### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM161A)
# 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}}"
"FAM161A"	"family with sequence similarity 161, member A"	"2"	"p15"	"unknown"	"NG_028125.1"	"UD_129112693165"	""	"https://www.LOVD.nl/FAM161A"	""	"1"	"25808"	"84140"	"613596"	"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/FAM161A_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-11-24 00:00:00"	"00006"	"2017-01-31 23:10:29"	"00006"	"2025-04-07 13:47:05"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00024224"	"FAM161A"	"transcript variant 1"	"003"	"NM_001201543.1"	""	"NP_001188472.1"	""	""	""	"-102"	"3758"	"2151"	"62081278"	"62051983"	"00006"	"2017-01-31 23:12:23"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02573"	"RP28"	"retinitis pigmentosa, type 28 (RP28)"	""	"606068"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-04-09 15:05:56"
"03946"	"RP82"	"retinitis pigmentosa, with/without situs inversus (RP82)"	"AR"	"615434"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-12-17 16:21:56"
"04211"	"RPar"	"retinitis pigmentosa, autosomal recessive (RPar)"	""	""	""	""	""	"00006"	"2015-02-27 18:58:57"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"FAM161A"	"02573"


## Individuals ## Do not remove or alter this header ##
## Count = 185
"{{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}}"
"00059751"	""	""	""	"1"	""	"00115"	"{PMID:Gu 1999:10507729}"	""	""	""	""	""	"0"	""	""	"Indian"	""
"00059752"	""	""	""	"1"	""	"00115"	""	""	"F"	""	""	""	"0"	""	""	"German"	""
"00059753"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059754"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059756"	""	""	""	"3"	""	"00115"	"{PMID:Sharon 2015:26261414}, {PMID:Bandah-Rozenfeld 2010:20705279}"	"1 familie, 3 patients, index case, also his affected brother carries the same mutations"	"M"	"yes"	"(Israel)"	""	"0"	""	""	"Syria;Jewish"	"MOL0276"
"00059757"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"M"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0786"
"00059760"	""	""	""	"2"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"1 familie, 2 patients, index case, also her affected sister carries the same mutations"	"F"	"yes"	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0139"
"00059761"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"F"	""	"(Israel)"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL0284"
"00059762"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"F"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0286"
"00059763"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"M"	""	"(Israel)"	""	"0"	""	""	"Libya;Jewish"	"MOL0352"
"00059764"	""	""	"00059765"	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"affected sister"	"F"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0526 PatII2"
"00059765"	""	""	""	"2"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"1 familie, 2 patients, also his affected sister carries the same mutations"	"M"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0526PatII1"
"00059766"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"F"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0570"
"00059767"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"F"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0672"
"00059768"	""	""	""	"2"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"family, 2 patients, index case, also his affected sister"	"M"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0696"
"00059769"	""	""	""	"2"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"family, 2 patients, index case, also his affected sister"	"M"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0740PatII1"
"00059770"	""	""	"00059769"	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"affected sister"	"F"	""	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0740PatII2"
"00059771"	""	""	"00059773"	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"M"	"yes"	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0766FamV2"
"00059772"	""	""	"00059773"	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"F"	"yes"	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0766PatV1"
"00059773"	""	""	""	"4"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"family, 4 patients, cousin of V:1 & 2"	"F"	"yes"	"(Israel)"	""	"0"	""	""	"Morocco;Jewish"	"MOL0766PatIV3"
"00059775"	""	""	""	"4"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"family, 4 affected"	"M"	""	"Israel"	""	"0"	""	""	"Morocco;Jewish"	"TB21PatVI3"
"00059776"	""	""	"00059775"	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"PatV2"	"M"	"yes"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	"TB21PatV2"
"00059777"	""	""	"00059775"	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"PatV2"	"F"	"yes"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	"TB21PatV2"
"00059778"	""	""	""	"2"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"family, 2 affected"	"M"	"yes"	"(Israel)"	""	"0"	""	""	"Arab Muslim"	"MOL0777"
"00059929"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"Turkish"	""
"00059930"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059931"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059932"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059933"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059934"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059935"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059936"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059937"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"German"	""
"00059938"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"?"	""
"00059939"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"?"	""
"00059940"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"?"	""
"00059941"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"?"	""
"00059942"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"?"	""
"00059943"	""	""	""	"1"	""	"00115"	""	""	""	""	""	""	"0"	""	""	"?"	""
"00059946"	""	""	""	"3"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}, {PMID:Kimchi 2018:29276052}"	"family, 3 affected"	"M"	""	"(Israel)"	""	"0"	""	""	"Jewish-Ashkenazi;Tunisia;Jewish"	"MOL0195"
"00059947"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"M"	""	"(Israel)"	""	"0"	""	""	"Bulgaria;Jewish"	"MOL0303"
"00059948"	""	""	""	"1"	""	"00115"	"{PMID:Bandah-Rozenfeld 2010:20705279}"	"1 familie, 3 patients"	"F"	""	"(Israel)"	""	"0"	""	""	"Libya;Morocco;Jewish"	"MOL0446"
"00100098"	""	""	""	"1"	""	"01769"	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"PKRD176;61176"
"00100112"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61239"
"00154483"	""	""	""	"2"	""	"01243"	"{PMID:Bandah-Rozenfeld 2010:20705279}, {PMID:Kimchi 2018:29276052}"	"family, 2 affected (F, M)"	"F;M"	""	"Morocco"	""	"0"	""	""	"Jewish"	"MOL0100PatII1/2"
"00155471"	""	""	""	"4"	""	"01243"	"{PMID:Bandah-Rozenfeld 2010:20705279}, {PMID:Sharon 2019:31456290}"	"1 family, 4 patient (affected)"	"F"	"no"	"Libya"	""	"0"	""	""	"Jewish"	"MOL0053"
"00155474"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish"	"MOL0878"
"00232294"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232295"	""	""	""	"12"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232296"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232297"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232298"	""	""	""	"8"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232299"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232300"	""	""	""	"157"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232301"	""	""	""	"424"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232302"	""	""	""	"9"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232303"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233639"	""	""	""	"8"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233640"	""	""	""	"55"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00302685"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00309166"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309167"	""	""	""	"18"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"18 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309168"	""	""	""	"66"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"66 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309169"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309726"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"CHRD4311"
"00309758"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"CHRD5160"
"00320432"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00328325"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"W000328"
"00328333"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"W000367"
"00331984"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat122"
"00332193"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB274"
"00332196"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB38"
"00332225"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB40"
"00333350"	""	""	""	"4"	""	"00000"	"{PMID:Villanueva 2018:28945494}"	"2-generation family, 4 affected (3F, M)"	"F;M"	""	""	""	"0"	""	""	""	"RD107"
"00333360"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat14"
"00333366"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat11"
"00333828"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"24"
"00333829"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"25"
"00333830"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"26"
"00333831"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"27"
"00333832"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"28"
"00333833"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"29"
"00333902"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"269"
"00333903"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"270"
"00333904"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"271"
"00334471"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2016:27874104}"	"family"	""	""	"Tunisia"	""	"0"	""	""	""	"F11"
"00334968"	""	""	""	"1"	""	"00000"	"{PMID:Jin 2017:28373534}"	""	""	""	"China"	""	"0"	""	""	""	"H45"
"00335114"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"5904"
"00335115"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"9376"
"00358973"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71583"
"00358977"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case25939"
"00359122"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13010307"
"00359147"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"11006153"
"00359171"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12002960"
"00362217"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2021:34795310}"	""	"M"	""	"Israel"	""	"0"	""	""	""	"Pat13"
"00363584"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG00352"
"00363653"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1421"
"00363660"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1804"
"00363869"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	"Morocco;Jewish"	"MOL0228"
"00372643"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP291"
"00372647"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP259"
"00372733"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP092"
"00373377"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373930"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-151-405"
"00376756"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"16"
"00376764"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"26"
"00376781"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"47"
"00376785"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"52"
"00379574"	""	""	""	"1"	""	"00000"	"{PMID:O\'Sullivan-2012:22581970}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00381883"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"33"
"00382307"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"136"
"00382308"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"137"
"00382317"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"146"
"00383649"	""	""	""	"1"	""	"00000"	"{PMID:Hu 2019:31236346}"	""	"M"	"no"	""	""	"0"	""	""	""	"EQT33_II-1"
"00383650"	""	""	""	"1"	""	"00000"	"{PMID:Hu 2019:31236346}"	""	"F"	"no"	""	""	"0"	""	""	""	"EQT33_II-2"
"00383963"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1058"
"00383970"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1161"
"00384050"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1921"
"00384054"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1960"
"00384066"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2082"
"00384084"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2165"
"00384129"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2489"
"00384623"	""	""	""	"1"	""	"00000"	"{PMID:Ehrenberg 2019:31814694}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	""	"Family 1 patient 1"
"00384625"	""	""	""	"1"	""	"00000"	"{PMID:Ehrenberg 2019:31814694}"	""	"F"	"no"	"Israel"	""	"0"	""	""	""	"Family 3 patient 1"
"00386271"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1943"
"00386705"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2831_004416"
"00387051"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"77"
"00387052"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"78"
"00388498"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"13009597"
"00388550"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.011"
"00388874"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 65, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"158"
"00389524"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 323, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"808"
"00389629"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 389, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"913"
"00389912"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 895, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1196"
"00389933"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 954, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1217"
"00389935"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 958, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1219"
"00389964"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1028, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1248"
"00390262"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000328"
"00390263"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000367"
"00390734"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F18, patient IV.1"	"M"	""	"Tunisia"	""	"0"	""	""	""	"F18_IV.1"
"00390735"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F18, patient IV.3"	"F"	""	"Tunisia"	""	"0"	""	""	""	"F18_IV.3"
"00392332"	""	""	""	"1"	""	"00000"	"{PMID:Xiao-2021:33598457}"	""	"F"	""	"China"	""	"0"	""	""	""	"191318"
"00393792"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00394598"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394599"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00395420"	""	""	""	"1"	""	"00000"	"{PMID:Shen 2021:34130719}"	""	"M"	"yes"	"China"	""	"0"	""	""	""	"F1‑III"
"00410186"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24520187}"	""	"M"	"yes"	""	""	"0"	""	""	"Palestinian"	"II:2"
"00410187"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24520187}"	""	"M"	"yes"	""	""	"0"	""	""	"Palestinian"	"II:3"
"00410188"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24520187}"	""	"F"	"yes"	""	""	"0"	""	""	"Palestinian"	"II:6"
"00410189"	""	""	""	"1"	""	"00000"	"{PMID:Venturini 2014:24651477}"	""	"F"	""	""	""	"0"	""	""	"Jewish (European)"	"003-161"
"00410190"	""	""	""	"1"	""	"00000"	"{PMID:Venturini 2014:24651477}"	""	"F"	""	""	""	"0"	""	""	"Jewish (Moroccan)"	"003-257"
"00410191"	""	""	""	"1"	""	"00000"	"{PMID:Venturini 2014:24651477}"	""	"F"	""	""	""	"0"	""	""	"Jewish (European)"	"012-001"
"00410192"	""	""	""	"1"	""	"00000"	"{PMID:Venturini 2014:24651477}"	""	"M"	""	""	""	"0"	""	""	"Caucasian"	"121-385"
"00410194"	""	""	""	"1"	""	"00000"	"{PMID:Duncan 2014:25007332}"	""	"F"	"likely"	"India"	""	"0"	""	""	"Nadar caste"	"III-1"
"00410195"	""	""	""	"1"	""	"00000"	"{PMID:Duncan 2014:25007332}"	""	"M"	"likely"	"India"	""	"0"	""	""	"Nadar caste"	"III-2"
"00410196"	""	""	""	"1"	""	"00000"	"{PMID:Duncan 2014:25007332}"	""	"M"	"likely"	"India"	""	"0"	""	""	"Nadar caste"	"III-3"
"00410197"	""	""	""	"1"	""	"00000"	"{PMID:Rose 2015:26113502}"	"family GC18398"	"F"	""	""	""	"0"	""	""	"British"	"GC18398"
"00410198"	""	""	""	"1"	""	"00000"	"{PMID:Rose 2015:26113502}"	"family GC19423"	"F"	"yes"	""	""	"0"	""	""	"British"	"GC19423-IV:1"
"00410199"	""	""	""	"1"	""	"00000"	"{PMID:Rose 2015:26113502}"	"family GC19423"	"F"	"yes"	""	""	"0"	""	""	"British"	"GC19423-IV:2"
"00410200"	""	""	""	"1"	""	"00000"	"{PMID:Rose 2015:26113502}"	"family GC3796"	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"GC3796-IV:1"
"00410201"	""	""	""	"1"	""	"00000"	"{PMID:Rose 2015:26113502}"	"family GC3796"	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"GC3796-IV:2"
"00410213"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2015:26246154}"	"family RP-252"	"F"	"yes"	""	""	"0"	""	""	"Indian"	"RP-252_IV:1"
"00410214"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2015:26246154}"	"family RP-182"	"M"	"yes"	""	""	"0"	""	""	"Indian"	"RP-182_IV:1"
"00410215"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2015:26246154}"	"sporadic"	"?"	""	""	""	"0"	""	""	"Indian"	"ARRP-S-I-46"
"00410232"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"P1"
"00410233"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"P2"
"00410234"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"P3"
"00410235"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	"sister of P5"	"F"	""	""	""	"0"	""	""	"Dutch"	"P4"
"00410236"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	"sister of P4"	"F"	""	""	""	"0"	""	""	"Dutch"	"P5"
"00410237"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"P6"
"00410238"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	""	"F"	""	""	""	"0"	""	""	"Belgian"	"P7"
"00410239"	""	""	""	"1"	""	"00000"	"{PMID:Van Schil 2015:26574802}"	""	"M"	""	""	""	"0"	""	""	"Belgian"	"P8"
"00426936"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 40, individual 48"	"M"	""	""	""	"0"	""	""	""	"40_48"
"00429525"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429687"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429758"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429765"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429846"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429908"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00447262"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1083"
"00447265"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1117"
"00447311"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1231"
"00447328"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1286"
"00447705"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1157"
"00447715"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1238"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 185
"{{individualid}}"	"{{diseaseid}}"
"00059751"	"04211"
"00059752"	"04211"
"00059753"	"04211"
"00059754"	"04211"
"00059756"	"04211"
"00059757"	"04211"
"00059760"	"04211"
"00059761"	"04211"
"00059762"	"04211"
"00059763"	"04211"
"00059764"	"04211"
"00059765"	"04211"
"00059766"	"04211"
"00059767"	"04211"
"00059768"	"04211"
"00059769"	"04211"
"00059770"	"04211"
"00059771"	"04211"
"00059772"	"04211"
"00059773"	"04211"
"00059775"	"04211"
"00059776"	"04211"
"00059777"	"04211"
"00059778"	"04211"
"00059929"	"04211"
"00059930"	"04211"
"00059931"	"04211"
"00059932"	"04211"
"00059933"	"04211"
"00059934"	"04211"
"00059935"	"04211"
"00059936"	"04211"
"00059937"	"04211"
"00059938"	"04211"
"00059939"	"04211"
"00059940"	"04211"
"00059941"	"04211"
"00059942"	"04211"
"00059943"	"04211"
"00059946"	"04211"
"00059947"	"04211"
"00059948"	"04211"
"00100098"	"04214"
"00100112"	"04214"
"00154483"	"03946"
"00155471"	"04214"
"00155474"	"04214"
"00232294"	"04214"
"00232295"	"04214"
"00232296"	"04214"
"00232297"	"04214"
"00232298"	"04214"
"00232299"	"04214"
"00232300"	"04214"
"00232301"	"04214"
"00232302"	"04214"
"00232303"	"04214"
"00233639"	"04214"
"00233640"	"04214"
"00302685"	"00198"
"00309166"	"04214"
"00309167"	"04214"
"00309168"	"04214"
"00309169"	"04214"
"00309726"	"04214"
"00309758"	"04214"
"00320432"	"00198"
"00328325"	"04214"
"00328333"	"04214"
"00331984"	"04214"
"00332193"	"04214"
"00332196"	"04214"
"00332225"	"04214"
"00333350"	"04214"
"00333360"	"04214"
"00333366"	"04214"
"00333828"	"04214"
"00333829"	"04214"
"00333830"	"04214"
"00333831"	"04214"
"00333832"	"04214"
"00333833"	"04214"
"00333902"	"04214"
"00333903"	"04214"
"00333904"	"04214"
"00334471"	"04214"
"00334968"	"00198"
"00335114"	"00198"
"00335115"	"00198"
"00358973"	"04214"
"00358977"	"04214"
"00359122"	"04214"
"00359147"	"04214"
"00359171"	"04214"
"00362217"	"04214"
"00363584"	"04214"
"00363653"	"04214"
"00363660"	"04214"
"00363869"	"04214"
"00372643"	"04214"
"00372647"	"04214"
"00372733"	"04214"
"00373377"	"04214"
"00373930"	"04214"
"00376756"	"04214"
"00376764"	"04214"
"00376781"	"04214"
"00376785"	"04214"
"00379574"	"04214"
"00381883"	"04214"
"00382307"	"04214"
"00382308"	"04214"
"00382317"	"04214"
"00383649"	"04214"
"00383650"	"04214"
"00383963"	"04214"
"00383970"	"04214"
"00384050"	"04214"
"00384054"	"04214"
"00384066"	"04214"
"00384084"	"04214"
"00384129"	"04214"
"00384623"	"00198"
"00384625"	"00198"
"00386271"	"04214"
"00386705"	"04214"
"00387051"	"04214"
"00387052"	"04214"
"00388498"	"04214"
"00388550"	"04214"
"00388874"	"04214"
"00389524"	"04214"
"00389629"	"04214"
"00389912"	"04214"
"00389933"	"04214"
"00389935"	"04214"
"00389964"	"04214"
"00390262"	"04214"
"00390263"	"04214"
"00390734"	"04214"
"00390735"	"04214"
"00392332"	"04214"
"00393792"	"04214"
"00394598"	"04214"
"00394599"	"04214"
"00395420"	"04214"
"00410186"	"04214"
"00410187"	"04214"
"00410188"	"04214"
"00410189"	"04214"
"00410190"	"04214"
"00410191"	"04214"
"00410192"	"04214"
"00410194"	"04214"
"00410195"	"04214"
"00410196"	"04214"
"00410197"	"04214"
"00410198"	"04214"
"00410199"	"04214"
"00410200"	"04214"
"00410201"	"04214"
"00410213"	"04214"
"00410214"	"04214"
"00410215"	"04214"
"00410232"	"04214"
"00410233"	"04214"
"00410234"	"04214"
"00410235"	"04214"
"00410236"	"04214"
"00410237"	"04214"
"00410238"	"04214"
"00410239"	"04214"
"00426936"	"04214"
"00429525"	"00112"
"00429687"	"00112"
"00429758"	"00112"
"00429765"	"00112"
"00429846"	"00112"
"00429908"	"00112"
"00447262"	"00198"
"00447265"	"00198"
"00447311"	"00198"
"00447328"	"00198"
"00447705"	"00198"
"00447715"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 02573, 03946, 04211, 04214
## Count = 171
"{{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}}"
"0000046243"	"04211"	"00059751"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046244"	"04211"	"00059752"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046245"	"04211"	"00059753"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046246"	"04211"	"00059754"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046248"	"04211"	"00059756"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046249"	"04211"	"00059757"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046252"	"04211"	"00059760"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046253"	"04211"	"00059761"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046254"	"04211"	"00059762"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046255"	"04211"	"00059763"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046256"	"04211"	"00059764"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046257"	"04211"	"00059765"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046258"	"04211"	"00059766"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046259"	"04211"	"00059767"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046260"	"04211"	"00059768"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046261"	"04211"	"00059769"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046262"	"04211"	"00059770"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046263"	"04211"	"00059771"	"00115"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046264"	"04211"	"00059772"	"00115"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046265"	"04211"	"00059773"	"00115"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046267"	"04211"	"00059775"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046268"	"04211"	"00059776"	"00115"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046269"	"04211"	"00059777"	"00115"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046270"	"04211"	"00059778"	"00115"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046421"	"04211"	"00059929"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046422"	"04211"	"00059930"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046423"	"04211"	"00059931"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046424"	"04211"	"00059932"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046425"	"04211"	"00059933"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046426"	"04211"	"00059934"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046427"	"04211"	"00059935"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046428"	"04211"	"00059936"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046429"	"04211"	"00059937"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046430"	"04211"	"00059938"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046431"	"04211"	"00059939"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046432"	"04211"	"00059940"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046433"	"04211"	"00059941"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046434"	"04211"	"00059942"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046435"	"04211"	"00059943"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046436"	"04211"	"00059946"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046437"	"04211"	"00059947"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000046438"	"04211"	"00059948"	"00115"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000078349"	"04214"	"00100112"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127224"	"03946"	"00154483"	"01243"	"Familial, autosomal recessive"	""	"..."	""	""	""	""	""	""	""	""	""	""	""
"0000127971"	"04214"	"00155471"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127974"	"04214"	"00155474"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000229769"	"00198"	"00302685"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510); Type II diabetes mellitus (HP:0005978)"	""	""	""	""	""	""	""	""	""	""	""
"0000234486"	"04214"	"00309166"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234487"	"04214"	"00309167"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234488"	"04214"	"00309168"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234489"	"04214"	"00309169"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235039"	"04214"	"00309726"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235067"	"04214"	"00309758"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000242408"	"00198"	"00320432"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510); Cone/cone-rod dystrophy (HP:0000548)"	""	""	""	""	""	""	""	""	""	""	""
"0000246552"	"04214"	"00328325"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246560"	"04214"	"00328333"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250175"	"04214"	"00331984"	"00000"	"Familial, autosomal dominant"	"54y"	"reduced visual acuity; EOG borderline; scotopic ERG normalreduced; photopic ERG borderline"	"50y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250380"	"04214"	"00332193"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250383"	"04214"	"00332196"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250412"	"04214"	"00332225"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiplex retinitis pigmentosa"	""
"0000251536"	"04214"	"00333350"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal degeneration"	""
"0000251547"	"04214"	"00333360"	"00000"	"Familial, autosomal dominant"	"54y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251553"	"04214"	"00333366"	"00000"	"Unknown"	"20y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252013"	"04214"	"00333828"	"00000"	"Familial, autosomal recessive"	"67y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252014"	"04214"	"00333829"	"00000"	"Familial, autosomal recessive"	"37y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252015"	"04214"	"00333830"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252016"	"04214"	"00333831"	"00000"	"Familial, autosomal recessive"	"70y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252017"	"04214"	"00333832"	"00000"	"Familial, autosomal recessive"	"26y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252018"	"04214"	"00333833"	"00000"	"Familial, autosomal recessive"	"20y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252087"	"04214"	"00333902"	"00000"	"Familial, autosomal recessive"	"29y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252088"	"04214"	"00333903"	"00000"	"Familial, autosomal recessive"	"32y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252089"	"04214"	"00333904"	"00000"	"Familial, autosomal recessive"	"42y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252560"	"04214"	"00334471"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252715"	"00198"	"00334968"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"high myopia, early-onset"	""
"0000252829"	"00198"	"00335114"	"00000"	"Unknown"	""	"26y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000252830"	"00198"	"00335115"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254271"	"04214"	"00358973"	"00000"	"Familial"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000254275"	"04214"	"00358977"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254419"	"04214"	"00359122"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254444"	"04214"	"00359147"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254468"	"04214"	"00359171"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000257631"	"04214"	"00362217"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258934"	"04214"	"00363584"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259003"	"04214"	"00363653"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259010"	"04214"	"00363660"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259208"	"04214"	"00363869"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267922"	"04214"	"00372643"	"00000"	"Familial, autosomal dominant"	"18y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267926"	"04214"	"00372647"	"00000"	"Familial, autosomal dominant"	"18y"	"see paper; ..."	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268012"	"04214"	"00372733"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268653"	"04214"	"00373377"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269139"	"04214"	"00373930"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271967"	"04214"	"00376756"	"00000"	"Familial, autosomal recessive"	"31y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271975"	"04214"	"00376764"	"00000"	"Familial, autosomal recessive"	"9y"	""	""	""	""	""	""	""	""	""	""	"Usher syndrome type II"	""
"0000271992"	"04214"	"00376781"	"00000"	"Familial, autosomal dominant"	"6y"	""	""	""	""	""	""	""	""	""	""	"Juvenile retinitis pigmentosa/LCA, nonrecordable electoretinogram, retinopathy"	""
"0000271996"	"04214"	"00376785"	"00000"	"Familial, X-linked"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000275725"	"04214"	"00381883"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276156"	"04214"	"00382307"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Generalized retinal dystrophy (non-syndromic)"	""
"0000276157"	"04214"	"00382308"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276166"	"04214"	"00382317"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277434"	"04214"	"00383649"	"00000"	"Familial, autosomal recessive"	"20y"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277435"	"04214"	"00383650"	"00000"	"Familial, autosomal recessive"	"19y"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277748"	"04214"	"00383963"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277755"	"04214"	"00383970"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277835"	"04214"	"00384050"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277839"	"04214"	"00384054"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277851"	"04214"	"00384066"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277869"	"04214"	"00384084"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277914"	"04214"	"00384129"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278413"	"00198"	"00384623"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa (AR) and hearing loss (AR)"	""	""	""	""	""	""	""	""	"Mixed"	"Usher syndrome"	""
"0000278415"	"00198"	"00384625"	"00000"	"Unknown"	""	"Familial Mediterranean Fever (AR) and Retinitis pigmentosa (?)"	""	""	""	""	""	""	""	""	"Mixed"	"Familial mediterranean fever and retinitis pigmentosa"	""
"0000280074"	"04214"	"00386271"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280505"	"04214"	"00386705"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280829"	"04214"	"00387051"	"00000"	"Familial, autosomal recessive"	"24y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280830"	"04214"	"00387052"	"00000"	"Familial, autosomal recessive"	"49y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000282050"	"04214"	"00388498"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000282090"	"04214"	"00388550"	"00000"	"Isolated (sporadic)"	""	"Non‐syndrom"	""	"44y"	""	""	""	""	""	""	"Retinitis pigmentosa type 28"	"Retinitis pigmentosa"	""
"0000282415"	"04214"	"00388874"	"00000"	"Isolated (sporadic)"	"68y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283065"	"04214"	"00389524"	"00000"	"Isolated (sporadic)"	"81y"	"age at genetic diagnosis mentioned"	""	"73y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283170"	"04214"	"00389629"	"00000"	"Isolated (sporadic)"	"80y"	"age at genetic diagnosis mentioned"	""	"75y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283453"	"04214"	"00389912"	"00000"	"Isolated (sporadic)"	"31y"	"age at genetic diagnosis mentioned"	""	"27y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283474"	"04214"	"00389933"	"00000"	"Isolated (sporadic)"	"63y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283476"	"04214"	"00389935"	"00000"	"Isolated (sporadic)"	"37y"	"age at genetic diagnosis mentioned"	""	"34y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283505"	"04214"	"00389964"	"00000"	"Isolated (sporadic)"	"57y"	"age at genetic diagnosis mentioned"	""	"55y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283800"	"04214"	"00390262"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283801"	"04214"	"00390263"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284222"	"04214"	"00390734"	"00000"	"Familial, autosomal recessive"	"33y"	"Visual acuity right eye/left eye: 1/20_1/20, rare bone spicule shaped pigment deposits, large areas of retinal atrophy around vessels, macular atrophy, macular atrophy"	"11y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000284223"	"04214"	"00390735"	"00000"	"Familial, autosomal recessive"	"28y"	"Visual acuity right eye/left eye: 10/10_10/10, rare bone spicule shaped pigment deposits in mid periphery, normal macula"	"18y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000285608"	"04214"	"00392332"	"00000"	"Familial, X-linked"	"27y"	"best corrected visual acuity right/left eye: 0.1/0.3, electroretinograhy responses: extinguished"	"<5y"	""	""	""	""	""	""	""	"Retinitis pigmentosa, X-linked"	"Retinitis pigmentosa, autosomal dominant"	""
"0000286998"	"04214"	"00393792"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287801"	"04214"	"00394598"	"00000"	"Familial, autosomal recessive"	"64y"	""	"51y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287802"	"04214"	"00394599"	"00000"	"Familial, autosomal recessive"	"75y"	""	"44y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000288619"	"04214"	"00395420"	"00000"	"Familial, autosomal recessive"	"46y"	"Night blindness, best corrected visual acuity 0.4/0.6"	"39y"	""	""	""	""	""	""	""	"retinitis pigmentosa with high myopia"	""	""
"0000302290"	"04214"	"00410186"	"00000"	"Familial, autosomal recessive"	"40y"	"photophobia and decreased peripheral vision, visual function moderately worsened over the next years; 40y: visual acuity: counting fingers, color discrimination: not possible; visual field: severe constriction disabling the patient`s self-orientation; history of high myopia with radial keratotomy performed in both eyes at the age of 20 years; current glass correction: -9.0 Dpt sphere both eyes, not improving his visual function; pupillary responses and intraocular pressure: normal; anterior segment: numerous radial keratotomy scars on both eyes, with the central cornea appearing clear; no inflammation in the anterior segments, mild cataract on the right eye; funduscopy: slight optic disc pallor, narrowed retinal vessels, atrophic appearing maculae both eyes; mid-periphery, widespread bone-spicule like pigmentary changes"	"20y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302291"	"04214"	"00410187"	"00000"	"Familial, autosomal recessive"	"37y"	""	"27y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302292"	"04214"	"00410188"	"00000"	"Familial, autosomal recessive"	"21y"	"asymptomatic; only problems with night vision noticed recently"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302293"	"04214"	"00410189"	"00000"	"Familial, autosomal recessive"	"27y"	"12y (first visit): best corrected Snellen visual acuity right, left eye: 20/40, 20/30; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.1 / 0.1; visual field right, left eye: Goldmann total field area to V-4e white test light: 1174 / 2016; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 3; lens right / left eye: normal / normal; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants; 27y (last visit): best corrected Snellen visual acuity right, left eye: 20/30, 20/25; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.17 / 0.24; visual field right, left eye: Goldmann total field area to V-4e white test light: 123 / 118; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: not available; lens right / left eye: normal / normal; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302294"	"04214"	"00410190"	"00000"	"Familial, autosomal recessive"	"38y"	"21y (first visit): best corrected Snellen visual acuity right, left eye: 20/50, 20/40; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.1 / 0.1; visual field right, left eye: Goldmann total field area to V-4e white test light: 108 / 76; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 3; lens right / left eye: normal / central posterior subcapsular cataract; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants; 38y (last visit): best corrected Snellen visual acuity right, left eye: hand motions, 20/60; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.06 / 0.1; visual field right, left eye: Goldmann total field area to V-4e white test light: not available / not available; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 4; lens right / left eye: central posterior subcapsular cataract / central posterior subcapsular cataract; macula right / left eye: atrophic scar / granular; periphery: bone spicule or clumped pigment in one or more quadrants"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302295"	"04214"	"00410191"	"00000"	"Familial, autosomal recessive"	"30y"	"12y (first visit): best corrected Snellen visual acuity right, left eye: 20/40, 20/40; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.1 / 0.1; visual field right, left eye: Goldmann total field area to V-4e white test light: 78 / 78; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 3; lens right / left eye: central posterior subcapsular cataract / central posterior subcapsular cataract; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants; 30y (last visit): best corrected Snellen visual acuity right, left eye: 20/30, 20/30; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): not available / not available; visual field right, left eye: Goldmann total field area to V-4e white test light: 43 / 73; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: not available; lens right / left eye: central posterior subcapsular cataract / central posterior subcapsular cataract; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302296"	"04214"	"00410192"	"00000"	"Familial, autosomal recessive"	"43y"	"23y (first visit): best corrected Snellen visual acuity right, left eye: 20/20, 20/20; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.24 / 0.6; visual field right, left eye: Goldmann total field area to V-4e white test light: 2060 / 1795; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 3; lens right / left eye: central posterior subcapsular cataract / central posterior subcapsular cataract; macula right / left eye: normal / normal; periphery: bone spicule or clumped pigment in one or more quadrants; 43y (last visit): best corrected Snellen visual acuity right, left eye: 20/20, 20/30; electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts): 0.22 / 0.32; visual field right, left eye: Goldmann total field area to V-4e white test light: 69 / 65; dark adaptation: final threshold in log units above normal after 45 minutes of adaptation: 4; lens right / left eye: pseudophakia / pseudophakia; macula right / left eye: granular / granular; periphery: bone spicule or clumped pigment in one or more quadrants"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302298"	"04214"	"00410194"	"00000"	"Familial, autosomal recessive"	"47y"	"best corrected visual acuity right, left eye: 20/40-1, 20/60-2; refraction right, left eye: -2.00 + 3.25 x 094, -2.00 + 3.25 x  083; Goldmann visual field at diagnosis: central 10deg island with inferotemporal crescent both eyes (IV4e); full field electroretinography: not measurable to all stimuli both eyes"	"19y"	"24y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302299"	"04214"	"00410195"	"00000"	"Familial, autosomal recessive"	"44y"	"best corrected visual acuity right, left eye: 20/25-1, 20/32-1; refraction right, left eye: -3.50 + 1.75 x 110, -3.75 + 1.75 x 060; Goldmann visual field at diagnosis: central 15deg island with inferotemporal crescent both eyes; full field electroretinography: not measurable to all stimuli both eyes"	"19y"	"27y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302300"	"04214"	"00410196"	"00000"	"Familial, autosomal recessive"	"43y"	"best corrected visual acuity right, left eye: 20/25 + 2, 20/25 + 1; refraction right, left eye: -8.75 + 3.50 x 105, -8.75 + 3.25 x 075 ; Goldmann visual field at diagnosis: full both eyes; midperipheral scotoma temporally to I4e both eyes; full field electroretinography: cone greater than rod dysfunction both eyes"	"42y"	"29y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302301"	"04214"	"00410197"	"00000"	"Familial, autosomal recessive"	""	"fundoscopy: peripheral changes in the right and left eye, with minimal bone spicule pigmentation in the inferonasal and superotemporal aspects of the retina; fundus autofluorescence: extensive loss of autofluorescence in the peripheral retina and a parafoveal ring of high density in both eyes"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302302"	"04214"	"00410198"	"00000"	"Familial, autosomal recessive"	""	"fundoscopy: slight pigmentation in the peripheral retina that was most prominent in the superonasal aspect; fundus autofluorescence: loss of autofluorescence in the peripheral retina and a parafoveal ring of high density both eyes; optical coherence tomography: preserved retinal layers in the foveola only"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302303"	"04214"	"00410199"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302304"	"04214"	"00410200"	"00000"	"Familial, autosomal recessive"	""	"fundoscopy: pigmentation in the peripheral retina, including nummular deposits, most prominent in the temporal and inferior aspects, pallor of the optic disc, and attenuation of the retinal vessels;  fundus autofluorescence: a loss of autofluorescence in the peripheral retina; optical coherence tomography: some preservation of fovealbarchitecure both eyes, a few areas with macular oedema in the right eye"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302305"	"04214"	"00410201"	"00000"	"Familial, autosomal recessive"	""	"fundoscopy: extensive peripheral pigment deposition, pallor of the optic disc, and attenuation of the retinal vessels"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302317"	"04214"	"00410213"	"00000"	"Familial, autosomal recessive"	"37y"	"best corrected visual acuity right, left eye: 13/20, 3/400; complaints: defective vision in the left eye of 4 years; history: night blindness since 5 years; left eye- exotropia 15deg; best-corrected visual acuity : right eye - 6/9 (with - 5 d) ; left eye -0.5 /60 ( -10 / -1.5 /180 ); ocular examination: both eyes anterior segment was within normal limits; fundus: both eyes pale optic disc, vessels attenuated and bony corpuscle pigments with primary open angle glaucoma both eyes; cup/disc ratio right/left eye:-0.65 / 0.85; central fields - tubular field in right eye less than 50deg; left eye - not able to fixate; electroretinogram: extinguis"	"29y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302318"	"04214"	"00410214"	"00000"	"Familial, autosomal recessive"	"16y"	"best corrected visual acuity right, left eye: 7/20, 7/20; history: affected sister;  has same problem; best-corrected visual acuity right, left eye: 6/18 -3.0 dsph ,-6/18 -5.0 dsph; ocular examination: anterior segment both eyes: normal; fundus: both eyes- disc pallor, vessels attenuated, diffuse bony corpuscle pigments; central fields- both eyes - tubular field < 150deg"	"0m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302319"	"04214"	"00410215"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302336"	"04214"	"00410232"	"00000"	"Familial, autosomal recessive"	"43y"	"history: night blindness and visual field loss noted in third decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.12 (0.9), 0.3 (0.5); amblyopia; refraction right/left eye: -6.25 to 2.50 x 25 deg, -3.00 to 3.00 x 180deg; lens: posterior subcapsular cataract; ophthalmoscopy: moderate pallor optic discs; severely attenuated vessels; mild bull\'s eye-like lesions; retinal pigment epithelium atrophy periphery with intraretinal bone-spicule pigmentations; Goldmann perimetry: constricted up to 5deg with small temporal island both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the midperip"	"29y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302337"	"04214"	"00410233"	"00000"	"Familial, autosomal recessive"	"65y"	"history: night blindness since age 15y; fast decrease of va since age 20y; visual field loss since age 30 y; best corrected visual acuity right, left eye Snellen (logMAR): LP (2.7), LP (2.7); refraction right/left eye: -6.00 to 1.50 x 53deg, 5.5 to 2.00 x 125deg; lens: posterior subcapsular cataract (visually disturbing); ophthalmoscopy: pale-white optic discs and severely attenuated vessels; preserved narrow ring (right eye) or doughnut shaped area (left eye) of retina surrounding the atrophic macula; very severe chorioretinal atrophy with intraretinal bone-spicule pigmentations in periphery; Goldmann perimetry: constricted up to 5deg (right eye) and 10deg (left eye) at age 31y; optical coherence tomography: severely atrophic retina with a relatively preserved retina with a retinal pigment epithelium/choroid band in the area corresponding with the ring that surrounds the macula; fundus autofluorescence: diffuse scleral reflectance with a hypo-autofluorescent ring around the macula"	"11y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302338"	"04214"	"00410234"	"00000"	"Familial, autosomal recessive"	"67y"	"history: night blindness and visual field loss since age 25y; subsequent loss of visual acuity; best corrected visual acuity right, left eye Snellen (logMAR): LP (2.7), LP (2.7); refraction right/left eye: -2.5 -2.5; lens: posterior subcapsular cataract; ophthalmoscopy: pale-white optic disc; severely attenuated vessels; preserved doughnut-shaped area of macula around atrophic fovea; periphery with intraretinal bone spicule pigmentations; Goldmann perimetry: not performed; optical coherence tomography: not performed; fundus autofluorescence: not performed"	"25y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302339"	"04214"	"00410235"	"00000"	"Familial, autosomal recessive"	"57y"	"history: night blindness and visual field loss noted in third decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.7 (0.16), 0.6 (0.2); refraction right/left eye: -plano-2.00 x 99deg, -0.75 to 0.75 x 105deg; lens: posterior subcapsular cataract(visually disturbing); ophthalmoscopy: mild pallor optic discs; severely attenuated vessels; mild retinal pigment epithelium changes perifoveally; round lesions with retinal pigment epithelium atrophy periphery with bone-spicule pigmentations; Goldmann perimetry: constricted up to 10deg right eye and 5-10deg left eye (at age 53y); optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the midperiphe"	"41y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302340"	"04214"	"00410236"	"00000"	"Familial, autosomal recessive"	"52y"	"history: night blindness and visual field loss noted in second decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.05 (1.3) ; amblyopia, 0.5 (0.3); refraction right/left eye: -0.75 to 2.25 x 86deg, -2.00; lens: posterior subcapsular cataract (visually disturbing); ophthalmoscopy: mild pallor optic discs; severely attenuated vessels; mild bull\'s eye-like lesions; epiretinal changes along vascular arcade; round lesions with retinal pigment epithelium atrophy periphery with bone-spicule pigmentations; Goldmann perimetry: constricted up to 5-10deg both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the posterior pole and midperip"	"31y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302341"	"04214"	"00410237"	"00000"	"Familial, autosomal recessive"	"25y"	"history: night blindness and visual field loss noted in second decade; best corrected visual acuity right, left eye Snellen (logMAR): 0.9 (0.04), 0.9 (0.04); refraction left eye: -0.75 to 0.75 x 105deg; lens: posterior subcapsular cataract (mild); ophthalmoscopy: mild pallor optic discs; severely attenuated vessels; mild bull\'s eye-like lesions, wrinkling inner limiting membrane; retinal pigment epithelium atrophy periphery with bone spicule pigmentations; Goldmann perimetry: constricted up to 15-20deg both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in the macular region; fundus autofluorescence: hyper-autofluorescent ring around the fovea, with hypo-autofluorescent spots in the midperip"	"19y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302342"	"04214"	"00410238"	"00000"	"Familial, autosomal recessive"	"43y"	"history: night blindness since age 7y; visual field loss since age 23y; marked loss of va since age 40 y; best corrected visual acuity right, left eye Snellen (logMAR): LP (2.7), LP (2.7); refraction right/left eye: -2.50 to 3.00 x 45deg, -2.25 to 2.50 x 145deg; lens: posterior subcapsular cataract; ophthalmoscopy: waxy optic discs with temporal pallor; severely attenuated retinal vessels; retinal pigment epithelium atrophy more pronounced in confluent round flecks around vascular arcades and inferiorly; periphery mixed nummular and bone-spicule pigmentations; Goldmann perimetry: central perception of object V4e in right eye; nonrecordable in left eye; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors immediately inferior to atrophic fovea (right eye > left eye); fundus autofluorescence: marked hypo-autofluorescence of area around optic disc & vascular arcades, with nummular patches of hypo-autofluorescence in midperiphery"	"32y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302343"	"04214"	"00410239"	"00000"	"Familial, autosomal recessive"	"62y"	"history: night blindness since age 6y; visual field loss since age 10y; marked loss of va since age 38y; best corrected visual acuity right, left eye Snellen (logMAR): 0.05 (1.3), LP (2.7); refraction right/left eye: -4.00 to 2.00 x 180deg, -4.00; lens: pseudophakia; ophthalmoscopy: waxy optic discs with temporal pallor; severely attenuated retinal vessels; preserved doughnut-shaped area of macula around atrophic fovea; retinal pigment epithelium atrophy more pronounced around vascular arcades periphery with mixed nummular and bone-spicule pigmentations; Goldmann perimetry: nonrecordable both eyes; optical coherence tomography: preserved retinal pigment epithelium and photoreceptors in doughnut-shaped concentric circle around atrophic fovea (right eye > left eye); fundus autofluorescence: marked hypo-autofluorescence of area around optic disc & vascular arcades, with hyperautofluorescent ring around fovea"	"25y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000318074"	"04214"	"00426936"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000320397"	"00112"	"00429525"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320559"	"00112"	"00429687"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320630"	"00112"	"00429758"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320637"	"00112"	"00429765"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320718"	"00112"	"00429846"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320780"	"00112"	"00429908"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336461"	"00198"	"00447262"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336464"	"00198"	"00447265"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336510"	"00198"	"00447311"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336527"	"00198"	"00447328"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336904"	"00198"	"00447705"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336914"	"00198"	"00447715"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""


## Screenings ## Do not remove or alter this header ##
## Count = 185
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000059738"	"00059751"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059739"	"00059752"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059740"	"00059753"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059741"	"00059754"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059743"	"00059756"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059744"	"00059757"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059747"	"00059760"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059748"	"00059761"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059749"	"00059762"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059750"	"00059763"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059751"	"00059764"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059752"	"00059765"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059753"	"00059766"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059754"	"00059767"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059755"	"00059768"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059756"	"00059769"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059757"	"00059770"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059758"	"00059771"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059759"	"00059772"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059760"	"00059773"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059762"	"00059775"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059763"	"00059776"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059764"	"00059777"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059765"	"00059778"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059916"	"00059929"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059917"	"00059930"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059918"	"00059931"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059919"	"00059932"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059920"	"00059933"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059921"	"00059934"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059922"	"00059935"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059923"	"00059936"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059924"	"00059937"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059925"	"00059938"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059926"	"00059939"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059927"	"00059940"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059928"	"00059941"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059929"	"00059942"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059930"	"00059943"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059933"	"00059946"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059934"	"00059947"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000059935"	"00059948"	"1"	"00115"	"00115"	"2010-12-01 16:21:22"	""	""	"SEQ"	"DNA"	""	""
"0000100502"	"00100098"	"1"	"01769"	"01769"	"2017-01-30 18:48:35"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100516"	"00100112"	"1"	"01769"	"01769"	"2017-01-30 20:41:45"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000155343"	"00154483"	"1"	"01243"	"01243"	"2018-02-25 09:37:52"	""	""	"PCR"	"DNA"	""	""
"0000156336"	"00155471"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156339"	"00155474"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000233393"	"00232294"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233394"	"00232295"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233395"	"00232296"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233396"	"00232297"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233397"	"00232298"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233398"	"00232299"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233399"	"00232300"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233400"	"00232301"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233401"	"00232302"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233402"	"00232303"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234738"	"00233639"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234739"	"00233640"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000303811"	"00302685"	"1"	"01807"	"01807"	"2020-05-29 15:09:01"	""	""	"SEQ"	"DNA"	""	""
"0000310311"	"00309166"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310312"	"00309167"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310313"	"00309168"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310314"	"00309169"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310871"	"00309726"	"1"	"00006"	"00006"	"2020-09-01 22:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310903"	"00309758"	"1"	"00006"	"00006"	"2020-09-02 11:59:29"	""	""	"SEQ"	"DNA"	""	""
"0000321619"	"00320432"	"1"	"01807"	"01807"	"2020-11-30 09:27:01"	""	""	"SEQ"	"DNA"	""	""
"0000329540"	"00328325"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329548"	"00328333"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000333203"	"00331984"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333413"	"00332193"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333416"	"00332196"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333445"	"00332225"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000334575"	"00333350"	"1"	"00000"	"00006"	"2021-02-24 19:32:43"	""	""	"SEQ-NG"	"DNA"	""	"233-gene panel"
"0000334585"	"00333360"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334591"	"00333366"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000335054"	"00333828"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335055"	"00333829"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335056"	"00333830"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335057"	"00333831"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335058"	"00333832"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335059"	"00333833"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335128"	"00333902"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335129"	"00333903"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335130"	"00333904"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335700"	"00334471"	"1"	"00000"	"00006"	"2021-02-28 17:46:08"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336199"	"00334968"	"1"	"00000"	"00006"	"2021-03-02 16:14:24"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336343"	"00335114"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336344"	"00335115"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360210"	"00358973"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360214"	"00358977"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360360"	"00359122"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360385"	"00359147"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360409"	"00359171"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363446"	"00362217"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364812"	"00363584"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364881"	"00363653"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364888"	"00363660"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000365097"	"00363869"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000373875"	"00372643"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373879"	"00372647"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373965"	"00372733"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374612"	"00373377"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000375162"	"00373930"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000377962"	"00376756"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377970"	"00376764"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377987"	"00376781"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377991"	"00376785"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000380773"	"00379574"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383099"	"00381883"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383521"	"00382307"	"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"
"0000383522"	"00382308"	"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"
"0000383531"	"00382317"	"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"
"0000384874"	"00383649"	"1"	"00000"	"03840"	"2021-09-29 12:16:56"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"Whole exome sequencing"
"0000384875"	"00383650"	"1"	"00000"	"03840"	"2021-09-29 12:16:56"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"Whole exome sequencing"
"0000385188"	"00383963"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385195"	"00383970"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385275"	"00384050"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385279"	"00384054"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385291"	"00384066"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385309"	"00384084"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385354"	"00384129"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385851"	"00384623"	"1"	"00000"	"03840"	"2021-10-04 12:47:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000385853"	"00384625"	"1"	"00000"	"03840"	"2021-10-04 12:47:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000387500"	"00386271"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387933"	"00386705"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388277"	"00387051"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388278"	"00387052"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389792"	"00388550"	"1"	"00000"	"03840"	"2021-11-04 19:02:37"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood;saliva"	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000390117"	"00388874"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390767"	"00389524"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390872"	"00389629"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000391155"	"00389912"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391176"	"00389933"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391178"	"00389935"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391207"	"00389964"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391503"	"00390262"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391504"	"00390263"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391975"	"00390734"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000391976"	"00390735"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000393574"	"00392332"	"1"	"00000"	"03840"	"2021-11-22 16:18:49"	""	""	"SEQ-NG;PCRq"	"DNA"	"blood"	"gene panel testing and qualitative PCR"
"0000395040"	"00393792"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395845"	"00394598"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395846"	"00394599"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000396658"	"00395420"	"1"	"00000"	"03840"	"2021-12-06 14:47:57"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000397443"	"00388498"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000411449"	"00410186"	"1"	"00000"	"03840"	"2022-05-19 20:27:47"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000411450"	"00410187"	"1"	"00000"	"03840"	"2022-05-19 20:27:47"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000411451"	"00410188"	"1"	"00000"	"03840"	"2022-05-19 20:27:47"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000411452"	"00410189"	"1"	"00000"	"03840"	"2022-05-20 12:01:22"	""	""	"SEQ"	"DNA"	""	""
"0000411453"	"00410190"	"1"	"00000"	"03840"	"2022-05-20 12:01:22"	""	""	"SEQ"	"DNA"	""	""
"0000411454"	"00410191"	"1"	"00000"	"03840"	"2022-05-20 12:01:22"	""	""	"SEQ"	"DNA"	""	""
"0000411455"	"00410192"	"1"	"00000"	"03840"	"2022-05-20 12:01:22"	""	""	"SEQ"	"DNA"	""	""
"0000411457"	"00410194"	"1"	"00000"	"03840"	"2022-05-20 13:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000411458"	"00410195"	"1"	"00000"	"03840"	"2022-05-20 13:34:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000411459"	"00410196"	"1"	"00000"	"03840"	"2022-05-20 13:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000411460"	"00410197"	"1"	"00000"	"03840"	"2022-05-20 14:17:32"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"homozygosity mapping, high-throughput sequencing"
"0000411461"	"00410198"	"1"	"00000"	"03840"	"2022-05-20 14:17:32"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"homozygosity mapping, high-throughput sequencing"
"0000411462"	"00410199"	"1"	"00000"	"03840"	"2022-05-20 14:17:32"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"homozygosity mapping, high-throughput sequencing"
"0000411463"	"00410200"	"1"	"00000"	"03840"	"2022-05-20 14:17:32"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"homozygosity mapping, high-throughput sequencing"
"0000411464"	"00410201"	"1"	"00000"	"03840"	"2022-05-20 14:17:32"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"homozygosity mapping, high-throughput sequencing"
"0000411476"	"00410213"	"1"	"00000"	"03840"	"2022-05-20 15:08:30"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000411477"	"00410214"	"1"	"00000"	"03840"	"2022-05-20 15:08:30"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000411478"	"00410215"	"1"	"00000"	"03840"	"2022-05-20 15:08:30"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000411495"	"00410232"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411496"	"00410233"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411497"	"00410234"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411498"	"00410235"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411499"	"00410236"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411500"	"00410237"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411501"	"00410238"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000411502"	"00410239"	"1"	"00000"	"03840"	"2022-05-20 15:46:36"	""	""	"arraySNP;ARMS;SEQ"	"DNA"	""	""
"0000428256"	"00426936"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000430938"	"00429525"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431100"	"00429687"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431171"	"00429758"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431178"	"00429765"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431259"	"00429846"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431321"	"00429908"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448839"	"00447262"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448842"	"00447265"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448888"	"00447311"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448905"	"00447328"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449282"	"00447705"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449292"	"00447715"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 158
"{{screeningid}}"	"{{geneid}}"
"0000059738"	"FAM161A"
"0000059739"	"FAM161A"
"0000059740"	"FAM161A"
"0000059741"	"FAM161A"
"0000059743"	"FAM161A"
"0000059744"	"FAM161A"
"0000059747"	"FAM161A"
"0000059748"	"FAM161A"
"0000059749"	"FAM161A"
"0000059750"	"FAM161A"
"0000059751"	"FAM161A"
"0000059752"	"FAM161A"
"0000059753"	"FAM161A"
"0000059754"	"FAM161A"
"0000059755"	"FAM161A"
"0000059756"	"FAM161A"
"0000059757"	"FAM161A"
"0000059758"	"FAM161A"
"0000059759"	"FAM161A"
"0000059760"	"FAM161A"
"0000059762"	"FAM161A"
"0000059763"	"FAM161A"
"0000059764"	"FAM161A"
"0000059765"	"FAM161A"
"0000059916"	"FAM161A"
"0000059917"	"FAM161A"
"0000059918"	"FAM161A"
"0000059919"	"FAM161A"
"0000059920"	"FAM161A"
"0000059921"	"FAM161A"
"0000059922"	"FAM161A"
"0000059923"	"FAM161A"
"0000059924"	"FAM161A"
"0000059925"	"FAM161A"
"0000059926"	"FAM161A"
"0000059927"	"FAM161A"
"0000059928"	"FAM161A"
"0000059929"	"FAM161A"
"0000059930"	"FAM161A"
"0000059933"	"FAM161A"
"0000059934"	"FAM161A"
"0000059935"	"FAM161A"
"0000100502"	"FAM161A"
"0000100516"	"FAM161A"
"0000155343"	"FAM161A"
"0000156336"	"FAM161A"
"0000156339"	"FAM161A"
"0000233393"	"FAM161A"
"0000233394"	"FAM161A"
"0000233395"	"FAM161A"
"0000233396"	"FAM161A"
"0000233397"	"FAM161A"
"0000233398"	"FAM161A"
"0000233399"	"FAM161A"
"0000233400"	"FAM161A"
"0000233401"	"FAM161A"
"0000233402"	"FAM161A"
"0000234738"	"FAM161A"
"0000234739"	"FAM161A"
"0000310311"	"FAM161A"
"0000310312"	"FAM161A"
"0000310313"	"FAM161A"
"0000310314"	"FAM161A"
"0000310871"	"FAM161A"
"0000310903"	"FAM161A"
"0000329540"	"FAM161A"
"0000329548"	"FAM161A"
"0000333203"	"FAM161A"
"0000334575"	"FAM161A"
"0000334585"	"NR2E3"
"0000335054"	"FAM161A"
"0000335055"	"FAM161A"
"0000335056"	"FAM161A"
"0000335057"	"FAM161A"
"0000335058"	"FAM161A"
"0000335059"	"FAM161A"
"0000335128"	"FAM161A"
"0000335129"	"FAM161A"
"0000335130"	"FAM161A"
"0000335700"	"FAM161A"
"0000336199"	"FAM161A"
"0000336199"	"PLXNA3"
"0000336343"	"FAM161A"
"0000336344"	"FAM161A"
"0000363446"	"FAM161A"
"0000364812"	"FAM161A"
"0000364881"	"FAM161A"
"0000364888"	"FAM161A"
"0000365097"	"FAM161A"
"0000375162"	"FAM161A"
"0000380773"	"FAM161A"
"0000383099"	"FAM161A"
"0000383521"	"FAM161A"
"0000383522"	"FAM161A"
"0000383531"	"FAM161A"
"0000385188"	"FAM161A"
"0000385195"	"FAM161A"
"0000385275"	"FAM161A"
"0000385279"	"FAM161A"
"0000385291"	"FAM161A"
"0000385309"	"RP1"
"0000385354"	"FAM161A"
"0000385851"	"FAM161A"
"0000385853"	"FAM161A"
"0000387500"	"FAM161A"
"0000387933"	"FAM161A"
"0000388277"	"FAM161A"
"0000388278"	"FAM161A"
"0000389792"	"FAM161A"
"0000390117"	"FAM161A"
"0000390767"	"FAM161A"
"0000390872"	"FAM161A"
"0000391155"	"FAM161A"
"0000391176"	"FAM161A"
"0000391178"	"FAM161A"
"0000391207"	"FAM161A"
"0000391503"	"FAM161A"
"0000391504"	"FAM161A"
"0000391975"	"FAM161A"
"0000391976"	"FAM161A"
"0000393574"	"RPGR"
"0000395040"	"FAM161A"
"0000395845"	"FAM161A"
"0000395846"	"FAM161A"
"0000396658"	"FAM161A"
"0000411449"	"FAM161A"
"0000411450"	"FAM161A"
"0000411451"	"FAM161A"
"0000411452"	"FAM161A"
"0000411453"	"FAM161A"
"0000411454"	"FAM161A"
"0000411455"	"FAM161A"
"0000411457"	"FAM161A"
"0000411458"	"FAM161A"
"0000411459"	"FAM161A"
"0000411460"	"FAM161A"
"0000411461"	"FAM161A"
"0000411462"	"FAM161A"
"0000411463"	"FAM161A"
"0000411464"	"FAM161A"
"0000411476"	"FAM161A"
"0000411477"	"FAM161A"
"0000411478"	"FAM161A"
"0000411495"	"FAM161A"
"0000411496"	"FAM161A"
"0000411497"	"FAM161A"
"0000411498"	"FAM161A"
"0000411499"	"FAM161A"
"0000411500"	"FAM161A"
"0000411501"	"FAM161A"
"0000411502"	"FAM161A"
"0000428256"	"RPGR"
"0000430938"	"FAM161A"
"0000431100"	"FAM161A"
"0000431171"	"FAM161A"
"0000431178"	"FAM161A"
"0000431259"	"FAM161A"
"0000431321"	"FAM161A"


## 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 = 274
"{{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}}"
"0000090669"	"3"	"90"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00115"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Langmann 2010:20705278}"	""	"Arg229X"	""	"Germline"	""	""	"0"	""	""	"g.61840319G>A"	""	"pathogenic"	""
"0000090670"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00115"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Langmann 2010:20705278}"	""	"Arg437X"	"(Founder mutation)"	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000090671"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00115"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Langmann 2010:20705278}"	""	"Arg437X"	"(Founder mutation)"	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000090672"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00115"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Langmann 2010:20705278}"	""	"Arg437X"	"(Founder mutation)"	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000090673"	"0"	"50"	"2"	"62069482"	"62069482"	"subst"	"0.00485776"	"00115"	"FAM161A_000003"	"g.62069482G>A"	"2/366"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61842347G>A"	""	"VUS"	""
"0000090674"	"0"	"50"	"2"	"62069451"	"62069451"	"subst"	"3.90149E-5"	"00115"	"FAM161A_000004"	"g.62069451C>T"	"0/358"	"{PMID:Langmann 2010:20705278}"	""	"Pro76="	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61842316C>T"	""	"VUS"	""
"0000090675"	"0"	"50"	"2"	"62067526"	"62067526"	"subst"	"0.000105628"	"00115"	"FAM161A_000005"	"g.62067526C>G"	"0/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61840391C>G"	""	"VUS"	""
"0000090676"	"0"	"50"	"2"	"62067054"	"62067054"	"subst"	"0.00011389"	"00115"	"FAM161A_000006"	"g.62067054C>A"	"1/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61839919C>A"	""	"VUS"	""
"0000090677"	"0"	"50"	"2"	"62067006"	"62067006"	"subst"	"0.00301166"	"00115"	"FAM161A_000007"	"g.62067006A>C"	"0/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61839871A>C"	""	"VUS"	""
"0000090678"	"0"	"50"	"2"	"62067006"	"62067006"	"subst"	"0"	"00115"	"FAM161A_000008"	"g.62067006A>G"	"0/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61839871A>G"	""	"VUS"	""
"0000090679"	"0"	"50"	"2"	"62066986"	"62066986"	"subst"	"0.00330796"	"00115"	"FAM161A_000009"	"g.62066986G>C"	"2/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61839851G>C"	""	"VUS"	""
"0000090680"	"0"	"50"	"2"	"62066986"	"62066986"	"subst"	"0.00330796"	"00115"	"FAM161A_000009"	"g.62066986G>C"	"2/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61839851G>C"	""	"VUS"	""
"0000090681"	"0"	"50"	"2"	"62066986"	"62066986"	"subst"	"0.00330796"	"00115"	"FAM161A_000009"	"g.62066986G>C"	"2/400"	"{PMID:Langmann 2010:20705278}"	""	""	"Rare sequence variant of uncertain pathogenicity, heterozygous."	"Germline"	""	""	"0"	""	""	"g.61839851G>C"	""	"VUS"	""
"0000090682"	"0"	"10"	"2"	"62081012"	"62081012"	"subst"	"0"	"00115"	"FAM161A_000010"	"g.62081012C>A"	""	"{PMID:Langmann 2010:20705278}"	""	"Ala55="	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.61853877C>A"	""	"benign"	""
"0000090683"	"0"	"10"	"2"	"62069358"	"62069358"	"subst"	"0.181764"	"00115"	"FAM161A_000011"	"g.62069358T>C"	""	"{PMID:Langmann 2010:20705278}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61842223T>C"	""	"benign"	""
"0000090684"	"0"	"10"	"2"	"62067433"	"62067433"	"subst"	"0.183684"	"00115"	"FAM161A_000012"	"g.62067433T>C"	""	"{PMID:Langmann 2010:20705278}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840298T>C"	""	"benign"	""
"0000090685"	"0"	"10"	"2"	"62066927"	"62066927"	"subst"	"0.975517"	"00115"	"FAM161A_000013"	"g.62066927A>G"	""	"{PMID:Langmann 2010:20705278}"	""	"1212C>T, Cys404="	""	"Germline"	""	""	"0"	""	""	"g.61839792A>G"	""	"benign"	""
"0000090686"	"0"	"10"	"2"	"62065851"	"62065851"	"subst"	"0.187054"	"00115"	"FAM161A_000014"	"g.62065851C>T"	""	"{PMID:Langmann 2010:20705278}"	""	"none"	""	"Germline"	""	""	"0"	""	""	"g.61838716C>T"	""	"benign"	""
"0000090687"	"0"	"10"	"2"	"62065759"	"62065759"	"subst"	"0.139172"	"00115"	"FAM161A_000015"	"g.62065759C>T"	""	"{PMID:Langmann 2010:20705278}"	""	"none/Leu555="	"Depending on the isoform this variant is localized in intron3 or exon 3a"	"Germline"	""	""	"0"	""	""	"g.61838624C>T"	""	"benign"	""
"0000090691"	"3"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00115"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Sharon 2015:26261414},{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"Arg523X"	""	"Germline"	"yes"	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000090692"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090693"	"11"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00115"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}, {PMID:Kimchi 2018:29276052}"	""	"visita"	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000090694"	"21"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}, {PMID:Kimchi 2018:29276052}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090695"	"1"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00115"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"Arg523X"	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000090696"	"2"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090697"	"1"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00115"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"Arg523X"	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000090698"	"2"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090701"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090702"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090703"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090704"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090705"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090706"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090707"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090708"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090709"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090710"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090711"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090712"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090713"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090714"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090716"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090717"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090718"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00115"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"1355_6delCA, Thr452SerfsX3"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic (recessive)"	""
"0000090719"	"3"	"90"	"2"	"62063210"	"62063210"	"subst"	"0"	"00115"	"FAM161A_000018"	"g.62063210G>A"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}"	""	"Ex5, 1786C>T, Arg596X"	"Author uses a different transcript not currently registered by NCBI"	"Germline"	""	""	"0"	""	""	"g.61836075G>A"	""	"pathogenic (recessive)"	""
"0000162800"	"3"	"90"	"2"	"62063228"	"62063228"	"subst"	"0"	"01769"	"FAM161A_000020"	"g.62063228T>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61836093T>A"	""	"pathogenic"	""
"0000162815"	"3"	"90"	"2"	"62067000"	"62067000"	"subst"	"0"	"01769"	"FAM161A_000019"	"g.62067000C>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61839865C>A"	""	"pathogenic"	""
"0000245703"	"0"	"10"	"2"	"62053677"	"62053677"	"subst"	"0.00171031"	"02330"	"FAM161A_000022"	"g.62053677A>G"	""	""	""	"FAM161A(NM_001201543.1):c.2064T>C (p.I688=), FAM161A(NM_001201543.2):c.2064T>C (p.I688=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61826542A>G"	""	"benign"	""
"0000245949"	"0"	"10"	"2"	"62067724"	"62067724"	"subst"	"0"	"02330"	"FAM161A_000033"	"g.62067724A>C"	""	""	""	"FAM161A(NM_001201543.2):c.423-8T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840589A>C"	""	"benign"	""
"0000247942"	"0"	"10"	"2"	"62066927"	"62066927"	"subst"	"0.975517"	"02325"	"FAM161A_000013"	"g.62066927A>G"	""	""	""	"FAM161A(NM_001201543.1):c.1212T>C (p.C404=), FAM161A(NM_001201543.2):c.1212T>C (p.C404=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839792A>G"	""	"benign"	""
"0000248518"	"0"	"10"	"2"	"62081012"	"62081012"	"subst"	"0.975551"	"02325"	"FAM161A_000036"	"g.62081012A>C"	""	""	""	"FAM161A(NM_001201543.2):c.165T>G (p.A55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"benign"	""
"0000253203"	"0"	"10"	"2"	"62066927"	"62066927"	"subst"	"0.975517"	"01943"	"FAM161A_000013"	"g.62066927A>G"	""	""	""	"FAM161A(NM_001201543.1):c.1212T>C (p.C404=), FAM161A(NM_001201543.2):c.1212T>C (p.C404=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839792A>G"	""	"benign"	""
"0000254130"	"0"	"30"	"2"	"62053677"	"62053677"	"subst"	"0.00171031"	"01943"	"FAM161A_000022"	"g.62053677A>G"	""	""	""	"FAM161A(NM_001201543.1):c.2064T>C (p.I688=), FAM161A(NM_001201543.2):c.2064T>C (p.I688=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61826542A>G"	""	"likely benign"	""
"0000265990"	"0"	"10"	"2"	"62053619"	"62053619"	"subst"	"0.00120218"	"02330"	"FAM161A_000021"	"g.62053619C>T"	""	""	""	"FAM161A(NM_001201543.2):c.2122G>A (p.E708K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61826484C>T"	""	"benign"	""
"0000265991"	"0"	"50"	"2"	"62069452"	"62069452"	"subst"	"4.43533E-5"	"02330"	"FAM161A_000034"	"g.62069452G>A"	""	""	""	"FAM161A(NM_001201543.2):c.227C>T (p.P76L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61842317G>A"	""	"VUS"	""
"0000265992"	"0"	"10"	"2"	"62067723"	"62067723"	"subst"	"0.00175224"	"02330"	"FAM161A_000032"	"g.62067723G>A"	""	""	""	"FAM161A(NM_001201543.2):c.423-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840588G>A"	""	"benign"	""
"0000265993"	"0"	"10"	"2"	"62067419"	"62067419"	"subst"	"6.91046E-5"	"02330"	"FAM161A_000031"	"g.62067419C>T"	""	""	""	"FAM161A(NM_001201543.2):c.720G>A (p.E240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840284C>T"	""	"benign"	""
"0000265994"	"0"	"10"	"2"	"62081105"	"62081105"	"subst"	"0"	"02330"	"FAM161A_000037"	"g.62081105T>G"	""	""	""	"FAM161A(NM_001201543.2):c.72A>C (p.G24=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61853970T>G"	""	"benign"	""
"0000265995"	"0"	"10"	"2"	"62067233"	"62067233"	"subst"	"0.00170761"	"02330"	"FAM161A_000030"	"g.62067233T>C"	""	""	""	"FAM161A(NM_001201543.2):c.906A>G (p.Q302=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840098T>C"	""	"benign"	""
"0000265996"	"0"	"30"	"2"	"62067223"	"62067223"	"subst"	"0.00016266"	"02330"	"FAM161A_000029"	"g.62067223G>A"	""	""	""	"FAM161A(NM_001201543.2):c.916C>T (p.R306W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840088G>A"	""	"likely benign"	""
"0000276564"	"0"	"90"	"2"	"62067001"	"62067001"	"subst"	"4.07707E-6"	"01943"	"FAM161A_000027"	"g.62067001G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1138C>T (p.R380*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839866G>A"	""	"pathogenic"	""
"0000276565"	"0"	"30"	"2"	"62066986"	"62066986"	"subst"	"0.00330796"	"01943"	"FAM161A_000009"	"g.62066986G>C"	""	""	""	"FAM161A(NM_001201543.1):c.1153C>G (p.Q385E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839851G>C"	""	"likely benign"	""
"0000276566"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"01943"	"FAM161A_000002"	"g.62066830T>A"	""	""	""	"FAM161A(NM_001201543.1):c.1309A>T (p.R437*), FAM161A(NM_001201543.2):c.1309A>T (p.R437*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000276567"	"0"	"30"	"2"	"62065822"	"62065822"	"subst"	"8.92667E-5"	"01943"	"FAM161A_000026"	"g.62065822C>T"	""	""	""	"FAM161A(NM_001201543.1):c.1602G>A (p.K534=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61838687C>T"	""	"likely benign"	""
"0000276568"	"0"	"30"	"2"	"62081001"	"62081001"	"subst"	"2.04028E-5"	"01943"	"FAM161A_000035"	"g.62081001C>T"	""	""	""	"FAM161A(NM_001201543.1):c.176G>A (p.G59E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61853866C>T"	""	"likely benign"	""
"0000276569"	"0"	"30"	"2"	"62054286"	"62054286"	"subst"	"0.00637484"	"01943"	"FAM161A_000025"	"g.62054286C>A"	""	""	""	"FAM161A(NM_001201543.1):c.1959G>T (p.E653D, p.(Glu653Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61827151C>A"	""	"likely benign"	""
"0000276570"	"0"	"30"	"2"	"62054256"	"62054256"	"subst"	"0.000231664"	"01943"	"FAM161A_000024"	"g.62054256G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1989C>T (p.V663=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61827121G>A"	""	"likely benign"	""
"0000276571"	"0"	"30"	"2"	"62053738"	"62053738"	"subst"	"0"	"01943"	"FAM161A_000023"	"g.62053738G>C"	""	""	""	"FAM161A(NM_001201543.1):c.2007-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61826603G>C"	""	"likely benign"	""
"0000276572"	"0"	"50"	"2"	"62067222"	"62067222"	"subst"	"8.13173E-6"	"01943"	"FAM161A_000028"	"g.62067222C>T"	""	""	""	"FAM161A(NM_001201543.1):c.917G>A (p.R306Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840087C>T"	""	"VUS"	""
"0000327034"	"0"	"50"	"2"	"62054286"	"62054286"	"subst"	"0.00637484"	"01804"	"FAM161A_000025"	"g.62054286C>A"	""	""	""	"FAM161A(NM_001201543.1):c.1959G>T (p.E653D, p.(Glu653Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61827151C>A"	""	"VUS"	""
"0000338531"	"0"	"10"	"2"	"62065851"	"62065851"	"subst"	"0.187054"	"02327"	"FAM161A_000014"	"g.62065851C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61838716C>T"	""	"benign"	""
"0000340332"	"0"	"10"	"2"	"62066927"	"62066927"	"subst"	"0.975517"	"02327"	"FAM161A_000013"	"g.62066927A>G"	""	""	""	"FAM161A(NM_001201543.1):c.1212T>C (p.C404=), FAM161A(NM_001201543.2):c.1212T>C (p.C404=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839792A>G"	""	"benign"	""
"0000343056"	"0"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"02327"	"FAM161A_000016"	"g.62066572G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1567C>T (p.R523*), FAM161A(NM_001201543.2):c.1567C>T (p.R523*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic"	""
"0000346645"	"0"	"10"	"2"	"62067433"	"62067433"	"subst"	"0.183684"	"02327"	"FAM161A_000012"	"g.62067433T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61840298T>C"	""	"benign"	""
"0000355056"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"01243"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bandah-Rozenfeld 2010:20705279}, {PMID:Kimchi 2018:29276052}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic"	""
"0000358258"	"3"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"01243"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000358261"	"0"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"01243"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic"	""
"0000358441"	"0"	"90"	"2"	"62066818"	"62066818"	"dup"	"0"	"01243"	"FAM161A_000040"	"g.62066818dup"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839683dup"	""	"pathogenic"	""
"0000476101"	"0"	"50"	"2"	"62065796"	"62065796"	"subst"	"8.48248E-6"	"02591"	"FAM161A_000041"	"g.62065796C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs374748539"	"0"	""	""	"g.61838661C>T"	""	"VUS"	""
"0000476102"	"0"	"50"	"2"	"62066748"	"62066748"	"subst"	"0.000255925"	"02591"	"FAM161A_000042"	"g.62066748T>C"	"12/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs201315315"	"0"	""	""	"g.61839613T>C"	""	"VUS"	""
"0000476103"	"0"	"50"	"2"	"62066925"	"62066925"	"subst"	"4.07957E-6"	"02591"	"FAM161A_000043"	"g.62066925C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839790C>G"	""	"VUS"	""
"0000476104"	"0"	"50"	"2"	"62067026"	"62067026"	"subst"	"2.03591E-5"	"02591"	"FAM161A_000044"	"g.62067026G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs764517474"	"0"	""	""	"g.61839891G>C"	""	"VUS"	""
"0000476105"	"0"	"50"	"2"	"62067223"	"62067223"	"subst"	"0.00016266"	"02591"	"FAM161A_000029"	"g.62067223G>A"	"8/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs183615774"	"0"	""	""	"g.61840088G>A"	""	"VUS"	""
"0000476106"	"3"	"50"	"2"	"62067259"	"62067259"	"subst"	"4.06752E-6"	"02591"	"FAM161A_000045"	"g.62067259G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs751327149"	"0"	""	""	"g.61840124G>A"	""	"VUS"	""
"0000476107"	"0"	"10"	"2"	"62067433"	"62067433"	"subst"	"0.183684"	"02591"	"FAM161A_000012"	"g.62067433T>C"	"157/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs17513722"	"0"	""	""	"g.61840298T>C"	""	"benign"	""
"0000476108"	"0"	"10"	"2"	"62069358"	"62069358"	"subst"	"0.181764"	"02591"	"FAM161A_000011"	"g.62069358T>C"	"424/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs11125895"	"0"	""	""	"g.61842223T>C"	""	"benign"	""
"0000476109"	"0"	"50"	"2"	"62081068"	"62081068"	"subst"	"4.06977E-6"	"02591"	"FAM161A_000046"	"g.62081068T>C"	"9/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs200976538"	"0"	""	""	"g.61853933T>C"	""	"VUS"	""
"0000476110"	"0"	"50"	"2"	"62081135"	"62081135"	"subst"	"0"	"02591"	"FAM161A_000047"	"g.62081135A>C"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61854000A>C"	""	"VUS"	""
"0000477446"	"3"	"10"	"2"	"62067433"	"62067433"	"subst"	"0.183684"	"02591"	"FAM161A_000012"	"g.62067433T>C"	"8/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs17513722"	"0"	""	""	"g.61840298T>C"	""	"benign"	""
"0000477447"	"3"	"10"	"2"	"62069358"	"62069358"	"subst"	"0.181764"	"02591"	"FAM161A_000011"	"g.62069358T>C"	"55/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs11125895"	"0"	""	""	"g.61842223T>C"	""	"benign"	""
"0000516531"	"0"	"50"	"2"	"62053620"	"62053622"	"del"	"0"	"01943"	"FAM161A_000048"	"g.62053620_62053622del"	""	""	""	"FAM161A(NM_001201543.1):c.2124_2126delAGA (p.E709del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61826485_61826487del"	""	"VUS"	""
"0000516532"	"0"	"50"	"2"	"62053720"	"62053720"	"subst"	"0"	"01943"	"FAM161A_000049"	"g.62053720T>G"	""	""	""	"FAM161A(NM_001201543.1):c.2021A>C (p.E674A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61826585T>G"	""	"VUS"	""
"0000516533"	"0"	"30"	"2"	"62054266"	"62054266"	"subst"	"0"	"01943"	"FAM161A_000050"	"g.62054266G>C"	""	""	""	"FAM161A(NM_001201543.1):c.1979C>G (p.T660R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61827131G>C"	""	"likely benign"	""
"0000516534"	"0"	"10"	"2"	"62066538"	"62066538"	"subst"	"0"	"02330"	"FAM161A_000051"	"g.62066538T>G"	""	""	""	"FAM161A(NM_001201543.2):c.1583+18A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839403T>G"	""	"benign"	""
"0000516535"	"0"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"02330"	"FAM161A_000016"	"g.62066572G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1567C>T (p.R523*), FAM161A(NM_001201543.2):c.1567C>T (p.R523*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839437G>A"	""	"pathogenic"	""
"0000516536"	"0"	"50"	"2"	"62066598"	"62066598"	"subst"	"0"	"01804"	"FAM161A_000052"	"g.62066598G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1541C>T (p.(Pro514Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839463G>A"	""	"VUS"	""
"0000516537"	"0"	"30"	"2"	"62066655"	"62066655"	"subst"	"2.84324E-5"	"01943"	"FAM161A_000053"	"g.62066655C>T"	""	""	""	"FAM161A(NM_001201543.1):c.1484G>A (p.R495H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839520C>T"	""	"likely benign"	""
"0000516538"	"0"	"50"	"2"	"62066748"	"62066748"	"subst"	"0.000255925"	"02330"	"FAM161A_000042"	"g.62066748T>C"	""	""	""	"FAM161A(NM_001201543.2):c.1391A>G (p.H464R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839613T>C"	""	"VUS"	""
"0000516540"	"0"	"30"	"2"	"62067006"	"62067006"	"subst"	"0.00301166"	"02330"	"FAM161A_000007"	"g.62067006A>C"	""	""	""	"FAM161A(NM_001201543.1):c.1133T>G (p.L378R, p.(Leu378Arg)), FAM161A(NM_001201543.2):c.1133T>G (p.L378R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839871A>C"	""	"likely benign"	""
"0000516541"	"0"	"30"	"2"	"62067006"	"62067006"	"subst"	"0.00301166"	"01943"	"FAM161A_000007"	"g.62067006A>C"	""	""	""	"FAM161A(NM_001201543.1):c.1133T>G (p.L378R, p.(Leu378Arg)), FAM161A(NM_001201543.2):c.1133T>G (p.L378R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839871A>C"	""	"likely benign"	""
"0000516542"	"0"	"30"	"2"	"62067006"	"62067006"	"subst"	"0.00301166"	"01804"	"FAM161A_000007"	"g.62067006A>C"	""	""	""	"FAM161A(NM_001201543.1):c.1133T>G (p.L378R, p.(Leu378Arg)), FAM161A(NM_001201543.2):c.1133T>G (p.L378R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839871A>C"	""	"likely benign"	""
"0000516543"	"0"	"10"	"2"	"62067126"	"62067126"	"subst"	"0.00161657"	"02330"	"FAM161A_000054"	"g.62067126C>T"	""	""	""	"FAM161A(NM_001201543.1):c.1013G>A (p.R338Q), FAM161A(NM_001201543.2):c.1013G>A (p.R338Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839991C>T"	""	"benign"	""
"0000516544"	"0"	"10"	"2"	"62067126"	"62067126"	"subst"	"0.00161657"	"01943"	"FAM161A_000054"	"g.62067126C>T"	""	""	""	"FAM161A(NM_001201543.1):c.1013G>A (p.R338Q), FAM161A(NM_001201543.2):c.1013G>A (p.R338Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839991C>T"	""	"benign"	""
"0000516545"	"0"	"30"	"2"	"62067212"	"62067212"	"subst"	"0"	"01943"	"FAM161A_000055"	"g.62067212A>T"	""	""	""	"FAM161A(NM_001201543.1):c.927T>A (p.S309=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61840077A>T"	""	"likely benign"	""
"0000516546"	"0"	"90"	"2"	"62067235"	"62067235"	"subst"	"0"	"01943"	"FAM161A_000056"	"g.62067235G>A"	""	""	""	"FAM161A(NM_001201543.1):c.904C>T (p.Q302*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61840100G>A"	""	"pathogenic"	""
"0000516547"	"0"	"10"	"2"	"62067322"	"62067322"	"subst"	"0.00123555"	"01943"	"FAM161A_000057"	"g.62067322C>T"	""	""	""	"FAM161A(NM_001201543.1):c.817G>A (p.E273K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61840187C>T"	""	"benign"	""
"0000516548"	"0"	"30"	"2"	"62067696"	"62067696"	"subst"	"0"	"01804"	"FAM161A_000058"	"g.62067696G>A"	""	""	""	"FAM161A(NM_001201543.1):c.443C>T (p.(Ser148Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61840561G>A"	""	"likely benign"	""
"0000516549"	"0"	"50"	"2"	"62069325"	"62069325"	"subst"	"0.000564756"	"02330"	"FAM161A_000059"	"g.62069325C>A"	""	""	""	"FAM161A(NM_001201543.2):c.354G>T (p.Q118H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61842190C>A"	""	"VUS"	""
"0000516550"	"0"	"10"	"2"	"62069482"	"62069482"	"subst"	"0.00485776"	"02330"	"FAM161A_000003"	"g.62069482G>A"	""	""	""	"FAM161A(NM_001201543.1):c.197C>T (p.T66I), FAM161A(NM_001201543.2):c.197C>T (p.T66I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61842347G>A"	""	"benign"	""
"0000516552"	"0"	"50"	"2"	"62069492"	"62069492"	"subst"	"0"	"02330"	"FAM161A_000060"	"g.62069492C>T"	""	""	""	"FAM161A(NM_001201543.2):c.187G>A (p.D63N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61842357C>T"	""	"VUS"	""
"0000516553"	"0"	"10"	"2"	"62069512"	"62069512"	"subst"	"0.000472453"	"02330"	"FAM161A_000061"	"g.62069512A>T"	""	""	""	"FAM161A(NM_001201543.2):c.184-17T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61842377A>T"	""	"benign"	""
"0000608067"	"0"	"30"	"2"	"62054352"	"62054352"	"subst"	"2.43839E-5"	"01943"	"FAM161A_000062"	"g.62054352G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1893C>T (p.T631=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61827217G>A"	""	"likely benign"	""
"0000621098"	"0"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"01943"	"FAM161A_000016"	"g.62066572G>A"	""	""	""	"FAM161A(NM_001201543.1):c.1567C>T (p.R523*), FAM161A(NM_001201543.2):c.1567C>T (p.R523*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839437G>A"	""	"pathogenic"	""
"0000621099"	"0"	"30"	"2"	"62067095"	"62067095"	"subst"	"7.31303E-5"	"01943"	"FAM161A_000063"	"g.62067095A>G"	""	""	""	"FAM161A(NM_001201543.1):c.1044T>C (p.Y348=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839960A>G"	""	"likely benign"	""
"0000654704"	"0"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"02330"	"FAM161A_000039"	"g.62066638del"	""	""	""	"FAM161A(NM_001201543.1):c.1501delT (p.C501Vfs*4), FAM161A(NM_001201543.2):c.1501delT (p.C501Vfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839503del"	""	"pathogenic"	""
"0000654705"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"02330"	"FAM161A_000002"	"g.62066830T>A"	""	""	""	"FAM161A(NM_001201543.1):c.1309A>T (p.R437*), FAM161A(NM_001201543.2):c.1309A>T (p.R437*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000654706"	"0"	"30"	"2"	"62067441"	"62067441"	"subst"	"6.09721E-5"	"01943"	"FAM161A_000064"	"g.62067441A>G"	""	""	""	"FAM161A(NM_001201543.1):c.698T>C (p.V233A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61840306A>G"	""	"likely benign"	""
"0000654707"	"0"	"10"	"2"	"62069482"	"62069482"	"subst"	"0.00485776"	"01943"	"FAM161A_000003"	"g.62069482G>A"	""	""	""	"FAM161A(NM_001201543.1):c.197C>T (p.T66I), FAM161A(NM_001201543.2):c.197C>T (p.T66I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61842347G>A"	""	"benign"	""
"0000667207"	"3"	"70"	"2"	"62063166"	"62063166"	"del"	"4.0832E-6"	"01807"	"FAM161A_000065"	"g.62063166del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000685222"	"0"	"70"	"2"	"62065673"	"62065673"	"subst"	"0"	"00004"	"FAM161A_000066"	"g.62065673C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"NM_001201543.1:c.1751G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685223"	"0"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00004"	"FAM161A_000016"	"g.62066572G>A"	"18/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685224"	"0"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00004"	"FAM161A_000017"	"g.62066784_62066785del"	"66/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685225"	"0"	"90"	"2"	"62066818"	"62066818"	"dup"	"0"	"00004"	"FAM161A_000040"	"g.62066818dup"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000686012"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00006"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Kimchi 2018:29276052}"	""	"1355_6delCA (Thr452Serfs*3)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686044"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00006"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Kimchi 2018:29276052}"	""	"1355_6delCA (Thr452Serfs*3)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000704530"	"3"	"90"	"2"	"62066679"	"62066679"	"del"	"0"	"01807"	"FAM161A_000067"	"g.62066679del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000713663"	"3"	"90"	"2"	"62067458"	"62067461"	"del"	"0"	"00000"	"FAM161A_000069"	"g.62067458_62067461del"	""	"{PMID:Carss 2017:28041643}"	""	"2:62067457TCTTC>T ENST00000404929.1:c.678_681delGAAG (Lys227AsnfsTer17)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713671"	"3"	"90"	"2"	"62067357"	"62067357"	"del"	"4.06547E-6"	"00000"	"FAM161A_000068"	"g.62067357del"	""	"{PMID:Carss 2017:28041643}"	""	"2:62067356AT>A ENST00000404929.1:c.782delA (Asp261ValfsTer39)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000730627"	"3"	"90"	"2"	"62067169"	"62067169"	"del"	"0"	"00000"	"FAM161A_000070"	"g.62067169del"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840034del"	""	"pathogenic (recessive)"	""
"0000730990"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs397704718"	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic (recessive)"	""
"0000731040"	"0"	"50"	"2"	"62067006"	"62067006"	"subst"	"0.00301166"	"00000"	"FAM161A_000007"	"g.62067006A>C"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs187695569"	"0"	""	""	"g.61839871A>C"	""	"VUS"	""
"0000731099"	"0"	"50"	"2"	"62067162"	"62067162"	"subst"	"2.43724E-5"	"00000"	"FAM161A_000071"	"g.62067162T>G"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs745318331"	"0"	""	""	"g.61840027T>G"	""	"VUS"	""
"0000732428"	"1"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Villanueva 2018:28945494}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000732431"	"2"	"90"	"2"	"62063237"	"62063237"	"subst"	"0"	"00000"	"FAM161A_000073"	"g.62063237C>A"	""	"{PMID:Villanueva 2018:28945494}"	""	"NM_001201543.1:c.1759G>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61836102C>A"	""	"pathogenic (recessive)"	""
"0000732491"	"0"	"50"	"2"	"62063123"	"62063123"	"subst"	"0.000107628"	"00000"	"FAM161A_000093"	"g.62063123C>T"	""	"{PMID:Costa 2017:28912962}"	""	"1851+22G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000732519"	"0"	"90"	"2"	"62067006"	"62067006"	"subst"	"0.00301166"	"00000"	"FAM161A_000007"	"g.62067006A>C"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000733063"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000733064"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000733065"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000733066"	"1"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000733067"	"1"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000733068"	"3"	"70"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Stone 2017:28559085}"	""	"1501delT"	""	"Germline"	""	""	"0"	""	""	"g.61839503del"	""	"likely pathogenic"	""
"0000733137"	"1"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000733138"	"1"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000733139"	"1"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000733531"	"2"	"70"	"2"	"62053708"	"62053711"	"del"	"0"	"00000"	"FAM161A_000038"	"g.62053708_62053711del"	""	"{PMID:Stone 2017:28559085}"	""	"2030_2033delAAGA (Ile767del4atAAGA)"	""	"Germline"	""	""	"0"	""	""	"g.61826573_61826576del"	""	"likely pathogenic"	""
"0000733532"	"2"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Stone 2017:28559085}"	""	"1354_1355delAC"	""	"Germline"	""	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000733585"	"2"	"70"	"2"	"62054291"	"62054291"	"subst"	"8.12552E-6"	"00000"	"FAM161A_000072"	"g.62054291G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61827156G>A"	""	"likely pathogenic"	""
"0000733586"	"2"	"70"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Stone 2017:28559085}"	""	"1501delT"	""	"Germline"	""	""	"0"	""	""	"g.61839503del"	""	"likely pathogenic"	""
"0000733587"	"2"	"70"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Stone 2017:28559085}"	""	"1501delT"	""	"Germline"	""	""	"0"	""	""	"g.61839503del"	""	"likely pathogenic"	""
"0000734418"	"3"	"90"	"2"	"62067462"	"62067465"	"del"	"0"	"00000"	"FAM161A_000069"	"g.62067462_62067465del"	""	"{PMID:Habibi 2016:27874104}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840327_61840330del"	""	"pathogenic (recessive)"	""
"0000735350"	"3"	"70"	"2"	"62067235"	"62067235"	"subst"	"0"	"00000"	"FAM161A_000056"	"g.62067235G>A"	""	"{PMID:Jin 2017:28373534}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840100G>A"	""	"likely pathogenic"	""
"0000735618"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	"NM_001201543.1:1309A>T (Arg437*)"	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000735619"	"0"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	"NM_001201543.1:1501del (Cys501fs)"	""	"Germline"	"yes"	""	"0"	""	""	"g.61839503del"	""	"pathogenic"	""
"0000735740"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	"NM_001201543.1:1309A>T (Arg437*)"	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	""
"0000735741"	"0"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	"NM_001201543.1:1501del (Cys501fs)"	""	"Germline"	"yes"	""	"0"	""	""	"g.61839503del"	""	"pathogenic"	""
"0000759937"	"3"	"90"	"2"	"62063189"	"62063189"	"subst"	"0"	"00000"	"FAM161A_000074"	"g.62063189C>A"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001201543.1:c.1807G>T"	""	"Germline"	""	""	"0"	""	""	"g.61836054C>A"	""	"pathogenic"	""
"0000760086"	"0"	"50"	"2"	"62067258"	"62067258"	"subst"	"8.13524E-6"	"00000"	"FAM161A_000076"	"g.62067258G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001201543.1:c.881C>T"	""	"Germline"	""	""	"0"	""	""	"g.61840123G>A"	""	"VUS"	""
"0000760252"	"0"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000760277"	"3"	"50"	"2"	"62066675"	"62066675"	"subst"	"1.21857E-5"	"00000"	"FAM161A_000075"	"g.62066675C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000760301"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000760472"	"0"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000764101"	"3"	"90"	"2"	"62063243"	"62063246"	"del"	"0"	"04043"	"FAM161A_000077"	"g.62063243_62063246del"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61836108_61836111del"	""	"pathogenic (recessive)"	""
"0000765754"	"0"	"70"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00000"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840319G>A"	""	"likely pathogenic"	""
"0000765823"	"0"	"70"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00000"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840319G>A"	""	"likely pathogenic"	""
"0000765830"	"0"	"70"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00000"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840319G>A"	""	"likely pathogenic"	""
"0000766051"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00004"	"FAM161A_000017"	"g.62066784_62066785del"	"66/2420 IRD families"	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	"1355_6delCA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000784432"	"0"	"50"	"2"	"62067411"	"62067411"	"subst"	"2.43924E-5"	"00000"	"FAM161A_000079"	"g.62067411T>G"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61840276T>G"	""	"VUS"	""
"0000784477"	"0"	"50"	"2"	"62066863"	"62066863"	"subst"	"4.06848E-6"	"00000"	"FAM161A_000078"	"g.62066863A>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839728A>C"	""	"VUS"	""
"0000784497"	"0"	"50"	"2"	"62066863"	"62066863"	"subst"	"4.06848E-6"	"00000"	"FAM161A_000078"	"g.62066863A>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839728A>C"	""	"VUS"	""
"0000785404"	"1"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic (recessive)"	""
"0000785412"	"2"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839503del"	""	"pathogenic (recessive)"	""
"0000786457"	"1"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic (recessive)"	""
"0000786498"	"2"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic (recessive)"	""
"0000790412"	"1"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000790492"	"2"	"50"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Wang 2014:25097241}"	""	"c.1501delT"	""	"Germline"	""	""	"0"	""	""	"g.61839503del"	""	"VUS"	""
"0000790523"	"0"	"50"	"2"	"62053620"	"62053622"	"del"	"0"	"00000"	"FAM161A_000048"	"g.62053620_62053622del"	""	"{PMID:Wang 2014:25097241}"	""	"c.1956_1958delAGA"	""	"Germline"	""	""	"0"	""	""	"g.61826485_61826487del"	""	"VUS"	""
"0000790589"	"0"	"50"	"2"	"62069325"	"62069325"	"subst"	"0.000564756"	"00000"	"FAM161A_000059"	"g.62069325C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs140622968"	"0"	""	""	"g.61842190C>A"	""	"VUS"	""
"0000790615"	"0"	"50"	"2"	"62054286"	"62054286"	"subst"	"0.00637484"	"00000"	"FAM161A_000025"	"g.62054286C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs201052209"	"0"	""	""	"g.61827151C>A"	""	"VUS"	""
"0000793968"	"1"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:O\'Sullivan-2012:22581970}"	""	"c.[1309A>T]+[1567C>G]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793969"	"2"	"70"	"2"	"62066572"	"62066572"	"subst"	"0.000182879"	"00000"	"FAM161A_000080"	"g.62066572G>C"	""	"{PMID:O\'Sullivan-2012:22581970}"	""	"c.[1309A>T]+[1567C>G]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797091"	"3"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.1567C>T, p.Arg523*"	"Homozygous"	"Germline"	"?"	"rs202193201"	"0"	""	""	"g.61839437G>A"	""	"pathogenic"	"ACMG"
"0000797666"	"0"	"90"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"FAM161A c.1567C>T, p.(Arg523*), c.1309A>T, p.(Arg437*)"	""	"Germline"	"?"	""	"0"	""	""	"g.61839437G>A"	""	"pathogenic"	"ACMG"
"0000797667"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"FAM161A c.1567C>T, p.(Arg523*), c.1309A>T, p.(Arg437*)"	""	"Germline"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	"ACMG"
"0000797668"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"FAM161A c.1309A>T, p.(Arg437*), c.1309A>T, p.(Arg437*)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	"ACMG"
"0000797683"	"3"	"70"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"FAM161A c.1501del, p.(Cys501Valfs*4), c.1501delp.(Cys501Valfs*4)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61839503del"	""	"likely pathogenic"	"ACMG"
"0000811692"	"3"	"70"	"2"	"62067196"	"62067196"	"subst"	"0"	"00000"	"FAM161A_000081"	"g.62067196T>A"	""	"{PMID:Hu 2019:31236346}"	""	"c.943A>T p.Lys315*"	"EQT33_II-1 and II:2 genders differ between the table and the pedigree; here taken from pedigree and text"	"Germline"	"yes"	""	"0"	""	""	"g.61840061T>A"	""	"likely pathogenic"	""
"0000811693"	"3"	"70"	"2"	"62067196"	"62067196"	"subst"	"0"	"00000"	"FAM161A_000081"	"g.62067196T>A"	""	"{PMID:Hu 2019:31236346}"	""	"c.943A>T p.Lys315*"	"EQT33_II-1 and II:2 genders differ between the table and the pedigree; here taken from pedigree and text"	"Germline"	"yes"	""	"0"	""	""	"g.61840061T>A"	""	"likely pathogenic"	""
"0000812095"	"0"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.1309A>T p.(Arg437*), Ex.3 c.1309A>T p.(Arg437*), ABCA4: p.(Val1433Ile) Ex.29 c.4297G>A"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000812107"	"0"	"70"	"2"	"62067411"	"62067411"	"del"	"0"	"00000"	"FAM161A_000082"	"g.62067411del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.730del  p.(Met244*), Ex.3 c.1567C>T  p.(Arg523*), IMPG2: Ex.12 c.1483C>T p.(Gln495*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61840276del"	""	"likely pathogenic"	""
"0000812108"	"0"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.730del  p.(Met244*), Ex.3 c.1567C>T  p.(Arg523*), IMPG2: Ex.12 c.1483C>T p.(Gln495*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000812239"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000812245"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000812263"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000812292"	"0"	"70"	"2"	"62069322"	"62069322"	"del"	"0"	"00000"	"FAM161A_000083"	"g.62069322del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RP1 Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), FAM161A: Ex.2 c.357del p.(Asp119Glufs*5)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61842187del"	""	"likely pathogenic"	""
"0000812368"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000813008"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Ehrenberg 2019:31814694}"	""	"FAM161A (NM_001201543; OMIM: 613596): c.1355_1356del; p.Thr452Serfs*3 (hom) (RP), TMC1 (NM_138691; OMIM: 606706): c.1939T>C; p.Ser647Pro (hom) (HL)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000813010"	"3"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Ehrenberg 2019:31814694}"	""	"FAM161A (NM_001201543; OMIM: 613596): c.1567C>T; p.Arg523* (hom) (RP), MEFV (NM_000243.2; OMIM: 608107): c.2080A>G; p.Met694Val (hom) (FMF)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000815384"	"0"	"50"	"2"	"62066986"	"62066986"	"subst"	"0.00330796"	"00000"	"FAM161A_000009"	"g.62066986G>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"FAM161A:NM_001201543 c.C1153G, p.Q385E"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.61839851G>C"	""	"VUS"	"ACMG"
"0000816091"	"0"	"70"	"2"	"62067155"	"62067155"	"dup"	"0"	"00000"	"FAM161A_000084"	"g.62067155dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"FAM161A c.984dup, p.Ala329SerfsTer19"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61840020dup"	""	"likely pathogenic"	""
"0000816417"	"0"	"70"	"2"	"62067155"	"62067155"	"dup"	"0"	"00000"	"FAM161A_000084"	"g.62067155dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.984dup, p.Ala329SerfsTer19"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61840020dup"	""	"likely pathogenic"	""
"0000816737"	"1"	"70"	"2"	"62067406"	"62067406"	"subst"	"0"	"00000"	"FAM161A_000085"	"g.62067406T>C"	""	"{PMID:Jauregui 2020:32098976}"	""	"FAM161A c.733A>G, p.M254V"	"error in annotation, c.733A>G causes p.(Met245Val) and not p.(Met254Val) , compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61840271T>C"	""	"likely pathogenic"	""
"0000816738"	"3"	"70"	"2"	"62066818"	"62066818"	"dup"	"0"	"00000"	"FAM161A_000040"	"g.62066818dup"	""	"{PMID:Jauregui 2020:32098976}"	""	"FAM161A c.1321dupC, p.H441PfsX15"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839683dup"	""	"likely pathogenic"	""
"0000816839"	"2"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"FAM161A c.1309A>T, p.R437X"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000819051"	"3"	"90"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Dineiro 2020:32483926}"	""	"FAM161A c.1355_1356delCA, p.(Thr452Serfs*3)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61839649_61839650del"	""	"pathogenic"	"ACMG"
"0000819462"	"1"	"70"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.1501del/p.C501Vfs*4, variant 2: c.1501del/p.C501Vfs*4"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839503del"	""	"likely pathogenic"	""
"0000820112"	"1"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.1309A>T/p.R437*, variant 2: c.1309A>T/p.R437*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000820217"	"1"	"70"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"00000"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.1501del/p.C501Vfs*4, variant 2: c.1501del/p.C501Vfs*4"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839503del"	""	"likely pathogenic"	""
"0000820500"	"1"	"70"	"2"	"62066572"	"62066572"	"subst"	"4.87678E-5"	"00000"	"FAM161A_000016"	"g.62066572G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.1567C>T/p.R523*, variant 2: c.1567C>T/p.R523*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839437G>A"	""	"likely pathogenic"	""
"0000820521"	"1"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.1309A>T/p.R437*, variant 2: c.1309A>T/p.R437*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000820523"	"1"	"70"	"2"	"62066927"	"62066927"	"subst"	"4.0798E-6"	"00000"	"FAM161A_000086"	"g.62066927A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.1212T>A/p.C404*, variant 2: c.1212T>A/p.C404*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839792A>T"	""	"likely pathogenic"	""
"0000820552"	"1"	"70"	"2"	"62067292"	"62067292"	"subst"	"2.4418E-5"	"00000"	"FAM161A_000088"	"g.62067292G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.847C>T/p.R283*, variant 2: c.1205C>G/p.S402*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61840157G>A"	""	"likely pathogenic"	""
"0000820972"	"1"	"70"	"2"	"62066934"	"62066934"	"subst"	"0"	"00000"	"FAM161A_000087"	"g.62066934G>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"FAM161A, variant 1: c.847C>T/p.R283*, variant 2: c.1205C>G/p.S402*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61839799G>C"	""	"likely pathogenic"	""
"0000821252"	"3"	"70"	"2"	"62067462"	"62067465"	"del"	"0"	"00000"	"FAM161A_000069"	"g.62067462_62067465del"	""	"{PMID:Turro 2020:32581362}"	""	"FAM161A c.678_681delGAAG, p.Lys227AsnfsTer17"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61840327_61840330del"	""	"likely pathogenic"	""
"0000821253"	"3"	"70"	"2"	"62067357"	"62067357"	"del"	"4.06547E-6"	"00000"	"FAM161A_000068"	"g.62067357del"	""	"{PMID:Turro 2020:32581362}"	""	"FAM161A c.782delA, p.Asp261ValfsTer39"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61840222del"	""	"likely pathogenic"	""
"0000822048"	"3"	"70"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00000"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Habibi 2020:32641690}"	""	"FAM161A c.[685C > T];[685C > T], p.[R229*];[R229*]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61840319G>A"	""	"likely pathogenic"	""
"0000822049"	"3"	"70"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00000"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Habibi 2020:32641690}"	""	"FAM161A c.[685C > T];[685C > T], p.[R229*];[R229*]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61840319G>A"	""	"likely pathogenic"	""
"0000824352"	"0"	"90"	"2"	"62065672"	"62065841"	"del"	"0"	"00000"	"FAM161A_000094"	"g.(62063245_62065672)_(62065841_62066555)del"	""	"{PMID:Xiao-2021:33598457}"	""	"FAM161A 19kb+del, p.(?)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.(61836110_61838537)_(61838706_61839420)del"	""	"pathogenic"	"ACMG"
"0000824353"	"0"	"90"	"2"	"62065782"	"62065782"	"subst"	"0"	"00000"	"FAM161A_000089"	"g.62065782G>A"	""	"{PMID:Xiao-2021:33598457}"	""	"FAM161A c.1642C>T, p.(Q548*)"	""	"Unknown"	"yes"	""	"0"	""	""	"g.61838647G>A"	""	"pathogenic"	"ACMG"
"0000826205"	"3"	"70"	"2"	"62066675"	"62066675"	"subst"	"1.21857E-5"	"00000"	"FAM161A_000075"	"g.62066675C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.1464G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827279"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1309A>T"	""	"Germline"	""	"rs200691042"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827280"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1309A>T"	""	"Germline"	""	"rs200691042"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000828309"	"3"	"90"	"2"	"62063175"	"62063176"	"del"	"0"	"00000"	"FAM161A_000090"	"g.62063175_62063176del"	""	"{PMID:Shen 2021:34130719}"	""	"FAM161A c.1654_1655delAG, p.R552Afs*5"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61836040_61836041del"	""	"pathogenic"	""
"0000829418"	"0"	"50"	"2"	"27600408"	"62081181"	"dup"	"0"	"00000"	"FSHR_000025"	"g.27600408_62081181dup"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr2:27600408–62081181"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000829420"	"0"	"50"	"2"	"27600408"	"62081181"	"dup"	"0"	"00006"	"FAM161A_000000"	"g.(?_27600408)_(62081181_?)dup"	""	"{PMID:Ellingsford 2018:29074561}"	""	"27600408–62081181dup"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000849979"	"0"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"01943"	"FAM161A_000039"	"g.62066638del"	""	""	""	"FAM161A(NM_001201543.1):c.1501delT (p.C501Vfs*4), FAM161A(NM_001201543.2):c.1501delT (p.C501Vfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000849980"	"0"	"50"	"2"	"62066922"	"62066922"	"subst"	"0"	"01943"	"FAM161A_000092"	"g.62066922C>T"	""	""	""	"FAM161A(NM_001201543.1):c.1217G>A (p.C406Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858630"	"0"	"30"	"2"	"62066588"	"62066588"	"subst"	"0.000625543"	"02330"	"FAM161A_000091"	"g.62066588C>T"	""	""	""	"FAM161A(NM_001201543.2):c.1551G>A (p.T517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000868572"	"3"	"70"	"2"	"62067136"	"62067136"	"subst"	"1.21856E-5"	"00000"	"FAM161A_000096"	"g.62067136G>A"	""	"{PMID:Zobor 2014:24520187}"	""	"FAM161A c.1003C>T/p.R335X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61840001G>A"	""	"likely pathogenic"	""
"0000868573"	"3"	"70"	"2"	"62067136"	"62067136"	"subst"	"1.21856E-5"	"00000"	"FAM161A_000096"	"g.62067136G>A"	""	"{PMID:Zobor 2014:24520187}"	""	"FAM161A c.1003C>T/p.R335X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61840001G>A"	""	"likely pathogenic"	""
"0000868574"	"3"	"70"	"2"	"62067136"	"62067136"	"subst"	"1.21856E-5"	"00000"	"FAM161A_000096"	"g.62067136G>A"	""	"{PMID:Zobor 2014:24520187}"	""	"FAM161A c.1003C>T/p.R335X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61840001G>A"	""	"likely pathogenic"	""
"0000868575"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Venturini 2014:24651477}"	""	"FAM161A c.1355_6delCA, p.Thr452SerfsX3"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000868576"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Venturini 2014:24651477}"	""	"FAM161A c.1355_6delCA, p.Thr452SerfsX3"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000868577"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Venturini 2014:24651477}"	""	"FAM161A c.1355_6delCA, p.Thr452SerfsX3"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000868578"	"3"	"70"	"2"	"62066784"	"62066785"	"del"	"0"	"00000"	"FAM161A_000017"	"g.62066784_62066785del"	""	"{PMID:Venturini 2014:24651477}"	""	"FAM161A c.1355_6delCA, p.Thr452SerfsX3"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61839649_61839650del"	""	"likely pathogenic"	""
"0000868581"	"3"	"70"	"2"	"62067136"	"62067136"	"subst"	"1.21856E-5"	"00000"	"FAM161A_000096"	"g.62067136G>A"	""	"{PMID:Duncan 2014:25007332}"	""	"FAM161A c. 1105 C>T, p.Arg335Ter"	"error in annotation, Arg335* is actually caused by c.1003C>T and not c. 1105 C>T; homozygous; both mutations in cis"	"Germline"	"yes"	""	"0"	""	""	"g.61840001G>A"	""	"likely pathogenic"	""
"0000868582"	"3"	"70"	"2"	"62067136"	"62067136"	"subst"	"1.21856E-5"	"00000"	"FAM161A_000096"	"g.62067136G>A"	""	"{PMID:Duncan 2014:25007332}"	""	"FAM161A c. 1105 C>T, p.Arg335Ter"	"error in annotation, Arg335* is actually caused by c.1003C>T and not c. 1105 C>T; homozygous; both mutations in cis"	"Germline"	"yes"	""	"0"	""	""	"g.61840001G>A"	""	"likely pathogenic"	""
"0000868583"	"3"	"70"	"2"	"62067136"	"62067136"	"subst"	"1.21856E-5"	"00000"	"FAM161A_000096"	"g.62067136G>A"	""	"{PMID:Duncan 2014:25007332}"	""	"FAM161A c. 1105 C>T, p.Arg335Ter"	"error in annotation, Arg335* is actually caused by c.1003C>T and not c. 1105 C>T; homozygous; both mutations in cis"	"Germline"	"yes"	""	"0"	""	""	"g.61840001G>A"	""	"likely pathogenic"	""
"0000868584"	"3"	"30"	"2"	"62054286"	"62054286"	"subst"	"0.00637484"	"00000"	"FAM161A_000025"	"g.62054286C>A"	""	"{PMID:Duncan 2014:25007332}"	""	"FAM161A c.1791 G>T, p.Glu597Asp"	"homozygous; both mutations in cis"	"Germline"	"yes"	""	"0"	""	""	"g.61827151C>A"	""	"likely benign"	""
"0000868585"	"3"	"30"	"2"	"62054286"	"62054286"	"subst"	"0.00637484"	"00000"	"FAM161A_000025"	"g.62054286C>A"	""	"{PMID:Duncan 2014:25007332}"	""	"FAM161A c.1791 G>T, p.Glu597Asp"	"homozygous; both mutations in cis"	"Germline"	"yes"	""	"0"	""	""	"g.61827151C>A"	""	"likely benign"	""
"0000868586"	"3"	"30"	"2"	"62054286"	"62054286"	"subst"	"0.00637484"	"00000"	"FAM161A_000025"	"g.62054286C>A"	""	"{PMID:Duncan 2014:25007332}"	""	"FAM161A c.1791 G>T, p.Glu597Asp"	"homozygous; both mutations in cis"	"Germline"	"yes"	""	"0"	""	""	"g.61827151C>A"	""	"likely benign"	""
"0000868587"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Rose 2015:26113502}"	""	"FAM161A c.1309A4T, p.Arg437*"	"apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome"	"Unknown"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868588"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Rose 2015:26113502}"	""	"FAM161A c.1309A4T, p.Arg437*"	"apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868589"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Rose 2015:26113502}"	""	"FAM161A c.1309A4T, p.Arg437*"	"apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868590"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Rose 2015:26113502}"	""	"FAM161A c.1309A4T, p.Arg437*"	"apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868591"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Rose 2015:26113502}"	""	"FAM161A c.1309A4T, p.Arg437*"	"apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868612"	"3"	"70"	"2"	"62063222"	"62063223"	"del"	"0"	"00000"	"FAM161A_000095"	"g.62063222_62063223del"	""	"{PMID:Zhou 2015:26246154}"	""	"FAM161A p.R592FsX2"	"no nucleotide annotation, extrapolated from sequence and databases; first affected amino acid rule and 3\' nucleotide rule shift it to p.E593IfsX20; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61836087_61836088del"	""	"likely pathogenic"	""
"0000868613"	"3"	"70"	"2"	"62063222"	"62063223"	"del"	"0"	"00000"	"FAM161A_000095"	"g.62063222_62063223del"	""	"{PMID:Zhou 2015:26246154}"	""	"FAM161A p.R592FsX2"	"no nucleotide annotation, extrapolated from sequence and databases; first affected amino acid rule and 3\' nucleotide rule shift it to p.E593IfsX20; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61836087_61836088del"	""	"likely pathogenic"	""
"0000868614"	"3"	"70"	"2"	"62063222"	"62063223"	"del"	"0"	"00000"	"FAM161A_000095"	"g.62063222_62063223del"	""	"{PMID:Zhou 2015:26246154}"	""	"FAM161A p.R592FsX2"	"no nucleotide annotation, extrapolated from sequence and databases; first affected amino acid rule and 3\' nucleotide rule shift it to p.E593IfsX20; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61836087_61836088del"	""	"likely pathogenic"	""
"0000868631"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868632"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868633"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868634"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868635"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868636"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868637"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000868638"	"3"	"70"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Van Schil 2015:26574802}"	""	"FAM161A c.1309A4T, p.Arg437*"	"homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect)"	"Germline"	"yes"	""	"0"	""	""	"g.61839695T>A"	""	"likely pathogenic"	""
"0000905952"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00000"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Zhu 2022:35456422}"	""	"FAM161A c.1309A>T, p.(Arg437*)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic"	"ACMG"
"0000915839"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"04436"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1309A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916064"	"1"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"04436"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1501del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916065"	"2"	"50"	"2"	"62066572"	"62066572"	"subst"	"0.000182879"	"04436"	"FAM161A_000080"	"g.62066572G>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1567C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916174"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"04436"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1309A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916185"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"04436"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1309A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916317"	"3"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"04436"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1309A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916413"	"1"	"90"	"2"	"62066638"	"62066638"	"del"	"6.90462E-5"	"04436"	"FAM161A_000039"	"g.62066638del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1501del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916414"	"2"	"70"	"2"	"62065718"	"62065719"	"del"	"0"	"04436"	"FAM161A_000097"	"g.62065718_62065719del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1705_1706del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000958325"	"3"	"90"	"2"	"62063166"	"62063166"	"del"	"4.0832E-6"	"00006"	"FAM161A_000065"	"g.62063166del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61836031del"	""	"pathogenic (recessive)"	"ACMG"
"0000958328"	"0"	"90"	"2"	"62067104"	"62067105"	"ins"	"0"	"00006"	"FAM161A_000099"	"g.62067104_62067105insG"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61839969_61839970insG"	""	"pathogenic (recessive)"	"ACMG"
"0000958374"	"3"	"90"	"2"	"62066679"	"62066679"	"del"	"0"	"00006"	"FAM161A_000067"	"g.62066679del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61839544del"	""	"pathogenic (recessive)"	"ACMG"
"0000958614"	"0"	"90"	"2"	"62066845"	"62066845"	"subst"	"0"	"00006"	"FAM161A_000098"	"g.62066845C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61839710C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000958672"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00006"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	"36"	"pathogenic (recessive)"	"ACMG"
"0000959059"	"0"	"90"	"2"	"62066830"	"62066830"	"subst"	"0.000276385"	"00006"	"FAM161A_000002"	"g.62066830T>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.61839695T>A"	""	"pathogenic (recessive)"	"ACMG"
"0000959082"	"0"	"90"	"2"	"62067454"	"62067454"	"subst"	"8.13233E-6"	"00006"	"FAM161A_000001"	"g.62067454G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61840319G>A"	"35"	"pathogenic (recessive)"	"ACMG"
"0000959469"	"21"	"90"	"2"	"62067646"	"62067646"	"subst"	"4.06458E-6"	"00006"	"FAM161A_000100"	"g.62067646G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PVS1, PM2, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.61840511G>A"	""	"pathogenic (recessive)"	"ACMG"


## 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 FAM161A
## Count = 274
"{{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}}"
"0000090669"	"00024224"	"90"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229*)"	"3"
"0000090670"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000090671"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000090672"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000090673"	"00024224"	"50"	"197"	"0"	"197"	"0"	"c.197C>T"	"r.(?)"	"p.(Thr66Ile)"	"2"
"0000090674"	"00024224"	"50"	"228"	"0"	"228"	"0"	"c.228G>A"	"r.(?)"	"p.(=)"	"2"
"0000090675"	"00024224"	"50"	"613"	"0"	"613"	"0"	"c.613G>C"	"r.(?)"	"p.(Asp205His)"	"3"
"0000090676"	"00024224"	"50"	"1085"	"0"	"1085"	"0"	"c.1085G>T"	"r.(?)"	"p.(Arg362Leu)"	"3"
"0000090677"	"00024224"	"50"	"1133"	"0"	"1133"	"0"	"c.1133T>G"	"r.(?)"	"p.(Leu378Arg)"	"3"
"0000090678"	"00024224"	"50"	"1133"	"0"	"1133"	"0"	"c.1133T>C"	"r.(?)"	"p.(Leu378Pro)"	"3"
"0000090679"	"00024224"	"50"	"1153"	"0"	"1153"	"0"	"c.1153C>G"	"r.(?)"	"p.(Gln385Glu)"	"3"
"0000090680"	"00024224"	"50"	"1153"	"0"	"1153"	"0"	"c.1153C>G"	"r.(?)"	"p.(Gln385Glu)"	"3"
"0000090681"	"00024224"	"50"	"1153"	"0"	"1153"	"0"	"c.1153C>G"	"r.(?)"	"p.(Gln385Glu)"	"3"
"0000090682"	"00024224"	"10"	"165"	"0"	"165"	"0"	"c.165G>T"	"r.(?)"	"p.(Ala55=)"	"1"
"0000090683"	"00024224"	"10"	"321"	"0"	"321"	"0"	"c.321A>G"	"r.(?)"	"p.(Ile107Met)"	"2"
"0000090684"	"00024224"	"10"	"706"	"0"	"706"	"0"	"c.706A>G"	"r.(?)"	"p.(Ile236Val)"	"3"
"0000090685"	"00024224"	"10"	"1212"	"0"	"1212"	"0"	"c.1212T>C"	"r.(?)"	"p.(=)"	"3"
"0000090686"	"00024224"	"10"	"1584"	"-11"	"1584"	"-11"	"c.1584-11G>A"	"r.(?)"	"p.(=)"	"3i"
"0000090687"	"00024224"	"10"	"1665"	"0"	"1665"	"0"	"c.1665G>A"	"r.(?)"	"p.(Leu555=)"	"4"
"0000090691"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000090692"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090693"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000090694"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090695"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000090696"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090697"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000090698"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090701"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090702"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090703"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090704"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090705"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090706"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090707"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090708"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090709"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090710"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090711"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090712"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090713"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090714"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090716"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090717"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090718"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000090719"	"00024224"	"90"	"1786"	"0"	"1786"	"0"	"c.1786C>T"	"r.(?)"	"p.(Arg596Ter)"	"5"
"0000162800"	"00024224"	"90"	"1768"	"0"	"1768"	"0"	"c.1768A>T"	"r.(?)"	"p.(Arg590Trp)"	"5"
"0000162815"	"00024224"	"90"	"1139"	"0"	"1139"	"0"	"c.1139G>T"	"r.(?)"	"p.(Arg380Leu)"	"3"
"0000245703"	"00024224"	"10"	"2064"	"0"	"2064"	"0"	"c.2064T>C"	"r.(?)"	"p.(Ile688=)"	""
"0000245949"	"00024224"	"10"	"423"	"-8"	"423"	"-8"	"c.423-8T>G"	"r.(=)"	"p.(=)"	""
"0000247942"	"00024224"	"10"	"1212"	"0"	"1212"	"0"	"c.1212T>C"	"r.(?)"	"p.(Cys404=)"	""
"0000248518"	"00024224"	"10"	"165"	"0"	"165"	"0"	"c.165="	"r.(=)"	"p.(Ala55=)"	""
"0000253203"	"00024224"	"10"	"1212"	"0"	"1212"	"0"	"c.1212T>C"	"r.(?)"	"p.(Cys404=)"	""
"0000254130"	"00024224"	"30"	"2064"	"0"	"2064"	"0"	"c.2064T>C"	"r.(?)"	"p.(Ile688=)"	""
"0000265990"	"00024224"	"10"	"2122"	"0"	"2122"	"0"	"c.2122G>A"	"r.(?)"	"p.(Glu708Lys)"	""
"0000265991"	"00024224"	"50"	"227"	"0"	"227"	"0"	"c.227C>T"	"r.(?)"	"p.(Pro76Leu)"	""
"0000265992"	"00024224"	"10"	"423"	"-7"	"423"	"-7"	"c.423-7C>T"	"r.(=)"	"p.(=)"	""
"0000265993"	"00024224"	"10"	"720"	"0"	"720"	"0"	"c.720G>A"	"r.(?)"	"p.(Glu240=)"	""
"0000265994"	"00024224"	"10"	"72"	"0"	"72"	"0"	"c.72A>C"	"r.(?)"	"p.(Gly24=)"	""
"0000265995"	"00024224"	"10"	"906"	"0"	"906"	"0"	"c.906A>G"	"r.(?)"	"p.(Gln302=)"	""
"0000265996"	"00024224"	"30"	"916"	"0"	"916"	"0"	"c.916C>T"	"r.(?)"	"p.(Arg306Trp)"	""
"0000276564"	"00024224"	"90"	"1138"	"0"	"1138"	"0"	"c.1138C>T"	"r.(?)"	"p.(Arg380Ter)"	""
"0000276565"	"00024224"	"30"	"1153"	"0"	"1153"	"0"	"c.1153C>G"	"r.(?)"	"p.(Gln385Glu)"	""
"0000276566"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	""
"0000276567"	"00024224"	"30"	"1602"	"0"	"1602"	"0"	"c.1602G>A"	"r.(?)"	"p.(Lys534=)"	""
"0000276568"	"00024224"	"30"	"176"	"0"	"176"	"0"	"c.176G>A"	"r.(?)"	"p.(Gly59Glu)"	""
"0000276569"	"00024224"	"30"	"1959"	"0"	"1959"	"0"	"c.1959G>T"	"r.(?)"	"p.(Glu653Asp)"	""
"0000276570"	"00024224"	"30"	"1989"	"0"	"1989"	"0"	"c.1989C>T"	"r.(?)"	"p.(Val663=)"	""
"0000276571"	"00024224"	"30"	"2007"	"-4"	"2007"	"-4"	"c.2007-4C>G"	"r.spl?"	"p.?"	""
"0000276572"	"00024224"	"50"	"917"	"0"	"917"	"0"	"c.917G>A"	"r.(?)"	"p.(Arg306Gln)"	""
"0000327034"	"00024224"	"50"	"1959"	"0"	"1959"	"0"	"c.1959G>T"	"r.(?)"	"p.(Glu653Asp)"	""
"0000338531"	"00024224"	"10"	"1584"	"-11"	"1584"	"-11"	"c.1584-11G>A"	"r.(=)"	"p.(=)"	""
"0000340332"	"00024224"	"10"	"1212"	"0"	"1212"	"0"	"c.1212T>C"	"r.(?)"	"p.(Cys404=)"	""
"0000343056"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523Ter)"	""
"0000346645"	"00024224"	"10"	"706"	"0"	"706"	"0"	"c.706A>G"	"r.(?)"	"p.(Ile236Val)"	""
"0000355056"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(1355_1356del)"	"p.(Thr452Serfs*3)"	"3"
"0000358258"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000358261"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000358441"	"00024224"	"90"	"1321"	"0"	"1321"	"0"	"c.1321dup"	"r.(?)"	"p.(His441Profs*15)"	"3"
"0000476101"	"00024224"	"50"	"1628"	"0"	"1628"	"0"	"c.1628G>A"	"r.(?)"	"p.(Arg543Gln)"	""
"0000476102"	"00024224"	"50"	"1391"	"0"	"1391"	"0"	"c.1391A>G"	"r.(?)"	"p.(His464Arg)"	""
"0000476103"	"00024224"	"50"	"1214"	"0"	"1214"	"0"	"c.1214G>C"	"r.(?)"	"p.(Gly405Ala)"	""
"0000476104"	"00024224"	"50"	"1113"	"0"	"1113"	"0"	"c.1113C>G"	"r.(?)"	"p.(Asp371Glu)"	""
"0000476105"	"00024224"	"50"	"916"	"0"	"916"	"0"	"c.916C>T"	"r.(?)"	"p.(Arg306Trp)"	""
"0000476106"	"00024224"	"50"	"880"	"0"	"880"	"0"	"c.880C>T"	"r.(?)"	"p.(Pro294Ser)"	""
"0000476107"	"00024224"	"10"	"706"	"0"	"706"	"0"	"c.706A>G"	"r.(?)"	"p.(Ile236Val)"	""
"0000476108"	"00024224"	"10"	"321"	"0"	"321"	"0"	"c.321A>G"	"r.(?)"	"p.(Ile107Met)"	""
"0000476109"	"00024224"	"50"	"109"	"0"	"109"	"0"	"c.109A>G"	"r.(?)"	"p.(Lys37Glu)"	""
"0000476110"	"00024224"	"50"	"42"	"0"	"42"	"0"	"c.42T>G"	"r.(?)"	"p.(Ser14Arg)"	""
"0000477446"	"00024224"	"10"	"706"	"0"	"706"	"0"	"c.706A>G"	"r.(?)"	"p.(Ile236Val)"	""
"0000477447"	"00024224"	"10"	"321"	"0"	"321"	"0"	"c.321A>G"	"r.(?)"	"p.(Ile107Met)"	""
"0000516531"	"00024224"	"50"	"2124"	"0"	"2126"	"0"	"c.2124_2126del"	"r.(?)"	"p.(Glu709del)"	""
"0000516532"	"00024224"	"50"	"2021"	"0"	"2021"	"0"	"c.2021A>C"	"r.(?)"	"p.(Glu674Ala)"	""
"0000516533"	"00024224"	"30"	"1979"	"0"	"1979"	"0"	"c.1979C>G"	"r.(?)"	"p.(Thr660Arg)"	""
"0000516534"	"00024224"	"10"	"1583"	"18"	"1583"	"18"	"c.1583+18A>C"	"r.(=)"	"p.(=)"	""
"0000516535"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523Ter)"	""
"0000516536"	"00024224"	"50"	"1541"	"0"	"1541"	"0"	"c.1541C>T"	"r.(?)"	"p.(Pro514Leu)"	""
"0000516537"	"00024224"	"30"	"1484"	"0"	"1484"	"0"	"c.1484G>A"	"r.(?)"	"p.(Arg495His)"	""
"0000516538"	"00024224"	"50"	"1391"	"0"	"1391"	"0"	"c.1391A>G"	"r.(?)"	"p.(His464Arg)"	""
"0000516540"	"00024224"	"30"	"1133"	"0"	"1133"	"0"	"c.1133T>G"	"r.(?)"	"p.(Leu378Arg)"	""
"0000516541"	"00024224"	"30"	"1133"	"0"	"1133"	"0"	"c.1133T>G"	"r.(?)"	"p.(Leu378Arg)"	""
"0000516542"	"00024224"	"30"	"1133"	"0"	"1133"	"0"	"c.1133T>G"	"r.(?)"	"p.(Leu378Arg)"	""
"0000516543"	"00024224"	"10"	"1013"	"0"	"1013"	"0"	"c.1013G>A"	"r.(?)"	"p.(Arg338Gln)"	""
"0000516544"	"00024224"	"10"	"1013"	"0"	"1013"	"0"	"c.1013G>A"	"r.(?)"	"p.(Arg338Gln)"	""
"0000516545"	"00024224"	"30"	"927"	"0"	"927"	"0"	"c.927T>A"	"r.(?)"	"p.(Ser309=)"	""
"0000516546"	"00024224"	"90"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Gln302Ter)"	""
"0000516547"	"00024224"	"10"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Glu273Lys)"	""
"0000516548"	"00024224"	"30"	"443"	"0"	"443"	"0"	"c.443C>T"	"r.(?)"	"p.(Ser148Phe)"	""
"0000516549"	"00024224"	"50"	"354"	"0"	"354"	"0"	"c.354G>T"	"r.(?)"	"p.(Gln118His)"	""
"0000516550"	"00024224"	"10"	"197"	"0"	"197"	"0"	"c.197C>T"	"r.(?)"	"p.(Thr66Ile)"	""
"0000516552"	"00024224"	"50"	"187"	"0"	"187"	"0"	"c.187G>A"	"r.(?)"	"p.(Asp63Asn)"	""
"0000516553"	"00024224"	"10"	"184"	"-17"	"184"	"-17"	"c.184-17T>A"	"r.(=)"	"p.(=)"	""
"0000608067"	"00024224"	"30"	"1893"	"0"	"1893"	"0"	"c.1893C>T"	"r.(?)"	"p.(Thr631=)"	""
"0000621098"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523Ter)"	""
"0000621099"	"00024224"	"30"	"1044"	"0"	"1044"	"0"	"c.1044T>C"	"r.(?)"	"p.(Tyr348=)"	""
"0000654704"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501ValfsTer4)"	""
"0000654705"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	""
"0000654706"	"00024224"	"30"	"698"	"0"	"698"	"0"	"c.698T>C"	"r.(?)"	"p.(Val233Ala)"	""
"0000654707"	"00024224"	"10"	"197"	"0"	"197"	"0"	"c.197C>T"	"r.(?)"	"p.(Thr66Ile)"	""
"0000667207"	"00024224"	"70"	"1830"	"0"	"1830"	"0"	"c.1830del"	"r.(?)"	"p.(Leu611Tyrfs*22)"	""
"0000685222"	"00024224"	"70"	"1751"	"0"	"1751"	"0"	"c.1751G>A"	"r.spl?"	"p.(Arg584Lys)"	""
"0000685223"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000685224"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000685225"	"00024224"	"90"	"1321"	"0"	"1321"	"0"	"c.1321dup"	"r.(?)"	"p.(His441Profs*15)"	"3"
"0000686012"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	""
"0000686044"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	""
"0000704530"	"00024224"	"90"	"1460"	"0"	"1460"	"0"	"c.1460del"	"r.(?)"	"p.(Arg487LeufsTer13)"	""
"0000713663"	"00024224"	"90"	"678"	"0"	"681"	"0"	"c.678_681del"	"r.(?)"	"p.(Lys227Asnfs*17)"	""
"0000713671"	"00024224"	"90"	"782"	"0"	"782"	"0"	"c.782del"	"r.(?)"	"p.(Asp261Valfs*39)"	""
"0000730627"	"00024224"	"90"	"971"	"0"	"971"	"0"	"c.971del"	"r.(?)"	"p.(Pro324Hisfs*5)"	"3"
"0000730990"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000731040"	"00024224"	"50"	"1133"	"0"	"1133"	"0"	"c.1133T>G"	"r.(?)"	"p.(Leu378Arg)"	"3"
"0000731099"	"00024224"	"50"	"977"	"0"	"977"	"0"	"c.977A>C"	"r.(?)"	"p.(Lys326Thr)"	"3"
"0000732428"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000732431"	"00024224"	"90"	"1759"	"0"	"1759"	"0"	"c.1759G>T"	"r.(?)"	"p.(Glu587Ter)"	"5"
"0000732491"	"00024224"	"50"	"1851"	"22"	"1851"	"22"	"c.1851+22G>A"	"r.(/)"	"p.(=)"	""
"0000732519"	"00024224"	"90"	"1133"	"0"	"1133"	"0"	"c.1133T>G"	"r.(?)"	"p.(Leu378Arg)"	"3"
"0000733063"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000733064"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000733065"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000733066"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000733067"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000733068"	"00024224"	"70"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	"3"
"0000733137"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000733138"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000733139"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000733531"	"00024224"	"70"	"2034"	"0"	"2037"	"0"	"c.2034_2037del"	"r.(?)"	"p.(Glu680Metfs*97)"	"7"
"0000733532"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000733585"	"00024224"	"70"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Leu652Phe)"	"6"
"0000733586"	"00024224"	"70"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	"3"
"0000733587"	"00024224"	"70"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	"3"
"0000734418"	"00024224"	"90"	"678"	"0"	"681"	"0"	"c.678_681del"	"r.(?)"	"p.(Lys227Asnfs*17)"	"3"
"0000735350"	"00024224"	"70"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Gln302*)"	"3"
"0000735618"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000735619"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	""
"0000735740"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000735741"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	""
"0000759937"	"00024224"	"90"	"1807"	"0"	"1807"	"0"	"c.1807G>T"	"r.(?)"	"p.(Glu603*)"	""
"0000760086"	"00024224"	"50"	"881"	"0"	"881"	"0"	"c.881C>T"	"r.(?)"	"p.(Pro294Leu)"	""
"0000760252"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523Ter)"	"3"
"0000760277"	"00024224"	"50"	"1464"	"0"	"1464"	"0"	"c.1464G>A"	"r.(?)"	"p.(Trp488Ter)"	"3"
"0000760301"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	"3"
"0000760472"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	"3"
"0000764101"	"00024224"	"90"	"1753"	"0"	"1756"	"0"	"c.1753_1756del"	"r.1753_1756del"	"p.Lys585Alafs*6"	""
"0000765754"	"00024224"	"70"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Ter)"	"3"
"0000765823"	"00024224"	"70"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Ter)"	"3"
"0000765830"	"00024224"	"70"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Ter)"	"3"
"0000766051"	"00024224"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000784432"	"00024224"	"50"	"728"	"0"	"728"	"0"	"c.728A>C"	"r.(?)"	"p.(Gln243Pro)"	"3"
"0000784477"	"00024224"	"50"	"1276"	"0"	"1276"	"0"	"c.1276T>G"	"r.(?)"	"p.(Cys426Gly)"	"3"
"0000784497"	"00024224"	"50"	"1276"	"0"	"1276"	"0"	"c.1276T>G"	"r.(?)"	"p.(Cys426Gly)"	"3"
"0000785404"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	"3"
"0000785412"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501ValfsTer4)"	"3"
"0000786457"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523Ter)"	"3"
"0000786498"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	"3"
"0000790412"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	"3"
"0000790492"	"00024224"	"50"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501ValfsTer4)"	"3"
"0000790523"	"00024224"	"50"	"2124"	"0"	"2126"	"0"	"c.2124_2126del"	"r.(?)"	"p.(Glu709del)"	"7"
"0000790589"	"00024224"	"50"	"354"	"0"	"354"	"0"	"c.354G>T"	"r.(?)"	"p.(Gln118His)"	"2"
"0000790615"	"00024224"	"50"	"1959"	"0"	"1959"	"0"	"c.1959G>T"	"r.(?)"	"p.(Glu653Asp)"	"6"
"0000793968"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000793969"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>G"	"r.(?)"	"p.(Arg523Gly)"	"3"
"0000797091"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000797666"	"00024224"	"90"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000797667"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000797668"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000797683"	"00024224"	"70"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	"3"
"0000811692"	"00024224"	"70"	"943"	"0"	"943"	"0"	"c.943A>T"	"r.(?)"	"p.(Lys315*)"	"3"
"0000811693"	"00024224"	"70"	"943"	"0"	"943"	"0"	"c.943A>T"	"r.(?)"	"p.(Lys315*)"	"3"
"0000812095"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000812107"	"00024224"	"70"	"730"	"0"	"730"	"0"	"c.730del"	"r.(?)"	"p.(Met244*)"	"3"
"0000812108"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000812239"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000812245"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000812263"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000812292"	"00024224"	"70"	"357"	"0"	"357"	"0"	"c.357del"	"r.(?)"	"p.(Asp119Glufs*5)"	"2"
"0000812368"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000813008"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356del"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000813010"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	"3"
"0000815384"	"00024224"	"50"	"1153"	"0"	"1153"	"0"	"c.1153C>G"	"r.(?)"	"p.(Gln385Glu)"	""
"0000816091"	"00024224"	"70"	"984"	"0"	"984"	"0"	"c.984dup"	"r.(?)"	"p.(Ala329Serfs*19)"	"3"
"0000816417"	"00024224"	"70"	"984"	"0"	"984"	"0"	"c.984dup"	"r.(?)"	"p.(Ala329Serfs*19)"	"3"
"0000816737"	"00024224"	"70"	"733"	"0"	"733"	"0"	"c.733A>G"	"r.(?)"	"p.(Met245Val)"	""
"0000816738"	"00024224"	"70"	"1321"	"0"	"1321"	"0"	"c.1321dup"	"r.(?)"	"p.(His441Profs*15)"	""
"0000816839"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000819051"	"00024224"	"90"	"1354"	"0"	"1355"	"0"	"c.1354_1355del"	"r.(?)"	"p.(Thr452Serfs*3)"	""
"0000819462"	"00024224"	"70"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	""
"0000820112"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000820217"	"00024224"	"70"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	""
"0000820500"	"00024224"	"70"	"1567"	"0"	"1567"	"0"	"c.1567C>T"	"r.(?)"	"p.(Arg523*)"	""
"0000820521"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000820523"	"00024224"	"70"	"1212"	"0"	"1212"	"0"	"c.1212T>A"	"r.(?)"	"p.(Cys404*)"	""
"0000820552"	"00024224"	"70"	"847"	"0"	"847"	"0"	"c.847C>T"	"r.(?)"	"p.(Arg283*)"	""
"0000820972"	"00024224"	"70"	"1205"	"0"	"1205"	"0"	"c.1205C>G"	"r.(?)"	"p.(Ser402*)"	""
"0000821252"	"00024224"	"70"	"674"	"0"	"677"	"0"	"c.674_677del"	"r.(?)"	"p.(Lys227Asnfs*17)"	""
"0000821253"	"00024224"	"70"	"782"	"0"	"782"	"0"	"c.782del"	"r.(?)"	"p.(Asp261Valfs*39)"	""
"0000822048"	"00024224"	"70"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229*)"	""
"0000822049"	"00024224"	"70"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229*)"	""
"0000824352"	"00024224"	"90"	"1584"	"-1"	"1751"	"1"	"c.(1583+1_1584-1)_(1751+1_1752-1)del"	"r.(?)"	"p.(?)"	"3i_4i"
"0000824353"	"00024224"	"90"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Gln548*)"	"s1_5"
"0000826205"	"00024224"	"70"	"1464"	"0"	"1464"	"0"	"c.1464G>A"	"r.(?)"	"p.(Trp488*)"	"3"
"0000827279"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000827280"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000828309"	"00024224"	"90"	"1820"	"0"	"1821"	"0"	"c.1820_1821del"	"r.(?)"	"p.(Arg608Alafs*5)"	""
"0000829418"	"00024224"	"50"	"-5"	"0"	"8388607"	"0"	"c.-5_*34453182dup"	"r.0?"	"p.0?"	""
"0000829420"	"00024224"	"50"	"0"	"0"	"0"	"0"	"c.(?_-5)_*1607{2}"	"r.?"	"p.?"	"_1_7_"
"0000849979"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501ValfsTer4)"	""
"0000849980"	"00024224"	"50"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Cys406Tyr)"	""
"0000858630"	"00024224"	"30"	"1551"	"0"	"1551"	"0"	"c.1551G>A"	"r.(?)"	"p.(Thr517=)"	""
"0000868572"	"00024224"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335*)"	""
"0000868573"	"00024224"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335*)"	""
"0000868574"	"00024224"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335*)"	""
"0000868575"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356delCA"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000868576"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356delCA"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000868577"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356delCA"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000868578"	"00024224"	"70"	"1355"	"0"	"1356"	"0"	"c.1355_1356delCA"	"r.(?)"	"p.(Thr452Serfs*3)"	"3"
"0000868581"	"00024224"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335*)"	""
"0000868582"	"00024224"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335*)"	""
"0000868583"	"00024224"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335*)"	""
"0000868584"	"00024224"	"30"	"1791"	"0"	"1791"	"0"	"c.1791G>T"	"r.(?)"	"p.(Glu597Asp)"	""
"0000868585"	"00024224"	"30"	"1791"	"0"	"1791"	"0"	"c.1791G>T"	"r.(?)"	"p.(Glu597Asp)"	""
"0000868586"	"00024224"	"30"	"1791"	"0"	"1791"	"0"	"c.1791G>T"	"r.(?)"	"p.(Glu597Asp)"	""
"0000868587"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868588"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868589"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868590"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868591"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868612"	"00024224"	"70"	"1777"	"0"	"1778"	"0"	"c.1777_1778del"	"r.(?)"	"p.(Glu593Ilefs*20)"	""
"0000868613"	"00024224"	"70"	"1777"	"0"	"1778"	"0"	"c.1777_1778del"	"r.(?)"	"p.(Glu593Ilefs*20)"	""
"0000868614"	"00024224"	"70"	"1777"	"0"	"1778"	"0"	"c.1777_1778del"	"r.(?)"	"p.(Glu593Ilefs*20)"	""
"0000868631"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868632"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868633"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868634"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868635"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868636"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868637"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000868638"	"00024224"	"70"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000905952"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	""
"0000915839"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000916064"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	"3"
"0000916065"	"00024224"	"50"	"1567"	"0"	"1567"	"0"	"c.1567C>G"	"r.(?)"	"p.(Arg523Gly)"	"3"
"0000916174"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000916185"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000916317"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437*)"	"3"
"0000916413"	"00024224"	"90"	"1501"	"0"	"1501"	"0"	"c.1501del"	"r.(?)"	"p.(Cys501Valfs*4)"	"3"
"0000916414"	"00024224"	"70"	"1705"	"0"	"1706"	"0"	"c.1705_1706del"	"r.(?)"	"p.(His569Serfs*8)"	"4"
"0000958325"	"00024224"	"90"	"1830"	"0"	"1830"	"0"	"c.1830del"	"r.(?)"	"p.(Leu611TyrfsTer22)"	""
"0000958328"	"00024224"	"90"	"1034"	"0"	"1035"	"0"	"c.1034_1035insC"	"r.(?)"	"p.(Leu346SerfsTer2)"	""
"0000958374"	"00024224"	"90"	"1460"	"0"	"1460"	"0"	"c.1460del"	"r.(?)"	"p.(Arg487LeufsTer13)"	""
"0000958614"	"00024224"	"90"	"1294"	"0"	"1294"	"0"	"c.1294G>T"	"r.(?)"	"p.(Glu432Ter)"	""
"0000958672"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	""
"0000959059"	"00024224"	"90"	"1309"	"0"	"1309"	"0"	"c.1309A>T"	"r.(?)"	"p.(Arg437Ter)"	""
"0000959082"	"00024224"	"90"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Ter)"	""
"0000959469"	"00024224"	"90"	"493"	"0"	"493"	"0"	"c.493C>T"	"r.(?)"	"p.(Gln165Ter)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 215
"{{screeningid}}"	"{{variantid}}"
"0000059738"	"0000090669"
"0000059739"	"0000090670"
"0000059740"	"0000090671"
"0000059741"	"0000090672"
"0000059743"	"0000090691"
"0000059744"	"0000090692"
"0000059747"	"0000090701"
"0000059748"	"0000090702"
"0000059749"	"0000090703"
"0000059750"	"0000090704"
"0000059751"	"0000090705"
"0000059752"	"0000090706"
"0000059753"	"0000090707"
"0000059754"	"0000090708"
"0000059755"	"0000090709"
"0000059756"	"0000090710"
"0000059757"	"0000090711"
"0000059758"	"0000090712"
"0000059759"	"0000090713"
"0000059760"	"0000090714"
"0000059762"	"0000090716"
"0000059763"	"0000090717"
"0000059764"	"0000090718"
"0000059765"	"0000090719"
"0000059916"	"0000090673"
"0000059917"	"0000090674"
"0000059918"	"0000090675"
"0000059919"	"0000090676"
"0000059920"	"0000090677"
"0000059921"	"0000090678"
"0000059922"	"0000090679"
"0000059923"	"0000090680"
"0000059924"	"0000090681"
"0000059925"	"0000090682"
"0000059926"	"0000090683"
"0000059927"	"0000090684"
"0000059928"	"0000090685"
"0000059929"	"0000090686"
"0000059930"	"0000090687"
"0000059933"	"0000090693"
"0000059933"	"0000090694"
"0000059934"	"0000090695"
"0000059934"	"0000090696"
"0000059935"	"0000090697"
"0000059935"	"0000090698"
"0000100502"	"0000162800"
"0000100516"	"0000162815"
"0000155343"	"0000355056"
"0000156336"	"0000358258"
"0000156339"	"0000358261"
"0000156339"	"0000358441"
"0000233393"	"0000476101"
"0000233394"	"0000476102"
"0000233395"	"0000476103"
"0000233396"	"0000476104"
"0000233397"	"0000476105"
"0000233398"	"0000476106"
"0000233399"	"0000476107"
"0000233400"	"0000476108"
"0000233401"	"0000476109"
"0000233402"	"0000476110"
"0000234738"	"0000477446"
"0000234739"	"0000477447"
"0000303811"	"0000667207"
"0000310311"	"0000685222"
"0000310312"	"0000685223"
"0000310313"	"0000685224"
"0000310314"	"0000685225"
"0000310871"	"0000686012"
"0000310903"	"0000686044"
"0000321619"	"0000704530"
"0000329540"	"0000713663"
"0000329548"	"0000713671"
"0000333203"	"0000730627"
"0000333413"	"0000731040"
"0000333416"	"0000730990"
"0000333445"	"0000731099"
"0000334575"	"0000732428"
"0000334575"	"0000732431"
"0000334585"	"0000732491"
"0000334591"	"0000732519"
"0000335054"	"0000733063"
"0000335055"	"0000733064"
"0000335056"	"0000733065"
"0000335057"	"0000733066"
"0000335057"	"0000733531"
"0000335058"	"0000733067"
"0000335058"	"0000733532"
"0000335059"	"0000733068"
"0000335128"	"0000733137"
"0000335128"	"0000733585"
"0000335129"	"0000733138"
"0000335129"	"0000733586"
"0000335130"	"0000733139"
"0000335130"	"0000733587"
"0000335700"	"0000734418"
"0000336199"	"0000735350"
"0000336343"	"0000735618"
"0000336343"	"0000735740"
"0000336344"	"0000735619"
"0000336344"	"0000735741"
"0000360210"	"0000759937"
"0000360214"	"0000760086"
"0000360360"	"0000760252"
"0000360360"	"0000760472"
"0000360385"	"0000760277"
"0000360409"	"0000760301"
"0000363446"	"0000764101"
"0000364812"	"0000765754"
"0000364881"	"0000765823"
"0000364888"	"0000765830"
"0000365097"	"0000766051"
"0000373875"	"0000784497"
"0000373879"	"0000784477"
"0000373965"	"0000784432"
"0000374612"	"0000785404"
"0000374612"	"0000785412"
"0000375162"	"0000786457"
"0000375162"	"0000786498"
"0000377962"	"0000790412"
"0000377962"	"0000790492"
"0000377970"	"0000790523"
"0000377987"	"0000790589"
"0000377991"	"0000790615"
"0000380773"	"0000793968"
"0000380773"	"0000793969"
"0000383099"	"0000797091"
"0000383521"	"0000797666"
"0000383521"	"0000797667"
"0000383522"	"0000797668"
"0000383531"	"0000797683"
"0000384874"	"0000811692"
"0000384875"	"0000811693"
"0000385188"	"0000812095"
"0000385195"	"0000812107"
"0000385195"	"0000812108"
"0000385275"	"0000812239"
"0000385279"	"0000812245"
"0000385291"	"0000812263"
"0000385309"	"0000812292"
"0000385354"	"0000812368"
"0000385851"	"0000813008"
"0000385853"	"0000813010"
"0000387500"	"0000815384"
"0000387933"	"0000816091"
"0000387933"	"0000816417"
"0000388277"	"0000816737"
"0000388277"	"0000816839"
"0000388278"	"0000816738"
"0000389792"	"0000819051"
"0000390117"	"0000819462"
"0000390767"	"0000820112"
"0000390872"	"0000820217"
"0000391155"	"0000820500"
"0000391176"	"0000820521"
"0000391178"	"0000820523"
"0000391207"	"0000820552"
"0000391207"	"0000820972"
"0000391503"	"0000821252"
"0000391504"	"0000821253"
"0000391975"	"0000822048"
"0000391976"	"0000822049"
"0000393574"	"0000824352"
"0000393574"	"0000824353"
"0000395040"	"0000826205"
"0000395845"	"0000827279"
"0000395846"	"0000827280"
"0000396658"	"0000828309"
"0000397443"	"0000829420"
"0000411449"	"0000868572"
"0000411450"	"0000868573"
"0000411451"	"0000868574"
"0000411452"	"0000868575"
"0000411453"	"0000868576"
"0000411454"	"0000868577"
"0000411455"	"0000868578"
"0000411457"	"0000868581"
"0000411457"	"0000868585"
"0000411458"	"0000868582"
"0000411458"	"0000868584"
"0000411459"	"0000868583"
"0000411459"	"0000868586"
"0000411460"	"0000868587"
"0000411461"	"0000868588"
"0000411462"	"0000868589"
"0000411463"	"0000868590"
"0000411464"	"0000868591"
"0000411476"	"0000868612"
"0000411477"	"0000868613"
"0000411478"	"0000868614"
"0000411495"	"0000868631"
"0000411496"	"0000868632"
"0000411497"	"0000868633"
"0000411498"	"0000868634"
"0000411499"	"0000868635"
"0000411500"	"0000868636"
"0000411501"	"0000868637"
"0000411502"	"0000868638"
"0000428256"	"0000905952"
"0000430938"	"0000915839"
"0000431100"	"0000916064"
"0000431100"	"0000916065"
"0000431171"	"0000916174"
"0000431178"	"0000916185"
"0000431259"	"0000916317"
"0000431321"	"0000916413"
"0000431321"	"0000916414"
"0000448839"	"0000958325"
"0000448842"	"0000958328"
"0000448842"	"0000958614"
"0000448888"	"0000958374"
"0000448905"	"0000958672"
"0000448905"	"0000959082"
"0000449282"	"0000959469"
"0000449292"	"0000959059"