### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CNGB1)
# 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}}"
"CNGB1"	"cyclic nucleotide gated channel beta 1"	"16"	"q13"	"unknown"	"NG_016351.1"	"UD_132118241026"	""	"https://www.LOVD.nl/CNGB1"	""	"1"	"2151"	"1258"	"600724"	"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"	"https://databases.lovd.nl/shared/refseq/CNGB1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-13 00:00:00"	"00006"	"2021-10-31 14:51:18"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00005382"	"CNGB1"	"transcript variant 1"	"001"	"NM_001297.4"	""	"NP_001288.3"	""	""	""	"-65"	"5580"	"3756"	"58005020"	"57916244"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02156"	"-"	"retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness"	""	"300455"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03426"	"RP45"	"retinitis pigmentosa, type 45 (RP45)"	"AR"	"613767"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-10-31 14:50:56"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05130"	"CSNB"	"blindness, night, stationary, congenital (CSNB)"	""	""	""	""	""	"00006"	"2016-02-03 23:24:36"	""	""
"05415"	"USH"	"Usher syndrome (USH)"	""	""	""	""	""	"00006"	"2018-04-02 16:40:44"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CNGB1"	"00112"
"CNGB1"	"03426"


## Individuals ## Do not remove or alter this header ##
## Count = 406
"{{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}}"
"00078540"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00078541"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00078579"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00078581"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00078727"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00078728"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00078729"	""	""	""	"1"	""	"01697"	""	""	""	""	""	""	"0"	""	""	""	""
"00079003"	""	""	""	"3"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents"	"F;M"	"yes"	"France"	""	"0"	""	""	""	"Fam"
"00079005"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"patients and controls"	""	""	"France"	""	"0"	""	""	""	""
"00079007"	""	""	""	"1"	""	"00006"	"{PMID:Kondo 2004:15557452}"	""	"M"	""	"Japan"	">67y"	"0"	""	""	""	"Pat02201"
"00079009"	""	""	""	"1"	""	"00006"	"{PMID:Fu 2013:23661369}, {DOI:Fu 2013:10.1167/iovs.13-11672}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"China"	">40y"	"0"	""	""	""	"Fam4294PatII1"
"00079011"	""	""	""	"1"	""	"00006"	"{PMID:Simpson 2011:21147909}, {DOI:Simpson 2011:10.1136/jmg.2010.083568}"	"7-generation family, 1 affected, unaffected heterozygous carrier parents/sibs/child"	"M"	"yes"	"Ireland"	""	"0"	""	""	""	""
"00079012"	""	""	""	"4"	""	"00006"	"{PMID:Bocquet 2013:24339724}"	"2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents"	"F;M"	"yes"	"France"	""	"0"	""	""	""	"RP1324"
"00079013"	""	""	""	"9"	""	"00006"	"{PMID:Maria 2015:25775262}, {DOI:Maria 2015:10.1371/journal.pone.0119806}"	"5-generation family, 9 affected (4F, 5M), unaffected heterozygous carrier parents"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam09"
"00079014"	""	""	""	"2"	""	"00006"	"{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}"	"4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamMA97"
"00079015"	""	""	""	"11"	""	"00006"	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}"	"6-generation family, 11 affecteds (4F, 7M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"PKRD142;61142"
"00095949"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61042"
"00104999"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2016:28005958}"	""	"F"	"yes"	"Argentina"	""	"0"	""	""	""	"80ORG1"
"00143966"	""	""	""	"1"	""	"01780"	"{PMID:Xu 2014:24938718}"	""	"M"	"yes"	"China"	""	"0"	""	""	"Chinese"	""
"00144157"	""	""	""	"1"	""	"01780"	"{PMID:Katagiri 2014:25268133}"	"index patient"	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00144271"	""	""	""	"1"	""	"01780"	"{PMID:Xu 2014:24938718}"	"onset early childhood"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00147117"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00155439"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"F"	"no"	"Israel"	""	"0"	""	""	"white;Jewish"	"MOL0087"
"00233375"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233376"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233377"	""	""	""	"7"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233378"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233379"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233380"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233381"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233382"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233383"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233384"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233385"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233386"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233387"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233388"	""	""	""	"9"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233389"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233390"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233391"	""	""	""	"107"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233392"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233393"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233394"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233395"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233396"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233397"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233398"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233399"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233400"	""	""	""	"29"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233401"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233402"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233403"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233404"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233405"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233406"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1189  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233407"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1185  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233408"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233409"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233410"	""	""	""	"41"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233411"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233412"	""	""	""	"22"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233413"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233414"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233415"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233416"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233417"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233418"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233419"	""	""	""	"294"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233420"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233421"	""	""	""	"5"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233422"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233423"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233424"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233425"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233791"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233792"	""	""	""	"21"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1185  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233793"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233794"	""	""	""	"875"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233795"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00291509"	""	""	""	"10"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291510"	""	""	""	"183"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291511"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291512"	""	""	""	"9"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291513"	""	""	""	"46"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291514"	""	""	""	"193"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291515"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291516"	""	""	""	"12"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291517"	""	""	""	"39"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304526"	""	""	""	"9"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304527"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304528"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304529"	""	""	""	"7"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309089"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309090"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309091"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309092"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	"Jewish-Bukharian"	"MOL0990"
"00309093"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309721"	""	""	""	"1"	""	"00006"	"{PMID:Beryozkin 2015:26306921}, {PMID:Kimchi 2018:29276052}"	"family"	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"CHRD"
"00324339"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00325518"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"single patient"	""	""	"Mexico"	""	"0"	""	""	""	"EC01"
"00325519"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"EC02"
"00327929"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240049"
"00327938"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240068"
"00327957"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240224"
"00327962"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240269"
"00327966"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240275"
"00327983"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001016"
"00328093"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005183"
"00328144"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G005545"
"00328261"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G009837"
"00331277"	""	""	""	"1"	""	"00000"	"{PMID:Maeda 2018:29785639}"	"family"	"M"	""	"Japan"	""	"0"	""	""	""	"Pat31"
"00332510"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2018:29068140}"	""	""	""	"Finland"	""	"0"	""	""	""	"Pat35"
"00332548"	""	""	""	"1"	""	"00006"	"{PMID:Comander 2017:28981474}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat40"
"00333359"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat10"
"00333360"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat14"
"00333428"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD6–06"
"00333815"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"11"
"00333816"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"12"
"00334462"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2016:27874104}"	"family"	""	""	"Tunisia"	""	"0"	""	""	""	"F2"
"00335105"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"4308"
"00335481"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD039"
"00335482"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD052"
"00335483"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD068"
"00335484"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD085"
"00335967"	""	""	""	"4"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00335968"	""	""	""	"1"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00358965"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case13730"
"00359121"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12012050"
"00359127"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"10003544"
"00359175"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13012959"
"00359217"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13000500"
"00362186"	""	""	""	"1"	""	"00000"	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-1998"
"00362195"	""	""	""	"1"	""	"00000"	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-1874"
"00362234"	""	""	""	"1"	""	"04043"	"Fadaie 2021, submitted"	""	""	"no"	"Netherlands"	""	"0"	""	""	""	"?"
"00363452"	""	""	""	"1"	""	"00000"	"{PMID:Ge 2015:26667666}"	"simplex case"	""	""	"United States"	""	"0"	""	""	""	"8G+Y.78"
"00363453"	""	""	""	"1"	""	"00000"	"{PMID:Ge 2015:26667666}"	"simplex case"	""	""	"United States"	""	"0"	""	""	""	"3XC+7.8"
"00363679"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0141"
"00363682"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0391"
"00363703"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG1256"
"00363715"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG2309"
"00363856"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363857"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363858"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363859"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363860"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363861"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363862"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363863"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363864"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00372625"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP221"
"00372629"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP042"
"00372636"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP335"
"00372640"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP316"
"00372641"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP021"
"00372642"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP215"
"00372646"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP339"
"00372650"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP245"
"00372652"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP331"
"00372657"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP202"
"00372664"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP307"
"00372674"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP101"
"00372690"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP190"
"00372702"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"QT367"
"00372716"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP255"
"00372720"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP277"
"00372748"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP369"
"00372751"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP388"
"00372752"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP401"
"00373355"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373826"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2015:25472526}"	"simplex case"	""	""	"Northern Ireland"	""	"0"	""	""	""	"Rp167"
"00373937"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-276-589"
"00374906"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	"yes"	"China"	""	"0"	""	""	""	"W214-1"
"00375296"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6048"
"00375297"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6254"
"00375419"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#011"
"00375435"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#030"
"00376765"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"27"
"00376768"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"30"
"00376772"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"36"
"00376793"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"60"
"00377526"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE103"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE103"
"00379535"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SH_0058"
"00379935"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0174"
"00380288"	""	""	""	"3"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	"Atypical inheritance for RDH12 in RP"	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00380373"	""	""	""	"1"	""	"00000"	"{PMID:Bocquet-2013:23350551}"	""	""	"yes"	"France"	""	"0"	""	""	""	""
"00380904"	""	""	""	"1"	""	"00000"	"{PMID:Perez-Carro 2018:29912909}"	"family RP-1914"	"M"	"no"	"Spain"	""	"0"	""	""	""	"RP-1914"
"00381005"	""	""	""	"1"	""	"00000"	"{PMID:Schorderet-2013:23484092}"	""	""	""	"Switzerland"	""	"0"	""	""	"Swiss, Algerian or Tunisian"	""
"00381156"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi-2013:24043777}"	""	"F"	"no"	""	""	"0"	""	""	"Hispanic"	""
"00381675"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00381691"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381882"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"32"
"00382253"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"82"
"00382254"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"83"
"00382255"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"84"
"00382256"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"85"
"00382257"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"86"
"00382258"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"87"
"00382265"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"94"
"00382522"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"384"
"00382523"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"385"
"00382524"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"386"
"00382525"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"387"
"00382526"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"388"
"00382527"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"389"
"00382595"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"457"
"00382787"	""	""	""	"1"	""	"00000"	"{PMID:Azam-2011:21987686}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	"pakistani"	""
"00382792"	""	""	""	"1"	""	"00000"	"{PMID:Azam-2011:21987686}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	"pakistani"	""
"00382797"	""	""	""	"1"	""	"00000"	"{PMID:Song-2011:22025579}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383801"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18184122_B"
"00383916"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0311"
"00383930"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0591"
"00383941"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0750"
"00383942"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0790"
"00383947"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0862"
"00383978"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1300"
"00383979"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1311"
"00384024"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1734"
"00384070"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2099"
"00384074"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2115"
"00384124"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2445"
"00384125"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2457"
"00384146"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2669"
"00385403"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31872526}"	""	"F"	""	"Taiwan"	""	"0"	""	""	""	"F14-I-1"
"00385714"	""	""	""	"1"	""	"00000"	"{PMID:Dan 2020:31960602}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"64"
"00386166"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-110, family member"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-256"
"00386241"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-452"
"00386255"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-536"
"00386631"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-132"
"00386676"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-727"
"00386717"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2851_004436"
"00386809"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2967_004552"
"00386926"	""	""	""	"2"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	""	"FamG"
"00386927"	""	""	""	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	""	"F"	""	"United States"	""	"0"	""	""	""	"FamH"
"00387033"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"59"
"00387034"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"60"
"00387035"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"61"
"00387036"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"62"
"00387914"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat1"
"00387915"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat2"
"00387916"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat3"
"00387917"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat4"
"00387918"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat5"
"00387919"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat6"
"00387920"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat7"
"00387921"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat8"
"00387922"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat9"
"00387923"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat10"
"00387924"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat11"
"00387925"	""	""	""	"1"	""	"00006"	"{PMID:Ba-Abbad 2019:30976726}, {PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat;Pat12"
"00387926"	""	""	""	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat13"
"00387927"	""	""	""	"2"	""	"00006"	"{PMID:Afshar 2020:31570810}"	"family, 2 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat14"
"00387928"	""	""	"00387927"	"1"	""	"00006"	"{PMID:Afshar 2020:31570810}"	"brother"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat15"
"00387935"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387936"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387937"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387938"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387939"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387940"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387941"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387942"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387943"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387944"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387945"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387946"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387947"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387948"	""	""	""	"1"	""	"00006"	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"controls and patients"	""	""	"France"	""	"0"	""	""	""	""
"00387951"	""	""	""	"1"	""	"00006"	"{PMID:Fradin 2016:26901671}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"France"	""	"0"	""	""	""	"family"
"00387953"	""	""	""	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"3-generation family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC2533Pat1"
"00387954"	""	""	""	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC20388Pat2"
"00387955"	""	""	""	"2"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 2 affected sisters"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC19136Pat3"
"00387956"	""	""	""	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC19695Pat4"
"00387957"	""	""	""	"3"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 3 affected sbs (2F, M)"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC635Pat5"
"00387958"	""	""	"00387957"	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"brother"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC635Pat6"
"00387959"	""	""	""	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC20934Pat7"
"00387960"	""	""	""	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC21053Pat8"
"00387961"	""	""	""	"3"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 3 affected sbs (2F, M)"	"F;M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat9"
"00387962"	""	""	""	"1"	""	"00006"	"{PMID:Hull 2017:28056120}"	"2-generation family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamGC17300Pat10"
"00387963"	""	""	""	"1"	""	"00006"	"{PMID:Banerjee 2017:29179439}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"family"
"00387964"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat1"
"00387965"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00387966"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00387967"	""	""	""	"2"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat4"
"00387968"	""	""	"00387967"	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	"sister"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat5"
"00387969"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat6"
"00387970"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat7"
"00387971"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Pat8"
"00387972"	""	""	""	"1"	""	"00006"	"{PMID:Charbel Issa 2018:29800053}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat9"
"00387973"	""	""	""	"2"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	""	"M"	""	"United States"	""	"0"	""	""	""	"FamAPat1"
"00387974"	""	""	"00387973"	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	""	"F"	""	"United States"	""	"0"	""	""	""	"FamAPat2"
"00387975"	""	""	""	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat3"
"00387976"	""	""	""	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat4"
"00387977"	""	""	""	"2"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	"sister"	"M"	""	"United States"	""	"0"	""	""	""	"FamBPat5"
"00387978"	""	""	"00387977"	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	""	"M"	""	"United States"	""	"0"	""	""	""	"FamBPat6"
"00387979"	""	""	""	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat7"
"00387980"	""	""	""	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat8"
"00387982"	""	""	""	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	""	"M"	""	"United States"	""	"0"	""	""	""	"FamAPat1"
"00387983"	""	""	""	"3"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"2-generation family, 3 sibs (F, 2M)"	"M"	""	"United States"	""	"0"	""	""	""	"FamBPat1"
"00387984"	""	""	"00387983"	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"brother"	"F"	""	"United States"	""	"0"	""	""	""	"FamBPat3"
"00387985"	""	""	"00387983"	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"sister"	"M"	""	"United States"	""	"0"	""	""	""	"FamBPat2"
"00387986"	""	""	""	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	""	"M"	""	"United States"	""	"0"	""	""	""	"FamCPat1"
"00387987"	""	""	""	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	""	"M"	""	"United States"	""	"0"	""	""	""	"FamDPat1"
"00387988"	""	""	""	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	""	"F"	""	"United States"	""	"0"	""	""	""	"FamEPat1"
"00387989"	""	""	""	"2"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"2-generation family, 2 affected sisters"	"F"	""	"United States"	""	"0"	""	""	""	"FamFPat1"
"00387990"	""	""	""	"2"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"2-generation family, 2 affected sisters"	"F"	""	"United States"	""	"0"	""	""	""	"FamGPat1"
"00387991"	""	""	"00387990"	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	"sister"	"F"	""	"United States"	""	"0"	""	""	""	"FamGPat2"
"00387992"	""	""	""	"1"	""	"00006"	"{PMID:Radojevic 2021:33465333}"	""	"F"	""	"United States"	""	"0"	""	""	""	"FamHPat1"
"00387993"	""	""	""	"1"	""	"00006"	"{PMID:Xiang 2018:30451805}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"China"	""	"0"	""	""	""	"FamPatIV1"
"00387994"	""	""	""	"1"	""	"00006"	"{PMID:Petersen-Jones 2018:29202463}"	"Cngb1-/- dogs"	""	""	""	""	"0"	""	""	""	"Cngb1-/- dog"
"00388199"	""	""	""	"2"	""	"00006"	"{PMID:Lingao 2016:26894784}"	"2-generation family, 2 affected brothers"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00388200"	""	""	"00388199"	"1"	""	"00006"	"{PMID:Lingao 2016:26894784}"	""	"M"	""	""	""	"0"	""	""	""	"Pat13"
"00388201"	""	""	""	"4"	""	"00006"	"{PMID:Alshamrani 2020:32613137}"	"2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents"	"F;M"	""	"Saudi Arabia;Syria"	""	"0"	""	""	""	"family"
"00388202"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F5240 CIC09166"
"00388203"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"OPH2286"
"00388204"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"SRP541"
"00388205"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"ARRP278"
"00388206"	""	""	""	"2"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	"2-generation family, 2 affected sibs"	""	""	""	""	"0"	""	""	"Asia"	"TW8999826"
"00388207"	""	""	"00388206"	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	"sib"	""	""	""	""	"0"	""	""	"Asia"	"TW20024045"
"00388208"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"SRP995"
"00388209"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Hispanic;white"	"MRN:6822243"
"00388210"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Africa-N"	"OPH3784"
"00388211"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Asia-W"	"ARRP400"
"00388212"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Africa-N"	"F4300"
"00388213"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	""	"SRP266"
"00388214"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Asia-W"	"ARRP349"
"00388215"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F141 CC00189"
"00388216"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"MEH28189"
"00388217"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F1107 CIC01530"
"00388218"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Africa-N"	"F3791 CIC06919"
"00388219"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Asia-W"	"ARRP386"
"00388220"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Asia-W"	"ARRP398"
"00388221"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"OPH1710"
"00388222"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"MRN:8759303"
"00388223"	""	""	""	"2"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	"2-generation family, 2 affected sibs"	""	""	""	""	"0"	""	""	"Europe"	"F463 CIC00691"
"00388224"	""	""	"00388223"	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	"sib"	""	""	""	""	"0"	""	""	"Europe"	"F463 CIC02695"
"00388225"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F2070 CIC04317"
"00388226"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Africa-N"	"F5462 CIC09504"
"00388227"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F4053 CIC07355"
"00388228"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F5830 CIC10130"
"00388229"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Asia-W"	"ARRP396"
"00388230"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Africa-N"	"F3038 CIC05823"
"00388231"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	""	"MRN:1203567687"
"00388232"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	""	"MEH16550"
"00388233"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	"Europe"	"F4517 CIC08096"
"00388234"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	""	"SRP480"
"00388235"	""	""	""	"1"	""	"00006"	"{PMID:Nassisi 2021:33847019}"	""	""	""	""	""	"0"	""	""	""	"SRP629"
"00388490"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"14010419"
"00388491"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"12014502"
"00388544"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.005"
"00388552"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.013"
"00388553"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.014"
"00389079"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 122, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"363"
"00389427"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 266, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"711"
"00389563"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 349, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"847"
"00389624"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 386, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"908"
"00389642"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 396, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"926"
"00389645"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 398, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"929"
"00389770"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 652, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1054"
"00389842"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 769, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1126"
"00389952"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 995, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1236"
"00390225"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001016"
"00390226"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G005183"
"00390227"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G005545"
"00390228"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G009837"
"00390736"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F19, patient IV.2"	"F"	""	"Tunisia"	""	"0"	""	""	""	"F19_IV.2"
"00390961"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00391357"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"13"
"00393694"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393995"	""	""	""	"1"	""	"00000"	"{PMID:Fuster-Garcia-2019:31725169}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00393996"	""	""	""	"1"	""	"00000"	"{PMID:Fuster-Garcia-2019:31725169}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00394553"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394554"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394555"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394556"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394557"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394558"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394559"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00395873"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F232"
"00400084"	""	""	""	"1"	""	"00000"	"{PMID:Ng 2019:30948794}"	"proband; pedigree patient numbers differ from table numbers"	"F"	""	"China"	""	"0"	""	""	""	"F4-II:9"
"00420537"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F232"
"00426937"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 41, individual 49"	"M"	""	""	""	"0"	""	""	""	"41_49"
"00429488"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429652"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429689"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429698"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429712"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429724"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429744"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429790"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429798"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429830"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429876"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429893"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429920"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430029"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430145"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00434061"	""	""	""	"1"	""	"01985"	""	"in submission"	""	""	"Germany"	""	"0"	""	""	""	""
"00436436"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"M"	"likely"	"Mexico"	""	""	""	"none"	"Hispanic"	"3888727"
"00436439"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"likely"	"Mexico"	""	""	""	"none"	"Hispanic"	"4271149"
"00436457"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"no"	"Mexico"	""	""	""	"none"	"Hispanic"	"2844475"
"00444224"	""	""	""	"1"	""	"00006"	"{PMID:Kim 2021:34064005}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat1"
"00447007"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-469"
"00447445"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"USHII-369"
"00447600"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1023"
"00447689"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SCHI-87"
"00451573"	""	""	""	"2"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"4-generation family, 2 affected brothers"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamMPatIV1"
"00451574"	""	""	"00451573"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"brother"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamMPatIV3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 406
"{{individualid}}"	"{{diseaseid}}"
"00078540"	"04214"
"00078541"	"04214"
"00078579"	"04214"
"00078581"	"04214"
"00078727"	"04214"
"00078728"	"04214"
"00078729"	"04214"
"00079003"	"04214"
"00079005"	"00000"
"00079007"	"04214"
"00079009"	"04214"
"00079011"	"04214"
"00079012"	"04214"
"00079013"	"04214"
"00079014"	"04214"
"00079015"	"04214"
"00095949"	"04214"
"00104999"	"04214"
"00143966"	"04214"
"00144157"	"04214"
"00144271"	"04214"
"00147117"	"00198"
"00155439"	"04214"
"00233375"	"04214"
"00233376"	"04214"
"00233377"	"04214"
"00233378"	"04214"
"00233379"	"04214"
"00233380"	"04214"
"00233381"	"04214"
"00233382"	"04214"
"00233383"	"04214"
"00233384"	"04214"
"00233385"	"04214"
"00233386"	"04214"
"00233387"	"04214"
"00233388"	"04214"
"00233389"	"04214"
"00233390"	"04214"
"00233391"	"04214"
"00233392"	"04214"
"00233393"	"04214"
"00233394"	"04214"
"00233395"	"04214"
"00233396"	"04214"
"00233397"	"04214"
"00233398"	"04214"
"00233399"	"04214"
"00233400"	"04214"
"00233401"	"04214"
"00233402"	"04214"
"00233403"	"04214"
"00233404"	"04214"
"00233405"	"04214"
"00233406"	"04214"
"00233407"	"04214"
"00233408"	"04214"
"00233409"	"04214"
"00233410"	"04214"
"00233411"	"04214"
"00233412"	"04214"
"00233413"	"04214"
"00233414"	"04214"
"00233415"	"04214"
"00233416"	"04214"
"00233417"	"04214"
"00233418"	"04214"
"00233419"	"04214"
"00233420"	"04214"
"00233421"	"04214"
"00233422"	"04214"
"00233423"	"04214"
"00233424"	"04214"
"00233425"	"04214"
"00233791"	"04214"
"00233792"	"04214"
"00233793"	"04214"
"00233794"	"04214"
"00233795"	"04214"
"00291509"	"00198"
"00291510"	"00198"
"00291511"	"00198"
"00291512"	"00198"
"00291513"	"00198"
"00291514"	"00198"
"00291515"	"00198"
"00291516"	"00198"
"00291517"	"00198"
"00304526"	"00198"
"00304527"	"00198"
"00304528"	"00198"
"00304529"	"00198"
"00309089"	"04214"
"00309090"	"04214"
"00309091"	"04214"
"00309092"	"04214"
"00309093"	"04214"
"00309721"	"04214"
"00324339"	"00198"
"00325518"	"04214"
"00325519"	"04214"
"00327929"	"04214"
"00327938"	"04214"
"00327957"	"04214"
"00327962"	"04214"
"00327966"	"04214"
"00327983"	"04214"
"00328093"	"04214"
"00328144"	"04214"
"00328261"	"04214"
"00331277"	"04214"
"00332510"	"04214"
"00332548"	"04214"
"00333359"	"04214"
"00333360"	"04214"
"00333428"	"04214"
"00333815"	"04214"
"00333816"	"04214"
"00334462"	"04214"
"00335105"	"00198"
"00335481"	"04214"
"00335482"	"04214"
"00335483"	"04214"
"00335484"	"04214"
"00335967"	"04214"
"00335968"	"04214"
"00358965"	"04214"
"00359121"	"04214"
"00359127"	"04214"
"00359175"	"04214"
"00359217"	"04214"
"00362186"	"04214"
"00362195"	"04214"
"00362234"	"04214"
"00363452"	"04214"
"00363453"	"04214"
"00363679"	"04214"
"00363682"	"04214"
"00363703"	"04214"
"00363715"	"04214"
"00363856"	"04214"
"00363857"	"04214"
"00363858"	"04214"
"00363859"	"04214"
"00363860"	"04214"
"00363861"	"04214"
"00363862"	"04214"
"00363863"	"04214"
"00363864"	"04214"
"00372625"	"04214"
"00372629"	"04214"
"00372636"	"04214"
"00372640"	"04214"
"00372641"	"04214"
"00372642"	"04214"
"00372646"	"04214"
"00372650"	"04214"
"00372652"	"04214"
"00372657"	"04214"
"00372664"	"04214"
"00372674"	"04214"
"00372690"	"04214"
"00372702"	"04214"
"00372716"	"04214"
"00372720"	"04214"
"00372748"	"04214"
"00372751"	"04214"
"00372752"	"04214"
"00373355"	"04214"
"00373826"	"04214"
"00373937"	"04214"
"00374906"	"04214"
"00375296"	"04214"
"00375297"	"04214"
"00375419"	"04214"
"00375435"	"04214"
"00376765"	"04214"
"00376768"	"04214"
"00376772"	"04214"
"00376793"	"04214"
"00377526"	"04214"
"00379535"	"00112"
"00379935"	"00112"
"00380288"	"04214"
"00380373"	"04214"
"00380904"	"04214"
"00381005"	"04214"
"00381156"	"04214"
"00381675"	"04214"
"00381691"	"04214"
"00381882"	"04214"
"00382253"	"04214"
"00382254"	"04214"
"00382255"	"04214"
"00382256"	"04214"
"00382257"	"04214"
"00382258"	"04214"
"00382265"	"04214"
"00382522"	"04214"
"00382523"	"04214"
"00382524"	"04214"
"00382525"	"04214"
"00382526"	"04214"
"00382527"	"04214"
"00382595"	"04214"
"00382787"	"04214"
"00382792"	"04214"
"00382797"	"04214"
"00383801"	"04214"
"00383916"	"04214"
"00383930"	"04214"
"00383941"	"04214"
"00383942"	"04214"
"00383947"	"04214"
"00383978"	"04214"
"00383979"	"04214"
"00384024"	"04214"
"00384070"	"04214"
"00384074"	"04214"
"00384124"	"04214"
"00384125"	"04214"
"00384146"	"04214"
"00385403"	"04214"
"00385714"	"04214"
"00386166"	"04214"
"00386241"	"04214"
"00386255"	"04214"
"00386631"	"04214"
"00386676"	"04214"
"00386717"	"04214"
"00386809"	"04214"
"00386926"	"04214"
"00386927"	"04214"
"00387033"	"04214"
"00387034"	"04214"
"00387035"	"04214"
"00387036"	"04214"
"00387914"	"04214"
"00387915"	"04214"
"00387916"	"04214"
"00387917"	"04214"
"00387918"	"04214"
"00387919"	"04214"
"00387920"	"04214"
"00387921"	"04214"
"00387922"	"04214"
"00387923"	"04214"
"00387924"	"04214"
"00387925"	"04214"
"00387926"	"04214"
"00387927"	"04214"
"00387928"	"04214"
"00387935"	"00112"
"00387936"	"00112"
"00387937"	"00112"
"00387938"	"00112"
"00387939"	"00112"
"00387940"	"00112"
"00387941"	"00112"
"00387942"	"00112"
"00387943"	"00112"
"00387944"	"00112"
"00387945"	"00112"
"00387946"	"00112"
"00387947"	"00112"
"00387948"	"00112"
"00387951"	"04214"
"00387953"	"04214"
"00387954"	"04214"
"00387955"	"04214"
"00387956"	"04214"
"00387957"	"04214"
"00387958"	"04214"
"00387959"	"04214"
"00387960"	"04214"
"00387961"	"04214"
"00387962"	"04214"
"00387963"	"04214"
"00387964"	"04214"
"00387965"	"04214"
"00387966"	"04214"
"00387967"	"04214"
"00387968"	"04214"
"00387969"	"04214"
"00387970"	"04214"
"00387971"	"04214"
"00387972"	"04214"
"00387973"	"04214"
"00387974"	"04214"
"00387975"	"04214"
"00387976"	"04214"
"00387977"	"04214"
"00387978"	"04214"
"00387979"	"04214"
"00387980"	"04214"
"00387982"	"04214"
"00387983"	"04214"
"00387984"	"04214"
"00387985"	"04214"
"00387986"	"04214"
"00387987"	"04214"
"00387988"	"04214"
"00387989"	"04214"
"00387990"	"04214"
"00387991"	"04214"
"00387992"	"04214"
"00387993"	"04214"
"00387994"	"04214"
"00388199"	"04214"
"00388200"	"04214"
"00388201"	"04214"
"00388202"	"04214"
"00388203"	"04214"
"00388204"	"04214"
"00388205"	"04214"
"00388206"	"04214"
"00388207"	"04214"
"00388208"	"04214"
"00388209"	"04214"
"00388210"	"04214"
"00388211"	"04214"
"00388212"	"04214"
"00388213"	"04214"
"00388214"	"04214"
"00388215"	"04214"
"00388216"	"04214"
"00388217"	"04214"
"00388218"	"04214"
"00388219"	"04214"
"00388220"	"04214"
"00388221"	"04214"
"00388222"	"04214"
"00388223"	"04214"
"00388224"	"04214"
"00388225"	"04214"
"00388226"	"04214"
"00388227"	"04214"
"00388228"	"04214"
"00388229"	"04214"
"00388230"	"04214"
"00388231"	"04214"
"00388232"	"04214"
"00388233"	"04214"
"00388234"	"04214"
"00388235"	"04214"
"00388490"	"04214"
"00388491"	"04214"
"00388544"	"04214"
"00388552"	"04214"
"00388553"	"04214"
"00389079"	"04214"
"00389427"	"04214"
"00389563"	"04214"
"00389624"	"04214"
"00389642"	"04214"
"00389645"	"04214"
"00389770"	"04214"
"00389842"	"04214"
"00389952"	"04214"
"00390225"	"04214"
"00390226"	"04214"
"00390227"	"04214"
"00390228"	"04214"
"00390736"	"04214"
"00390961"	"04214"
"00391357"	"04214"
"00393694"	"04214"
"00393995"	"04214"
"00393996"	"04214"
"00394553"	"04214"
"00394554"	"04214"
"00394555"	"04214"
"00394556"	"04214"
"00394557"	"04214"
"00394558"	"04214"
"00394559"	"04214"
"00395873"	"04214"
"00400084"	"05415"
"00420537"	"04214"
"00426937"	"04214"
"00429488"	"00112"
"00429652"	"00112"
"00429689"	"00112"
"00429698"	"00112"
"00429712"	"00112"
"00429724"	"00112"
"00429744"	"00112"
"00429790"	"00112"
"00429798"	"00112"
"00429830"	"00112"
"00429876"	"00112"
"00429893"	"00112"
"00429920"	"00112"
"00430029"	"00112"
"00430145"	"00112"
"00434061"	"00198"
"00436436"	"02156"
"00436439"	"02156"
"00436457"	"00112"
"00444224"	"05130"
"00447007"	"00198"
"00447445"	"00198"
"00447600"	"00198"
"00447689"	"00198"
"00451573"	"00198"
"00451574"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 02156, 03426, 04214, 05130, 05415
## Count = 287
"{{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}}"
"0000058317"	"04214"	"00078540"	"01697"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058318"	"04214"	"00078541"	"01697"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058348"	"04214"	"00078579"	"01697"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058349"	"04214"	"00078581"	"01697"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058484"	"04214"	"00078727"	"01697"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058485"	"04214"	"00078729"	"01697"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058486"	"04214"	"00078728"	"01697"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058759"	"04214"	"00079003"	"00006"	"Familial, autosomal recessive"	""	"see paper; severe autosomal recessive RP, ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058762"	"04214"	"00079007"	"00006"	"Familial, autosomal recessive"	"67y"	"see paper; night blindness at school age; 30y-diagnosed with RP (visual field\r\ndefects), ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058764"	"04214"	"00079009"	"00006"	"Familial, autosomal recessive"	"40y"	"BCVA (decimal Snellen); right eye 0.1/left eye light perception"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058765"	"04214"	"00079011"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058766"	"04214"	"00079012"	"00006"	"Familial, autosomal recessive"	""	"severe RP"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058767"	"04214"	"00079013"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058768"	"04214"	"00079014"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000058769"	"04214"	"00079015"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., progressive"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000074226"	"04214"	"00095949"	"01769"	"Familial, autosomal recessive"	""	"Progressive RP"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000082890"	"04214"	"00104999"	"01244"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000116744"	"04214"	"00143966"	"01780"	"Familial, autosomal recessive"	""	"Age examination 30: first symptom: poor vision, night blindness; visual acuity OD/OS: 0,3/0,4, fundus exam.: attenuated retinal arteries, pigment deposit, no foveal reflex"	"13y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000116935"	"04214"	"00144157"	"01780"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000117049"	"04214"	"00144271"	"01780"	"Isolated (sporadic)"	""	"first symptom: poor vision, visual acuity OD/OS: 0,2/0,2, fundus exam.: attenuated retinal arteries, pigment bone spicule-like;"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000119833"	"00198"	"00147117"	"01807"	"Unknown"	""	"HP:0000510 (Rod-cone dystrophy)"	""	""	""	""	""	""	""	""	""	""	""
"0000127939"	"04214"	"00155439"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234409"	"04214"	"00309089"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234410"	"04214"	"00309090"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234411"	"04214"	"00309091"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234412"	"04214"	"00309092"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234413"	"04214"	"00309093"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235034"	"04214"	"00309721"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000242882"	"00198"	"00324339"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	""	""
"0000244005"	"04214"	"00325518"	"00006"	"Unknown"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000244006"	"04214"	"00325519"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246156"	"04214"	"00327929"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246165"	"04214"	"00327938"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246184"	"04214"	"00327957"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246189"	"04214"	"00327962"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246193"	"04214"	"00327966"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246210"	"04214"	"00327983"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246320"	"04214"	"00328093"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246371"	"04214"	"00328144"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246488"	"04214"	"00328261"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000249471"	"04214"	"00331277"	"00000"	"Familial, autosomal recessive"	"68y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250694"	"04214"	"00332510"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250736"	"04214"	"00332548"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"pericentral retinitis pigmentosa"	""
"0000251546"	"04214"	"00333359"	"00000"	"Familial, autosomal dominant"	"37y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251547"	"04214"	"00333360"	"00000"	"Familial, autosomal dominant"	"54y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251615"	"04214"	"00333428"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000252000"	"04214"	"00333815"	"00000"	"Familial, autosomal recessive"	"32y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252001"	"04214"	"00333816"	"00000"	"Familial, autosomal recessive"	"34y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252551"	"04214"	"00334462"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252820"	"00198"	"00335105"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253426"	"04214"	"00335481"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253427"	"04214"	"00335482"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253428"	"04214"	"00335483"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253429"	"04214"	"00335484"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253882"	"04214"	"00335967"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000253883"	"04214"	"00335968"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000254263"	"04214"	"00358965"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254418"	"04214"	"00359121"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254424"	"04214"	"00359127"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254472"	"04214"	"00359175"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254514"	"04214"	"00359217"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000257600"	"04214"	"00362186"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000257609"	"04214"	"00362195"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000257648"	"04214"	"00362234"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000258813"	"04214"	"00363452"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258814"	"04214"	"00363453"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259029"	"04214"	"00363679"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000259032"	"04214"	"00363682"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259053"	"04214"	"00363703"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259065"	"04214"	"00363715"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259195"	"04214"	"00363856"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259196"	"04214"	"00363857"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259197"	"04214"	"00363858"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259198"	"04214"	"00363859"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259199"	"04214"	"00363860"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259200"	"04214"	"00363861"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259201"	"04214"	"00363862"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259202"	"04214"	"00363863"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259203"	"04214"	"00363864"	"01243"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267904"	"04214"	"00372625"	"00000"	"Familial, autosomal dominant"	"33y"	"see paper; ..."	"31y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267908"	"04214"	"00372629"	"00000"	"Familial, autosomal dominant"	"26y"	"see paper; ..."	"9y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267915"	"04214"	"00372636"	"00000"	"Familial, autosomal dominant"	"33y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267919"	"04214"	"00372640"	"00000"	"Isolated (sporadic)"	"19y"	"see paper; ..."	"11y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267920"	"04214"	"00372641"	"00000"	"Familial, autosomal dominant"	"39y"	"see paper; ..."	"20y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267921"	"04214"	"00372642"	"00000"	"Familial, autosomal dominant"	"41y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267925"	"04214"	"00372646"	"00000"	"Familial, autosomal dominant"	"22y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267929"	"04214"	"00372650"	"00000"	"Familial, autosomal dominant"	"60y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267931"	"04214"	"00372652"	"00000"	"Familial, autosomal recessive"	"43y"	"see paper; ..."	"33y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267936"	"04214"	"00372657"	"00000"	"Familial, autosomal recessive"	"35y"	"see paper; ..."	"22y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267943"	"04214"	"00372664"	"00000"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267953"	"04214"	"00372674"	"00000"	"Familial, autosomal recessive"	"34y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267969"	"04214"	"00372690"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267981"	"04214"	"00372702"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267995"	"04214"	"00372716"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267999"	"04214"	"00372720"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268027"	"04214"	"00372748"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268030"	"04214"	"00372751"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268031"	"04214"	"00372752"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268631"	"04214"	"00373355"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269035"	"04214"	"00373826"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269146"	"04214"	"00373937"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270116"	"04214"	"00374906"	"00000"	"Isolated (sporadic)"	"49y"	"best corrected visual acuity fingers count/fingers count"	"35y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270510"	"04214"	"00375296"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270511"	"04214"	"00375297"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270633"	"04214"	"00375419"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270649"	"04214"	"00375435"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271976"	"04214"	"00376765"	"00000"	"Familial, autosomal recessive"	"39y"	""	""	""	""	""	""	""	""	""	""	"Nyctalopia, decreased peripheral vision, history of plaquenil"	""
"0000271979"	"04214"	"00376768"	"00000"	"Familial, autosomal recessive"	"37y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271983"	"04214"	"00376772"	"00000"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272004"	"04214"	"00376793"	"00000"	"Unknown"	"7y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272676"	"04214"	"00377526"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000273408"	"00112"	"00379535"	"03508"	"Familial, autosomal recessive"	""	"HP:0000613, HP:0001133, HP:0000551, HP:0003745, HP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273790"	"00112"	"00379935"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037,\tHP:0000662,\tHP:0001133,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274139"	"04214"	"00380288"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274224"	"04214"	"00380373"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000274757"	"04214"	"00380904"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa 45"	""
"0000274856"	"04214"	"00381005"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000275007"	"04214"	"00381156"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa (ARRP)"	""
"0000275517"	"04214"	"00381675"	"00000"	"Isolated (sporadic)"	""	""	"28y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275533"	"04214"	"00381691"	"00000"	"Familial, autosomal dominant"	""	""	"40y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275724"	"04214"	"00381882"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276102"	"04214"	"00382253"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276103"	"04214"	"00382254"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276104"	"04214"	"00382255"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276105"	"04214"	"00382256"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276106"	"04214"	"00382257"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276107"	"04214"	"00382258"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276114"	"04214"	"00382265"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276371"	"04214"	"00382522"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276372"	"04214"	"00382523"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276373"	"04214"	"00382524"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276374"	"04214"	"00382525"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276375"	"04214"	"00382526"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276376"	"04214"	"00382527"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276444"	"04214"	"00382595"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276643"	"04214"	"00382787"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276648"	"04214"	"00382792"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276653"	"04214"	"00382797"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277586"	"04214"	"00383801"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277701"	"04214"	"00383916"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277715"	"04214"	"00383930"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277726"	"04214"	"00383941"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277727"	"04214"	"00383942"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277732"	"04214"	"00383947"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277763"	"04214"	"00383978"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277764"	"04214"	"00383979"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277809"	"04214"	"00384024"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277855"	"04214"	"00384070"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277859"	"04214"	"00384074"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277909"	"04214"	"00384124"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277910"	"04214"	"00384125"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277931"	"04214"	"00384146"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000279199"	"04214"	"00385403"	"00000"	"Isolated (sporadic)"	"49y"	"49"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279527"	"04214"	"00385714"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279969"	"04214"	"00386166"	"00000"	"Familial, autosomal recessive"	"67y"	""	""	"18y"	""	""	""	""	""	""	"retinitis pigmentosa"	"autosomal dominant retinitis pigmentosa"	""
"0000280044"	"04214"	"00386241"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280058"	"04214"	"00386255"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280431"	"04214"	"00386631"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280476"	"04214"	"00386676"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280517"	"04214"	"00386717"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280609"	"04214"	"00386809"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280725"	"04214"	"00386926"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., retinal degeneration, peripheral thinning retina, loss of inner segment ellipsoid band"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280726"	"04214"	"00386927"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280811"	"04214"	"00387033"	"00000"	"Familial, autosomal recessive"	"69y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280812"	"04214"	"00387034"	"00000"	"Familial, autosomal recessive"	"28y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280813"	"04214"	"00387035"	"00000"	"Familial, autosomal recessive"	"60y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280814"	"04214"	"00387036"	"00000"	"Familial, autosomal recessive"	"43y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000281483"	"04214"	"00387914"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, absent smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281484"	"04214"	"00387915"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281485"	"04214"	"00387916"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281486"	"04214"	"00387917"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, reduced smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281487"	"04214"	"00387918"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, reduced smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281488"	"04214"	"00387919"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, reduced smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281489"	"04214"	"00387920"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, reduced smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281490"	"04214"	"00387921"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281491"	"04214"	"00387922"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281492"	"04214"	"00387923"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281493"	"04214"	"00387924"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281494"	"04214"	"00387925"	"00006"	"Familial, autosomal recessive"	"61y"	"asymptomatic, normal smell; peripheral retinal pigmentary changes, normal visual acuity, normal color vision; atrophy outer retina periphery with sparse intra-retinal pigmentation; ERG undetectable rod responses, with normal cone-mediated responses"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281495"	"04214"	"00387926"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, absent smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281496"	"04214"	"00387927"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281497"	"04214"	"00387928"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentoa, normal smell"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281506"	"04214"	"00387951"	"00006"	"Familial, autosomal recessive"	"51y"	"see paper; ..., disturbances in night vision since early childhood; 23y-diagnosis retinitis pigmentosa; 45y-severe constriction visual field; no olfactory impairment"	""	"23y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281508"	"04214"	"00387953"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; 30s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281509"	"04214"	"00387954"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; early 30s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281510"	"04214"	"00387955"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; early 40s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281511"	"04214"	"00387956"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; late 30s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281512"	"04214"	"00387957"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; late 30s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281513"	"04214"	"00387958"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; early 40s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281514"	"04214"	"00387959"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; early 40s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281515"	"04214"	"00387960"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; early 30s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281516"	"04214"	"00387961"	"00006"	"Familial, autosomal recessive"	""	"infancy night blindness; early adolescence loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281517"	"04214"	"00387962"	"00006"	"Familial, autosomal recessive"	""	"childhood night blindness; early 30s-loss of peripheral vision"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281518"	"04214"	"00387963"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281519"	"04214"	"00387964"	"00006"	"Familial, autosomal recessive"	"43y"	"see paper; ..., hyposmia"	""	"39y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281520"	"04214"	"00387965"	"00006"	"Familial, autosomal recessive"	"49y"	"see paper; ..., normosmia (borderline low)"	""	"42y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281521"	"04214"	"00387966"	"00006"	"Familial, autosomal recessive"	"34y"	"see paper; ..., anosmia"	""	"30y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281522"	"04214"	"00387967"	"00006"	"Familial, autosomal recessive"	"49y"	"see paper; ..., hyposmia"	""	"49y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281523"	"04214"	"00387968"	"00006"	"Familial, autosomal recessive"	"52y"	"see paper; ..., hyposmia"	""	"30y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281524"	"04214"	"00387969"	"00006"	"Familial, autosomal recessive"	"68y"	"see paper; ...,  right eye pseudophakic, anosmia"	""	"45y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281525"	"04214"	"00387970"	"00006"	"Familial, autosomal recessive"	"60y"	"see paper; ...,  able to read until 55y, hyposmia"	""	"25y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281526"	"04214"	"00387971"	"00006"	"Familial, autosomal recessive"	"67y"	"see paper; ..., right eye pseudophakic, left eye phthisis bulbi (retinal detachment after glaucoma surgery), both eyes glaucoma, high myopia, hyposmia (borderline high)"	""	"8y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281527"	"04214"	"00387972"	"00006"	"Familial, autosomal recessive"	"79y"	"see paper; ..., both eyes pseudophakic, anosmia"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281528"	"04214"	"00387973"	"00006"	"Familial, autosomal recessive"	"21y"	"see paper; ..., childhood onset, nyctalopia; lens within normal limits; optic disc within normal limits; mild vascular attenuation; no intraretinal cystoid spaces; no intraretinal pigment migration; visual field constriction 18° centrally; ffERG attenuated rod and maximal responses, reduced photopic responses"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281529"	"04214"	"00387974"	"00006"	"Familial, autosomal recessive"	"28y"	"see paper; ..., childhood onset, nyctalopia; lens within normal limits; optic disc within normal limits; mild vascular attenuation; no intraretinal cystoid spaces; no intraretinal pigment migration; visual field constriction 10° centrally; ffERG attenuated rod and maximal responses, reduced photopic responses"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281530"	"04214"	"00387975"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., childhood onset, nyctalopia; lens within normal limits; optic disc within normal limits; normal vascular attenuation; no intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; minimal visual field constriction; ffERG attenuated rod and maximal responses; mild implicit delays in photopic responses"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281531"	"04214"	"00387976"	"00006"	"Familial, autosomal recessive"	"20y"	"see paper; ..., childhood onset, nyctalopia; lens within normal limits; optic disc within normal limits; mild vascular attenuation; no intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; visual field constriction 15° centrally; ffERG attenuated rod and maximal responses, mild implicit delays in photopic responses"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281532"	"04214"	"00387977"	"00006"	"Familial, autosomal recessive"	"38y"	"see paper; ..., childhood onset, nyctalopia; posterior subcapsular cataract; optic disc waxy pallor; severe vascular attenuation; intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; visual field constriction 8° centrally; ffERG severe scotopic and photopic attenuation"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281533"	"04214"	"00387978"	"00006"	"Familial, autosomal recessive"	"46y"	"see paper; ..., childhood onset, nyctalopia; posterior subcapsular cataract; optic disc waxy pallor; severe vascular attenuation; intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; visual field constriction 8° centrally; ffERG severe scotopic and photopic attenuation"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281534"	"04214"	"00387979"	"00006"	"Familial, autosomal recessive"	"60y"	"see paper; ..., childhood onset, nyctalopia; 30s-posterior subcapsular cataract; optic disc waxy pallor; severe vascular attenuation; intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; visual field constriction 8° centrally; ffERG scotopic, photopic responses nonrecordable"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281535"	"04214"	"00387980"	"00006"	"Familial, autosomal recessive"	"70y"	"see paper; ..., childhood onset, nyctalopia; posterior subcapsular cataract; optic disc waxy pallor; severe vascular attenuation; intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; visual field constriction 2° centrally; ffERG scotopic, photopic responses nonrecordable"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281537"	"04214"	"00387982"	"00006"	"Familial, autosomal recessive"	"49y"	"see paper; ..."	""	"49y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281538"	"04214"	"00387983"	"00006"	"Familial, autosomal recessive"	"30y"	"see paper; ..."	""	"5y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281539"	"04214"	"00387984"	"00006"	"Familial, autosomal recessive"	"43y"	"see paper; ..."	""	"43y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281540"	"04214"	"00387985"	"00006"	"Familial, autosomal recessive"	"27y"	"see paper; ..."	""	"17y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281541"	"04214"	"00387986"	"00006"	"Familial, autosomal recessive"	"32y"	"see paper; ..."	""	"17y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281542"	"04214"	"00387987"	"00006"	"Familial, autosomal recessive"	"42y"	"see paper; ..."	""	"27y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281543"	"04214"	"00387988"	"00006"	"Familial, autosomal recessive"	"54y"	"see paper; ..."	""	"4y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281544"	"04214"	"00387989"	"00006"	"Familial, autosomal recessive"	"52y"	"see paper; ..."	""	"12y"	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281545"	"04214"	"00387990"	"00006"	"Familial, autosomal recessive"	"53y"	"see paper; ..."	""	"34y"	""	""	""	""	""	""	"RP46"	"retinitis pigmentosa"	""
"0000281546"	"04214"	"00387991"	"00006"	"Familial, autosomal recessive"	"42y"	"see paper; ..."	""	"32y"	""	""	""	""	""	""	"RP47"	"retinitis pigmentosa"	""
"0000281547"	"04214"	"00387992"	"00006"	"Familial, autosomal recessive"	"52y"	"see paper; ..."	""	"49y"	""	""	""	""	""	""	"RP48"	"retinitis pigmentosa"	""
"0000281548"	"04214"	"00387993"	"00006"	"Familial, autosomal recessive"	"70y"	"see paper; ..."	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000281792"	"04214"	"00388199"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000281793"	"04214"	"00388200"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000281794"	"04214"	"00388201"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., severe retinitis pigmentosa"	""	""	""	""	""	""	""	""	"RP45"	"retinitis pigmentosa"	""
"0000282042"	"04214"	"00388490"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy (RD)"	""
"0000282043"	"04214"	"00388491"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy (RD)"	""
"0000282084"	"04214"	"00388544"	"00000"	"Familial, autosomal recessive"	""	"Non‐syndrom"	""	"24y"	""	""	""	""	""	""	"Retinitis pigmentosa type 45"	"Retinitis pigmentosa"	""
"0000282092"	"04214"	"00388552"	"00000"	"Familial, autosomal recessive"	""	"Non‐syndrom"	""	"37y"	""	""	""	""	""	""	"Retinitis pigmentosa type 45"	"Retinitis pigmentosa"	""
"0000282093"	"04214"	"00388553"	"00000"	"Familial, autosomal recessive"	""	"Non‐syndrom"	""	"18y"	""	""	""	""	""	""	"Retinitis pigmentosa type 45"	"Retinitis pigmentosa"	""
"0000282620"	"04214"	"00389079"	"00000"	"Familial, autosomal recessive"	"63y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282968"	"04214"	"00389427"	"00000"	"Isolated (sporadic)"	"44y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283104"	"04214"	"00389563"	"00000"	"Familial, autosomal recessive"	"43y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283165"	"04214"	"00389624"	"00000"	"Familial, autosomal recessive"	"50y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283183"	"04214"	"00389642"	"00000"	"Familial, autosomal recessive"	"59y"	"age at genetic diagnosis mentioned"	""	"58y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283186"	"04214"	"00389645"	"00000"	"Familial, autosomal recessive"	"50y"	"age at genetic diagnosis mentioned"	""	"50y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283311"	"04214"	"00389770"	"00000"	"Isolated (sporadic)"	"52y"	"age at genetic diagnosis mentioned"	""	"48y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283383"	"04214"	"00389842"	"00000"	"Isolated (sporadic)"	"46y"	"age at genetic diagnosis mentioned"	""	"39y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283493"	"04214"	"00389952"	"00000"	"Isolated (sporadic)"	"31y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283763"	"04214"	"00390225"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283764"	"04214"	"00390226"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000283765"	"04214"	"00390227"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283766"	"04214"	"00390228"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284224"	"04214"	"00390736"	"00000"	"Familial, autosomal recessive"	"63y"	"Visual acuity right eye/left eye: 3/10_1/10, typical rp changes with bone spicule shaped pigment, deposits in the mid periphery, normal macula"	"16y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000284449"	"04214"	"00390961"	"00000"	"Unknown"	"41y-45y"	""	""	""	""	""	""	""	""	""	""	"malattia leventinese (ML)"	""
"0000284797"	"04214"	"00391357"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa 45 (613767)"	"Retinitis pigmentosa 45 (613767)"	""
"0000286900"	"04214"	"00393694"	"00000"	"Isolated (sporadic)"	"45y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287201"	"04214"	"00393995"	"00000"	"Familial, autosomal recessive"	""	"Hypothyroidism, severity, mild; onset, 35 yo; unilateral, HL compatible with Meniere’s disease.RP, nyctalopia, photophobia; VF constriction,fundoscopy."	"14y"	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000287202"	"04214"	"00393996"	"00000"	"Familial, autosomal recessive"	""	"RP, nyctalopia, photophobia; VF constriction,fundoscopy."	"9y"	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000287756"	"04214"	"00394553"	"00000"	"Familial, autosomal recessive"	"56y"	""	"6y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287757"	"04214"	"00394554"	"00000"	"Familial, autosomal recessive"	"57y"	""	""	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287758"	"04214"	"00394555"	"00000"	"Familial, autosomal recessive"	"42y"	""	"7y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287759"	"04214"	"00394556"	"00000"	"Familial, autosomal recessive"	"61y"	""	"45y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287760"	"04214"	"00394557"	"00000"	"Familial, autosomal recessive"	"48y"	""	"7y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287761"	"04214"	"00394558"	"00000"	"Familial, autosomal recessive"	"53y"	""	"28y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287762"	"04214"	"00394559"	"00000"	"Familial, autosomal recessive"	"52y"	""	"49y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289035"	"04214"	"00395873"	"00000"	"Unknown"	"67y2m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000293125"	"05415"	"00400084"	"00000"	"Familial, autosomal recessive"	""	"progressive night blindness and mild to severe hearing impairment, which indicates the diagnosis of USH2; the fundus abnormalities, electroretinography: flattening in the rod and cone responses; optical coherence tomography: reduced photoreceptor layer thickness"	""	""	""	""	""	""	""	""	"Usher syndrome type 2"	""	""
"0000311785"	"04214"	"00420537"	"00000"	"Familial, autosomal recessive"	"67y2m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000318075"	"04214"	"00426937"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000320360"	"00112"	"00429488"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320524"	"00112"	"00429652"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320561"	"00112"	"00429689"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320570"	"00112"	"00429698"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320584"	"00112"	"00429712"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320596"	"00112"	"00429724"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320616"	"00112"	"00429744"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320662"	"00112"	"00429790"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320670"	"00112"	"00429798"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320702"	"00112"	"00429830"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320748"	"00112"	"00429876"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320765"	"00112"	"00429893"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320792"	"00112"	"00429920"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320901"	"00112"	"00430029"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321017"	"00112"	"00430145"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326615"	"02156"	"00436436"	"04552"	"Familial, autosomal recessive"	"40y"	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	"05y"	"05y"	"5y"	""	""	""	""	""	"RP45"	"Retinitis pigmentosa"	""
"0000326618"	"02156"	"00436439"	"04552"	"Familial, autosomal recessive"	"48y"	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	"06y"	"06y"	"6y"	""	""	""	""	""	"RP45"	"Retinitis pigmentosa"	""
"0000326635"	"02156"	"00436457"	"04552"	"Familial, autosomal recessive"	""	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	""	""	""	""	""	""	""	""	"RP45"	"Retinitis pigmentosa"	""
"0000331069"	"00198"	"00434061"	"01985"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Tall Stature"	""
"0000333477"	"05130"	"00444224"	"00006"	"Familial, autosomal recessive"	"21y"	"see paper; ..., no strabismus, no nystagmus"	"1y"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000336206"	"00198"	"00447007"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336644"	"00198"	"00447445"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000336799"	"00198"	"00447600"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336888"	"00198"	"00447689"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinoschisis"	""
"0000340248"	"00198"	"00451573"	"04543"	"Familial, autosomal recessive"	"19y"	"no night vision; day vision 20/100; normal color vision; no nystagmus; no corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"RP45"	"congenital stationary night-blindness"	""
"0000340249"	"00198"	"00451574"	"04543"	"Familial, autosomal recessive"	"11y"	"no night vision; day vision 20/80; normal color vision; no nystagmus; no corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"RP45"	"congenital stationary night-blindness"	""


## Screenings ## Do not remove or alter this header ##
## Count = 407
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000078715"	"00078540"	"1"	"01697"	"01697"	"2016-07-19 14:04:57"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078716"	"00078540"	"1"	"01697"	"01697"	"2016-07-19 14:34:42"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078717"	"00078541"	"1"	"01697"	"01697"	"2016-07-19 15:38:20"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078763"	"00078579"	"1"	"01697"	"01697"	"2016-07-20 17:28:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078765"	"00078581"	"1"	"01697"	"01697"	"2016-07-20 17:39:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078915"	"00078727"	"1"	"01697"	"01697"	"2016-07-23 20:41:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078916"	"00078728"	"1"	"01697"	"01697"	"2016-07-23 20:51:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000078917"	"00078729"	"1"	"01697"	"01697"	"2016-07-23 20:59:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000079189"	"00079003"	"1"	"00006"	"00006"	"2016-07-29 14:27:13"	"00006"	"2016-07-29 14:32:52"	"SEQ"	"DNA"	""	""
"0000079191"	"00079005"	"1"	"00006"	"00006"	"2016-07-29 15:30:53"	""	""	"SEQ"	"DNA"	""	""
"0000079193"	"00079007"	"1"	"00006"	"00006"	"2016-07-29 15:39:20"	"00006"	"2016-07-29 15:46:05"	"SEQ"	"DNA"	""	""
"0000079195"	"00079009"	"1"	"00006"	"00006"	"2016-07-29 15:54:35"	""	""	"SEQ"	"DNA"	""	""
"0000079196"	"00079011"	"1"	"00006"	"00006"	"2016-07-29 16:03:03"	""	""	"SEQ"	"DNA"	""	""
"0000079197"	"00079012"	"1"	"00006"	"00006"	"2016-07-29 16:12:31"	""	""	"SEQ"	"DNA"	""	""
"0000079198"	"00079013"	"1"	"00006"	"00006"	"2016-07-29 16:20:03"	""	""	"SEQ"	"DNA"	""	""
"0000079199"	"00079014"	"1"	"00006"	"00006"	"2016-07-29 16:24:37"	""	""	"SEQ"	"DNA"	""	""
"0000079200"	"00079015"	"1"	"00006"	"00006"	"2016-07-29 16:29:51"	""	""	"SEQ"	"DNA"	""	""
"0000096352"	"00095949"	"1"	"01769"	"01769"	"2017-01-26 21:44:17"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000105472"	"00104999"	"1"	"01244"	"01244"	"2017-06-14 16:30:53"	""	""	"SEQ-NG-I"	"DNA"	"Whole blood"	""
"0000144825"	"00143966"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000145016"	"00144157"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000145130"	"00144271"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000147972"	"00147117"	"0"	"01807"	"01807"	"2018-01-01 18:29:07"	""	""	"SEQ"	"DNA"	""	""
"0000156304"	"00155439"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000234474"	"00233375"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234475"	"00233376"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234476"	"00233377"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234477"	"00233378"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234478"	"00233379"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234479"	"00233380"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234480"	"00233381"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234481"	"00233382"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234482"	"00233383"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234483"	"00233384"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234484"	"00233385"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234485"	"00233386"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234486"	"00233387"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234487"	"00233388"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234488"	"00233389"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234489"	"00233390"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234490"	"00233391"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234491"	"00233392"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234492"	"00233393"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234493"	"00233394"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234494"	"00233395"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234495"	"00233396"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234496"	"00233397"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234497"	"00233398"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234498"	"00233399"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234499"	"00233400"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234500"	"00233401"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234501"	"00233402"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234502"	"00233403"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234503"	"00233404"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234504"	"00233405"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234505"	"00233406"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234506"	"00233407"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234507"	"00233408"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234508"	"00233409"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234509"	"00233410"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234510"	"00233411"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234511"	"00233412"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234512"	"00233413"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234513"	"00233414"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234514"	"00233415"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234515"	"00233416"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234516"	"00233417"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234517"	"00233418"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234518"	"00233419"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234519"	"00233420"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234520"	"00233421"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234521"	"00233422"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234522"	"00233423"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234523"	"00233424"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234524"	"00233425"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234890"	"00233791"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234891"	"00233792"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234892"	"00233793"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234893"	"00233794"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234894"	"00233795"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000292677"	"00291509"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292678"	"00291510"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292679"	"00291511"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292680"	"00291512"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292681"	"00291513"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292682"	"00291514"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292683"	"00291515"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292684"	"00291516"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292685"	"00291517"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305655"	"00304526"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305656"	"00304527"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305657"	"00304528"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305658"	"00304529"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310234"	"00309089"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310235"	"00309090"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310236"	"00309091"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310237"	"00309092"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310238"	"00309093"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310866"	"00309721"	"1"	"00006"	"00006"	"2020-09-01 21:30:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000325529"	"00324339"	"1"	"01807"	"01807"	"2020-12-07 15:28:01"	""	""	"SEQ"	"DNA"	""	""
"0000326729"	"00325518"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326730"	"00325519"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329144"	"00327929"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329153"	"00327938"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329172"	"00327957"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329177"	"00327962"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329181"	"00327966"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329198"	"00327983"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329308"	"00328093"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329359"	"00328144"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329476"	"00328261"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000332497"	"00331277"	"1"	"00000"	"00006"	"2021-02-11 10:36:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000333734"	"00332510"	"1"	"00000"	"00006"	"2021-02-19 16:33:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333772"	"00332548"	"1"	"00000"	"00006"	"2021-02-20 09:48:27"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000334584"	"00333359"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334585"	"00333360"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334653"	"00333428"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000335041"	"00333815"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335042"	"00333816"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335691"	"00334462"	"1"	"00000"	"00006"	"2021-02-28 17:46:08"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336334"	"00335105"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336710"	"00335481"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336711"	"00335482"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336712"	"00335483"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336713"	"00335484"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000337197"	"00335967"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000337198"	"00335968"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360202"	"00358965"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360359"	"00359121"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360365"	"00359127"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360413"	"00359175"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360455"	"00359217"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363415"	"00362186"	"1"	"00000"	"00006"	"2021-04-15 17:02:42"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000363424"	"00362195"	"1"	"00000"	"00006"	"2021-04-15 17:02:42"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000363463"	"00362234"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364680"	"00363452"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"195-gene panel"
"0000364681"	"00363453"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"195-gene panel"
"0000364907"	"00363679"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364910"	"00363682"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364931"	"00363703"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364943"	"00363715"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000365084"	"00363856"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365085"	"00363857"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365086"	"00363858"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365087"	"00363859"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365088"	"00363860"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365089"	"00363861"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365090"	"00363862"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365091"	"00363863"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000365092"	"00363864"	"1"	"01243"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000373857"	"00372625"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373861"	"00372629"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373868"	"00372636"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373872"	"00372640"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373873"	"00372641"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373874"	"00372642"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373878"	"00372646"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373882"	"00372650"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373884"	"00372652"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373889"	"00372657"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373896"	"00372664"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373906"	"00372674"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373922"	"00372690"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373934"	"00372702"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373948"	"00372716"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373952"	"00372720"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373980"	"00372748"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373983"	"00372751"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373984"	"00372752"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374590"	"00373355"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000375058"	"00373826"	"1"	"00000"	"00006"	"2021-05-21 13:56:05"	""	""	"SEQ-NG"	"DNA"	""	"86-gene panel"
"0000375169"	"00373937"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376100"	"00374906"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376493"	"00375296"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376494"	"00375297"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376616"	"00375419"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376632"	"00375435"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377971"	"00376765"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377974"	"00376768"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377978"	"00376772"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377999"	"00376793"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378729"	"00377526"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing, The RPGR exon ORF15 analysis"
"0000380735"	"00379535"	"1"	"03508"	"03508"	"2021-08-05 05:21:52"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381138"	"00379935"	"1"	"03508"	"03508"	"2021-08-10 08:22:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381502"	"00380288"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000381587"	"00380373"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000382118"	"00380904"	"1"	"00000"	"03840"	"2021-08-23 13:21:22"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382219"	"00381005"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ-NG;SEQp"	"DNA"	"blood"	"targeted exon capture/IROme assay"
"0000382371"	"00381156"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382891"	"00381675"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382907"	"00381691"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383098"	"00381882"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383467"	"00382253"	"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"
"0000383468"	"00382254"	"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"
"0000383469"	"00382255"	"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"
"0000383470"	"00382256"	"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"
"0000383471"	"00382257"	"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"
"0000383472"	"00382258"	"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"
"0000383479"	"00382265"	"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"
"0000383736"	"00382522"	"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"
"0000383737"	"00382523"	"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"
"0000383738"	"00382524"	"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"
"0000383739"	"00382525"	"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"
"0000383740"	"00382526"	"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"
"0000383741"	"00382527"	"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"
"0000383809"	"00382595"	"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"
"0000384003"	"00382787"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"microsat"	"DNA"	""	""
"0000384008"	"00382792"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"arraySNP"	"DNA"	""	""
"0000384013"	"00382797"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"arraySEQ;PCR"	"DNA"	"blood"	""
"0000385026"	"00383801"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385141"	"00383916"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385155"	"00383930"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385166"	"00383941"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385167"	"00383942"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385172"	"00383947"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385203"	"00383978"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385204"	"00383979"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385249"	"00384024"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385295"	"00384070"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385299"	"00384074"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385349"	"00384124"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385350"	"00384125"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385371"	"00384146"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000386632"	"00385403"	"1"	"00000"	"03840"	"2021-10-10 19:46:50"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000386942"	"00385714"	"1"	"00000"	"03840"	"2021-10-14 15:38:02"	""	""	"SEQ-NG"	"DNA"	"blood"	"Panel 4 containing 370 genes"
"0000387395"	"00386166"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387470"	"00386241"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387484"	"00386255"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387859"	"00386631"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387904"	"00386676"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387945"	"00386717"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388037"	"00386809"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388154"	"00386926"	"1"	"00006"	"00006"	"2021-10-26 19:33:09"	"00006"	"2021-10-26 20:00:34"	"SEQ"	"DNA"	""	""
"0000388155"	"00386927"	"1"	"00006"	"00006"	"2021-10-26 19:41:49"	"00006"	"2021-10-26 20:05:45"	"SEQ"	"DNA"	""	""
"0000388259"	"00387033"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388260"	"00387034"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388261"	"00387035"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388262"	"00387036"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389148"	"00387914"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389149"	"00387915"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389150"	"00387916"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389151"	"00387917"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389152"	"00387918"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389153"	"00387919"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389154"	"00387920"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389155"	"00387921"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389156"	"00387922"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389157"	"00387923"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389158"	"00387924"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389159"	"00387925"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389160"	"00387926"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389161"	"00387927"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389162"	"00387928"	"1"	"00006"	"00006"	"2021-10-31 15:38:18"	""	""	"SEQ"	"DNA"	""	""
"0000389171"	"00387935"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389172"	"00387936"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389173"	"00387937"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389174"	"00387938"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389175"	"00387939"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389176"	"00387940"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389177"	"00387941"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389178"	"00387942"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389179"	"00387943"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389180"	"00387944"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389181"	"00387945"	"1"	"00006"	"00006"	"2021-10-31 21:26:18"	""	""	"SEQ"	"DNA"	""	""
"0000389182"	"00387946"	"1"	"00006"	"00006"	"2021-10-31 21:35:45"	""	""	"SEQ"	"DNA"	""	""
"0000389183"	"00387947"	"1"	"00006"	"00006"	"2021-10-31 21:35:45"	""	""	"SEQ"	"DNA"	""	""
"0000389184"	"00387948"	"1"	"00006"	"00006"	"2021-10-31 21:35:45"	""	""	"SEQ"	"DNA"	""	""
"0000389187"	"00387951"	"1"	"00006"	"00006"	"2021-10-31 22:15:17"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000389189"	"00387953"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389190"	"00387954"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389191"	"00387955"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389192"	"00387956"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389193"	"00387957"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389194"	"00387958"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389195"	"00387959"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389196"	"00387960"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389197"	"00387961"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389198"	"00387962"	"1"	"00006"	"00006"	"2021-11-01 08:52:17"	""	""	"SEQ"	"DNA"	""	""
"0000389199"	"00387963"	"1"	"00006"	"00006"	"2021-11-01 08:57:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000389200"	"00387964"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389201"	"00387965"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389202"	"00387966"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389203"	"00387967"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389204"	"00387968"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389205"	"00387969"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389206"	"00387970"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389207"	"00387971"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389208"	"00387972"	"1"	"00006"	"00006"	"2021-11-01 09:48:21"	""	""	"SEQ"	"DNA"	""	""
"0000389209"	"00387973"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389210"	"00387974"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389211"	"00387975"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389212"	"00387976"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389213"	"00387977"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389214"	"00387978"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389215"	"00387979"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389216"	"00387980"	"1"	"00006"	"00006"	"2021-11-01 10:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000389218"	"00387982"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389219"	"00387983"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389220"	"00387984"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389221"	"00387985"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389222"	"00387986"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389223"	"00387987"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389224"	"00387988"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389225"	"00387989"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389226"	"00387990"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389227"	"00387991"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389228"	"00387992"	"1"	"00006"	"00006"	"2021-11-01 11:21:20"	""	""	"SEQ"	"DNA"	""	""
"0000389229"	"00387993"	"1"	"00006"	"00006"	"2021-11-01 12:46:47"	""	""	"SEQ"	"DNA"	""	"WES"
"0000389230"	"00387994"	"1"	"00006"	"00006"	"2021-11-01 13:01:22"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000389438"	"00388199"	"1"	"00006"	"00006"	"2021-11-02 18:56:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389439"	"00388200"	"1"	"00006"	"00006"	"2021-11-02 18:56:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389440"	"00388201"	"1"	"00006"	"00006"	"2021-11-02 19:28:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389441"	"00388202"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389442"	"00388203"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389443"	"00388204"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389444"	"00388205"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389445"	"00388206"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389446"	"00388207"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389447"	"00388208"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389448"	"00388209"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389449"	"00388210"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389450"	"00388211"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389451"	"00388212"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389452"	"00388213"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389453"	"00388214"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389454"	"00388215"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389455"	"00388216"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389456"	"00388217"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389457"	"00388218"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389458"	"00388219"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389459"	"00388220"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389460"	"00388221"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389461"	"00388222"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389462"	"00388223"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389463"	"00388224"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389464"	"00388225"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389465"	"00388226"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389466"	"00388227"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389467"	"00388228"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389468"	"00388229"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389469"	"00388230"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389470"	"00388231"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389471"	"00388232"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389472"	"00388233"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389473"	"00388234"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389474"	"00388235"	"1"	"00006"	"00006"	"2021-11-03 08:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000389731"	"00388490"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000389732"	"00388491"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000389786"	"00388544"	"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"
"0000389794"	"00388552"	"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"
"0000389795"	"00388553"	"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"
"0000390322"	"00389079"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390670"	"00389427"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390806"	"00389563"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390867"	"00389624"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390885"	"00389642"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390888"	"00389645"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391013"	"00389770"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391085"	"00389842"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000391195"	"00389952"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391466"	"00390225"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391467"	"00390226"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391468"	"00390227"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391469"	"00390228"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391977"	"00390736"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392202"	"00390961"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392599"	"00391357"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000394942"	"00393694"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395243"	"00393995"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000395244"	"00393996"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000395800"	"00394553"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395801"	"00394554"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395802"	"00394555"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395803"	"00394556"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395804"	"00394557"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395805"	"00394558"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395806"	"00394559"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397112"	"00395873"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000401327"	"00400084"	"1"	"00000"	"03840"	"2022-01-24 14:27:52"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"Whole exome sequencing"
"0000421846"	"00420537"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000428257"	"00426937"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000430901"	"00429488"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431065"	"00429652"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431102"	"00429689"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431111"	"00429698"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431125"	"00429712"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431137"	"00429724"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431157"	"00429744"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431203"	"00429790"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431211"	"00429798"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431243"	"00429830"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431289"	"00429876"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431306"	"00429893"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431333"	"00429920"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431442"	"00430029"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431558"	"00430145"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000435525"	"00434061"	"1"	"01985"	"00006"	"2023-03-19 09:44:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437920"	"00436436"	"1"	"04552"	"04552"	"2023-09-15 20:37:56"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000437923"	"00436439"	"1"	"04552"	"04552"	"2023-09-15 20:54:05"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000437941"	"00436457"	"1"	"04552"	"04552"	"2023-09-17 04:25:53"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000445722"	"00444224"	"1"	"00006"	"00006"	"2023-12-21 09:57:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000448584"	"00447007"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449022"	"00447445"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449177"	"00447600"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449266"	"00447689"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000453174"	"00451573"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453175"	"00451574"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 339
"{{screeningid}}"	"{{geneid}}"
"0000079189"	"CNGB1"
"0000079189"	"KIFC3"
"0000079191"	"CNGB1"
"0000079193"	"CNGB1"
"0000079195"	"CNGB1"
"0000079196"	"CNGB1"
"0000079197"	"CNGB1"
"0000079198"	"CNGB1"
"0000079199"	"CNGB1"
"0000079200"	"CNGB1"
"0000096352"	"CNGB1"
"0000144825"	"EYS"
"0000145016"	"EYS"
"0000145130"	"EYS"
"0000156304"	"CNGB1"
"0000234474"	"CNGB1"
"0000234475"	"CNGB1"
"0000234476"	"CNGB1"
"0000234477"	"CNGB1"
"0000234478"	"CNGB1"
"0000234479"	"CNGB1"
"0000234480"	"CNGB1"
"0000234481"	"CNGB1"
"0000234482"	"CNGB1"
"0000234483"	"CNGB1"
"0000234484"	"CNGB1"
"0000234485"	"CNGB1"
"0000234486"	"CNGB1"
"0000234487"	"CNGB1"
"0000234488"	"CNGB1"
"0000234489"	"CNGB1"
"0000234490"	"CNGB1"
"0000234491"	"CNGB1"
"0000234492"	"CNGB1"
"0000234493"	"CNGB1"
"0000234494"	"CNGB1"
"0000234495"	"CNGB1"
"0000234496"	"CNGB1"
"0000234497"	"CNGB1"
"0000234498"	"CNGB1"
"0000234499"	"CNGB1"
"0000234500"	"CNGB1"
"0000234501"	"CNGB1"
"0000234502"	"CNGB1"
"0000234503"	"CNGB1"
"0000234504"	"CNGB1"
"0000234505"	"CNGB1"
"0000234506"	"CNGB1"
"0000234507"	"CNGB1"
"0000234508"	"CNGB1"
"0000234509"	"CNGB1"
"0000234510"	"CNGB1"
"0000234511"	"CNGB1"
"0000234512"	"CNGB1"
"0000234513"	"CNGB1"
"0000234514"	"CNGB1"
"0000234515"	"CNGB1"
"0000234516"	"CNGB1"
"0000234517"	"CNGB1"
"0000234518"	"CNGB1"
"0000234519"	"CNGB1"
"0000234520"	"CNGB1"
"0000234521"	"CNGB1"
"0000234522"	"CNGB1"
"0000234523"	"CNGB1"
"0000234524"	"CNGB1"
"0000234890"	"CNGB1"
"0000234891"	"CNGB1"
"0000234892"	"CNGB1"
"0000234893"	"CNGB1"
"0000234894"	"CNGB1"
"0000310234"	"CNGB1"
"0000310235"	"CNGB1"
"0000310236"	"CNGB1"
"0000310237"	"CNGB1"
"0000310238"	"CNGB1"
"0000310866"	"CNGB1"
"0000326729"	"CNGB1"
"0000326730"	"CNGB1"
"0000329144"	"CNGB1"
"0000329153"	"CNGB1"
"0000329172"	"CNGB1"
"0000329177"	"CNGB1"
"0000329181"	"CNGB1"
"0000329198"	"CNGB1"
"0000329308"	"CNGB1"
"0000329359"	"CNGB1"
"0000329476"	"CNGB1"
"0000332497"	"CNGB1"
"0000333734"	"CNGB1"
"0000333734"	"EYS"
"0000333772"	"CNGB1"
"0000334584"	"RHO"
"0000334585"	"NR2E3"
"0000335041"	"CNGB1"
"0000335042"	"CNGB1"
"0000335691"	"CNGB1"
"0000336334"	"CNGB1"
"0000336710"	"CNGB1"
"0000336711"	"CNGB1"
"0000336712"	"CNGB1"
"0000336713"	"CNGB1"
"0000337197"	"CNGB1"
"0000337198"	"CNGB1"
"0000363415"	"CNGB1"
"0000363424"	"CNGB1"
"0000363463"	"CNGB1"
"0000363463"	"EYS"
"0000364680"	"CNGB1"
"0000364681"	"CNGB1"
"0000364907"	"CNGB1"
"0000364910"	"CNGB1"
"0000364931"	"CNGB1"
"0000364943"	"CNGB1"
"0000365084"	"CNGB1"
"0000365085"	"CNGB1"
"0000365086"	"CNGB1"
"0000365087"	"CNGB1"
"0000365088"	"CNGB1"
"0000365089"	"CNGB1"
"0000365090"	"CNGB1"
"0000365091"	"CNGB1"
"0000365092"	"CNGB1"
"0000375058"	"CNGB1"
"0000375169"	"CNGB1"
"0000376493"	"CNGB1"
"0000376494"	"CNGB1"
"0000381502"	"CNGB1"
"0000381587"	"CNGB1"
"0000382118"	"USH2A"
"0000382219"	"CNGB1"
"0000382371"	"CNGB1"
"0000382891"	"CNGB1"
"0000382907"	"CNGB1"
"0000383098"	"CNGB1"
"0000383467"	"CNGB1"
"0000383468"	"CNGB1"
"0000383469"	"CNGB1"
"0000383470"	"CNGB1"
"0000383471"	"CNGB1"
"0000383472"	"CNGB1"
"0000383479"	"CNGB1"
"0000383736"	"CNGB1"
"0000383737"	"CNGB1"
"0000383738"	"CNGB1"
"0000383739"	"CNGB1"
"0000383740"	"CNGB1"
"0000383741"	"CNGB1"
"0000383809"	"RP1"
"0000384003"	"CNGB1"
"0000384008"	"CNGB1"
"0000384013"	"CNGB1"
"0000385026"	"CNGB1"
"0000385141"	"CNGB1"
"0000385155"	"CNGB1"
"0000385166"	"CNGB1"
"0000385167"	"CNGB1"
"0000385172"	"CNGB1"
"0000385203"	"CNGB1"
"0000385204"	"CNGB1"
"0000385249"	"CNGB1"
"0000385295"	"CNGB1"
"0000385299"	"CNGB1"
"0000385349"	"CNGB1"
"0000385350"	"CNGB1"
"0000385371"	"CNGB1"
"0000386632"	"CNGB1"
"0000386942"	"CNGB1"
"0000387395"	"CNGB1"
"0000387470"	"CNGB1"
"0000387484"	"ABCA4"
"0000387859"	"CNGB1"
"0000387904"	"CNGB1"
"0000387945"	"CNGB1"
"0000388037"	"CNGB1"
"0000388154"	"CNGB1"
"0000388155"	"CNGB1"
"0000388259"	"CNGB1"
"0000388260"	"CNGB1"
"0000388261"	"CNGB1"
"0000388262"	"CNGB1"
"0000389148"	"CNGB1"
"0000389149"	"CNGB1"
"0000389150"	"CNGB1"
"0000389151"	"CNGB1"
"0000389152"	"CNGB1"
"0000389153"	"CNGB1"
"0000389154"	"CNGB1"
"0000389155"	"CNGB1"
"0000389156"	"CNGB1"
"0000389157"	"CNGB1"
"0000389158"	"CNGB1"
"0000389159"	"CNGB1"
"0000389160"	"CNGB1"
"0000389161"	"CNGB1"
"0000389162"	"CNGB1"
"0000389171"	"CNGB1"
"0000389172"	"CNGB1"
"0000389173"	"CNGB1"
"0000389174"	"CNGB1"
"0000389175"	"CNGB1"
"0000389176"	"CNGB1"
"0000389177"	"CNGB1"
"0000389178"	"CNGB1"
"0000389179"	"CNGB1"
"0000389180"	"CNGB1"
"0000389181"	"CNGB1"
"0000389182"	"CNGB1"
"0000389183"	"CNGB1"
"0000389184"	"CNGB1"
"0000389187"	"CNGB1"
"0000389189"	"CNGB1"
"0000389190"	"CNGB1"
"0000389191"	"CNGB1"
"0000389192"	"CNGB1"
"0000389193"	"CNGB1"
"0000389194"	"CNGB1"
"0000389195"	"CNGB1"
"0000389196"	"CNGB1"
"0000389197"	"CNGB1"
"0000389198"	"CNGB1"
"0000389199"	"CNGB1"
"0000389200"	"CNGB1"
"0000389201"	"CNGB1"
"0000389202"	"CNGB1"
"0000389203"	"CNGB1"
"0000389204"	"CNGB1"
"0000389205"	"CNGB1"
"0000389206"	"CNGB1"
"0000389207"	"CNGB1"
"0000389208"	"CNGB1"
"0000389209"	"CNGB1"
"0000389210"	"CNGB1"
"0000389211"	"CNGB1"
"0000389212"	"CNGB1"
"0000389213"	"CNGB1"
"0000389214"	"CNGB1"
"0000389215"	"CNGB1"
"0000389216"	"CNGB1"
"0000389218"	"CNGB1"
"0000389219"	"CNGB1"
"0000389220"	"CNGB1"
"0000389221"	"CNGB1"
"0000389222"	"CNGB1"
"0000389223"	"CNGB1"
"0000389224"	"CNGB1"
"0000389225"	"CNGB1"
"0000389226"	"CNGB1"
"0000389227"	"CNGB1"
"0000389228"	"CNGB1"
"0000389230"	"CNGB1"
"0000389440"	"CNGB1"
"0000389441"	"CNGB1"
"0000389442"	"CNGB1"
"0000389443"	"CNGB1"
"0000389444"	"CNGB1"
"0000389445"	"CNGB1"
"0000389446"	"CNGB1"
"0000389447"	"CNGB1"
"0000389448"	"CNGB1"
"0000389449"	"CNGB1"
"0000389450"	"CNGB1"
"0000389451"	"CNGB1"
"0000389452"	"CNGB1"
"0000389453"	"CNGB1"
"0000389454"	"CNGB1"
"0000389455"	"CNGB1"
"0000389456"	"CNGB1"
"0000389457"	"CNGB1"
"0000389458"	"CNGB1"
"0000389459"	"CNGB1"
"0000389460"	"CNGB1"
"0000389461"	"CNGB1"
"0000389462"	"CNGB1"
"0000389463"	"CNGB1"
"0000389464"	"CNGB1"
"0000389465"	"CNGB1"
"0000389466"	"CNGB1"
"0000389467"	"CNGB1"
"0000389468"	"CNGB1"
"0000389469"	"CNGB1"
"0000389470"	"CNGB1"
"0000389471"	"CNGB1"
"0000389472"	"CNGB1"
"0000389473"	"CNGB1"
"0000389474"	"CNGB1"
"0000389731"	"CNGB1"
"0000389732"	"CNGB1"
"0000389786"	"CNGB1"
"0000389794"	"CNGB1"
"0000389795"	"CNGB1"
"0000390322"	"CNGB1"
"0000390670"	"CNGB1"
"0000390806"	"CNGB1"
"0000390867"	"CNGB1"
"0000390885"	"CNGB1"
"0000390888"	"CNGB1"
"0000391013"	"CNGB1"
"0000391085"	"CNGB1"
"0000391195"	"CNGB1"
"0000391466"	"CNGB1"
"0000391467"	"CNGB1"
"0000391468"	"CNGB1"
"0000391469"	"CNGB1"
"0000391977"	"CNGB1"
"0000392202"	"CNGB1"
"0000392599"	"CNGB1"
"0000394942"	"CNGB1"
"0000395243"	"CNGB1"
"0000395244"	"CNGB1"
"0000395800"	"CNGB1"
"0000395801"	"CNGB1"
"0000395802"	"CNGB1"
"0000395803"	"CNGB1"
"0000395804"	"CNGB1"
"0000395805"	"CNGB1"
"0000395806"	"CNGB1"
"0000397112"	"CNGB1"
"0000401327"	"USH2A"
"0000421846"	"CNGB1"
"0000428257"	"CNGB1"
"0000430901"	"CNGB1"
"0000431065"	"CNGB1"
"0000431102"	"CNGB1"
"0000431111"	"CNGB1"
"0000431125"	"CNGB1"
"0000431137"	"CNGB1"
"0000431157"	"CNGB1"
"0000431203"	"CNGB1"
"0000431211"	"CNGB1"
"0000431243"	"CNGB1"
"0000431289"	"CNGB1"
"0000431306"	"CNGB1"
"0000431333"	"CNGB1"
"0000431442"	"CNGB1"
"0000431558"	"CNGB1"
"0000437920"	"CNGB1"
"0000437923"	"CNGB1"
"0000437941"	"CNGB1"


## 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 = 766
"{{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}}"
"0000125818"	"0"	"70"	"16"	"57998062"	"57998062"	"subst"	"0"	"01697"	"CNGB1_000002"	"g.57998062G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57964158G>A"	""	"likely pathogenic"	""
"0000125819"	"0"	"70"	"16"	"57993889"	"57993889"	"subst"	"0"	"01697"	"CNGB1_000001"	"g.57993889G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57959985G>A"	""	"likely pathogenic"	""
"0000125866"	"3"	"70"	"16"	"57993790"	"57993790"	"subst"	"0"	"01697"	"CNGB1_000003"	"g.57993790A>T"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.57959886A>T"	""	"likely pathogenic"	""
"0000125868"	"3"	"50"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"01697"	"CNGB1_000004"	"g.57935275T>A"	""	""	""	""	""	"Germline"	""	"rs201162411"	"0"	""	""	"g.57901371T>A"	""	"VUS"	""
"0000125870"	"0"	"70"	"16"	"57931402"	"57931405"	"dup"	"0"	"01697"	"CNGB1_000005"	"g.57931402_57931405dup"	""	""	""	"3142_3143insGTGG"	""	"Germline"	"?"	"rs756806434"	"0"	""	""	"g.57897498_57897501dup"	""	"likely pathogenic"	""
"0000126482"	"0"	"70"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"01697"	"CNGB1_000006"	"g.57984367G>A"	""	""	""	""	""	"Germline"	""	"rs372504780"	"0"	""	""	"g.57950463G>A"	""	"likely pathogenic"	""
"0000126483"	"3"	"70"	"16"	"57950065"	"57950065"	"subst"	"4.06101E-6"	"01697"	"CNGB1_000008"	"g.57950065G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.57916161G>A"	""	"likely pathogenic"	""
"0000126484"	"3"	"70"	"16"	"57938733"	"57938733"	"dup"	"0"	"01697"	"CNGB1_000007"	"g.57938733dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"likely pathogenic"	""
"0000127762"	"3"	"90"	"16"	"57931817"	"57931817"	"subst"	"0"	"00006"	"CNGB1_000009"	"g.57931817C>A"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}, {OMIM600724:0001}"	""	""	"linkage analysis and homozygosity mapping; not in 300 control chromosomes"	"Germline"	"yes"	"rs121918532"	"0"	""	""	"g.57897913C>A"	""	"pathogenic"	""
"0000127779"	"0"	"10"	"16"	"57953010"	"57953010"	"subst"	"0.0443613"	"00006"	"CNGB1_000024"	"g.57953010C>G"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	""	"c.1950C>G"	"variant found in cases and controls"	"Germline"	""	""	"0"	""	""	"g.57919106C>G"	""	"benign"	""
"0000127781"	"3"	"90"	"16"	"57921758"	"57921758"	"subst"	"0"	"00006"	"CNGB1_000025"	"g.57921758C>T"	""	"{PMID:Kondo 2004:15557452}, {OMIM600724:0002}"	""	"3444+1G>A (IVS32)"	""	"Germline"	""	""	"0"	""	""	"g.57887854C>T"	""	"pathogenic"	""
"0000127782"	"3"	"30"	"16"	"57921752"	"57921752"	"subst"	"0.306861"	"00006"	"CNGB1_000026"	"g.57921752A>G"	""	"{PMID:Kondo 2004:15557452}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57887848A>G"	""	"likely benign"	""
"0000127784"	"3"	"70"	"16"	"57957231"	"57957231"	"subst"	"0.000430954"	"00006"	"CNGB1_000027"	"g.57957231G>C"	""	"{PMID:Fu 2013:23661369}, {DOI:Fu 2013:10.1167/iovs.13-11672}, {OMIM600724:0003}"	""	""	""	"Germline"	""	"rs201553871"	"0"	""	""	"g.57923327G>C"	""	"likely pathogenic"	""
"0000127785"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Simpson 2011:21147909}, {DOI:Simpson 2011:10.1136/jmg.2010.083568}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	""
"0000127786"	"3"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Bocquet 2013:24339724}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57915269G>A"	""	"pathogenic (recessive)"	""
"0000127787"	"3"	"90"	"16"	"57938781"	"57938781"	"subst"	"2.03202E-5"	"00006"	"CNGB1_000029"	"g.57938781T>C"	""	"{PMID:Maria 2015:25775262}, {DOI:Maria 2015:10.1371/journal.pone.0119806}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57904877T>C"	""	"pathogenic"	""
"0000127788"	"3"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Saqib 2015:25943428}, {DOI:Saqib 2015:10.1038/srep09965}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic"	""
"0000127789"	"3"	"90"	"16"	"57938777"	"57938781"	"delins"	"0"	"00006"	"CNGB1_000031"	"g.57938777_57938781delinsGCC"	""	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561},{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57904873_57904877delinsGCC"	""	"pathogenic"	""
"0000158345"	"3"	"90"	"16"	"57938777"	"57938781"	"delins"	"0"	"01769"	"CNGB1_000031"	"g.57938777_57938781delinsGCC"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57904873_57904877delinsGCC"	""	"pathogenic"	""
"0000170893"	"3"	"90"	"16"	"57937755"	"57937758"	"del"	"0"	"01244"	"CNGB1_000032"	"g.57937755_57937758del"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	"2762_2765delACGA"	""	"Germline"	""	""	"0"	""	""	"g.57903851_57903854del"	""	"pathogenic"	"ACMG"
"0000241252"	"0"	"70"	"16"	"57937725"	"57937725"	"subst"	"8.53672E-5"	"01807"	"CNGB1_000034"	"g.57937725C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57903821C>T"	""	"likely pathogenic"	""
"0000241253"	"0"	"50"	"16"	"57918083"	"57918083"	"del"	"0"	"01807"	"CNGB1_000033"	"g.57918083del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57884179del"	""	"VUS"	""
"0000249211"	"0"	"10"	"16"	"57921752"	"57921752"	"subst"	"0.306861"	"02325"	"CNGB1_000026"	"g.57921752A>G"	""	""	""	"CNGB1(NM_001297.5):c.3462+7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57887848A>G"	""	"benign"	""
"0000255306"	"0"	"30"	"16"	"57937719"	"57937719"	"subst"	"2.43936E-5"	"01943"	"CNGB1_000041"	"g.57937719A>G"	""	""	""	"CNGB1(NM_001297.4):c.2794+7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903815A>G"	""	"likely benign"	""
"0000256120"	"0"	"50"	"16"	"57938645"	"57938645"	"subst"	"8.12216E-6"	"01943"	"CNGB1_000045"	"g.57938645A>C"	""	""	""	"CNGB1(NM_001297.4):c.2627T>G (p.I876S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57904741A>C"	""	"VUS"	""
"0000256633"	"0"	"50"	"16"	"57992379"	"57992379"	"subst"	"0"	"01943"	"CNGB1_000072"	"g.57992379A>G"	""	""	""	"CNGB1(NM_001297.4):c.772T>C (p.W258R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57958475A>G"	""	"VUS"	""
"0000264684"	"0"	"10"	"16"	"57918056"	"57918056"	"subst"	"4.89896E-5"	"02330"	"CNGB1_000035"	"g.57918056C>T"	""	""	""	"CNGB1(NM_001297.5):c.*12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57884152C>T"	""	"benign"	""
"0000264685"	"0"	"10"	"16"	"57974243"	"57974243"	"subst"	"0.00212374"	"02330"	"CNGB1_000069"	"g.57974243G>A"	""	""	""	"CNGB1(NM_001297.5):c.1122-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57940339G>A"	""	"benign"	""
"0000264686"	"0"	"10"	"16"	"57974168"	"57974168"	"subst"	"0.000133827"	"02330"	"CNGB1_000068"	"g.57974168G>A"	""	""	""	"CNGB1(NM_001297.4):c.1179C>T (p.D393=), CNGB1(NM_001297.5):c.1179C>T (p.D393=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57940264G>A"	""	"benign"	""
"0000264687"	"0"	"10"	"16"	"58001068"	"58001068"	"subst"	"0.00114521"	"02330"	"CNGB1_000078"	"g.58001068C>T"	""	""	""	"CNGB1(NM_001297.5):c.123G>A (p.P41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57967164C>T"	""	"benign"	""
"0000264688"	"0"	"10"	"16"	"57973431"	"57973431"	"subst"	"0.000325574"	"02330"	"CNGB1_000066"	"g.57973431G>C"	""	""	""	"CNGB1(NM_001297.4):c.1275C>G (p.A425=), CNGB1(NM_001297.5):c.1275C>G (p.A425=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57939527G>C"	""	"benign"	""
"0000264689"	"0"	"10"	"16"	"57965655"	"57965655"	"subst"	"0.00140941"	"02330"	"CNGB1_000065"	"g.57965655G>A"	""	""	""	"CNGB1(NM_001297.5):c.1500C>T (p.T500=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57931751G>A"	""	"benign"	""
"0000264690"	"0"	"30"	"16"	"57965632"	"57965632"	"subst"	"4.875E-5"	"02330"	"CNGB1_000064"	"g.57965632G>A"	""	""	""	"CNGB1(NM_001297.4):c.1523C>T (p.S508L), CNGB1(NM_001297.5):c.1523C>T (p.S508L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57931728G>A"	""	"likely benign"	""
"0000264691"	"0"	"10"	"16"	"57957240"	"57957240"	"subst"	"0.000618007"	"02330"	"CNGB1_000063"	"g.57957240G>A"	""	""	""	"CNGB1(NM_001297.4):c.1580C>T (p.A527V), CNGB1(NM_001297.5):c.1580C>T (p.A527V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57923336G>A"	""	"benign"	""
"0000264692"	"0"	"10"	"16"	"58001018"	"58001018"	"subst"	"0.00243352"	"02330"	"CNGB1_000077"	"g.58001018G>A"	""	""	""	"CNGB1(NM_001297.5):c.159+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57967114G>A"	""	"benign"	""
"0000264693"	"0"	"50"	"16"	"57954302"	"57954302"	"subst"	"4.0619E-6"	"02330"	"CNGB1_000058"	"g.57954302C>A"	""	""	""	"CNGB1(NM_001297.5):c.1790G>T (p.S597I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57920398C>A"	""	"VUS"	""
"0000264694"	"0"	"10"	"16"	"57951398"	"57951398"	"subst"	"3.26033E-5"	"02330"	"CNGB1_000056"	"g.57951398G>A"	""	""	""	"CNGB1(NM_001297.5):c.1958-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57917494G>A"	""	"benign"	""
"0000264695"	"0"	"10"	"16"	"57945788"	"57945788"	"subst"	"0.000443277"	"02330"	"CNGB1_000051"	"g.57945788G>A"	""	""	""	"CNGB1(NM_001297.4):c.2370-9C>T, CNGB1(NM_001297.5):c.2370-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57911884G>A"	""	"benign"	""
"0000264697"	"0"	"30"	"16"	"57938771"	"57938771"	"subst"	"1.21884E-5"	"02330"	"CNGB1_000049"	"g.57938771C>A"	""	""	""	"CNGB1(NM_001297.4):c.2501G>T (p.R834L), CNGB1(NM_001297.5):c.2501G>T (p.R834L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57904867C>A"	""	"likely benign"	""
"0000264698"	"0"	"10"	"16"	"57938746"	"57938746"	"subst"	"0.000207135"	"02330"	"CNGB1_000048"	"g.57938746G>A"	""	""	""	"CNGB1(NM_001297.4):c.2526C>T (p.T842=), CNGB1(NM_001297.5):c.2526C>T (p.T842=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57904842G>A"	""	"benign"	""
"0000264699"	"0"	"50"	"16"	"57938717"	"57938717"	"subst"	"1.2183E-5"	"02330"	"CNGB1_000046"	"g.57938717G>A"	""	""	""	"CNGB1(NM_001297.5):c.2555C>T (p.P852L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57904813G>A"	""	"VUS"	""
"0000264700"	"0"	"10"	"16"	"57937772"	"57937772"	"subst"	"0.000105605"	"02330"	"CNGB1_000042"	"g.57937772G>A"	""	""	""	"CNGB1(NM_001297.5):c.2748C>T (p.R916=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903868G>A"	""	"benign"	""
"0000264701"	"0"	"30"	"16"	"57918264"	"57918264"	"subst"	"0.00117645"	"02330"	"CNGB1_000037"	"g.57918264C>T"	""	""	""	"CNGB1(NM_001297.4):c.3560G>A (p.R1187Q), CNGB1(NM_001297.5):c.3560G>A (p.R1187Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57884360C>T"	""	"likely benign"	""
"0000264702"	"0"	"10"	"16"	"57918240"	"57918240"	"subst"	"0.00204499"	"02330"	"CNGB1_000036"	"g.57918240G>C"	""	""	""	"CNGB1(NM_001297.4):c.3584C>G (p.S1195C), CNGB1(NM_001297.5):c.3584C>G (p.S1195C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57884336G>C"	""	"benign"	""
"0000264703"	"0"	"10"	"16"	"57996738"	"57996738"	"subst"	"0.0029817"	"02330"	"CNGB1_000076"	"g.57996738G>T"	""	""	""	"CNGB1(NM_001297.4):c.412+8C>A, CNGB1(NM_001297.5):c.412+8C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57962834G>T"	""	"benign"	""
"0000264704"	"0"	"10"	"16"	"57993919"	"57993919"	"subst"	"0.00147035"	"02330"	"CNGB1_000075"	"g.57993919T>A"	""	""	""	"CNGB1(NM_001297.5):c.634A>T (p.T212S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57960015T>A"	""	"benign"	""
"0000264705"	"0"	"50"	"16"	"57993840"	"57993840"	"subst"	"9.71287E-5"	"02330"	"CNGB1_000074"	"g.57993840C>T"	""	""	""	"CNGB1(NM_001297.5):c.713G>A (p.G238D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57959936C>T"	""	"VUS"	""
"0000264707"	"0"	"10"	"16"	"57991285"	"57991285"	"subst"	"0.000166507"	"02330"	"CNGB1_000071"	"g.57991285C>A"	""	""	""	"CNGB1(NM_001297.4):c.838-4G>T, CNGB1(NM_001297.5):c.838-4G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57957381C>A"	""	"benign"	""
"0000264708"	"0"	"30"	"16"	"57984441"	"57984441"	"subst"	"0.000674276"	"02330"	"CNGB1_000070"	"g.57984441C>T"	""	""	""	"CNGB1(NM_001297.4):c.878G>A (p.S293N), CNGB1(NM_001297.5):c.878G>A (p.S293N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57950537C>T"	""	"likely benign"	""
"0000266850"	"0"	"10"	"16"	"57974240"	"57974240"	"subst"	"0.495003"	"02325"	"CNGB1_000013"	"g.57974240G>A"	""	""	""	"CNGB1(NM_001297.4):c.1122-15C>T, CNGB1(NM_001297.5):c.1122-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57940336G>A"	""	"benign"	""
"0000266851"	"0"	"10"	"16"	"57951394"	"57951394"	"subst"	"0.271597"	"02325"	"CNGB1_000016"	"g.57951394T>G"	""	""	""	"CNGB1(NM_001297.5):c.1958-14A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57917490T>G"	""	"benign"	""
"0000266852"	"0"	"10"	"16"	"57950057"	"57950057"	"subst"	"0.357378"	"02325"	"CNGB1_000053"	"g.57950057G>A"	""	""	""	"CNGB1(NM_001297.5):c.2193C>T (p.N731=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57916153G>A"	""	"benign"	""
"0000266853"	"0"	"10"	"16"	"57937895"	"57937895"	"subst"	"0.812448"	"02325"	"CNGB1_000044"	"g.57937895G>A"	""	""	""	"CNGB1(NM_001297.5):c.2635-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903991G>A"	""	"benign"	""
"0000266854"	"0"	"10"	"16"	"57937856"	"57937856"	"subst"	"0.765266"	"02325"	"CNGB1_000043"	"g.57937856G>C"	""	""	""	"CNGB1(NM_001297.5):c.2664C>G (p.A888=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903952G>C"	""	"benign"	""
"0000266855"	"0"	"10"	"16"	"57996960"	"57996960"	"subst"	"0.781906"	"02325"	"CNGB1_000022"	"g.57996960C>T"	""	""	""	"CNGB1(NM_001297.5):c.299G>A (p.R100H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57963056C>T"	""	"benign"	""
"0000266856"	"0"	"10"	"16"	"57996932"	"57996932"	"subst"	"0.431186"	"02325"	"CNGB1_000011"	"g.57996932G>A"	""	""	""	"CNGB1(NM_001297.5):c.327C>T (p.G109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57963028G>A"	""	"benign"	""
"0000273658"	"0"	"30"	"16"	"57974240"	"57974240"	"subst"	"0.495003"	"01943"	"CNGB1_000013"	"g.57974240G>A"	""	""	""	"CNGB1(NM_001297.4):c.1122-15C>T, CNGB1(NM_001297.5):c.1122-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57940336G>A"	""	"likely benign"	""
"0000273659"	"0"	"30"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"01943"	"CNGB1_000067"	"g.57974143C>T"	""	""	""	"CNGB1(NM_001297.4):c.1204G>A (p.D402N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57940239C>T"	""	"likely benign"	""
"0000273660"	"0"	"50"	"16"	"57957189"	"57957189"	"subst"	"0.000346167"	"01943"	"CNGB1_000062"	"g.57957189G>A"	""	""	""	"CNGB1(NM_001297.4):c.1631C>T (p.P544L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57923285G>A"	""	"VUS"	""
"0000273661"	"0"	"50"	"16"	"57954438"	"57954438"	"subst"	"3.26161E-5"	"01943"	"CNGB1_000061"	"g.57954438G>A"	""	""	""	"CNGB1(NM_001297.4):c.1654C>T (p.R552C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57920534G>A"	""	"VUS"	""
"0000273662"	"0"	"50"	"16"	"57954437"	"57954437"	"subst"	"8.15454E-5"	"01943"	"CNGB1_000060"	"g.57954437C>T"	""	""	""	"CNGB1(NM_001297.4):c.1655G>A (p.R552H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57920533C>T"	""	"VUS"	""
"0000273663"	"0"	"30"	"16"	"57954425"	"57954425"	"subst"	"0.000244161"	"01943"	"CNGB1_000059"	"g.57954425G>T"	""	""	""	"CNGB1(NM_001297.4):c.1667C>A (p.T556K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57920521G>T"	""	"likely benign"	""
"0000273664"	"0"	"50"	"16"	"57953122"	"57953122"	"subst"	"3.65637E-5"	"01943"	"CNGB1_000057"	"g.57953122G>A"	""	""	""	"CNGB1(NM_001297.4):c.1838C>T (p.T613I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57919218G>A"	""	"VUS"	""
"0000273665"	"0"	"50"	"16"	"57951204"	"57951204"	"subst"	"6.09528E-5"	"01943"	"CNGB1_000055"	"g.57951204G>A"	""	""	""	"CNGB1(NM_001297.4):c.2134C>T (p.R712C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57917300G>A"	""	"VUS"	""
"0000273666"	"0"	"50"	"16"	"57951185"	"57951185"	"subst"	"0.000126291"	"01943"	"CNGB1_000054"	"g.57951185C>G"	""	""	""	"CNGB1(NM_001297.4):c.2153G>C (p.G718A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57917281C>G"	""	"VUS"	""
"0000273667"	"0"	"30"	"16"	"57950023"	"57950023"	"subst"	"0.000113708"	"01943"	"CNGB1_000052"	"g.57950023C>A"	""	""	""	"CNGB1(NM_001297.4):c.2217+10G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57916119C>A"	""	"likely benign"	""
"0000273668"	"0"	"30"	"16"	"57945788"	"57945788"	"subst"	"0.000443277"	"01943"	"CNGB1_000051"	"g.57945788G>A"	""	""	""	"CNGB1(NM_001297.4):c.2370-9C>T, CNGB1(NM_001297.5):c.2370-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57911884G>A"	""	"likely benign"	""
"0000273670"	"0"	"10"	"16"	"57935471"	"57935471"	"subst"	"0.00135639"	"01943"	"CNGB1_000040"	"g.57935471G>T"	""	""	""	"CNGB1(NM_001297.4):c.2853C>A (p.D951E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57901567G>T"	""	"benign"	""
"0000273671"	"0"	"90"	"16"	"57931819"	"57931819"	"subst"	"8.12275E-6"	"01943"	"CNGB1_000039"	"g.57931819C>T"	""	""	""	"CNGB1(NM_001297.4):c.2977-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57897915C>T"	""	"pathogenic"	""
"0000273672"	"0"	"30"	"16"	"57931428"	"57931428"	"subst"	"0.00354056"	"01943"	"CNGB1_000038"	"g.57931428C>T"	""	""	""	"CNGB1(NM_001297.4):c.3115G>A (p.G1039R), CNGB1(NM_001297.5):c.3115G>A (p.G1039R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57897524C>T"	""	"likely benign"	""
"0000273673"	"0"	"30"	"16"	"57996738"	"57996738"	"subst"	"0.0029817"	"01943"	"CNGB1_000076"	"g.57996738G>T"	""	""	""	"CNGB1(NM_001297.4):c.412+8C>A, CNGB1(NM_001297.5):c.412+8C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57962834G>T"	""	"likely benign"	""
"0000273674"	"0"	"30"	"16"	"57991285"	"57991285"	"subst"	"0.000166507"	"01943"	"CNGB1_000071"	"g.57991285C>A"	""	""	""	"CNGB1(NM_001297.4):c.838-4G>T, CNGB1(NM_001297.5):c.838-4G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57957381C>A"	""	"likely benign"	""
"0000338437"	"0"	"10"	"16"	"57921752"	"57921752"	"subst"	"0.306861"	"02327"	"CNGB1_000026"	"g.57921752A>G"	""	""	""	"CNGB1(NM_001297.5):c.3462+7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57887848A>G"	""	"benign"	""
"0000338438"	"0"	"10"	"16"	"57937895"	"57937895"	"subst"	"0.812448"	"02327"	"CNGB1_000044"	"g.57937895G>A"	""	""	""	"CNGB1(NM_001297.5):c.2635-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903991G>A"	""	"benign"	""
"0000338439"	"0"	"10"	"16"	"57949251"	"57949251"	"subst"	"0.495206"	"02327"	"CNGB1_000083"	"g.57949251G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57915347G>A"	""	"benign"	""
"0000338440"	"0"	"10"	"16"	"57951394"	"57951394"	"subst"	"0.271597"	"02327"	"CNGB1_000016"	"g.57951394T>G"	""	""	""	"CNGB1(NM_001297.5):c.1958-14A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57917490T>G"	""	"benign"	""
"0000338441"	"0"	"10"	"16"	"57974240"	"57974240"	"subst"	"0.495003"	"02327"	"CNGB1_000013"	"g.57974240G>A"	""	""	""	"CNGB1(NM_001297.4):c.1122-15C>T, CNGB1(NM_001297.5):c.1122-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57940336G>A"	""	"benign"	""
"0000340252"	"0"	"10"	"16"	"57996932"	"57996932"	"subst"	"0.431186"	"02327"	"CNGB1_000011"	"g.57996932G>A"	""	""	""	"CNGB1(NM_001297.5):c.327C>T (p.G109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57963028G>A"	""	"benign"	""
"0000340666"	"0"	"10"	"16"	"57937856"	"57937856"	"subst"	"0.765266"	"02327"	"CNGB1_000043"	"g.57937856G>C"	""	""	""	"CNGB1(NM_001297.5):c.2664C>G (p.A888=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903952G>C"	""	"benign"	""
"0000340771"	"0"	"10"	"16"	"57921843"	"57921843"	"subst"	"0.020259"	"02327"	"CNGB1_000079"	"g.57921843G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57887939G>A"	""	"benign"	""
"0000341658"	"0"	"10"	"16"	"57996960"	"57996960"	"subst"	"0.781906"	"02327"	"CNGB1_000022"	"g.57996960C>T"	""	""	""	"CNGB1(NM_001297.5):c.299G>A (p.R100H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57963056C>T"	""	"benign"	""
"0000343479"	"0"	"50"	"16"	"57937773"	"57937773"	"subst"	"0.00049959"	"02327"	"CNGB1_000081"	"g.57937773C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57903869C>T"	""	"VUS"	""
"0000343856"	"0"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"02327"	"CNGB1_000004"	"g.57935275T>A"	""	""	""	"CNGB1(NM_001297.5):c.2957A>T (p.N986I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	""
"0000344268"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"02327"	"CNGB1_000030"	"g.57996515C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic"	""
"0000344683"	"0"	"90"	"16"	"57993847"	"57993847"	"subst"	"0"	"02327"	"CNGB1_000085"	"g.57993847G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57959943G>A"	""	"pathogenic"	""
"0000347708"	"0"	"70"	"16"	"58001190"	"58001190"	"subst"	"4.87531E-5"	"02327"	"CNGB1_000087"	"g.58001190T>A"	""	""	""	"CNGB1(NM_001297.4):c.1A>T (p.M1?, p.(Met1?))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57967286T>A"	""	"likely pathogenic"	""
"0000348500"	"0"	"50"	"16"	"57998447"	"57998447"	"subst"	"4.0618E-6"	"02327"	"CNGB1_000086"	"g.57998447G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57964543G>C"	""	"VUS"	""
"0000349837"	"0"	"50"	"16"	"57951339"	"57951339"	"subst"	"0"	"02327"	"CNGB1_000084"	"g.57951339A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57917435A>G"	""	"VUS"	""
"0000358226"	"3"	"70"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"likely pathogenic"	""
"0000477182"	"0"	"50"	"16"	"57918114"	"57918114"	"subst"	"0"	"02591"	"CNGB1_000088"	"g.57918114A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57884210A>G"	""	"VUS"	""
"0000477183"	"0"	"50"	"16"	"57918146"	"57918146"	"subst"	"0"	"02591"	"CNGB1_000089"	"g.57918146G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57884242G>T"	""	"VUS"	""
"0000477184"	"0"	"50"	"16"	"57918336"	"57918336"	"subst"	"8.27726E-5"	"02591"	"CNGB1_000090"	"g.57918336C>T"	"7/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs186853874"	"0"	""	""	"g.57884432C>T"	""	"VUS"	""
"0000477185"	"0"	"50"	"16"	"57921799"	"57921799"	"subst"	"3.65672E-5"	"02591"	"CNGB1_000091"	"g.57921799G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs562161300"	"0"	""	""	"g.57887895G>A"	""	"VUS"	""
"0000477186"	"0"	"50"	"16"	"57921800"	"57921800"	"subst"	"0.000650116"	"02591"	"CNGB1_000092"	"g.57921800C>T"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs201449358"	"0"	""	""	"g.57887896C>T"	""	"VUS"	""
"0000477187"	"0"	"50"	"16"	"57921820"	"57921820"	"subst"	"0"	"02591"	"CNGB1_000093"	"g.57921820G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57887916G>A"	""	"VUS"	""
"0000477188"	"0"	"50"	"16"	"57921823"	"57921823"	"subst"	"4.06157E-5"	"02591"	"CNGB1_000094"	"g.57921823C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs375348116"	"0"	""	""	"g.57887919C>T"	""	"VUS"	""
"0000477189"	"0"	"50"	"16"	"57921881"	"57921881"	"subst"	"0.000629508"	"02591"	"CNGB1_000095"	"g.57921881C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs200242407"	"0"	""	""	"g.57887977C>T"	""	"VUS"	""
"0000477190"	"0"	"50"	"16"	"57921935"	"57921935"	"subst"	"0.0001179"	"02591"	"CNGB1_000096"	"g.57921935C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs376128303"	"0"	""	""	"g.57888031C>T"	""	"VUS"	""
"0000477191"	"0"	"50"	"16"	"57931314"	"57931314"	"subst"	"2.84289E-5"	"02591"	"CNGB1_000097"	"g.57931314G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs201023939"	"0"	""	""	"g.57897410G>A"	""	"VUS"	""
"0000477192"	"0"	"50"	"16"	"57931366"	"57931368"	"del"	"0"	"02591"	"CNGB1_000098"	"g.57931366_57931368del"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57897462_57897464del"	""	"VUS"	""
"0000477193"	"0"	"50"	"16"	"57931394"	"57931394"	"subst"	"4.06141E-6"	"02591"	"CNGB1_000099"	"g.57931394C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57897490C>G"	""	"VUS"	""
"0000477194"	"0"	"50"	"16"	"57935329"	"57935329"	"subst"	"0"	"02591"	"CNGB1_000132"	"g.57935329C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901425C>T"	""	"VUS"	""
"0000477195"	"0"	"10"	"16"	"57935442"	"57935442"	"subst"	"0.0529528"	"02591"	"CNGB1_000100"	"g.57935442G>A"	"9/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs112002818"	"0"	""	""	"g.57901538G>A"	""	"benign"	""
"0000477196"	"0"	"50"	"16"	"57937731"	"57937731"	"subst"	"0"	"02591"	"CNGB1_000101"	"g.57937731A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903827A>G"	""	"VUS"	""
"0000477197"	"0"	"50"	"16"	"57937783"	"57937783"	"subst"	"3.24931E-5"	"02591"	"CNGB1_000102"	"g.57937783C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs570908288"	"0"	""	""	"g.57903879C>T"	""	"VUS"	""
"0000477198"	"0"	"10"	"16"	"57937788"	"57937788"	"subst"	"0.108349"	"02591"	"CNGB1_000019"	"g.57937788T>C"	"107/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs2303785"	"0"	""	""	"g.57903884T>C"	""	"benign"	""
"0000477199"	"0"	"50"	"16"	"57937864"	"57937864"	"subst"	"9.36093E-5"	"02591"	"CNGB1_000103"	"g.57937864C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs758922488"	"0"	""	""	"g.57903960C>T"	""	"VUS"	""
"0000477200"	"0"	"50"	"16"	"57937867"	"57937867"	"subst"	"0"	"02591"	"CNGB1_000104"	"g.57937867C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903963C>A"	""	"VUS"	""
"0000477201"	"0"	"90"	"16"	"57938729"	"57938730"	"ins"	"0"	"02591"	"CNGB1_000105"	"g.57938729_57938730insT"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904825_57904826insT"	""	"pathogenic"	""
"0000477202"	"0"	"50"	"16"	"57938738"	"57938738"	"subst"	"0"	"02591"	"CNGB1_000106"	"g.57938738G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904834G>A"	""	"VUS"	""
"0000477203"	"0"	"50"	"16"	"57938772"	"57938772"	"subst"	"1.62528E-5"	"02591"	"CNGB1_000107"	"g.57938772G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs373592537"	"0"	""	""	"g.57904868G>A"	""	"VUS"	""
"0000477204"	"0"	"90"	"16"	"57946843"	"57946843"	"subst"	"1.21846E-5"	"02591"	"CNGB1_000108"	"g.57946843T>C"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs370288562"	"0"	""	""	"g.57912939T>C"	""	"pathogenic"	""
"0000477205"	"0"	"90"	"16"	"57946899"	"57946899"	"subst"	"1.22029E-5"	"02591"	"CNGB1_000109"	"g.57946899C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs767311166"	"0"	""	""	"g.57912995C>T"	""	"pathogenic"	""
"0000477206"	"3"	"50"	"16"	"57949150"	"57949150"	"subst"	"4.08123E-6"	"02591"	"CNGB1_000110"	"g.57949150T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs768262031"	"0"	""	""	"g.57915246T>C"	""	"VUS"	""
"0000477207"	"0"	"10"	"16"	"57949224"	"57949224"	"subst"	"0.130752"	"02591"	"CNGB1_000017"	"g.57949224G>T"	"29/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs10459809"	"0"	""	""	"g.57915320G>T"	""	"benign"	""
"0000477208"	"0"	"90"	"16"	"57949231"	"57949231"	"del"	"0"	"02591"	"CNGB1_000111"	"g.57949231del"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915327del"	""	"pathogenic"	""
"0000477209"	"0"	"50"	"16"	"57950044"	"57950044"	"subst"	"0.000113709"	"02591"	"CNGB1_000112"	"g.57950044G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs569502373"	"0"	""	""	"g.57916140G>A"	""	"VUS"	""
"0000477210"	"0"	"50"	"16"	"57951272"	"57951272"	"subst"	"8.12222E-6"	"02591"	"CNGB1_000113"	"g.57951272T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs760223178"	"0"	""	""	"g.57917368T>C"	""	"VUS"	""
"0000477211"	"0"	"50"	"16"	"57951324"	"57951324"	"subst"	"4.06128E-6"	"02591"	"CNGB1_000114"	"g.57951324A>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917420A>C"	""	"VUS"	""
"0000477212"	"0"	"50"	"16"	"57954321"	"57954321"	"subst"	"2.84308E-5"	"02591"	"CNGB1_000115"	"g.57954321C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs746847813"	"0"	""	""	"g.57920417C>T"	""	"VUS"	""
"0000477213"	"0"	"50"	"16"	"57957208"	"57957208"	"subst"	"1.22E-5"	"02591"	"CNGB1_000116"	"g.57957208A>C"	"4/1189 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs766409469"	"0"	""	""	"g.57923304A>C"	""	"VUS"	""
"0000477214"	"0"	"10"	"16"	"57957216"	"57957216"	"subst"	"0.0446438"	"02591"	"CNGB1_000014"	"g.57957216A>G"	"1/1185 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs12927214"	"0"	""	""	"g.57923312A>G"	""	"benign"	""
"0000477215"	"0"	"50"	"16"	"57965632"	"57965632"	"subst"	"4.875E-5"	"02591"	"CNGB1_000064"	"g.57965632G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs539534716"	"0"	""	""	"g.57931728G>A"	""	"VUS"	""
"0000477216"	"0"	"50"	"16"	"57965705"	"57965705"	"subst"	"0"	"02591"	"CNGB1_000117"	"g.57965705T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57931801T>C"	""	"VUS"	""
"0000477217"	"0"	"50"	"16"	"57965720"	"57965720"	"subst"	"0.000727128"	"02591"	"CNGB1_000118"	"g.57965720G>T"	"41/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs2303783"	"0"	""	""	"g.57931816G>T"	""	"VUS"	""
"0000477218"	"0"	"50"	"16"	"57965785"	"57965785"	"subst"	"0.000289027"	"02591"	"CNGB1_000119"	"g.57965785G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs564200357"	"0"	""	""	"g.57931881G>T"	""	"VUS"	""
"0000477219"	"0"	"50"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"02591"	"CNGB1_000067"	"g.57974143C>T"	"22/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs140907154"	"0"	""	""	"g.57940239C>T"	""	"VUS"	""
"0000477220"	"0"	"50"	"16"	"57984282"	"57984282"	"subst"	"0"	"02591"	"CNGB1_000120"	"g.57984282C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950378C>A"	""	"VUS"	""
"0000477221"	"0"	"50"	"16"	"57992376"	"57992376"	"subst"	"4.06306E-6"	"02591"	"CNGB1_000121"	"g.57992376C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57958472C>A"	""	"VUS"	""
"0000477222"	"0"	"50"	"16"	"57993841"	"57993841"	"subst"	"0.0165795"	"02591"	"CNGB1_000122"	"g.57993841C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs61745888"	"0"	""	""	"g.57959937C>T"	""	"VUS"	""
"0000477223"	"0"	"50"	"16"	"57993925"	"57993925"	"subst"	"6.69748E-5"	"02591"	"CNGB1_000123"	"g.57993925G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs769302175"	"0"	""	""	"g.57960021G>A"	""	"VUS"	""
"0000477224"	"0"	"50"	"16"	"57993969"	"57993969"	"subst"	"0"	"02591"	"CNGB1_000124"	"g.57993969G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs780237166"	"0"	""	""	"g.57960065G>A"	""	"VUS"	""
"0000477225"	"0"	"50"	"16"	"57996901"	"57996901"	"subst"	"0"	"02591"	"CNGB1_000125"	"g.57996901T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962997T>C"	""	"VUS"	""
"0000477226"	"0"	"10"	"16"	"57996960"	"57996960"	"subst"	"0.781906"	"02591"	"CNGB1_000022"	"g.57996960C>T"	"294/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs13336595"	"0"	""	""	"g.57963056C>T"	""	"benign"	""
"0000477227"	"0"	"10"	"16"	"57998067"	"57998067"	"subst"	"4.06312E-6"	"02591"	"CNGB1_000126"	"g.57998067C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs8055343"	"0"	""	""	"g.57964163C>G"	""	"benign"	""
"0000477228"	"0"	"50"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"02591"	"CNGB1_000127"	"g.57998386C>G"	"5/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236060"	"0"	""	""	"g.57964482C>G"	""	"VUS"	""
"0000477229"	"0"	"50"	"16"	"57998418"	"57998418"	"subst"	"0"	"02591"	"CNGB1_000128"	"g.57998418C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964514C>A"	""	"VUS"	""
"0000477230"	"0"	"50"	"16"	"58001052"	"58001052"	"subst"	"0.000458924"	"02591"	"CNGB1_000129"	"g.58001052C>T"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs78149232"	"0"	""	""	"g.57967148C>T"	""	"VUS"	""
"0000477231"	"0"	"50"	"16"	"58001085"	"58001085"	"subst"	"0"	"02591"	"CNGB1_000130"	"g.58001085C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57967181C>T"	""	"VUS"	""
"0000477232"	"0"	"50"	"16"	"58001145"	"58001145"	"subst"	"2.43712E-5"	"02591"	"CNGB1_000131"	"g.58001145G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs767982458"	"0"	""	""	"g.57967241G>C"	""	"VUS"	""
"0000477598"	"3"	"10"	"16"	"57937788"	"57937788"	"subst"	"0.108349"	"02591"	"CNGB1_000019"	"g.57937788T>C"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs2303785"	"0"	""	""	"g.57903884T>C"	""	"benign"	""
"0000477599"	"3"	"10"	"16"	"57957216"	"57957216"	"subst"	"0.0446438"	"02591"	"CNGB1_000014"	"g.57957216A>G"	"21/1185 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs12927214"	"0"	""	""	"g.57923312A>G"	""	"benign"	""
"0000477600"	"3"	"50"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"02591"	"CNGB1_000067"	"g.57974143C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs140907154"	"0"	""	""	"g.57940239C>T"	""	"VUS"	""
"0000477601"	"3"	"10"	"16"	"57996960"	"57996960"	"subst"	"0.781906"	"02591"	"CNGB1_000022"	"g.57996960C>T"	"875/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs13336595"	"0"	""	""	"g.57963056C>T"	""	"benign"	""
"0000477602"	"3"	"50"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"02591"	"CNGB1_000127"	"g.57998386C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236060"	"0"	""	""	"g.57964482C>G"	""	"VUS"	""
"0000558633"	"0"	"50"	"16"	"57918096"	"57918096"	"subst"	"0.000245078"	"01943"	"CNGB1_000133"	"g.57918096G>A"	""	""	""	"CNGB1(NM_001297.4):c.3728C>T (p.P1243L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57884192G>A"	""	"VUS"	""
"0000558634"	"0"	"30"	"16"	"57918240"	"57918240"	"subst"	"0.00204499"	"01943"	"CNGB1_000036"	"g.57918240G>C"	""	""	""	"CNGB1(NM_001297.4):c.3584C>G (p.S1195C), CNGB1(NM_001297.5):c.3584C>G (p.S1195C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57884336G>C"	""	"likely benign"	""
"0000558635"	"0"	"30"	"16"	"57918264"	"57918264"	"subst"	"0.00117645"	"01943"	"CNGB1_000037"	"g.57918264C>T"	""	""	""	"CNGB1(NM_001297.4):c.3560G>A (p.R1187Q), CNGB1(NM_001297.5):c.3560G>A (p.R1187Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57884360C>T"	""	"likely benign"	""
"0000558636"	"0"	"10"	"16"	"57918350"	"57918350"	"subst"	"4.1435E-6"	"02330"	"CNGB1_000134"	"g.57918350C>A"	""	""	""	"CNGB1(NM_001297.5):c.3474G>T (p.S1158=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57884446C>A"	""	"benign"	""
"0000558637"	"0"	"30"	"16"	"57921800"	"57921800"	"subst"	"0.000650116"	"02330"	"CNGB1_000092"	"g.57921800C>T"	""	""	""	"CNGB1(NM_001297.5):c.3421G>A (p.A1141T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57887896C>T"	""	"likely benign"	""
"0000558638"	"0"	"50"	"16"	"57921823"	"57921823"	"subst"	"4.06157E-5"	"02330"	"CNGB1_000094"	"g.57921823C>T"	""	""	""	"CNGB1(NM_001297.4):c.3398G>A (p.R1133Q), CNGB1(NM_001297.5):c.3398G>A (p.R1133Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57887919C>T"	""	"VUS"	""
"0000558639"	"0"	"50"	"16"	"57921823"	"57921823"	"subst"	"4.06157E-5"	"01943"	"CNGB1_000094"	"g.57921823C>T"	""	""	""	"CNGB1(NM_001297.4):c.3398G>A (p.R1133Q), CNGB1(NM_001297.5):c.3398G>A (p.R1133Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57887919C>T"	""	"VUS"	""
"0000558641"	"0"	"50"	"16"	"57921966"	"57921966"	"subst"	"8.15614E-6"	"01943"	"CNGB1_000135"	"g.57921966T>A"	""	""	""	"CNGB1(NM_001297.4):c.3255A>T (p.R1085S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57888062T>A"	""	"VUS"	""
"0000558642"	"0"	"10"	"16"	"57931283"	"57931283"	"subst"	"8.12572E-6"	"02330"	"CNGB1_000136"	"g.57931283G>A"	""	""	""	"CNGB1(NM_001297.5):c.3242+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57897379G>A"	""	"benign"	""
"0000558643"	"0"	"50"	"16"	"57931353"	"57931353"	"subst"	"0"	"02330"	"CNGB1_000137"	"g.57931353C>T"	""	""	""	"CNGB1(NM_001297.5):c.3190G>A (p.E1064K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57897449C>T"	""	"VUS"	""
"0000558644"	"0"	"10"	"16"	"57931396"	"57931396"	"subst"	"0.00270481"	"02330"	"CNGB1_000138"	"g.57931396G>A"	""	""	""	"CNGB1(NM_001297.5):c.3147C>T (p.H1049=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57897492G>A"	""	"benign"	""
"0000558645"	"0"	"30"	"16"	"57931428"	"57931428"	"subst"	"0.00354056"	"02330"	"CNGB1_000038"	"g.57931428C>T"	""	""	""	"CNGB1(NM_001297.4):c.3115G>A (p.G1039R), CNGB1(NM_001297.5):c.3115G>A (p.G1039R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57897524C>T"	""	"likely benign"	""
"0000558646"	"0"	"50"	"16"	"57935330"	"57935330"	"subst"	"2.03056E-5"	"01943"	"CNGB1_000139"	"g.57935330G>A"	""	""	""	"CNGB1(NM_001297.4):c.2902C>T (p.R968W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57901426G>A"	""	"VUS"	""
"0000558650"	"0"	"10"	"16"	"57938630"	"57938630"	"subst"	"0.000129962"	"02330"	"CNGB1_000143"	"g.57938630C>T"	""	""	""	"CNGB1(NM_001297.4):c.2634+8G>A, CNGB1(NM_001297.5):c.2634+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904726C>T"	""	"benign"	""
"0000558651"	"0"	"30"	"16"	"57938630"	"57938630"	"subst"	"0.000129962"	"01943"	"CNGB1_000143"	"g.57938630C>T"	""	""	""	"CNGB1(NM_001297.4):c.2634+8G>A, CNGB1(NM_001297.5):c.2634+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904726C>T"	""	"likely benign"	""
"0000558652"	"0"	"50"	"16"	"57938643"	"57938643"	"subst"	"5.68556E-5"	"02330"	"CNGB1_000144"	"g.57938643C>T"	""	""	""	"CNGB1(NM_001297.5):c.2629G>A (p.G877R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904739C>T"	""	"VUS"	""
"0000558653"	"0"	"90"	"16"	"57938733"	"57938733"	"del"	"0"	"01943"	"CNGB1_000145"	"g.57938733del"	""	""	""	"CNGB1(NM_001297.4):c.2544delG (p.L849Cfs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904829del"	""	"pathogenic"	""
"0000558654"	"0"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"02330"	"CNGB1_000082"	"g.57938733dup"	""	""	""	"CNGB1(NM_001297.4):c.2544dupG (p.L849Afs*3), CNGB1(NM_001297.5):c.2544dupG (p.L849Afs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904829dup"	""	"pathogenic"	""
"0000558655"	"0"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"01943"	"CNGB1_000082"	"g.57938733dup"	""	""	""	"CNGB1(NM_001297.4):c.2544dupG (p.L849Afs*3), CNGB1(NM_001297.5):c.2544dupG (p.L849Afs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904829dup"	""	"pathogenic"	""
"0000558656"	"0"	"10"	"16"	"57945674"	"57945674"	"subst"	"0.000463076"	"02330"	"CNGB1_000146"	"g.57945674G>A"	""	""	""	"CNGB1(NM_001297.4):c.2475C>T (p.Y825=), CNGB1(NM_001297.5):c.2475C>T (p.Y825=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57911770G>A"	""	"benign"	""
"0000558657"	"0"	"30"	"16"	"57953079"	"57953079"	"subst"	"1.21836E-5"	"01943"	"CNGB1_000147"	"g.57953079G>A"	""	""	""	"CNGB1(NM_001297.4):c.1881C>T (p.C627=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57919175G>A"	""	"likely benign"	""
"0000558659"	"0"	"30"	"16"	"57957194"	"57957194"	"subst"	"0.00344785"	"02330"	"CNGB1_000149"	"g.57957194G>A"	""	""	""	"CNGB1(NM_001297.4):c.1626C>T (p.T542=), CNGB1(NM_001297.5):c.1626C>T (p.T542=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57923290G>A"	""	"likely benign"	""
"0000558660"	"0"	"30"	"16"	"57957194"	"57957194"	"subst"	"0.00344785"	"01943"	"CNGB1_000149"	"g.57957194G>A"	""	""	""	"CNGB1(NM_001297.4):c.1626C>T (p.T542=), CNGB1(NM_001297.5):c.1626C>T (p.T542=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57923290G>A"	""	"likely benign"	""
"0000558661"	"0"	"10"	"16"	"57965773"	"57965773"	"subst"	"0.0086528"	"02330"	"CNGB1_000150"	"g.57965773G>A"	""	""	""	"CNGB1(NM_001297.4):c.1382C>T (p.T461M), CNGB1(NM_001297.5):c.1382C>T (p.T461M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57931869G>A"	""	"benign"	""
"0000558662"	"0"	"30"	"16"	"57965773"	"57965773"	"subst"	"0.0086528"	"01943"	"CNGB1_000150"	"g.57965773G>A"	""	""	""	"CNGB1(NM_001297.4):c.1382C>T (p.T461M), CNGB1(NM_001297.5):c.1382C>T (p.T461M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57931869G>A"	""	"likely benign"	""
"0000558663"	"0"	"50"	"16"	"57974206"	"57974206"	"subst"	"0"	"02330"	"CNGB1_000151"	"g.57974206C>T"	""	""	""	"CNGB1(NM_001297.5):c.1141G>A (p.V381M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57940302C>T"	""	"VUS"	""
"0000558664"	"0"	"10"	"16"	"57984323"	"57984323"	"subst"	"0"	"02330"	"CNGB1_000152"	"g.57984323A>G"	""	""	""	"CNGB1(NM_001297.5):c.996T>C (p.A332=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57950419A>G"	""	"benign"	""
"0000558665"	"0"	"30"	"16"	"57993978"	"57993978"	"subst"	"0"	"01943"	"CNGB1_000153"	"g.57993978C>T"	""	""	""	"CNGB1(NM_001297.4):c.584-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57960074C>T"	""	"likely benign"	""
"0000558666"	"0"	"50"	"16"	"57994799"	"57994799"	"subst"	"0"	"01943"	"CNGB1_000154"	"g.57994799A>G"	""	""	""	"CNGB1(NM_001297.4):c.479T>C (p.L160P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57960895A>G"	""	"VUS"	""
"0000558667"	"0"	"10"	"16"	"57996462"	"57996462"	"subst"	"0.00056874"	"02330"	"CNGB1_000155"	"g.57996462G>A"	""	""	""	"CNGB1(NM_001297.5):c.458+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57962558G>A"	""	"benign"	""
"0000558668"	"0"	"90"	"16"	"58001190"	"58001190"	"subst"	"4.87531E-5"	"01943"	"CNGB1_000087"	"g.58001190T>A"	""	""	""	"CNGB1(NM_001297.4):c.1A>T (p.M1?, p.(Met1?))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57967286T>A"	""	"pathogenic"	""
"0000616058"	"0"	"30"	"16"	"57918107"	"57918107"	"subst"	"0.00014306"	"02330"	"CNGB1_000156"	"g.57918107C>A"	""	""	""	"CNGB1(NM_001297.5):c.3717G>T (p.S1239=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57884203C>A"	""	"likely benign"	""
"0000616059"	"0"	"50"	"16"	"57918141"	"57918141"	"subst"	"0"	"01943"	"CNGB1_000157"	"g.57918141C>G"	""	""	""	"CNGB1(NM_001297.4):c.3683G>C (p.S1228T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57884237C>G"	""	"VUS"	""
"0000616060"	"0"	"50"	"16"	"57938771"	"57938771"	"subst"	"1.21884E-5"	"01943"	"CNGB1_000049"	"g.57938771C>A"	""	""	""	"CNGB1(NM_001297.4):c.2501G>T (p.R834L), CNGB1(NM_001297.5):c.2501G>T (p.R834L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57904867C>A"	""	"VUS"	""
"0000616061"	"0"	"50"	"16"	"57950041"	"57950041"	"subst"	"0.000686317"	"02327"	"CNGB1_000159"	"g.57950041G>A"	""	""	""	"CNGB1(NM_001297.4):c.2209C>T (p.R737C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57916137G>A"	""	"VUS"	""
"0000616062"	"0"	"50"	"16"	"57973444"	"57973444"	"subst"	"0"	"01943"	"CNGB1_000160"	"g.57973444G>T"	""	""	""	"CNGB1(NM_001297.4):c.1262C>A (p.A421D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57939540G>T"	""	"VUS"	""
"0000623501"	"0"	"50"	"16"	"57935455"	"57935455"	"subst"	"4.46682E-5"	"01943"	"CNGB1_000158"	"g.57935455C>T"	""	""	""	"CNGB1(NM_001297.4):c.2869G>A (p.V957I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57901551C>T"	""	"VUS"	""
"0000649366"	"1"	"50"	"16"	"57917787"	"57917787"	"subst"	"0"	"03575"	"CNGB1_000161"	"g.57917787A>G"	"10/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"10 heterozygous, no homozygous; {DB:CLININrs116564376}"	"Germline"	""	"rs116564376"	"0"	""	""	"g.57883883A>G"	""	"VUS"	""
"0000649367"	"1"	"50"	"16"	"57921843"	"57921843"	"subst"	"0.020259"	"03575"	"CNGB1_000079"	"g.57921843G>A"	"183/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"183 heterozygous; {DB:CLININrs11867123}"	"Germline"	""	"rs11867123"	"0"	""	""	"g.57887939G>A"	""	"VUS"	""
"0000649368"	"1"	"50"	"16"	"57931428"	"57931428"	"subst"	"0.00354056"	"03575"	"CNGB1_000038"	"g.57931428C>T"	"13/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 13 heterozygous; {DB:CLININrs148999583}"	"Germline"	""	"rs148999583"	"0"	""	""	"g.57897524C>T"	""	"VUS"	""
"0000649369"	"1"	"30"	"16"	"57935470"	"57935470"	"subst"	"0.0108068"	"03575"	"CNGB1_000162"	"g.57935470C>T"	"9/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"9 heterozygous, no homozygous; {DB:CLININrs79889567}"	"Germline"	""	"rs79889567"	"0"	""	""	"g.57901566C>T"	""	"likely benign"	""
"0000649370"	"1"	"30"	"16"	"57954448"	"57954448"	"subst"	"0.0365536"	"03575"	"CNGB1_000148"	"g.57954448A>G"	"46/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"46 heterozygous; {DB:CLININrs2161703}"	"Germline"	""	"rs2161703"	"0"	""	""	"g.57920544A>G"	""	"likely benign"	""
"0000649371"	"1"	"30"	"16"	"57957216"	"57957216"	"subst"	"0.0446438"	"03575"	"CNGB1_000014"	"g.57957216A>G"	"193/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"193 heterozygous; {DB:CLININrs12927214}"	"Germline"	""	"rs12927214"	"0"	""	""	"g.57923312A>G"	""	"likely benign"	""
"0000649372"	"1"	"50"	"16"	"57965773"	"57965773"	"subst"	"0.0086528"	"03575"	"CNGB1_000150"	"g.57965773G>A"	"6/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs147593839}"	"Germline"	""	"rs147593839"	"0"	""	""	"g.57931869G>A"	""	"VUS"	""
"0000649373"	"1"	"50"	"16"	"57984441"	"57984441"	"subst"	"0.000674276"	"03575"	"CNGB1_000070"	"g.57984441C>T"	"12/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"12 heterozygous, no homozygous; {DB:CLININrs146170855}"	"Germline"	""	"rs146170855"	"0"	""	""	"g.57950537C>T"	""	"VUS"	""
"0000649374"	"1"	"50"	"16"	"58001086"	"58001086"	"subst"	"0.0198954"	"03575"	"CNGB1_000021"	"g.58001086C>T"	"39/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"39 heterozygous, no homozygous; {DB:CLININrs61997250}"	"Germline"	""	"rs61997250"	"0"	""	""	"g.57967182C>T"	""	"VUS"	""
"0000657893"	"0"	"50"	"16"	"57931421"	"57931421"	"subst"	"8.12803E-5"	"02327"	"CNGB1_000163"	"g.57931421C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57897517C>T"	""	"VUS"	""
"0000657894"	"0"	"30"	"16"	"57993922"	"57993922"	"subst"	"1.66185E-5"	"01943"	"CNGB1_000164"	"g.57993922C>T"	""	""	""	"CNGB1(NM_001297.4):c.631G>A (p.E211K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57960018C>T"	""	"likely benign"	""
"0000669343"	"3"	"50"	"16"	"57921843"	"57921843"	"subst"	"0.020259"	"03575"	"CNGB1_000079"	"g.57921843G>A"	"9/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"9 homozygous; {DB:CLININrs11867123}"	"Germline"	""	"rs11867123"	"0"	""	""	"g.57887939G>A"	""	"VUS"	""
"0000669344"	"3"	"50"	"16"	"57931428"	"57931428"	"subst"	"0.00354056"	"03575"	"CNGB1_000038"	"g.57931428C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs148999583}"	"Germline"	""	"rs148999583"	"0"	""	""	"g.57897524C>T"	""	"VUS"	""
"0000669345"	"3"	"30"	"16"	"57954448"	"57954448"	"subst"	"0.0365536"	"03575"	"CNGB1_000148"	"g.57954448A>G"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs2161703}"	"Germline"	""	"rs2161703"	"0"	""	""	"g.57920544A>G"	""	"likely benign"	""
"0000669346"	"3"	"30"	"16"	"57957216"	"57957216"	"subst"	"0.0446438"	"03575"	"CNGB1_000014"	"g.57957216A>G"	"7/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 homozygous; {DB:CLININrs12927214}"	"Germline"	""	"rs12927214"	"0"	""	""	"g.57923312A>G"	""	"likely benign"	""
"0000680617"	"0"	"30"	"16"	"57938632"	"57938632"	"subst"	"8.12269E-6"	"01943"	"CNGB1_000165"	"g.57938632C>G"	""	""	""	"CNGB1(NM_001297.4):c.2634+6G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000685145"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00004"	"CNGB1_000004"	"g.57935275T>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685146"	"0"	"70"	"16"	"57938643"	"57938643"	"subst"	"5.68556E-5"	"00004"	"CNGB1_000144"	"g.57938643C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685147"	"0"	"90"	"16"	"57946883"	"57946883"	"subst"	"0"	"00004"	"CNGB1_000166"	"g.57946883C>T"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685148"	"3"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00004"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685149"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00004"	"CNGB1_000030"	"g.57996515C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000686007"	"3"	"90"	"16"	"57937760"	"57937760"	"subst"	"8.12387E-6"	"00006"	"CNGB1_000167"	"g.57937760C>T"	""	"{PMID:Beryozkin 2015:26306921}, {PMID:Kimchi 2018:29276052}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000692096"	"0"	"50"	"16"	"57937756"	"57937756"	"subst"	"0.000121867"	"01943"	"CNGB1_000168"	"g.57937756C>T"	""	""	""	"CNGB1(NM_001297.4):c.2764G>A (p.E922K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692097"	"0"	"50"	"16"	"57950041"	"57950041"	"subst"	"0.000686317"	"01943"	"CNGB1_000159"	"g.57950041G>A"	""	""	""	"CNGB1(NM_001297.4):c.2209C>T (p.R737C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692098"	"0"	"50"	"16"	"57954351"	"57954351"	"subst"	"0"	"01943"	"CNGB1_000169"	"g.57954351T>C"	""	""	""	"CNGB1(NM_001297.4):c.1741A>G (p.K581E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692099"	"0"	"30"	"16"	"57974162"	"57974162"	"subst"	"0.000109671"	"01943"	"CNGB1_000170"	"g.57974162G>A"	""	""	""	"CNGB1(NM_001297.4):c.1185C>T (p.T395=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692100"	"0"	"10"	"16"	"57984295"	"57984295"	"subst"	"0.000292393"	"02330"	"CNGB1_000171"	"g.57984295T>C"	""	""	""	"CNGB1(NM_001297.5):c.1024A>G (p.K342E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000692101"	"0"	"10"	"16"	"57992368"	"57992368"	"subst"	"8.12493E-6"	"02330"	"CNGB1_000172"	"g.57992368G>A"	""	""	""	"CNGB1(NM_001297.5):c.783C>T (p.H261=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000708544"	"0"	"90"	"16"	"57937761"	"57937761"	"subst"	"0"	"01807"	"CNGB1_000173"	"g.57937761C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000710321"	"1"	"50"	"16"	"57937864"	"57937864"	"subst"	"9.36093E-5"	"00006"	"CNGB1_000103"	"g.57937864C>T"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903960C>T"	""	"VUS"	""
"0000710322"	"1"	"50"	"16"	"57996461"	"57996461"	"subst"	"0"	"00006"	"CNGB1_000174"	"g.57996461G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962557G>A"	""	"VUS"	""
"0000713267"	"0"	"70"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"00000"	"CNGB1_000006"	"g.57984367G>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57984367G>A ENST00000251102.8:c.952C>T (Gln318Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000713276"	"0"	"90"	"16"	"57993889"	"57993889"	"subst"	"0"	"00000"	"CNGB1_000001"	"g.57993889G>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57993889G>A ENST00000251102.8:c.664C>T (Gln222Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713295"	"0"	"90"	"16"	"57931402"	"57931405"	"dup"	"0"	"00000"	"CNGB1_000005"	"g.57931402_57931405dup"	""	"{PMID:Carss 2017:28041643}"	""	"ENST00000251102.8:c.3139_3142dupGTGG"	""	"Germline"	""	""	"0"	""	""	"g.57897498_57897501dup"	""	"pathogenic (recessive)"	""
"0000713300"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57935275T>A ENST00000251102.8:c.2957A>T (Asn986Ile)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713304"	"3"	"90"	"16"	"57993790"	"57993790"	"subst"	"0"	"00000"	"CNGB1_000003"	"g.57993790A>T"	""	"{PMID:Carss 2017:28041643}"	""	"16:57993790A>T ENST00000251102.8:c.761+2T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713321"	"3"	"90"	"16"	"57950065"	"57950065"	"subst"	"4.06101E-6"	"00000"	"CNGB1_000008"	"g.57950065G>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57950065G>A ENST00000251102.8:c.2185C>T (Arg729Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713431"	"3"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Carss 2017:28041643}"	""	"16:57996515C>T ENST00000251102.8:c.413-1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713482"	"0"	"90"	"16"	"57931815"	"57931815"	"subst"	"0"	"00000"	"CNGB1_000176"	"g.57931815C>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57931815C>A ENST00000251102.8:c.2980G>T (Glu994Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713599"	"3"	"90"	"16"	"57949172"	"57949172"	"subst"	"1.2208E-5"	"00000"	"CNGB1_000178"	"g.57949172C>T"	""	"{PMID:Carss 2017:28041643}"	""	"16:57949172C>T ENST00000251102.8:c.2285G>A (Arg762His)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713693"	"0"	"90"	"16"	"57998062"	"57998062"	"subst"	"0"	"00000"	"CNGB1_000002"	"g.57998062G>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57998062G>A ENST00000251102.8:c.262C>T (Gln88Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713702"	"0"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Carss 2017:28041643}"	""	"16:57935275T>A ENST00000251102.8:c.2957A>T (Asn986Ile)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713802"	"0"	"90"	"16"	"57937844"	"57937844"	"subst"	"0"	"00000"	"CNGB1_000177"	"g.57937844G>T"	""	"{PMID:Carss 2017:28041643}"	""	"16:57937844G>T ENST00000251102.8:c.2676C>A (Tyr892Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000725877"	"0"	"50"	"16"	"57935297"	"57935297"	"subst"	"0.00016246"	"01943"	"CNGB1_000179"	"g.57935297G>A"	""	""	""	"CNGB1(NM_001297.4):c.2935C>T (p.R979C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725878"	"0"	"30"	"16"	"57945674"	"57945674"	"subst"	"0.000463076"	"01943"	"CNGB1_000146"	"g.57945674G>A"	""	""	""	"CNGB1(NM_001297.4):c.2475C>T (p.Y825=), CNGB1(NM_001297.5):c.2475C>T (p.Y825=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725879"	"0"	"50"	"16"	"57965632"	"57965632"	"subst"	"4.875E-5"	"01943"	"CNGB1_000064"	"g.57965632G>A"	""	""	""	"CNGB1(NM_001297.4):c.1523C>T (p.S508L), CNGB1(NM_001297.5):c.1523C>T (p.S508L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725880"	"0"	"30"	"16"	"57974168"	"57974168"	"subst"	"0.000133827"	"01943"	"CNGB1_000068"	"g.57974168G>A"	""	""	""	"CNGB1(NM_001297.4):c.1179C>T (p.D393=), CNGB1(NM_001297.5):c.1179C>T (p.D393=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725881"	"0"	"50"	"16"	"57974188"	"57974188"	"subst"	"0"	"01943"	"CNGB1_000180"	"g.57974188C>T"	""	""	""	"CNGB1(NM_001297.4):c.1159G>A (p.V387M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725882"	"0"	"50"	"16"	"57993958"	"57993958"	"subst"	"0.000307228"	"01943"	"CNGB1_000182"	"g.57993958G>A"	""	""	""	"CNGB1(NM_001297.4):c.595C>T (p.R199C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725883"	"0"	"50"	"16"	"57998092"	"57998092"	"subst"	"0.000479511"	"01943"	"CNGB1_000183"	"g.57998092C>T"	""	""	""	"CNGB1(NM_001297.4):c.232G>A (p.A78T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729752"	"3"	"90"	"16"	"57984446"	"57984446"	"subst"	"0"	"00000"	"CNGB1_000181"	"g.57984446T>G"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950542T>G"	""	"pathogenic"	""
"0000731497"	"1"	"50"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"VUS"	""
"0000731517"	"0"	"50"	"16"	"57951242"	"57951242"	"subst"	"0"	"00000"	"CNGB1_000185"	"g.57951242T>C"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917338T>C"	""	"VUS"	""
"0000731519"	"0"	"50"	"16"	"57937839"	"57937839"	"subst"	"0.000455037"	"00000"	"CNGB1_000184"	"g.57937839C>T"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903935C>T"	""	"VUS"	""
"0000731562"	"1"	"90"	"16"	"57974160"	"57974160"	"subst"	"0"	"00000"	"CNGB1_000187"	"g.57974160C>T"	""	"{PMID:Comander 2017:28981474}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57940256C>T"	""	"pathogenic"	""
"0000731575"	"2"	"90"	"16"	"57954286"	"57954286"	"subst"	"2.03161E-5"	"00000"	"CNGB1_000186"	"g.57954286C>T"	""	"{PMID:Comander 2017:28981474}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57920382C>T"	""	"pathogenic"	""
"0000732480"	"0"	"50"	"16"	"57937839"	"57937839"	"subst"	"0.000455037"	"00000"	"CNGB1_000184"	"g.57937839C>T"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903935C>T"	""	"VUS"	""
"0000732490"	"0"	"50"	"16"	"57998443"	"57998443"	"subst"	"3.25018E-5"	"00000"	"CNGB1_000190"	"g.57998443G>A"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964539G>A"	""	"VUS"	""
"0000732585"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs201162411"	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000733050"	"1"	"70"	"16"	"57954361"	"57954362"	"ins"	"0"	"00000"	"CNGB1_000189"	"g.57954361_57954362insG"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57920457_57920458insG"	""	"likely pathogenic"	""
"0000733051"	"1"	"70"	"16"	"57938733"	"57938733"	"dup"	"0"	"00000"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Stone 2017:28559085}"	""	"2538_2539insG"	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"likely pathogenic"	""
"0000733520"	"2"	"70"	"16"	"57931402"	"57931405"	"dup"	"0"	"00000"	"CNGB1_000005"	"g.57931402_57931405dup"	""	"{PMID:Stone 2017:28559085}"	""	"3142_3143insGTGG"	""	"Germline"	""	""	"0"	""	""	"g.57897498_57897501dup"	""	"likely pathogenic"	""
"0000733521"	"2"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000734409"	"3"	"90"	"16"	"57949164"	"57949164"	"subst"	"2.03436E-5"	"00000"	"CNGB1_000188"	"g.57949164G>A"	""	"{PMID:Habibi 2016:27874104}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915260G>A"	""	"pathogenic (recessive)"	""
"0000735186"	"3"	"30"	"16"	"57938758"	"57938758"	"subst"	"0.00681955"	"00000"	"CNGB1_000191"	"g.57938758A>G"	""	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}"	""	""	""	"Germline"	""	"rs370767664"	"0"	""	""	"g.57904854A>G"	""	"likely benign"	""
"0000735609"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic"	""
"0000735731"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic"	""
"0000736200"	"3"	"90"	"16"	"57984428"	"57984449"	"dup"	"0"	"00000"	"CNGB1_000192"	"g.57984428_57984449dup"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950524_57950545dup"	""	"pathogenic"	""
"0000736201"	"1"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	""
"0000736202"	"1"	"70"	"16"	"57938746"	"57938746"	"subst"	"0.000207135"	"00000"	"CNGB1_000048"	"g.57938746G>A"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904842G>A"	""	"likely pathogenic (recessive)"	""
"0000736203"	"3"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"pathogenic"	""
"0000736255"	"2"	"90"	"16"	"57984428"	"57984449"	"dup"	"0"	"00000"	"CNGB1_000192"	"g.57984428_57984449dup"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950524_57950545dup"	""	"pathogenic"	""
"0000736256"	"2"	"90"	"16"	"57951185"	"57951185"	"subst"	"0.000126291"	"00000"	"CNGB1_000054"	"g.57951185C>G"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917281C>G"	""	"pathogenic"	""
"0000736827"	"0"	"50"	"16"	"57983289"	"57983291"	"dup"	"0"	"00000"	"CNGB1_000194"	"g.57983289_57983291dup"	"4/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	"rs374653770"	"0"	""	""	"g.57949385_57949387dup"	""	"VUS"	""
"0000736828"	"0"	"50"	"16"	"57954424"	"57954435"	"del"	"0"	"00000"	"CNGB1_000193"	"g.57954424_57954435del"	"1/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	"rs769138379"	"0"	""	""	"g.57920520_57920531del"	""	"VUS"	""
"0000760034"	"0"	"50"	"16"	"57937773"	"57937773"	"subst"	"0.00049959"	"00000"	"CNGB1_000081"	"g.57937773C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903869C>T"	""	"VUS"	""
"0000760251"	"0"	"50"	"16"	"57998062"	"57998062"	"subst"	"0"	"00000"	"CNGB1_000002"	"g.57998062G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964158G>A"	""	"VUS"	""
"0000760257"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000760305"	"0"	"50"	"16"	"57935339"	"57935339"	"subst"	"0"	"00000"	"CNGB1_000195"	"g.57935339C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901435C>T"	""	"VUS"	""
"0000760347"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000760402"	"0"	"50"	"16"	"57937839"	"57937839"	"subst"	"0.000455037"	"00000"	"CNGB1_000184"	"g.57937839C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903935C>T"	""	"VUS"	""
"0000760403"	"0"	"50"	"16"	"57951242"	"57951242"	"subst"	"0"	"00000"	"CNGB1_000185"	"g.57951242T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917338T>C"	""	"VUS"	""
"0000760471"	"0"	"50"	"16"	"57938733"	"57938733"	"dup"	"0"	"00000"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Ellingford 2016:27208204}"	""	"2544dupG"	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"VUS"	""
"0000760489"	"0"	"50"	"16"	"57965773"	"57965773"	"subst"	"0.0086528"	"00000"	"CNGB1_000150"	"g.57965773G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57931869G>A"	""	"VUS"	""
"0000764053"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Perez-Carro 2016:26806561}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000764062"	"1"	"70"	"16"	"57938632"	"57938632"	"subst"	"5.68588E-5"	"00000"	"CNGB1_000196"	"g.57938632C>T"	""	"{PMID:Perez-Carro 2016:26806561}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.57904728C>T"	""	"likely pathogenic"	""
"0000764132"	"0"	"30"	"16"	"57962234"	"57962234"	"subst"	"0"	"04043"	"CNGB1_000197"	"g.57962234A>C"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57928330A>C"	""	"likely benign"	""
"0000765555"	"3"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00000"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Ge 2015:26667666}"	""	"3150delG"	""	"Germline"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic"	""
"0000765556"	"1"	"90"	"16"	"57935519"	"57935519"	"del"	"8.12783E-6"	"00000"	"CNGB1_000199"	"g.57935519del"	""	"{PMID:Ge 2015:26667666}"	""	"2805delG"	""	"Germline"	""	""	"0"	""	""	"g.57901615del"	""	"pathogenic"	""
"0000765595"	"2"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00000"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Ge 2015:26667666}"	""	"2544_2545insG"	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic"	""
"0000765849"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000765852"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000765873"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000765885"	"0"	"70"	"16"	"57949163"	"57949163"	"subst"	"0"	"00000"	"CNGB1_000200"	"g.57949163C>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915259C>A"	""	"likely pathogenic"	""
"0000766038"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766039"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766040"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766041"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766042"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766043"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766044"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766045"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000766046"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"01243"	"CNGB1_000028"	"g.57949173G>A"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000784149"	"0"	"50"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"00000"	"CNGB1_000067"	"g.57974143C>T"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs140907154"	"0"	""	""	"g.57940239C>T"	""	"VUS"	""
"0000784152"	"0"	"50"	"16"	"57937888"	"57937888"	"subst"	"0"	"00000"	"CNGB1_000204"	"g.57937888G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903984G>A"	""	"VUS"	""
"0000784219"	"1"	"90"	"16"	"57946842"	"57946842"	"subst"	"8.12328E-6"	"00000"	"CNGB1_000205"	"g.57946842G>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57912938G>T"	""	"pathogenic (recessive)"	""
"0000784235"	"0"	"70"	"16"	"57996967"	"57996967"	"subst"	"0.000114467"	"00000"	"CNGB1_000210"	"g.57996967G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57963063G>A"	""	"likely pathogenic (recessive)"	""
"0000784265"	"0"	"70"	"16"	"57957231"	"57957231"	"subst"	"0.000430954"	"00000"	"CNGB1_000027"	"g.57957231G>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs201553871"	"0"	""	""	"g.57923327G>C"	""	"likely pathogenic (recessive)"	""
"0000784293"	"0"	"50"	"16"	"57951240"	"57951240"	"subst"	"0.000150281"	"00000"	"CNGB1_000207"	"g.57951240G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs181974243"	"0"	""	""	"g.57917336G>A"	""	"VUS"	""
"0000784296"	"0"	"50"	"16"	"57950082"	"57950082"	"subst"	"1.62442E-5"	"00000"	"CNGB1_000206"	"g.57950082G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57916178G>A"	""	"VUS"	""
"0000784297"	"0"	"50"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"00000"	"CNGB1_000067"	"g.57974143C>T"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs140907154"	"0"	""	""	"g.57940239C>T"	""	"VUS"	""
"0000784307"	"0"	"70"	"16"	"57996738"	"57996738"	"subst"	"0.0029817"	"00000"	"CNGB1_000076"	"g.57996738G>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs185727761"	"0"	""	""	"g.57962834G>T"	""	"likely pathogenic (recessive)"	""
"0000784327"	"0"	"70"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"00000"	"CNGB1_000067"	"g.57974143C>T"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs140907154"	"0"	""	""	"g.57940239C>T"	""	"likely pathogenic (recessive)"	""
"0000784328"	"0"	"70"	"16"	"57957189"	"57957189"	"subst"	"0.000346167"	"00000"	"CNGB1_000062"	"g.57957189G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs145234666"	"0"	""	""	"g.57923285G>A"	""	"likely pathogenic (recessive)"	""
"0000784343"	"0"	"70"	"16"	"57991265"	"57991273"	"del"	"0.000146198"	"00000"	"CNGB1_000209"	"g.57991265_57991273del"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.846_854del9"	""	"Germline"	""	""	"0"	""	""	"g.57957361_57957369del"	""	"likely pathogenic (recessive)"	""
"0000784347"	"0"	"70"	"16"	"57937870"	"57937870"	"subst"	"1.22059E-5"	"00000"	"CNGB1_000203"	"g.57937870C>T"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs183620639"	"0"	""	""	"g.57903966C>T"	""	"likely pathogenic (recessive)"	""
"0000784374"	"0"	"70"	"16"	"57957231"	"57957231"	"subst"	"0.000430954"	"00000"	"CNGB1_000027"	"g.57957231G>C"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs201553871"	"0"	""	""	"g.57923327G>C"	""	"likely pathogenic (recessive)"	""
"0000784379"	"0"	"70"	"16"	"57918336"	"57918336"	"subst"	"8.27726E-5"	"00000"	"CNGB1_000090"	"g.57918336C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs186853874"	"0"	""	""	"g.57884432C>T"	""	"likely pathogenic (recessive)"	""
"0000784394"	"0"	"70"	"16"	"57957268"	"57957325"	"del"	"2.44121E-5"	"00000"	"CNGB1_000208"	"g.57957268_57957325del"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.1536-41_1552del58"	""	"Germline"	""	""	"0"	""	""	"g.57923364_57923421del"	""	"likely pathogenic (recessive)"	""
"0000784399"	"0"	"70"	"16"	"57937870"	"57937870"	"subst"	"1.22059E-5"	"00000"	"CNGB1_000203"	"g.57937870C>T"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs183620639"	"0"	""	""	"g.57903966C>T"	""	"likely pathogenic (recessive)"	""
"0000784414"	"0"	"50"	"16"	"57935248"	"57935248"	"subst"	"0.00042326"	"00000"	"CNGB1_000201"	"g.57935248C>G"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901344C>G"	""	"VUS"	""
"0000784447"	"0"	"50"	"16"	"57935248"	"57935248"	"subst"	"0.00042326"	"00000"	"CNGB1_000201"	"g.57935248C>G"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901344C>G"	""	"VUS"	""
"0000784451"	"0"	"50"	"16"	"57984441"	"57984441"	"subst"	"0.000674276"	"00000"	"CNGB1_000070"	"g.57984441C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs146170855"	"0"	""	""	"g.57950537C>T"	""	"VUS"	""
"0000784474"	"0"	"50"	"16"	"57935248"	"57935248"	"subst"	"0.00042326"	"00000"	"CNGB1_000201"	"g.57935248C>G"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901344C>G"	""	"VUS"	""
"0000784532"	"0"	"50"	"16"	"57974143"	"57974143"	"subst"	"0.00583855"	"00000"	"CNGB1_000067"	"g.57974143C>T"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs140907154"	"0"	""	""	"g.57940239C>T"	""	"VUS"	""
"0000784535"	"0"	"50"	"16"	"57935248"	"57935248"	"subst"	"0.00042326"	"00000"	"CNGB1_000201"	"g.57935248C>G"	"4/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901344C>G"	""	"VUS"	""
"0000784586"	"2"	"90"	"16"	"57935436"	"57935437"	"del"	"0"	"00000"	"CNGB1_000202"	"g.57935436_57935437del"	""	"{PMID:Xu 2014:24938718}"	""	"c.2888_2889delTT"	""	"Germline"	""	""	"0"	""	""	"g.57901532_57901533del"	""	"pathogenic (recessive)"	""
"0000785382"	"3"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	""
"0000786325"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Zhao 2015:25472526}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	""
"0000786464"	"1"	"90"	"16"	"57938764"	"57938764"	"subst"	"4.0621E-6"	"00000"	"CNGB1_000211"	"g.57938764G>T"	""	"{PMID:Consugar 2015:25412400}"	""	"2508G>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.57904860G>T"	""	"pathogenic (recessive)"	""
"0000786502"	"2"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Consugar 2015:25412400}"	""	"2284G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.57915269G>A"	""	"pathogenic (recessive)"	""
"0000787633"	"3"	"70"	"16"	"57957189"	"57957189"	"subst"	"0.000346167"	"00000"	"CNGB1_000062"	"g.57957189G>A"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57923285G>A"	""	"likely pathogenic"	""
"0000788101"	"3"	"90"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"00000"	"CNGB1_000127"	"g.57998386C>G"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964482C>G"	""	"pathogenic"	""
"0000788102"	"3"	"90"	"16"	"57938748"	"57938748"	"dup"	"0"	"00000"	"CNGB1_000212"	"g.57938748dup"	""	"{PMID:Oishi 2014:25324289}"	""	"2524_2525insA"	""	"Germline"	""	""	"0"	""	""	"g.57904844dup"	""	"pathogenic"	""
"0000788330"	"0"	"50"	"16"	"57921800"	"57921800"	"subst"	"0.000650116"	"00000"	"CNGB1_000092"	"g.57921800C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"G3421A"	""	"Germline"	""	""	"0"	""	""	"g.57887896C>T"	""	"VUS"	""
"0000788419"	"0"	"50"	"16"	"57965705"	"57965705"	"subst"	"0"	"00000"	"CNGB1_000117"	"g.57965705T>C"	""	"{PMID:Katagiri 2014:25268133}"	""	"A1450G"	""	"Germline"	""	""	"0"	""	""	"g.57931801T>C"	""	"VUS"	""
"0000788523"	"0"	"50"	"16"	"57918336"	"57918336"	"subst"	"8.27726E-5"	"00000"	"CNGB1_000090"	"g.57918336C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"G3488A"	""	"Germline"	""	"rs186853874"	"0"	""	""	"g.57884432C>T"	""	"VUS"	""
"0000790528"	"0"	"50"	"16"	"57983289"	"57983291"	"dup"	"0"	"00000"	"CNGB1_000194"	"g.57983289_57983291dup"	""	"{PMID:Wang 2014:25097241}"	""	"c.1101_1103dupGGA"	""	"Germline"	""	""	"0"	""	""	"g.57949385_57949387dup"	""	"VUS"	""
"0000790546"	"0"	"50"	"16"	"57921751"	"57921751"	"subst"	"0.000109956"	"00000"	"CNGB1_000213"	"g.57921751C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57887847C>A"	""	"VUS"	""
"0000790568"	"0"	"50"	"16"	"57992385"	"57992385"	"subst"	"2.43825E-5"	"00000"	"CNGB1_000214"	"g.57992385C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57958481C>A"	""	"VUS"	""
"0000790636"	"0"	"50"	"16"	"57993919"	"57993919"	"subst"	"0.00147035"	"00000"	"CNGB1_000075"	"g.57993919T>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs192628905"	"0"	""	""	"g.57960015T>A"	""	"VUS"	""
"0000791615"	"0"	"50"	"16"	"57954396"	"57954396"	"subst"	"1.21872E-5"	"00000"	"CNGB1_000215"	"g.57954396C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.1696G>A"	"single heterozygous variant in a recessive gene, probably not causative in the patient"	"Germline"	"no"	""	"0"	""	""	"g.57920492C>T"	""	"VUS"	"ACMG"
"0000793913"	"0"	"70"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"03508"	"CNGB1_000127"	"g.57998386C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000793914"	"0"	"70"	"16"	"57951184"	"57951184"	"subst"	"4.89412E-5"	"03508"	"CNGB1_000216"	"g.57951184G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000794466"	"0"	"70"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"03508"	"CNGB1_000127"	"g.57998386C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794685"	"0"	"70"	"16"	"57937866"	"57937867"	"ins"	"0"	"03508"	"CNGB1_000217"	"g.57937866_57937867insTC"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57903962_57903963insTC"	""	"pathogenic"	"ACMG"
"0000794963"	"3"	"50"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.2957A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000795065"	"3"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Bocquet-2013:23350551}"	""	"c.2284C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000795773"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Perez-Carro 2018:29912909}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000795935"	"3"	"90"	"16"	"57949164"	"57949164"	"subst"	"2.03436E-5"	"00000"	"CNGB1_000188"	"g.57949164G>A"	""	"{PMID:Schorderet-2013:23484092}"	""	"p.CNGB1-R765C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000796151"	"2"	"90"	"16"	"57953064"	"57953064"	"subst"	"8.12255E-6"	"00000"	"CNGB1_000218"	"g.57953064G>T"	""	"{PMID:Nishiguchi-2013:24043777}"	""	"c.1896C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000796152"	"1"	"90"	"16"	"57931393"	"57931393"	"del"	"2.03057E-5"	"00000"	"CNGB1_000198"	"g.57931393del"	""	"{PMID:Nishiguchi-2013:24043777}"	""	"c.3150delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000796841"	"0"	"70"	"16"	"57949242"	"57949242"	"subst"	"0"	"00000"	"CNGB1_000220"	"g.57949242G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2218-3C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796866"	"0"	"70"	"16"	"57921974"	"57921974"	"subst"	"0"	"00000"	"CNGB1_000219"	"g.57921974T>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.3247A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797090"	"0"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.2284C>T, p.Arg762Lys"	"Heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57915269G>A"	""	"pathogenic"	"ACMG"
"0000797161"	"0"	"70"	"16"	"57945656"	"57945656"	"subst"	"0"	"00000"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Birtel 2018:30543658}"	""	"c.2492+1G>A, Splice"	"Heterozygous"	"Germline"	""	"rs530551814"	"0"	""	""	"g.57911752C>T"	""	"likely pathogenic"	"ACMG"
"0000797569"	"3"	"70"	"16"	"57949186"	"57949186"	"del"	"0"	"00000"	"CNGB1_000224"	"g.57949186del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2271del, p.(Asn758Thrfs*10), c.2271del, p.(Asn758Thrfs*10)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57915282del"	""	"likely pathogenic"	"ACMG"
"0000797570"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile), c.2957A>T, p.(Asn986Ile)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	"ACMG"
"0000797571"	"0"	"70"	"16"	"57938701"	"57938702"	"ins"	"2.84269E-5"	"00000"	"CNGB1_000222"	"g.57938701_57938702insA"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2570_2571insTp.(Glu857Aspfs*77), c.2957A>T, p.(Asn986Ile)"	""	"Germline"	"?"	""	"0"	""	""	"g.57904797_57904798insA"	""	"likely pathogenic"	"ACMG"
"0000797572"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2570_2571insTp.(Glu857Aspfs*77), c.2957A>T, p.(Asn986Ile)"	""	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	"ACMG"
"0000797573"	"0"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2166+1G>A, p.(?), c.2957A>T, p.(Asn986Ile), USH2A c.1256G>T, p.(Cys419Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	"ACMG"
"0000797574"	"0"	"90"	"16"	"57951171"	"57951171"	"subst"	"0"	"00000"	"CNGB1_000225"	"g.57951171C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2166+1G>A, p.(?), c.2957A>T, p.(Asn986Ile), USH2A c.1256G>T, p.(Cys419Phe)"	""	"Germline"	"?"	""	"0"	""	""	"g.57917267C>T"	""	"pathogenic"	"ACMG"
"0000797576"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile), c.3131_3149dup, p.(Phe1051Glufs*15), IQCB1 c.214C>T, p.(Arg72*)"	""	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	"ACMG"
"0000797577"	"0"	"70"	"16"	"57931403"	"57931421"	"dup"	"0"	"00000"	"CNGB1_000221"	"g.57931403_57931421dup"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile), c.3131_3149dup, p.(Phe1051Glufs*15), IQCB1 c.214C>T, p.(Arg72*)"	"error in annotation:  p.(Phe1051Glufs*15) instead of  p.(Phe1051Glnfs*15)"	"Germline"	"?"	""	"0"	""	""	"g.57897499_57897517dup"	""	"likely pathogenic"	"ACMG"
"0000797579"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile), c.2957A>T, p.(Asn986Ile)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	"ACMG"
"0000797588"	"3"	"70"	"16"	"57973362"	"57973362"	"del"	"0"	"00000"	"CNGB1_000227"	"g.57973362del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.1345del, p.(Ala449Leufs*54), c.1345del, p.(Ala449Leufs*54)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57939458del"	""	"likely pathogenic"	"ACMG"
"0000797979"	"0"	"50"	"16"	"57984343"	"57984343"	"subst"	"3.24876E-5"	"00000"	"CNGB1_000228"	"g.57984343C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.976G>C, p.(Gly326Arg), c.965C>T, p.(Thr322Ile)"	""	"Germline"	"?"	""	"0"	""	""	"g.57950439C>G"	""	"VUS"	"ACMG"
"0000797980"	"0"	"50"	"16"	"57984354"	"57984354"	"subst"	"3.24876E-5"	"00000"	"CNGB1_000229"	"g.57984354G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.976G>C, p.(Gly326Arg), c.965C>T, p.(Thr322Ile)"	""	"Germline"	"?"	""	"0"	""	""	"g.57950450G>A"	""	"VUS"	"ACMG"
"0000797981"	"3"	"50"	"16"	"57949172"	"57949172"	"subst"	"1.2208E-5"	"00000"	"CNGB1_000178"	"g.57949172C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2285G>A, p.(Arg762His), c.2285G>A, p.(Arg762His)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57915268C>T"	""	"VUS"	"ACMG"
"0000797982"	"3"	"50"	"16"	"57951253"	"57951253"	"subst"	"0"	"00000"	"CNGB1_000226"	"g.57951253A>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2085T>A, p.(Asp695Glu), c.2085T>A, p.(Asp695Glu)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57917349A>T"	""	"VUS"	"ACMG"
"0000797983"	"0"	"70"	"16"	"57973362"	"57973362"	"del"	"0"	"00000"	"CNGB1_000227"	"g.57973362del"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.1345del, p.(Ala449Leufs*54)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.57939458del"	""	"likely pathogenic"	"ACMG"
"0000797984"	"3"	"50"	"16"	"57951253"	"57951253"	"subst"	"0"	"00000"	"CNGB1_000226"	"g.57951253A>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2085T>A, p.(Asp695Glu), c.2085T>A, p.(Asp695Glu)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57917349A>T"	""	"VUS"	"ACMG"
"0000797985"	"0"	"70"	"16"	"57937773"	"57937773"	"subst"	"0.00049959"	"00000"	"CNGB1_000081"	"g.57937773C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CNGB1 c.2747G>A, p.(Arg916His)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.57903869C>T"	""	"likely pathogenic"	"ACMG"
"0000798070"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"RP1 c.4642A>T, p.(Ser1548Cys), CNGB1 c.2957A>T, p.(Asn986Ile)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	"ACMG"
"0000798420"	"3"	"70"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000230"	"g.57996515C>T"	""	"{PMID:Azam-2011:21987686}"	""	"c.412-1G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000798425"	"3"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Azam 2011:21987686}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000798433"	"0"	"70"	"16"	"57937773"	"57937773"	"subst"	"0.00049959"	"00000"	"CNGB1_000081"	"g.57937773C>T"	""	"{PMID:Song-2011:22025579}"	""	"c.2747G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000807486"	"0"	"30"	"16"	"57918132"	"57918132"	"subst"	"3.28046E-5"	"01943"	"CNGB1_000231"	"g.57918132G>A"	""	""	""	"CNGB1(NM_001297.4):c.3692C>T (p.P1231L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807487"	"0"	"50"	"16"	"57937839"	"57937839"	"subst"	"0.000455037"	"01943"	"CNGB1_000184"	"g.57937839C>T"	""	""	""	"CNGB1(NM_001297.4):c.2681G>A (p.R894H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807488"	"0"	"30"	"16"	"57938790"	"57938791"	"del"	"0"	"01943"	"CNGB1_000050"	"g.57938790_57938791del"	""	""	""	"CNGB1(NM_001297.4):c.2493-5_2493-4delTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807489"	"0"	"50"	"16"	"57950040"	"57950040"	"subst"	"1.21829E-5"	"01943"	"CNGB1_000232"	"g.57950040C>T"	""	""	""	"CNGB1(NM_001297.4):c.2210G>A (p.R737H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807490"	"0"	"50"	"16"	"57957231"	"57957231"	"subst"	"0.000430954"	"01943"	"CNGB1_000027"	"g.57957231G>C"	""	""	""	"CNGB1(NM_001297.4):c.1589C>G (p.P530R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807491"	"0"	"50"	"16"	"57957240"	"57957240"	"subst"	"0.000618007"	"01943"	"CNGB1_000063"	"g.57957240G>A"	""	""	""	"CNGB1(NM_001297.4):c.1580C>T (p.A527V), CNGB1(NM_001297.5):c.1580C>T (p.A527V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807492"	"0"	"30"	"16"	"57973431"	"57973431"	"subst"	"0.000325574"	"01943"	"CNGB1_000066"	"g.57973431G>C"	""	""	""	"CNGB1(NM_001297.4):c.1275C>G (p.A425=), CNGB1(NM_001297.5):c.1275C>G (p.A425=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807493"	"0"	"50"	"16"	"57984441"	"57984441"	"subst"	"0.000674276"	"01943"	"CNGB1_000070"	"g.57984441C>T"	""	""	""	"CNGB1(NM_001297.4):c.878G>A (p.S293N), CNGB1(NM_001297.5):c.878G>A (p.S293N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807494"	"0"	"30"	"16"	"57993805"	"57993805"	"subst"	"0"	"01943"	"CNGB1_000233"	"g.57993805T>C"	""	""	""	"CNGB1(NM_001297.4):c.748A>G (p.R250G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811867"	"0"	"70"	"5"	"57921974"	"57921974"	"subst"	"0"	"00000"	"CNGB1_000219"	"g.57921974T>C"	""	"{PMID:Gao 2019:31054281}"	""	"c.3247A>G, p.Met1083Val"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.57888070T>C"	""	"likely pathogenic"	""
"0000812022"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile), MERTK: Ex.19c.2784_2785dup p.(Tyr929Cysfs*4)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000812044"	"0"	"70"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 IVS6 c.413-1G>A  p.(?), Ex.26 c.2567_2568del  p.(Phe856*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57962611C>T"	""	"likely pathogenic"	""
"0000812045"	"0"	"70"	"16"	"57938705"	"57938706"	"del"	"0"	"00000"	"CNGB1_000236"	"g.57938705_57938706del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 IVS6 c.413-1G>A  p.(?), Ex.26 c.2567_2568del  p.(Phe856*)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57904801_57904802del"	""	"likely pathogenic"	""
"0000812061"	"0"	"70"	"16"	"57951234"	"57951234"	"subst"	"1.21849E-5"	"00000"	"CNGB1_000237"	"g.57951234A>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.21 c.2104T>A p.(Tyr702Asn), Ex.32 c.3425del p.(Leu1142Argfs*82)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57917330A>T"	""	"likely pathogenic"	""
"0000812062"	"0"	"70"	"16"	"57921796"	"57921796"	"del"	"4.06349E-6"	"00000"	"CNGB1_000234"	"g.57921796del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.21 c.2104T>A p.(Tyr702Asn), Ex.32 c.3425del p.(Leu1142Argfs*82)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57887892del"	""	"likely pathogenic"	""
"0000812063"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000812070"	"3"	"70"	"16"	"57965758"	"57965758"	"del"	"0"	"00000"	"CNGB1_000241"	"g.57965758del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.17 c.1398del  p.(Val467Cysfs*36), Ex.17 c.1398del  p.(Val467Cysfs*36)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57931854del"	""	"likely pathogenic"	""
"0000812119"	"0"	"70"	"16"	"57953138"	"57953138"	"subst"	"0"	"00000"	"CNGB1_000240"	"g.57953138C>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.20 c.1822G>T  p.(Glu608*), Ex.29 c.2957A>T  p.(Asn986Ile)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57919234C>A"	""	"likely pathogenic"	""
"0000812120"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.20 c.1822G>T  p.(Glu608*), Ex.29 c.2957A>T  p.(Asn986Ile)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000812121"	"0"	"70"	"16"	"57992350"	"57992350"	"del"	"0"	"00000"	"CNGB1_000242"	"g.57992350del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.11 c.801del  p.(Leu267Phefs*10), Ex.21 c.2104T>A  p.(Tyr702Asn), CRB1: Ex.2 c.613_619del (p.Ile205Aspfs*13)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57958446del"	""	"likely pathogenic"	""
"0000812123"	"0"	"70"	"16"	"57951234"	"57951234"	"subst"	"1.21849E-5"	"00000"	"CNGB1_000237"	"g.57951234A>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.11 c.801del  p.(Leu267Phefs*10), Ex.21 c.2104T>A  p.(Tyr702Asn), CRB1: Ex.2 c.613_619del (p.Ile205Aspfs*13)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57917330A>T"	""	"likely pathogenic"	""
"0000812195"	"3"	"70"	"16"	"57931395"	"57931395"	"del"	"0"	"00000"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.31 c.3150del p.(Phe1051Leufs*12), Ex.31 c.3150del p.(Phe1051Leufs*12)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57897491del"	""	"likely pathogenic"	""
"0000812268"	"0"	"70"	"16"	"57951309"	"57951309"	"subst"	"7.31036E-5"	"00000"	"CNGB1_000238"	"g.57951309G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.21 c.2029C>T p.(Arg677Cys), Ex.29 c.2957A>T p.(Asn986Ile)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57917405G>A"	""	"likely pathogenic"	""
"0000812269"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.21 c.2029C>T p.(Arg677Cys), Ex.29 c.2957A>T p.(Asn986Ile)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000812276"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000812359"	"0"	"70"	"16"	"57950041"	"57950041"	"subst"	"0.000686317"	"00000"	"CNGB1_000159"	"g.57950041G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.22 c.2209C>T p.(Arg737Cys), Ex.27 c.2764G>T p.(Glu922*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57916137G>A"	""	"likely pathogenic"	""
"0000812360"	"0"	"70"	"16"	"57937756"	"57937756"	"subst"	"0"	"00000"	"CNGB1_000235"	"g.57937756C>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.22 c.2209C>T p.(Arg737Cys), Ex.27 c.2764G>T p.(Glu922*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57903852C>A"	""	"likely pathogenic"	""
"0000812361"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.29 c.2957A>T p.(Asn986Ile), Ex.29 c.2957A>T p.(Asn986Ile)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000812398"	"3"	"70"	"16"	"57953011"	"57953011"	"subst"	"2.4371E-5"	"00000"	"CNGB1_000239"	"g.57953011G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"CNGB1 Ex.20 c.1949C>T p.(Pro650Leu), Ex.20 c.1949C>T p.(Pro650Leu)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57919107G>A"	""	"likely pathogenic"	""
"0000814270"	"1"	"70"	"16"	"57951240"	"57951240"	"subst"	"0.000150281"	"00000"	"CNGB1_000207"	"g.57951240G>A"	""	"{PMID:Chen 2020:31872526}"	""	"CNGB1:NM_001286130:exon21:c.2080C>T:p.L694F"	"different transcript: NM_001286130.1(CNGB1):c.2080C>T, p.L694F; compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.57917336G>A"	""	"likely pathogenic"	""
"0000814297"	"2"	"70"	"16"	"57953120"	"57953120"	"subst"	"0"	"00000"	"CNGB1_000243"	"g.57953120T>C"	""	"{PMID:Chen 2020:31872526}"	""	"CNGB1:NM_001286130:exon20:c.1822A>G:p.K608E"	"different transcript: NM_001286130.1(CNGB1):c.1822A>G, p.K608E; compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.57919216T>C"	""	"likely pathogenic"	""
"0000814765"	"3"	"50"	"16"	"57935311"	"57935311"	"subst"	"3.24878E-5"	"00000"	"CNGB1_000244"	"g.57935311A>C"	""	"{PMID:Dan 2020:31960602}"	""	"CNGB1 c.2921T>G, p.(Met974Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.57901407A>C"	""	"VUS"	"ACMG"
"0000815279"	"0"	"90"	"16"	"57953138"	"57953138"	"subst"	"0"	"00000"	"CNGB1_000240"	"g.57953138C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.1822G>T; p.(Glu608*)"	"homozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.57919234C>A"	""	"pathogenic"	"ACMG"
"0000815354"	"0"	"90"	"16"	"57992350"	"57992350"	"del"	"0"	"00000"	"CNGB1_000242"	"g.57992350del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CNGB1:NM_001297 c.801delG, p.(Leu267Phefs*10)"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.57958446del"	""	"pathogenic"	"ACMG"
"0000815444"	"0"	"90"	"16"	"57953138"	"57953138"	"subst"	"0"	"00000"	"CNGB1_000240"	"g.57953138C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CNGB1:NM_001297 c.G1822T, p.E608X"	"homozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.57919234C>A"	""	"pathogenic"	"ACMG"
"0000815445"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CNGB1:NM_001297 c.A2957T, p.N986I"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	"ACMG"
"0000815446"	"0"	"90"	"16"	"57953138"	"57953138"	"subst"	"0"	"00000"	"CNGB1_000240"	"g.57953138C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CNGB1:NM_001297 c.G1822T, p.E608X"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.57919234C>A"	""	"pathogenic"	"ACMG"
"0000815618"	"0"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00000"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CNGB1:NM_001297 c.3150delG, p.(Phe1051Leufs*12)"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.57897491del"	""	"pathogenic"	"ACMG"
"0000816017"	"0"	"90"	"16"	"57954444"	"57954444"	"subst"	"0"	"00000"	"CNGB1_000273"	"g.57954444G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CNGB1 c.1648C>T, p.Gln550Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57920540G>A"	""	"pathogenic"	""
"0000816062"	"0"	"90"	"16"	"57938764"	"57938764"	"subst"	"4.0621E-6"	"00000"	"CNGB1_000211"	"g.57938764G>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CNGB1 c.2508C>A, p.Tyr836Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57904860G>T"	""	"pathogenic"	""
"0000816103"	"3"	"50"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00000"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CNGB1 c.2893-7G>A"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901442C>T"	""	"VUS"	""
"0000816195"	"0"	"50"	"16"	"57953053"	"57953053"	"subst"	"0"	"00000"	"CNGB1_000271"	"g.57953053T>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CNGB1 c.1907A>G, p.His636Arg"	"Predicted to be polymorphism by MutationTaster; potentially alter splicing by HumanSplicingFinder, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57919149T>C"	""	"VUS"	""
"0000816360"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.2957A>T, p.Asn986Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000816397"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.2957A>T, p.Asn986Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000816425"	"0"	"50"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00000"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.2893-7G>A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901442C>T"	""	"VUS"	""
"0000816496"	"0"	"50"	"16"	"57951281"	"57951281"	"subst"	"0"	"00000"	"CNGB1_000267"	"g.57951281T>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.2057A>G, p.Asp686Gly"	"Predicted to be polymorphism by MutationTaster; potentially alter splicing by HumanSplicingFinder, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57917377T>C"	""	"VUS"	""
"0000816581"	"1"	"90"	"16"	"57951246"	"57951246"	"subst"	"8.12275E-6"	"00006"	"CNGB1_000245"	"g.57951246A>G"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000816582"	"2"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	"rs530551814"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000816583"	"1"	"90"	"16"	"57994384"	"57994384"	"subst"	"1.23155E-5"	"00006"	"CNGB1_000246"	"g.57994384A>G"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000816584"	"2"	"50"	"16"	"57946932"	"57946932"	"subst"	"8.19484E-5"	"00006"	"CNGB1_000247"	"g.57946932C>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000816585"	"2"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Mauro-Herrera 2021:34209753}"	""	""	"in vitro splicing assay shows exon skipping"	"In vitro (cloned)"	""	"rs530551814"	"0"	""	""	""	""	"NA"	""
"0000816586"	"1"	"90"	"16"	"57994384"	"57994384"	"subst"	"1.23155E-5"	"00006"	"CNGB1_000246"	"g.57994384A>G"	""	"{PMID:Mauro-Herrera 2021:34209753}"	""	""	"in vitro splicing assay shows exon skipping"	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000816587"	"2"	"70"	"16"	"57946932"	"57946932"	"subst"	"8.19484E-5"	"00006"	"CNGB1_000247"	"g.57946932C>T"	""	"{PMID:Mauro-Herrera 2021:34209753}"	""	""	"minigene splicing assay shows exon skipping"	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000816719"	"3"	"70"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"CNGB1 c.2284C>T, p.R762C"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57915269G>A"	""	"likely pathogenic"	""
"0000816720"	"3"	"70"	"16"	"57931395"	"57931395"	"del"	"0"	"00000"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Jauregui 2020:32098976}"	""	"CNGB1 c.3150delG, p.F1051LfsX12"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57897491del"	""	"likely pathogenic"	""
"0000816721"	"1"	"70"	"16"	"57953064"	"57953064"	"subst"	"8.12255E-6"	"00000"	"CNGB1_000218"	"g.57953064G>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"CNGB1 c.1896C>A, p.C632X"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57919160G>T"	""	"likely pathogenic"	""
"0000816722"	"3"	"70"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00000"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Jauregui 2020:32098976}"	""	"CNGB1 c.2284C>T, p.R762C"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57915269G>A"	""	"likely pathogenic"	""
"0000816829"	"2"	"70"	"16"	"57931395"	"57931395"	"del"	"0"	"00000"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Jauregui 2020:32098976}"	""	"CNGB1 c.3150delG, p.G1050GfsX13"	"error in annotation: c.3150del causes frameshift which should be annotated p.(Phe1051Leufs*12) and not p.G1050GfsX13, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57897491del"	""	"likely pathogenic"	""
"0000817938"	"0"	"50"	"16"	"58001027"	"58001027"	"subst"	"0"	"00006"	"CNGB1_000288"	"g.58001027C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57967123C>T"	""	"VUS"	"ACMG"
"0000817939"	"0"	"50"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"00006"	"CNGB1_000127"	"g.57998386C>G"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57964482C>G"	""	"VUS"	"ACMG"
"0000817940"	"0"	"90"	"16"	"57998062"	"57998062"	"subst"	"0"	"00006"	"CNGB1_000002"	"g.57998062G>A"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57964158G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817941"	"0"	"90"	"16"	"57996944"	"57996944"	"subst"	"0"	"00006"	"CNGB1_000287"	"g.57996944C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57963040C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817942"	"0"	"90"	"16"	"57996913"	"57996913"	"subst"	"4.07004E-6"	"00006"	"CNGB1_000286"	"g.57996913G>A"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57963009G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817943"	"0"	"90"	"16"	"57996774"	"57996774"	"del"	"0"	"00006"	"CNGB1_000285"	"g.57996774del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57962870del"	""	"pathogenic (recessive)"	"ACMG"
"0000817944"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	""	""	""	"ACMG PVS1, PM2, PS3, PP3, PP5"	"SUMMARY record"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817945"	"0"	"90"	"16"	"57994761"	"57994761"	"dup"	"0"	"00006"	"CNGB1_000284"	"g.57994761dup"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57960857dup"	""	"pathogenic (recessive)"	"ACMG"
"0000817946"	"0"	"90"	"16"	"57994743"	"57994743"	"subst"	"4.082E-5"	"00006"	"CNGB1_000283"	"g.57994743C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57960839C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817947"	"0"	"90"	"16"	"57993889"	"57993889"	"subst"	"0"	"00006"	"CNGB1_000001"	"g.57993889G>A"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57959985G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817948"	"0"	"90"	"16"	"57993790"	"57993790"	"subst"	"0"	"00006"	"CNGB1_000003"	"g.57993790A>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57959886A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817949"	"0"	"70"	"16"	"57992344"	"57992344"	"subst"	"0"	"00006"	"CNGB1_000282"	"g.57992344C>G"	""	""	""	""	"ACMG PM1, PM2, PM3, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57958440C>G"	""	"likely pathogenic (recessive)"	"ACMG"
"0000817950"	"0"	"90"	"16"	"57992319"	"57992319"	"subst"	"0"	"00006"	"CNGB1_000281"	"g.57992319C>A"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57958415C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817951"	"0"	"90"	"16"	"57984446"	"57984446"	"subst"	"0"	"00006"	"CNGB1_000181"	"g.57984446T>G"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57950542T>G"	""	"pathogenic (recessive)"	"ACMG"
"0000817952"	"0"	"70"	"16"	"57984428"	"57984449"	"dup"	"0"	"00006"	"CNGB1_000192"	"g.57984428_57984449dup"	""	""	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.57950524_57950545dup"	""	"VUS"	"ACMG"
"0000817953"	"0"	"90"	"16"	"57984380"	"57984380"	"subst"	"0"	"00006"	"CNGB1_000248"	"g.57984380C>T"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57950476C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817954"	"0"	"90"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"00006"	"CNGB1_000006"	"g.57984367G>A"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57950463G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817955"	"0"	"90"	"16"	"57974234"	"57974234"	"subst"	"0"	"00006"	"CNGB1_000279"	"g.57974234C>T"	""	""	""	""	"ACMG PS3, PM2, PM3, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57940330C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817956"	"0"	"50"	"16"	"57974160"	"57974160"	"subst"	"0"	"00006"	"CNGB1_000187"	"g.57974160C>T"	""	""	""	""	"ACMG BP4, PM2"	"SUMMARY record"	""	""	"0"	""	""	"g.57940256C>T"	""	"VUS"	"ACMG"
"0000817957"	"0"	"90"	"16"	"57973489"	"57973489"	"dup"	"0"	"00006"	"CNGB1_000278"	"g.57973489dup"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57939585dup"	""	"pathogenic (recessive)"	"ACMG"
"0000817958"	"0"	"90"	"16"	"57973394"	"57973394"	"subst"	"0"	"00006"	"CNGB1_000277"	"g.57973394G>A"	""	""	""	""	"ACMG PVS1, PM1, PM2"	"SUMMARY record"	""	""	"0"	""	""	"g.57939490G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817959"	"0"	"90"	"16"	"57973387"	"57973387"	"subst"	"0"	"00006"	"CNGB1_000276"	"g.57973387C>T"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57939483C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817960"	"0"	"50"	"16"	"57965773"	"57965773"	"subst"	"0.0086528"	"00006"	"CNGB1_000150"	"g.57965773G>A"	""	""	""	""	"ACMG BS1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57931869G>A"	""	"VUS"	"ACMG"
"0000817961"	"0"	"50"	"16"	"57957231"	"57957231"	"subst"	"0.000430954"	"00006"	"CNGB1_000027"	"g.57957231G>C"	""	""	""	""	"ACMG PP1, PP3, BS1"	"SUMMARY record"	""	""	"0"	""	""	"g.57923327G>C"	""	"VUS"	"ACMG"
"0000817962"	"0"	"90"	"16"	"57957207"	"57957207"	"subst"	"4.06729E-6"	"00006"	"CNGB1_000275"	"g.57957207C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57923303C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817963"	"0"	"50"	"16"	"57954451"	"57954451"	"subst"	"4.08794E-6"	"00006"	"CNGB1_000274"	"g.57954451G>C"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57920547G>C"	""	"VUS"	"ACMG"
"0000817964"	"0"	"90"	"16"	"57954364"	"57954364"	"del"	"0"	"00006"	"CNGB1_000272"	"g.57954364del"	""	""	""	""	"ACMG PVS1, PM1, PM2"	"SUMMARY record"	""	""	"0"	""	""	"g.57920460del"	""	"pathogenic (recessive)"	"ACMG"
"0000817965"	"0"	"50"	"16"	"57954286"	"57954286"	"subst"	"2.03161E-5"	"00006"	"CNGB1_000186"	"g.57954286C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57920382C>T"	""	"VUS"	"ACMG"
"0000817966"	"0"	"90"	"16"	"57953064"	"57953064"	"subst"	"8.12255E-6"	"00006"	"CNGB1_000218"	"g.57953064G>T"	""	""	""	""	"ACMG PVS1, PM2, PP1"	"SUMMARY record"	""	""	"0"	""	""	"g.57919160G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817967"	"0"	"90"	"16"	"57953043"	"57953043"	"subst"	"4.06114E-6"	"00006"	"CNGB1_000270"	"g.57953043C>T"	""	""	""	""	"ACMG PVS1, PM2, PM3"	"SUMMARY record"	""	""	"0"	""	""	"g.57919139C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817968"	"0"	"50"	"16"	"57953019"	"57953019"	"subst"	"1.21842E-5"	"00006"	"CNGB1_000269"	"g.57953019G>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57919115G>T"	""	"VUS"	"ACMG"
"0000817969"	"0"	"90"	"16"	"57953001"	"57953001"	"subst"	"1.21863E-5"	"00006"	"CNGB1_000268"	"g.57953001A>C"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57919097A>C"	""	"pathogenic (recessive)"	"ACMG"
"0000817970"	"0"	"50"	"16"	"57951242"	"57951242"	"subst"	"0"	"00006"	"CNGB1_000185"	"g.57951242T>C"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57917338T>C"	""	"VUS"	"ACMG"
"0000817971"	"0"	"70"	"16"	"57951235"	"57951246"	"dup"	"0"	"00006"	"CNGB1_000266"	"g.57951235_57951246dup"	""	""	""	""	"ACMG PM2, PM4, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57917331_57917342dup"	""	"likely pathogenic (recessive)"	"ACMG"
"0000817972"	"0"	"50"	"16"	"57951166"	"57951166"	"subst"	"2.91533E-5"	"00006"	"CNGB1_000265"	"g.57951166A>C"	""	""	""	""	"ACMG PM3, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57917262A>C"	""	"VUS"	"ACMG"
"0000817973"	"0"	"90"	"16"	"57950065"	"57950065"	"subst"	"4.06101E-6"	"00006"	"CNGB1_000008"	"g.57950065G>A"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57916161G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817974"	"0"	"50"	"16"	"57950040"	"57950040"	"subst"	"1.21829E-5"	"00006"	"CNGB1_000232"	"g.57950040C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57916136C>T"	""	"VUS"	"ACMG"
"0000817975"	"0"	"90"	"16"	"57949241"	"57949241"	"subst"	"0"	"00006"	"CNGB1_000264"	"g.57949241T>C"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57915337T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000817976"	"0"	"90"	"16"	"57949199"	"57949199"	"subst"	"0"	"00006"	"CNGB1_000263"	"g.57949199A>T"	""	""	""	""	"ACMG PVS1, PM1, PM2"	"SUMMARY record"	""	""	"0"	""	""	"g.57915295A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817977"	"0"	"70"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	""	""	""	"ACMG PM2, PM3, PP1, PP3, PP5"	"SUMMARY record"	""	""	"0"	""	""	"g.57915269G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000817978"	"0"	"50"	"16"	"57949172"	"57949172"	"subst"	"1.2208E-5"	"00006"	"CNGB1_000178"	"g.57949172C>T"	""	""	""	""	"ACMG PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57915268C>T"	""	"VUS"	"ACMG"
"0000817979"	"0"	"50"	"16"	"57949164"	"57949164"	"subst"	"2.03436E-5"	"00006"	"CNGB1_000188"	"g.57949164G>A"	""	""	""	""	"ACMG PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57915260G>A"	""	"VUS"	"ACMG"
"0000817980"	"0"	"50"	"16"	"57949163"	"57949163"	"subst"	"0"	"00006"	"CNGB1_000200"	"g.57949163C>A"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57915259C>A"	""	"VUS"	"ACMG"
"0000817981"	"0"	"90"	"16"	"57946900"	"57946900"	"subst"	"4.06825E-6"	"00006"	"CNGB1_000262"	"g.57946900T>C"	""	""	""	""	"ACMG PVS1, PM2, PP1"	"SUMMARY record"	""	""	"0"	""	""	"g.57912996T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000817982"	"0"	"90"	"16"	"57946850"	"57946850"	"subst"	"0"	"00006"	"CNGB1_000261"	"g.57946850T>A"	""	""	""	""	"ACMG PVS1, PM2, PP1"	"SUMMARY record"	""	""	"0"	""	""	"g.57912946T>A"	""	"pathogenic (recessive)"	"ACMG"
"0000817983"	"0"	"90"	"16"	"57946842"	"57946842"	"subst"	"8.12328E-6"	"00006"	"CNGB1_000205"	"g.57946842G>T"	""	""	""	""	"ACMG PVS1, PM2, PM3, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57912938G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817984"	"0"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57911752C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817985"	"0"	"90"	"16"	"57938781"	"57938781"	"subst"	"2.03202E-5"	"00006"	"CNGB1_000029"	"g.57938781T>C"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904877T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000817986"	"0"	"90"	"16"	"57938777"	"57938781"	"delins"	"0"	"00006"	"CNGB1_000031"	"g.57938777_57938781delinsGCC"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904873_57904877delinsGCC"	""	"pathogenic (recessive)"	"ACMG"
"0000817987"	"0"	"50"	"16"	"57938771"	"57938771"	"subst"	"1.21884E-5"	"00006"	"CNGB1_000049"	"g.57938771C>A"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904867C>A"	""	"VUS"	"ACMG"
"0000817988"	"0"	"90"	"16"	"57938764"	"57938764"	"subst"	"4.0621E-6"	"00006"	"CNGB1_000211"	"g.57938764G>T"	""	""	""	""	"ACMG PVS1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904860G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817989"	"0"	"70"	"16"	"57938748"	"57938748"	"dup"	"0"	"00006"	"CNGB1_000212"	"g.57938748dup"	""	""	""	""	"ACMG PVS1, PM2"	"SUMMARY record"	""	""	"0"	""	""	"g.57904844dup"	""	"likely pathogenic (recessive)"	"ACMG"
"0000817990"	"0"	"50"	"16"	"57938732"	"57938732"	"subst"	"8.12209E-6"	"00006"	"CNGB1_000259"	"g.57938732C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904828C>T"	""	"VUS"	"ACMG"
"0000817991"	"0"	"90"	"16"	"57938729"	"57938730"	"ins"	"0"	"00006"	"CNGB1_000105"	"g.57938729_57938730insT"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904825_57904826insT"	""	"pathogenic (recessive)"	"ACMG"
"0000817992"	"0"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00006"	"CNGB1_000007"	"g.57938733dup"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic (recessive)"	"ACMG"
"0000817993"	"0"	"90"	"16"	"57938727"	"57938727"	"dup"	"0"	"00006"	"CNGB1_000258"	"g.57938727dup"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904823dup"	""	"pathogenic (recessive)"	"ACMG"
"0000817994"	"0"	"50"	"16"	"57938717"	"57938717"	"subst"	"1.2183E-5"	"00006"	"CNGB1_000046"	"g.57938717G>A"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904813G>A"	""	"VUS"	"ACMG"
"0000817995"	"0"	"50"	"16"	"57937858"	"57937858"	"subst"	"0.000239988"	"00006"	"CNGB1_000255"	"g.57937858C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57903954C>T"	""	"VUS"	"ACMG"
"0000817996"	"0"	"50"	"16"	"57938669"	"57938669"	"subst"	"8.12209E-6"	"00006"	"CNGB1_000256"	"g.57938669C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904765C>T"	""	"VUS"	"ACMG"
"0000817997"	"0"	"50"	"16"	"57938697"	"57938697"	"subst"	"4.06098E-6"	"00006"	"CNGB1_000257"	"g.57938697C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57904793C>T"	""	"VUS"	"ACMG"
"0000817998"	"0"	"90"	"16"	"57937844"	"57937844"	"subst"	"0"	"00006"	"CNGB1_000177"	"g.57937844G>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57903940G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000817999"	"0"	"50"	"16"	"57937839"	"57937839"	"subst"	"0.000455037"	"00006"	"CNGB1_000184"	"g.57937839C>T"	""	""	""	""	"ACMG PP1, PP3, BS1"	"SUMMARY record"	""	""	"0"	""	""	"g.57903935C>T"	""	"VUS"	"ACMG"
"0000818000"	"0"	"90"	"16"	"57937760"	"57937760"	"subst"	"8.12387E-6"	"00006"	"CNGB1_000167"	"g.57937760C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57903856C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818001"	"0"	"90"	"16"	"57937757"	"57937757"	"subst"	"0"	"00006"	"CNGB1_000254"	"g.57937757G>C"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57903853G>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818002"	"0"	"90"	"16"	"57937755"	"57937758"	"del"	"0"	"00006"	"CNGB1_000032"	"g.57937755_57937758del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57903851_57903854del"	""	"pathogenic (recessive)"	"ACMG"
"0000818003"	"0"	"90"	"16"	"57937725"	"57937725"	"subst"	"8.53672E-5"	"00006"	"CNGB1_000034"	"g.57937725C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57903821C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818004"	"0"	"90"	"16"	"57935519"	"57935519"	"del"	"8.12783E-6"	"00006"	"CNGB1_000199"	"g.57935519del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901615del"	""	"pathogenic (recessive)"	"ACMG"
"0000818005"	"0"	"90"	"16"	"57935457"	"57935457"	"del"	"8.12183E-6"	"00006"	"CNGB1_000253"	"g.57935457del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901553del"	""	"pathogenic (recessive)"	"ACMG"
"0000818006"	"0"	"90"	"16"	"57935436"	"57935437"	"del"	"0"	"00006"	"CNGB1_000202"	"g.57935436_57935437del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901532_57901533del"	""	"pathogenic (recessive)"	"ACMG"
"0000818007"	"0"	"50"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00006"	"CNGB1_000252"	"g.57935346C>T"	""	""	""	""	"ACMG PM2, PM3, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901442C>T"	""	"VUS"	"ACMG"
"0000818008"	"0"	"70"	"16"	"57935339"	"57935339"	"subst"	"0"	"00006"	"CNGB1_000195"	"g.57935339C>T"	""	""	""	""	"ACMG PM1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901435C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818009"	"0"	"50"	"16"	"57935311"	"57935311"	"subst"	"3.24878E-5"	"00006"	"CNGB1_000244"	"g.57935311A>C"	""	""	""	""	"ACMG PM1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901407A>C"	""	"VUS"	"ACMG"
"0000818010"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	""	""	""	"ACMG PM1, PM2, PP3, PP5"	"SUMMARY record"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818011"	"0"	"70"	"16"	"57935266"	"57935266"	"subst"	"1.21884E-5"	"00006"	"CNGB1_000251"	"g.57935266A>T"	""	""	""	""	"ACMG PM1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57901362A>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818012"	"0"	"90"	"16"	"57935255"	"57937725"	"del"	"0"	"00006"	"CNGB1_000250"	"g.(57935530_57937725)_(57931819_57935255)del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.(57901626_57903821)_(57897915_57901351)del"	""	"pathogenic (recessive)"	"ACMG"
"0000818013"	"0"	"70"	"16"	"57931817"	"57931817"	"subst"	"0"	"00006"	"CNGB1_000009"	"g.57931817C>A"	""	""	""	""	"ACMG PM1, PM2, PP1, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57897913C>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818014"	"0"	"90"	"16"	"57931815"	"57931815"	"subst"	"0"	"00006"	"CNGB1_000176"	"g.57931815C>A"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57897911C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818015"	"0"	"90"	"16"	"57931745"	"57931751"	"del"	"0"	"00006"	"CNGB1_000249"	"g.57931745_57931751del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57897841_57897847del"	""	"pathogenic (recessive)"	"ACMG"
"0000818016"	"0"	"90"	"16"	"57931402"	"57931405"	"dup"	"0"	"00006"	"CNGB1_000005"	"g.57931402_57931405dup"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57897498_57897501dup"	""	"pathogenic (recessive)"	"ACMG"
"0000818017"	"0"	"90"	"16"	"57931403"	"57931421"	"del"	"0"	"00006"	"CNGB1_000080"	"g.57931403_57931421del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57897499_57897517del"	""	"pathogenic (recessive)"	"ACMG"
"0000818018"	"0"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00006"	"CNGB1_000198"	"g.57931395del"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic (recessive)"	"ACMG"
"0000818019"	"0"	"90"	"16"	"57921758"	"57921758"	"subst"	"0"	"00006"	"CNGB1_000025"	"g.57921758C>T"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57887854C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818020"	"0"	"50"	"16"	"57946883"	"57946883"	"subst"	"0"	"00006"	"CNGB1_000166"	"g.57946883C>T"	""	""	""	""	"ACMG PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57912979C>T"	""	"VUS"	"ACMG"
"0000818021"	"0"	"90"	"16"	"57945655"	"57945655"	"subst"	"0"	"00006"	"CNGB1_000260"	"g.57945655A>C"	""	""	""	""	"ACMG PVS1, PM2, PP3"	"SUMMARY record"	""	""	"0"	""	""	"g.57911751A>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818023"	"3"	"90"	"16"	"57935255"	"57937725"	"del"	"0"	"00006"	"CNGB1_000250"	"g.(57935530_57937725)_(57931819_57935255)del"	""	"{PMID:Afshar 2020:31570810}"	""	"c.2777-?_2958+?del (del ex28-29)"	""	"Germline"	""	""	"0"	""	""	"g.(57901626_57903821)_(57897915_57901351)del"	""	"pathogenic (recessive)"	""
"0000818024"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818025"	"3"	"90"	"16"	"57949172"	"57949172"	"subst"	"1.2208E-5"	"00006"	"CNGB1_000178"	"g.57949172C>T"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915268C>T"	""	"pathogenic (recessive)"	""
"0000818026"	"3"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00006"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic (recessive)"	""
"0000818027"	"1"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818028"	"3"	"90"	"16"	"57954364"	"57954364"	"del"	"0"	"00006"	"CNGB1_000272"	"g.57954364del"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57920460del"	""	"pathogenic (recessive)"	""
"0000818029"	"1"	"90"	"16"	"57937844"	"57937844"	"subst"	"0"	"00006"	"CNGB1_000177"	"g.57937844G>T"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903940G>T"	""	"pathogenic (recessive)"	""
"0000818030"	"1"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818031"	"1"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00006"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic (recessive)"	""
"0000818032"	"1"	"90"	"16"	"57938732"	"57938732"	"subst"	"8.12209E-6"	"00006"	"CNGB1_000259"	"g.57938732C>T"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904828C>T"	""	"pathogenic (recessive)"	""
"0000818033"	"1"	"90"	"16"	"57998062"	"57998062"	"subst"	"0"	"00006"	"CNGB1_000002"	"g.57998062G>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964158G>A"	""	"pathogenic (recessive)"	""
"0000818034"	"1"	"90"	"16"	"57949199"	"57949199"	"subst"	"0"	"00006"	"CNGB1_000263"	"g.57949199A>T"	""	"{PMID:Ba-Abbad 2019:30976726}, {PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915295A>T"	""	"pathogenic (recessive)"	""
"0000818035"	"3"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	""
"0000818036"	"1"	"90"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"00006"	"CNGB1_000006"	"g.57984367G>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950463G>A"	""	"pathogenic (recessive)"	""
"0000818037"	"1"	"90"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"00006"	"CNGB1_000006"	"g.57984367G>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950463G>A"	""	"pathogenic (recessive)"	""
"0000818038"	"2"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00006"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic (recessive)"	""
"0000818039"	"2"	"90"	"16"	"57931815"	"57931815"	"subst"	"0"	"00006"	"CNGB1_000176"	"g.57931815C>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57897911C>A"	""	"pathogenic (recessive)"	""
"0000818040"	"2"	"90"	"16"	"57994743"	"57994743"	"subst"	"4.082E-5"	"00006"	"CNGB1_000283"	"g.57994743C>T"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57960839C>T"	""	"pathogenic (recessive)"	""
"0000818041"	"2"	"90"	"16"	"57998062"	"57998062"	"subst"	"0"	"00006"	"CNGB1_000002"	"g.57998062G>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964158G>A"	""	"pathogenic (recessive)"	""
"0000818042"	"2"	"90"	"16"	"57996913"	"57996913"	"subst"	"4.07004E-6"	"00006"	"CNGB1_000286"	"g.57996913G>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57963009G>A"	""	"pathogenic (recessive)"	""
"0000818043"	"2"	"90"	"16"	"57993889"	"57993889"	"subst"	"0"	"00006"	"CNGB1_000001"	"g.57993889G>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57959985G>A"	""	"pathogenic (recessive)"	""
"0000818044"	"2"	"90"	"16"	"57992344"	"57992344"	"subst"	"0"	"00006"	"CNGB1_000282"	"g.57992344C>G"	""	"{PMID:Ba-Abbad 2019:30976726}, {PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57958440C>G"	""	"pathogenic (recessive)"	""
"0000818045"	"2"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818046"	"2"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Afshar 2020:31570810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818056"	"0"	"10"	"16"	"57998345"	"57998345"	"subst"	"0.771175"	"00006"	"CNGB1_000010"	"g.57998345C>T"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"BsmI"	"IVS3+46G>A"	""	"Germline"	""	""	"0"	""	""	"g.57964441C>T"	""	"benign"	""
"0000818057"	"0"	"10"	"16"	"57996932"	"57996932"	"subst"	"0.431186"	"00006"	"CNGB1_000011"	"g.57996932G>A"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57963028G>A"	""	"benign"	""
"0000818058"	"0"	"10"	"16"	"57984480"	"57984480"	"subst"	"0"	"00006"	"CNGB1_000012"	"g.57984480T>C"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"StyI"	"IVS12–36A>G"	""	"Germline"	""	""	"0"	""	""	"g.57950576T>C"	""	"benign"	""
"0000818059"	"0"	"10"	"16"	"57974240"	"57974240"	"subst"	"0.495003"	"00006"	"CNGB1_000013"	"g.57974240G>A"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	""	"IVS14–15C>T"	""	"Germline"	""	""	"0"	""	""	"g.57940336G>A"	""	"benign"	""
"0000818060"	"0"	"10"	"16"	"57957216"	"57957216"	"subst"	"0.0446438"	"00006"	"CNGB1_000014"	"g.57957216A>G"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"BsrI"	""	""	"Germline"	""	""	"0"	""	""	"g.57923312A>G"	""	"benign"	""
"0000818061"	"0"	"10"	"16"	"57957138"	"57957138"	"subst"	"0.641321"	"00006"	"CNGB1_000015"	"g.57957138G>C"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"BsrI"	"IVS18+39C>G"	""	"Germline"	""	""	"0"	""	""	"g.57923234G>C"	""	"benign"	""
"0000818062"	"0"	"10"	"16"	"57951394"	"57951394"	"subst"	"0.271597"	"00006"	"CNGB1_000016"	"g.57951394T>G"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"HincII"	"IVS20–14A>C"	""	"Germline"	""	""	"0"	""	""	"g.57917490T>G"	""	"benign"	""
"0000818063"	"0"	"10"	"16"	"57949224"	"57949224"	"subst"	"0.130752"	"00006"	"CNGB1_000017"	"g.57949224G>T"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"MnlI"	""	""	"Germline"	""	""	"0"	""	""	"g.57915320G>T"	""	"benign"	""
"0000818064"	"0"	"10"	"16"	"57937856"	"57937856"	"subst"	"0.117184"	"00006"	"CNGB1_000018"	"g.57937856G>T"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	""	"c.2664G>A"	""	"Germline"	""	""	"0"	""	""	"g.57903952G>T"	""	"benign"	""
"0000818065"	"0"	"10"	"16"	"57937788"	"57937788"	"subst"	"0.108349"	"00006"	"CNGB1_000019"	"g.57937788T>C"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"AvaII"	""	""	"Germline"	""	""	"0"	""	""	"g.57903884T>C"	""	"benign"	""
"0000818066"	"0"	"10"	"16"	"57921728"	"57921728"	"subst"	"0"	"00006"	"CNGB1_000020"	"g.57921728A>G"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	""	"IVS32+7T>C"	""	"Germline"	""	""	"0"	""	""	"g.57887824A>G"	""	"benign"	""
"0000818067"	"0"	"10"	"16"	"57996960"	"57996960"	"subst"	"0.781906"	"00006"	"CNGB1_000022"	"g.57996960C>T"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"StyI"	"c.299A>G"	"variant found in cases and controls"	"Germline"	""	""	"0"	""	""	"g.57963056C>T"	""	"benign"	""
"0000818068"	"0"	"10"	"16"	"57954268"	"57954268"	"subst"	"0.635392"	"00006"	"CNGB1_000023"	"g.57954268A>G"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	"AccI"	"IVS19+23C>T"	"variant found in cases and controls"	"Germline"	""	""	"0"	""	""	"g.57920364A>G"	""	"benign"	""
"0000818069"	"0"	"10"	"16"	"57953010"	"57953010"	"subst"	"0.0443613"	"00006"	"CNGB1_000024"	"g.57953010C>G"	""	"{PMID:Bareil 2001:11379879}, {DOI:Bareil 2001:10.1007/s004390100496}"	""	"c.1950C>G"	"variant found in cases and controls"	"Germline"	""	""	"0"	""	""	"g.57919106C>G"	""	"benign"	""
"0000818072"	"0"	"90"	"16"	"57921758"	"57921758"	"subst"	"0"	"00006"	"CNGB1_000025"	"g.57921758C>T"	""	"{PMID:Becirovic 2010:20126465}"	""	"3444+1G>A"	"in vitro minigene splicing assay HEK293 cells"	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000818073"	"3"	"90"	"16"	"57984380"	"57984380"	"subst"	"0"	"00006"	"CNGB1_000248"	"g.57984380C>T"	""	"{PMID:Fradin 2016:26901671}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818076"	"1"	"90"	"16"	"57998062"	"57998062"	"subst"	"0"	"00006"	"CNGB1_000002"	"g.57998062G>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57964158G>A"	""	"pathogenic (recessive)"	""
"0000818077"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818078"	"1"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818079"	"3"	"90"	"16"	"57993790"	"57993790"	"subst"	"0"	"00006"	"CNGB1_000003"	"g.57993790A>T"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57959886A>T"	""	"pathogenic (recessive)"	""
"0000818080"	"1"	"90"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"00006"	"CNGB1_000006"	"g.57984367G>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950463G>A"	""	"pathogenic (recessive)"	""
"0000818081"	"1"	"90"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"00006"	"CNGB1_000006"	"g.57984367G>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57950463G>A"	""	"pathogenic (recessive)"	""
"0000818082"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818083"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818084"	"3"	"90"	"16"	"57950065"	"57950065"	"subst"	"4.06101E-6"	"00006"	"CNGB1_000008"	"g.57950065G>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57916161G>A"	""	"pathogenic (recessive)"	""
"0000818085"	"3"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00006"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Hull 2017:28056120}"	""	"c.2544dupG"	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic (recessive)"	""
"0000818086"	"2"	"90"	"16"	"57993889"	"57993889"	"subst"	"0"	"00006"	"CNGB1_000001"	"g.57993889G>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57959985G>A"	""	"pathogenic (recessive)"	""
"0000818087"	"2"	"90"	"16"	"57931402"	"57931405"	"dup"	"0"	"00006"	"CNGB1_000005"	"g.57931402_57931405dup"	""	"{PMID:Hull 2017:28056120}"	""	"c.3142_3143insGTGG"	""	"Germline"	""	""	"0"	""	""	"g.57897498_57897501dup"	""	"pathogenic (recessive)"	""
"0000818088"	"2"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818089"	"2"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Hull 2017:28056120}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818090"	"11"	"90"	"16"	"57953043"	"57953043"	"subst"	"4.06114E-6"	"00006"	"CNGB1_000270"	"g.57953043C>T"	""	"{PMID:Banerjee 2017:29179439}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818091"	"21"	"90"	"16"	"57946842"	"57946842"	"subst"	"8.12328E-6"	"00006"	"CNGB1_000205"	"g.57946842G>T"	""	"{PMID:Banerjee 2017:29179439}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818092"	"1"	"50"	"16"	"57950040"	"57950040"	"subst"	"1.21829E-5"	"00006"	"CNGB1_000232"	"g.57950040C>T"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57916136C>T"	""	"VUS"	""
"0000818093"	"1"	"50"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"VUS"	""
"0000818094"	"3"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57911752C>T"	""	"pathogenic (recessive)"	""
"0000818095"	"1"	"50"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"VUS"	""
"0000818096"	"1"	"50"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"VUS"	""
"0000818097"	"3"	"50"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"VUS"	""
"0000818098"	"1"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	""
"0000818099"	"3"	"90"	"16"	"57973394"	"57973394"	"subst"	"0"	"00006"	"CNGB1_000277"	"g.57973394G>A"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57939490G>A"	""	"pathogenic (recessive)"	""
"0000818100"	"3"	"90"	"16"	"57938729"	"57938730"	"ins"	"0"	"00006"	"CNGB1_000105"	"g.57938729_57938730insT"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904825_57904826insT"	""	"pathogenic (recessive)"	""
"0000818101"	"2"	"90"	"16"	"57937757"	"57937757"	"subst"	"0"	"00006"	"CNGB1_000254"	"g.57937757G>C"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57903853G>C"	""	"pathogenic (recessive)"	""
"0000818102"	"2"	"90"	"16"	"57931745"	"57931751"	"del"	"0"	"00006"	"CNGB1_000249"	"g.57931745_57931751del"	""	"{PMID:Charbel Issa 2018:29800053}"	""	"3044_3050delGGAAATC"	""	"Germline"	""	""	"0"	""	""	"g.57897841_57897847del"	""	"pathogenic (recessive)"	""
"0000818103"	"2"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57911752C>T"	""	"pathogenic (recessive)"	""
"0000818104"	"2"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Charbel Issa 2018:29800053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57911752C>T"	""	"pathogenic (recessive)"	""
"0000818105"	"2"	"90"	"16"	"57931402"	"57931405"	"dup"	"0"	"00006"	"CNGB1_000005"	"g.57931402_57931405dup"	""	"{PMID:Charbel Issa 2018:29800053}"	""	"3139_3142dupGTGG"	""	"Germline"	""	""	"0"	""	""	"g.57897498_57897501dup"	""	"pathogenic (recessive)"	""
"0000818106"	"3"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00006"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.3150delG"	""	"Germline"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic (recessive)"	""
"0000818107"	"3"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00006"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.3150delG"	""	"Germline"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic (recessive)"	""
"0000818108"	"1"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"pathogenic (recessive)"	""
"0000818109"	"1"	"90"	"16"	"57974234"	"57974234"	"subst"	"0"	"00006"	"CNGB1_000279"	"g.57974234C>T"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	""	"effect on splicing derived from minigene splicing assay"	"Germline"	""	""	"0"	""	""	"g.57940330C>T"	""	"pathogenic (recessive)"	""
"0000818110"	"1"	"90"	"16"	"57938727"	"57938727"	"dup"	"0"	"00006"	"CNGB1_000258"	"g.57938727dup"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.2544_2545insC"	""	"Germline"	""	""	"0"	""	""	"g.57904823dup"	""	"pathogenic (recessive)"	""
"0000818111"	"1"	"90"	"16"	"57938727"	"57938727"	"dup"	"0"	"00006"	"CNGB1_000258"	"g.57938727dup"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.2544_2545insC"	""	"Germline"	""	""	"0"	""	""	"g.57904823dup"	""	"pathogenic (recessive)"	""
"0000818112"	"1"	"90"	"16"	"57953064"	"57953064"	"subst"	"8.12255E-6"	"00006"	"CNGB1_000218"	"g.57953064G>T"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57919160G>T"	""	"pathogenic (recessive)"	""
"0000818113"	"3"	"90"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"pathogenic (recessive)"	""
"0000818114"	"2"	"90"	"16"	"57938764"	"57938764"	"subst"	"4.0621E-6"	"00006"	"CNGB1_000211"	"g.57938764G>T"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904860G>T"	""	"pathogenic (recessive)"	""
"0000818115"	"2"	"90"	"16"	"57949241"	"57949241"	"subst"	"0"	"00006"	"CNGB1_000264"	"g.57949241T>C"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57915337T>C"	""	"pathogenic (recessive)"	""
"0000818116"	"2"	"90"	"16"	"57994761"	"57994761"	"dup"	"0"	"00006"	"CNGB1_000284"	"g.57994761dup"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.522_523insC"	""	"Germline"	""	""	"0"	""	""	"g.57960857dup"	""	"pathogenic (recessive)"	""
"0000818117"	"2"	"90"	"16"	"57994761"	"57994761"	"dup"	"0"	"00006"	"CNGB1_000284"	"g.57994761dup"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.522_523insC"	""	"Germline"	""	""	"0"	""	""	"g.57960857dup"	""	"pathogenic (recessive)"	""
"0000818118"	"2"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00006"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"c.3150delG"	""	"Germline"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic (recessive)"	""
"0000818119"	"1"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818120"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818121"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818122"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818123"	"1"	"90"	"16"	"57938733"	"57938733"	"dup"	"0"	"00006"	"CNGB1_000007"	"g.57938733dup"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57904829dup"	""	"pathogenic (recessive)"	""
"0000818124"	"3"	"90"	"16"	"57951304"	"57951304"	"subst"	"0"	"00006"	"CNGB1_000292"	"g.57951304C>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917400C>T"	""	"pathogenic (recessive)"	""
"0000818125"	"3"	"90"	"16"	"57965724"	"57965724"	"subst"	"0"	"00006"	"CNGB1_000293"	"g.57965724G>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57931820G>T"	""	"pathogenic (recessive)"	""
"0000818126"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818127"	"1"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57911752C>T"	""	"pathogenic (recessive)"	""
"0000818128"	"1"	"90"	"16"	"57945656"	"57945656"	"subst"	"0"	"00006"	"CNGB1_000223"	"g.57945656C>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.57911752C>T"	""	"pathogenic (recessive)"	""
"0000818129"	"1"	"90"	"16"	"57994384"	"57994384"	"subst"	"1.23155E-5"	"00006"	"CNGB1_000246"	"g.57994384A>G"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57960480A>G"	""	"pathogenic (recessive)"	""
"0000818130"	"2"	"50"	"16"	"57951211"	"57951211"	"subst"	"2.84409E-5"	"00006"	"CNGB1_000291"	"g.57951211G>C"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917307G>C"	""	"pathogenic (recessive)"	""
"0000818131"	"2"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic (recessive)"	""
"0000818132"	"2"	"90"	"16"	"57951246"	"57951246"	"subst"	"8.12275E-6"	"00006"	"CNGB1_000245"	"g.57951246A>G"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917342A>G"	""	"pathogenic (recessive)"	""
"0000818133"	"2"	"90"	"16"	"57951246"	"57951246"	"subst"	"8.12275E-6"	"00006"	"CNGB1_000245"	"g.57951246A>G"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57917342A>G"	""	"pathogenic (recessive)"	""
"0000818134"	"2"	"50"	"16"	"57946932"	"57946932"	"subst"	"8.19484E-5"	"00006"	"CNGB1_000247"	"g.57946932C>T"	""	"{PMID:Radojevic 2021:33465333}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.57913028C>T"	""	"pathogenic (recessive)"	""
"0000818136"	"3"	"90"	"16"	"57996774"	"57996774"	"del"	"0"	"00006"	"CNGB1_000285"	"g.57996774del"	""	"{PMID:Xiang 2018:30451805}"	""	"385delC"	""	"Germline"	""	""	"0"	""	""	"g.57962870del"	""	"pathogenic (recessive)"	""
"0000818137"	"3"	"90"	"16"	"57938763"	"57938765"	"delins"	"0"	"00006"	"CNGB1_000289"	"g.(57938763_57938765delinsGTAGCTAG)"	""	"{PMID:Petersen-Jones 2018:29202463}"	""	"2387delA;2389_2390insAGCTAC"	""	"animal model"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818497"	"1"	"90"	"16"	"57938727"	"57938727"	"dup"	"0"	"00006"	"CNGB1_000258"	"g.57938727dup"	""	"{PMID:Lingao 2016:26894784}"	""	"L849fs"	""	"Germline"	""	""	"0"	""	""	"g.57904823dup"	""	"pathogenic (recessive)"	""
"0000818498"	"1"	"90"	"16"	"57938727"	"57938727"	"dup"	"0"	"00006"	"CNGB1_000258"	"g.57938727dup"	""	"{PMID:Lingao 2016:26894784}"	""	"L849fs"	""	"Germline"	""	""	"0"	""	""	"g.57904823dup"	""	"pathogenic (recessive)"	""
"0000818505"	"2"	"90"	"16"	"57994761"	"57994761"	"dup"	"0"	"00006"	"CNGB1_000284"	"g.57994761dup"	""	"{PMID:Lingao 2016:26894784}"	""	"K175fs"	""	"Germline"	""	""	"0"	""	""	"g.57960857dup"	""	"pathogenic (recessive)"	""
"0000818506"	"2"	"90"	"16"	"57994761"	"57994761"	"dup"	"0"	"00006"	"CNGB1_000284"	"g.57994761dup"	""	"{PMID:Lingao 2016:26894784}"	""	"K175fs"	""	"Germline"	""	""	"0"	""	""	"g.57960857dup"	""	"pathogenic (recessive)"	""
"0000818507"	"1"	"90"	"16"	"57938669"	"57938669"	"subst"	"8.12209E-6"	"00006"	"CNGB1_000256"	"g.57938669C>T"	""	"{PMID:Alshamrani 2020:32613137}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	".57904765C>T"	""	"pathogenic (recessive)"	""
"0000818508"	"2"	"90"	"16"	"57951235"	"57951246"	""	"0"	"00006"	"CNGB1_000266"	"g.57951235_57951246dup"	""	"{PMID:Alshamrani 2020:32613137}"	""	"2093_2104dupGCGACCTCATCT"	""	"Germline"	"yes"	""	"0"	""	""	"g.57917331_57917342dup"	""	"pathogenic (recessive)"	""
"0000818509"	"1"	"50"	"16"	"57938697"	"57938697"	"subst"	"4.06098E-6"	"00006"	"CNGB1_000257"	"g.57938697C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57904793C>T"	""	"VUS"	"ACMG"
"0000818510"	"1"	"50"	"16"	"57953019"	"57953019"	"subst"	"1.21842E-5"	"00006"	"CNGB1_000269"	"g.57953019G>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57919115G>T"	""	"VUS"	"ACMG"
"0000818511"	"1"	"90"	"16"	"57935457"	"57935457"	"del"	"8.12183E-6"	"00006"	"CNGB1_000253"	"g.57935457del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57901553del"	""	"pathogenic (recessive)"	"ACMG"
"0000818512"	"3"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PS3, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818513"	"1"	"50"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"00006"	"CNGB1_000127"	"g.57998386C>G"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57964482C>G"	""	"VUS"	"ACMG"
"0000818514"	"1"	"50"	"16"	"57998386"	"57998386"	"subst"	"4.87476E-5"	"00006"	"CNGB1_000127"	"g.57998386C>G"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57964482C>G"	""	"VUS"	"ACMG"
"0000818515"	"1"	"90"	"16"	"57935457"	"57935457"	"del"	"8.12183E-6"	"00006"	"CNGB1_000253"	"g.57935457del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57901553del"	""	"pathogenic (recessive)"	"ACMG"
"0000818516"	"1"	"50"	"16"	"58001027"	"58001027"	"subst"	"0"	"00006"	"CNGB1_000288"	"g.58001027C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57967123C>T"	""	"VUS"	"ACMG"
"0000818517"	"1"	"50"	"16"	"57946883"	"57946883"	"subst"	"0"	"00006"	"CNGB1_000166"	"g.57946883C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57912979C>T"	""	"VUS"	"ACMG"
"0000818518"	"3"	"50"	"16"	"57938717"	"57938717"	"subst"	"1.2183E-5"	"00006"	"CNGB1_000046"	"g.57938717G>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57904813G>A"	""	"VUS"	"ACMG"
"0000818519"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818520"	"1"	"90"	"16"	"57937725"	"57937725"	"subst"	"8.53672E-5"	"00006"	"CNGB1_000034"	"g.57937725C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57903821C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818521"	"3"	"50"	"16"	"57937858"	"57937858"	"subst"	"0.000239988"	"00006"	"CNGB1_000255"	"g.57937858C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57903954C>T"	""	"VUS"	"ACMG"
"0000818522"	"1"	"90"	"16"	"57992319"	"57992319"	"subst"	"0"	"00006"	"CNGB1_000281"	"g.57992319C>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57958415C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818523"	"1"	"90"	"16"	"57996913"	"57996913"	"subst"	"4.07004E-6"	"00006"	"CNGB1_000286"	"g.57996913G>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57963009G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818524"	"3"	"50"	"16"	"57954451"	"57954451"	"subst"	"4.08794E-6"	"00006"	"CNGB1_000274"	"g.57954451G>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57920547G>C"	""	"VUS"	"ACMG"
"0000818525"	"3"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818526"	"3"	"50"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00006"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PM3, PP3"	"Germline"	""	""	"0"	""	""	"g.57901442C>T"	""	"VUS"	"ACMG"
"0000818527"	"3"	"50"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00006"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PM3, PP3"	"Germline"	""	""	"0"	""	""	"g.57901442C>T"	""	"VUS"	"ACMG"
"0000818528"	"1"	"90"	"16"	"57950065"	"57950065"	"subst"	"4.06101E-6"	"00006"	"CNGB1_000008"	"g.57950065G>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57916161G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818529"	"1"	"90"	"16"	"57931403"	"57931421"	"del"	"0"	"00006"	"CNGB1_000080"	"g.57931403_57931421del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57897499_57897517del"	""	"pathogenic (recessive)"	"ACMG"
"0000818530"	"1"	"90"	"16"	"57973387"	"57973387"	"subst"	"0"	"00006"	"CNGB1_000276"	"g.57973387C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1, PP3"	"Germline"	""	""	"0"	""	""	"g.57939483C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818531"	"1"	"90"	"16"	"57973387"	"57973387"	"subst"	"0"	"00006"	"CNGB1_000276"	"g.57973387C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1, PP3"	"Germline"	""	""	"0"	""	""	"g.57939483C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818532"	"1"	"90"	"16"	"57973489"	"57973489"	"dup"	"0"	"00006"	"CNGB1_000278"	"g.57973489dup"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57939585dup"	""	"pathogenic (recessive)"	"ACMG"
"0000818533"	"3"	"70"	"16"	"57949173"	"57949173"	"subst"	"4.06583E-6"	"00006"	"CNGB1_000028"	"g.57949173G>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PM3, PP1, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57915269G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818534"	"3"	"90"	"16"	"57946900"	"57946900"	"subst"	"4.06825E-6"	"00006"	"CNGB1_000262"	"g.57946900T>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1"	"Germline"	""	""	"0"	""	""	"g.57912996T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818535"	"3"	"90"	"16"	"57984380"	"57984380"	"subst"	"0"	"00006"	"CNGB1_000248"	"g.57984380C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1, PP3"	"Germline"	""	""	"0"	""	""	"g.57950476C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818536"	"3"	"90"	"16"	"57996944"	"57996944"	"subst"	"0"	"00006"	"CNGB1_000287"	"g.57996944C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57963040C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818537"	"3"	"90"	"16"	"57937755"	"57937758"	"del"	"0"	"00006"	"CNGB1_000032"	"g.57937755_57937758del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57903851_57903854del"	""	"pathogenic (recessive)"	"ACMG"
"0000818538"	"3"	"90"	"16"	"57946850"	"57946850"	"subst"	"0"	"00006"	"CNGB1_000261"	"g.57946850T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1"	"Germline"	""	""	"0"	""	""	"g.57912946T>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818539"	"3"	"90"	"16"	"57957207"	"57957207"	"subst"	"4.06729E-6"	"00006"	"CNGB1_000275"	"g.57957207C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57923303C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818540"	"1"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00006"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic (recessive)"	"ACMG"
"0000818541"	"1"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818542"	"3"	"70"	"16"	"57935266"	"57935266"	"subst"	"1.21884E-5"	"00006"	"CNGB1_000251"	"g.57935266A>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP1, PP3"	"Germline"	""	""	"0"	""	""	"g.57901362A>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818543"	"2"	"50"	"16"	"57953019"	"57953019"	"subst"	"1.21842E-5"	"00006"	"CNGB1_000269"	"g.57953019G>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57919115G>T"	""	"VUS"	"ACMG"
"0000818544"	"2"	"90"	"16"	"57953001"	"57953001"	"subst"	"1.21863E-5"	"00006"	"CNGB1_000268"	"g.57953001A>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57919097A>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818545"	"2"	"50"	"16"	"57951166"	"57951166"	"subst"	"2.91533E-5"	"00006"	"CNGB1_000265"	"g.57951166A>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM3, PP3"	"Germline"	""	""	"0"	""	""	"g.57917262A>C"	""	"VUS"	"ACMG"
"0000818546"	"2"	"50"	"16"	"57998386"	"57998386"	"subst"	"8.1246E-6"	"00006"	"CNGB1_000294"	"g.57998386C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57964482C>T"	""	"VUS"	"ACMG"
"0000818547"	"2"	"90"	"16"	"57946900"	"57946900"	"subst"	"4.06825E-6"	"00006"	"CNGB1_000262"	"g.57946900T>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1"	"Germline"	""	""	"0"	""	""	"g.57912996T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818548"	"2"	"90"	"16"	"57946900"	"57946900"	"subst"	"4.06825E-6"	"00006"	"CNGB1_000262"	"g.57946900T>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP1"	"Germline"	""	""	"0"	""	""	"g.57912996T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818549"	"2"	"90"	"16"	"57945655"	"57945655"	"subst"	"0"	"00006"	"CNGB1_000260"	"g.57945655A>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57911751A>C"	""	"pathogenic (recessive)"	"ACMG"
"0000818550"	"2"	"50"	"16"	"57938771"	"57938771"	"subst"	"1.21884E-5"	"00006"	"CNGB1_000049"	"g.57938771C>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57904867C>A"	""	"VUS"	"ACMG"
"0000818551"	"2"	"50"	"16"	"57937858"	"57937858"	"subst"	"0.000239988"	"00006"	"CNGB1_000255"	"g.57937858C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57903954C>T"	""	"VUS"	"ACMG"
"0000818552"	"2"	"90"	"16"	"57935519"	"57935519"	"del"	"8.12783E-6"	"00006"	"CNGB1_000199"	"g.57935519del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57901615del"	""	"pathogenic (recessive)"	"ACMG"
"0000818553"	"2"	"50"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00006"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM2, PM3, PP3"	"Germline"	""	""	"0"	""	""	"g.57901442C>T"	""	"VUS"	"ACMG"
"0000818554"	"2"	"50"	"16"	"57935311"	"57935311"	"subst"	"3.24878E-5"	"00006"	"CNGB1_000244"	"g.57935311A>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57901407A>C"	""	"VUS"	"ACMG"
"0000818555"	"2"	"50"	"16"	"57935311"	"57935311"	"subst"	"3.24878E-5"	"00006"	"CNGB1_000244"	"g.57935311A>C"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57901407A>C"	""	"VUS"	"ACMG"
"0000818556"	"2"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818557"	"2"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818558"	"2"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818559"	"2"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818560"	"2"	"90"	"16"	"57931395"	"57931395"	"del"	"0"	"00006"	"CNGB1_000198"	"g.57931395del"	""	"{PMID:Nassisi 2021:33847019}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57897491del"	""	"pathogenic (recessive)"	"ACMG"
"0000818965"	"3"	"70"	"16"	"57937725"	"57946899"	"del"	"0"	"00000"	"CNGB1_000290"	"g.(57935530_57937725)_(57946899_57949152)del"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr16:57937722–57946903"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818966"	"3"	"70"	"16"	"57937725"	"57946899"	"del"	"0"	"00000"	"CNGB1_000290"	"g.(57935530_57937725)_(57946899_57949152)del"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr16:57937722–57946903"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000819045"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Dineiro 2020:32483926}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	"ACMG"
"0000819053"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Dineiro 2020:32483926}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	"ACMG"
"0000819054"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Dineiro 2020:32483926}"	""	"CNGB1 c.2957A>T, p.(Asn986Ile)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"pathogenic"	"ACMG"
"0000819667"	"1"	"70"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.413-1G>A/p.?, variant 2: c.3139_3142dup/ p.A1048Gfs*13"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57962611C>T"	""	"likely pathogenic"	""
"0000820015"	"1"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2957A>T/p.N986I, variant 2: c.2794+1G>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000820151"	"1"	"70"	"16"	"57938669"	"57938669"	"subst"	"8.12209E-6"	"00000"	"CNGB1_000256"	"g.57938669C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2603G>A/p.G868D, variant 2: c.2603G>A/p.G868D"	"possibly solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57904765C>T"	""	"likely pathogenic"	""
"0000820212"	"1"	"70"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00000"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2893-7G>A/p.?, variant 2: c.2893-7G>A/p.?"	"possibly solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901442C>T"	""	"likely pathogenic"	""
"0000820230"	"1"	"70"	"16"	"57996944"	"57996944"	"subst"	"0"	"00000"	"CNGB1_000287"	"g.57996944C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.315G>A/p.W105*, variant 2: c.315G>A/p.W105*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57963040C>T"	""	"likely pathogenic"	""
"0000820233"	"1"	"70"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00000"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2893-7G>A/p.?, variant 2: c.2893-7G>A/p.?"	"possibly solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901442C>T"	""	"likely pathogenic"	""
"0000820358"	"1"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2957A>T/p.N986I, variant 2: c.3044_3050del/p.G1015Vfs*4"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901371T>A"	""	"likely pathogenic"	""
"0000820430"	"1"	"70"	"16"	"57950040"	"57950040"	"subst"	"1.21829E-5"	"00000"	"CNGB1_000232"	"g.57950040C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2210G>A/p.R737H, variant 2: c.2763C>G/p.Y921*"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57916136C>T"	""	"likely pathogenic"	""
"0000820540"	"1"	"70"	"16"	"57935457"	"57935457"	"del"	"8.12183E-6"	"00000"	"CNGB1_000253"	"g.57935457del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2867del/p.I956Tfs*15, variant 2: c.2893-7G>A/p.?"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901553del"	""	"likely pathogenic"	""
"0000820693"	"1"	"70"	"16"	"57931402"	"57931405"	"dup"	"0"	"00000"	"CNGB1_000005"	"g.57931402_57931405dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.413-1G>A/p.?, variant 2: c.3139_3142dup/ p.A1048Gfs*13"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57897498_57897501dup"	""	"likely pathogenic"	""
"0000820787"	"1"	"70"	"16"	"57937725"	"57937725"	"subst"	"8.53672E-5"	"00000"	"CNGB1_000034"	"g.57937725C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2957A>T/p.N986I, variant 2: c.2794+1G>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57903821C>T"	""	"likely pathogenic"	""
"0000820883"	"1"	"70"	"16"	"57931745"	"57931751"	"del"	"0"	"00000"	"CNGB1_000249"	"g.57931745_57931751del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2957A>T/p.N986I, variant 2: c.3044_3050del/p.G1015Vfs*4"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57897841_57897847del"	""	"likely pathogenic"	""
"0000820912"	"1"	"70"	"16"	"57937757"	"57937757"	"subst"	"0"	"00000"	"CNGB1_000254"	"g.57937757G>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2210G>A/p.R737H, variant 2: c.2763C>G/p.Y921*"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57903853G>C"	""	"likely pathogenic"	""
"0000820963"	"1"	"70"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"00000"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CNGB1, variant 1: c.2867del/p.I956Tfs*15, variant 2: c.2893-7G>A/p.?"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57901442C>T"	""	"likely pathogenic"	""
"0000821215"	"3"	"70"	"16"	"57950065"	"57950065"	"subst"	"4.06101E-6"	"00000"	"CNGB1_000008"	"g.57950065G>A"	""	"{PMID:Turro 2020:32581362}"	""	"CNGB1 c.2185C>T, p.Arg729Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57916161G>A"	""	"likely pathogenic"	""
"0000821216"	"3"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Turro 2020:32581362}"	""	"CNGB1 c.413-1G>A,"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic"	""
"0000821217"	"0"	"70"	"16"	"57937844"	"57937844"	"subst"	"0"	"00000"	"CNGB1_000177"	"g.57937844G>T"	""	"{PMID:Turro 2020:32581362}"	""	"CNGB1 c.2676C>A, p.Tyr892Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57903940G>T"	""	"likely pathogenic"	""
"0000821218"	"3"	"70"	"16"	"57949172"	"57949172"	"subst"	"1.2208E-5"	"00000"	"CNGB1_000178"	"g.57949172C>T"	""	"{PMID:Turro 2020:32581362}"	""	"CNGB1 c.2285G>A, p.Arg762His"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57915268C>T"	""	"likely pathogenic"	""
"0000821539"	"0"	"70"	"16"	"57931815"	"57931815"	"subst"	"0"	"00000"	"CNGB1_000176"	"g.57931815C>A"	""	"{PMID:Turro 2020:32581362}"	""	"CNGB1 c.2980G>T, p.Glu994Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57897911C>A"	""	"likely pathogenic"	""
"0000822050"	"3"	"70"	"16"	"57949164"	"57949164"	"subst"	"2.03436E-5"	"00000"	"CNGB1_000188"	"g.57949164G>A"	""	"{PMID:Habibi 2020:32641690}"	""	"CNGB1 c.[2293C > T];[2293C > T], p.[R765C];[R765C]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.57915260G>A"	""	"likely pathogenic"	""
"0000822409"	"0"	"70"	"16"	"57954434"	"57954434"	"subst"	"8.15368E-6"	"00000"	"CNGB1_000295"	"g.57954434G>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.1658C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822410"	"0"	"70"	"16"	"57937858"	"57937858"	"subst"	"0.000239988"	"00000"	"CNGB1_000255"	"g.57937858C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.2662G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822942"	"0"	"70"	"16"	"57984346"	"57984346"	"subst"	"0"	"00000"	"CNGB1_000297"	"g.57984346G>A"	""	"{PMID:Méjécase 2020:32783370}"	""	"CNGB1 c.973C>T p.(Gln325*)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57950442G>A"	""	"likely pathogenic"	""
"0000822978"	"0"	"70"	"16"	"57931820"	"57931820"	"del"	"4.06138E-6"	"00000"	"CNGB1_000296"	"g.57931820del"	""	"{PMID:Méjécase 2020:32783370}"	""	"CNGB1 c.2977-2del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.57897916del"	""	"likely pathogenic"	""
"0000826049"	"0"	"70"	"16"	"57949173"	"57949173"	"subst"	"0"	"00000"	"CNGB1_000301"	"g.57949173G>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.2284C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826050"	"0"	"70"	"16"	"57949169"	"57949169"	"subst"	"0"	"00000"	"CNGB1_000300"	"g.57949169A>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.2288T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826500"	"3"	"90"	"16"	"57935293"	"57935293"	"subst"	"0"	"00000"	"CNGB1_000298"	"g.57935293T>A"	""	"{PMID:Fuster-Garcia-2019:31725169}"	""	"c.2939A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000826501"	"3"	"90"	"16"	"57935293"	"57935293"	"subst"	"0"	"00000"	"CNGB1_000298"	"g.57935293T>A"	""	"{PMID:Fuster-Garcia-2019:31725169}"	""	"c.2939A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000827205"	"0"	"90"	"16"	"57992317"	"57992324"	"del"	"0"	"00000"	"CNGB1_000303"	"g.57992317_57992324del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.827_834del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827206"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00000"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2957A>T"	""	"Germline"	""	"rs201162411"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827207"	"0"	"50"	"16"	"57938643"	"57938643"	"subst"	"5.68556E-5"	"00000"	"CNGB1_000144"	"g.57938643C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2629G>A"	""	"Germline"	""	"rs200963831"	"0"	""	""	""	""	"VUS"	""
"0000827208"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.413-1G>A"	""	"Germline"	""	"rs189234741"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827211"	"0"	"90"	"16"	"57953001"	"57953001"	"subst"	"1.21863E-5"	"00000"	"CNGB1_000268"	"g.57953001A>C"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1957+2T>G"	""	"Germline"	""	"rs755398007"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827212"	"0"	"90"	"16"	"57973373"	"57973373"	"subst"	"0"	"00000"	"CNGB1_000302"	"g.57973373C>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1333G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827213"	"0"	"50"	"16"	"57957189"	"57957189"	"subst"	"0.000346167"	"00000"	"CNGB1_000062"	"g.57957189G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1631C>T"	""	"Germline"	""	"rs145234666"	"0"	""	""	""	""	"VUS"	""
"0000827214"	"0"	"50"	"16"	"57996476"	"57996476"	"subst"	"8.12486E-6"	"00000"	"CNGB1_000304"	"g.57996476C>G"	""	"{PMID:Colombo-2020:33576794}"	""	"c.451G>C"	""	"Germline"	""	"rs761126116"	"0"	""	""	""	""	"VUS"	""
"0000827215"	"3"	"90"	"16"	"57937755"	"57937758"	"del"	"0"	"00000"	"CNGB1_000032"	"g.57937755_57937758del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2762_2765del"	""	"Germline"	""	"rs1064794342"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827216"	"3"	"50"	"16"	"57949161"	"57949161"	"subst"	"8.14193E-6"	"00000"	"CNGB1_000299"	"g.57949161A>G"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2296T>C"	""	"Germline"	""	"rs773682702"	"0"	""	""	""	""	"VUS"	""
"0000827217"	"3"	"50"	"16"	"57953011"	"57953011"	"subst"	"2.4371E-5"	"00000"	"CNGB1_000239"	"g.57953011G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1949C>T"	""	"Germline"	""	"rs780961773"	"0"	""	""	""	""	"VUS"	""
"0000828858"	"0"	"90"	"16"	"57957268"	"57957325"	"del"	"2.44121E-5"	"00000"	"CNGB1_000208"	"g.57957268_57957325del"	""	"{PMID:Chen 2021:43360855}"	""	"CNGB1 c.[1536-41_1552del];[?], V1: c.1536-41_1552del,"	"single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified"	"Unknown"	"?"	""	"0"	""	""	"g.57923364_57923421del"	""	"pathogenic"	"ACMG"
"0000834547"	"0"	"50"	"16"	"57937839"	"57937839"	"subst"	"0.000455037"	"00000"	"CNGB1_000184"	"g.57937839C>T"	""	"{PMID:Ng 2019:30948794}"	""	"CNGB1 c.2681G>A, p.R894H"	"heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.57903935C>T"	""	"VUS"	""
"0000854573"	"0"	"30"	"16"	"57945638"	"57945638"	"subst"	"0.00114611"	"02330"	"CNGB1_000306"	"g.57945638G>C"	""	""	""	"CNGB1(NM_001297.5):c.2492+19C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854574"	"0"	"30"	"16"	"58001101"	"58001101"	"subst"	"0.00252607"	"02330"	"CNGB1_000309"	"g.58001101C>T"	""	""	""	"CNGB1(NM_001297.5):c.90G>A (p.E30=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864870"	"0"	"30"	"16"	"57918283"	"57918283"	"subst"	"4.19277E-6"	"01943"	"CNGB1_000305"	"g.57918283T>C"	""	""	""	"CNGB1(NM_001297.4):c.3541A>G (p.T1181A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864871"	"0"	"30"	"16"	"57938746"	"57938746"	"subst"	"0.000207135"	"01943"	"CNGB1_000048"	"g.57938746G>A"	""	""	""	"CNGB1(NM_001297.4):c.2526C>T (p.T842=), CNGB1(NM_001297.5):c.2526C>T (p.T842=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864872"	"0"	"50"	"16"	"57954393"	"57954393"	"subst"	"0.000146251"	"01943"	"CNGB1_000307"	"g.57954393G>A"	""	""	""	"CNGB1(NM_001297.4):c.1699C>T (p.R567W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000864873"	"0"	"30"	"16"	"57965725"	"57965725"	"subst"	"0"	"01943"	"CNGB1_000308"	"g.57965725C>T"	""	""	""	"CNGB1(NM_001297.4):c.1430G>A (p.C477Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000893101"	"0"	"30"	"16"	"57921751"	"57921751"	"subst"	"0.000109956"	"02330"	"CNGB1_000213"	"g.57921751C>A"	""	""	""	"CNGB1(NM_001297.5):c.3462+8G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000893102"	"0"	"30"	"16"	"57949219"	"57949219"	"subst"	"1.62627E-5"	"02330"	"CNGB1_000310"	"g.57949219C>G"	""	""	""	"CNGB1(NM_001297.5):c.2238G>C (p.L746=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896661"	"0"	"90"	"16"	"57957268"	"57957325"	"del"	"2.44121E-5"	"00000"	"CNGB1_000208"	"g.57957268_57957325del"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000641 (genomes); GnomAD_All: 0.0000319"	"{PMID:Chen 2021:33608557}"	""	"CNGB1 c.[1536-41_1552del];[?]; p.?"	"heterozygous; single variant in a recessive gene, no second allele found"	"Germline"	"yes"	""	"0"	""	""	"g.57923364_57923421del"	""	"pathogenic"	""
"0000905954"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00000"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"CNGB1 c.413-1G>A, p.?"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic"	"ACMG"
"0000905955"	"0"	"90"	"16"	"57996913"	"57996913"	"subst"	"4.07004E-6"	"00000"	"CNGB1_000286"	"g.57996913G>A"	""	"{PMID:Zhu 2022:35456422}"	""	"CNGB1 c.346C>T, p.(Gln116*)"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.57963009G>A"	""	"pathogenic"	"ACMG"
"0000915790"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"04436"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2957A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916016"	"3"	"50"	"16"	"57951253"	"57951253"	"subst"	"0"	"04436"	"CNGB1_000314"	"g.57951253A>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2085T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916067"	"3"	"70"	"16"	"0"	"0"	""	"0"	"04436"	"CRYM_000000"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(2304+1_2305-1)_(2794+1_2795-1)del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916078"	"3"	"70"	"16"	"57974234"	"57974234"	"subst"	"0"	"04436"	"CNGB1_000279"	"g.57974234C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1122-9G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916095"	"1"	"70"	"16"	"57951234"	"57951234"	"subst"	"1.21849E-5"	"04436"	"CNGB1_000237"	"g.57951234A>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2104T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916096"	"2"	"70"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"04436"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2893-7G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916117"	"3"	"90"	"16"	"58001131"	"58001131"	"del"	"0"	"04436"	"CNGB1_000316"	"g.58001131del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.60del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916148"	"3"	"70"	"16"	"57935346"	"57935346"	"subst"	"4.46722E-5"	"04436"	"CNGB1_000252"	"g.57935346C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2893-7G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916223"	"1"	"70"	"16"	"57953001"	"57953001"	"subst"	"1.21863E-5"	"04436"	"CNGB1_000268"	"g.57953001A>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1957+2T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916224"	"2"	"90"	"16"	"57938728"	"57938728"	"dup"	"4.06105E-5"	"04436"	"CNGB1_000007"	"g.57938728dup"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2544dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916239"	"1"	"50"	"16"	"57998386"	"57998386"	"subst"	"8.1246E-6"	"04436"	"CNGB1_000294"	"g.57998386C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.217+5G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916240"	"2"	"50"	"16"	"57950041"	"57950041"	"subst"	"0.000686317"	"04436"	"CNGB1_000159"	"g.57950041G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2209C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916295"	"3"	"90"	"16"	"57949163"	"57949163"	"subst"	"8.15142E-6"	"04436"	"CNGB1_000313"	"g.57949163C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2294G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916366"	"1"	"50"	"16"	"57935455"	"57935455"	"subst"	"4.46682E-5"	"04436"	"CNGB1_000158"	"g.57935455C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2869G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916367"	"2"	"50"	"16"	"57921806"	"57921806"	"subst"	"2.84366E-5"	"04436"	"CNGB1_000311"	"g.57921806G>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3415C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916391"	"1"	"70"	"16"	"57996892"	"57996892"	"subst"	"0"	"04436"	"CNGB1_000315"	"g.57996892C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.367G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916392"	"2"	"70"	"16"	"57949172"	"57949172"	"subst"	"1.2208E-5"	"04436"	"CNGB1_000178"	"g.57949172C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2285G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916429"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"04436"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2957A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916600"	"1"	"90"	"16"	"57984367"	"57984367"	"subst"	"4.06095E-6"	"04436"	"CNGB1_000006"	"g.57984367G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.952C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916601"	"2"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"04436"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2957A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916765"	"1"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"04436"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.413-1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916766"	"2"	"70"	"16"	"57937867"	"57937867"	"del"	"4.07113E-6"	"04436"	"CNGB1_000312"	"g.57937867del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2653del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000921485"	"0"	"70"	"16"	"57931428"	"57931428"	"subst"	"0.00354056"	"01985"	"CNGB1_000038"	"g.57931428C>T"	""	"in submission"	""	""	""	"Germline"	""	"rs148999583"	"0"	""	""	"g.57897524C>T"	""	"likely pathogenic"	""
"0000926313"	"0"	"50"	"16"	"57921977"	"57921977"	"subst"	"0.000130943"	"02327"	"CNGB1_000317"	"g.57921977G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000933382"	"0"	"90"	"16"	"57998032"	"57998032"	"subst"	"4.06881E-6"	"04552"	"CNGB1_000320"	"g.57998032A>G"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV:855225}"	"likely pathogenic (recessive)"	"ACMG"
"0000933383"	"3"	"90"	"16"	"57998032"	"57998032"	"subst"	"4.06881E-6"	"04552"	"CNGB1_000320"	"g.57998032A>G"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV:166434}"	"likely pathogenic (recessive)"	"ACMG"
"0000933388"	"3"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"04552"	"CNGB1_000004"	"g.57935275T>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs201162411"	"0"	""	""	""	"{CV:965947}"	"pathogenic (recessive)"	"ACMG"
"0000933407"	"0"	"90"	"16"	"57954416"	"57954416"	"subst"	"1.21944E-5"	"04552"	"CNGB1_000319"	"g.57954416G>T"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV:1389912}"	"VUS"	"ACMG"
"0000933408"	"0"	"90"	"16"	"57954372"	"57954372"	"subst"	"0"	"04552"	"CNGB1_000318"	"g.57954372G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV:183262}"	"VUS"	"ACMG"
"0000953883"	"1"	"90"	"16"	"57938733"	"57938733"	"del"	"0"	"00006"	"CNGB1_000145"	"g.57938733del"	""	"{PMID:Kim 2021:34064005}"	""	"2544delG"	""	"Germline"	""	""	"0"	""	""	"g.57904829del"	""	"pathogenic (recessive)"	""
"0000953900"	"2"	"90"	"16"	"57983344"	"57983344"	"subst"	"0"	"00006"	"CNGB1_000321"	"g.57983344C>T"	""	"{PMID:Kim 2021:34064005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.57949440C>T"	""	"pathogenic (recessive)"	""
"0000958070"	"0"	"90"	"16"	"57937761"	"57937761"	"subst"	"0"	"00006"	"CNGB1_000173"	"g.57937761C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.57903857C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000958459"	"0"	"90"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"00006"	"CNGB1_000004"	"g.57935275T>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.57901371T>A"	"166891"	"pathogenic (recessive)"	"ACMG"
"0000958944"	"3"	"50"	"16"	"57950040"	"57950040"	"subst"	"1.21829E-5"	"00006"	"CNGB1_000232"	"g.57950040C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.57916136C>T"	""	"VUS"	"ACMG"
"0000959246"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5, PS4"	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000959462"	"0"	"90"	"16"	"57996515"	"57996515"	"subst"	"7.72722E-5"	"00006"	"CNGB1_000030"	"g.57996515C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5, PS4; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.57962611C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000968420"	"0"	"50"	"16"	"57938724"	"57938724"	"subst"	"0"	"02327"	"CNGB1_000322"	"g.57938724G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000968422"	"0"	"30"	"16"	"57950024"	"57950024"	"subst"	"0.000605091"	"02330"	"CNGB1_000323"	"g.57950024G>A"	""	""	""	"CNGB1(NM_001297.5):c.2217+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000968423"	"0"	"10"	"16"	"57950057"	"57950057"	"subst"	"0.357378"	"02327"	"CNGB1_000053"	"g.57950057G>A"	""	""	""	"CNGB1(NM_001297.5):c.2193C>T (p.N731=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000968427"	"0"	"30"	"16"	"57998068"	"57998068"	"subst"	"7.72012E-5"	"02327"	"CNGB1_000324"	"g.57998068G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000968428"	"0"	"70"	"16"	"57998108"	"57998108"	"subst"	"8.13147E-6"	"02327"	"CNGB1_000325"	"g.57998108T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981965"	"0"	"70"	"16"	"57935275"	"57935275"	"subst"	"0.0011861"	"02330"	"CNGB1_000004"	"g.57935275T>A"	""	""	""	"CNGB1(NM_001297.5):c.2957A>T (p.N986I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000987686"	"3"	"70"	"16"	"57938777"	"57938781"	"delins"	"0"	"04543"	"CNGB1_000031"	"g.57938777_57938781delinsGCC"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.57904873_57904877delinsGCC"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987687"	"3"	"70"	"16"	"57938777"	"57938781"	"delins"	"0"	"04543"	"CNGB1_000031"	"g.57938777_57938781delinsGCC"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.57904873_57904877delinsGCC"	""	"likely pathogenic (recessive)"	"ACMG"
"0001002446"	"0"	"50"	"16"	"58001190"	"58001190"	"subst"	"4.87531E-5"	"01804"	"CNGB1_000087"	"g.58001190T>A"	""	""	""	"CNGB1(NM_001297.4):c.1A>T (p.M1?, p.(Met1?))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015402"	"0"	"50"	"16"	"57938643"	"57938643"	"subst"	"5.68556E-5"	"02327"	"CNGB1_000144"	"g.57938643C>T"	""	""	""	"CNGB1(NM_001297.5):c.2629G>A (p.G877R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015403"	"0"	"90"	"16"	"57974224"	"57974225"	"ins"	"0"	"02330"	"CNGB1_000326"	"g.57974224_57974225insA"	""	""	""	"CNGB1(NM_001297.5):c.1122_1123insT (p.V375Cfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001041220"	"0"	"50"	"16"	"57983298"	"57983303"	"del"	"0"	"01804"	"CNGB1_000327"	"g.57983298_57983303del"	""	""	""	"CNGB1(NM_001297.5):c.1086_1091del (p.(Glu370_Glu371del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041221"	"0"	"30"	"16"	"57993968"	"57993968"	"subst"	"4.05061E-5"	"01804"	"CNGB1_000328"	"g.57993968C>T"	""	""	""	"CNGB1(NM_001297.5):c.585G>A (p.(Ala195=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CNGB1
## Count = 766
"{{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}}"
"0000125818"	"00005382"	"70"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88*)"	"4"
"0000125819"	"00005382"	"70"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Gln222*)"	"10"
"0000125866"	"00005382"	"70"	"761"	"2"	"761"	"2"	"c.761+2T>A"	"r.spl"	"p.?"	"10i"
"0000125868"	"00005382"	"50"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000125870"	"00005382"	"70"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048Glyfs*13)"	"31"
"0000126482"	"00005382"	"70"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318*)"	"13"
"0000126483"	"00005382"	"70"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Arg729*)"	"22"
"0000126484"	"00005382"	"70"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	"26"
"0000127762"	"00005382"	"90"	"2978"	"0"	"2978"	"0"	"c.2978G>T"	"r.(spl?)"	"p.(Gly993Val)"	"30"
"0000127779"	"00005382"	"10"	"1950"	"0"	"1950"	"0"	"c.1950G>C"	"r.(=)"	"p.(Pro650=)"	"20"
"0000127781"	"00005382"	"90"	"3462"	"1"	"3462"	"1"	"c.3462+1G>A"	"r.spl?"	"p.?"	"32i"
"0000127782"	"00005382"	"30"	"3462"	"7"	"3462"	"7"	"c.3462+7T>C"	"r.(=)"	"p.(=)"	"32i"
"0000127784"	"00005382"	"70"	"1589"	"0"	"1589"	"0"	"c.1589C>G"	"r.(?)"	"p.(Pro530Arg)"	"18"
"0000127785"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000127786"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000127787"	"00005382"	"90"	"2493"	"-2"	"2493"	"-2"	"c.2493-2A>G"	"r.spl"	"p.?"	"25i"
"0000127788"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	"6i"
"0000127789"	"00005382"	"90"	"2493"	"-2"	"2495"	"0"	"c.2493-2_2495delinsGGC"	"r.spl"	"p.(S831Rfs*2)"	"25i_26"
"0000158345"	"00005382"	"90"	"2493"	"-2"	"2495"	"0"	"c.2493-2_2495delinsGGC"	"r.spl"	"p.?"	"25i_26"
"0000170893"	"00005382"	"90"	"2762"	"0"	"2765"	"0"	"c.2762_2765del"	"r.(?)"	"p.(Tyr921Cysfs*15)"	"27"
"0000241252"	"00005382"	"70"	"2794"	"1"	"2794"	"1"	"c.2794+1G>A"	"r.spl"	"p.?"	""
"0000241253"	"00005382"	"50"	"3742"	"0"	"3742"	"0"	"c.3742del"	"r.(?)"	"p.(Glu124Argfs*8)"	""
"0000249211"	"00005382"	"10"	"3462"	"7"	"3462"	"7"	"c.3462+7T>C"	"r.(=)"	"p.(=)"	""
"0000255306"	"00005382"	"30"	"2794"	"7"	"2794"	"7"	"c.2794+7T>C"	"r.(=)"	"p.(=)"	""
"0000256120"	"00005382"	"50"	"2627"	"0"	"2627"	"0"	"c.2627T>G"	"r.(?)"	"p.(Ile876Ser)"	""
"0000256633"	"00005382"	"50"	"772"	"0"	"772"	"0"	"c.772T>C"	"r.(?)"	"p.(Trp258Arg)"	""
"0000264684"	"00005382"	"10"	"3768"	"0"	"3768"	"0"	"c.*12G>A"	"r.(=)"	"p.(=)"	""
"0000264685"	"00005382"	"10"	"1122"	"-18"	"1122"	"-18"	"c.1122-18C>T"	"r.(=)"	"p.(=)"	""
"0000264686"	"00005382"	"10"	"1179"	"0"	"1179"	"0"	"c.1179C>T"	"r.(?)"	"p.(Asp393=)"	""
"0000264687"	"00005382"	"10"	"123"	"0"	"123"	"0"	"c.123G>A"	"r.(?)"	"p.(Pro41=)"	""
"0000264688"	"00005382"	"10"	"1275"	"0"	"1275"	"0"	"c.1275C>G"	"r.(?)"	"p.(Ala425=)"	""
"0000264689"	"00005382"	"10"	"1500"	"0"	"1500"	"0"	"c.1500C>T"	"r.(?)"	"p.(Thr500=)"	""
"0000264690"	"00005382"	"30"	"1523"	"0"	"1523"	"0"	"c.1523C>T"	"r.(?)"	"p.(Ser508Leu)"	""
"0000264691"	"00005382"	"10"	"1580"	"0"	"1580"	"0"	"c.1580C>T"	"r.(?)"	"p.(Ala527Val)"	""
"0000264692"	"00005382"	"10"	"159"	"14"	"159"	"14"	"c.159+14C>T"	"r.(=)"	"p.(=)"	""
"0000264693"	"00005382"	"50"	"1790"	"0"	"1790"	"0"	"c.1790G>T"	"r.(?)"	"p.(Ser597Ile)"	""
"0000264694"	"00005382"	"10"	"1958"	"-18"	"1958"	"-18"	"c.1958-18C>T"	"r.(=)"	"p.(=)"	""
"0000264695"	"00005382"	"10"	"2370"	"-9"	"2370"	"-9"	"c.2370-9C>T"	"r.(=)"	"p.(=)"	""
"0000264697"	"00005382"	"30"	"2501"	"0"	"2501"	"0"	"c.2501G>T"	"r.(?)"	"p.(Arg834Leu)"	""
"0000264698"	"00005382"	"10"	"2526"	"0"	"2526"	"0"	"c.2526C>T"	"r.(?)"	"p.(Thr842=)"	""
"0000264699"	"00005382"	"50"	"2555"	"0"	"2555"	"0"	"c.2555C>T"	"r.(?)"	"p.(Pro852Leu)"	""
"0000264700"	"00005382"	"10"	"2748"	"0"	"2748"	"0"	"c.2748C>T"	"r.(?)"	"p.(Arg916=)"	""
"0000264701"	"00005382"	"30"	"3560"	"0"	"3560"	"0"	"c.3560G>A"	"r.(?)"	"p.(Arg1187Gln)"	""
"0000264702"	"00005382"	"10"	"3584"	"0"	"3584"	"0"	"c.3584C>G"	"r.(?)"	"p.(Ser1195Cys)"	""
"0000264703"	"00005382"	"10"	"412"	"8"	"412"	"8"	"c.412+8C>A"	"r.(=)"	"p.(=)"	""
"0000264704"	"00005382"	"10"	"634"	"0"	"634"	"0"	"c.634A>T"	"r.(?)"	"p.(Thr212Ser)"	""
"0000264705"	"00005382"	"50"	"713"	"0"	"713"	"0"	"c.713G>A"	"r.(?)"	"p.(Gly238Asp)"	""
"0000264707"	"00005382"	"10"	"838"	"-4"	"838"	"-4"	"c.838-4G>T"	"r.spl?"	"p.?"	""
"0000264708"	"00005382"	"30"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Ser293Asn)"	""
"0000266850"	"00005382"	"10"	"1122"	"-15"	"1122"	"-15"	"c.1122-15C>T"	"r.(=)"	"p.(=)"	""
"0000266851"	"00005382"	"10"	"1958"	"-14"	"1958"	"-14"	"c.1958-14A>C"	"r.(=)"	"p.(=)"	""
"0000266852"	"00005382"	"10"	"2193"	"0"	"2193"	"0"	"c.2193C>T"	"r.(?)"	"p.(Asn731=)"	""
"0000266853"	"00005382"	"10"	"2635"	"-10"	"2635"	"-10"	"c.2635-10C>T"	"r.(=)"	"p.(=)"	""
"0000266854"	"00005382"	"10"	"2664"	"0"	"2664"	"0"	"c.2664C>G"	"r.(?)"	"p.(Ala888=)"	""
"0000266855"	"00005382"	"10"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Arg100His)"	""
"0000266856"	"00005382"	"10"	"327"	"0"	"327"	"0"	"c.327C>T"	"r.(?)"	"p.(Gly109=)"	""
"0000273658"	"00005382"	"30"	"1122"	"-15"	"1122"	"-15"	"c.1122-15C>T"	"r.(=)"	"p.(=)"	""
"0000273659"	"00005382"	"30"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000273660"	"00005382"	"50"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	""
"0000273661"	"00005382"	"50"	"1654"	"0"	"1654"	"0"	"c.1654C>T"	"r.(?)"	"p.(Arg552Cys)"	""
"0000273662"	"00005382"	"50"	"1655"	"0"	"1655"	"0"	"c.1655G>A"	"r.(?)"	"p.(Arg552His)"	""
"0000273663"	"00005382"	"30"	"1667"	"0"	"1667"	"0"	"c.1667C>A"	"r.(?)"	"p.(Thr556Lys)"	""
"0000273664"	"00005382"	"50"	"1838"	"0"	"1838"	"0"	"c.1838C>T"	"r.(?)"	"p.(Thr613Ile)"	""
"0000273665"	"00005382"	"50"	"2134"	"0"	"2134"	"0"	"c.2134C>T"	"r.(?)"	"p.(Arg712Cys)"	""
"0000273666"	"00005382"	"50"	"2153"	"0"	"2153"	"0"	"c.2153G>C"	"r.(?)"	"p.(Gly718Ala)"	""
"0000273667"	"00005382"	"30"	"2217"	"10"	"2217"	"10"	"c.2217+10G>T"	"r.(=)"	"p.(=)"	""
"0000273668"	"00005382"	"30"	"2370"	"-9"	"2370"	"-9"	"c.2370-9C>T"	"r.(=)"	"p.(=)"	""
"0000273670"	"00005382"	"10"	"2853"	"0"	"2853"	"0"	"c.2853C>A"	"r.(?)"	"p.(Asp951Glu)"	""
"0000273671"	"00005382"	"90"	"2977"	"-1"	"2977"	"-1"	"c.2977-1G>A"	"r.spl?"	"p.?"	""
"0000273672"	"00005382"	"30"	"3115"	"0"	"3115"	"0"	"c.3115G>A"	"r.(?)"	"p.(Gly1039Arg)"	""
"0000273673"	"00005382"	"30"	"412"	"8"	"412"	"8"	"c.412+8C>A"	"r.(=)"	"p.(=)"	""
"0000273674"	"00005382"	"30"	"838"	"-4"	"838"	"-4"	"c.838-4G>T"	"r.spl?"	"p.?"	""
"0000338437"	"00005382"	"10"	"3462"	"7"	"3462"	"7"	"c.3462+7T>C"	"r.(=)"	"p.(=)"	""
"0000338438"	"00005382"	"10"	"2635"	"-10"	"2635"	"-10"	"c.2635-10C>T"	"r.(=)"	"p.(=)"	""
"0000338439"	"00005382"	"10"	"2218"	"-12"	"2218"	"-12"	"c.2218-12C>T"	"r.(=)"	"p.(=)"	""
"0000338440"	"00005382"	"10"	"1958"	"-14"	"1958"	"-14"	"c.1958-14A>C"	"r.(=)"	"p.(=)"	""
"0000338441"	"00005382"	"10"	"1122"	"-15"	"1122"	"-15"	"c.1122-15C>T"	"r.(=)"	"p.(=)"	""
"0000340252"	"00005382"	"10"	"327"	"0"	"327"	"0"	"c.327C>T"	"r.(?)"	"p.(Gly109=)"	""
"0000340666"	"00005382"	"10"	"2664"	"0"	"2664"	"0"	"c.2664C>G"	"r.(?)"	"p.(Ala888=)"	""
"0000340771"	"00005382"	"10"	"3378"	"0"	"3378"	"0"	"c.3378C>T"	"r.(?)"	"p.(Gly1126=)"	""
"0000341658"	"00005382"	"10"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Arg100His)"	""
"0000343479"	"00005382"	"50"	"2747"	"0"	"2747"	"0"	"c.2747G>A"	"r.(?)"	"p.(Arg916His)"	""
"0000343856"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000344268"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl?"	"p.?"	""
"0000344683"	"00005382"	"90"	"706"	"0"	"706"	"0"	"c.706C>T"	"r.(?)"	"p.(Gln236Ter)"	""
"0000347708"	"00005382"	"70"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0000348500"	"00005382"	"50"	"161"	"0"	"161"	"0"	"c.161C>G"	"r.(?)"	"p.(Pro54Arg)"	""
"0000349837"	"00005382"	"50"	"1999"	"0"	"1999"	"0"	"c.1999T>C"	"r.(?)"	"p.(Trp667Arg)"	""
"0000358226"	"00005382"	"70"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000477182"	"00005382"	"50"	"3710"	"0"	"3710"	"0"	"c.3710T>C"	"r.(?)"	"p.(Ile1237Thr)"	""
"0000477183"	"00005382"	"50"	"3678"	"0"	"3678"	"0"	"c.3678C>A"	"r.(?)"	"p.(Cys1226*)"	""
"0000477184"	"00005382"	"50"	"3488"	"0"	"3488"	"0"	"c.3488G>A"	"r.(?)"	"p.(Gly1163Glu)"	""
"0000477185"	"00005382"	"50"	"3422"	"0"	"3422"	"0"	"c.3422C>T"	"r.(?)"	"p.(Ala1141Val)"	""
"0000477186"	"00005382"	"50"	"3421"	"0"	"3421"	"0"	"c.3421G>A"	"r.(?)"	"p.(Ala1141Thr)"	""
"0000477187"	"00005382"	"50"	"3401"	"0"	"3401"	"0"	"c.3401C>T"	"r.(?)"	"p.(Ala1134Val)"	""
"0000477188"	"00005382"	"50"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Arg1133Gln)"	""
"0000477189"	"00005382"	"50"	"3340"	"0"	"3340"	"0"	"c.3340G>A"	"r.(?)"	"p.(Ala1114Thr)"	""
"0000477190"	"00005382"	"50"	"3286"	"0"	"3286"	"0"	"c.3286G>A"	"r.(?)"	"p.(Val1096Met)"	""
"0000477191"	"00005382"	"50"	"3229"	"0"	"3229"	"0"	"c.3229C>T"	"r.(?)"	"p.(Arg1077Trp)"	""
"0000477192"	"00005382"	"50"	"3178"	"0"	"3180"	"0"	"c.3178_3180del"	"r.(?)"	"p.(Lys1060del)"	""
"0000477193"	"00005382"	"50"	"3149"	"0"	"3149"	"0"	"c.3149G>C"	"r.(?)"	"p.(Gly1050Ala)"	""
"0000477194"	"00005382"	"50"	"2903"	"0"	"2903"	"0"	"c.2903G>A"	"r.(?)"	"p.(Arg968Gln)"	""
"0000477195"	"00005382"	"10"	"2882"	"0"	"2882"	"0"	"c.2882C>T"	"r.(?)"	"p.(Ala961Val)"	""
"0000477196"	"00005382"	"50"	"2789"	"0"	"2789"	"0"	"c.2789T>C"	"r.(?)"	"p.(Met930Thr)"	""
"0000477197"	"00005382"	"50"	"2737"	"0"	"2737"	"0"	"c.2737G>A"	"r.(?)"	"p.(Val913Met)"	""
"0000477198"	"00005382"	"10"	"2732"	"0"	"2732"	"0"	"c.2732A>G"	"r.(?)"	"p.(Lys911Arg)"	""
"0000477199"	"00005382"	"50"	"2656"	"0"	"2656"	"0"	"c.2656G>A"	"r.(?)"	"p.(Ala886Thr)"	""
"0000477200"	"00005382"	"50"	"2653"	"0"	"2653"	"0"	"c.2653G>T"	"r.(?)"	"p.(Ala885Ser)"	""
"0000477201"	"00005382"	"90"	"2542"	"0"	"2543"	"0"	"c.2542_2543insA"	"r.(?)"	"p.(Gly848Glufs*4)"	""
"0000477202"	"00005382"	"50"	"2534"	"0"	"2534"	"0"	"c.2534C>T"	"r.(?)"	"p.(Thr845Ile)"	""
"0000477203"	"00005382"	"50"	"2500"	"0"	"2500"	"0"	"c.2500C>T"	"r.(?)"	"p.(Arg834Cys)"	""
"0000477204"	"00005382"	"90"	"2360"	"0"	"2360"	"0"	"c.2360A>G"	"r.(?)"	"p.(Tyr787Cys)"	""
"0000477205"	"00005382"	"90"	"2305"	"-1"	"2305"	"-1"	"c.2305-1G>A"	"r.spl?"	"p.?"	""
"0000477206"	"00005382"	"50"	"2304"	"3"	"2304"	"3"	"c.2304+3A>G"	"r.spl?"	"p.?"	""
"0000477207"	"00005382"	"10"	"2233"	"0"	"2233"	"0"	"c.2233C>A"	"r.(?)"	"p.(Leu745Ile)"	""
"0000477208"	"00005382"	"90"	"2226"	"0"	"2226"	"0"	"c.2226del"	"r.(?)"	"p.(Leu743Serfs*11)"	""
"0000477209"	"00005382"	"50"	"2206"	"0"	"2206"	"0"	"c.2206C>T"	"r.(?)"	"p.(Arg736Cys)"	""
"0000477210"	"00005382"	"50"	"2066"	"0"	"2066"	"0"	"c.2066A>G"	"r.(?)"	"p.(His689Arg)"	""
"0000477211"	"00005382"	"50"	"2014"	"0"	"2014"	"0"	"c.2014T>G"	"r.(?)"	"p.(Trp672Gly)"	""
"0000477212"	"00005382"	"50"	"1771"	"0"	"1771"	"0"	"c.1771G>A"	"r.(?)"	"p.(Val591Ile)"	""
"0000477213"	"00005382"	"50"	"1612"	"0"	"1612"	"0"	"c.1612T>G"	"r.(?)"	"p.(Trp538Gly)"	""
"0000477214"	"00005382"	"10"	"1604"	"0"	"1604"	"0"	"c.1604T>C"	"r.(?)"	"p.(Val535Ala)"	""
"0000477215"	"00005382"	"50"	"1523"	"0"	"1523"	"0"	"c.1523C>T"	"r.(?)"	"p.(Ser508Leu)"	""
"0000477216"	"00005382"	"50"	"1450"	"0"	"1450"	"0"	"c.1450A>G"	"r.(?)"	"p.(Asn484Asp)"	""
"0000477217"	"00005382"	"50"	"1435"	"0"	"1435"	"0"	"c.1435C>A"	"r.(?)"	"p.(Leu479Ile)"	""
"0000477218"	"00005382"	"50"	"1373"	"-3"	"1373"	"-3"	"c.1373-3C>A"	"r.spl?"	"p.?"	""
"0000477219"	"00005382"	"50"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000477220"	"00005382"	"50"	"1034"	"3"	"1034"	"3"	"c.1034+3G>T"	"r.spl?"	"p.?"	""
"0000477221"	"00005382"	"50"	"775"	"0"	"775"	"0"	"c.775G>T"	"r.(?)"	"p.(Val259Phe)"	""
"0000477222"	"00005382"	"50"	"712"	"0"	"712"	"0"	"c.712G>A"	"r.(?)"	"p.(Gly238Ser)"	""
"0000477223"	"00005382"	"50"	"628"	"0"	"628"	"0"	"c.628C>T"	"r.(?)"	"p.(Arg210Trp)"	""
"0000477224"	"00005382"	"50"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000477225"	"00005382"	"50"	"358"	"0"	"358"	"0"	"c.358A>G"	"r.(?)"	"p.(Ser120Gly)"	""
"0000477226"	"00005382"	"10"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Arg100His)"	""
"0000477227"	"00005382"	"10"	"257"	"0"	"257"	"0"	"c.257G>C"	"r.(?)"	"p.(Arg86Pro)"	""
"0000477228"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	""
"0000477229"	"00005382"	"50"	"190"	"0"	"190"	"0"	"c.190G>T"	"r.(?)"	"p.(Val64Leu)"	""
"0000477230"	"00005382"	"50"	"139"	"0"	"139"	"0"	"c.139G>A"	"r.(?)"	"p.(Glu47Lys)"	""
"0000477231"	"00005382"	"50"	"106"	"0"	"106"	"0"	"c.106G>A"	"r.(?)"	"p.(Glu36Lys)"	""
"0000477232"	"00005382"	"50"	"46"	"0"	"46"	"0"	"c.46C>G"	"r.(?)"	"p.(Pro16Ala)"	""
"0000477598"	"00005382"	"10"	"2732"	"0"	"2732"	"0"	"c.2732A>G"	"r.(?)"	"p.(Lys911Arg)"	""
"0000477599"	"00005382"	"10"	"1604"	"0"	"1604"	"0"	"c.1604T>C"	"r.(?)"	"p.(Val535Ala)"	""
"0000477600"	"00005382"	"50"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000477601"	"00005382"	"10"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Arg100His)"	""
"0000477602"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	""
"0000558633"	"00005382"	"50"	"3728"	"0"	"3728"	"0"	"c.3728C>T"	"r.(?)"	"p.(Pro1243Leu)"	""
"0000558634"	"00005382"	"30"	"3584"	"0"	"3584"	"0"	"c.3584C>G"	"r.(?)"	"p.(Ser1195Cys)"	""
"0000558635"	"00005382"	"30"	"3560"	"0"	"3560"	"0"	"c.3560G>A"	"r.(?)"	"p.(Arg1187Gln)"	""
"0000558636"	"00005382"	"10"	"3474"	"0"	"3474"	"0"	"c.3474G>T"	"r.(?)"	"p.(Ser1158=)"	""
"0000558637"	"00005382"	"30"	"3421"	"0"	"3421"	"0"	"c.3421G>A"	"r.(?)"	"p.(Ala1141Thr)"	""
"0000558638"	"00005382"	"50"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Arg1133Gln)"	""
"0000558639"	"00005382"	"50"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Arg1133Gln)"	""
"0000558641"	"00005382"	"50"	"3255"	"0"	"3255"	"0"	"c.3255A>T"	"r.(?)"	"p.(Arg1085Ser)"	""
"0000558642"	"00005382"	"10"	"3242"	"18"	"3242"	"18"	"c.3242+18C>T"	"r.(=)"	"p.(=)"	""
"0000558643"	"00005382"	"50"	"3190"	"0"	"3190"	"0"	"c.3190G>A"	"r.(?)"	"p.(Glu1064Lys)"	""
"0000558644"	"00005382"	"10"	"3147"	"0"	"3147"	"0"	"c.3147C>T"	"r.(?)"	"p.(His1049=)"	""
"0000558645"	"00005382"	"30"	"3115"	"0"	"3115"	"0"	"c.3115G>A"	"r.(?)"	"p.(Gly1039Arg)"	""
"0000558646"	"00005382"	"50"	"2902"	"0"	"2902"	"0"	"c.2902C>T"	"r.(?)"	"p.(Arg968Trp)"	""
"0000558650"	"00005382"	"10"	"2634"	"8"	"2634"	"8"	"c.2634+8G>A"	"r.(=)"	"p.(=)"	""
"0000558651"	"00005382"	"30"	"2634"	"8"	"2634"	"8"	"c.2634+8G>A"	"r.(=)"	"p.(=)"	""
"0000558652"	"00005382"	"50"	"2629"	"0"	"2629"	"0"	"c.2629G>A"	"r.(?)"	"p.(Gly877Arg)"	""
"0000558653"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544del"	"r.(?)"	"p.(Leu849CysfsTer15)"	""
"0000558654"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849AlafsTer3)"	""
"0000558655"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849AlafsTer3)"	""
"0000558656"	"00005382"	"10"	"2475"	"0"	"2475"	"0"	"c.2475C>T"	"r.(?)"	"p.(Tyr825=)"	""
"0000558657"	"00005382"	"30"	"1881"	"0"	"1881"	"0"	"c.1881C>T"	"r.(?)"	"p.(Cys627=)"	""
"0000558659"	"00005382"	"30"	"1626"	"0"	"1626"	"0"	"c.1626C>T"	"r.(?)"	"p.(Thr542=)"	""
"0000558660"	"00005382"	"30"	"1626"	"0"	"1626"	"0"	"c.1626C>T"	"r.(?)"	"p.(Thr542=)"	""
"0000558661"	"00005382"	"10"	"1382"	"0"	"1382"	"0"	"c.1382C>T"	"r.(?)"	"p.(Thr461Met)"	""
"0000558662"	"00005382"	"30"	"1382"	"0"	"1382"	"0"	"c.1382C>T"	"r.(?)"	"p.(Thr461Met)"	""
"0000558663"	"00005382"	"50"	"1141"	"0"	"1141"	"0"	"c.1141G>A"	"r.(?)"	"p.(Val381Met)"	""
"0000558664"	"00005382"	"10"	"996"	"0"	"996"	"0"	"c.996T>C"	"r.(?)"	"p.(Ala332=)"	""
"0000558665"	"00005382"	"30"	"584"	"-9"	"584"	"-9"	"c.584-9G>A"	"r.(=)"	"p.(=)"	""
"0000558666"	"00005382"	"50"	"479"	"0"	"479"	"0"	"c.479T>C"	"r.(?)"	"p.(Leu160Pro)"	""
"0000558667"	"00005382"	"10"	"458"	"7"	"458"	"7"	"c.458+7C>T"	"r.(=)"	"p.(=)"	""
"0000558668"	"00005382"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0000616058"	"00005382"	"30"	"3717"	"0"	"3717"	"0"	"c.3717G>T"	"r.(?)"	"p.(Ser1239=)"	""
"0000616059"	"00005382"	"50"	"3683"	"0"	"3683"	"0"	"c.3683G>C"	"r.(?)"	"p.(Ser1228Thr)"	""
"0000616060"	"00005382"	"50"	"2501"	"0"	"2501"	"0"	"c.2501G>T"	"r.(?)"	"p.(Arg834Leu)"	""
"0000616061"	"00005382"	"50"	"2209"	"0"	"2209"	"0"	"c.2209C>T"	"r.(?)"	"p.(Arg737Cys)"	""
"0000616062"	"00005382"	"50"	"1262"	"0"	"1262"	"0"	"c.1262C>A"	"r.(?)"	"p.(Ala421Asp)"	""
"0000623501"	"00005382"	"50"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.(?)"	"p.(Val957Ile)"	""
"0000649366"	"00005382"	"50"	"4037"	"0"	"4037"	"0"	"c.*281T>C"	"r.(=)"	"p.(=)"	""
"0000649367"	"00005382"	"50"	"3378"	"0"	"3378"	"0"	"c.3378C>T"	"r.(=)"	"p.(=)"	""
"0000649368"	"00005382"	"50"	"3115"	"0"	"3115"	"0"	"c.3115G>A"	"r.(?)"	"p.(Gly1039Arg)"	""
"0000649369"	"00005382"	"30"	"2854"	"0"	"2854"	"0"	"c.2854G>A"	"r.(?)"	"p.(Val952Met)"	""
"0000649370"	"00005382"	"30"	"1644"	"0"	"1644"	"0"	"c.1644T>C"	"r.(=)"	"p.(=)"	""
"0000649371"	"00005382"	"30"	"1604"	"0"	"1604"	"0"	"c.1604T>C"	"r.(?)"	"p.(Val535Ala)"	""
"0000649372"	"00005382"	"50"	"1382"	"0"	"1382"	"0"	"c.1382C>T"	"r.(?)"	"p.(Thr461Met)"	""
"0000649373"	"00005382"	"50"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Ser293Asn)"	""
"0000649374"	"00005382"	"50"	"105"	"0"	"105"	"0"	"c.105G>A"	"r.(=)"	"p.(=)"	""
"0000657893"	"00005382"	"50"	"3122"	"0"	"3122"	"0"	"c.3122G>A"	"r.(?)"	"p.(Arg1041Gln)"	""
"0000657894"	"00005382"	"30"	"631"	"0"	"631"	"0"	"c.631G>A"	"r.(?)"	"p.(Glu211Lys)"	""
"0000669343"	"00005382"	"50"	"3378"	"0"	"3378"	"0"	"c.3378C>T"	"r.(=)"	"p.(=)"	""
"0000669344"	"00005382"	"50"	"3115"	"0"	"3115"	"0"	"c.3115G>A"	"r.(?)"	"p.(Gly1039Arg)"	""
"0000669345"	"00005382"	"30"	"1644"	"0"	"1644"	"0"	"c.1644T>C"	"r.(=)"	"p.(=)"	""
"0000669346"	"00005382"	"30"	"1604"	"0"	"1604"	"0"	"c.1604T>C"	"r.(?)"	"p.(Val535Ala)"	""
"0000680617"	"00005382"	"30"	"2634"	"6"	"2634"	"6"	"c.2634+6G>C"	"r.(=)"	"p.(=)"	""
"0000685145"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000685146"	"00005382"	"70"	"2629"	"0"	"2629"	"0"	"c.2629G>A"	"r.(?)"	"p.(Gly877Arg)"	""
"0000685147"	"00005382"	"90"	"2320"	"0"	"2320"	"0"	"c.2320G>A"	"r.(?)"	"p.(Glu774Lys)"	""
"0000685148"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000685149"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000686007"	"00005382"	"90"	"2760"	"0"	"2760"	"0"	"c.2760G>A"	"r.(?)"	"p.(Trp920*)"	""
"0000692096"	"00005382"	"50"	"2764"	"0"	"2764"	"0"	"c.2764G>A"	"r.(?)"	"p.(Glu922Lys)"	""
"0000692097"	"00005382"	"50"	"2209"	"0"	"2209"	"0"	"c.2209C>T"	"r.(?)"	"p.(Arg737Cys)"	""
"0000692098"	"00005382"	"50"	"1741"	"0"	"1741"	"0"	"c.1741A>G"	"r.(?)"	"p.(Lys581Glu)"	""
"0000692099"	"00005382"	"30"	"1185"	"0"	"1185"	"0"	"c.1185C>T"	"r.(?)"	"p.(Thr395=)"	""
"0000692100"	"00005382"	"10"	"1024"	"0"	"1024"	"0"	"c.1024A>G"	"r.(?)"	"p.(Lys342Glu)"	""
"0000692101"	"00005382"	"10"	"783"	"0"	"783"	"0"	"c.783C>T"	"r.(?)"	"p.(His261=)"	""
"0000708544"	"00005382"	"90"	"2759"	"0"	"2759"	"0"	"c.2759G>A"	"r.(?)"	"p.(Trp920Ter)"	""
"0000710321"	"00005382"	"50"	"2656"	"0"	"2656"	"0"	"c.2656G>A"	"r.(?)"	"p.(Ala886Thr)"	""
"0000710322"	"00005382"	"50"	"458"	"8"	"458"	"8"	"c.458+8C>T"	"r.(?)"	"p.?"	""
"0000713267"	"00005382"	"70"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318*)"	""
"0000713276"	"00005382"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Gln222*)"	""
"0000713295"	"00005382"	"90"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048Glyfs*13)"	""
"0000713300"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000713304"	"00005382"	"90"	"761"	"2"	"761"	"2"	"c.761+2T>A"	"r.spl?"	"p.?"	""
"0000713321"	"00005382"	"90"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Arg729*)"	""
"0000713431"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl?"	"p.?"	""
"0000713482"	"00005382"	"90"	"2980"	"0"	"2980"	"0"	"c.2980G>T"	"r.(?)"	"p.(Glu994*)"	""
"0000713599"	"00005382"	"90"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.(?)"	"p.(Arg762His)"	""
"0000713693"	"00005382"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88*)"	""
"0000713702"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000713802"	"00005382"	"90"	"2676"	"0"	"2676"	"0"	"c.2676C>A"	"r.(?)"	"p.(Tyr892*)"	""
"0000725877"	"00005382"	"50"	"2935"	"0"	"2935"	"0"	"c.2935C>T"	"r.(?)"	"p.(Arg979Cys)"	""
"0000725878"	"00005382"	"30"	"2475"	"0"	"2475"	"0"	"c.2475C>T"	"r.(?)"	"p.(Tyr825=)"	""
"0000725879"	"00005382"	"50"	"1523"	"0"	"1523"	"0"	"c.1523C>T"	"r.(?)"	"p.(Ser508Leu)"	""
"0000725880"	"00005382"	"30"	"1179"	"0"	"1179"	"0"	"c.1179C>T"	"r.(?)"	"p.(Asp393=)"	""
"0000725881"	"00005382"	"50"	"1159"	"0"	"1159"	"0"	"c.1159G>A"	"r.(?)"	"p.(Val387Met)"	""
"0000725882"	"00005382"	"50"	"595"	"0"	"595"	"0"	"c.595C>T"	"r.(?)"	"p.(Arg199Cys)"	""
"0000725883"	"00005382"	"50"	"232"	"0"	"232"	"0"	"c.232G>A"	"r.(?)"	"p.(Ala78Thr)"	""
"0000729752"	"00005382"	"90"	"875"	"-2"	"875"	"-2"	"c.875-2A>C"	"r.spl"	"p.?"	""
"0000731497"	"00005382"	"50"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000731517"	"00005382"	"50"	"2096"	"0"	"2096"	"0"	"c.2096A>G"	"r.(?)"	"p.(Asp699Gly)"	""
"0000731519"	"00005382"	"50"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Arg894His)"	""
"0000731562"	"00005382"	"90"	"1187"	"0"	"1187"	"0"	"c.1187G>A"	"r.(?)"	"p.(Arg396Gln)"	""
"0000731575"	"00005382"	"90"	"1801"	"5"	"1801"	"5"	"c.1801+5G>A"	"r.spl"	"p.?"	""
"0000732480"	"00005382"	"50"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Arg894His)"	""
"0000732490"	"00005382"	"50"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Pro55=)"	""
"0000732585"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000733050"	"00005382"	"70"	"1730"	"0"	"1731"	"0"	"c.1730_1731insC"	"r.(?)"	"p.(Glu577Aspfs*12)"	""
"0000733051"	"00005382"	"70"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	""
"0000733520"	"00005382"	"70"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048Glyfs*13)"	""
"0000733521"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000734409"	"00005382"	"90"	"2293"	"0"	"2293"	"0"	"c.2293C>T"	"r.(?)"	"p.(Arg765Cys)"	""
"0000735186"	"00005382"	"30"	"2514"	"0"	"2514"	"0"	"c.2514T>C"	"r.(?)"	"p.(Phe838=)"	""
"0000735609"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000735731"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000736200"	"00005382"	"90"	"875"	"-5"	"891"	"0"	"c.875-5_891dup"	"r.(?)"	"p.(Gly298Cysfs*13)"	"12i_13"
"0000736201"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000736202"	"00005382"	"70"	"2526"	"0"	"2526"	"0"	"c.2526C>T"	"r.spl?"	"p.?"	"26"
"0000736203"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000736255"	"00005382"	"90"	"875"	"-5"	"891"	"0"	"c.875-5_891dup"	"r.(?)"	"p.(Gly298Cysfs*13)"	"12i_13"
"0000736256"	"00005382"	"90"	"2153"	"0"	"2153"	"0"	"c.2153G>C"	"r.(?)"	"p.(Gly718Ala)"	"21"
"0000736827"	"00005382"	"50"	"1101"	"0"	"1103"	"0"	"c.1101_1103dup"	"r.(?)"	"p.(Glu371dup)"	""
"0000736828"	"00005382"	"50"	"1659"	"0"	"1670"	"0"	"c.1659_1670del"	"r.(?)"	"p.(Ala554_Ala557del)"	""
"0000760034"	"00005382"	"50"	"2747"	"0"	"2747"	"0"	"c.2747G>A"	"r.(?)"	"p.(Arg916His)"	""
"0000760251"	"00005382"	"50"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88*)"	""
"0000760257"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000760305"	"00005382"	"50"	"2893"	"0"	"2893"	"0"	"c.2893G>A"	"r.(?)"	"p.(Gly965Ser)"	""
"0000760347"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000760402"	"00005382"	"50"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Arg894His)"	""
"0000760403"	"00005382"	"50"	"2096"	"0"	"2096"	"0"	"c.2096A>G"	"r.(?)"	"p.(Asp699Gly)"	""
"0000760471"	"00005382"	"50"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	""
"0000760489"	"00005382"	"50"	"1382"	"0"	"1382"	"0"	"c.1382C>T"	"r.(?)"	"p.(Thr461Met)"	""
"0000764053"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000764062"	"00005382"	"70"	"2634"	"6"	"2634"	"6"	"c.2634+6G>A"	"r.spl"	"p.?"	""
"0000764132"	"00005382"	"30"	"1535"	"3386"	"1535"	"3386"	"c.1535+3386T>G"	"r.?"	"p.?"	"17i"
"0000765555"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	""
"0000765556"	"00005382"	"90"	"2805"	"0"	"2805"	"0"	"c.2805del"	"r.(?)"	"p.(Glu935Aspfs*2)"	""
"0000765595"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	""
"0000765849"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000765852"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000765873"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000765885"	"00005382"	"70"	"2294"	"0"	"2294"	"0"	"c.2294G>T"	"r.(?)"	"p.(Arg765Leu)"	""
"0000766038"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766039"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766040"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766041"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766042"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766043"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766044"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766045"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000766046"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000784149"	"00005382"	"50"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000784152"	"00005382"	"50"	"2635"	"-3"	"2635"	"-3"	"c.2635-3C>T"	"r.(=)"	"p.(=)"	""
"0000784219"	"00005382"	"90"	"2361"	"0"	"2361"	"0"	"c.2361C>A"	"r.(?)"	"p.(Tyr787Ter)"	""
"0000784235"	"00005382"	"70"	"292"	"0"	"292"	"0"	"c.292C>T"	"r.(?)"	"p.(Pro98Ser)"	""
"0000784265"	"00005382"	"70"	"1589"	"0"	"1589"	"0"	"c.1589C>G"	"r.(?)"	"p.(Pro530Arg)"	""
"0000784293"	"00005382"	"50"	"2098"	"0"	"2098"	"0"	"c.2098C>T"	"r.(?)"	"p.(Leu700Phe)"	""
"0000784296"	"00005382"	"50"	"2168"	"0"	"2168"	"0"	"c.2168C>T"	"r.(?)"	"p.(Thr723Met)"	""
"0000784297"	"00005382"	"50"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000784307"	"00005382"	"70"	"412"	"8"	"412"	"8"	"c.412+8C>A"	"r.(=)"	"p.(=)"	""
"0000784327"	"00005382"	"70"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000784328"	"00005382"	"70"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	""
"0000784343"	"00005382"	"70"	"846"	"0"	"854"	"0"	"c.846_854del"	"r.(?)"	"p.(Asp282_Gly285delinsGlu)"	""
"0000784347"	"00005382"	"70"	"2650"	"0"	"2650"	"0"	"c.2650G>A"	"r.(?)"	"p.(Gly884Arg)"	""
"0000784374"	"00005382"	"70"	"1589"	"0"	"1589"	"0"	"c.1589C>G"	"r.(?)"	"p.(Pro530Arg)"	""
"0000784379"	"00005382"	"70"	"3488"	"0"	"3488"	"0"	"c.3488G>A"	"r.(?)"	"p.(Gly1163Glu)"	""
"0000784394"	"00005382"	"70"	"1536"	"-41"	"1552"	"0"	"c.1536-41_1552del"	"r.spl"	"p.?"	""
"0000784399"	"00005382"	"70"	"2650"	"0"	"2650"	"0"	"c.2650G>A"	"r.(?)"	"p.(Gly884Arg)"	""
"0000784414"	"00005382"	"50"	"2976"	"8"	"2976"	"8"	"c.2976+8G>C"	"r.(=)"	"p.(=)"	""
"0000784447"	"00005382"	"50"	"2976"	"8"	"2976"	"8"	"c.2976+8G>C"	"r.(=)"	"p.(=)"	""
"0000784451"	"00005382"	"50"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Ser293Asn)"	""
"0000784474"	"00005382"	"50"	"2976"	"8"	"2976"	"8"	"c.2976+8G>C"	"r.(=)"	"p.(=)"	""
"0000784532"	"00005382"	"50"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Asp402Asn)"	""
"0000784535"	"00005382"	"50"	"2976"	"8"	"2976"	"8"	"c.2976+8G>C"	"r.(=)"	"p.(=)"	""
"0000784586"	"00005382"	"90"	"2888"	"0"	"2889"	"0"	"c.2888_2889del"	"r.(?)"	"p.(Phe963SerfsTer4)"	""
"0000785382"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000786325"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000786464"	"00005382"	"90"	"2508"	"0"	"2508"	"0"	"c.2508C>A"	"r.(?)"	"p.(Tyr836Ter)"	""
"0000786502"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000787633"	"00005382"	"70"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	""
"0000788101"	"00005382"	"90"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl"	"p.?"	""
"0000788102"	"00005382"	"90"	"2524"	"0"	"2524"	"0"	"c.2524dup"	"r.(?)"	"p.(Thr842AsnfsTer10)"	""
"0000788330"	"00005382"	"50"	"3421"	"0"	"3421"	"0"	"c.3421G>A"	"r.(?)"	"p.(Ala1141Thr)"	"32"
"0000788419"	"00005382"	"50"	"1450"	"0"	"1450"	"0"	"c.1450A>G"	"r.(?)"	"p.(Asn484Asp)"	"17"
"0000788523"	"00005382"	"50"	"3488"	"0"	"3488"	"0"	"c.3488G>A"	"r.(?)"	"p.(Gly1163Glu)"	"33"
"0000790528"	"00005382"	"50"	"1101"	"0"	"1103"	"0"	"c.1101_1103dup"	"r.(?)"	"p.(Glu371dup)"	""
"0000790546"	"00005382"	"50"	"3462"	"8"	"3462"	"8"	"c.3462+8G>T"	"r.spl?"	"p.?"	""
"0000790568"	"00005382"	"50"	"766"	"0"	"766"	"0"	"c.766G>T"	"r.(?)"	"p.(Val256Leu)"	""
"0000790636"	"00005382"	"50"	"634"	"0"	"634"	"0"	"c.634A>T"	"r.(?)"	"p.(Thr212Ser)"	""
"0000791615"	"00005382"	"50"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Asp566Asn)"	"19"
"0000793913"	"00005382"	"70"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	""
"0000793914"	"00005382"	"70"	"2154"	"0"	"2154"	"0"	"c.2154C>T"	"r.(=)"	"p.(=)"	""
"0000794466"	"00005382"	"70"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	""
"0000794685"	"00005382"	"70"	"2653"	"0"	"2654"	"0"	"c.2653_2654insGA"	"r.(?)"	"p.(Ala885Glyfs*18)"	""
"0000794963"	"00005382"	"50"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000795065"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000795773"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000795935"	"00005382"	"90"	"2293"	"0"	"2293"	"0"	"c.2293C>T"	"r.(?)"	"p.(Arg765Cys)"	"23"
"0000796151"	"00005382"	"90"	"1896"	"0"	"1896"	"0"	"c.1896C>A"	"r.(?)"	"p.(Cys632*)"	"20"
"0000796152"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	"31"
"0000796841"	"00005382"	"70"	"2218"	"-3"	"2218"	"-3"	"c.2218-3C>T"	"r.spl?"	"p.?"	"22i"
"0000796866"	"00005382"	"70"	"3247"	"0"	"3247"	"0"	"c.3247A>G"	"r.(?)"	"p.(Met1083Val)"	"32"
"0000797090"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000797161"	"00005382"	"70"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.(?)"	"25i"
"0000797569"	"00005382"	"70"	"2271"	"0"	"2271"	"0"	"c.2271del"	"r.(?)"	"p.(Asn758Thrfs*10)"	""
"0000797570"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000797571"	"00005382"	"70"	"2570"	"0"	"2571"	"0"	"c.2570_2571insT"	"r.(?)"	"p.(Glu857Aspfs*77)"	""
"0000797572"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000797573"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000797574"	"00005382"	"90"	"2166"	"1"	"2166"	"1"	"c.2166+1G>A"	"r.spl"	"p.(?)"	""
"0000797576"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000797577"	"00005382"	"70"	"3131"	"0"	"3149"	"0"	"c.3131_3149dup"	"r.(?)"	"p.(Phe1051Glnfs*15)"	""
"0000797579"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000797588"	"00005382"	"70"	"1345"	"0"	"1345"	"0"	"c.1345del"	"r.(?)"	"p.(Ala449Leufs*54)"	""
"0000797979"	"00005382"	"50"	"976"	"0"	"976"	"0"	"c.976G>C"	"r.(?)"	"p.(Gly326Arg)"	""
"0000797980"	"00005382"	"50"	"965"	"0"	"965"	"0"	"c.965C>T"	"r.(?)"	"p.(Thr322Ile)"	""
"0000797981"	"00005382"	"50"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.(?)"	"p.(Arg762His)"	""
"0000797982"	"00005382"	"50"	"2085"	"0"	"2085"	"0"	"c.2085T>A"	"r.(?)"	"p.(Asp695Glu)"	""
"0000797983"	"00005382"	"70"	"1345"	"0"	"1345"	"0"	"c.1345del"	"r.(?)"	"p.(Ala449Leufs*54)"	""
"0000797984"	"00005382"	"50"	"2085"	"0"	"2085"	"0"	"c.2085T>A"	"r.(?)"	"p.(Asp695Glu)"	""
"0000797985"	"00005382"	"70"	"2747"	"0"	"2747"	"0"	"c.2747G>A"	"r.(?)"	"p.(Arg916His)"	""
"0000798070"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000798420"	"00005382"	"70"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	"6i"
"0000798425"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000798433"	"00005382"	"70"	"2747"	"0"	"2747"	"0"	"c.2747G>A"	"r.(?)"	"p.(Arg916His)"	"27"
"0000807486"	"00005382"	"30"	"3692"	"0"	"3692"	"0"	"c.3692C>T"	"r.(?)"	"p.(Pro1231Leu)"	""
"0000807487"	"00005382"	"50"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Arg894His)"	""
"0000807488"	"00005382"	"30"	"2493"	"-5"	"2493"	"-4"	"c.2493-5_2493-4del"	"r.spl?"	"p.?"	""
"0000807489"	"00005382"	"50"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Arg737His)"	""
"0000807490"	"00005382"	"50"	"1589"	"0"	"1589"	"0"	"c.1589C>G"	"r.(?)"	"p.(Pro530Arg)"	""
"0000807491"	"00005382"	"50"	"1580"	"0"	"1580"	"0"	"c.1580C>T"	"r.(?)"	"p.(Ala527Val)"	""
"0000807492"	"00005382"	"30"	"1275"	"0"	"1275"	"0"	"c.1275C>G"	"r.(?)"	"p.(Ala425=)"	""
"0000807493"	"00005382"	"50"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Ser293Asn)"	""
"0000807494"	"00005382"	"30"	"748"	"0"	"748"	"0"	"c.748A>G"	"r.(?)"	"p.(Arg250Gly)"	""
"0000811867"	"00005382"	"70"	"3247"	"0"	"3247"	"0"	"c.3247A>G"	"r.(?)"	"p.(Met1083Val)"	""
"0000812022"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000812044"	"00005382"	"70"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.(?)"	"p.(?)"	"6i"
"0000812045"	"00005382"	"70"	"2567"	"0"	"2568"	"0"	"c.2567_2568del"	"r.(?)"	"p.(Phe856*)"	"26"
"0000812061"	"00005382"	"70"	"2104"	"0"	"2104"	"0"	"c.2104T>A"	"r.(?)"	"p.(Tyr702Asn)"	"21"
"0000812062"	"00005382"	"70"	"3425"	"0"	"3425"	"0"	"c.3425del"	"r.(?)"	"p.(Leu1142Argfs*82)"	"32"
"0000812063"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000812070"	"00005382"	"70"	"1398"	"0"	"1398"	"0"	"c.1398del"	"r.(?)"	"p.(Val467Cysfs*36)"	"17"
"0000812119"	"00005382"	"70"	"1822"	"0"	"1822"	"0"	"c.1822G>T"	"r.(?)"	"p.(Glu608*)"	"20"
"0000812120"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000812121"	"00005382"	"70"	"801"	"0"	"801"	"0"	"c.801del"	"r.(?)"	"p.(Leu267Phefs*10)"	"11"
"0000812123"	"00005382"	"70"	"2104"	"0"	"2104"	"0"	"c.2104T>A"	"r.(?)"	"p.(Tyr702Asn)"	"21"
"0000812195"	"00005382"	"70"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	"31"
"0000812268"	"00005382"	"70"	"2029"	"0"	"2029"	"0"	"c.2029C>T"	"r.(?)"	"p.(Arg677Cys)"	"21"
"0000812269"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000812276"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000812359"	"00005382"	"70"	"2209"	"0"	"2209"	"0"	"c.2209C>T"	"r.(?)"	"p.(Arg737Cys)"	"22"
"0000812360"	"00005382"	"70"	"2764"	"0"	"2764"	"0"	"c.2764G>T"	"r.(?)"	"p.(Glu922*)"	"27"
"0000812361"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000812398"	"00005382"	"70"	"1949"	"0"	"1949"	"0"	"c.1949C>T"	"r.(?)"	"p.(Pro650Leu)"	"20"
"0000814270"	"00005382"	"70"	"2098"	"0"	"2098"	"0"	"c.2098C>T"	"r.(?)"	"p.(Leu700Phe)"	"21"
"0000814297"	"00005382"	"70"	"1840"	"0"	"1840"	"0"	"c.1840A>G"	"r.(?)"	"p.(Lys614Glu)"	"20"
"0000814765"	"00005382"	"50"	"2921"	"0"	"2921"	"0"	"c.2921T>G"	"r.(?)"	"p.(Met974Arg)"	"29"
"0000815279"	"00005382"	"90"	"1822"	"0"	"1822"	"0"	"c.1822G>T"	"r.(?)"	"p.(Glu608*)"	""
"0000815354"	"00005382"	"90"	"801"	"0"	"801"	"0"	"c.801del"	"r.(?)"	"p.(Leu267Phefs*10)"	""
"0000815444"	"00005382"	"90"	"1822"	"0"	"1822"	"0"	"c.1822G>T"	"r.(?)"	"p.(Glu608*)"	""
"0000815445"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000815446"	"00005382"	"90"	"1822"	"0"	"1822"	"0"	"c.1822G>T"	"r.(?)"	"p.(Glu608Ter)"	""
"0000815618"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	""
"0000816017"	"00005382"	"90"	"1648"	"0"	"1648"	"0"	"c.1648C>T"	"r.(?)"	"p.(Gln550*)"	""
"0000816062"	"00005382"	"90"	"2508"	"0"	"2508"	"0"	"c.2508C>A"	"r.(?)"	"p.(Tyr836*)"	""
"0000816103"	"00005382"	"50"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl?"	"p.(?)"	""
"0000816195"	"00005382"	"50"	"1907"	"0"	"1907"	"0"	"c.1907A>G"	"r.(?)"	"p.(His636Arg)"	""
"0000816360"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000816397"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000816425"	"00005382"	"50"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl?"	"p.(?)"	""
"0000816496"	"00005382"	"50"	"2057"	"0"	"2057"	"0"	"c.2057A>G"	"r.(?)"	"p.(Asp686Gly)"	""
"0000816581"	"00005382"	"90"	"2092"	"0"	"2092"	"0"	"c.2092T>C"	"r.(?)"	"p.(Cys698Arg)"	""
"0000816582"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	""
"0000816583"	"00005382"	"90"	"583"	"2"	"583"	"2"	"c.583+2T>C"	"r.spl"	"p.?"	""
"0000816584"	"00005382"	"50"	"2305"	"-34"	"2305"	"-34"	"c.2305-34G>A"	"r.spl?"	"p.?"	""
"0000816585"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.2370_2492del"	"p.Ser831Argfs*2"	""
"0000816586"	"00005382"	"90"	"583"	"2"	"583"	"2"	"c.583+2T>C"	"r.(535_583del)"	"p.(Val179Argfs*82)"	""
"0000816587"	"00005382"	"70"	"2305"	"-34"	"2305"	"-34"	"c.2305-34G>A"	"r.[(2218_2369del,2305_2369del,2218_2304del)]"	"p.(?)"	""
"0000816719"	"00005382"	"70"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000816720"	"00005382"	"70"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	""
"0000816721"	"00005382"	"70"	"1896"	"0"	"1896"	"0"	"c.1896C>A"	"r.(?)"	"p.(Cys632*)"	""
"0000816722"	"00005382"	"70"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000816829"	"00005382"	"70"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	""
"0000817938"	"00005382"	"50"	"159"	"5"	"159"	"5"	"c.159+5G>A"	"r.spl?"	"p.?"	"2i"
"0000817939"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	"3i"
"0000817940"	"00005382"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88*)"	"4"
"0000817941"	"00005382"	"90"	"315"	"0"	"315"	"0"	"c.315G>A"	"r.(?)"	"p.(Trp105*)"	"5"
"0000817942"	"00005382"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Gln116*)"	"5"
"0000817943"	"00005382"	"90"	"385"	"0"	"385"	"0"	"c.385del"	"r.(?)"	"p.(Leu129Trpfs*148)"	"6"
"0000817944"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.(Cys139Alafs*138)"	"6i"
"0000817945"	"00005382"	"90"	"522"	"0"	"522"	"0"	"c.522dup"	"r.(?)"	"p.(Lys175Glnfs*4)"	"8"
"0000817946"	"00005382"	"90"	"534"	"1"	"534"	"1"	"c.534+1G>A"	"r.spl"	"p.?"	"8i"
"0000817947"	"00005382"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Gln222*)"	"10"
"0000817948"	"00005382"	"90"	"761"	"2"	"761"	"2"	"c.761+2T>A"	"r.(?)"	"p.?"	"10i"
"0000817949"	"00005382"	"70"	"807"	"0"	"807"	"0"	"c.807G>C"	"r.(?)"	"p.(Gln269His)"	"11"
"0000817950"	"00005382"	"90"	"832"	"0"	"832"	"0"	"c.832G>T"	"r.(?)"	"p.(Glu278*)"	"11"
"0000817951"	"00005382"	"90"	"875"	"-2"	"875"	"-2"	"c.875-2A>C"	"r.spl"	"p.?"	"12i"
"0000817952"	"00005382"	"70"	"875"	"-5"	"891"	"0"	"c.875-5_891dup"	"r.spl"	"p.?"	"12i_13"
"0000817953"	"00005382"	"90"	"939"	"0"	"939"	"0"	"c.939G>A"	"r.(?)"	"p.(Trp313*)"	"13"
"0000817954"	"00005382"	"90"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318*)"	"13"
"0000817955"	"00005382"	"90"	"1122"	"-9"	"1122"	"-9"	"c.1122-9G>A"	"r.spl"	"p.(Glu374Glufs*7)"	"14i"
"0000817956"	"00005382"	"50"	"1187"	"0"	"1187"	"0"	"c.1187G>A"	"r.(?)"	"p.(Arg396Gln)"	"15"
"0000817957"	"00005382"	"90"	"1219"	"0"	"1219"	"0"	"c.1219dup"	"r.(?)"	"p.(Glu407Glyfs*12)"	"16"
"0000817958"	"00005382"	"90"	"1312"	"0"	"1312"	"0"	"c.1312C>T"	"r.(?)"	"p.(Gln438*)"	"16"
"0000817959"	"00005382"	"90"	"1319"	"0"	"1319"	"0"	"c.1319G>A"	"r.(?)"	"p.(Trp440*)"	"16"
"0000817960"	"00005382"	"50"	"1382"	"0"	"1382"	"0"	"c.1382C>T"	"r.(?)"	"p.(Thr461Met)"	"17"
"0000817961"	"00005382"	"50"	"1589"	"0"	"1589"	"0"	"c.1589C>G"	"r.(?)"	"p.(Pro530Arg)"	"18"
"0000817962"	"00005382"	"90"	"1613"	"0"	"1613"	"0"	"c.1613G>A"	"r.(?)"	"p.(Trp538*)"	"18"
"0000817963"	"00005382"	"50"	"1644"	"-3"	"1644"	"-3"	"c.1644-3C>G"	"r.spl?"	"p.?"	"18i"
"0000817964"	"00005382"	"90"	"1729"	"0"	"1729"	"0"	"c.1729del"	"r.(?)"	"p.(Glu577Serfs*6)"	"19"
"0000817965"	"00005382"	"50"	"1801"	"5"	"1801"	"5"	"c.1801+5G>A"	"r.spl"	"p.?"	"19i"
"0000817966"	"00005382"	"90"	"1896"	"0"	"1896"	"0"	"c.1896C>A"	"r.(?)"	"p.(Cys632*)"	"20"
"0000817967"	"00005382"	"90"	"1917"	"0"	"1917"	"0"	"c.1917G>A"	"r.(?)"	"p.(Trp639*)"	"20"
"0000817968"	"00005382"	"50"	"1941"	"0"	"1941"	"0"	"c.1941C>A"	"r.(?)"	"p.(Ser647Arg)"	"20"
"0000817969"	"00005382"	"90"	"1957"	"2"	"1957"	"2"	"c.1957+2T>G"	"r.spl"	"p.?"	"20i"
"0000817970"	"00005382"	"50"	"2096"	"0"	"2096"	"0"	"c.2096A>G"	"r.(?)"	"p.(Asp699Gly)"	"21"
"0000817971"	"00005382"	"70"	"2093"	"0"	"2104"	"0"	"c.2093_2104dup"	"r.(?)"	"p.(Cys698_Ile701dup)"	"21"
"0000817972"	"00005382"	"50"	"2166"	"6"	"2166"	"6"	"c.2166+6T>G"	"r.spl?"	"p.?"	"21i"
"0000817973"	"00005382"	"90"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Arg729*)"	"22"
"0000817974"	"00005382"	"50"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Arg737His)"	"22"
"0000817975"	"00005382"	"90"	"2218"	"-2"	"2218"	"-2"	"c.2218-2A>G"	"r.spl"	"p.?"	"22i"
"0000817976"	"00005382"	"90"	"2258"	"0"	"2258"	"0"	"c.2258T>A"	"r.(?)"	"p.(Leu753*)"	"23"
"0000817977"	"00005382"	"70"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000817978"	"00005382"	"50"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.(?)"	"p.(Arg762His)"	"23"
"0000817979"	"00005382"	"50"	"2293"	"0"	"2293"	"0"	"c.2293C>T"	"r.(?)"	"p.(Arg765Cys)"	"23"
"0000817980"	"00005382"	"50"	"2294"	"0"	"2294"	"0"	"c.2294G>T"	"r.(?)"	"p.(Arg765Leu)"	"23"
"0000817981"	"00005382"	"90"	"2305"	"-2"	"2305"	"-2"	"c.2305-2A>G"	"r.spl"	"p.?"	"23i"
"0000817982"	"00005382"	"90"	"2353"	"0"	"2353"	"0"	"c.2353A>T"	"r.(?)"	"p.(Lys785*)"	"24"
"0000817983"	"00005382"	"90"	"2361"	"0"	"2361"	"0"	"c.2361C>A"	"r.(?)"	"p.(Tyr787*)"	"24"
"0000817984"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	"25i"
"0000817985"	"00005382"	"90"	"2493"	"-2"	"2493"	"-2"	"c.2493-2A>G"	"r.spl"	"p.?"	"25i"
"0000817986"	"00005382"	"90"	"2493"	"-2"	"2495"	"0"	"c.2493-2_2495delinsGGC"	"r.spl"	"p.?"	"25i_26"
"0000817987"	"00005382"	"50"	"2501"	"0"	"2501"	"0"	"c.2501G>T"	"r.(?)"	"p.(Arg834Leu)"	"26"
"0000817988"	"00005382"	"90"	"2508"	"0"	"2508"	"0"	"c.2508C>A"	"r.(?)"	"p.(Tyr836*)"	"26"
"0000817989"	"00005382"	"70"	"2524"	"0"	"2524"	"0"	"c.2524dup"	"r.(?)"	"p.(Thr842Asnfs*10)"	"26"
"0000817990"	"00005382"	"50"	"2540"	"0"	"2540"	"0"	"c.2540G>A"	"r.(?)"	"p.(Gly847Glu)"	"26"
"0000817991"	"00005382"	"90"	"2542"	"0"	"2543"	"0"	"c.2542_2543insA"	"r.(?)"	"p.(Gly848Glufs*4)"	"26"
"0000817992"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	"26"
"0000817993"	"00005382"	"90"	"2545"	"0"	"2545"	"0"	"c.2545dup"	"r.(?)"	"p.(Leu849Profs*3)"	"26"
"0000817994"	"00005382"	"50"	"2555"	"0"	"2555"	"0"	"c.2555C>T"	"r.(?)"	"p.(Pro852Leu)"	"26"
"0000817995"	"00005382"	"50"	"2662"	"0"	"2662"	"0"	"c.2662G>A"	"r.(?)"	"p.(Ala888Thr)"	"26"
"0000817996"	"00005382"	"50"	"2603"	"0"	"2603"	"0"	"c.2603G>A"	"r.(?)"	"p.(Gly868Asp)"	"26"
"0000817997"	"00005382"	"50"	"2575"	"0"	"2575"	"0"	"c.2575G>A"	"r.(?)"	"p.(Val859Ile)"	"26"
"0000817998"	"00005382"	"90"	"2676"	"0"	"2676"	"0"	"c.2676C>A"	"r.(?)"	"p.(Tyr892*)"	"27"
"0000817999"	"00005382"	"50"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Arg894His)"	"27"
"0000818000"	"00005382"	"90"	"2760"	"0"	"2760"	"0"	"c.2760G>A"	"r.(?)"	"p.(Trp920*)"	"27"
"0000818001"	"00005382"	"90"	"2763"	"0"	"2763"	"0"	"c.2763C>G"	"r.(?)"	"p.(Tyr921*)"	"27"
"0000818002"	"00005382"	"90"	"2762"	"0"	"2765"	"0"	"c.2762_2765del"	"r.(?)"	"p.(Tyr921Cysfs*15)"	"27"
"0000818003"	"00005382"	"90"	"2794"	"1"	"2794"	"1"	"c.2794+1G>A"	"r.spl"	"p.?"	"27i"
"0000818004"	"00005382"	"90"	"2805"	"0"	"2805"	"0"	"c.2805del"	"r.(?)"	"p.(Glu935Aspfs*2)"	"28"
"0000818005"	"00005382"	"90"	"2867"	"0"	"2867"	"0"	"c.2867del"	"r.(?)"	"p.(Ile956Thrfs*15)"	"28"
"0000818006"	"00005382"	"90"	"2888"	"0"	"2889"	"0"	"c.2888_2889del"	"r.(?)"	"p.(Phe963Serfs*4)"	"28"
"0000818007"	"00005382"	"50"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl"	"p.?"	"28i"
"0000818008"	"00005382"	"70"	"2893"	"0"	"2893"	"0"	"c.2893G>A"	"r.spl?"	"p.[(?,Gly965Ser)]"	"29"
"0000818009"	"00005382"	"50"	"2921"	"0"	"2921"	"0"	"c.2921T>G"	"r.(?)"	"p.(Met974Arg)"	"29"
"0000818010"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818011"	"00005382"	"70"	"2966"	"0"	"2966"	"0"	"c.2966T>A"	"r.(?)"	"p.(Val989Glu)"	"29"
"0000818012"	"00005382"	"90"	"2795"	"-1"	"2976"	"1"	"c.(2794+1_2795-1)_(2976+1_2977-1)del"	"r.?"	"p.?"	"27i_29i"
"0000818013"	"00005382"	"70"	"2978"	"0"	"2978"	"0"	"c.2978G>T"	"r.(?)"	"p.(Gly993Val)"	"30"
"0000818014"	"00005382"	"90"	"2980"	"0"	"2980"	"0"	"c.2980G>T"	"r.(?)"	"p.(Glu994*)"	"30"
"0000818015"	"00005382"	"90"	"3044"	"0"	"3050"	"0"	"c.3044_3050del"	"r.(?)"	"p.(Gly1015Valfs*4)"	"30"
"0000818016"	"00005382"	"90"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048Glyfs*13)"	"31"
"0000818017"	"00005382"	"90"	"3131"	"0"	"3149"	"0"	"c.3131_3149del"	"r.(?)"	"p.(Ala1044Glyfs*13)"	"31"
"0000818018"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	"31"
"0000818019"	"00005382"	"90"	"3462"	"1"	"3462"	"1"	"c.3462+1G>A"	"r.spl"	"p.(Arg1081Argfs*68)"	"32i"
"0000818020"	"00005382"	"50"	"2320"	"0"	"2320"	"0"	"c.2320G>A"	"r.(?)"	"p.(Glu774Lys)"	"24"
"0000818021"	"00005382"	"90"	"2492"	"2"	"2492"	"2"	"c.2492+2T>G"	"r.spl"	"p.?"	"25i"
"0000818023"	"00005382"	"90"	"2795"	"-1"	"2976"	"1"	"c.(2794+1_2795-1)_(2976+1_2977-1)del"	"r.?"	"p.?"	"27i_29i"
"0000818024"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818025"	"00005382"	"90"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.(?)"	"p.(Arg762His)"	"23"
"0000818026"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	"26"
"0000818027"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818028"	"00005382"	"90"	"1729"	"0"	"1729"	"0"	"c.1729del"	"r.(?)"	"p.(Glu577Serfs*6)"	"19"
"0000818029"	"00005382"	"90"	"2676"	"0"	"2676"	"0"	"c.2676C>A"	"r.(?)"	"p.(Tyr892*)"	"27"
"0000818030"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818031"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	"26"
"0000818032"	"00005382"	"90"	"2540"	"0"	"2540"	"0"	"c.2540G>A"	"r.(?)"	"p.(Gly847Glu)"	"26"
"0000818033"	"00005382"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88*)"	"4"
"0000818034"	"00005382"	"90"	"2258"	"0"	"2258"	"0"	"c.2258T>A"	"r.(?)"	"p.(Leu753*)"	"23"
"0000818035"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.(Cys139Alafs*138)"	"6i"
"0000818036"	"00005382"	"90"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318*)"	"13"
"0000818037"	"00005382"	"90"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318*)"	"13"
"0000818038"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	"26"
"0000818039"	"00005382"	"90"	"2980"	"0"	"2980"	"0"	"c.2980G>T"	"r.(?)"	"p.(Glu994*)"	"30"
"0000818040"	"00005382"	"90"	"534"	"1"	"534"	"1"	"c.534+1G>A"	"r.spl"	"p.?"	"8i"
"0000818041"	"00005382"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88*)"	"4"
"0000818042"	"00005382"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Gln116*)"	"5"
"0000818043"	"00005382"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Gln222*)"	"10"
"0000818044"	"00005382"	"90"	"807"	"0"	"807"	"0"	"c.807G>C"	"r.(?)"	"p.(Gln269His)"	"11"
"0000818045"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818046"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818056"	"00005382"	"10"	"217"	"46"	"217"	"46"	"c.217+46G>A"	"r.(?)"	"p.(=)"	"3i"
"0000818057"	"00005382"	"10"	"327"	"0"	"327"	"0"	"c.327C>T"	"r.(?)"	"p.(Gly109=)"	"5"
"0000818058"	"00005382"	"10"	"875"	"-36"	"875"	"-36"	"c.875-36A>G"	"r.(?)"	"p.(=)"	"12i"
"0000818059"	"00005382"	"10"	"1122"	"-15"	"1122"	"-15"	"c.1122-15C>T"	"r.(?)"	"p.(=)"	"14i"
"0000818060"	"00005382"	"10"	"1604"	"0"	"1604"	"0"	"c.1604T>C"	"r.(?)"	"p.(Val535Ala)"	"18"
"0000818061"	"00005382"	"10"	"1643"	"39"	"1643"	"39"	"c.1643+39C>G"	"r.(?)"	"p.(=)"	"18i"
"0000818062"	"00005382"	"10"	"1958"	"-14"	"1958"	"-14"	"c.1958-14A>C"	"r.(?)"	"p.(=)"	"20i"
"0000818063"	"00005382"	"10"	"2233"	"0"	"2233"	"0"	"c.2233C>A"	"r.(?)"	"p.(Leu745Ile)"	"23"
"0000818064"	"00005382"	"10"	"2664"	"0"	"2664"	"0"	"c.2664C>A"	"r.(?)"	"p.(Ala888=)"	"27"
"0000818065"	"00005382"	"10"	"2732"	"0"	"2732"	"0"	"c.2732A>G"	"r.(?)"	"p.(Lys911Arg)"	"27"
"0000818066"	"00005382"	"10"	"3462"	"31"	"3462"	"31"	"c.3462+31T>C"	"r.(?)"	"p.(=)"	"32i"
"0000818067"	"00005382"	"10"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Arg100His)"	"5"
"0000818068"	"00005382"	"10"	"1801"	"23"	"1801"	"23"	"c.1801+23T>C"	"r.(=)"	"p.(=)"	"19i"
"0000818069"	"00005382"	"10"	"1950"	"0"	"1950"	"0"	"c.1950G>C"	"r.(=)"	"p.(Pro650=)"	"20"
"0000818072"	"00005382"	"90"	"3462"	"1"	"3462"	"1"	"c.3462+1G>A"	"r.(3243_3462del)"	"p.(Arg1082Profs69*)"	""
"0000818073"	"00005382"	"90"	"939"	"0"	"939"	"0"	"c.939G>A"	"r.(?)"	"p.(Trp313*)"	""
"0000818076"	"00005382"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Gln88Ter)"	""
"0000818077"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818078"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818079"	"00005382"	"90"	"761"	"2"	"761"	"2"	"c.761+2T>A"	"r.spl"	"p.?"	""
"0000818080"	"00005382"	"90"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318Ter)"	""
"0000818081"	"00005382"	"90"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318Ter)"	""
"0000818082"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818083"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818084"	"00005382"	"90"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Arg729Ter)"	""
"0000818085"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849AlafsTer3)"	""
"0000818086"	"00005382"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Gln222Ter)"	""
"0000818087"	"00005382"	"90"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048GlyfsTer13)"	""
"0000818088"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818089"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818090"	"00005382"	"90"	"1917"	"0"	"1917"	"0"	"c.1917G>A"	"r.(?)"	"p.(Trp639*)"	"20"
"0000818091"	"00005382"	"90"	"2361"	"0"	"2361"	"0"	"c.2361C>A"	"r.(?)"	"p.(Tyr787*)"	""
"0000818092"	"00005382"	"50"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Arg737His)"	""
"0000818093"	"00005382"	"50"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818094"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	""
"0000818095"	"00005382"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000818096"	"00005382"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000818097"	"00005382"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000818098"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.(?)"	"p.?"	""
"0000818099"	"00005382"	"90"	"1312"	"0"	"1312"	"0"	"c.1312C>T"	"r.(?)"	"p.(Gln438Ter)"	""
"0000818100"	"00005382"	"90"	"2542"	"0"	"2543"	"0"	"c.2542_2543insA"	"r.(?)"	"p.(Gly848GlufsTer4)"	""
"0000818101"	"00005382"	"90"	"2763"	"0"	"2763"	"0"	"c.2763C>G"	"r.(?)"	"p.(Tyr921Ter)"	""
"0000818102"	"00005382"	"90"	"3044"	"0"	"3050"	"0"	"c.3044_3050del"	"r.(?)"	"p.(Gly1015ValfsTer4)"	""
"0000818103"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	""
"0000818104"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	""
"0000818105"	"00005382"	"90"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048GlyfsTer13)"	""
"0000818106"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051LeufsTer12)"	""
"0000818107"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051LeufsTer12)"	""
"0000818108"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000818109"	"00005382"	"90"	"1122"	"-9"	"1122"	"-9"	"c.1122-9G>A"	"r.(1121_1122ins1122-7_1122-1)"	"p.?"	"14i"
"0000818110"	"00005382"	"90"	"2545"	"0"	"2545"	"0"	"c.2545dup"	"r.(?)"	"p.(Leu849ProfsTer3)"	""
"0000818111"	"00005382"	"90"	"2545"	"0"	"2545"	"0"	"c.2545dup"	"r.(?)"	"p.(Leu849ProfsTer3)"	""
"0000818112"	"00005382"	"90"	"1896"	"0"	"1896"	"0"	"c.1896C>A"	"r.(?)"	"p.(Cys632Ter)"	""
"0000818113"	"00005382"	"90"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	""
"0000818114"	"00005382"	"90"	"2508"	"0"	"2508"	"0"	"c.2508C>A"	"r.(?)"	"p.(Tyr836Ter)"	""
"0000818115"	"00005382"	"90"	"2218"	"-2"	"2218"	"-2"	"c.2218-2A>G"	"r.spl"	"p.?"	""
"0000818116"	"00005382"	"90"	"522"	"0"	"522"	"0"	"c.522dup"	"r.(?)"	"p.(Lys175GlnfsTer4)"	""
"0000818117"	"00005382"	"90"	"522"	"0"	"522"	"0"	"c.522dup"	"r.(?)"	"p.(Lys175GlnfsTer4)"	""
"0000818118"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051LeufsTer12)"	""
"0000818119"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818120"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818121"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818122"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818123"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849AlafsTer3)"	""
"0000818124"	"00005382"	"90"	"2034"	"0"	"2034"	"0"	"c.2034G>A"	"r.(?)"	"p.(Trp678Ter)"	""
"0000818125"	"00005382"	"90"	"1431"	"0"	"1431"	"0"	"c.1431C>A"	"r.(?)"	"p.(Cys477Ter)"	""
"0000818126"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818127"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	""
"0000818128"	"00005382"	"90"	"2492"	"1"	"2492"	"1"	"c.2492+1G>A"	"r.spl"	"p.?"	""
"0000818129"	"00005382"	"90"	"583"	"2"	"583"	"2"	"c.583+2T>C"	"r.spl"	"p.?"	""
"0000818130"	"00005382"	"50"	"2127"	"0"	"2127"	"0"	"c.2127C>G"	"r.(?)"	"p.(Phe709Leu)"	""
"0000818131"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000818132"	"00005382"	"90"	"2092"	"0"	"2092"	"0"	"c.2092T>C"	"r.(?)"	"p.(Cys698Arg)"	""
"0000818133"	"00005382"	"90"	"2092"	"0"	"2092"	"0"	"c.2092T>C"	"r.(?)"	"p.(Cys698Arg)"	""
"0000818134"	"00005382"	"50"	"2305"	"-34"	"2305"	"-34"	"c.2305-34G>A"	"r.spl ?"	"p.?"	""
"0000818136"	"00005382"	"90"	"385"	"0"	"385"	"0"	"c.385del"	"r.(?)"	"p.(Leu129Trpfs*148)"	""
"0000818137"	"00005382"	"90"	"2507"	"0"	"2509"	"0"	"c.(2507_2509delinsCTAGCTAC)"	"r.(2493_2634del)"	"p.(Ser831Argfs*2)"	""
"0000818497"	"00005382"	"90"	"2545"	"0"	"2545"	"0"	"c.2545dup"	"r.(?)"	"p.(Leu849Profs*3)"	""
"0000818498"	"00005382"	"90"	"2545"	"0"	"2545"	"0"	"c.2545dup"	"r.(?)"	"p.(Leu849Profs*3)"	""
"0000818505"	"00005382"	"90"	"522"	"0"	"522"	"0"	"c.522dup"	"r.(?)"	"p.(Lys175Glnfs*4)"	""
"0000818506"	"00005382"	"90"	"522"	"0"	"522"	"0"	"c.522dup"	"r.(?)"	"p.(Lys175Glnfs*4)"	""
"0000818507"	"00005382"	"90"	"2603"	"0"	"2603"	"0"	"c.2603G>A"	"r.(?)"	"p.(Gly868Asp)"	""
"0000818508"	"00005382"	"90"	"2093"	"0"	"2104"	"0"	"c.2093_2104dup"	"r.(?)"	"p.(Cys698_Ile701dup)"	""
"0000818509"	"00005382"	"50"	"2575"	"0"	"2575"	"0"	"c.2575G>A"	"r.(?)"	"p.(Val859Ile)"	"26"
"0000818510"	"00005382"	"50"	"1941"	"0"	"1941"	"0"	"c.1941C>A"	"r.(?)"	"p.(Ser647Arg)"	"20"
"0000818511"	"00005382"	"90"	"2867"	"0"	"2867"	"0"	"c.2867del"	"r.(?)"	"p.(Ile956Thrfs*15)"	"28"
"0000818512"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000818513"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	"3i"
"0000818514"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>C"	"r.spl?"	"p.?"	"3i"
"0000818515"	"00005382"	"90"	"2867"	"0"	"2867"	"0"	"c.2867del"	"r.(?)"	"p.(Ile956Thrfs*15)"	"28"
"0000818516"	"00005382"	"50"	"159"	"5"	"159"	"5"	"c.159+5G>A"	"r.spl?"	"p.?"	"2i"
"0000818517"	"00005382"	"50"	"2320"	"0"	"2320"	"0"	"c.2320G>A"	"r.(?)"	"p.(Glu774Lys)"	"24"
"0000818518"	"00005382"	"50"	"2555"	"0"	"2555"	"0"	"c.2555C>T"	"r.(?)"	"p.(Pro852Leu)"	"26"
"0000818519"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818520"	"00005382"	"90"	"2794"	"1"	"2794"	"1"	"c.2794+1G>A"	"r.spl"	"p.?"	"27i"
"0000818521"	"00005382"	"50"	"2662"	"0"	"2662"	"0"	"c.2662G>A"	"r.(?)"	"p.(Ala888Thr)"	"26"
"0000818522"	"00005382"	"90"	"832"	"0"	"832"	"0"	"c.832G>T"	"r.(?)"	"p.(Glu278*)"	"11"
"0000818523"	"00005382"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Gln116*)"	"5"
"0000818524"	"00005382"	"50"	"1644"	"-3"	"1644"	"-3"	"c.1644-3C>G"	"r.spl?"	"p.?"	"18i"
"0000818525"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818526"	"00005382"	"50"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl"	"p.?"	"28i"
"0000818527"	"00005382"	"50"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl"	"p.?"	"28i"
"0000818528"	"00005382"	"90"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Arg729Ter)"	""
"0000818529"	"00005382"	"90"	"3131"	"0"	"3149"	"0"	"c.3131_3149del"	"r.(?)"	"p.(Ala1044Glyfs*13)"	"31"
"0000818530"	"00005382"	"90"	"1319"	"0"	"1319"	"0"	"c.1319G>A"	"r.(?)"	"p.(Trp440*)"	"16"
"0000818531"	"00005382"	"90"	"1319"	"0"	"1319"	"0"	"c.1319G>A"	"r.(?)"	"p.(Trp440*)"	"16"
"0000818532"	"00005382"	"90"	"1219"	"0"	"1219"	"0"	"c.1219dup"	"r.(?)"	"p.(Glu407Glyfs*12)"	"16"
"0000818533"	"00005382"	"70"	"2284"	"0"	"2284"	"0"	"c.2284C>T"	"r.(?)"	"p.(Arg762Cys)"	"23"
"0000818534"	"00005382"	"90"	"2305"	"-2"	"2305"	"-2"	"c.2305-2A>G"	"r.spl"	"p.?"	"23i"
"0000818535"	"00005382"	"90"	"939"	"0"	"939"	"0"	"c.939G>A"	"r.(?)"	"p.(Trp313*)"	"13"
"0000818536"	"00005382"	"90"	"315"	"0"	"315"	"0"	"c.315G>A"	"r.(?)"	"p.(Trp105*)"	"5"
"0000818537"	"00005382"	"90"	"2762"	"0"	"2765"	"0"	"c.2762_2765del"	"r.(?)"	"p.(Tyr921Cysfs*15)"	"27"
"0000818538"	"00005382"	"90"	"2353"	"0"	"2353"	"0"	"c.2353A>T"	"r.(?)"	"p.(Lys785*)"	"24"
"0000818539"	"00005382"	"90"	"1613"	"0"	"1613"	"0"	"c.1613G>A"	"r.(?)"	"p.(Trp538*)"	"18"
"0000818540"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	"31"
"0000818541"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818542"	"00005382"	"70"	"2966"	"0"	"2966"	"0"	"c.2966T>A"	"r.(?)"	"p.(Val989Glu)"	"29"
"0000818543"	"00005382"	"50"	"1941"	"0"	"1941"	"0"	"c.1941C>A"	"r.(?)"	"p.(Ser647Arg)"	"20"
"0000818544"	"00005382"	"90"	"1957"	"2"	"1957"	"2"	"c.1957+2T>G"	"r.spl"	"p.?"	"20i"
"0000818545"	"00005382"	"50"	"2166"	"6"	"2166"	"6"	"c.2166+6T>G"	"r.spl?"	"p.?"	"21i"
"0000818546"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>A"	"r.spl?"	"p.?"	"3i"
"0000818547"	"00005382"	"90"	"2305"	"-2"	"2305"	"-2"	"c.2305-2A>G"	"r.spl"	"p.?"	"23i"
"0000818548"	"00005382"	"90"	"2305"	"-2"	"2305"	"-2"	"c.2305-2A>G"	"r.spl"	"p.?"	"23i"
"0000818549"	"00005382"	"90"	"2492"	"2"	"2492"	"2"	"c.2492+2T>G"	"r.spl"	"p.?"	"25i"
"0000818550"	"00005382"	"50"	"2501"	"0"	"2501"	"0"	"c.2501G>T"	"r.(?)"	"p.(Arg834Leu)"	"26"
"0000818551"	"00005382"	"50"	"2662"	"0"	"2662"	"0"	"c.2662G>A"	"r.(?)"	"p.(Ala888Thr)"	"26"
"0000818552"	"00005382"	"90"	"2805"	"0"	"2805"	"0"	"c.2805del"	"r.(?)"	"p.(Glu935Aspfs*2)"	"28"
"0000818553"	"00005382"	"50"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl"	"p.?"	"28i"
"0000818554"	"00005382"	"50"	"2921"	"0"	"2921"	"0"	"c.2921T>G"	"r.(?)"	"p.(Met974Arg)"	"29"
"0000818555"	"00005382"	"50"	"2921"	"0"	"2921"	"0"	"c.2921T>G"	"r.(?)"	"p.(Met974Arg)"	"29"
"0000818556"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818557"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818558"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818559"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000818560"	"00005382"	"90"	"3150"	"0"	"3150"	"0"	"c.3150del"	"r.(?)"	"p.(Phe1051Leufs*12)"	"31"
"0000818965"	"00005382"	"70"	"2305"	"-1"	"2794"	"1"	"c.(2304+1_2305-1)_(2794+1_2795-1)del"	"r.?"	"p.?"	"23i_27i"
"0000818966"	"00005382"	"70"	"2305"	"-1"	"2794"	"1"	"c.(2304+1_2305-1)_(2794+1_2795-1)del"	"r.?"	"p.?"	"23i_27i"
"0000819045"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000819053"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000819054"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000819667"	"00005382"	"70"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.(?)"	""
"0000820015"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000820151"	"00005382"	"70"	"2603"	"0"	"2603"	"0"	"c.2603G>A"	"r.(?)"	"p.(Gly868Asp)"	""
"0000820212"	"00005382"	"70"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl?"	"p.(?)"	""
"0000820230"	"00005382"	"70"	"315"	"0"	"315"	"0"	"c.315G>A"	"r.(?)"	"p.(Trp105*)"	""
"0000820233"	"00005382"	"70"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl?"	"p.(?)"	""
"0000820358"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000820430"	"00005382"	"70"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Arg737His)"	""
"0000820540"	"00005382"	"70"	"2867"	"0"	"2867"	"0"	"c.2867del"	"r.(?)"	"p.(Ile956Thrfs*15)"	""
"0000820693"	"00005382"	"70"	"3139"	"0"	"3142"	"0"	"c.3139_3142dup"	"r.(?)"	"p.(Ala1048Glyfs*13)"	""
"0000820787"	"00005382"	"70"	"2794"	"1"	"2794"	"1"	"c.2794+1G>A"	"r.spl"	"p.(?)"	""
"0000820883"	"00005382"	"70"	"3044"	"0"	"3050"	"0"	"c.3044_3050del"	"r.(?)"	"p.(Gly1015Valfs*4)"	""
"0000820912"	"00005382"	"70"	"2763"	"0"	"2763"	"0"	"c.2763C>G"	"r.(?)"	"p.(Tyr921*)"	""
"0000820963"	"00005382"	"70"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.spl?"	"p.(?)"	""
"0000821215"	"00005382"	"70"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Arg729*)"	""
"0000821216"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.(?)"	""
"0000821217"	"00005382"	"70"	"2676"	"0"	"2676"	"0"	"c.2676C>A"	"r.(?)"	"p.(Tyr892*)"	""
"0000821218"	"00005382"	"70"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.(?)"	"p.(Arg762His)"	""
"0000821539"	"00005382"	"70"	"2980"	"0"	"2980"	"0"	"c.2980G>T"	"r.(?)"	"p.(Glu994*)"	""
"0000822050"	"00005382"	"70"	"2293"	"0"	"2293"	"0"	"c.2293C>T"	"r.(?)"	"p.(Arg765Cys)"	""
"0000822409"	"00005382"	"70"	"1658"	"0"	"1658"	"0"	"c.1658C>A"	"r.(?)"	"p.(Ala553Glu)"	"19"
"0000822410"	"00005382"	"70"	"2662"	"0"	"2662"	"0"	"c.2662G>A"	"r.(?)"	"p.(Ala888Thr)"	"27"
"0000822942"	"00005382"	"70"	"973"	"0"	"973"	"0"	"c.973C>T"	"r.(?)"	"p.(Gln325*)"	""
"0000822978"	"00005382"	"70"	"2977"	"-2"	"2977"	"-2"	"c.2977-2del"	"r.spl"	"p.(?)"	""
"0000826049"	"00005382"	"70"	"2284"	"0"	"2284"	"0"	"c.2284C>A"	"r.(?)"	"p.(Arg762Ser)"	"23"
"0000826050"	"00005382"	"70"	"2288"	"0"	"2288"	"0"	"c.2288T>G"	"r.(?)"	"p.(Leu763Arg)"	"23"
"0000826500"	"00005382"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"29"
"0000826501"	"00005382"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"29"
"0000827205"	"00005382"	"90"	"827"	"0"	"834"	"0"	"c.827_834del"	"r.(?)"	"p.(Ile276Thrfs*4)"	"11"
"0000827206"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000827207"	"00005382"	"50"	"2629"	"0"	"2629"	"0"	"c.2629G>A"	"r.(?)"	"p.(Gly877Arg)"	"26"
"0000827208"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl?"	"p.?"	"6i"
"0000827211"	"00005382"	"90"	"1957"	"2"	"1957"	"2"	"c.1957+2T>G"	"r.spl?"	"p.?"	"20i"
"0000827212"	"00005382"	"90"	"1333"	"0"	"1333"	"0"	"c.1333G>T"	"r.(?)"	"p.(Glu445*)"	"16"
"0000827213"	"00005382"	"50"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"18"
"0000827214"	"00005382"	"50"	"451"	"0"	"451"	"0"	"c.451G>C"	"r.(?)"	"p.(Asp151His)"	"7"
"0000827215"	"00005382"	"90"	"2762"	"0"	"2765"	"0"	"c.2762_2765del"	"r.(?)"	"p.(Tyr921Cysfs*15)"	"27"
"0000827216"	"00005382"	"50"	"2296"	"0"	"2296"	"0"	"c.2296T>C"	"r.(?)"	"p.(Cys766Arg)"	"23"
"0000827217"	"00005382"	"50"	"1949"	"0"	"1949"	"0"	"c.1949C>T"	"r.(?)"	"p.(Pro650Leu)"	"20"
"0000828858"	"00005382"	"90"	"1536"	"-41"	"1552"	"0"	"c.1536-41_1552del"	"r.spl"	"p.(?)"	""
"0000834547"	"00005382"	"50"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Arg894His)"	""
"0000854573"	"00005382"	"30"	"2492"	"19"	"2492"	"19"	"c.2492+19C>G"	"r.(=)"	"p.(=)"	""
"0000854574"	"00005382"	"30"	"90"	"0"	"90"	"0"	"c.90G>A"	"r.(?)"	"p.(Glu30=)"	""
"0000864870"	"00005382"	"30"	"3541"	"0"	"3541"	"0"	"c.3541A>G"	"r.(?)"	"p.(Thr1181Ala)"	""
"0000864871"	"00005382"	"30"	"2526"	"0"	"2526"	"0"	"c.2526C>T"	"r.(?)"	"p.(Thr842=)"	""
"0000864872"	"00005382"	"50"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Arg567Trp)"	""
"0000864873"	"00005382"	"30"	"1430"	"0"	"1430"	"0"	"c.1430G>A"	"r.(?)"	"p.(Cys477Tyr)"	""
"0000893101"	"00005382"	"30"	"3462"	"8"	"3462"	"8"	"c.3462+8G>T"	"r.(=)"	"p.(=)"	""
"0000893102"	"00005382"	"30"	"2238"	"0"	"2238"	"0"	"c.2238G>C"	"r.(?)"	"p.(Leu746=)"	""
"0000896661"	"00005382"	"90"	"1536"	"-41"	"1552"	"0"	"c.1536-41_1552del"	"r.spl"	"p.?"	""
"0000905954"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000905955"	"00005382"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Gln116*)"	""
"0000915790"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000916016"	"00005382"	"50"	"2085"	"0"	"2085"	"0"	"c.2085T>G"	"r.(?)"	"p.(Asp695Glu)"	"21"
"0000916067"	"00005382"	"70"	"2305"	"-1"	"2794"	"1"	"c.(2304+1_2305-1)_(2794+1_2795-1)del"	"r.?"	"p.(Tyr769Metfs*5)"	""
"0000916078"	"00005382"	"70"	"1122"	"-9"	"1122"	"-9"	"c.1122-9G>A"	"r.(=)"	"p.(Glu374Glufs*7)"	"14i"
"0000916095"	"00005382"	"70"	"2104"	"0"	"2104"	"0"	"c.2104T>A"	"r.(?)"	"p.(Tyr702Asn)"	"21"
"0000916096"	"00005382"	"70"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.(=)"	"p.(?)"	"28i"
"0000916117"	"00005382"	"90"	"60"	"0"	"60"	"0"	"c.60del"	"r.(?)"	"p.(Met21Cysfs*75)"	"2"
"0000916148"	"00005382"	"70"	"2893"	"-7"	"2893"	"-7"	"c.2893-7G>A"	"r.(=)"	"p.(?)"	"28i"
"0000916223"	"00005382"	"70"	"1957"	"2"	"1957"	"2"	"c.1957+2T>G"	"r.spl?"	"p.(?)"	"20i"
"0000916224"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544dup"	"r.(?)"	"p.(Leu849Alafs*3)"	"26"
"0000916239"	"00005382"	"50"	"217"	"5"	"217"	"5"	"c.217+5G>A"	"r.spl?"	"p.(?)"	"3i"
"0000916240"	"00005382"	"50"	"2209"	"0"	"2209"	"0"	"c.2209C>T"	"r.(?)"	"p.(Arg737Cys)"	"22"
"0000916295"	"00005382"	"90"	"2294"	"0"	"2294"	"0"	"c.2294G>A"	"r.(?)"	"p.(Arg765His)"	"23"
"0000916366"	"00005382"	"50"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.(?)"	"p.(Val957Ile)"	"28"
"0000916367"	"00005382"	"50"	"3415"	"0"	"3415"	"0"	"c.3415C>G"	"r.(?)"	"p.(Leu1139Val)"	"32"
"0000916391"	"00005382"	"70"	"367"	"0"	"367"	"0"	"c.367G>T"	"r.(?)"	"p.(Glu123*)"	"5"
"0000916392"	"00005382"	"70"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.(?)"	"p.(Arg762His)"	"23"
"0000916429"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000916600"	"00005382"	"90"	"952"	"0"	"952"	"0"	"c.952C>T"	"r.(?)"	"p.(Gln318*)"	"13"
"0000916601"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	"29"
"0000916765"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl?"	"p.(?)"	"6i"
"0000916766"	"00005382"	"70"	"2653"	"0"	"2653"	"0"	"c.2653del"	"r.(?)"	"p.(Ala885Profs*17)"	"27"
"0000921485"	"00005382"	"70"	"3115"	"0"	"3115"	"0"	"c.3115G>A"	"r.(?)"	"p.(Gly1039Arg)"	""
"0000926313"	"00005382"	"50"	"3244"	"0"	"3244"	"0"	"c.3244C>T"	"r.(?)"	"p.(Arg1082Cys)"	""
"0000933382"	"00005382"	"90"	"290"	"2"	"290"	"2"	"c.290+2T>C"	"r.spl?"	"p.?"	""
"0000933383"	"00005382"	"90"	"290"	"2"	"290"	"2"	"c.290+2T>C"	"r.spl?"	"p.?"	""
"0000933388"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000933407"	"00005382"	"90"	"1676"	"0"	"1676"	"0"	"c.1676C>A"	"r.(?)"	"p.(Thr559Lys)"	""
"0000933408"	"00005382"	"90"	"1720"	"0"	"1720"	"0"	"c.1720C>T"	"r.(?)"	"p.(Leu574Phe)"	""
"0000953883"	"00005382"	"90"	"2544"	"0"	"2544"	"0"	"c.2544del"	"r.(?)"	"p.(Leu849CysfsTer15)"	""
"0000953900"	"00005382"	"90"	"1035"	"-1"	"1035"	"-1"	"c.1035-1G>A"	"r.spl"	"p.?"	""
"0000958070"	"00005382"	"90"	"2759"	"0"	"2759"	"0"	"c.2759G>A"	"r.(?)"	"p.(Trp920Ter)"	""
"0000958459"	"00005382"	"90"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000958944"	"00005382"	"50"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Arg737His)"	""
"0000959246"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000959462"	"00005382"	"90"	"413"	"-1"	"413"	"-1"	"c.413-1G>A"	"r.spl"	"p.?"	""
"0000968420"	"00005382"	"50"	"2548"	"0"	"2548"	"0"	"c.2548C>G"	"r.(?)"	"p.(Pro850Ala)"	""
"0000968422"	"00005382"	"30"	"2217"	"9"	"2217"	"9"	"c.2217+9C>T"	"r.(=)"	"p.(=)"	""
"0000968423"	"00005382"	"10"	"2193"	"0"	"2193"	"0"	"c.2193C>T"	"r.(?)"	"p.(Asn731=)"	""
"0000968427"	"00005382"	"30"	"256"	"0"	"256"	"0"	"c.256C>T"	"r.(?)"	"p.(Arg86Trp)"	""
"0000968428"	"00005382"	"70"	"218"	"-2"	"218"	"-2"	"c.218-2A>G"	"r.spl?"	"p.?"	""
"0000981965"	"00005382"	"70"	"2957"	"0"	"2957"	"0"	"c.2957A>T"	"r.(?)"	"p.(Asn986Ile)"	""
"0000987686"	"00005382"	"70"	"2493"	"-2"	"2495"	"0"	"c.2493-2_2495delinsGGC"	"r.spl"	"p.?"	""
"0000987687"	"00005382"	"70"	"2493"	"-2"	"2495"	"0"	"c.2493-2_2495delinsGGC"	"r.spl"	"p.?"	""
"0001002446"	"00005382"	"50"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0001015402"	"00005382"	"50"	"2629"	"0"	"2629"	"0"	"c.2629G>A"	"r.(?)"	"p.(Gly877Arg)"	""
"0001015403"	"00005382"	"90"	"1122"	"0"	"1123"	"0"	"c.1122_1123insT"	"r.(?)"	"p.(Val375Cysfs*5)"	""
"0001041220"	"00005382"	"50"	"1086"	"0"	"1091"	"0"	"c.1086_1091del"	"r.(?)"	"p.(Glu370_Glu371del)"	""
"0001041221"	"00005382"	"30"	"585"	"0"	"585"	"0"	"c.585G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 530
"{{screeningid}}"	"{{variantid}}"
"0000078715"	"0000125818"
"0000078716"	"0000125819"
"0000078717"	"0000125866"
"0000078763"	"0000125868"
"0000078765"	"0000125870"
"0000078915"	"0000126482"
"0000078916"	"0000126483"
"0000078917"	"0000126484"
"0000079189"	"0000127762"
"0000079191"	"0000127779"
"0000079193"	"0000127781"
"0000079193"	"0000127782"
"0000079195"	"0000127784"
"0000079196"	"0000127785"
"0000079197"	"0000127786"
"0000079198"	"0000127787"
"0000079199"	"0000127788"
"0000079200"	"0000127789"
"0000079200"	"0000735186"
"0000096352"	"0000158345"
"0000105472"	"0000170893"
"0000144825"	"0000784149"
"0000145016"	"0000788330"
"0000145130"	"0000784152"
"0000147972"	"0000241252"
"0000147972"	"0000241253"
"0000156304"	"0000358226"
"0000234474"	"0000477182"
"0000234475"	"0000477183"
"0000234476"	"0000477184"
"0000234477"	"0000477185"
"0000234478"	"0000477186"
"0000234479"	"0000477187"
"0000234480"	"0000477188"
"0000234481"	"0000477189"
"0000234482"	"0000477190"
"0000234483"	"0000477191"
"0000234484"	"0000477192"
"0000234485"	"0000477193"
"0000234486"	"0000477194"
"0000234487"	"0000477195"
"0000234488"	"0000477196"
"0000234489"	"0000477197"
"0000234490"	"0000477198"
"0000234491"	"0000477199"
"0000234492"	"0000477200"
"0000234493"	"0000477201"
"0000234494"	"0000477202"
"0000234495"	"0000477203"
"0000234496"	"0000477204"
"0000234497"	"0000477205"
"0000234498"	"0000477206"
"0000234499"	"0000477207"
"0000234500"	"0000477208"
"0000234501"	"0000477209"
"0000234502"	"0000477210"
"0000234503"	"0000477211"
"0000234504"	"0000477212"
"0000234505"	"0000477213"
"0000234506"	"0000477214"
"0000234507"	"0000477215"
"0000234508"	"0000477216"
"0000234509"	"0000477217"
"0000234510"	"0000477218"
"0000234511"	"0000477219"
"0000234512"	"0000477220"
"0000234513"	"0000477221"
"0000234514"	"0000477222"
"0000234515"	"0000477223"
"0000234516"	"0000477224"
"0000234517"	"0000477225"
"0000234518"	"0000477226"
"0000234519"	"0000477227"
"0000234520"	"0000477228"
"0000234521"	"0000477229"
"0000234522"	"0000477230"
"0000234523"	"0000477231"
"0000234524"	"0000477232"
"0000234890"	"0000477598"
"0000234891"	"0000477599"
"0000234892"	"0000477600"
"0000234893"	"0000477601"
"0000234894"	"0000477602"
"0000292677"	"0000649366"
"0000292678"	"0000649367"
"0000292679"	"0000649368"
"0000292680"	"0000649369"
"0000292681"	"0000649370"
"0000292682"	"0000649371"
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