	"-57"	"1348"	"-57"	"c.1348-57G>C"	"r.(=)"	"p.(=)"	"13i"
"0000091130"	"00022015"	"10"	"1348"	"-68"	"1348"	"-67"	"c.1348-68_1348-67del"	"r.(=)"	"p.(=)"	"13i"
"0000091131"	"00022015"	"10"	"1348"	"-79"	"1348"	"-76"	"c.1348-79_1348-76delinsCCC"	"r.(=)"	"p.(=)"	"13i"
"0000091132"	"00022015"	"90"	"115"	"-2"	"115"	"-2"	"c.115-2A>G"	"r.115_144del"	"p.Glu39_Gln38del"	"1i"
"0000162801"	"00022015"	"90"	"115"	"-2"	"115"	"-2"	"c.115-2A>G"	"r.spl"	"p.?"	"1i"
"0000247231"	"00022015"	"10"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	""
"0000250752"	"00022015"	"10"	"194"	"0"	"194"	"0"	"c.194A>G"	"r.(?)"	"p.(Asp65Gly)"	""
"0000251572"	"00022015"	"10"	"580"	"-34"	"580"	"-34"	"c.580-34del"	"r.(=)"	"p.(=)"	""
"0000251735"	"00022015"	"30"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	""
"0000253971"	"00022015"	"30"	"194"	"0"	"194"	"0"	"c.194A>G"	"r.(?)"	"p.(Asp65Gly)"	""
"0000254509"	"00022015"	"30"	"624"	"2748"	"624"	"2748"	"c.624+2748A>G"	"r.(=)"	"p.(=)"	""
"0000255090"	"00022015"	"30"	"1417"	"0"	"1417"	"0"	"c.1417A>G"	"r.(?)"	"p.(Thr473Ala)"	""
"0000309714"	"00022015"	"10"	"975"	"0"	"975"	"0"	"c.975T>C"	"r.(?)"	"p.(His325=)"	""
"0000309715"	"00022015"	"30"	"1294"	"0"	"1294"	"0"	"c.1294G>A"	"r.(?)"	"p.(Glu432Lys)"	""
"0000309716"	"00022015"	"10"	"1401"	"0"	"1401"	"0"	"c.1401G>A"	"r.(?)"	"p.(Pro467=)"	""
"0000309717"	"00022015"	"30"	"490"	"0"	"490"	"0"	"c.490G>A"	"r.(?)"	"p.(Ala164Thr)"	""
"0000314908"	"00022015"	"10"	"115"	"-2833"	"115"	"-2833"	"c.115-2833G>A"	"r.(=)"	"p.(=)"	""
"0000314909"	"00022015"	"10"	"1463"	"0"	"1463"	"0"	"c.1463C>T"	"r.(?)"	"p.(Ala488Val)"	""
"0000314910"	"00022015"	"10"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.spl?"	"p.?"	""
"0000314911"	"00022015"	"90"	"624"	"1"	"624"	"1"	"c.624+1G>A"	"r.spl?"	"p.?"	""
"0000314912"	"00022015"	"10"	"1432"	"-12"	"1432"	"-12"	"c.1432-12T>C"	"r.(=)"	"p.(=)"	""
"0000318051"	"00022015"	"30"	"114"	"6"	"114"	"6"	"c.114+6G>A"	"r.(=)"	"p.(=)"	""
"0000318052"	"00022015"	"30"	"1290"	"0"	"1290"	"0"	"c.1290C>T"	"r.(?)"	"p.(His430=)"	""
"0000318053"	"00022015"	"50"	"1352"	"0"	"1352"	"0"	"c.1352G>A"	"r.(?)"	"p.(Arg451Lys)"	""
"0000318054"	"00022015"	"10"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.spl?"	"p.?"	""
"0000318055"	"00022015"	"30"	"625"	"-12"	"625"	"-12"	"c.625-12T>C"	"r.(=)"	"p.(=)"	""
"0000318056"	"00022015"	"10"	"1432"	"-12"	"1432"	"-12"	"c.1432-12T>C"	"r.(=)"	"p.(=)"	""
"0000323792"	"00022015"	"50"	"194"	"0"	"194"	"0"	"c.194A>G"	"r.(?)"	"p.(Asp65Gly)"	""
"0000323793"	"00022015"	"50"	"220"	"0"	"220"	"0"	"c.220A>G"	"r.(?)"	"p.(Ile74Val)"	""
"0000323795"	"00022015"	"30"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	""
"0000323796"	"00022015"	"50"	"607"	"0"	"607"	"0"	"c.607G>A"	"r.(?)"	"p.(Glu203Lys)"	""
"0000477071"	"00022015"	"50"	"5"	"0"	"5"	"0"	"c.5G>A"	"r.(?)"	"p.(Ser2Asn)"	""
"0000477072"	"00022015"	"50"	"80"	"0"	"80"	"0"	"c.80G>A"	"r.(?)"	"p.(Cys27Tyr)"	""
"0000477073"	"00022015"	"50"	"151"	"0"	"151"	"0"	"c.151T>C"	"r.(?)"	"p.(Trp51Arg)"	""
"0000477074"	"00022015"	"50"	"265"	"0"	"265"	"0"	"c.265C>T"	"r.(?)"	"p.(Arg89Cys)"	""
"0000477075"	"00022015"	"50"	"358"	"0"	"358"	"0"	"c.358A>G"	"r.(?)"	"p.(Thr120Ala)"	""
"0000477076"	"00022015"	"50"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Ala145Thr)"	""
"0000477077"	"00022015"	"50"	"476"	"0"	"476"	"0"	"c.476T>C"	"r.(?)"	"p.(Val159Ala)"	""
"0000477078"	"00022015"	"50"	"536"	"0"	"536"	"0"	"c.536G>A"	"r.(?)"	"p.(Arg179Lys)"	""
"0000477079"	"00022015"	"50"	"958"	"0"	"958"	"0"	"c.958A>G"	"r.(?)"	"p.(Lys320Glu)"	""
"0000477080"	"00022015"	"50"	"1463"	"0"	"1463"	"0"	"c.1463C>T"	"r.(?)"	"p.(Ala488Val)"	""
"0000477081"	"00022015"	"50"	"1493"	"0"	"1493"	"0"	"c.1493A>T"	"r.(?)"	"p.(His498Leu)"	""
"0000487582"	"00022015"	"90"	"674"	"0"	"674"	"0"	"c.674G>A"	"r.(?)"	"p.(Trp225*)"	"8"
"0000553276"	"00022015"	"10"	"330"	"-15"	"330"	"-15"	"c.330-15T>A"	"r.(=)"	"p.(=)"	""
"0000553277"	"00022015"	"90"	"559"	"0"	"559"	"0"	"c.559C>T"	"r.(?)"	"p.(Gln187Ter)"	""
"0000553278"	"00022015"	"50"	"662"	"0"	"662"	"0"	"c.662A>G"	"r.(?)"	"p.(Gln221Arg)"	""
"0000553279"	"00022015"	"90"	"915"	"0"	"915"	"0"	"c.915del"	"r.(?)"	"p.(Met305IlefsTer15)"	""
"0000553280"	"00022015"	"10"	"1077"	"0"	"1077"	"0"	"c.1077C>T"	"r.(?)"	"p.(Asn359=)"	""
"0000553281"	"00022015"	"30"	"1077"	"0"	"1077"	"0"	"c.1077C>T"	"r.(?)"	"p.(Asn359=)"	""
"0000553285"	"00022015"	"50"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	""
"0000553288"	"00022015"	"50"	"1277"	"0"	"1277"	"0"	"c.1277A>T"	"r.(?)"	"p.(Asn426Ile)"	""
"0000553289"	"00022015"	"30"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Arg443Trp)"	""
"0000553290"	"00022015"	"50"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Arg443Trp)"	""
"0000657505"	"00022015"	"30"	"669"	"0"	"669"	"0"	"c.669G>A"	"r.(?)"	"p.(Lys223=)"	""
"0000680073"	"00022015"	"50"	"490"	"0"	"490"	"0"	"c.490G>A"	"r.(?)"	"p.(Ala164Thr)"	""
"0000680074"	"00022015"	"50"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Arg443Trp)"	""
"0000691728"	"00022015"	"30"	"357"	"0"	"357"	"0"	"c.357T>C"	"r.(?)"	"p.(Ile119=)"	""
"0000691729"	"00022015"	"50"	"909"	"0"	"909"	"0"	"c.909G>C"	"r.(?)"	"p.(Glu303Asp)"	""
"0000710239"	"00022015"	"90"	"674"	"0"	"674"	"0"	"c.674G>A"	"r.(?)"	"p.(Trp225*)"	""
"0000724907"	"00022015"	"90"	"624"	"1"	"624"	"1"	"c.624+1G>A"	"r.spl?"	"p.?"	""
"0000759725"	"00022015"	"50"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	""
"0000784272"	"00022015"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000784289"	"00022015"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(=)"	"p.(=)"	""
"0000784481"	"00022015"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000784512"	"00022015"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(=)"	"p.(=)"	""
"0000785393"	"00022015"	"90"	"1363"	"0"	"1363"	"0"	"c.1363C>A"	"r.(?)"	"p.(Gln455Lys)"	""
"0000788443"	"00022015"	"50"	"1285"	"0"	"1285"	"0"	"c.1285A>C"	"r.(?)"	"p.(Asn429His)"	"12"
"0000789876"	"00022015"	"50"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	"4"
"0000789877"	"00022015"	"50"	"997"	"0"	"997"	"0"	"c.997G>A"	"r.(?)"	"p.(Gly333Arg)"	"12"
"0000790482"	"00022015"	"50"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.(?)"	"p.(=)"	""
"0000790496"	"00022015"	"50"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.(?)"	"p.(=)"	""
"0000790599"	"00022015"	"50"	"194"	"0"	"194"	"0"	"c.194A>G"	"r.(?)"	"p.(?)"	""
"0000790621"	"00022015"	"50"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(?)"	""
"0000793709"	"00022015"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"2"
"0000793710"	"00022015"	"90"	"909"	"2"	"909"	"4"	"c.909+2_909+4delTGC"	"r.spl?"	"p.?"	"11i"
"0000793711"	"00022015"	"90"	"909"	"2"	"909"	"4"	"c.909+2_909+4delTGC"	"r.spl?"	"p.?"	"11i"
"0000795057"	"00022015"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.spl?"	"p.?"	"5"
"0000796751"	"00022015"	"70"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Asn418Ser)"	"13"
"0000796766"	"00022015"	"70"	"512"	"0"	"512"	"0"	"c.512A>T"	"r.(?)"	"p.(Asp171Val)"	"6"
"0000797213"	"00022015"	"70"	"586"	"0"	"589"	"0"	"c.586_589del"	"r.(?)"	"p.(Phe196SerfsTer56)"	""
"0000797635"	"00022015"	"70"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Arg443Trp)"	""
"0000798090"	"00022015"	"50"	"625"	"-5"	"625"	"-5"	"c.625-5C>T"	"r.spl?"	"p.(?)"	""
"0000798091"	"00022015"	"50"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Ala145Thr)"	""
"0000798093"	"00022015"	"70"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Arg443Trp)"	""
"0000806527"	"00022015"	"30"	"288"	"0"	"288"	"0"	"c.288C>G"	"r.(?)"	"p.(Leu96=)"	""
"0000806528"	"00022015"	"50"	"1363"	"0"	"1363"	"0"	"c.1363C>A"	"r.(?)"	"p.(Gln455Lys)"	""
"0000811061"	"00022015"	"50"	"269"	"0"	"269"	"0"	"c.269A>G"	"r.(?)"	"p.?"	"4"
"0000811128"	"00022015"	"70"	"594"	"1"	"594"	"1"	"c.594+1G>A"	"r.spl?"	"p.?"	"7"
"0000811129"	"00022015"	"70"	"594"	"1"	"594"	"1"	"c.594+1G>A"	"r.spl?"	"p.?"	"7"
"0000811130"	"00022015"	"70"	"459"	"0"	"459"	"0"	"c.459G>A"	"r.(?)"	"p.?"	"5"
"0000811132"	"00022015"	"70"	"594"	"-1"	"594"	"2"	"c.594-1_594+2delGT"	"r.spl?"	"p.?"	"7"
"0000811718"	"00022015"	"50"	"284"	"0"	"284"	"0"	"c.284A>G"	"p.(Lys95Arg)"	"p.(Lys95Arg)"	"4"
"0000811828"	"00022015"	"70"	"799"	"-2"	"799"	"-2"	"c.799-2A>G"	"r.spl"	"p.(?)"	""
"0000813238"	"00022015"	"50"	"1347"	"122"	"1347"	"122"	"c.1347+122T>C"	"r.spl?"	"p.?"	"14i"
"0000813306"	"00022015"	"50"	"1347"	"21"	"1347"	"21"	"c.1347+21A>G"	"r.spl?"	"p.?"	"14i"
"0000813312"	"00022015"	"50"	"1347"	"21"	"1347"	"21"	"c.1347+21A>G"	"r.spl?"	"p.?"	"14i"
"0000813335"	"00022015"	"50"	"710"	"75"	"710"	"75"	"c.710+75G>C"	"r.spl?"	"p.?"	"9i"
"0000813909"	"00022015"	"90"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.?"	"12"
"0000813921"	"00022015"	"30"	"405"	"0"	"405"	"0"	"c.405G>A"	"r.(?)"	"p.(Met135Ile)"	"5"
"0000813923"	"00022015"	"30"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	"4"
"0000814020"	"00022015"	"90"	"329"	"1"	"329"	"1"	"c.329+1G>A"	"r.spl?"	"p.?"	"4i"
"0000814033"	"00022015"	"70"	"459"	"0"	"459"	"0"	"c.459G>A"	"r.(?)"	"p.?"	"5"
"0000814062"	"00022015"	"90"	"459"	"1"	"459"	"1"	"c.459+1G>A"	"r.(?)"	"p.?"	"5"
"0000814181"	"00022015"	"70"	"235"	"1"	"235"	"1"	"c.235+1G>A"	"r.(?)"	"p.?"	"3"
"0000814182"	"00022015"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814183"	"00022015"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814248"	"00022015"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814515"	"00022015"	"90"	"144"	"1"	"144"	"1"	"c.144+1G>A"	"r.spl?"	"p.?"	"2i"
"0000814517"	"00022015"	"90"	"485"	"0"	"485"	"0"	"c.485del"	"r.(?)"	"p.(Gly162Glufs*14)"	"5"
"0000815579"	"00022015"	"50"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	""
"0000818647"	"00022015"	"90"	"1347"	"0"	"1347"	"0"	"c.1347G>C"	"r.(?)"	"p.(Gln449His)"	"14"
"0000818648"	"00022015"	"90"	"1347"	"0"	"1347"	"0"	"c.1347G>C"	"r.(?)"	"p.(Gln449His)"	"14"
"0000818649"	"00022015"	"90"	"1347"	"0"	"1347"	"0"	"c.1347G>C"	"r.(?)"	"p.(Gln449His)"	"14"
"0000819020"	"00022015"	"70"	"224"	"0"	"224"	"0"	"c.224C>T"	"r.(?)"	"p.(Ala75Val)"	""
"0000819032"	"00022015"	"70"	"308"	"0"	"309"	"0"	"c.308_309insAT"	"r.(?)"	"p.(Gly104*)"	""
"0000827114"	"00022015"	"90"	"489"	"0"	"489"	"0"	"c.489G>A"	"r.(=)"	"p.(=)"	"5"
"0000827126"	"00022015"	"50"	"725"	"0"	"725"	"0"	"c.725G>A"	"r.(?)"	"p.(Arg242His)"	"9"
"0000827844"	"00022015"	"50"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Arg443Trp)"	""
"0000846906"	"00022015"	"50"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	""
"0000846907"	"00022015"	"50"	"997"	"0"	"997"	"0"	"c.997G>A"	"r.(?)"	"p.(Gly333Arg)"	""
"0000853912"	"00022015"	"30"	"423"	"0"	"423"	"0"	"c.423A>C"	"r.(?)"	"p.(Thr141=)"	""
"0000853913"	"00022015"	"50"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.(Thr163Met)"	""
"0000853914"	"00022015"	"30"	"571"	"0"	"571"	"0"	"c.571T>C"	"r.(?)"	"p.(Leu191=)"	""
"0000853915"	"00022015"	"30"	"1077"	"0"	"1077"	"0"	"c.1077C>T"	"r.(?)"	"p.(Asn359=)"	""
"0000853916"	"00022015"	"30"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	""
"0000863704"	"00022015"	"50"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Ala145Thr)"	""
"0000863705"	"00022015"	"50"	"579"	"1"	"579"	"1"	"c.579+1G>A"	"r.spl?"	"p.?"	""
"0000863706"	"00022015"	"30"	"1464"	"0"	"1464"	"0"	"c.1464G>C"	"r.(?)"	"p.(Ala488=)"	""
"0000871941"	"00022015"	"70"	"1347"	"0"	"1347"	"0"	"c.1347G>C"	"r.(?)"	"p.(Gln449His)"	"13"
"0000871942"	"00022015"	"70"	"1347"	"0"	"1347"	"0"	"c.1347G>C"	"r.(?)"	"p.(Gln449His)"	"13"
"0000871943"	"00022015"	"70"	"1347"	"0"	"1347"	"0"	"c.1347G>C"	"r.(?)"	"p.(Gln449His)"	"13"
"0000871944"	"00022015"	"70"	"256"	"0"	"256"	"0"	"c.256C>T"	"r.(?)"	"p.(Gln86*)"	"3"
"0000871945"	"00022015"	"70"	"339"	"0"	"340"	"0"	"c.339_340insTA"	"r.(?)"	"p.(Gln114Tyrfs*63)"	"5"
"0000891921"	"00022015"	"30"	"299"	"0"	"299"	"0"	"c.299A>G"	"r.(?)"	"p.(Asn100Ser)"	""
"0000891922"	"00022015"	"30"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Gln418Arg)"	""
"0000891923"	"00022015"	"30"	"1401"	"0"	"1401"	"0"	"c.1401G>A"	"r.(?)"	"p.(Pro467=)"	""
"0000891924"	"00022015"	"30"	"1641"	"0"	"1641"	"0"	"c.*93G>A"	"r.(=)"	"p.(=)"	""
"0000914245"	"00022015"	"90"	"559"	"0"	"559"	"0"	"c.559C>T"	"r.(?)"	"p.(Gln187Ter)"	""
"0000958046"	"00022015"	"90"	"586"	"0"	"589"	"0"	"c.586_589del"	"r.(?)"	"p.(Phe196SerfsTer56)"	""
"0000959249"	"00022015"	"50"	"1022"	"0"	"1022"	"0"	"c.1022A>G"	"r.(?)"	"p.(Gln341Arg)"	""
"0000967599"	"00022015"	"30"	"909"	"18"	"909"	"18"	"c.909+18T>C"	"r.(=)"	"p.(=)"	""
"0000981050"	"00022015"	"50"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Ala145Thr)"	""
"0000981051"	"00022015"	"30"	"1431"	"7"	"1431"	"7"	"c.1431+7T>C"	"r.(=)"	"p.(=)"	""
"0001026408"	"00022015"	"30"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Lys95Arg)"	""
"0001040139"	"00022015"	"30"	"62"	"0"	"62"	"0"	"c.62A>T"	"r.(?)"	"p.(Gln21Leu)"	""
"0001040140"	"00022015"	"70"	"915"	"0"	"915"	"0"	"c.915del"	"r.(?)"	"p.(Met305IlefsTer15)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 119
"{{screeningid}}"	"{{variantid}}"
"0000050412"	"0000079392"
"0000059875"	"0000091094"
"0000059876"	"0000091095"
"0000059877"	"0000091096"
"0000059878"	"0000091097"
"0000059879"	"0000091098"
"0000059880"	"0000091101"
"0000059881"	"0000091102"
"0000059882"	"0000091103"
"0000059883"	"0000091105"
"0000059884"	"0000091132"
"0000060161"	"0000091099"
"0000060161"	"0000091100"
"0000060162"	"0000091104"
"0000060163"	"0000091106"
"0000060164"	"0000091107"
"0000060165"	"0000091108"
"0000060166"	"0000091109"
"0000060167"	"0000091110"
"0000060168"	"0000091111"
"0000060169"	"0000091112"
"0000060170"	"0000091113"
"0000060171"	"0000091114"
"0000060172"	"0000091115"
"0000060173"	"0000091116"
"0000060174"	"0000091117"
"0000060175"	"0000091118"
"0000060176"	"0000091119"
"0000060177"	"0000091120"
"0000060178"	"0000091121"
"0000060179"	"0000091122"
"0000060180"	"0000091123"
"0000060181"	"0000091124"
"0000060182"	"0000091125"
"0000060183"	"0000091126"
"0000060184"	"0000091127"
"0000060185"	"0000091128"
"0000060186"	"0000091129"
"0000060187"	"0000091130"
"0000060188"	"0000091131"
"0000100503"	"0000162801"
"0000234363"	"0000477071"
"0000234364"	"0000477072"
"0000234365"	"0000477073"
"0000234366"	"0000477074"
"0000234367"	"0000477075"
"0000234368"	"0000477076"
"0000234369"	"0000477077"
"0000234370"	"0000477078"
"0000234371"	"0000477079"
"0000234372"	"0000477080"
"0000234373"	"0000477081"
"0000241572"	"0000487582"
"0000326647"	"0000710239"
"0000360048"	"0000759725"
"0000373916"	"0000784481"
"0000373957"	"0000784512"
"0000373959"	"0000784272"
"0000373976"	"0000784289"
"0000374601"	"0000785393"
"0000376621"	"0000788443"
"0000377514"	"0000789876"
"0000377514"	"0000789877"
"0000377959"	"0000790482"
"0000377964"	"0000790496"
"0000377989"	"0000790599"
"0000377995"	"0000790621"
"0000380566"	"0000793709"
"0000380567"	"0000793710"
"0000380568"	"0000793711"
"0000381579"	"0000795057"
"0000382851"	"0000796751"
"0000382856"	"0000796766"
"0000383174"	"0000797213"
"0000383506"	"0000797635"
"0000383821"	"0000798090"
"0000383821"	"0000798091"
"0000383822"	"0000798093"
"0000384422"	"0000811061"
"0000384466"	"0000811128"
"0000384466"	"0000811129"
"0000384467"	"0000811130"
"0000384468"	"0000811132"
"0000384887"	"0000811718"
"0000384987"	"0000811828"
"0000386015"	"0000813238"
"0000386058"	"0000813306"
"0000386059"	"0000813312"
"0000386065"	"0000813335"
"0000386408"	"0000813909"
"0000386413"	"0000813921"
"0000386414"	"0000813923"
"0000386480"	"0000814020"
"0000386488"	"0000814033"
"0000386515"	"0000814062"
"0000386582"	"0000814181"
"0000386583"	"0000814182"
"0000386583"	"0000814183"
"0000386615"	"0000814248"
"0000386786"	"0000814515"
"0000386788"	"0000814517"
"0000387401"	"0000815579"
"0000389552"	"0000818647"
"0000389553"	"0000818648"
"0000389554"	"0000818649"
"0000389776"	"0000819020"
"0000389776"	"0000819032"
"0000395718"	"0000827114"
"0000395725"	"0000827126"
"0000396275"	"0000827844"
"0000409702"	"0000846906"
"0000409703"	"0000846907"
"0000414305"	"0000871941"
"0000414306"	"0000871942"
"0000414307"	"0000871943"
"0000414308"	"0000871944"
"0000414308"	"0000871945"
"0000448560"	"0000958046"
"0000449022"	"0000959249"