### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MERTK)
# 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}}"
"MERTK"	"c-mer proto-oncogene tyrosine kinase"	"2"	"q14.1"	"unknown"	"NG_011607.1"	"UD_132118365859"	""	"https://www.LOVD.nl/MERTK"	""	"1"	"7027"	"10461"	"604705"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases</font>.\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/MERTK_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-06 00:00:00"	"00006"	"2018-08-03 16:17:12"	"00006"	"2025-11-24 13:14:39"


## 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}}"
"00012010"	"MERTK"	"c-mer proto-oncogene tyrosine kinase"	"001"	"NM_006343.2"	""	"NP_006334.2"	""	""	""	"-122"	"3504"	"3000"	"112656191"	"112786945"	""	"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"	""	""
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"03472"	"RP38"	"retinitis pigmentosa, type 38 (RP38)"	"AR"	"613862"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"MERTK"	"03472"
"MERTK"	"04214"


## Individuals ## Do not remove or alter this header ##
## Count = 313
"{{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}}"
"00001795"	""	""	""	"1"	""	"00102"	"{PMID:Wang 2014a:24154662}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00001796"	""	""	""	"1"	""	"00102"	"{PMID:Wang 2014a:24154662}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00088063"	""	""	""	"3"	""	"00243"	""	"2 families, with three affecteds (two sibs and a cousin), unaffected heterozygous carriers parents and one unaffected heterozygous carrier"	"F"	"yes"	"India"	""	"0"	""	""	"South Indian"	""
"00100097"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61173"
"00105035"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2014:24516651}"	""	"F"	"?"	"Spain"	""	"0"	""	""	""	""
"00144249"	""	""	""	"1"	""	"01780"	"{PMID:Eisenberger 2014:24265693}"	""	"M"	"no"	"Austria"	""	"0"	""	""	""	""
"00155496"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00173823"	""	""	""	"1"	""	"00006"	"{PMID:Ellingford 2016:27208204}"	""	""	""	""	""	"0"	""	""	""	"12015109"
"00173824"	""	""	""	"1"	""	"00006"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	""	""	"0"	""	""	""	"CIC03112"
"00173825"	""	""	""	"1"	""	"00006"	"{PMID:Mackay 2010:20300561}"	""	""	""	""	""	"0"	""	""	"Middle East"	"?"
"00173826"	""	""	""	"1"	""	"00006"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"10DG1152"
"00173827"	""	""	""	"1"	""	"00006"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"11DG1924"
"00173828"	""	""	""	"1"	""	"00006"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0434"
"00173829"	""	""	""	"1"	""	"00006"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG1797"
"00173830"	""	""	""	"1"	""	"00006"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"13DG0011"
"00173831"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2014b:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"21"
"00173832"	""	""	""	"1"	""	"02449"	"{PMID:Ostergaard 2011:21677792}"	""	""	""	"Faroe Islands"	""	"0"	""	""	""	"?"
"00173833"	""	""	""	"1"	""	"02449"	"{PMID:Jinda 2016:27122965}"	""	""	""	"Thailand"	""	"0"	""	""	""	"?"
"00173834"	""	""	""	"1"	""	"02449"	"{PMID:Tada 2006:16710167}"	""	""	""	"Japan"	""	"0"	""	""	""	"?"
"00173835"	""	""	""	"1"	""	"02449"	"{PMID:Tschernutter 2006:16714263}"	""	""	""	"Pakistan"	""	"0"	""	""	""	"?"
"00173836"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"France"	""	"0"	""	""	""	"?"
"00173837"	""	""	""	"1"	""	"02449"	"{PMID:Mackay 2010:20300561}"	""	"M"	"no"	""	""	"0"	""	""	"white"	"?"
"00173838"	""	""	""	"1"	""	"02449"	"{PMID:Wang 2014b:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"20"
"00173840"	""	""	""	"1"	""	"02449"	"{PMID:Oishi 2014:25324289}"	""	""	""	"Japan"	""	"0"	""	""	""	"K6484"
"00173841"	""	""	""	"1"	""	"02449"	"{PMID:Yang 2018:29437494}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00173842"	""	""	""	"1"	""	"02449"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0949"
"00173843"	""	""	""	"1"	""	"02449"	"{PMID:Tada 2006:16710167}"	""	""	""	"Japan"	""	"0"	""	""	""	"?"
"00173845"	""	""	""	"1"	""	"02449"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"?"
"00173846"	""	""	""	"1"	""	"02449"	"{PMID:Mandal 2005:16123440}"	"4-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	"yes"	"United States"	""	"0"	""	""	""	"?"
"00173847"	""	""	""	"2"	""	"02449"	"Khan 2017"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00173848"	""	""	""	"1"	""	"02449"	"{PMID:Li 2011:21602930}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00173849"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"France"	""	"0"	""	""	""	"?"
"00173850"	""	""	""	"1"	""	"02449"	"{PMID:Shahzadi 2010:20538656}"	""	""	""	"Pakistan"	""	"0"	""	""	""	"?"
"00173851"	""	""	""	"1"	""	"02449"	"{PMID:Srilekha 2015:26147992}"	""	""	""	"India"	""	"0"	""	""	""	"Fam-arRP1"
"00173852"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"Russia"	""	"0"	""	""	""	"?"
"00173853"	""	""	""	"1"	""	"02449"	"{PMID:Xu 2014) who considered it as less likely pathogenic with additional more pathogenic variant as a disease cause"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00173854"	""	""	""	"1"	""	"02449"	"{PMID:Evans 2017:28324114}"	""	""	""	"Canada"	""	"0"	""	""	"Newfoundland"	"?"
"00173855"	""	""	""	"1"	""	"02449"	"{PMID:Ellingford 2016:27208204}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"13000107"
"00173856"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"Italy"	""	"0"	""	""	""	"?"
"00173857"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"Madagascar"	""	"0"	""	""	""	"?"
"00173858"	""	""	""	"1"	""	"02449"	"{PMID:Lukovic 2015:26263531}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00173859"	""	""	""	"1"	""	"02449"	"{PMID:Mackay 2010:20300561}"	""	""	""	""	""	"0"	""	""	"Middle East"	"?"
"00173860"	""	""	""	"1"	""	"02449"	"{PMID:Collin 2011:22128245}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"?"
"00173861"	""	""	""	"1"	""	"02449"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP300"
"00173863"	""	""	""	"1"	""	"02449"	"Mendez-Vidal 2014"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00173864"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	""	""	"0"	""	""	"North Africa"	"?"
"00173865"	""	""	""	"1"	""	"02449"	"{PMID:Aldahmesh 2009:19956407}"	"2-generation family, 2 affected brothers, unaffected parents"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"?"
"00173866"	""	""	""	"2"	""	"02449"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP207"
"00173867"	""	""	""	"1"	""	"02449"	"{PMID:Eisenberger 2013:24265693}"	""	""	""	"Italy"	""	"0"	""	""	""	"?"
"00173868"	""	""	""	"1"	""	"02449"	"{PMID:Eisenberger 2013:24265693}"	""	""	""	"Germany"	""	"0"	""	""	""	"?"
"00173869"	""	""	""	"1"	""	"02449"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG2585"
"00173870"	""	""	""	"1"	""	"02449"	"{PMID:Gal 2000:11062461}"	""	""	""	"(Germany)"	""	"0"	""	""	""	"?"
"00173871"	""	""	""	"1"	""	"02449"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"W78-1"
"00173872"	""	""	""	"1"	""	"02449"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP191"
"00173873"	""	""	""	"1"	""	"02449"	"{PMID:Eisenberger 2013:24265693}"	""	""	""	"Turkey"	""	"0"	""	""	""	"?"
"00173874"	""	""	""	"1"	""	"02449"	"{PMID:Eisenberger 2013:24265693}"	""	""	""	"Germany"	""	"0"	""	""	""	"?"
"00173875"	""	""	""	"2"	""	"02449"	"{PMID:Ge 2015:26667666}"	"2-generation family, affected mother/daughter"	"F"	""	"United States"	""	"0"	""	""	""	"3HV+M.66"
"00173876"	""	""	""	"1"	""	"02449"	"{PMID:Ellingford 2016:27208204}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"13001452"
"00173877"	""	""	""	"1"	""	"02449"	"{PMID:Coppieters 2012:22261762}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00173878"	""	""	""	"1"	""	"02449"	"{PMID:Gal 2000:11062461}"	""	""	""	""	""	"0"	""	""	"(Germany)"	"?"
"00173879"	""	""	""	"2"	""	"02449"	"{PMID:Riera 2017:28181551}"	"4-generation family, affected brother/sister"	"F;M"	""	"Spain"	""	"0"	""	""	""	"Fi15/20"
"00173880"	""	""	""	"2"	""	"02449"	"{PMID:Siemiatkowska 2011:22128245}"	"2-generation family, affected sister/brother, unaffected parents"	"F;M"	""	"Indonesia"	""	"0"	""	""	""	"22128245-FamW09–0038"
"00173881"	""	""	""	"1"	""	"02449"	"{PMID:Gal 2000:11062461}"	""	""	""	""	""	"0"	""	""	"(Germany)"	"?"
"00173882"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"Lebanon"	""	"0"	""	""	""	"?"
"00173883"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"France"	""	"0"	""	""	""	"?"
"00173884"	""	""	""	"1"	""	"02449"	"{PMID:Audo 2018:29659094}"	""	""	""	"Albania"	""	"0"	""	""	""	"?"
"00173885"	""	""	""	"1"	""	"02449"	"{PMID:McHenry 2004:15111602}"	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00173886"	""	""	""	"1"	""	"02449"	"{PMID:Xu 2014:24938718}"	""	""	""	"United States"	""	"0"	""	""	""	"RP282"
"00173887"	""	""	""	"1"	""	"02449"	"{PMID:Al-Khersan 2017:28462455}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier mother"	""	"no"	"United States"	""	"0"	""	""	""	"?"
"00173888"	""	""	""	"2"	""	"02449"	"{PMID:Coppieters 2014:24625443}"	"see paper"	""	"yes"	"Turkey"	""	"0"	""	""	""	"Fam16"
"00173889"	""	""	""	"1"	""	"02449"	"{PMID:Ebermann 2007:17301963 }"	""	""	""	"Morocco"	""	"0"	""	""	""	"?"
"00173890"	""	""	""	"1"	""	"02449"	"{PMID:O\'Sullivan 2012:22581970}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00173891"	""	""	""	"1"	""	"02449"	"{PMID:Tschernutter 2006:16714263}"	""	""	""	""	""	"0"	""	""	"Middle East"	"?"
"00173892"	""	""	""	"1"	""	"02449"	"{PMID:Wang 2014b:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"31"
"00173893"	""	""	""	"1"	""	"02449"	"{PMID:Coppieters 2012:22261762}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00173894"	""	""	""	"1"	""	"02449"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"13DG0999"
"00173895"	""	""	""	"1"	""	"02449"	"{PMID:Ge 2015:26667666}"	"simplex case"	""	""	"United States"	""	"0"	""	""	"America-N"	"5VR+W.92"
"00173896"	""	""	""	"1"	""	"02449"	"{PMID:Ellingford 2016:27208204}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"13005790"
"00173897"	""	""	""	"1"	""	"02449"	"{PMID:Ksantini 2012:22180149}"	""	""	""	"Morocco"	""	"0"	""	""	""	"?"
"00173898"	""	""	""	"1"	""	"02449"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-294-638"
"00173899"	""	""	""	"1"	""	"02449"	"{PMID:Eisenberger 2013:24265693}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"?"
"00173900"	""	""	""	"1"	""	"02449"	"{PMID:Siemiatkowska 2011:22128245}"	""	""	""	"Indonesia"	""	"0"	""	""	""	"?"
"00173901"	""	""	""	"1"	""	"02449"	"{PMID:Collin 2011:22128245}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"?"
"00173902"	""	""	""	"1"	""	"02449"	"{PMID:Tada 2006:16710167}"	""	""	""	"Japan"	""	"0"	""	""	""	"?"
"00173903"	""	""	""	"1"	""	"02449"	"{PMID:Li 2011:21602930}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00232326"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232327"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232328"	""	""	""	"229"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232329"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232330"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232331"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232332"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232333"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232334"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232335"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232336"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232337"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232338"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232339"	""	""	""	"424"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232340"	""	""	""	"7"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232341"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232342"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232343"	""	""	""	"424"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232344"	""	""	""	"5"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232345"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232346"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232347"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232348"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232349"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232350"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232351"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232352"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232353"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233641"	""	""	""	"16"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233642"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233643"	""	""	""	"61"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233644"	""	""	""	"61"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00234475"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00240448"	""	""	""	"1"	""	"03335"	""	""	"M"	""	"Mexico"	""	"0"	""	""	""	""
"00292231"	""	""	""	"101"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00301669"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00304683"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00307823"	""	""	""	"3"	""	"00006"	"{PMID:Al-Bdour 2020:32587456}"	"5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Jordan"	""	"0"	""	""	""	"Fam3"
"00308519"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308520"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308615"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00308639"	""	""	""	"6"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"6 homozygous patients"	""	""	"Norway"	""	"0"	""	""	""	""
"00309221"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309222"	""	""	""	"5"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"5 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00319821"	""	""	""	"1"	""	"00008"	"{PMID:Thompson 2002:11727200}"	""	"F"	""	""	""	"0"	""	""	""	""
"00319850"	""	""	""	"1"	""	"00008"	"{PMID:Thompson 2002:11727200}"	""	"M"	""	""	""	"0"	""	""	""	""
"00325420"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"1140"
"00328015"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001054"
"00328316"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"W000241"
"00331975"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat113"
"00331976"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat114"
"00332506"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2018:29068140}"	""	""	""	"Finland"	""	"0"	""	""	""	"Pat31"
"00332507"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2018:29068140}"	""	""	""	"Finland"	""	"0"	""	""	""	"Pat32"
"00333355"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat15"
"00333846"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"44"
"00333847"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"45"
"00334261"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"819"
"00334421"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"patient"	""	""	"China"	""	"0"	""	""	""	"RP-010"
"00335397"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP022"
"00358939"	""	""	""	"1"	""	"00006"	"{PMID:Sundaramurthy 2016:27383656}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"India"	""	"0"	""	""	""	"Fam03"
"00358952"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case71882"
"00359330"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27160483}"	"see paper"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3259"
"00368356"	""	""	""	"1"	""	"01695"	"{PMID:Xu 2014:24938718}"	"Younger brother affected as well"	"M"	"no"	"China"	""	"0"	""	""	"China"	"RP250"
"00372672"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP398"
"00372695"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP319"
"00372727"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP323"
"00372746"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP329"
"00373369"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373511"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2015:25611614}"	""	""	""	"China"	""	"0"	""	""	""	"RH19"
"00373808"	""	""	""	"1"	""	"00000"	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat5"
"00374909"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"F"	""	"China"	""	"0"	""	""	""	"F67-1"
"00375298"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6151"
"00375299"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"simplex case"	""	""	"Japan"	""	"0"	""	""	""	"K6488"
"00375433"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#028"
"00376750"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"10"
"00376760"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"22"
"00376763"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"25"
"00376794"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"61"
"00376797"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"64"
"00377189"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"261"
"00377211"	""	""	""	"2"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"307"
"00377212"	""	""	"00377211"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"brother"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"549"
"00377921"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377922"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"F"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377930"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377931"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"F"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377932"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"F"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377933"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00377934"	""	""	""	"1"	""	"00000"	"{PMID: Siemiatkowska 2011:22128245}"	""	"M"	"no"	"Indonesia"	""	"0"	""	""	"Indonesian"	""
"00379380"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00379381"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379569"	""	""	""	"1"	""	"00000"	"{PMID:O\'Sullivan-2012:22581970}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00379845"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016120508"
"00380130"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2018:30054919}"	""	""	"likely"	"Saudi Arabia"	""	"0"	""	""	""	"11DG0677"
"00380296"	""	""	""	"3"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00381600"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00381622"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"?"	""	""	"0"	""	""	""	""
"00381632"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00381637"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	""
"00381646"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"?"	"Saudi Arabia"	""	"0"	""	""	""	""
"00381961"	""	""	""	"1"	""	"00000"	"{PMID:Ravesh 2018:30416334}"	"FamilyD"	"M"	"yes"	""	""	"0"	""	""	""	"III:I"
"00382322"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"151"
"00382323"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"152"
"00382324"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"153"
"00382326"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"155"
"00382327"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"156"
"00382561"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"423"
"00382562"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"424"
"00383444"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383445"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383446"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383447"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383773"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18070929_A"
"00383841"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383913"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0236"
"00383916"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0311"
"00383975"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1236"
"00384068"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2086"
"00384211"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066882"
"00384320"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"13658"
"00384744"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00384762"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00384763"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00384764"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00384765"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00384766"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00385019"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19312"
"00385075"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67210"
"00385615"	""	""	""	"1"	""	"00000"	"{PMID:de Castro-Miró-2014:24516651}"	""	""	""	""	""	"0"	""	""	""	"17NCE"
"00385736"	""	""	""	"1"	""	"00000"	"{PMID:Dan 2020:31960602}"	""	"F"	"no"	"China"	""	"0"	""	""	""	"168"
"00386233"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-197, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-442"
"00386278"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-179"
"00386677"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-839"
"00386775"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2925_004510"
"00386779"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2930_004515"
"00387060"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"African American"	"86"
"00387061"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"87"
"00387392"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32100970}"	""	"M"	""	"China"	""	"0"	""	""	""	"12"
"00388472"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15000307"
"00388475"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15006709"
"00389206"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 162, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"490"
"00389355"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 228, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"639"
"00389430"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 267, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"714"
"00389431"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 267, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"715"
"00389475"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 293, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"759"
"00389566"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 350, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"850"
"00389939"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 964, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1223"
"00390303"	""	""	""	"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"	""	""	""	"G001054"
"00390304"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G012394"
"00390305"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000241"
"00391174"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"136"
"00391175"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"137"
"00391176"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"138"
"00391355"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"11"
"00391356"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"12"
"00391387"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"55"
"00391578"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"75"
"00393543"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393602"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393645"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393719"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393831"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394001"	""	""	""	"1"	""	"00000"	"{PMID:Salmaninejad-202:33173045}"	""	""	"yes"	""	""	"0"	""	""	"Iranian"	""
"00394608"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394609"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00394610"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394611"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00395784"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F285"
"00395809"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F070"
"00396409"	""	""	""	"1"	""	"00006"	"{PMID:Ellingford 2016:26872967}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"065240"
"00399735"	""	""	""	"3"	""	"00000"	"{PMID:Brea-Fernández 2008:18815424}"	""	"F;M"	"yes"	"Spain"	""	"0"	""	""	""	"II.2, II.3, II.14"
"00399736"	""	""	""	"4"	""	"00000"	"{PMID:Brea-Fernández 2008:18815424}"	"Healthy carriers"	"F;M"	"yes"	"Spain"	""	"0"	""	""	""	"II.5, II.9, II.12, II.15"
"00399773"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	"Carrier mother of II"	""	"yes"	""	""	"0"	""	""	"Moroccan"	"I-1"
"00399774"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	"Carrier father of II"	""	"yes"	""	""	"0"	""	""	"Moroccan"	"I-2"
"00399775"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	""	""	"yes"	""	""	"0"	""	""	"Moroccan"	"II-1"
"00399776"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	""	""	"yes"	""	""	"0"	""	""	"Moroccan"	"II-3"
"00399777"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	"visual acuity for the last 3 years"	""	"yes"	""	""	"0"	""	""	"Moroccan"	"II-4"
"00399778"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	""	""	"yes"	""	""	"0"	""	""	"Moroccan"	"II-5"
"00399779"	""	""	""	"1"	""	"00000"	"{PMID:Charbel Issa 2009:19403518}"	"reported deteriorating visual acuity in recent years as well as poor orientation in the dark"	""	"yes"	""	""	"0"	""	""	"Moroccan"	"II-6"
"00399780"	""	""	""	"1"	""	"00000"	"{PMID:Jonsson 2018:30416333}"	"novel heterozygous variant in the MER proto-oncogene, tyrosine kinase"	"F"	""	""	""	"0"	""	""	"Sweden"	"RP115"
"00399781"	""	""	""	"1"	""	"00000"	"{PMID:Jonsson 2018:30416333}"	"novel heterozygous variant in the MER proto-oncogene, tyrosine kinase"	"M"	""	""	""	"0"	""	""	"Sweden"	"RP116"
"00399782"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2018:30790467}"	"novel"	"M"	"no"	""	""	"0"	""	""	"Chinese"	""
"00399783"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2018:30790467}"	"novel"	"M"	"no"	""	""	"0"	""	""	"Chinese"	""
"00399784"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2018:30790467}"	"novel"	"M"	"no"	""	""	"0"	""	""	"Chinese"	""
"00399785"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	"Carrier father of IV"	"M"	"yes"	""	""	"0"	""	""	"India"	"III:3"
"00399786"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	"Carrier mother of IV"	"F"	"yes"	""	""	"0"	""	""	"India"	"III:4"
"00399787"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	""	"M"	"yes"	""	""	"0"	""	""	"India"	"III:5"
"00399788"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	""	"F"	"yes"	""	""	"0"	""	""	"India"	"IV:1"
"00399789"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	""	"M"	"yes"	""	""	"0"	""	""	"India"	"IV:2"
"00399790"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	""	"M"	"yes"	""	""	"0"	""	""	"India"	"IV:7"
"00399791"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	""	"F"	"yes"	""	""	"0"	""	""	"India"	"IV:8"
"00399792"	""	""	""	"1"	""	"00000"	"{PMID:Bhatia 2019:30851773}"	"Carrier"	"F"	"yes"	""	""	"0"	""	""	"India"	"IV:3"
"00404112"	""	""	""	"2"	""	"00006"	"{PMID:Aldahmesh 2009:19956407}"	"2-generation family, 2 affected brothers"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"DGU-F16"
"00420437"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F070"
"00420573"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F285"
"00429531"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429579"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429703"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429849"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429867"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429871"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429891"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429913"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429915"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429933"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429955"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429996"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430044"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430105"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430123"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430141"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00441661"	""	""	""	"1"	""	"04542"	"{PMID:de Bruijn 2023:36524988}"	""	""	""	""	""	"0"	""	""	""	"DNA12-10730"
"00447002"	""	""	""	"3"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-457"
"00447011"	""	""	""	"3"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-477"
"00447264"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1106"
"00447295"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1196"
"00447310"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1227"
"00447333"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"STGD-100"
"00447581"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-34"
"00451549"	""	""	""	"6"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"5-generation family, 6 affected (2F, 4M)"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamGPatIV2"
"00451550"	""	""	"00451549"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"brother"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamGPatIV3"
"00451551"	""	""	"00451549"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"brother"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamGPatIV4"
"00451552"	""	""	"00451549"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"sister"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamGPatIV6"
"00451554"	""	""	"00451549"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"relative"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamGPatV4"
"00459003"	""	""	""	"1"	""	"00006"	"{PMID:Wen 2023:36811936}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"United States"	""	"0"	""	""	""	"FBP_106"
"00469105"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469106"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469987"	""	""	""	"4"	""	"00006"	"{PMID:Rashid 2020:32976546}"	"5-generation family, 4 affected (F, 3M)"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"GCUF02"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 314
"{{individualid}}"	"{{diseaseid}}"
"00001795"	"00112"
"00001796"	"00112"
"00088063"	"04214"
"00100097"	"04214"
"00105035"	"04214"
"00144249"	"04214"
"00155496"	"04214"
"00173823"	"04214"
"00173824"	"00058"
"00173825"	"00381"
"00173826"	"04214"
"00173827"	"04214"
"00173828"	"04214"
"00173829"	"04214"
"00173830"	"00058"
"00173831"	"04214"
"00173832"	"04214"
"00173833"	"04214"
"00173834"	"04214"
"00173835"	"04214"
"00173836"	"04214"
"00173837"	"00381"
"00173838"	"04214"
"00173840"	"04214"
"00173841"	"04214"
"00173842"	"04214"
"00173843"	"04214"
"00173845"	"00058"
"00173846"	"04214"
"00173847"	"00198"
"00173848"	"04210"
"00173849"	"00058"
"00173850"	"04214"
"00173851"	"04214"
"00173852"	"04214"
"00173853"	"04214"
"00173854"	"04214"
"00173855"	"04214"
"00173856"	"04214"
"00173857"	"04214"
"00173858"	"04214"
"00173859"	"00381"
"00173860"	"04214"
"00173861"	"04214"
"00173863"	"04214"
"00173864"	"04214"
"00173865"	"04214"
"00173866"	"04214"
"00173867"	"04214"
"00173868"	"04214"
"00173869"	"04214"
"00173870"	"04214"
"00173871"	"04214"
"00173872"	"04214"
"00173873"	"04210"
"00173874"	"04214"
"00173875"	"04214"
"00173876"	"04214"
"00173877"	"04210"
"00173878"	"04214"
"00173879"	"04214"
"00173880"	"04214"
"00173881"	"04214"
"00173882"	"04214"
"00173883"	"04214"
"00173884"	"04214"
"00173885"	"00058"
"00173886"	"04214"
"00173887"	"00058"
"00173888"	"04214"
"00173889"	"00058"
"00173890"	"04214"
"00173891"	"04214"
"00173892"	"00058"
"00173893"	"04210"
"00173894"	"04214"
"00173895"	"04214"
"00173896"	"04214"
"00173897"	"04214"
"00173898"	"00058"
"00173899"	"04210"
"00173900"	"04214"
"00173901"	"04214"
"00173902"	"04214"
"00173903"	"04210"
"00232326"	"04214"
"00232327"	"04214"
"00232328"	"04214"
"00232329"	"04214"
"00232330"	"04214"
"00232331"	"04214"
"00232332"	"04214"
"00232333"	"04214"
"00232334"	"04214"
"00232335"	"04214"
"00232336"	"04214"
"00232337"	"04214"
"00232338"	"04214"
"00232339"	"04214"
"00232340"	"04214"
"00232341"	"04214"
"00232342"	"04214"
"00232343"	"04214"
"00232344"	"04214"
"00232345"	"04214"
"00232346"	"04214"
"00232347"	"04214"
"00232348"	"04214"
"00232349"	"04214"
"00232350"	"04214"
"00232351"	"04214"
"00232352"	"04214"
"00232353"	"04214"
"00233641"	"04214"
"00233642"	"04214"
"00233643"	"04214"
"00233644"	"04214"
"00234475"	"00198"
"00240448"	"00381"
"00292231"	"00198"
"00301669"	"00198"
"00304683"	"00198"
"00307823"	"00198"
"00307823"	"04214"
"00308519"	"04214"
"00308520"	"04214"
"00308615"	"04214"
"00308639"	"04214"
"00309221"	"04214"
"00309222"	"04214"
"00319821"	"04214"
"00319850"	"04214"
"00325420"	"04214"
"00328015"	"04214"
"00328316"	"04214"
"00331975"	"04214"
"00331976"	"04214"
"00332506"	"04214"
"00332507"	"04214"
"00333355"	"04214"
"00333846"	"04214"
"00333847"	"04214"
"00334261"	"04214"
"00334421"	"04214"
"00335397"	"04214"
"00358939"	"04214"
"00358952"	"04214"
"00359330"	"04214"
"00368356"	"04214"
"00372672"	"04214"
"00372695"	"04214"
"00372727"	"04214"
"00372746"	"04214"
"00373369"	"04214"
"00373511"	"04214"
"00373808"	"04214"
"00374909"	"04214"
"00375298"	"04214"
"00375299"	"04214"
"00375433"	"04214"
"00376750"	"04214"
"00376760"	"04214"
"00376763"	"04214"
"00376794"	"04214"
"00376797"	"04214"
"00377189"	"04214"
"00377211"	"04214"
"00377212"	"04214"
"00377921"	"04214"
"00377922"	"04214"
"00377930"	"04214"
"00377931"	"04214"
"00377932"	"04214"
"00377933"	"04214"
"00377934"	"04214"
"00379380"	"04214"
"00379381"	"04214"
"00379569"	"04214"
"00379845"	"04214"
"00380130"	"04214"
"00380296"	"04214"
"00381600"	"04214"
"00381622"	"04214"
"00381632"	"04214"
"00381637"	"04214"
"00381646"	"04214"
"00381961"	"04214"
"00382322"	"04214"
"00382323"	"04214"
"00382324"	"04214"
"00382326"	"04214"
"00382327"	"04214"
"00382561"	"04214"
"00382562"	"04214"
"00383444"	"04214"
"00383445"	"04214"
"00383446"	"04214"
"00383447"	"04214"
"00383773"	"04214"
"00383841"	"04214"
"00383913"	"04214"
"00383916"	"04214"
"00383975"	"04214"
"00384068"	"04214"
"00384211"	"04214"
"00384320"	"04214"
"00384744"	"04214"
"00384762"	"04214"
"00384763"	"04214"
"00384764"	"04214"
"00384765"	"04214"
"00384766"	"04214"
"00385019"	"04214"
"00385075"	"04214"
"00385615"	"04214"
"00385736"	"04214"
"00386233"	"04214"
"00386278"	"04214"
"00386677"	"04214"
"00386775"	"04214"
"00386779"	"04214"
"00387060"	"04214"
"00387061"	"04214"
"00387392"	"04214"
"00388472"	"04214"
"00388475"	"04214"
"00389206"	"04214"
"00389355"	"04214"
"00389430"	"04214"
"00389431"	"04214"
"00389475"	"04214"
"00389566"	"04214"
"00389939"	"04214"
"00390303"	"04214"
"00390304"	"04214"
"00390305"	"04214"
"00391174"	"04214"
"00391175"	"04214"
"00391176"	"04214"
"00391355"	"04214"
"00391356"	"04214"
"00391387"	"04214"
"00391578"	"04214"
"00393543"	"04214"
"00393602"	"04214"
"00393645"	"04214"
"00393719"	"04214"
"00393831"	"04214"
"00394001"	"04214"
"00394608"	"04214"
"00394609"	"04214"
"00394610"	"04214"
"00394611"	"04214"
"00395784"	"04214"
"00395809"	"04214"
"00396409"	"04214"
"00399735"	"04214"
"00399736"	"00000"
"00399773"	"04214"
"00399774"	"04214"
"00399775"	"04214"
"00399776"	"04214"
"00399777"	"04214"
"00399778"	"04214"
"00399779"	"04214"
"00399780"	"04214"
"00399781"	"04214"
"00399782"	"04214"
"00399783"	"04214"
"00399784"	"04214"
"00399785"	"04214"
"00399786"	"04214"
"00399787"	"04214"
"00399788"	"04214"
"00399789"	"04214"
"00399790"	"04214"
"00399791"	"04214"
"00399792"	"04214"
"00404112"	"04214"
"00420437"	"04214"
"00420573"	"04214"
"00429531"	"00112"
"00429579"	"00112"
"00429703"	"00112"
"00429849"	"00112"
"00429867"	"00112"
"00429871"	"04210"
"00429891"	"00112"
"00429913"	"00112"
"00429915"	"04214"
"00429933"	"00112"
"00429955"	"00112"
"00429996"	"00112"
"00430044"	"00112"
"00430105"	"04210"
"00430123"	"00112"
"00430141"	"00112"
"00441661"	"00112"
"00447002"	"00198"
"00447011"	"00198"
"00447264"	"00198"
"00447295"	"00198"
"00447310"	"00198"
"00447333"	"00198"
"00447581"	"00198"
"00451549"	"00198"
"00451550"	"00198"
"00451551"	"00198"
"00451552"	"00198"
"00451554"	"00198"
"00459003"	"00112"
"00469105"	"00198"
"00469106"	"00198"
"00469987"	"00112"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 00381, 03472, 04210, 04214
## Count = 275
"{{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}}"
"0000067570"	"04214"	"00088063"	"00243"	"Familial, autosomal recessive"	""	""	"16y"	"22y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000082926"	"04214"	"00105035"	"01244"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000117027"	"04214"	"00144249"	"01780"	"Isolated (sporadic)"	""	""	"52y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127996"	"04214"	"00155496"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000138676"	"04214"	"00173823"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138677"	"00058"	"00173824"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138678"	"00381"	"00173825"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset retina dystrophy"	""
"0000138679"	"04214"	"00173826"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138680"	"04214"	"00173827"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138681"	"04214"	"00173828"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138682"	"04214"	"00173829"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138683"	"00058"	"00173830"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138684"	"04214"	"00173831"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138685"	"04214"	"00173832"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138686"	"04214"	"00173833"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138687"	"04214"	"00173834"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138688"	"04214"	"00173835"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138689"	"04214"	"00173836"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138690"	"00381"	"00173837"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset retina dystrophy"	""
"0000138691"	"04214"	"00173838"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138693"	"04214"	"00173840"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138694"	"04214"	"00173841"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138695"	"04214"	"00173842"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138696"	"04214"	"00173843"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138698"	"00058"	"00173845"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138699"	"04214"	"00173846"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138700"	"00198"	"00173847"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"inherited retinal disease not specified"	""
"0000138701"	"04210"	"00173848"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000138702"	"00058"	"00173849"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138703"	"04214"	"00173850"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138704"	"04214"	"00173851"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138705"	"04214"	"00173852"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138706"	"04214"	"00173853"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138707"	"04214"	"00173854"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138708"	"04214"	"00173855"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138709"	"04214"	"00173856"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138710"	"04214"	"00173857"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138711"	"04214"	"00173858"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138712"	"00381"	"00173859"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset retina dystrophy"	""
"0000138713"	"04214"	"00173860"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138714"	"04214"	"00173861"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138716"	"04214"	"00173863"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138717"	"04214"	"00173864"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138718"	"04214"	"00173865"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138719"	"04214"	"00173866"	"02449"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP3"	"retinitis pigmentosa"	""
"0000138720"	"04214"	"00173867"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138721"	"04214"	"00173868"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138722"	"04214"	"00173869"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138723"	"04214"	"00173870"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138724"	"04214"	"00173871"	"02449"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity 0.3/0.4"	"20y"	""	""	""	""	""	""	""	"RP38"	"retinitis pigmentosa"	""
"0000138725"	"04214"	"00173872"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138726"	"04210"	"00173873"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000138727"	"04214"	"00173874"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138728"	"04214"	"00173875"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138729"	"04214"	"00173876"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138730"	"04210"	"00173877"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000138731"	"04214"	"00173878"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138732"	"04214"	"00173879"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138733"	"04214"	"00173880"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138734"	"04214"	"00173881"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138735"	"04214"	"00173882"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138736"	"04214"	"00173883"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138737"	"04214"	"00173884"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"rod-cone dystrophy"	""
"0000138738"	"00058"	"00173885"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138739"	"04214"	"00173886"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138740"	"00058"	"00173887"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138741"	"04214"	"00173888"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138742"	"00058"	"00173889"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138743"	"04214"	"00173890"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138744"	"04214"	"00173891"	"02449"	"Familial, autosomal recessive"	""	"RCD with early onset macular involvement"	""	""	""	""	""	""	""	""	"RP-38"	"RCD with early onset macular involvement"	""
"0000138745"	"00058"	"00173892"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138746"	"04210"	"00173893"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000138747"	"04214"	"00173894"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138748"	"04214"	"00173895"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138749"	"04214"	"00173896"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138750"	"04214"	"00173897"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138751"	"00058"	"00173898"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"conr-rod dystrophy"	""
"0000138752"	"04210"	"00173899"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000138753"	"04214"	"00173900"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138754"	"04214"	"00173901"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138755"	"04214"	"00173902"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa/rod-cone dystrophy"	""
"0000138756"	"04210"	"00173903"	"02449"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000138757"	"00112"	"00001795"	"01285"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000138758"	"00112"	"00001796"	"01285"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000174885"	"00198"	"00234475"	"01807"	"Unknown"	""	"HP:0000510 (Rod-cone dystrophy)"	""	""	""	""	""	""	""	""	""	""	""
"0000228770"	"00198"	"00301669"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	""	""
"0000233263"	"04214"	"00307823"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RP1"	"retinitis pigmentosa"	""
"0000233947"	"04214"	"00308519"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233948"	"04214"	"00308520"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234043"	"04214"	"00308615"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234067"	"04214"	"00308639"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234541"	"04214"	"00309221"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234542"	"04214"	"00309222"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000241925"	"04214"	"00319821"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000241954"	"04214"	"00319850"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000243907"	"04214"	"00325420"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246242"	"04214"	"00328015"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246543"	"04214"	"00328316"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250166"	"04214"	"00331975"	"00000"	"Familial, autosomal dominant"	"39y"	"photophobia; scotopic ERG normalreduced; photopic ERG borderline"	"36y"	""	"photophobia"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250167"	"04214"	"00331976"	"00000"	"Familial, autosomal recessive"	"17y"	"reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished"	""	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250690"	"04214"	"00332506"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250691"	"04214"	"00332507"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251542"	"04214"	"00333355"	"00000"	"Familial, autosomal dominant"	"53y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252031"	"04214"	"00333846"	"00000"	"Familial, autosomal recessive"	"26y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252032"	"04214"	"00333847"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252446"	"04214"	"00334261"	"00000"	"Familial, autosomal recessive"	"41y"	"clinical category IIA"	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000252510"	"04214"	"00334421"	"00000"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253343"	"04214"	"00335397"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254238"	"04214"	"00358939"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254250"	"04214"	"00358952"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000254626"	"04214"	"00359330"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000263694"	"04214"	"00368356"	"01695"	"Unknown"	""	"At the age of 19, the visual acuity was 0.04/0.03 (OD/OS). The fundus showed: attenuated retinal arteries;macular degeneration. ERG response of the rods was: Extinguished and of the cones was Severe."	"12y"	""	"poor vision"	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267951"	"04214"	"00372672"	"00000"	"Familial, autosomal recessive"	"23y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267974"	"04214"	"00372695"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268006"	"04214"	"00372727"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268025"	"04214"	"00372746"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268645"	"04214"	"00373369"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268787"	"04214"	"00373511"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, macula degeneration"	""
"0000269017"	"04214"	"00373808"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270119"	"04214"	"00374909"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity fingers count/fingers count"	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270512"	"04214"	"00375298"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270513"	"04214"	"00375299"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270647"	"04214"	"00375433"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271961"	"04214"	"00376750"	"00000"	"Familial, autosomal recessive"	"26y"	""	""	""	""	""	""	""	""	""	""	"Decreased vision, field loss, night vision blindness"	""
"0000271971"	"04214"	"00376760"	"00000"	"Familial, autosomal recessive"	"45y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271974"	"04214"	"00376763"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272005"	"04214"	"00376794"	"00000"	"Unknown"	"55y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272008"	"04214"	"00376797"	"00000"	"Unknown"	"24y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272347"	"04214"	"00377189"	"00000"	"Isolated (sporadic)"	"18y"	"see paper"	"7y"	"8y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272369"	"04214"	"00377211"	"00000"	"Familial, autosomal recessive"	"16y"	"see paper"	"11y"	"12y"	""	""	""	""	""	""	"retinitis pigmentosa, type 38 (RP38)"	"retinal disease"	""
"0000272370"	"04214"	"00377212"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"retinitis pigmentosa, type 38 (RP38)"	"retinal disease"	""
"0000273067"	"04214"	"00377921"	"00000"	"Familial, autosomal recessive"	"30y"	""	"17y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273068"	"04214"	"00377922"	"00000"	"Familial, autosomal recessive"	"32y"	""	"18y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273076"	"04214"	"00377930"	"00000"	"Familial, autosomal recessive"	"55y"	""	"11y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273077"	"04214"	"00377931"	"00000"	"Familial, autosomal recessive"	"37y"	""	"11y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273078"	"04214"	"00377932"	"00000"	"Familial, autosomal recessive"	"35y"	""	"12y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273079"	"04214"	"00377933"	"00000"	"Familial, autosomal recessive"	"48y"	""	"13y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273080"	"04214"	"00377934"	"00000"	"Familial, autosomal recessive"	"39y"	""	"12y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273253"	"04214"	"00379380"	"00000"	"Unknown"	"26y"	""	"13y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273254"	"04214"	"00379381"	"00000"	"Unknown"	"46y"	""	"16y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273699"	"04214"	"00379845"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273985"	"04214"	"00380130"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274147"	"04214"	"00380296"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000275442"	"04214"	"00381600"	"00000"	"Familial, X-linked recessive"	""	""	"19y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275464"	"04214"	"00381622"	"00000"	"Isolated (sporadic)"	""	""	"36y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275474"	"04214"	"00381632"	"00000"	"Familial, autosomal recessive"	""	""	"16y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275479"	"04214"	"00381637"	"00000"	"Isolated (sporadic)"	""	""	"30y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275488"	"04214"	"00381646"	"00000"	"Familial, autosomal recessive"	""	""	"1y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275803"	"04214"	"00381961"	"00000"	"Familial, autosomal recessive"	"33y"	""	"8y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276171"	"04214"	"00382322"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276172"	"04214"	"00382323"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276173"	"04214"	"00382324"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276175"	"04214"	"00382326"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276176"	"04214"	"00382327"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276410"	"04214"	"00382561"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Generalized retinal dystrophy (non-syndromic)"	""
"0000276411"	"04214"	"00382562"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277229"	"04214"	"00383444"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Rod-cone dystrophy"	""
"0000277230"	"04214"	"00383445"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Rod-cone dystrophy"	""
"0000277231"	"04214"	"00383446"	"00000"	"Familial, autosomal recessive"	""	""	"7y"	""	""	""	""	""	""	""	""	"Rod-cone dystrophy"	""
"0000277232"	"04214"	"00383447"	"00000"	"Familial, autosomal recessive"	""	""	"12y"	""	""	""	""	""	""	""	""	"Rod-cone dystrophy"	""
"0000277558"	"04214"	"00383773"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277626"	"04214"	"00383841"	"00000"	"Familial, autosomal recessive"	"26y"	"BCVA OD-OS: CF-hand movement"	""	"19y"	""	""	""	""	""	""	""	""	""
"0000277698"	"04214"	"00383913"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277701"	"04214"	"00383916"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277760"	"04214"	"00383975"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277853"	"04214"	"00384068"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277996"	"04214"	"00384211"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278105"	"04214"	"00384320"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000278527"	"04214"	"00384744"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278545"	"04214"	"00384762"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278546"	"04214"	"00384763"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278547"	"04214"	"00384764"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278548"	"04214"	"00384765"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278549"	"04214"	"00384766"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278803"	"04214"	"00385019"	"00000"	"Isolated (sporadic)"	"22y"	"nyctalopia, no nystagmus, best corrected visual acuity right/left eye: FC/FC"	"3y"	""	""	""	""	""	""	""	"early onset severe retinal dystrophy"	"early onset severe retinal dystrophy"	""
"0000278859"	"04214"	"00385075"	"00000"	"Isolated (sporadic)"	"6m"	"nystagmus, best corrected visual acuity right/left eye: NA"	"1m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000279410"	"04214"	"00385615"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000279549"	"04214"	"00385736"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000280036"	"04214"	"00386233"	"00000"	"Familial, autosomal recessive"	"32y"	""	""	"12y"	""	""	""	""	""	""	"early onset retinitis pigmentosa"	""	""
"0000280081"	"04214"	"00386278"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280477"	"04214"	"00386677"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280575"	"04214"	"00386775"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280579"	"04214"	"00386779"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280838"	"04214"	"00387060"	"00000"	"Familial, autosomal recessive"	"22y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280839"	"04214"	"00387061"	"00000"	"Familial, autosomal recessive"	"12y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280955"	"04214"	"00387392"	"00000"	"Familial, autosomal recessive"	"72y"	"anterior subcapsular cataract, posterior pole  choroidal atrophy, negative family history, BCVA OD/OS: HM/HM"	"7y"	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000282024"	"04214"	"00388472"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"severe rod-cone dystrophy or retinitis pigmentosa"	""
"0000282027"	"04214"	"00388475"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"severe rod-cone dystrophy or retinitis pigmentosa"	""
"0000282747"	"04214"	"00389206"	"00000"	"Isolated (sporadic)"	"55y"	"age at genetic diagnosis mentioned"	""	"50y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000282896"	"04214"	"00389355"	"00000"	"Familial, autosomal recessive"	"72y"	"age at genetic diagnosis mentioned"	""	"66y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282971"	"04214"	"00389430"	"00000"	"Familial, autosomal recessive"	"28y"	"age at genetic diagnosis mentioned"	""	"23y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282972"	"04214"	"00389431"	"00000"	"Familial, autosomal recessive"	"22y"	"age at genetic diagnosis mentioned"	""	"18y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283016"	"04214"	"00389475"	"00000"	"Familial, autosomal recessive"	"21y"	"age at genetic diagnosis mentioned"	""	"19y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283107"	"04214"	"00389566"	"00000"	"Isolated (sporadic)"	"23y"	"age at genetic diagnosis mentioned"	""	"18y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283480"	"04214"	"00389939"	"00000"	"Isolated (sporadic)"	"52y"	"age at genetic diagnosis mentioned"	""	"51y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283841"	"04214"	"00390303"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283842"	"04214"	"00390304"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283843"	"04214"	"00390305"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284616"	"04214"	"00391174"	"00000"	"Unknown"	"19y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284617"	"04214"	"00391175"	"00000"	"Unknown"	"25y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284618"	"04214"	"00391176"	"00000"	"Unknown"	"28y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284795"	"04214"	"00391355"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa 38 (613862)"	"Retinitis pigmentosa 38 (613862)"	""
"0000284796"	"04214"	"00391356"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa 38 (613862)"	"Retinitis pigmentosa 38 (613862)"	""
"0000284827"	"04214"	"00391387"	"00000"	"Unknown"	""	"diagnosis unsure"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa 38 (613862)"	"Retinitis pigmentosa 38 (613862)"	""
"0000284914"	"04214"	"00391578"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	""
"0000286749"	"04214"	"00393543"	"00000"	"Isolated (sporadic)"	"28y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286808"	"04214"	"00393602"	"00000"	"Isolated (sporadic)"	"24y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286851"	"04214"	"00393645"	"00000"	"Isolated (sporadic)"	"17y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000286925"	"04214"	"00393719"	"00000"	"Isolated (sporadic)"	"25y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000287037"	"04214"	"00393831"	"00000"	"Isolated (sporadic)"	"25y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000287207"	"04214"	"00394001"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Inherited Retinal Dystrophies"	""
"0000287811"	"04214"	"00394608"	"00000"	"Familial, autosomal recessive"	"58y"	""	"6y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287812"	"04214"	"00394609"	"00000"	"Familial, autosomal recessive"	"24y"	""	"8y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287813"	"04214"	"00394610"	"00000"	"Familial, autosomal recessive"	"28y"	""	"12y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287814"	"04214"	"00394611"	"00000"	"Familial, autosomal recessive"	"18y"	""	"6y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000288946"	"04214"	"00395784"	"00000"	"Unknown"	"48y8m"	""	"19y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000288971"	"04214"	"00395809"	"00000"	"Unknown"	"26y1m"	""	"15y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289571"	"04214"	"00396409"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000292837"	"04214"	"00399735"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000292873"	"04214"	"00399773"	"00000"	"Familial, autosomal recessive"	"46y"	""	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292874"	"04214"	"00399774"	"00000"	"Familial, autosomal recessive"	"37y"	""	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292875"	"04214"	"00399775"	"00000"	"Familial, autosomal recessive"	"5y"	""	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292876"	"04214"	"00399776"	"00000"	"Familial, autosomal recessive"	"9y"	""	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292877"	"04214"	"00399777"	"00000"	"Familial, autosomal recessive"	"16y"	"yellowish macular atrophy"	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292878"	"04214"	"00399778"	"00000"	"Familial, autosomal recessive"	"18y"	"yellowish macular atrophy"	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292879"	"04214"	"00399779"	"00000"	"Familial, autosomal recessive"	"19y"	"yellowish macular atrophy"	""	""	"poor vision and night blindness in childhood"	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292880"	"04214"	"00399780"	"00000"	"Familial, autosomal recessive"	"81y"	""	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292881"	"04214"	"00399781"	"00000"	"Familial, autosomal recessive"	"78y"	""	"8y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292882"	"04214"	"00399782"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292883"	"04214"	"00399783"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292884"	"04214"	"00399784"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292885"	"04214"	"00399785"	"00000"	"Familial, autosomal recessive"	"47y"	"Dark-adapted and light-adapted ERG suggestive of extinguished rod and cone responses in the right eye and diminished responses in the left eye.It indicated mild form of rod-cone dystrophy,hence assigning him as disease carrier."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292886"	"04214"	"00399786"	"00000"	"Familial, autosomal recessive"	"42y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292887"	"04214"	"00399787"	"00000"	"Familial, autosomal recessive"	"52y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000292888"	"04214"	"00399788"	"00000"	"Familial, autosomal recessive"	"18y"	"attenuated retinal bloodvessels and diffuse  temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex"	""	""	""	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292889"	"04214"	"00399789"	"00000"	"Familial, autosomal recessive"	"17y"	"?6.5D (OD); ?8.0D (OS), Optic nerve head of normal shape and size,retinal vessels markedly attenuated, pale optic disc. Affected by RP"	""	""	""	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292890"	"04214"	"00399790"	"00000"	"Familial, autosomal recessive"	"8y"	"?4.5D (OD); ?4.5D (OS), Optic nerve head OU of normal, shape and size with mild temporal pallor. Mild attenuation of arteries. Dull foveal reflex.Affected by RP"	""	""	""	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292891"	"04214"	"00399791"	"00000"	"Familial, autosomal recessive"	"8y"	"?4.5D (OD); ?4.5D (OS), attenuated retinal bloodvessels and diffuse  temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex"	""	""	""	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000292892"	"04214"	"00399792"	"00000"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	""	"rod cone dystrophy (arRCD)"	""
"0000296701"	"04214"	"00404112"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000311685"	"04214"	"00420437"	"00000"	"Familial, autosomal recessive"	"26y1m"	""	"15y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311821"	"04214"	"00420573"	"00000"	"Familial, autosomal recessive"	"48y8m"	""	"19y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000320403"	"00112"	"00429531"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320451"	"00112"	"00429579"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320575"	"00112"	"00429703"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320721"	"00112"	"00429849"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320739"	"00112"	"00429867"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320743"	"04210"	"00429871"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320763"	"00112"	"00429891"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320785"	"00112"	"00429913"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320787"	"04214"	"00429915"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320805"	"00112"	"00429933"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320827"	"00112"	"00429955"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320868"	"00112"	"00429996"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320916"	"00112"	"00430044"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320977"	"04210"	"00430105"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320995"	"00112"	"00430123"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321013"	"00112"	"00430141"	"04436"	"Paternal, Y-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000331076"	"00112"	"00441661"	"04542"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336201"	"00198"	"00447002"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336210"	"00198"	"00447011"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336463"	"00198"	"00447264"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336494"	"00198"	"00447295"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336509"	"00198"	"00447310"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336532"	"00198"	"00447333"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000336780"	"00198"	"00447581"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000340224"	"00198"	"00451549"	"04543"	"Familial, autosomal recessive"	"55y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia"	"2y"	""	""	""	""	""	""	""	"RP14"	"retinitis pigmentosa"	""
"0000340225"	"00198"	"00451550"	"04543"	"Familial, autosomal recessive"	"46y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia"	"2y"	""	""	""	""	""	""	""	"RP14"	"retinitis pigmentosa"	""
"0000340226"	"00198"	"00451551"	"04543"	"Familial, autosomal recessive"	"42y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia"	"2y"	""	""	""	""	""	""	""	"RP14"	"retinitis pigmentosa"	""
"0000340227"	"00198"	"00451552"	"04543"	"Familial, autosomal recessive"	"51y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia"	"2y"	""	""	""	""	""	""	""	"RP14"	"retinitis pigmentosa"	""
"0000340229"	"00198"	"00451554"	"04543"	"Familial, autosomal recessive"	"24y"	"no night vision; day vision 20/80; normal color vision; no nystagmus; no corneal haze; no photophobia"	"2y"	""	""	""	""	""	""	""	"RP14"	"retinitis pigmentosa"	""
"0000347433"	"00112"	"00459003"	"00006"	"Familial, autosomal recessive"	"28y"	"see paper; ..., retinitis pigmentosa; bilateral myopia (-14.0), best-corrected visual acuity was 20/20; retinal vessels, pigmentation periphery, temporal pallor optic discs, flat ERGresponses"	""	""	""	""	""	""	""	""	"RP38"	"retinitis pigmentosa"	""
"0000354258"	"00198"	"00469105"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the eye"	""
"0000354259"	"00198"	"00469106"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the eye"	""
"0000355132"	"00112"	"00469987"	"00006"	"Familial, autosomal recessive"	""	"see paper; ...,"	""	""	""	""	""	""	""	""	"RP38"	"retinitis pigmentosa"	""


## Screenings ## Do not remove or alter this header ##
## Count = 313
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001598"	"00001795"	"1"	"00102"	"00102"	"2013-08-08 19:20:12"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000001599"	"00001796"	"1"	"00102"	"00102"	"2013-08-08 19:22:53"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000088203"	"00088063"	"1"	"00243"	"00243"	"2014-01-25 11:27:51"	"00006"	"2014-06-20 20:57:07"	"SEQ"	"DNA"	""	""
"0000100500"	"00100097"	"1"	"01769"	"01769"	"2017-01-30 18:45:16"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000105508"	"00105035"	"1"	"01244"	"01244"	"2017-06-15 16:26:48"	""	""	"SEQ-NG-I"	"DNA"	"Whole blood"	""
"0000145108"	"00144249"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000156361"	"00155496"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000174713"	"00173823"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174714"	"00173824"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174715"	"00173825"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174716"	"00173826"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174717"	"00173827"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174718"	"00173828"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174719"	"00173829"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174720"	"00173830"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174721"	"00173831"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174722"	"00173832"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174723"	"00173833"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174724"	"00173834"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174725"	"00173835"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174726"	"00173836"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174727"	"00173837"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174728"	"00173838"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174730"	"00173840"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174731"	"00173841"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174732"	"00173842"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174733"	"00173843"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174735"	"00173845"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174736"	"00173846"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174737"	"00173847"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174738"	"00173848"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174739"	"00173849"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174740"	"00173850"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174741"	"00173851"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174742"	"00173852"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174743"	"00173853"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174744"	"00173854"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174745"	"00173855"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174746"	"00173856"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174747"	"00173857"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174748"	"00173858"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174749"	"00173859"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174750"	"00173860"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174751"	"00173861"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174753"	"00173863"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174754"	"00173864"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174755"	"00173865"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174756"	"00173866"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174757"	"00173867"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174758"	"00173868"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174759"	"00173869"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174760"	"00173870"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174761"	"00173871"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174762"	"00173872"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174763"	"00173873"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174764"	"00173874"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174765"	"00173875"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174766"	"00173876"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174767"	"00173877"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174768"	"00173878"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174769"	"00173879"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	"00006"	"2021-03-04 14:03:21"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"212-gene panel"
"0000174770"	"00173880"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174771"	"00173881"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174772"	"00173882"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174773"	"00173883"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174774"	"00173884"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174775"	"00173885"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174776"	"00173886"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174777"	"00173887"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174778"	"00173888"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174779"	"00173889"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174780"	"00173890"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174781"	"00173891"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174782"	"00173892"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174783"	"00173893"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174784"	"00173894"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174785"	"00173895"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174786"	"00173896"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174787"	"00173897"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174788"	"00173898"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174789"	"00173899"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174790"	"00173900"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174791"	"00173901"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174792"	"00173902"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000174793"	"00173903"	"1"	"02449"	"02449"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000233425"	"00232326"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233426"	"00232327"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233427"	"00232328"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233428"	"00232329"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233429"	"00232330"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233430"	"00232331"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233431"	"00232332"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233432"	"00232333"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233433"	"00232334"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233434"	"00232335"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233435"	"00232336"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233436"	"00232337"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233437"	"00232338"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233438"	"00232339"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233439"	"00232340"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233440"	"00232341"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233441"	"00232342"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233442"	"00232343"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233443"	"00232344"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233444"	"00232345"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233445"	"00232346"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233446"	"00232347"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233447"	"00232348"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233448"	"00232349"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233449"	"00232350"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233450"	"00232351"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233451"	"00232352"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233452"	"00232353"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234740"	"00233641"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234741"	"00233642"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234742"	"00233643"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234743"	"00233644"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000235578"	"00234475"	"1"	"01807"	"01807"	"2019-05-17 18:01:18"	""	""	"SEQ"	"DNA"	""	""
"0000241558"	"00240448"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000293399"	"00292231"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000302794"	"00301669"	"1"	"01807"	"01807"	"2020-05-20 08:52:01"	""	""	"SEQ"	"DNA"	""	""
"0000305812"	"00304683"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000308963"	"00307823"	"1"	"00006"	"00006"	"2020-08-18 14:48:39"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000309664"	"00308519"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309665"	"00308520"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309760"	"00308615"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309784"	"00308639"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000310366"	"00309221"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310367"	"00309222"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000321002"	"00319821"	"1"	"00008"	"00008"	"2020-11-08 09:25:19"	""	""	"?"	"DNA"	""	""
"0000321031"	"00319850"	"1"	"00008"	"00008"	"2020-11-08 09:25:19"	""	""	"?"	"DNA"	""	""
"0000326631"	"00325420"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329230"	"00328015"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329531"	"00328316"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000333194"	"00331975"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333195"	"00331976"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333730"	"00332506"	"1"	"00000"	"00006"	"2021-02-19 16:33:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333731"	"00332507"	"1"	"00000"	"00006"	"2021-02-19 16:33:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334580"	"00333355"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000335072"	"00333846"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335073"	"00333847"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335487"	"00334261"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335650"	"00334421"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336626"	"00335397"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000360172"	"00358939"	"1"	"00006"	"00006"	"2021-03-17 16:44:10"	""	""	"SEQ"	"DNA"	""	""
"0000360189"	"00358952"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360571"	"00359330"	"1"	"00000"	"00006"	"2021-03-19 13:20:32"	""	""	"SEQ-NG"	"DNA"	""	"105-gene panel"
"0000369584"	"00368356"	"1"	"01695"	"01695"	"2021-05-03 14:25:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000373904"	"00372672"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373927"	"00372695"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373959"	"00372727"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373978"	"00372746"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374604"	"00373369"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000374746"	"00373511"	"1"	"00000"	"00006"	"2021-05-14 19:24:06"	""	""	"SEQ-NG"	"DNA"	""	"316-gene panel"
"0000375040"	"00373808"	"1"	"00000"	"00006"	"2021-05-21 12:20:36"	""	""	"arraySEQ"	"DNA"	""	"Reseq"
"0000376103"	"00374909"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376495"	"00375298"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376496"	"00375299"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376630"	"00375433"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377956"	"00376750"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377966"	"00376760"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377969"	"00376763"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378000"	"00376794"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378003"	"00376797"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378394"	"00377189"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378416"	"00377211"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378417"	"00377212"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000379125"	"00377921"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379126"	"00377922"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379134"	"00377930"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379135"	"00377931"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379136"	"00377932"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379137"	"00377933"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000379138"	"00377934"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"arraySNP"	"DNA"	"blood"	""
"0000380580"	"00379380"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380581"	"00379381"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380768"	"00379569"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381047"	"00379845"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381332"	"00380130"	"1"	"00000"	"03840"	"2021-08-10 09:47:12"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000381510"	"00380296"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000382816"	"00381600"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382838"	"00381622"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382848"	"00381632"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382853"	"00381637"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382862"	"00381646"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383177"	"00381961"	"1"	"00000"	"03840"	"2021-09-06 15:35:13"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000383536"	"00382322"	"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"
"0000383537"	"00382323"	"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"
"0000383538"	"00382324"	"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"
"0000383540"	"00382326"	"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"
"0000383541"	"00382327"	"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"
"0000383775"	"00382561"	"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"
"0000383776"	"00382562"	"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"
"0000384669"	"00383444"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384670"	"00383445"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384671"	"00383446"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384672"	"00383447"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384998"	"00383773"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385066"	"00383841"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385138"	"00383913"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I;arrayCGH"	"DNA"	""	""
"0000385141"	"00383916"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385200"	"00383975"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385293"	"00384068"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"arraySNP"	"DNA"	""	""
"0000385436"	"00384211"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385545"	"00384320"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385970"	"00384744"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000385988"	"00384762"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000385989"	"00384763"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000385990"	"00384764"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000385991"	"00384765"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000385992"	"00384766"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000386248"	"00385019"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted next-generation sequencing/Sanger sequencing"
"0000386304"	"00385075"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted next-generation sequencing/Sanger sequencing"
"0000386844"	"00385615"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"arraySNP"	"DNA"	""	"RD-xip"
"0000386964"	"00385736"	"1"	"00000"	"03840"	"2021-10-14 15:38:02"	""	""	"SEQ-NG"	"DNA"	"blood"	"Panel 6 containing 386 genes"
"0000387462"	"00386233"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387507"	"00386278"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387905"	"00386677"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388003"	"00386775"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388007"	"00386779"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388286"	"00387060"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388287"	"00387061"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388618"	"00387392"	"1"	"00000"	"03840"	"2021-10-29 09:42:54"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000389713"	"00388472"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000389716"	"00388475"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000390449"	"00389206"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390598"	"00389355"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390673"	"00389430"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000390674"	"00389431"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390718"	"00389475"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390809"	"00389566"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000391182"	"00389939"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391544"	"00390303"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391545"	"00390304"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391546"	"00390305"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392416"	"00391174"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392417"	"00391175"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392418"	"00391176"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392597"	"00391355"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000392598"	"00391356"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000392629"	"00391387"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000392820"	"00391578"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000394791"	"00393543"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394850"	"00393602"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394893"	"00393645"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394967"	"00393719"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395079"	"00393831"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395249"	"00394001"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG;arraySNP;PCR;SEQ"	"DNA"	"blood"	"WES"
"0000395855"	"00394608"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395856"	"00394609"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395857"	"00394610"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395858"	"00394611"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397023"	"00395784"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397048"	"00395809"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397650"	"00396409"	"1"	"00006"	"00006"	"2021-12-15 14:29:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000400978"	"00399735"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SNPlex;SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000400979"	"00399736"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SNPlex;SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000401016"	"00399773"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401017"	"00399774"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401018"	"00399775"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401019"	"00399776"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401020"	"00399777"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401021"	"00399778"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401022"	"00399779"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"?"	"DNA"	""	""
"0000401023"	"00399780"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"PE;SEQ-NG;RT-PCR;SEQ"	"DNA;RNA"	"blood"	""
"0000401024"	"00399781"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"PE;SEQ-NG;RT-PCR;SEQ"	"DNA;RNA"	"blood"	""
"0000401025"	"00399782"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ;PCR"	"DNA"	"?"	""
"0000401026"	"00399783"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ;PCR"	"DNA"	"?"	""
"0000401027"	"00399784"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ;PCR"	"DNA"	""	""
"0000401028"	"00399785"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401029"	"00399786"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401030"	"00399787"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401031"	"00399788"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401032"	"00399789"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401033"	"00399790"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401034"	"00399791"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000401035"	"00399792"	"1"	"00000"	"00008"	"2022-01-23 10:23:00"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000405350"	"00404112"	"1"	"00006"	"00006"	"2022-02-27 18:55:36"	""	""	"SEQ"	"DNA"	""	""
"0000421746"	"00420437"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421882"	"00420573"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000430944"	"00429531"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430992"	"00429579"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431116"	"00429703"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431262"	"00429849"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431280"	"00429867"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431284"	"00429871"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431304"	"00429891"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431326"	"00429913"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431328"	"00429915"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431346"	"00429933"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431368"	"00429955"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431409"	"00429996"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431457"	"00430044"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431518"	"00430105"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431536"	"00430123"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431554"	"00430141"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000443147"	"00441661"	"1"	"04542"	"00008"	"2023-11-09 09:55:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"Published as WGS"
"0000448579"	"00447002"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448588"	"00447011"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448841"	"00447264"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448872"	"00447295"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448887"	"00447310"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448910"	"00447333"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449158"	"00447581"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000453150"	"00451549"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453151"	"00451550"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453152"	"00451551"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453153"	"00451552"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453155"	"00451554"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000460624"	"00459003"	"1"	"00006"	"00006"	"2024-12-23 15:29:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000470773"	"00469105"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470774"	"00469106"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471655"	"00469987"	"1"	"00006"	"00006"	"2025-11-24 13:13:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 274
"{{screeningid}}"	"{{geneid}}"
"0000088203"	"MERTK"
"0000100500"	"MERTK"
"0000145108"	"EYS"
"0000156361"	"MERTK"
"0000174713"	"MERTK"
"0000174714"	"MERTK"
"0000174715"	"MERTK"
"0000174716"	"MERTK"
"0000174717"	"MERTK"
"0000174718"	"MERTK"
"0000174719"	"MERTK"
"0000174720"	"MERTK"
"0000174721"	"MERTK"
"0000174722"	"MERTK"
"0000174723"	"MERTK"
"0000174724"	"MERTK"
"0000174725"	"MERTK"
"0000174726"	"MERTK"
"0000174727"	"MERTK"
"0000174728"	"MERTK"
"0000174730"	"MERTK"
"0000174731"	"MERTK"
"0000174732"	"MERTK"
"0000174733"	"MERTK"
"0000174735"	"MERTK"
"0000174736"	"MERTK"
"0000174737"	"MERTK"
"0000174738"	"MERTK"
"0000174739"	"MERTK"
"0000174740"	"MERTK"
"0000174741"	"MERTK"
"0000174742"	"MERTK"
"0000174743"	"MERTK"
"0000174744"	"MERTK"
"0000174745"	"MERTK"
"0000174746"	"MERTK"
"0000174747"	"MERTK"
"0000174748"	"MERTK"
"0000174749"	"MERTK"
"0000174750"	"MERTK"
"0000174751"	"MERTK"
"0000174753"	"MERTK"
"0000174754"	"MERTK"
"0000174755"	"MERTK"
"0000174756"	"MERTK"
"0000174757"	"MERTK"
"0000174758"	"MERTK"
"0000174759"	"MERTK"
"0000174760"	"MERTK"
"0000174761"	"MERTK"
"0000174762"	"MERTK"
"0000174763"	"MERTK"
"0000174764"	"MERTK"
"0000174765"	"MERTK"
"0000174766"	"MERTK"
"0000174767"	"MERTK"
"0000174768"	"MERTK"
"0000174769"	"MERTK"
"0000174770"	"MERTK"
"0000174771"	"MERTK"
"0000174772"	"MERTK"
"0000174773"	"MERTK"
"0000174774"	"MERTK"
"0000174775"	"MERTK"
"0000174776"	"MERTK"
"0000174777"	"MERTK"
"0000174778"	"MERTK"
"0000174779"	"MERTK"
"0000174780"	"MERTK"
"0000174781"	"MERTK"
"0000174782"	"MERTK"
"0000174783"	"MERTK"
"0000174784"	"MERTK"
"0000174785"	"MERTK"
"0000174786"	"MERTK"
"0000174787"	"MERTK"
"0000174788"	"MERTK"
"0000174789"	"MERTK"
"0000174790"	"MERTK"
"0000174791"	"MERTK"
"0000174792"	"MERTK"
"0000174793"	"MERTK"
"0000233425"	"MERTK"
"0000233426"	"MERTK"
"0000233427"	"MERTK"
"0000233428"	"MERTK"
"0000233429"	"MERTK"
"0000233430"	"MERTK"
"0000233431"	"MERTK"
"0000233432"	"MERTK"
"0000233433"	"MERTK"
"0000233434"	"MERTK"
"0000233435"	"MERTK"
"0000233436"	"MERTK"
"0000233437"	"MERTK"
"0000233438"	"MERTK"
"0000233439"	"MERTK"
"0000233440"	"MERTK"
"0000233441"	"MERTK"
"0000233442"	"MERTK"
"0000233443"	"MERTK"
"0000233444"	"MERTK"
"0000233445"	"MERTK"
"0000233446"	"MERTK"
"0000233447"	"MERTK"
"0000233448"	"MERTK"
"0000233449"	"MERTK"
"0000233450"	"MERTK"
"0000233451"	"MERTK"
"0000233452"	"MERTK"
"0000234740"	"MERTK"
"0000234741"	"MERTK"
"0000234742"	"MERTK"
"0000234743"	"MERTK"
"0000241558"	"MERTK"
"0000308963"	"RP1"
"0000309664"	"MERTK"
"0000309665"	"MERTK"
"0000309760"	"MERTK"
"0000309784"	"MERTK"
"0000310366"	"MERTK"
"0000310367"	"MERTK"
"0000321002"	"MERTK"
"0000321031"	"MERTK"
"0000326631"	"MERTK"
"0000329230"	"MERTK"
"0000329531"	"MERTK"
"0000333194"	"MERTK"
"0000333195"	"MERTK"
"0000333730"	"MERTK"
"0000333731"	"EYS"
"0000333731"	"MERTK"
"0000334580"	"SNRNP200"
"0000335072"	"MERTK"
"0000335073"	"MERTK"
"0000335487"	"MERTK"
"0000335650"	"MERTK"
"0000336626"	"MERTK"
"0000360571"	"MERTK"
"0000369584"	"ABCA4"
"0000374746"	"MERTK"
"0000375040"	"MERTK"
"0000376495"	"MERTK"
"0000376496"	"MERTK"
"0000378394"	"MERTK"
"0000378416"	"MERTK"
"0000378417"	"MERTK"
"0000379125"	"MERTK"
"0000379126"	"MERTK"
"0000379134"	"MERTK"
"0000379135"	"MERTK"
"0000379136"	"MERTK"
"0000379137"	"MERTK"
"0000379138"	"MERTK"
"0000380580"	"MERTK"
"0000380581"	"MERTK"
"0000380768"	"MERTK"
"0000381047"	"MERTK"
"0000381510"	"MERTK"
"0000382816"	"MERTK"
"0000382838"	"MERTK"
"0000382848"	"MERTK"
"0000382853"	"MERTK"
"0000382862"	"RPGRIP1"
"0000383177"	"MERTK"
"0000383536"	"MERTK"
"0000383537"	"MERTK"
"0000383538"	"MERTK"
"0000383540"	"MERTK"
"0000383541"	"MERTK"
"0000383775"	"MERTK"
"0000383776"	"MERTK"
"0000384669"	"MERTK"
"0000384670"	"MERTK"
"0000384671"	"MERTK"
"0000384672"	"MERTK"
"0000384998"	"MERTK"
"0000385138"	"MERTK"
"0000385141"	"CNGB1"
"0000385200"	"MERTK"
"0000385293"	"MERTK"
"0000385436"	"MERTK"
"0000385545"	"MERTK"
"0000385970"	"MERTK"
"0000385988"	"MERTK"
"0000385989"	"MERTK"
"0000385990"	"MERTK"
"0000385991"	"MERTK"
"0000385992"	"MERTK"
"0000386248"	"MERTK"
"0000386304"	"MERTK"
"0000386844"	"MERTK"
"0000386964"	"MERTK"
"0000387462"	"MERTK"
"0000387507"	"ADAMTS18"
"0000387905"	"MERTK"
"0000388003"	"MERTK"
"0000388007"	"MERTK"
"0000388286"	"MERTK"
"0000388287"	"MERTK"
"0000389713"	"MERTK"
"0000389716"	"MERTK"
"0000390449"	"MERTK"
"0000390598"	"MERTK"
"0000390673"	"MERTK"
"0000390674"	"MERTK"
"0000390718"	"MERTK"
"0000390809"	"MERTK"
"0000391182"	"MERTK"
"0000391544"	"MERTK"
"0000391545"	"MERTK"
"0000391546"	"MERTK"
"0000392416"	"MERTK"
"0000392417"	"MERTK"
"0000392418"	"MERTK"
"0000392597"	"MERTK"
"0000392598"	"MERTK"
"0000392629"	"MERTK"
"0000392820"	"MERTK"
"0000394791"	"MERTK"
"0000394850"	"MERTK"
"0000394893"	"MERTK"
"0000394967"	"MERTK"
"0000395079"	"MERTK"
"0000395249"	"MERTK"
"0000395855"	"MERTK"
"0000395856"	"MERTK"
"0000395857"	"MERTK"
"0000395858"	"MERTK"
"0000397023"	"MERTK"
"0000397048"	"MERTK"
"0000400978"	"MERTK"
"0000400979"	"MERTK"
"0000401016"	"MERTK"
"0000401017"	"MERTK"
"0000401018"	"MERTK"
"0000401019"	"MERTK"
"0000401020"	"MERTK"
"0000401021"	"MERTK"
"0000401022"	"MERTK"
"0000401023"	"MERTK"
"0000401024"	"MERTK"
"0000401025"	"MERTK"
"0000401026"	"MERTK"
"0000401027"	"MERTK"
"0000401028"	"MERTK"
"0000401029"	"MERTK"
"0000401030"	"MERTK"
"0000401031"	"MERTK"
"0000401032"	"MERTK"
"0000401033"	"MERTK"
"0000401034"	"MERTK"
"0000401035"	"MERTK"
"0000405350"	"MERTK"
"0000421746"	"MERTK"
"0000421882"	"MERTK"
"0000430944"	"MERTK"
"0000430992"	"MERTK"
"0000431116"	"MERTK"
"0000431262"	"MERTK"
"0000431280"	"MERTK"
"0000431284"	"MERTK"
"0000431304"	"MERTK"
"0000431326"	"MERTK"
"0000431328"	"MERTK"
"0000431346"	"MERTK"
"0000431368"	"MERTK"
"0000431409"	"MERTK"
"0000431457"	"MERTK"
"0000431518"	"MERTK"
"0000431536"	"MERTK"
"0000431554"	"MERTK"
"0000443147"	"MERTK"
"0000460624"	"MERTK"


## 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 = 468
"{{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}}"
"0000019500"	"3"	"90"	"2"	"112686727"	"112686733"	"del"	"0"	"00102"	"MERTK_000003"	"g.112686727_112686733del"	""	"{PMID:Wang 2014a:24154662}"	""	"91_97del"	""	"Germline"	""	""	"0"	""	""	"g.111929150_111929156del"	""	"pathogenic (recessive)"	""
"0000019501"	"3"	"90"	"2"	"112687025"	"112687025"	"subst"	"0"	"00102"	"MERTK_000002"	"g.112687025G>A"	""	"{PMID:Wang 2014a:24154662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929448G>A"	""	"pathogenic (recessive)"	""
"0000140632"	"3"	"95"	"2"	"112705108"	"112705108"	"subst"	"0"	"00243"	"MERTK_000001"	"g.112705108C>T"	"11/216"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.111947531C>T"	""	"pathogenic"	""
"0000162799"	"3"	"90"	"2"	"112705105"	"112705105"	"subst"	"0"	"01769"	"MERTK_000004"	"g.112705105G>T"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.111947528G>T"	""	"pathogenic"	""
"0000170949"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"01244"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:de Castro-Miró 2014:24516651}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000245789"	"0"	"10"	"2"	"112751884"	"112751884"	"subst"	"0.00161292"	"02330"	"MERTK_000020"	"g.112751884A>G"	""	""	""	"MERTK(NM_006343.2):c.1353A>G (p.Q451=), MERTK(NM_006343.3):c.1353A>G (p.Q451=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111994307A>G"	""	"benign"	""
"0000248492"	"0"	"10"	"2"	"112765973"	"112765973"	"subst"	"0.586403"	"02325"	"MERTK_000037"	"g.112765973A>G"	""	""	""	"MERTK(NM_006343.3):c.1881A>G (p.S627=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112008396A>G"	""	"benign"	""
"0000248798"	"0"	"10"	"2"	"112755001"	"112755001"	"subst"	"0.598436"	"02325"	"MERTK_000036"	"g.112755001A>G"	""	""	""	"MERTK(NM_006343.3):c.1552A>G (p.I518V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111997424A>G"	""	"benign"	""
"0000254679"	"0"	"30"	"2"	"112686737"	"112686737"	"subst"	"0.00190897"	"01943"	"MERTK_000007"	"g.112686737A>G"	""	""	""	"MERTK(NM_006343.2):c.102A>G (p.L34=), MERTK(NM_006343.3):c.102A>G (p.L34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111929160A>G"	""	"likely benign"	""
"0000279660"	"0"	"30"	"2"	"112686742"	"112686742"	"subst"	"0.000239658"	"02330"	"MERTK_000008"	"g.112686742C>T"	""	""	""	"MERTK(NM_006343.2):c.107C>T (p.P36L), MERTK(NM_006343.3):c.107C>T (p.P36L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111929165C>T"	""	"likely benign"	""
"0000279662"	"0"	"50"	"2"	"112740535"	"112740535"	"subst"	"0.000913832"	"02330"	"MERTK_000018"	"g.112740535C>T"	""	""	""	"MERTK(NM_006343.2):c.1261C>T (p.R421W), MERTK(NM_006343.3):c.1261C>T (p.R421W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111982958C>T"	""	"VUS"	""
"0000279663"	"0"	"10"	"2"	"112751871"	"112751871"	"subst"	"2.03181E-5"	"02330"	"MERTK_000019"	"g.112751871G>A"	""	""	""	"MERTK(NM_006343.2):c.1340G>A (p.R447Q), MERTK(NM_006343.3):c.1340G>A (p.R447Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111994294G>A"	""	"benign"	""
"0000279664"	"0"	"30"	"2"	"112751999"	"112751999"	"subst"	"0.000353409"	"02330"	"MERTK_000022"	"g.112751999T>A"	""	""	""	"MERTK(NM_006343.3):c.1450+18T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111994422T>A"	""	"likely benign"	""
"0000279665"	"0"	"10"	"2"	"112766060"	"112766060"	"subst"	"0.00190531"	"02330"	"MERTK_000026"	"g.112766060C>T"	""	""	""	"MERTK(NM_006343.2):c.1960+8C>T, MERTK(NM_006343.3):c.1960+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112008483C>T"	""	"benign"	""
"0000279666"	"0"	"10"	"2"	"112767592"	"112767592"	"subst"	"0.00149052"	"02330"	"MERTK_000027"	"g.112767592C>T"	""	""	""	"MERTK(NM_006343.3):c.2028C>T (p.Y676=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112010015C>T"	""	"benign"	""
"0000279667"	"0"	"10"	"2"	"112777052"	"112777052"	"subst"	"0.000438614"	"02330"	"MERTK_000028"	"g.112777052G>C"	""	""	""	"MERTK(NM_006343.3):c.2142G>C (p.L714=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112019475G>C"	""	"benign"	""
"0000279668"	"0"	"10"	"2"	"112779952"	"112779952"	"subst"	"0.00105173"	"02330"	"MERTK_000029"	"g.112779952G>C"	""	""	""	"MERTK(NM_006343.3):c.2467G>C (p.E823Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112022375G>C"	""	"benign"	""
"0000279669"	"0"	"10"	"2"	"112704966"	"112704966"	"subst"	"8.12658E-6"	"02330"	"MERTK_000012"	"g.112704966C>T"	""	""	""	"MERTK(NM_006343.3):c.584-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111947389C>T"	""	"benign"	""
"0000279670"	"0"	"10"	"2"	"112704965"	"112704965"	"subst"	"0"	"02330"	"MERTK_000011"	"g.112704965C>T"	""	""	""	"MERTK(NM_006343.3):c.584-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111947388C>T"	""	"benign"	""
"0000279671"	"0"	"50"	"2"	"112705040"	"112705040"	"subst"	"0"	"02330"	"MERTK_000013"	"g.112705040G>C"	""	""	""	"MERTK(NM_006343.3):c.653G>C (p.C218S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111947463G>C"	""	"VUS"	""
"0000279672"	"0"	"10"	"2"	"112725696"	"112725696"	"subst"	"0"	"02330"	"MERTK_000015"	"g.112725696G>A"	""	""	""	"MERTK(NM_006343.3):c.845-18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111968119G>A"	""	"benign"	""
"0000282478"	"0"	"10"	"2"	"112751928"	"112751928"	"subst"	"0.598295"	"02325"	"MERTK_000021"	"g.112751928G>A"	""	""	""	"MERTK(NM_006343.3):c.1397G>A (p.R466K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111994351G>A"	""	"benign"	""
"0000282479"	"0"	"10"	"2"	"112754880"	"112754880"	"subst"	"0.23694"	"02325"	"MERTK_000023"	"g.112754880G>A"	""	""	""	"MERTK(NM_006343.3):c.1451-20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111997303G>A"	""	"benign"	""
"0000282480"	"0"	"10"	"2"	"112754943"	"112754943"	"subst"	"0.237133"	"02325"	"MERTK_000024"	"g.112754943C>T"	""	""	""	"MERTK(NM_006343.3):c.1494C>T (p.N498=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111997366C>T"	""	"benign"	""
"0000282481"	"0"	"10"	"2"	"112686988"	"112686988"	"subst"	"0.231068"	"02325"	"MERTK_000009"	"g.112686988G>A"	""	""	""	"MERTK(NM_006343.3):c.353G>A (p.S118N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111929411G>A"	""	"benign"	""
"0000282482"	"0"	"10"	"2"	"112702647"	"112702647"	"subst"	"0.236495"	"02325"	"MERTK_000010"	"g.112702647C>T"	""	""	""	"MERTK(NM_006343.3):c.583+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111945070C>T"	""	"benign"	""
"0000291738"	"0"	"50"	"2"	"112765985"	"112765985"	"subst"	"8.12262E-5"	"01943"	"MERTK_000025"	"g.112765985C>T"	""	""	""	"MERTK(NM_006343.2):c.1893C>T (p.I631=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112008408C>T"	""	"VUS"	""
"0000291739"	"0"	"30"	"2"	"112766060"	"112766060"	"subst"	"0.00190531"	"01943"	"MERTK_000026"	"g.112766060C>T"	""	""	""	"MERTK(NM_006343.2):c.1960+8C>T, MERTK(NM_006343.3):c.1960+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112008483C>T"	""	"likely benign"	""
"0000291740"	"0"	"30"	"2"	"112656376"	"112656376"	"subst"	"0.00027997"	"01943"	"MERTK_000006"	"g.112656376G>C"	""	""	""	"MERTK(NM_006343.2):c.61+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111898799G>C"	""	"likely benign"	""
"0000291741"	"0"	"50"	"2"	"112722801"	"112722801"	"subst"	"0.000406237"	"01943"	"MERTK_000014"	"g.112722801C>G"	""	""	""	"MERTK(NM_006343.2):c.791C>G (p.A264G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111965224C>G"	""	"VUS"	""
"0000337017"	"0"	"10"	"2"	"112776979"	"112776979"	"subst"	"0.314752"	"02327"	"MERTK_000032"	"g.112776979C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112019402C>A"	""	"benign"	""
"0000343311"	"0"	"90"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"02327"	"MERTK_000033"	"g.112777089C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112019512C>T"	""	"pathogenic"	""
"0000345999"	"0"	"90"	"2"	"112732890"	"112732893"	"dup"	"0"	"02327"	"MERTK_000030"	"g.112732890_112732893dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111975313_111975316dup"	""	"pathogenic"	""
"0000350845"	"0"	"90"	"2"	"112778998"	"112778998"	"subst"	"0"	"02327"	"MERTK_000034"	"g.112778998G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.112021421G>T"	""	"pathogenic"	""
"0000358283"	"3"	"90"	"2"	"112777074"	"112777074"	"subst"	"1.21838E-5"	"01243"	"MERTK_000035"	"g.112777074C>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112019497C>T"	""	"pathogenic"	""
"0000394542"	"1"	"10"	"2"	"112722801"	"112722801"	"subst"	"0.000406237"	"02449"	"MERTK_000014"	"g.112722801C>G"	""	"{PMID:Eisenberger 2013:24265693}"	""	""	"reported in patient with two pathogenic variants in EYS; Align GVGD class C55; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs199779970"	"0"	""	""	"g.111965224C>G"	""	"benign"	""
"0000394544"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2214delT"	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394545"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394546"	"3"	"90"	"2"	"112740418"	"112740571"	"del"	"0"	"00006"	"SNRNP200_000007"	"g.(112733050_112740418)_(112740571_112751827)del"	""	"{PMID:Mackay 2010:20300561}"	""	"ex8 del"	"9kb deletion ex8"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000394547"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394548"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394549"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394550"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394551"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00006"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	"rs371956016"	"0"	""	""	"g.112019523G>T"	""	"pathogenic"	""
"0000394552"	"1"	"90"	"2"	"112766043"	"112766043"	"subst"	"5.68639E-5"	"00006"	"MERTK_000082"	"g.112766043C>T"	""	"{PMID:Wang 2014b:25097241}"	""	""	""	"Germline"	""	"rs119489105"	"0"	""	""	"g.112008466C>T"	""	"pathogenic"	""
"0000394553"	"3"	"90"	"2"	"112648153"	"112739206"	"del"	"0"	"02449"	"MERTK_000040"	"g.112648153_112739206del"	""	"{PMID:Ostergaard 2011:21677792}"	""	"hg18 112364622_112455675del91054"	"91 kb deletion, founder mutation Faroe Island, represents 30% of RP"	"Germline"	""	""	"0"	""	""	"g.111890576_111981629del"	""	"pathogenic"	""
"0000394554"	"3"	"90"	"2"	"112656315"	"112656315"	"subst"	"0"	"02449"	"MERTK_000041"	"g.112656315G>A"	""	"{PMID:Jinda 2016:27122965}"	""	"p.(Met1?)"	""	"Germline"	""	""	"0"	""	""	"g.111898738G>A"	""	"pathogenic"	""
"0000394555"	"3"	"90"	"2"	"112656347"	"112656347"	"subst"	"0"	"02449"	"MERTK_000042"	"g.112656347T>C"	""	"{PMID:Tada 2006:16710167}"	""	""	"Align GVGD class C0; SIFT Deleterious (score: 0.04); Mutation Taster polymorphism (p-value: 1); Polyphen2 possibly damaging with a score of 0.910"	"Germline"	""	"rs755593299"	"0"	""	""	"g.111898770T>C"	""	"pathogenic"	""
"0000394556"	"3"	"30"	"2"	"112656371"	"112656371"	"subst"	"0"	"02449"	"MERTK_000043"	"g.112656371G>C"	""	"{PMID:Tschernutter 2006:16714263}"	""	""	"considered this variant as most likely not disease causing since Arg20Ser (rs35898499) has a MAF of 0.05467 and the residue is poorly conserved; Align GVGD class C0; SIFT tolerated (score 0.38); Mutation Taster polymorphism (p value=1); Polyphen2 benign with a score of 0 (sensitivity: 1.00; specificity: 0.00) with poor conservation (polymorphic residue with a Thr present in Opossum)"	"Germline"	""	"rs552509122"	"0"	""	""	"g.111898794G>C"	""	"likely benign"	""
"0000394557"	"1"	"90"	"2"	"112656372"	"112656372"	"del"	"0"	"02449"	"MERTK_000044"	"g.112656372del"	""	"{PMID:Audo 2018:29659094}"	""	""	"putative compound hetetorzygous"	"Germline"	""	""	"0"	""	""	"g.111898795del"	""	"pathogenic"	""
"0000394558"	"1"	"90"	"2"	"112656374"	"112656374"	"subst"	"0"	"02449"	"MERTK_000045"	"g.112656374G>A"	""	"{PMID:Mackay 2010:20300561}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111898797G>A"	""	"pathogenic"	""
"0000394559"	"1"	"90"	"2"	"112686696"	"112686696"	"subst"	"0"	"02449"	"MERTK_000046"	"g.112686696G>A"	""	"{PMID:Wang 2014b:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929119G>A"	""	"pathogenic"	""
"0000394561"	"1"	"90"	"2"	"112686860"	"112686860"	"del"	"4.06124E-6"	"02449"	"MERTK_000047"	"g.112686860del"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	"rs527236083"	"0"	""	""	"g.111929283del"	""	"pathogenic"	""
"0000394562"	"3"	"90"	"2"	"112686943"	"112686944"	"del"	"0"	"02449"	"MERTK_000048"	"g.112686943_112686944del"	""	"{PMID:Yang 2018:29437494}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929366_111929367del"	""	"pathogenic"	""
"0000394563"	"3"	"90"	"2"	"112686960"	"112686960"	"subst"	"0"	"02449"	"MERTK_000049"	"g.112686960A>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	"rs786205533"	"0"	""	""	"g.111929383A>T"	""	"pathogenic"	""
"0000394564"	"1"	"90"	"2"	"112686978"	"112686978"	"subst"	"0"	"02449"	"MERTK_000050"	"g.112686978T>G"	""	"{PMID:Tada 2006:16710167}"	""	""	"no variant found 2nd chromosome;A lign GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.111929401T>G"	""	"pathogenic"	""
"0000394566"	"3"	"90"	"2"	"112702536"	"112786442"	"del"	"0"	"02449"	"MERTK_000039"	"g.(112687118_112702536)_(112786442_?)del"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	"c.483-?_c.3000+?del"	"119 kb deletion"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000394567"	"0"	"10"	"2"	"112702554"	"112702554"	"subst"	"3.2532E-5"	"02449"	"MERTK_000053"	"g.112702554G>A"	""	"{PMID:Mandal 2005:16123440}"	""	""	"Align GVGD class C25; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs781470358"	"0"	""	""	"g.111944977G>A"	""	"benign"	""
"0000394568"	"1"	"90"	"2"	"112705021"	"112705021"	"subst"	"0"	"02449"	"MERTK_000054"	"g.112705021A>C"	""	"Khan 2017"	""	""	"Align GVGD class C35; SIFT delerious (score 0); Mutation Taster disease causing (p value=0.997) Polyphen2 probably damaging with a score of 0.988 (sensitivity: 0.73; specificity: 0.96) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.111947444A>C"	""	"pathogenic"	""
"0000394569"	"0"	"10"	"2"	"112705027"	"112705027"	"subst"	"8.12381E-6"	"02449"	"MERTK_000055"	"g.112705027T>G"	""	"{PMID:Li 2011:21602930}"	""	""	"Reported only as a single het but partial sequencing of the exons Align GVGD class C45; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.111947450T>G"	""	"benign"	""
"0000394570"	"1"	"90"	"2"	"112705052"	"112705052"	"subst"	"0"	"02449"	"MERTK_000056"	"g.112705052G>A"	""	"{PMID:Audo 2018:29659094}"	""	""	"AA change from nonpolar neutral to polar negative Align GVGD class C65; SIFT deleterious score 0; mutation taster disease causing p value=1; Polyphen2 probably damaging with a score of 1.000 (sensitivity: 0.00; specificity: 1.00)"	"Germline"	"yes"	""	"0"	""	""	"g.111947475G>A"	""	"pathogenic"	""
"0000394571"	"3"	"90"	"2"	"112705105"	"112705105"	"subst"	"0"	"02449"	"MERTK_000004"	"g.112705105G>T"	""	"{PMID:Shahzadi 2010:20538656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111947528G>T"	""	"pathogenic"	""
"0000394572"	"3"	"90"	"2"	"112705108"	"112705108"	"subst"	"0"	"02449"	"MERTK_000001"	"g.112705108C>T"	""	"{PMID:Srilekha 2015:26147992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111947531C>T"	""	"pathogenic (recessive)"	""
"0000394573"	"3"	"90"	"2"	"112722795"	"112722795"	"subst"	"0"	"02449"	"MERTK_000058"	"g.112722795G>T"	""	"{PMID:Audo 2018:29659094}"	""	""	"AA able to form disulfide bound changed to an aromatic AA Align GVGD class C65; SIFT deleterious score 0; mutation taster disease causing p value=1; Polyphen2 probably damaging with a score of 1.000 (sensitivity: 0.00; specificity: 1.00)"	"Germline"	""	""	"0"	""	""	"g.111965218G>T"	""	"pathogenic"	""
"0000394574"	"1"	"90"	"2"	"112722824"	"112722824"	"subst"	"6.09335E-5"	"02449"	"MERTK_000059"	"g.112722824G>A"	""	"{PMID:Xu 2014) who considered it as less likely pathogenic with additional more pathogenic variant as a disease cause"	""	""	"Align GVGD class C15; SIFT deleterious (score 0); Mutation Taster disease causing (p value=0.939); Polyphen2 probably damaging with a score of 0.999 (sensitivity: 0.14; specificity: 0.99) and conserved residue except in Lizard (Thr residue)"	"Germline"	""	"rs140065278"	"0"	""	""	"g.111965247G>A"	""	"pathogenic"	""
"0000394575"	"3"	"90"	"2"	"112725293"	"112750421"	"delins"	"0"	"02449"	"MERTK_000060"	"g.112725293_112750421delinsATTACTAGGTGAAGCACAGTGGAGCACATGGCTTGGTATAGGAGACCC"	""	"{PMID:Evans 2017:28324114}"	""	""	"25kb deletion including ex6-8"	"Germline"	""	""	"0"	""	""	"g.111967716_111992844delinsATTACTAGGTGAAGCACAGTGGAGCACATGGCTTGGTATAGGAGACCC"	""	"pathogenic"	""
"0000394576"	"1"	"90"	"2"	"112725802"	"112725804"	"delins"	"0"	"02449"	"MERTK_000061"	"g.112725802_112725804delinsTT"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111968225_111968227delinsTT"	""	"pathogenic"	""
"0000394577"	"1"	"90"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"02449"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Audo 2018:29659094}"	""	""	"Align GVGD class C0; SIFT tolerated (score 0.29); Mutation Taster disease causing (p value=1) Polyphen2 benign with a score of 0.444 (sensitivity: 0.89; specificity: 0.90) and conserved residue Predicted to affect splicing"	"Germline"	"yes"	"rs527236084"	"0"	""	""	"g.111994404G>A"	""	"pathogenic"	""
"0000394578"	"3"	"90"	"2"	"112732891"	"112732891"	"subst"	"0.000300498"	"02449"	"MERTK_000062"	"g.112732891A>G"	""	"{PMID:Audo 2018:29659094}"	""	""	"Both AA are polar neutral Align GVGD class C0; SIFT deleterious score 0.03; mutation taster disease causing p value=0.995; Polyphen2 possibly damaging with a score of 0.472 (sensitivity: 0.89; specificity:0.90)"	"Germline"	""	"rs34943572"	"0"	""	""	"g.111975314A>G"	""	"pathogenic"	""
"0000394579"	"3"	"90"	"2"	"112732897"	"112732898"	"del"	"0"	"02449"	"MERTK_000063"	"g.112732897_112732898del"	""	"{PMID:Lukovic 2015:26263531}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111975320_111975321del"	""	"pathogenic"	""
"0000394580"	"3"	"90"	"2"	"112740418"	"112740571"	"del"	"0"	"02449"	"SNRNP200_000007"	"g.(112733050_112740418)_(112740571_112751827)del"	""	"{PMID:Mackay 2010:20300561}"	""	"ex8 del"	"9kb deletion ex8"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000394581"	"3"	"90"	"2"	"112740453"	"112740453"	"dup"	"0"	"02449"	"MERTK_000031"	"g.112740453dup"	""	"{PMID:Collin 2011:22128245}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111982876dup"	""	"pathogenic"	""
"0000394582"	"3"	"90"	"2"	"112740460"	"112740460"	"subst"	"0"	"02449"	"MERTK_000064"	"g.112740460G>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111982883G>T"	""	"pathogenic"	""
"0000394584"	"3"	"90"	"2"	"112751826"	"112751826"	"subst"	"0"	"02449"	"MERTK_000066"	"g.112751826A>G"	""	"Mendez-Vidal 2014"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111994249A>G"	""	"pathogenic"	""
"0000394585"	"3"	"90"	"2"	"112751832"	"112751833"	"del"	"0"	"02449"	"MERTK_000067"	"g.112751832_112751833del"	""	"{PMID:Audo 2018:29659094}"	""	""	""	"Germline"	""	"rs776644374"	"0"	""	""	"g.111994255_111994256del"	""	"pathogenic"	""
"0000394586"	"3"	"90"	"2"	"112751866"	"112751867"	"del"	"0"	"02449"	"MERTK_000068"	"g.112751866_112751867del"	""	"{PMID:Aldahmesh 2009:19956407}"	""	"1335delAG"	""	"Germline"	""	""	"0"	""	""	"g.111994289_111994290del"	""	"pathogenic"	""
"0000394587"	"0"	"10"	"2"	"112751972"	"112751972"	"subst"	"4.87488E-5"	"02449"	"MERTK_000069"	"g.112751972C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	"predicted to affect splicing; Align GVGD class C35; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1) probably damaging with a score of 1 (sensitivity: 0; specificity: 1) and conserved residue"	"Germline"	""	"rs781442827"	"0"	""	""	"g.111994395C>T"	""	"benign"	""
"0000394588"	"3"	"90"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"02449"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Eisenberger 2013:24265693}"	""	""	"Align GVGD class C0; SIFT tolerated (score 0.29); Mutation Taster disease causing (p value=1) Polyphen2 benign with a score of 0.444 (sensitivity: 0.89; specificity: 0.90) and conserved residue Predicted to affect splicing"	"Germline"	""	"rs527236084"	"0"	""	""	"g.111994404G>A"	""	"pathogenic"	""
"0000394589"	"1"	"90"	"2"	"112754979"	"112754979"	"del"	"0"	"02449"	"MERTK_000071"	"g.112754979del"	""	"{PMID:Eisenberger 2013:24265693}"	""	"1530delT"	""	"Germline"	""	""	"0"	""	""	"g.111997402del"	""	"pathogenic"	""
"0000394590"	"3"	"90"	"2"	"112755055"	"112755055"	"subst"	"0"	"02449"	"MERTK_000072"	"g.112755055T>G"	""	"{PMID:Patel 2016:26355662}"	""	""	"possible uniparental disomy"	"Germline"	""	"rs786205534"	"0"	""	""	"g.111997478T>G"	""	"pathogenic"	""
"0000394591"	"3"	"90"	"2"	"112758776"	"112758776"	"subst"	"0"	"02449"	"MERTK_000073"	"g.112758776A>G"	""	"{PMID:Gal 2000:11062461}"	""	""	""	"Germline"	""	"rs730880273"	"0"	""	""	"g.112001199A>G"	""	"pathogenic"	""
"0000394592"	"3"	"90"	"2"	"112758864"	"112758864"	"subst"	"4.06322E-6"	"02449"	"MERTK_000074"	"g.112758864G>A"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	""	"rs761251269"	"0"	""	""	"g.112001287G>A"	""	"pathogenic"	""
"0000394593"	"3"	"90"	"2"	"112760668"	"112760668"	"subst"	"4.0623E-6"	"02449"	"MERTK_000075"	"g.112760668G>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs746108786"	"0"	""	""	"g.112003091G>A"	""	"pathogenic"	""
"0000394594"	"3"	"90"	"2"	"112760722"	"112760729"	"delins"	"0"	"02449"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Eisenberger 2013:24265693}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112003145_112003152delinsT"	""	"pathogenic"	""
"0000394595"	"3"	"90"	"2"	"112760764"	"112760764"	"subst"	"0"	"02449"	"MERTK_000077"	"g.112760764G>A"	""	"{PMID:Eisenberger 2013:24265693}"	""	""	"Align GVGD class C15; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112003187G>A"	""	"pathogenic"	""
"0000394596"	"3"	"90"	"2"	"112761479"	"112761479"	"subst"	"0"	"02449"	"MERTK_000078"	"g.112761479A>C"	""	"{PMID:Ge 2015:26667666}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112003902A>C"	""	"pathogenic"	""
"0000394597"	"3"	"90"	"2"	"112761560"	"112761560"	"subst"	"4.06095E-6"	"02449"	"MERTK_000080"	"g.112761560G>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	"Align GVGD class C0; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs775460185"	"0"	""	""	"g.112003983G>C"	""	"pathogenic"	""
"0000394598"	"0"	"10"	"2"	"112765985"	"112765985"	"subst"	"4.06131E-6"	"02449"	"MERTK_000081"	"g.112765985C>G"	""	"{PMID:Coppieters 2012:22261762}"	""	""	"Align GVGD class C0; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs543947091"	"0"	""	""	"g.112008408C>G"	""	"benign"	""
"0000394599"	"0"	"50"	"2"	"112766043"	"112766043"	"subst"	"5.68639E-5"	"02449"	"MERTK_000082"	"g.112766043C>T"	""	"{PMID:Gal 2000:11062461}"	""	""	"no variant found 2nd chromosome"	"Germline"	""	"rs119489105"	"0"	""	""	"g.112008466C>T"	""	"VUS"	""
"0000394600"	"3"	"90"	"2"	"112767525"	"112767525"	"subst"	"0"	"02449"	"MERTK_000083"	"g.112767525G>T"	""	"{PMID:Riera 2017:28181551}"	""	""	"demonstrated to affect splicing on patient\'s mRNA with small amount of normal length mRNA;A lign GVD Class C0; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112009948G>T"	""	"pathogenic"	""
"0000394601"	"3"	"90"	"2"	"112767524"	"112767644"	"del"	"0"	"02449"	"MERTK_000038"	"g.(112766053_112767524)_(112767644_112776989)del"	""	"{PMID:Siemiatkowska 2011:22128245}"	""	"1732bp deletion exon 15"	"1732bp deletion exon 15, complex rearrangement sequenced but not specified"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000394602"	"3"	"90"	"2"	"112767634"	"112767638"	"del"	"0"	"02449"	"MERTK_000084"	"g.112767634_112767638del"	""	"{PMID:Gal 2000:11062461}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112010057_112010061del"	""	"pathogenic"	""
"0000394603"	"1"	"90"	"2"	"112767645"	"112767645"	"subst"	"0"	"02449"	"MERTK_000085"	"g.112767645T>G"	""	"{PMID:Audo 2018:29659094}"	""	""	"putative compound hetetorzygous"	"Germline"	""	""	"0"	""	""	"g.112010068T>G"	""	"pathogenic"	""
"0000394604"	"1"	"90"	"2"	"112777015"	"112777015"	"dup"	"0"	"02449"	"MERTK_000086"	"g.112777015dup"	""	"{PMID:Audo 2018:29659094}"	""	""	"putative compound hetetorzygous"	"Germline"	""	""	"0"	""	""	"g.112019438dup"	""	"pathogenic"	""
"0000394605"	"3"	"90"	"2"	"112777073"	"112777073"	"subst"	"4.06124E-6"	"02449"	"MERTK_000087"	"g.112777073T>A"	""	"{PMID:Audo 2018:29659094}"	""	""	"AA polar positive changed to an AA polar neutral Align GVGD class C15; SIFT deleterious score 0; mutation taster disease causing p value=1; Polyphen2 probably damaging with a score of 1 (sensitivity: 0; specificity:1)"	"Germline"	""	"rs749472520"	"0"	""	""	"g.112019496T>A"	""	"pathogenic"	""
"0000394606"	"11"	"90"	"2"	"112777074"	"112777074"	"subst"	"1.21838E-5"	"02449"	"MERTK_000035"	"g.112777074C>T"	""	"{PMID:McHenry 2004:15111602}"	""	""	""	"Germline"	""	"rs541717028"	"0"	""	""	"g.112019497C>T"	""	"pathogenic"	""
"0000394607"	"1"	"50"	"2"	"112740571"	"112740571"	"subst"	"2.43726E-5"	"02449"	"MERTK_000065"	"g.112740571G>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs774577413"	"0"	""	""	"g.111982994G>A"	""	"VUS"	""
"0000394608"	"11"	"90"	"2"	"112785971"	"112785971"	"subst"	"8.12282E-6"	"02449"	"MERTK_000101"	"g.112785971C>T"	""	"{PMID:Al-Khersan 2017:28462455}"	""	""	"Align GVGD class C15; SIFT deleterious (score 0.01); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs746291728"	"0"	""	""	"g.112028394C>T"	""	"pathogenic"	""
"0000394609"	"3"	"90"	"2"	"112777090"	"112777090"	"subst"	"0"	"02449"	"MERTK_000089"	"g.112777090G>A"	""	"{PMID:Coppieters 2014:24625443}"	""	""	"Align GVGD class C35; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112019513G>A"	""	"pathogenic"	""
"0000394610"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"02449"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Ebermann 2007:17301963 }"	""	""	""	"Germline"	""	"rs371956016"	"0"	""	""	"g.112019523G>T"	""	"pathogenic"	""
"0000394611"	"3"	"90"	"2"	"112779003"	"112779003"	"subst"	"0"	"02449"	"MERTK_000090"	"g.112779003C>T"	""	"{PMID:O\'Sullivan 2012:22581970}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021426C>T"	""	"pathogenic"	""
"0000394612"	"3"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"02449"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Tschernutter 2006:16714263}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0000394613"	"1"	"90"	"2"	"112777074"	"112777074"	"subst"	"1.21838E-5"	"02449"	"MERTK_000035"	"g.112777074C>T"	""	"{PMID:Wang 2014b:25097241}"	""	""	""	"Germline"	""	"rs541717028"	"0"	""	""	"g.112019497C>T"	""	"pathogenic"	""
"0000394614"	"0"	"10"	"2"	"112779046"	"112779046"	"subst"	"0"	"02449"	"MERTK_000093"	"g.112779046A>G"	""	"{PMID:Coppieters 2012:22261762}"	""	""	"Align GVGD class C25; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112021469A>G"	""	"benign"	""
"0000394615"	"3"	"90"	"2"	"112779071"	"112779071"	"subst"	"0"	"02449"	"MERTK_000094"	"g.112779071C>G"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	"rs786205535"	"0"	""	""	"g.112021494C>G"	""	"pathogenic"	""
"0000394616"	"1"	"90"	"2"	"112687025"	"112687025"	"subst"	"0"	"02449"	"MERTK_000002"	"g.112687025G>A"	""	"{PMID:Ge 2015:26667666}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929448G>A"	""	"pathogenic"	""
"0000394617"	"3"	"90"	"2"	"112779111"	"112779111"	"subst"	"2.44545E-5"	"02449"	"MERTK_000096"	"g.112779111G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	"Align GVGD class C55; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112021534G>A"	""	"pathogenic"	""
"0000394618"	"3"	"90"	"2"	"112779132"	"112779132"	"subst"	"0"	"02449"	"MERTK_000097"	"g.112779132C>T"	""	"{PMID:Ksantini 2012:22180149}"	""	""	""	"Germline"	""	"rs387907314"	"0"	""	""	"g.112021555C>T"	""	"pathogenic"	""
"0000394619"	"3"	"90"	"2"	"112779862"	"112779862"	"del"	"0"	"02449"	"MERTK_000098"	"g.112779862del"	""	"{PMID:Consugar 2015:25412400}"	""	"2375delA"	""	"Germline"	""	""	"0"	""	""	"g.112022285del"	""	"pathogenic"	""
"0000394620"	"0"	"10"	"2"	"112779920"	"112779920"	"subst"	"6.9031E-5"	"02449"	"MERTK_000099"	"g.112779920A>C"	""	"{PMID:Eisenberger 2013:24265693}"	""	""	"reported in a patient with pathogenic mutation on RPGRIP; Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs141361084"	"0"	""	""	"g.112022343A>C"	""	"benign"	""
"0000394621"	"3"	"90"	"2"	"112785926"	"112785926"	"subst"	"0"	"02449"	"MERTK_000100"	"g.112785926A>G"	""	"{PMID:Siemiatkowska 2011:22128245}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112028349A>G"	""	"pathogenic"	""
"0000394622"	"3"	"90"	"2"	"112785972"	"112785972"	"subst"	"0"	"02449"	"MERTK_000102"	"g.112785972G>C"	""	"{PMID:Collin 2011:22128245}"	""	""	"possible uniparental disomy;A lign GVGD class C0; SIFT deleterious (score 0.02); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112028395G>C"	""	"pathogenic"	""
"0000394623"	"0"	"10"	"2"	"112786167"	"112786167"	"subst"	"6.49978E-5"	"02449"	"MERTK_000104"	"g.112786167G>A"	""	"{PMID:Tada 2006:16710167}"	""	""	"Align GVGD class C0; SIFT tolerated (score: 0.19); Mutation Taster polymorphism (p value=1) Polyphen2 benign with a score of 0 (sensitivity: 1.00; specificity: 0.00) with same change in non-human primate"	"Germline"	""	"rs149131360"	"0"	""	""	"g.112028590G>A"	""	"benign"	""
"0000394624"	"0"	"10"	"2"	"112786314"	"112786314"	"subst"	"3.25105E-5"	"02449"	"MERTK_000105"	"g.112786314C>T"	""	"{PMID:Li 2011:21602930}"	""	""	"Align GVGD class C0; SIFT tolerated (score: 0.7); Mutation Taster polymorphism (p value=1) Polyphen2 benign with a score of 0.001 (sensitivity: 0.99; specificity: 0.15) and low conservation with same change in dog"	"Germline"	""	"rs201460398"	"0"	""	""	"g.112028737C>T"	""	"benign"	""
"0000394625"	"2"	"50"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00006"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Wang 2014b:25097241}"	""	""	""	"Germline"	""	"rs772421550"	"0"	""	""	"g.111929403C>G"	""	"VUS"	""
"0000394626"	"2"	"90"	"2"	"112761490"	"112761490"	"subst"	"0"	"02449"	"MERTK_000079"	"g.112761490G>A"	""	"{PMID:Audo 2018:29659094}"	""	""	"putative compound hetetorzygous;A A nonpolar neutral changed to AA polar neutral; Align GVD class C0; SIFT deleterious score 0, mutation taster disease causing p value=1, Polyphen2 probably damaging with a score of 1.000 ((sensitivity: 0.00; specificity: 1.00)"	"Germline"	""	""	"0"	""	""	"g.112003913G>A"	""	"pathogenic"	""
"0000394627"	"2"	"90"	"2"	"112766043"	"112766043"	"subst"	"5.68639E-5"	"02449"	"MERTK_000082"	"g.112766043C>T"	""	"{PMID:Mackay 2010:20300561}"	""	""	""	"Germline"	""	"rs119489105"	"0"	""	""	"g.112008466C>T"	""	"pathogenic"	""
"0000394628"	"2"	"90"	"2"	"112740571"	"112740571"	"subst"	"2.43726E-5"	"02449"	"MERTK_000065"	"g.112740571G>A"	""	"{PMID:Wang 2014b:25097241}"	""	""	""	"Germline"	""	"rs774577413"	"0"	""	""	"g.111982994G>A"	""	"pathogenic"	""
"0000394629"	"2"	"90"	"2"	"112687005"	"112687005"	"subst"	"0"	"02449"	"MERTK_000052"	"g.112687005C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	"rs527236134"	"0"	""	""	"g.111929428C>T"	""	"pathogenic"	""
"0000394630"	"2"	"90"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"02449"	"MERTK_000051"	"g.112686980C>G"	""	"Khan 2018"	""	""	"Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs772421550"	"0"	""	""	"g.111929403C>G"	""	"pathogenic"	""
"0000394631"	"2"	"90"	"2"	"112705052"	"112705053"	"delins"	"0"	"02449"	"MERTK_000057"	"g.112705052_112705053delinsAA"	""	"{PMID:Audo 2018:29659094}"	""	""	"AA nonpolar neutral changed to AA polar neutral Align GVGD class C65, SIFT deleterious score 0,, no prediction on Mutation Taster; Polyphen2, probably damaging, p value=1, (sensitivity: 0.00; specificity: 1.00)"	"Germline"	"yes"	""	"0"	""	""	"g.111947475_111947476delinsAA"	""	"pathogenic"	""
"0000394632"	"2"	"90"	"2"	"112777090"	"112777090"	"subst"	"0"	"02449"	"MERTK_000089"	"g.112777090G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	"Align GVGD class C35; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112019513G>A"	""	"pathogenic"	""
"0000394633"	"2"	"90"	"2"	"112732890"	"112732893"	"dup"	"0"	"02449"	"MERTK_000030"	"g.112732890_112732893dup"	""	"{PMID:Audo 2018:29659094}"	""	""	""	"Germline"	"yes"	"rs777350533"	"0"	""	""	"g.111975313_111975316dup"	""	"pathogenic"	""
"0000394634"	"2"	"90"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"02449"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Eisenberger 2013:24265693}"	""	""	"Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs772421550"	"0"	""	""	"g.111929403C>G"	""	"pathogenic"	""
"0000394635"	"2"	"90"	"2"	"112766043"	"112766043"	"subst"	"5.68639E-5"	"02449"	"MERTK_000082"	"g.112766043C>T"	""	"{PMID:Audo 2018:29659094}"	""	""	"putative compound hetetorzygous"	"Germline"	""	"rs119489105"	"0"	""	""	"g.112008466C>T"	""	"pathogenic"	""
"0000394636"	"2"	"90"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"02449"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Audo 2018:29659094}"	""	""	"putative compound hetetorzygous;A lign GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs772421550"	"0"	""	""	"g.111929403C>G"	""	"pathogenic"	""
"0000394637"	"11"	"50"	"2"	"112786034"	"112786034"	"subst"	"0.00188431"	"02449"	"MERTK_000103"	"g.112786034C>T"	""	"{PMID:McHenry 2004:15111602}"	""	""	"upstream stop codon; functional analysis indicates variant is likely benign;A lign GVGD class 0; SIFT deleterious (score 0.02); Mutation Taster polymorphism (p value=1); Polyphen2 probably damaging with a score of 0958 (sensitivity: 0.78; specificity: 0.95) and poorly conserved residue)"	"Germline"	""	"rs2230516"	"0"	""	""	"g.112028457C>T"	""	"VUS"	""
"0000394638"	"21"	"90"	"2"	"112785971"	"112785971"	"subst"	"8.12282E-6"	"02449"	"MERTK_000101"	"g.112785971C>T"	""	"{PMID:McHenry 2004:15111602}"	""	""	"Align GVGD class C15; SIFT deleterious (score 0.01); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	"rs746291728"	"0"	""	""	"g.112028394C>T"	""	"pathogenic"	""
"0000394639"	"2"	"90"	"2"	"112777081"	"112777081"	"del"	"0"	"02449"	"MERTK_000088"	"g.112777081del"	""	"{PMID:Xu 2014:24938718}"	""	"2171delT"	""	"Germline"	""	""	"0"	""	""	"g.112019504del"	""	"pathogenic"	""
"0000394640"	"21"	"90"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"02449"	"MERTK_000033"	"g.112777089C>T"	""	"{PMID:Al-Khersan 2017:28462455}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112019512C>T"	""	"pathogenic"	""
"0000394641"	"2"	"50"	"2"	"112779028"	"112779028"	"subst"	"4.06597E-6"	"02449"	"MERTK_000092"	"g.112779028C>T"	""	"{PMID:Wang 2014b:25097241}"	""	""	"Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112021451C>T"	""	"VUS"	""
"0000394642"	"2"	"90"	"2"	"112779096"	"112779096"	"subst"	"0"	"02449"	"MERTK_000095"	"g.112779096C>A"	""	"{PMID:Ge 2015:26667666}"	""	""	"Align GVGD class C35; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue"	"Germline"	""	""	"0"	""	""	"g.112021519C>A"	""	"pathogenic"	""
"0000476133"	"3"	"90"	"2"	"112686859"	"112686859"	"del"	"0"	"02591"	"MERTK_000106"	"g.112686859del"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236083"	"0"	""	""	"g.111929282del"	""	"pathogenic"	""
"0000476134"	"0"	"90"	"2"	"112686978"	"112686978"	"subst"	"0"	"02591"	"MERTK_000050"	"g.112686978T>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929401T>G"	""	"pathogenic"	""
"0000476135"	"0"	"10"	"2"	"112686988"	"112686988"	"subst"	"0.231068"	"02591"	"MERTK_000009"	"g.112686988G>A"	"229/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs13027171"	"0"	""	""	"g.111929411G>A"	""	"benign"	""
"0000476136"	"0"	"90"	"2"	"112702554"	"112702554"	"subst"	"3.2532E-5"	"02591"	"MERTK_000053"	"g.112702554G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs781470358"	"0"	""	""	"g.111944977G>A"	""	"pathogenic"	""
"0000476137"	"0"	"50"	"2"	"112725746"	"112725746"	"subst"	"3.24847E-5"	"02591"	"MERTK_000107"	"g.112725746C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs369655379"	"0"	""	""	"g.111968169C>T"	""	"VUS"	""
"0000476138"	"0"	"50"	"2"	"112725747"	"112725747"	"subst"	"0.00960726"	"02591"	"MERTK_000108"	"g.112725747G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs34072093"	"0"	""	""	"g.111968170G>A"	""	"VUS"	""
"0000476139"	"0"	"50"	"2"	"112732891"	"112732891"	"subst"	"0.000300498"	"02591"	"MERTK_000062"	"g.112732891A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs34943572"	"0"	""	""	"g.111975314A>G"	""	"VUS"	""
"0000476140"	"0"	"50"	"2"	"112732894"	"112732894"	"subst"	"0"	"02591"	"MERTK_000109"	"g.112732894G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111975317G>A"	""	"VUS"	""
"0000476141"	"0"	"50"	"2"	"112740503"	"112740503"	"subst"	"8.12236E-6"	"02591"	"MERTK_000110"	"g.112740503C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs3761698"	"0"	""	""	"g.111982926C>T"	""	"VUS"	""
"0000476142"	"0"	"50"	"2"	"112740506"	"112740506"	"subst"	"0"	"02591"	"MERTK_000111"	"g.112740506A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111982929A>G"	""	"VUS"	""
"0000476143"	"0"	"50"	"2"	"112740556"	"112740556"	"subst"	"0.000186835"	"02591"	"MERTK_000112"	"g.112740556A>G"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs555016686"	"0"	""	""	"g.111982979A>G"	""	"VUS"	""
"0000476144"	"0"	"50"	"2"	"112751865"	"112751865"	"subst"	"2.03191E-5"	"02591"	"MERTK_000113"	"g.112751865G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs202242962"	"0"	""	""	"g.111994288G>A"	""	"VUS"	""
"0000476145"	"0"	"50"	"2"	"112751889"	"112751889"	"subst"	"4.06286E-6"	"02591"	"MERTK_000114"	"g.112751889A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111994312A>G"	""	"VUS"	""
"0000476146"	"0"	"10"	"2"	"112751928"	"112751928"	"subst"	"0.598295"	"02591"	"MERTK_000021"	"g.112751928G>A"	"424/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs7604639"	"0"	""	""	"g.111994351G>A"	""	"benign"	""
"0000476147"	"0"	"50"	"2"	"112751936"	"112751936"	"subst"	"8.12414E-6"	"02591"	"MERTK_000115"	"g.112751936G>T"	"7/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs79943145"	"0"	""	""	"g.111994359G>T"	""	"VUS"	""
"0000476148"	"0"	"50"	"2"	"112751972"	"112751972"	"subst"	"4.87488E-5"	"02591"	"MERTK_000069"	"g.112751972C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs781442827"	"0"	""	""	"g.111994395C>T"	""	"VUS"	""
"0000476149"	"0"	"50"	"2"	"112754939"	"112754939"	"subst"	"0"	"02591"	"MERTK_000116"	"g.112754939G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111997362G>A"	""	"VUS"	""
"0000476150"	"0"	"10"	"2"	"112755001"	"112755001"	"subst"	"0.598436"	"02591"	"MERTK_000036"	"g.112755001A>G"	"424/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs2230515"	"0"	""	""	"g.111997424A>G"	""	"benign"	""
"0000476151"	"0"	"50"	"2"	"112758855"	"112758855"	"subst"	"4.06246E-5"	"02591"	"MERTK_000117"	"g.112758855A>G"	"5/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs753090513"	"0"	""	""	"g.112001278A>G"	""	"VUS"	""
"0000476152"	"0"	"50"	"2"	"112767615"	"112767615"	"subst"	"4.06151E-6"	"02591"	"MERTK_000118"	"g.112767615T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs370309420"	"0"	""	""	"g.112010038T>C"	""	"VUS"	""
"0000476153"	"0"	"90"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"02591"	"MERTK_000033"	"g.112777089C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112019512C>T"	""	"pathogenic"	""
"0000476154"	"0"	"50"	"2"	"112779018"	"112779018"	"subst"	"5.28563E-5"	"02591"	"MERTK_000119"	"g.112779018G>C"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs142721656"	"0"	""	""	"g.112021441G>C"	""	"VUS"	""
"0000476155"	"0"	"50"	"2"	"112779082"	"112779082"	"subst"	"1.21957E-5"	"02591"	"MERTK_000120"	"g.112779082G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs370526555"	"0"	""	""	"g.112021505G>A"	""	"VUS"	""
"0000476156"	"0"	"50"	"2"	"112779865"	"112779865"	"subst"	"0"	"02591"	"MERTK_000121"	"g.112779865G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112022288G>T"	""	"VUS"	""
"0000476157"	"0"	"50"	"2"	"112779920"	"112779920"	"subst"	"0.000410126"	"02591"	"MERTK_000122"	"g.112779920A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs141361084"	"0"	""	""	"g.112022343A>G"	""	"VUS"	""
"0000476158"	"0"	"50"	"2"	"112785959"	"112785959"	"subst"	"0"	"02591"	"MERTK_000123"	"g.112785959G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112028382G>A"	""	"VUS"	""
"0000476159"	"0"	"10"	"2"	"112786049"	"112786049"	"subst"	"0.0450543"	"02591"	"MERTK_000124"	"g.112786049G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs2230517"	"0"	""	""	"g.112028472G>A"	""	"benign"	""
"0000476160"	"0"	"50"	"2"	"112786166"	"112786166"	"subst"	"1.21863E-5"	"02591"	"MERTK_000125"	"g.112786166C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs758693335"	"0"	""	""	"g.112028589C>T"	""	"VUS"	""
"0000477448"	"3"	"10"	"2"	"112686988"	"112686988"	"subst"	"0.231068"	"02591"	"MERTK_000009"	"g.112686988G>A"	"16/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs13027171"	"0"	""	""	"g.111929411G>A"	""	"benign"	""
"0000477449"	"3"	"50"	"2"	"112740556"	"112740556"	"subst"	"0.000186835"	"02591"	"MERTK_000112"	"g.112740556A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs555016686"	"0"	""	""	"g.111982979A>G"	""	"VUS"	""
"0000477450"	"3"	"10"	"2"	"112751928"	"112751928"	"subst"	"0.598295"	"02591"	"MERTK_000021"	"g.112751928G>A"	"61/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs7604639"	"0"	""	""	"g.111994351G>A"	""	"benign"	""
"0000477451"	"3"	"10"	"2"	"112755001"	"112755001"	"subst"	"0.598436"	"02591"	"MERTK_000036"	"g.112755001A>G"	"61/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs2230515"	"0"	""	""	"g.111997424A>G"	""	"benign"	""
"0000478804"	"0"	"90"	"2"	"112766043"	"112766043"	"subst"	"5.68639E-5"	"01807"	"MERTK_000082"	"g.112766043C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.112008466C>T"	""	"pathogenic"	""
"0000478805"	"0"	"90"	"2"	"112779029"	"112779029"	"subst"	"4.06593E-6"	"01807"	"MERTK_000126"	"g.112779029G>A"	""	""	""	""	"variant classification not explained by submitter"	"Unknown"	""	""	"0"	""	""	"g.112021452G>A"	""	"pathogenic"	""
"0000487568"	"3"	"70"	"2"	"112785972"	"112785972"	"subst"	"1.2187E-5"	"03335"	"MERTK_000127"	"g.112785972G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.112028395G>A"	""	"pathogenic (recessive)"	""
"0000508959"	"0"	"10"	"2"	"112686737"	"112686737"	"subst"	"0.00190897"	"02330"	"MERTK_000007"	"g.112686737A>G"	""	""	""	"MERTK(NM_006343.2):c.102A>G (p.L34=), MERTK(NM_006343.3):c.102A>G (p.L34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111929160A>G"	""	"benign"	""
"0000508960"	"0"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"02330"	"MERTK_000051"	"g.112686980C>G"	""	""	""	"MERTK(NM_006343.3):c.345C>G (p.C115W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111929403C>G"	""	"likely pathogenic"	""
"0000508961"	"0"	"50"	"2"	"112702607"	"112702607"	"subst"	"0.00011382"	"01943"	"MERTK_000128"	"g.112702607G>A"	""	""	""	"MERTK(NM_006343.2):c.553G>A (p.V185M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111945030G>A"	""	"VUS"	""
"0000508962"	"0"	"30"	"2"	"112705056"	"112705056"	"subst"	"3.24952E-5"	"02330"	"MERTK_000129"	"g.112705056G>A"	""	""	""	"MERTK(NM_006343.3):c.669G>A (p.P223=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111947479G>A"	""	"likely benign"	""
"0000508963"	"0"	"10"	"2"	"112705157"	"112705157"	"subst"	"0.587389"	"02325"	"MERTK_000130"	"g.112705157T>C"	""	""	""	"MERTK(NM_006343.3):c.757+13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111947580T>C"	""	"benign"	""
"0000508964"	"0"	"10"	"2"	"112725699"	"112725700"	"ins"	"0"	"02330"	"MERTK_000131"	"g.112725699_112725700insGTATGT"	""	""	""	"MERTK(NM_006343.3):c.845-15_845-14insGTATGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111968122_111968123insGTATGT"	""	"benign"	""
"0000508965"	"0"	"30"	"2"	"112732863"	"112732863"	"dup"	"0"	"01943"	"MERTK_000132"	"g.112732863dup"	""	""	""	"MERTK(NM_006343.2):c.961-3dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111975286dup"	""	"likely benign"	""
"0000508966"	"0"	"50"	"2"	"112732963"	"112732963"	"subst"	"2.84292E-5"	"02330"	"MERTK_000133"	"g.112732963C>T"	""	""	""	"MERTK(NM_006343.3):c.1058C>T (p.A353V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111975386C>T"	""	"VUS"	""
"0000508967"	"0"	"90"	"2"	"112740453"	"112740453"	"dup"	"0"	"02330"	"MERTK_000031"	"g.112740453dup"	""	""	""	"MERTK(NM_006343.3):c.1179dupT (p.L394Sfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111982876dup"	""	"pathogenic"	""
"0000508968"	"0"	"30"	"2"	"112740490"	"112740490"	"subst"	"3.65485E-5"	"01943"	"MERTK_000134"	"g.112740490A>G"	""	""	""	"MERTK(NM_006343.2):c.1216A>G (p.M406V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111982913A>G"	""	"likely benign"	""
"0000508969"	"0"	"70"	"2"	"112740572"	"112740572"	"dup"	"0"	"02330"	"MERTK_000135"	"g.112740572dup"	""	""	""	"MERTK(NM_006343.3):c.1296+2dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111982995dup"	""	"likely pathogenic"	""
"0000508970"	"0"	"10"	"2"	"112751884"	"112751884"	"subst"	"0.00161292"	"01943"	"MERTK_000020"	"g.112751884A>G"	""	""	""	"MERTK(NM_006343.2):c.1353A>G (p.Q451=), MERTK(NM_006343.3):c.1353A>G (p.Q451=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111994307A>G"	""	"benign"	""
"0000508971"	"0"	"10"	"2"	"112758791"	"112758791"	"subst"	"0.00177118"	"02330"	"MERTK_000136"	"g.112758791G>A"	""	""	""	"MERTK(NM_006343.3):c.1618G>A (p.E540K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112001214G>A"	""	"benign"	""
"0000508972"	"0"	"10"	"2"	"112767548"	"112767548"	"subst"	"0.00146617"	"02330"	"MERTK_000137"	"g.112767548C>G"	""	""	""	"MERTK(NM_006343.3):c.1984C>G (p.Q662E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112009971C>G"	""	"benign"	""
"0000508973"	"0"	"30"	"2"	"112767653"	"112767653"	"del"	"0.000796334"	"01943"	"MERTK_000138"	"g.112767653del"	""	""	""	"MERTK(NM_006343.2):c.2079+10delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112010076del"	""	"likely benign"	""
"0000508974"	"0"	"50"	"2"	"112777090"	"112777090"	"subst"	"0"	"02330"	"MERTK_000089"	"g.112777090G>A"	""	""	""	"MERTK(NM_006343.3):c.2180G>A (p.R727Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112019513G>A"	""	"VUS"	""
"0000508975"	"0"	"50"	"2"	"112779010"	"112779010"	"subst"	"4.47242E-5"	"01943"	"MERTK_000139"	"g.112779010A>T"	""	""	""	"MERTK(NM_006343.2):c.2201A>T (p.D734V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112021433A>T"	""	"VUS"	""
"0000508976"	"0"	"50"	"2"	"112779028"	"112779028"	"subst"	"4.06597E-6"	"02327"	"MERTK_000092"	"g.112779028C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112021451C>T"	""	"VUS"	""
"0000508977"	"0"	"50"	"2"	"112779917"	"112779917"	"subst"	"0"	"02330"	"MERTK_000140"	"g.112779917A>T"	""	""	""	"MERTK(NM_006343.3):c.2432A>T (p.D811V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112022340A>T"	""	"VUS"	""
"0000508978"	"0"	"50"	"2"	"112779920"	"112779920"	"subst"	"0.000410126"	"02330"	"MERTK_000122"	"g.112779920A>G"	""	""	""	"MERTK(NM_006343.3):c.2435A>G (p.Y812C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112022343A>G"	""	"VUS"	""
"0000508979"	"0"	"30"	"2"	"112786034"	"112786034"	"subst"	"0.00188431"	"02330"	"MERTK_000103"	"g.112786034C>T"	""	""	""	"MERTK(NM_006343.2):c.2593C>T (p.R865W), MERTK(NM_006343.3):c.2593C>T (p.R865W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112028457C>T"	""	"likely benign"	""
"0000508980"	"0"	"30"	"2"	"112786034"	"112786034"	"subst"	"0.00188431"	"01943"	"MERTK_000103"	"g.112786034C>T"	""	""	""	"MERTK(NM_006343.2):c.2593C>T (p.R865W), MERTK(NM_006343.3):c.2593C>T (p.R865W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.112028457C>T"	""	"likely benign"	""
"0000606057"	"0"	"50"	"2"	"112732963"	"112732963"	"subst"	"2.84292E-5"	"02327"	"MERTK_000133"	"g.112732963C>T"	""	""	""	"MERTK(NM_006343.3):c.1058C>T (p.A353V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111975386C>T"	""	"VUS"	""
"0000620718"	"0"	"50"	"2"	"112740535"	"112740535"	"subst"	"0.000913832"	"01943"	"MERTK_000018"	"g.112740535C>T"	""	""	""	"MERTK(NM_006343.2):c.1261C>T (p.R421W), MERTK(NM_006343.3):c.1261C>T (p.R421W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111982958C>T"	""	"VUS"	""
"0000650088"	"1"	"30"	"2"	"112786049"	"112786049"	"subst"	"0.0450543"	"03575"	"MERTK_000124"	"g.112786049G>A"	"101/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"101 heterozygous; {DB:CLININrs2230517}"	"Germline"	""	"rs2230517"	"0"	""	""	"g.112028472G>A"	""	"likely benign"	""
"0000666148"	"3"	"70"	"2"	"112758862"	"112758868"	"delins"	"0"	"01807"	"MERTK_000141"	"g.112758862_112758868delinsATATTA"	""	""	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000669500"	"3"	"30"	"2"	"112786049"	"112786049"	"subst"	"0.0450543"	"03575"	"MERTK_000124"	"g.112786049G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs2230517}"	"Germline"	""	"rs2230517"	"0"	""	""	"g.112028472G>A"	""	"likely benign"	""
"0000675994"	"0"	"30"	"2"	"112702609"	"112702609"	"subst"	"0"	"01943"	"MERTK_000142"	"g.112702609G>T"	""	""	""	"MERTK(NM_006343.2):c.555G>T (p.V185=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675995"	"0"	"70"	"2"	"112785971"	"112785971"	"subst"	"8.12282E-6"	"02327"	"MERTK_000101"	"g.112785971C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000683406"	"3"	"50"	"2"	"112686733"	"112686733"	"subst"	"9.74896E-5"	"00006"	"MERTK_000143"	"g.112686733C>T"	""	"{PMID:Al-Bdour 2020:32587456}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000684537"	"1"	"70"	"2"	"112767613"	"112767616"	"del"	"0"	"00004"	"MERTK_000144"	"g.112767613_112767616del"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112010036_112010039del"	""	"likely pathogenic"	""
"0000684538"	"1"	"70"	"2"	"112785971"	"112785971"	"subst"	"8.12282E-6"	"00004"	"MERTK_000101"	"g.112785971C>T"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112028394C>T"	""	"likely pathogenic"	""
"0000684633"	"3"	"70"	"2"	"112767613"	"112767616"	"del"	"0"	"00004"	"MERTK_000144"	"g.112767613_112767616del"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112010036_112010039del"	""	"likely pathogenic (recessive)"	""
"0000684657"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00004"	"MERTK_000005"	"g.112777100G>T"	"6/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic (recessive)"	""
"0000685277"	"0"	"90"	"2"	"0"	"0"	""	"0"	"00004"	"SNRNP200_000007"	"g.?"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"NM_006343.2:c.62_3697del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685278"	"0"	"90"	"2"	"112777074"	"112777074"	"subst"	"1.21838E-5"	"00004"	"MERTK_000035"	"g.112777074C>T"	"5/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000688295"	"0"	"50"	"2"	"112732891"	"112732891"	"subst"	"0.000300498"	"01943"	"MERTK_000062"	"g.112732891A>G"	""	""	""	"MERTK(NM_006343.2):c.986A>G (p.N329S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000703768"	"3"	"90"	"2"	"112758776"	"112758776"	"subst"	"0"	"00008"	"MERTK_000073"	"g.112758776A>G"	""	"{PMID:Thompson 2002:11727200}"	""	"IVS10-2a>g"	""	"Uniparental disomy, paternal allele"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703769"	"3"	"90"	"2"	"112758776"	"112758776"	"subst"	"0"	"00008"	"MERTK_000073"	"g.112758776A>G"	""	"{PMID:Thompson 2002:11727200}"	""	"IVS10-2a>g"	""	"Uniparental disomy, paternal allele"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000710223"	"3"	"90"	"2"	"112785972"	"112785972"	"subst"	"1.2187E-5"	"00006"	"MERTK_000127"	"g.112785972G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PS*, PM1, PM2, PM5, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.112028395G>A"	""	"pathogenic"	"ACMG"
"0000713353"	"0"	"90"	"2"	"112777074"	"112777074"	"subst"	"1.21838E-5"	"00000"	"MERTK_000035"	"g.112777074C>T"	""	"{PMID:Carss 2017:28041643}"	""	"2:112777074C>T ENST00000295408.4:c.2164C>T (Arg722Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713654"	"0"	"90"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"00000"	"MERTK_000145"	"g.112777089C>G"	""	"{PMID:Carss 2017:28041643}"	""	"2:112777089C>G ENST00000295408.4:c.2179C>G (Arg727Gly)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713895"	"0"	"90"	"2"	"112777090"	"112777090"	"subst"	"0"	"00000"	"MERTK_000089"	"g.112777090G>A"	""	"{PMID:Carss 2017:28041643}"	""	"2:112777090G>A ENST00000295408.4:c.2180G>A (Arg727Gln)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000717798"	"0"	"70"	"2"	"112656315"	"112656315"	"subst"	"0"	"02327"	"MERTK_000041"	"g.112656315G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000717799"	"0"	"30"	"2"	"112686742"	"112686742"	"subst"	"0.000239658"	"01943"	"MERTK_000008"	"g.112686742C>T"	""	""	""	"MERTK(NM_006343.2):c.107C>T (p.P36L), MERTK(NM_006343.3):c.107C>T (p.P36L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717800"	"0"	"50"	"2"	"112733049"	"112733049"	"subst"	"0"	"01943"	"MERTK_000147"	"g.112733049G>T"	""	""	""	"MERTK(NM_006343.2):c.1144G>T (p.A382S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717801"	"0"	"30"	"2"	"112751871"	"112751871"	"subst"	"2.03181E-5"	"01943"	"MERTK_000019"	"g.112751871G>A"	""	""	""	"MERTK(NM_006343.2):c.1340G>A (p.R447Q), MERTK(NM_006343.3):c.1340G>A (p.R447Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717802"	"0"	"50"	"2"	"112761483"	"112761483"	"subst"	"0"	"02327"	"MERTK_000148"	"g.112761483G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717803"	"0"	"50"	"2"	"112779859"	"112779859"	"subst"	"0"	"01943"	"MERTK_000151"	"g.112779859G>A"	""	""	""	"MERTK(NM_006343.2):c.2374G>A (p.E792K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000730618"	"1"	"90"	"2"	"112761495"	"112761495"	"subst"	"4.06091E-6"	"00000"	"MERTK_000149"	"g.112761495G>C"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112003918G>C"	""	"pathogenic (recessive)"	""
"0000730619"	"1"	"90"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Birtel 2018:29555955}"	""	"deletion ex2-19"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000730793"	"2"	"90"	"2"	"112779845"	"112779845"	"subst"	"0"	"00000"	"MERTK_000150"	"g.112779845G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112022268G>A"	""	"pathogenic (recessive)"	""
"0000730794"	"2"	"90"	"2"	"112687004"	"112687004"	"subst"	"0"	"00000"	"MERTK_000146"	"g.112687004C>G"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929427C>G"	""	"pathogenic (recessive)"	""
"0000731493"	"1"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929403C>G"	""	"pathogenic (recessive)"	""
"0000731494"	"1"	"50"	"2"	"112705063"	"112705063"	"subst"	"2.84319E-5"	"00000"	"MERTK_000152"	"g.112705063C>A"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111947486C>A"	""	"VUS"	""
"0000731516"	"2"	"70"	"2"	"112779111"	"112779111"	"subst"	"2.44545E-5"	"00000"	"MERTK_000096"	"g.112779111G>A"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021534G>A"	""	"pathogenic (recessive)"	""
"0000731520"	"2"	"70"	"2"	"112779967"	"112779967"	"subst"	"4.06078E-6"	"00000"	"MERTK_000153"	"g.112779967G>T"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112022390G>T"	""	"pathogenic (recessive)"	""
"0000732465"	"0"	"50"	"2"	"112656376"	"112656376"	"subst"	"0.00027997"	"00000"	"MERTK_000006"	"g.112656376G>C"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111898799G>C"	""	"VUS"	""
"0000733081"	"3"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929403C>G"	""	"likely pathogenic"	""
"0000733082"	"1"	"70"	"2"	"112777073"	"112777073"	"subst"	"4.06124E-6"	"00000"	"MERTK_000087"	"g.112777073T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112019496T>A"	""	"likely pathogenic"	""
"0000733496"	"1"	"70"	"2"	"112751935"	"112751935"	"del"	"0"	"00000"	"MERTK_000156"	"g.112751935del"	""	"{PMID:Stone 2017:28559085}"	""	"1404delA"	""	"Germline"	""	""	"0"	""	""	"g.111994358del"	""	"likely pathogenic"	""
"0000733541"	"2"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Stone 2017:28559085}"	""	"del 13 genes incl. MERTK"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733870"	"2"	"70"	"2"	"112687071"	"112687072"	"del"	"0"	"00000"	"MERTK_000155"	"g.112687071_112687072del"	""	"{PMID:Stone 2017:28559085}"	""	"433_434delAC"	""	"Germline"	""	""	"0"	""	""	"g.111929494_111929495del"	""	"likely pathogenic"	""
"0000734344"	"3"	"70"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Huang 2017:28512305}"	""	"296_297delCA"	""	"Unknown"	""	""	"0"	""	""	"g.111929354_111929355del"	""	"likely pathogenic"	""
"0000736071"	"3"	"70"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Huang 2018:29641573}"	""	"c.291_292delAC"	""	"Germline"	""	""	"0"	""	""	"g.111929354_111929355del"	""	"likely pathogenic"	""
"0000759900"	"11"	"50"	"2"	"112656332"	"112656332"	"subst"	"0"	"00006"	"MERTK_000157"	"g.112656332C>T"	""	"{PMID:Sundaramurthy 2016:27383656}"	""	""	""	"Germline"	"no"	""	"0"	""	""	""	""	"VUS"	""
"0000759989"	"0"	"50"	"2"	"112722801"	"112722801"	"subst"	"0.000406237"	"00000"	"MERTK_000014"	"g.112722801C>G"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111965224C>G"	""	"VUS"	""
"0000760603"	"1"	"90"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Khan 2017:27160483}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929403C>G"	""	"pathogenic"	""
"0000760612"	"2"	"90"	"2"	"112705021"	"112705021"	"subst"	"0"	"00000"	"MERTK_000054"	"g.112705021A>C"	""	"{PMID:Khan 2017:27160483}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111947444A>C"	""	"pathogenic"	""
"0000784128"	"0"	"70"	"2"	"112722824"	"112722824"	"subst"	"6.09335E-5"	"00000"	"MERTK_000059"	"g.112722824G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs140065278"	"0"	""	""	"g.111965247G>A"	""	"likely pathogenic (recessive)"	""
"0000784156"	"0"	"50"	"2"	"112754778"	"112754781"	"dup"	"0"	"00000"	"MERTK_000159"	"g.112754778_112754781dup"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.1451-123_1451-120dup4"	""	"Germline"	""	""	"0"	""	""	"g.111997201_111997204dup"	""	"VUS"	""
"0000784413"	"0"	"70"	"2"	"112779878"	"112779878"	"subst"	"4.06075E-6"	"00000"	"MERTK_000161"	"g.112779878T>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112022301T>A"	""	"likely pathogenic (recessive)"	""
"0000784524"	"0"	"50"	"2"	"112767521"	"112767521"	"dup"	"0"	"00000"	"MERTK_000160"	"g.112767521dup"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.1961-4dupT"	""	"Germline"	""	""	"0"	""	""	"g.112009944dup"	""	"VUS"	""
"0000784527"	"0"	"50"	"2"	"112754778"	"112754781"	"dup"	"0"	"00000"	"MERTK_000159"	"g.112754778_112754781dup"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.1451-123_1451-120dup4"	""	"Germline"	""	""	"0"	""	""	"g.111997201_111997204dup"	""	"VUS"	""
"0000784531"	"0"	"50"	"2"	"112754778"	"112754781"	"dup"	"0"	"00000"	"MERTK_000159"	"g.112754778_112754781dup"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.1451-123_1451-120dup4"	""	"Germline"	""	""	"0"	""	""	"g.111997201_111997204dup"	""	"VUS"	""
"0000785396"	"3"	"90"	"2"	"112740453"	"112740453"	"dup"	"0"	"00000"	"MERTK_000031"	"g.112740453dup"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111982876dup"	""	"pathogenic (recessive)"	""
"0000785571"	"0"	"50"	"2"	"112702593"	"112702597"	"del"	"4.06408E-6"	"00000"	"MERTK_000158"	"g.112702593_112702597del"	""	"{PMID:Liu 2015:25611614}"	""	""	"variant found in controls"	"Germline"	"no"	""	"0"	""	""	"g.111945016_111945020del"	""	"VUS"	""
"0000786301"	"3"	"90"	"2"	"112751826"	"112751826"	"subst"	"0"	"00000"	"MERTK_000066"	"g.112751826A>G"	""	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111994249A>G"	""	"pathogenic"	""
"0000787636"	"3"	"70"	"2"	"112760668"	"112760668"	"subst"	"4.0623E-6"	"00000"	"MERTK_000075"	"g.112760668G>A"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.112003091G>A"	""	"likely pathogenic"	""
"0000788103"	"3"	"90"	"2"	"112686860"	"112686860"	"del"	"4.06124E-6"	"00000"	"MERTK_000047"	"g.112686860del"	""	"{PMID:Oishi 2014:25324289}"	""	"225delA"	""	"Germline"	""	""	"0"	""	""	"g.111929283del"	""	"pathogenic"	""
"0000788104"	"1"	"90"	"2"	"112686860"	"112686860"	"del"	"4.06124E-6"	"00000"	"MERTK_000047"	"g.112686860del"	""	"{PMID:Oishi 2014:25324289}"	""	"225delA"	""	"Germline"	""	""	"0"	""	""	"g.111929283del"	""	"pathogenic"	""
"0000788165"	"2"	"90"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"00000"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111994404G>A"	""	"pathogenic"	""
"0000788502"	"0"	"50"	"2"	"112786151"	"112786156"	"del"	"3.24929E-5"	"00000"	"MERTK_000162"	"g.112786151_112786156del"	""	"{PMID:Katagiri 2014:25268133}"	""	"2710_2715del"	""	"Germline"	""	""	"0"	""	""	"g.112028574_112028579del"	""	"VUS"	""
"0000790450"	"0"	"50"	"2"	"112722783"	"112722783"	"subst"	"0.00030881"	"00000"	"MERTK_000163"	"g.112722783C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs35252762"	"0"	""	""	"g.111965206C>A"	""	"VUS"	""
"0000790453"	"0"	"50"	"2"	"112786167"	"112786167"	"subst"	"6.49978E-5"	"00000"	"MERTK_000104"	"g.112786167G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs149131360"	"0"	""	""	"g.112028590G>A"	""	"VUS"	""
"0000790471"	"0"	"50"	"2"	"112779920"	"112779920"	"subst"	"6.9031E-5"	"00000"	"MERTK_000099"	"g.112779920A>C"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112022343A>C"	""	"VUS"	""
"0000790506"	"0"	"50"	"2"	"112779845"	"112779845"	"subst"	"0"	"00000"	"MERTK_000150"	"g.112779845G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112022268G>A"	""	"VUS"	""
"0000790522"	"0"	"50"	"2"	"112767548"	"112767548"	"subst"	"0.00146617"	"00000"	"MERTK_000137"	"g.112767548C>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs56209758"	"0"	""	""	"g.112009971C>G"	""	"VUS"	""
"0000791149"	"0"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111929403C>G"	""	"likely pathogenic"	"ACMG"
"0000791171"	"11"	"90"	"2"	"112686714"	"112686714"	"subst"	"0"	"00000"	"MERTK_000164"	"g.112686714G>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.111929137G>T"	""	"pathogenic"	"ACMG"
"0000791172"	"11"	"90"	"2"	"112686714"	"112686714"	"subst"	"0"	"00000"	"MERTK_000164"	"g.112686714G>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.111929137G>T"	""	"pathogenic"	"ACMG"
"0000791249"	"21"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.111929403C>G"	""	"likely pathogenic"	"ACMG"
"0000791250"	"21"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.111929403C>G"	""	"likely pathogenic"	"ACMG"
"0000792207"	"3"	"90"	"2"	"112767525"	"112767525"	"subst"	"0"	"00000"	"MERTK_000165"	"g.112767525G>C"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"p.G654AfsX41"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792208"	"3"	"90"	"2"	"112767525"	"112767525"	"subst"	"0"	"00000"	"MERTK_000165"	"g.112767525G>C"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"p.G654AfsX41"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792216"	"3"	"90"	"2"	"112785926"	"112785926"	"subst"	"0"	"00000"	"MERTK_000100"	"g.112785926A>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.2487-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792217"	"3"	"90"	"2"	"112785926"	"112785926"	"subst"	"0"	"00000"	"MERTK_000100"	"g.112785926A>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.2487-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792218"	"3"	"90"	"2"	"112785926"	"112785926"	"subst"	"0"	"00000"	"MERTK_000100"	"g.112785926A>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.2487-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792219"	"3"	"90"	"2"	"112785926"	"112785926"	"subst"	"0"	"00000"	"MERTK_000100"	"g.112785926A>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.2487-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792220"	"3"	"90"	"2"	"112785926"	"112785926"	"subst"	"0"	"00000"	"MERTK_000100"	"g.112785926A>G"	""	"{PMID: Siemiatkowska 2011:22128245}"	""	"c.2487-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793725"	"3"	"50"	"2"	"112740453"	"112740453"	"dup"	"0"	"00000"	"MERTK_000031"	"g.112740453dup"	""	"{PMID:Collin-2011:21217109}"	""	"c.1179dup"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000793726"	"3"	"70"	"2"	"112785972"	"112785972"	"subst"	"0"	"00000"	"MERTK_000102"	"g.112785972G>C"	"0/360 controls"	"{PMID:Collin-2011:21217109}"	""	"c.2531G>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793961"	"3"	"70"	"2"	"112779003"	"112779003"	"subst"	"0"	"00000"	"MERTK_000090"	"g.112779003C>T"	""	"{PMID:O\'Sullivan-2012:22581970}"	""	"c.[2194C>T]+[2194C>T]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794333"	"3"	"90"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Wang 2018:30029497}"	""	"NM_006343.2:c.296_297del, NP_006334.2:p.(Thr99SerfsTer8), NC_000002.11:g.112686931_112686932del"	""	"Germline"	"?"	""	"0"	""	""	"g.111929354_111929355del"	""	"pathogenic"	"ACMG"
"0000794733"	"3"	"90"	"2"	"112751866"	"112751867"	"del"	"0"	"00000"	"MERTK_000068"	"g.112751866_112751867del"	""	"{PMID:Patel 2018:30054919}"	""	"NM_006343.2:c.1335_1336delAG; p.(Ala446Serfs*28)"	""	"Germline"	"yes"	""	"0"	""	""	"g.111994289_111994290del"	""	"pathogenic (recessive)"	"ACMG"
"0000794971"	"3"	"50"	"2"	"112751866"	"112751867"	"del"	"0"	"00000"	"MERTK_000068"	"g.112751866_112751867del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.1335_1336del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000796678"	"0"	"90"	"2"	"112754979"	"112754979"	"del"	"0"	"00000"	"MERTK_000071"	"g.112754979del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1530delT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796679"	"0"	"90"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.345C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796723"	"3"	"90"	"2"	"112760764"	"112760764"	"subst"	"0"	"00000"	"MERTK_000077"	"g.112760764G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1786G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796743"	"0"	"90"	"2"	"112760722"	"112760729"	"del"	"0"	"00000"	"MERTK_000166"	"g.112760722_112760729del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1744_1751"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796744"	"0"	"90"	"2"	"112760722"	"112760729"	"delins"	"0"	"00000"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1744_1751delinsT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796755"	"3"	"90"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"00000"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1450G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796778"	"0"	"70"	"2"	"112779920"	"112779920"	"subst"	"6.9031E-5"	"00000"	"MERTK_000099"	"g.112779920A>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2435A>C"	""	"Germline"	""	"rs141361084"	"0"	""	""	""	""	"likely pathogenic"	""
"0000797216"	"3"	"70"	"2"	"112704970"	"112704970"	"subst"	"0"	"00000"	"MERTK_000167"	"g.112704970G>T"	""	"{PMID:Ravesh 2018:30416334}"	""	"c.584-1G>T;p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.111947393G>T"	""	"likely pathogenic"	"ACMG"
"0000797691"	"3"	"70"	"2"	"112686980"	"112686980"	"subst"	"4.06164E-5"	"00000"	"MERTK_000051"	"g.112686980C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.345C>G, p.(Cys115Trp), c.345C>G, p.(Cys115Trp)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.111929403C>G"	""	"likely pathogenic"	"ACMG"
"0000797692"	"3"	"90"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.(?_-1) _(1144+1_1145-1)del c.(?_-1) _(1144+1_1145-1)del"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000797693"	"3"	"70"	"2"	"112725830"	"112725830"	"subst"	"0"	"00000"	"MERTK_000169"	"g.112725830G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.960+1G>A, p.(?), c.960+1G>A, p.(?)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.111968253G>A"	""	"likely pathogenic"	"ACMG"
"0000797696"	"0"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.757+1G>A, p.(?) c.(?_-1) _(1144+1_1145-1)del"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000797697"	"0"	"70"	"2"	"112705145"	"112705145"	"subst"	"0"	"00000"	"MERTK_000168"	"g.112705145G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.757+1G>A, p.(?), c.(?_-1), _(1144+1_1145-1), del"	""	"Germline"	"?"	""	"0"	""	""	"g.111947568G>A"	""	"likely pathogenic"	"ACMG"
"0000797698"	"3"	"70"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"00000"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.1450G>A, p.(Gly484Ser), c.1450G>A, p.(Gly484Ser)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.111994404G>A"	""	"likely pathogenic"	"ACMG"
"0000798027"	"3"	"50"	"2"	"112779114"	"112779114"	"subst"	"0.000329242"	"00000"	"MERTK_000171"	"g.112779114A>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.2060G>T, p.(Arg687Leu), c.2060G>T, p.(Arg687Leu), c.2305A>G, p.(Ile769Val), c.2305A>G, p.(Ile769Val)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.112021537A>G"	""	"VUS"	"ACMG"
"0000798028"	"3"	"50"	"2"	"112767624"	"112767624"	"subst"	"0"	"00000"	"MERTK_000170"	"g.112767624G>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.2060G>T, p.(Arg687Leu), c.2060G>T, p.(Arg687Leu), c.2305A>G, p.(Ile769Val), c.2305A>G, p.(Ile769Val)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.112010047G>T"	""	"VUS"	"ACMG"
"0000798029"	"0"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MERTK c.(61+1_62-1)_(482+1_483-1)dup"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000799630"	"0"	"30"	"2"	"112686866"	"112686866"	"subst"	"0.000397989"	"02330"	"MERTK_000172"	"g.112686866C>T"	""	""	""	"MERTK(NM_006343.3):c.231C>T (p.N77=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799631"	"0"	"30"	"2"	"112702606"	"112702606"	"subst"	"2.03247E-5"	"02330"	"MERTK_000173"	"g.112702606C>A"	""	""	""	"MERTK(NM_006343.3):c.552C>A (p.I184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799632"	"0"	"50"	"2"	"112725746"	"112725746"	"subst"	"3.24847E-5"	"01943"	"MERTK_000107"	"g.112725746C>T"	""	""	""	"MERTK(NM_006343.2):c.877C>T (p.R293C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799633"	"0"	"30"	"2"	"112767521"	"112767521"	"dup"	"0"	"01943"	"MERTK_000160"	"g.112767521dup"	""	""	""	"MERTK(NM_006343.2):c.1961-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799634"	"0"	"70"	"2"	"112779029"	"112779029"	"subst"	"4.06593E-6"	"02327"	"MERTK_000126"	"g.112779029G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000799635"	"0"	"50"	"2"	"112786313"	"112786313"	"subst"	"0"	"01943"	"MERTK_000174"	"g.112786313C>T"	""	""	""	"MERTK(NM_006343.2):c.2872C>T (p.P958S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811430"	"3"	"70"	"2"	"112779023"	"112779023"	"del"	"0"	"00000"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.2214del  (p.Cys738Trpfs*32), Allele 2 c.2214del  (p.Cys738Trpfs*32)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112021446del"	""	"likely pathogenic"	""
"0000811431"	"3"	"70"	"2"	"112779023"	"112779023"	"del"	"0"	"00000"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.2214del  (p.Cys738Trpfs*32), Allele 2 c.2214del  (p.Cys738Trpfs*32)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112021446del"	""	"likely pathogenic"	""
"0000811432"	"3"	"70"	"2"	"112779023"	"112779023"	"del"	"0"	"00000"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.2214del  (p.Cys738Trpfs*32), Allele 2 c.2214del  (p.Cys738Trpfs*32)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112021446del"	""	"likely pathogenic"	""
"0000811433"	"3"	"70"	"2"	"112779023"	"112779023"	"del"	"0"	"00000"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.2214del  (p.Cys738Trpfs*32), Allele 2 c.2214del  (p.Cys738Trpfs*32)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112021446del"	""	"likely pathogenic"	""
"0000811839"	"0"	"70"	"4"	"112779018"	"112779018"	"subst"	"0"	"00000"	"MERTK_000119"	"g.112779018G>C"	""	"{PMID:Gao 2019:31054281}"	""	"c.2209G>C, p.Val737Leu"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.112021441G>C"	""	"likely pathogenic"	""
"0000811935"	"0"	"70"	"2"	"112687071"	"112687072"	"del"	"0"	"00000"	"MERTK_000155"	"g.112687071_112687072del"	""	"{PMID:Hariri 2018:31047384}"	""	"c.436_437delCA"	""	"Germline"	"?"	""	"0"	""	""	"g.111929494_111929495del"	""	"likely pathogenic"	""
"0000812016"	"0"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MERTK IVS16 c.2189+1G>T  p.(?)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000812017"	"0"	"70"	"2"	"111408390"	"113315808"	"del"	"0"	"00000"	"MERTK_000175"	"g.111408390_113315808del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"arr[hg19] 2q13(111408390-113315808) del"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.110650813_112558231del"	""	"likely pathogenic"	""
"0000812023"	"0"	"70"	"2"	"112786225"	"112786226"	"dup"	"0"	"00000"	"MERTK_000178"	"g.112786225_112786226dup"	""	"{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)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112028648_112028649dup"	""	"likely pathogenic"	""
"0000812115"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MERTK IVS16 c.2189+1G>T  p.(?), IVS16 c.2189+1G>T  p.(?)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000812266"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MERTK IVS16 c.2189+1G>T p.(?), IVS16 c.2189+1G>T p.(?)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000812484"	"3"	"70"	"2"	"112687025"	"112687025"	"subst"	"0"	"00000"	"MERTK_000002"	"g.112687025G>A"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.390G>A, p.(Trp130*)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.111929448G>A"	""	"likely pathogenic"	""
"0000812624"	"0"	"90"	"2"	"112785950"	"112785950"	"del"	"0"	"00000"	"MERTK_000177"	"g.112785950del"	""	"{PMID:Wang 2019:31106028}"	""	"c.2509del, p.(Trp837Glyfs*6)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.112028373del"	""	"pathogenic"	""
"0000812625"	"0"	"90"	"2"	"112686733"	"112686733"	"del"	"0"	"00000"	"MERTK_000176"	"g.112686733del"	""	"{PMID:Wang 2019:31106028}"	""	"c.98del, p.(Pro33Argfs*31)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.111929156del"	""	"pathogenic"	""
"0000813187"	"3"	"70"	"2"	"112751826"	"112751826"	"subst"	"0"	"00000"	"MERTK_000066"	"g.112751826A>G"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.1297-2A.G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813205"	"0"	"30"	"2"	"112687815"	"112687815"	"subst"	"0"	"00000"	"MERTK_000180"	"g.112687815T>C"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.482+698T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000813206"	"0"	"30"	"2"	"112688038"	"112688038"	"subst"	"0"	"00000"	"MERTK_000181"	"g.112688038G>C"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.482+921G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000813207"	"0"	"30"	"2"	"112705097"	"112705097"	"subst"	"0.000105599"	"00000"	"MERTK_000182"	"g.112705097G>A"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.710G>A"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely benign"	""
"0000813208"	"0"	"30"	"2"	"112779173"	"112779173"	"subst"	"0"	"00000"	"MERTK_000185"	"g.112779173T>A"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.2349+15T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000813209"	"0"	"30"	"2"	"112779820"	"112779820"	"subst"	"0"	"00000"	"MERTK_000186"	"g.112779820T>C"	""	"{PMID:González-del Pozo-2011:22164218}"	""	"c.2350-15T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000813655"	"1"	"90"	"2"	"112767643"	"112767643"	"subst"	"0"	"00000"	"MERTK_000184"	"g.112767643G>A"	""	"{PMID:Xu 2020:31630094}"	""	"MERTK NM_006343: g.111588G>A, c.2079G>A, p.K693K"	""	"Germline"	"yes"	""	"0"	""	""	"g.112010066G>A"	""	"pathogenic"	"ACMG"
"0000813711"	"0"	"90"	"2"	"112767540"	"112767540"	"del"	"0"	"00000"	"MERTK_000183"	"g.112767540del"	""	"{PMID:Xu 2020:31630094}"	""	"MERTK NM_006343: g.111485_111485delT, c.1976delT, p.M659Rfs11"	""	"Unknown"	"?"	""	"0"	""	""	"g.112009963del"	""	"pathogenic"	"ACMG"
"0000813750"	"2"	"90"	"2"	"112686984"	"112686987"	"del"	"0"	"00000"	"MERTK_000179"	"g.112686984_112686987del"	""	"{PMID:Xu 2020:31630094}"	""	"MERTK NM_006343: g.30926_30929delTCAA, c.346_349delTCAA, p.I117Vfs39"	""	"Germline"	"yes"	""	"0"	""	""	"g.111929407_111929410del"	""	"pathogenic"	"ACMG"
"0000814602"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:de Castro-Miró-2014:24516651}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814787"	"21"	"90"	"2"	"112725713"	"112725713"	"subst"	"0"	"00000"	"MERTK_000187"	"g.112725713G>A"	""	"{PMID:Dan 2020:31960602}"	""	"MERTK c.845-1G>A, -"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.111968136G>A"	""	"pathogenic"	"ACMG"
"0000814817"	"11"	"70"	"2"	"112740443"	"112740443"	"subst"	"0"	"00000"	"MERTK_000188"	"g.112740443T>A"	""	"{PMID:Dan 2020:31960602}"	""	"MERTK c.1169T>A, p.(Val390Asp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.111982866T>A"	""	"likely pathogenic"	"ACMG"
"0000815346"	"0"	"70"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"00000"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"MERTK:NM_006343 c.G1450A, p.G484S"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.111994404G>A"	""	"likely pathogenic"	"ACMG"
"0000815498"	"0"	"90"	"2"	"111371701"	"113132395"	"del"	"0"	"00000"	"ACOXL_000006"	"g.111371701_113132395del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"MERTK:NM_006343,"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.110614124_112374818del"	""	"pathogenic"	"ACMG"
"0000815568"	"0"	"50"	"2"	"112687071"	"112687071"	"subst"	"0"	"00000"	"MERTK_000189"	"g.112687071C>G"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"MERTK:NM_006343 c.C436G, p.Q146E"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.111929494C>G"	""	"VUS"	"ACMG"
"0000816063"	"0"	"70"	"2"	"112779000"	"112779971"	"del"	"0"	"00000"	"MERTK_000193"	"g.112779000_112779971del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"MERTK chr2:112779000_112779971del"	"range 659-971 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112021423_112022394del"	""	"likely pathogenic"	""
"0000816161"	"0"	"70"	"2"	"112702278"	"112787193"	"del"	"0"	"00000"	"MERTK_000192"	"g.112702278_112787193del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"MERTK chr2:112702277_112787192del"	"range 84915-116069 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111944701_112029616del"	""	"likely pathogenic"	""
"0000816165"	"0"	"70"	"2"	"112624327"	"112660635"	"del"	"0"	"00000"	"MERTK_000190"	"g.(?_112624327)_(112660635_?)del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chr2:112624327_112660635del"	"range 59-36308 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.(?_111866750)_(111903058_?)del"	""	"likely pathogenic"	""
"0000816465"	"3"	"90"	"2"	"112740571"	"112740571"	"subst"	"2.43726E-5"	"00000"	"MERTK_000065"	"g.112740571G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1296+1G>A"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111982994G>A"	""	"pathogenic"	""
"0000816470"	"0"	"90"	"2"	"112785971"	"112785971"	"subst"	"8.12282E-6"	"00000"	"MERTK_000101"	"g.112785971C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.2530C>T, p.Arg844Cys"	"Located at end of transcript, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112028394C>T"	""	"pathogenic"	""
"0000816746"	"3"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Jauregui 2020:32098976}"	""	"MERTK Partial deletion at 2q13 (77kb)"	"homozygous, partial deletion at 2q13 (77kb)"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000816747"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"MERTK c.2189+1G>T, p.(?)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000817316"	"3"	"70"	"2"	"111929283"	"111929283"	"del"	"0"	"00000"	"MERTK_000191"	"g.111929283del"	""	"{PMID:Sun 2020:32100970}"	""	"MERTK c.225delA, p.Thr75Thrfs4, homozygous"	"error in annotation: c.225delA causes p.(Gly76GlufsTer3), and not p.(Thr75Thrfs4)"	"Unknown"	"?"	""	"0"	""	""	"g.111929283del"	""	"likely pathogenic"	"ACMG"
"0000818932"	"0"	"70"	"2"	"112702532"	"112786446"	"del"	"0"	"00000"	"MERTK_000196"	"g.(?_112702532)_(112786446_?)del"	""	"{PMID:Ellingsford 2018:29074561}"	""	"del ex3-19"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818933"	"0"	"70"	"2"	"112686898"	"112686898"	"subst"	"4.46733E-5"	"00000"	"MERTK_000195"	"g.112686898C>T"	""	"{PMID:Ellingsford 2018:29074561}"	""	"c.263C>T p.(Ser88Leu)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818937"	"0"	"70"	"2"	"112656308"	"112733054"	"del"	"0"	"00000"	"MERTK_000194"	"g.(?_112656308)_(112733054_112740418)del"	""	"{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}"	""	"del ex1-7"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818938"	"0"	"70"	"2"	"112686898"	"112686898"	"subst"	"4.46733E-5"	"00000"	"MERTK_000195"	"g.112686898C>T"	""	"{PMID:Ellingsford 2018:29074561}"	""	"c.263C>T p.(Ser88Leu)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000819794"	"1"	"70"	"2"	"112732865"	"112732865"	"subst"	"0"	"00000"	"MERTK_000198"	"g.112732865G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.961-1G>T/p.?, variant 2: c.2360G>A/p.G787D"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111975288G>T"	""	"likely pathogenic"	""
"0000819943"	"1"	"70"	"2"	"112777090"	"112777090"	"subst"	"0"	"00000"	"MERTK_000089"	"g.112777090G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.2180G>A/p.R727Q, variant 2: c.2180G>A/p.R727Q"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112019513G>A"	""	"likely pathogenic"	""
"0000820018"	"1"	"70"	"2"	"112785948"	"112785948"	"subst"	"0"	"00000"	"MERTK_000199"	"g.112785948G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.2507G>A/p.C836Y, variant 2: c.2507G>A/p.C836Y"	"possibly solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.112028371G>A"	""	"likely pathogenic"	""
"0000820019"	"1"	"70"	"2"	"112785948"	"112785948"	"subst"	"0"	"00000"	"MERTK_000199"	"g.112785948G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.2507G>A/p.C836Y, variant 2: c.2507G>A/p.C836Y"	"possibly solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.112028371G>A"	""	"likely pathogenic"	""
"0000820063"	"1"	"70"	"2"	"112722856"	"112722856"	"dup"	"0"	"00000"	"MERTK_000197"	"g.112722856dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.844+2dup/p.?, variant 2: c.2360G>A/p.G787D"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111965279dup"	""	"likely pathogenic"	""
"0000820154"	"1"	"70"	"2"	"112758862"	"112758868"	"delins"	"0"	"00000"	"MERTK_000141"	"g.112758862_112758868delinsATATTA"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.1689_1690+5delinsATATTA/p.?, variant 2 :Deletion entire gene"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112001285_112001291delinsATATTA"	""	"likely pathogenic"	""
"0000820527"	"1"	"70"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"00000"	"MERTK_000033"	"g.112777089C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.2179C>T/p.R727*, variant 2: c.2179C>T/p.R727*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112019512C>T"	""	"likely pathogenic"	""
"0000820723"	"1"	"70"	"2"	"112779845"	"112779845"	"subst"	"0"	"00000"	"MERTK_000150"	"g.112779845G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.961-1G>T/p.?, variant 2: c.2360G>A/p.G787D"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112022268G>A"	""	"likely pathogenic"	""
"0000820799"	"1"	"70"	"2"	"112779845"	"112779845"	"subst"	"0"	"00000"	"MERTK_000150"	"g.112779845G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.844+2dup/p.?, variant 2: c.2360G>A/p.G787D"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112022268G>A"	""	"likely pathogenic"	""
"0000820826"	"1"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MERTK, variant 1: c.1689_1690+5delinsATATTA/p.?, variant 2 :Deletion entire gene"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000821293"	"0"	"90"	"2"	"112777074"	"112777074"	"subst"	"1.21838E-5"	"00000"	"MERTK_000035"	"g.112777074C>T"	""	"{PMID:Turro 2020:32581362}"	""	"MERTK c.2164C>T, p.Arg722Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112019497C>T"	""	"pathogenic"	""
"0000821294"	"3"	"70"	"2"	"112785971"	"112785971"	"subst"	"8.12282E-6"	"00000"	"MERTK_000101"	"g.112785971C>T"	""	"{PMID:Turro 2020:32581362}"	""	"MERTK c.2530C>T, p.Arg844Cys"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112028394C>T"	""	"likely pathogenic"	""
"0000821295"	"0"	"70"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"00000"	"MERTK_000145"	"g.112777089C>G"	""	"{PMID:Turro 2020:32581362}"	""	"MERTK c.2179C>G, p.Arg727Gly"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112019512C>G"	""	"likely pathogenic"	""
"0000821572"	"0"	"70"	"2"	"112648147"	"112739204"	"del"	"0"	"00000"	"SNRNP200_000007"	"g.112648147_112739204del"	""	"{PMID:Turro 2020:32581362}"	""	"chr2:g.112648147_112739204del"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000821573"	"0"	"70"	"2"	"112777090"	"112777090"	"subst"	"0"	"00000"	"MERTK_000089"	"g.112777090G>A"	""	"{PMID:Turro 2020:32581362}"	""	"MERTK c.2180G>A, p.Arg727Gln"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112019513G>A"	""	"likely pathogenic"	""
"0000822707"	"0"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Gliem 2020:32646556}"	""	"MERTK Deletion of exons 2-19, c.369C>G, p.Tyr123*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000822708"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Gliem 2020:32646556}"	""	"MERTK c.2189+1G>T, splice site"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000822709"	"3"	"70"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Gliem 2020:32646556}"	""	"MERTK c.2189+1G>T, splice site"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112019523G>T"	""	"likely pathogenic"	""
"0000822752"	"0"	"70"	"2"	"112687004"	"112687004"	"subst"	"0"	"00000"	"MERTK_000146"	"g.112687004C>G"	""	"{PMID:Gliem 2020:32646556}"	""	"MERTK Deletion of exons 2-19 c.369C>G, p.? p.Tyr123*"	"hemizygous (apparent homozygosity because of lack of second sequence on the other allele"	"Unknown"	"?"	""	"0"	""	""	"g.111929427C>G"	""	"likely pathogenic"	""
"0000822940"	"3"	"70"	"2"	"112779023"	"112779023"	"del"	"0"	"00000"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Méjécase 2020:32783370}"	""	"MERTK c.2214del p.(Cys738Trpfs *32)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112021446del"	""	"likely pathogenic"	""
"0000822941"	"0"	"70"	"2"	"112779023"	"112779023"	"del"	"0"	"00000"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Méjécase 2020:32783370}"	""	"MERTK c.2214del p.(Cys738Trpfs *32)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112021446del"	""	"likely pathogenic"	""
"0000822972"	"0"	"70"	"2"	"0"	"0"	""	"0"	"00000"	"SNRNP200_000007"	"g.?"	""	"{PMID:Méjécase 2020:32783370}"	""	"MERTK Multi-exon (3-19) deletion"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000822977"	"0"	"70"	"2"	"112705108"	"112705108"	"subst"	"0"	"00000"	"MERTK_000001"	"g.112705108C>T"	""	"{PMID:Méjécase 2020:32783370}"	""	"MERTK c.721C>T p.(Gln241*)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111947531C>T"	""	"likely pathogenic"	""
"0000822979"	"0"	"70"	"2"	"112725696"	"112725696"	"subst"	"0"	"00000"	"MERTK_000015"	"g.112725696G>A"	""	"{PMID:Méjécase 2020:32783370}"	""	"MERTK c.845-18G >A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111968119G>A"	""	"likely pathogenic"	""
"0000823255"	"0"	"50"	"2"	"112687025"	"112687025"	"subst"	"0"	"00000"	"MERTK_000002"	"g.112687025G>A"	""	"{PMID:Hull 2020:32856788}"	""	"MERTK nucleotide 1, protein 1:c.390G>A, p.Trp130* nucleotide 2, protein 2:c.1605-2A>G, p.?"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.111929448G>A"	""	"VUS"	""
"0000823287"	"0"	"50"	"2"	"112758776"	"112758776"	"subst"	"0"	"00000"	"MERTK_000073"	"g.112758776A>G"	""	"{PMID:Hull 2020:32856788}"	""	"MERTK nucleotide 1, protein 1:c.390G>A, p.Trp130* nucleotide 2, protein 2:c.1605-2A>G, p.?"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.112001199A>G"	""	"VUS"	""
"0000825819"	"3"	"70"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Liu-2020:33090715}"	""	"c.296_297delCA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825908"	"3"	"70"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Liu-2020:33090715}"	""	"c.296_297delCA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825972"	"0"	"70"	"2"	"112740571"	"112740571"	"subst"	"2.43726E-5"	"00000"	"MERTK_000065"	"g.112740571G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.1296+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825973"	"0"	"70"	"2"	"112779132"	"112779132"	"subst"	"0"	"00000"	"MERTK_000097"	"g.112779132C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.2323C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826090"	"0"	"70"	"2"	"112686860"	"112686860"	"del"	"4.06124E-6"	"00000"	"MERTK_000047"	"g.112686860del"	""	"{PMID:Liu-2020:33090715}"	""	"c.225delA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826091"	"0"	"70"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"00000"	"MERTK_000145"	"g.112777089C>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.2179C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826263"	"0"	"70"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Liu-2020:33090715}"	""	"c.291_292delAC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826264"	"0"	"70"	"2"	"112705142"	"112705142"	"del"	"0"	"00000"	"MERTK_000202"	"g.112705142del"	""	"{PMID:Liu-2020:33090715}"	""	"c.754delC"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826508"	"3"	"90"	"2"	"112687027"	"112687027"	"subst"	"4.0626E-6"	"00000"	"MERTK_000200"	"g.112687027G>A"	""	"{PMID:Salmaninejad-202:33173045}"	""	"c.392G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000827293"	"0"	"70"	"2"	"112725731"	"112725736"	"del"	"0"	"00000"	"MERTK_000203"	"g.112725731_112725736del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.861_866del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827294"	"0"	"50"	"2"	"112705066"	"112705066"	"subst"	"0"	"00000"	"MERTK_000201"	"g.112705066G>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.679G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000827295"	"3"	"90"	"2"	"112732980"	"112732981"	"del"	"0"	"00000"	"MERTK_000205"	"g.112732980_112732981del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1075_1076del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827296"	"3"	"70"	"2"	"112777073"	"112777073"	"subst"	"4.06124E-6"	"00000"	"MERTK_000087"	"g.112777073T>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2163T>A"	""	"Germline"	""	"rs749472520"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827297"	"3"	"90"	"2"	"112732953"	"112732953"	"subst"	"0"	"00000"	"MERTK_000204"	"g.112732953C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1048C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000828769"	"0"	"90"	"2"	"112767552"	"112767553"	"ins"	"0"	"00000"	"MERTK_000207"	"g.112767552_112767553insAT"	""	"{PMID:Chen 2021:43360855}"	""	"MERTK c.296_297del(;)1988_1989insAT, V1: c.1988_1989insAT, (p.Ile664SerfsTer7)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.112009975_112009976insAT"	""	"pathogenic"	"ACMG"
"0000828794"	"0"	"90"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Chen 2021:43360855}"	""	"MERTK c.296_297del(;)499C>G, V1: c.296_297delCA, (p.Thr99SerfsTer8)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111929354_111929355del"	""	"pathogenic"	"ACMG"
"0000828974"	"0"	"90"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	""	"{PMID:Chen 2021:43360855}"	""	"MERTK c.296_297del(;)1988_1989insAT, V2: c.296_297delCA, (p.Thr99SerfsTer8)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111929354_111929355del"	""	"pathogenic"	"ACMG"
"0000828999"	"0"	"50"	"2"	"112702553"	"112702553"	"subst"	"0"	"00000"	"MERTK_000206"	"g.112702553C>G"	""	"{PMID:Chen 2021:43360855}"	""	"MERTK c.296_297del(;)499C>G, V2: c.499C>G, (p.Arg167Gly)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.111944976C>G"	""	"VUS"	"ACMG"
"0000829698"	"3"	"90"	"2"	"112648150"	"112739206"	"del"	"0"	"00006"	"MERTK_000208"	"g.112648150_112739206del"	""	"{PMID:Ellingford 2016:26872967}"	""	"c.-8163_c.1145-1213del"	""	"Germline"	""	""	"0"	""	""	"g.111890573_111981629del"	""	"pathogenic"	""
"0000834006"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Brea-Fernández 2008:18815424}"	""	"IVS16+1G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834007"	"0"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Brea-Fernández 2008:18815424}"	""	"IVS16+1G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834053"	"0"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834054"	"0"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834055"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834056"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834057"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834058"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834059"	"3"	"90"	"2"	"112777100"	"112777100"	"subst"	"2.03075E-5"	"00000"	"MERTK_000005"	"g.112777100G>T"	""	"{PMID:Charbel Issa 2009:19403518}"	""	"c.2189+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834060"	"0"	"70"	"2"	"112648151"	"112739207"	"del"	"0"	"00000"	"MERTK_000209"	"g.112648151_112739207del"	""	"{PMID:Jonsson 2018:30416333}"	""	"c.-8162_1145-1212del, p.?"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834061"	"0"	"70"	"2"	"112779118"	"112779118"	"subst"	"1.22033E-5"	"00000"	"MERTK_000213"	"g.112779118A>G"	""	"{PMID:Jonsson 2018:30416333}"	""	"c.2309A>G,p.Glu770Gly"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834062"	"0"	"70"	"2"	"112648151"	"112739207"	"del"	"0"	"00000"	"MERTK_000209"	"g.112648151_112739207del"	""	"{PMID:Jonsson 2018:30416333}"	""	"c.-8162_1145-1212del, p.?"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834063"	"0"	"70"	"2"	"112779118"	"112779118"	"subst"	"1.22033E-5"	"00000"	"MERTK_000213"	"g.112779118A>G"	""	"{PMID:Jonsson 2018:30416333}"	""	"c.2309A>G,p.Glu770Gly"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834064"	"3"	"70"	"2"	"112765972"	"112765972"	"subst"	"8.12249E-6"	"00000"	"MERTK_000212"	"g.112765972C>A"	""	"{PMID:Liu 2018:30790467}"	""	"c.1880C>A"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834065"	"3"	"70"	"2"	"112754908"	"112754909"	"del"	"0"	"00000"	"MERTK_000210"	"g.112754908_112754909del"	""	"{PMID:Liu 2018:30790467}"	""	"c.1459_1460delGA"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834066"	"3"	"70"	"2"	"112687027"	"112687027"	"subst"	"4.0626E-6"	"00000"	"MERTK_000200"	"g.112687027G>A"	""	"{PMID:Liu 2018:30790467}"	""	"c.392G>A"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000834067"	"0"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834068"	"0"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834069"	"3"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834070"	"3"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834075"	"3"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834076"	"3"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834077"	"3"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834078"	"0"	"90"	"2"	"112758820"	"112758820"	"subst"	"0"	"00000"	"MERTK_000211"	"g.112758820T>G"	"0/120 ethnically matched controls"	"{PMID:Bhatia 2019:30851773}"	""	"c.1647T>G (p.Tyr549Ter)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000841438"	"3"	"90"	"2"	"112751866"	"112751867"	"del"	"0"	"00006"	"MERTK_000068"	"g.112751866_112751867del"	""	"{PMID:Aldahmesh 2009:19956407}"	""	"c.1335delAG"	""	"Germline"	"yes"	""	"0"	""	""	"g.111994289_111994290del"	""	"pathogenic (recessive)"	""
"0000848921"	"0"	"30"	"2"	"112686911"	"112686911"	"subst"	"2.84301E-5"	"01943"	"MERTK_000214"	"g.112686911G>A"	""	""	""	"MERTK(NM_006343.2):c.276G>A (p.P92=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848922"	"0"	"90"	"2"	"112722856"	"112722856"	"subst"	"0"	"02327"	"MERTK_000216"	"g.112722856T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000848923"	"0"	"30"	"2"	"112786292"	"112786292"	"subst"	"0.000560506"	"01943"	"MERTK_000218"	"g.112786292G>A"	""	""	""	"MERTK(NM_006343.2):c.2851G>A (p.A951T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857676"	"0"	"30"	"2"	"112687110"	"112687110"	"subst"	"3.67557E-5"	"01943"	"MERTK_000215"	"g.112687110T>A"	""	""	""	"MERTK(NM_006343.2):c.475T>A (p.S159T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857677"	"0"	"30"	"2"	"112740547"	"112740547"	"subst"	"0"	"01943"	"MERTK_000217"	"g.112740547G>T"	""	""	""	"MERTK(NM_006343.2):c.1273G>T (p.V425L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883708"	"0"	"30"	"2"	"112705158"	"112705158"	"subst"	"0"	"02330"	"MERTK_000219"	"g.112705158G>A"	""	""	""	"MERTK(NM_006343.3):c.757+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896519"	"0"	"90"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	"Taiwan Biobank: delAC:0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119"	"{PMID:Chen 2021:33608557}"	""	"MERTK c.296_297del(;)499C>G; p.(Thr99SerfsTer8)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.111929354_111929355del"	""	"pathogenic"	""
"0000896520"	"0"	"50"	"2"	"112702553"	"112702553"	"subst"	"0"	"00000"	"MERTK_000206"	"g.112702553C>G"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"MERTK c.296_297del(;)499C>G; p.(Arg167Gly)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.111944976C>G"	""	"VUS"	""
"0000896713"	"0"	"90"	"2"	"112767552"	"112767553"	"ins"	"0"	"00000"	"MERTK_000207"	"g.112767552_112767553insAT"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"MERTK c.296_297del(;)1988_1989insAT; p.(Ile664SerfsTer7)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.112009975_112009976insAT"	""	"pathogenic"	""
"0000896714"	"0"	"90"	"2"	"112686931"	"112686932"	"del"	"0"	"00000"	"MERTK_000154"	"g.112686931_112686932del"	"Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119"	"{PMID:Chen 2021:33608557}"	""	"MERTK c.296_297del(;)1988_1989insAT; p.(Thr99SerfsTer8)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.111929354_111929355del"	""	"pathogenic"	""
"0000915848"	"3"	"70"	"2"	"112687071"	"112687072"	"del"	"0"	"04436"	"MERTK_000155"	"g.112687071_112687072del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.436_437del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000915913"	"1"	"50"	"2"	"112686978"	"112686978"	"subst"	"0"	"04436"	"MERTK_000050"	"g.112686978T>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.343T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000915914"	"2"	"90"	"2"	"112777089"	"112777089"	"subst"	"4.06147E-6"	"04436"	"MERTK_000033"	"g.112777089C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2179C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916083"	"3"	"90"	"2"	"112765960"	"112765960"	"subst"	"4.06167E-6"	"04436"	"MERTK_000220"	"g.112765960T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1868T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916321"	"1"	"70"	"2"	"112760722"	"112760729"	"delins"	"0"	"04436"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916322"	"2"	"90"	"2"	"112779132"	"112779132"	"subst"	"0"	"04436"	"MERTK_000097"	"g.112779132C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2323C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916350"	"1"	"50"	"2"	"112767624"	"112767624"	"subst"	"0"	"04436"	"MERTK_000170"	"g.112767624G>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2060G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916351"	"2"	"50"	"2"	"112779114"	"112779114"	"subst"	"0.000329242"	"04436"	"MERTK_000171"	"g.112779114A>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2305A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916357"	"1"	"50"	"2"	"0"	"0"	""	"0"	"04436"	"SNRNP200_000007"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(1296+1_1297-1)_(1960+1_1961-1)dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916358"	"2"	"90"	"2"	"112777090"	"112777090"	"subst"	"0"	"04436"	"MERTK_000089"	"g.112777090G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2180G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916388"	"1"	"90"	"2"	"0"	"0"	""	"0"	"04436"	"SNRNP200_000007"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(1-?)_(1144+1_1145-1)del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916389"	"2"	"70"	"2"	"112760722"	"112760729"	"delins"	"0"	"04436"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916420"	"1"	"90"	"2"	"112758864"	"112758864"	"subst"	"4.06322E-6"	"04436"	"MERTK_000074"	"g.112758864G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1690+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916421"	"2"	"70"	"2"	"112760722"	"112760729"	"delins"	"0"	"04436"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916423"	"3"	"70"	"2"	"112760722"	"112760729"	"delins"	"0"	"04436"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916449"	"1"	"90"	"2"	"112751832"	"112751833"	"del"	"0"	"04436"	"MERTK_000067"	"g.112751832_112751833del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1301_1302del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916450"	"2"	"90"	"2"	"112779111"	"112779111"	"subst"	"2.44545E-5"	"04436"	"MERTK_000096"	"g.112779111G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2302G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916483"	"3"	"70"	"2"	"112760722"	"112760729"	"delins"	"0"	"04436"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916546"	"3"	"50"	"2"	"112779029"	"112779029"	"subst"	"4.06593E-6"	"04436"	"MERTK_000126"	"g.112779029G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2220G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916625"	"1"	"90"	"2"	"0"	"0"	""	"0"	"04436"	"SNRNP200_000007"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(482+1_483-1)_(*127+?)del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916626"	"2"	"50"	"2"	"112785939"	"112785939"	"subst"	"0"	"04436"	"MERTK_000221"	"g.112785939T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2498T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916711"	"3"	"70"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"04436"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1450G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916741"	"3"	"70"	"2"	"112751981"	"112751981"	"subst"	"1.21867E-5"	"04436"	"MERTK_000070"	"g.112751981G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1450G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916761"	"3"	"70"	"2"	"112779003"	"112779003"	"subst"	"0"	"04436"	"MERTK_000090"	"g.112779003C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2194C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000944535"	"1"	"90"	"2"	"0"	"0"	""	""	"04542"	"MERTK_000222"	"g.(?_112744153)_(112766352del_?)del~"	""	"{PMID:De Bruijn 2022:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(?_111986574)_(112008773_?)del"	""	"pathogenic (recessive)"	"ACMG"
"0000955396"	"2"	"70"	"2"	"112779028"	"112779028"	"subst"	"4.06597E-6"	"00006"	"MERTK_000092"	"g.112779028C>T"	""	"{PMID:de Bruijn 2023:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.112021451C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958065"	"3"	"70"	"2"	"112740575"	"112740575"	"subst"	"0"	"00006"	"MERTK_000223"	"g.112740575G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.111982998G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958074"	"3"	"90"	"2"	"112760722"	"112760729"	"delins"	"0"	"00006"	"MERTK_000076"	"g.112760722_112760729delinsT"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.112003145_112003152delinsT"	""	"pathogenic (recessive)"	"ACMG"
"0000958327"	"0"	"90"	"2"	"112751832"	"112751833"	"del"	"0"	"00006"	"MERTK_000067"	"g.112751832_112751833del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.111994255_111994256del"	"957448"	"pathogenic (recessive)"	"ACMG"
"0000958358"	"3"	"90"	"2"	"112758862"	"112758868"	"delins"	"0"	"00006"	"MERTK_000141"	"g.112758862_112758868delinsATATTA"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.112001285_112001291delinsATATTA"	""	"pathogenic (recessive)"	"ACMG"
"0000958373"	"3"	"90"	"2"	"112777073"	"112777073"	"subst"	"4.06124E-6"	"00006"	"MERTK_000087"	"g.112777073T>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PM1, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.112019496T>A"	"866882"	"pathogenic (recessive)"	"ACMG"
"0000958613"	"0"	"70"	"2"	"112767634"	"112767638"	"del"	"0"	"00006"	"MERTK_000084"	"g.112767634_112767638del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.112010057_112010061del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958925"	"21"	"90"	"2"	"112766043"	"112766043"	"subst"	"5.68639E-5"	"00006"	"MERTK_000082"	"g.112766043C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.112008466C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000959089"	"0"	"90"	"2"	"112751832"	"112751833"	"del"	"0"	"00006"	"MERTK_000067"	"g.112751832_112751833del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.111994255_111994256del"	""	"pathogenic (recessive)"	"ACMG"
"0000959362"	"11"	"50"	"2"	"112779029"	"112779029"	"subst"	"4.06593E-6"	"00006"	"MERTK_000126"	"g.112779029G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BP7, PM3"	"Germline"	""	""	"0"	""	""	"g.112021452G>A"	""	"VUS"	"ACMG"
"0000987663"	"3"	"70"	"2"	"112687071"	"112687071"	"subst"	"4.06438E-6"	"04543"	"MERTK_000224"	"g.112687071C>T"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.111929494C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987664"	"3"	"70"	"2"	"112687071"	"112687071"	"subst"	"4.06438E-6"	"04543"	"MERTK_000224"	"g.112687071C>T"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.111929494C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987665"	"3"	"70"	"2"	"112687071"	"112687071"	"subst"	"4.06438E-6"	"04543"	"MERTK_000224"	"g.112687071C>T"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.111929494C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987666"	"3"	"70"	"2"	"112687071"	"112687071"	"subst"	"4.06438E-6"	"04543"	"MERTK_000224"	"g.112687071C>T"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.111929494C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987668"	"3"	"70"	"2"	"112687071"	"112687071"	"subst"	"4.06438E-6"	"04543"	"MERTK_000224"	"g.112687071C>T"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.111929494C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000991558"	"0"	"90"	"2"	"112779833"	"112779833"	"subst"	"0"	"02327"	"MERTK_000225"	"g.112779833A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001019636"	"1"	"90"	"2"	"112754897"	"112754897"	"subst"	"0"	"00006"	"MERTK_000226"	"g.112754897C>G"	""	"{PMID:Wen 2023:36811936}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111997320C>G"	""	"pathogenic (recessive)"	""
"0001019637"	"2"	"90"	"2"	"112688710"	"112808103"	"del"	"0"	"00006"	"MERTK_000227"	"g.112688710_112808103del"	""	"{PMID:Wen 2023:36811936}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111931133_112050526del"	""	"pathogenic (recessive)"	""
"0001032315"	"0"	"50"	"2"	"112785955"	"112785955"	"subst"	"0"	"02330"	"MERTK_000228"	"g.112785955A>C"	""	""	""	"MERTK(NM_006343.3):c.2514A>C (p.R838S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032316"	"0"	"50"	"2"	"112786399"	"112786401"	"del"	"0"	"02330"	"MERTK_000229"	"g.112786399_112786401del"	""	""	""	"MERTK(NM_006343.3):c.2958_2960delGTT (p.L986del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001048389"	"0"	"30"	"2"	"112687175"	"112687176"	"ins"	"0"	"03779"	"MERTK_000230"	"g.112687175_112687176insTTTATTTATTTATTTATTTATTTA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0001048790"	"0"	"30"	"2"	"112687168"	"112687175"	"dup"	"0"	"03779"	"MERTK_000231"	"g.112687168_112687175dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0001048791"	"0"	"30"	"2"	"112722854"	"112722854"	"subst"	"0.0107717"	"03779"	"MERTK_000232"	"g.112722854G>A"	""	""	""	""	""	"Unknown"	""	"rs7588635"	"0"	""	""	""	""	"likely benign"	""
"0001058895"	"0"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Retterer 2016:26633542}"	""	"2214delT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0001058896"	"0"	"90"	"2"	"112779023"	"112779023"	"del"	"0"	"00006"	"MERTK_000091"	"g.112779023del"	""	"{PMID:Retterer 2016:26633542}"	""	"2214delT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.112021446del"	""	"pathogenic"	""
"0001059867"	"3"	"90"	"2"	"112761537"	"112761537"	"subst"	"0"	"00006"	"MERTK_000233"	"g.112761537A>T"	""	"{PMID:Rashid 2020:32976546}"	""	""	"ACMG PVS1, PM1, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.112003960A>T"	""	"pathogenic (recessive)"	"ACMG"


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MERTK
## Count = 468
"{{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}}"	"{{VariantOnTranscript/Protein/Domain}}"
"0000019500"	"00012010"	"90"	"92"	"0"	"98"	"0"	"c.92_98del"	"r.(?)"	"p.(Pro31Argfs*31)"	"2"	""
"0000019501"	"00012010"	"90"	"390"	"0"	"390"	"0"	"c.390G>A"	"r.(?)"	"p.(Trp130*)"	"2"	""
"0000140632"	"00012010"	"95"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Gln241*)"	"4"	""
"0000162799"	"00012010"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.(?)"	"p.(Glu240*)"	"4"	""
"0000170949"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl"	"p.?"	"16i"	""
"0000245789"	"00012010"	"10"	"1353"	"0"	"1353"	"0"	"c.1353A>G"	"r.(?)"	"p.(Gln451=)"	""	""
"0000248492"	"00012010"	"10"	"1881"	"0"	"1881"	"0"	"c.1881A>G"	"r.(?)"	"p.(Ser627=)"	""	""
"0000248798"	"00012010"	"10"	"1552"	"0"	"1552"	"0"	"c.1552A>G"	"r.(?)"	"p.(Ile518Val)"	""	""
"0000254679"	"00012010"	"30"	"102"	"0"	"102"	"0"	"c.102A>G"	"r.(?)"	"p.(Leu34=)"	""	""
"0000279660"	"00012010"	"30"	"107"	"0"	"107"	"0"	"c.107C>T"	"r.(?)"	"p.(Pro36Leu)"	""	""
"0000279662"	"00012010"	"50"	"1261"	"0"	"1261"	"0"	"c.1261C>T"	"r.(?)"	"p.(Arg421Trp)"	""	""
"0000279663"	"00012010"	"10"	"1340"	"0"	"1340"	"0"	"c.1340G>A"	"r.(?)"	"p.(Arg447Gln)"	""	""
"0000279664"	"00012010"	"30"	"1450"	"18"	"1450"	"18"	"c.1450+18T>A"	"r.(=)"	"p.(=)"	""	""
"0000279665"	"00012010"	"10"	"1960"	"8"	"1960"	"8"	"c.1960+8C>T"	"r.(=)"	"p.(=)"	""	""
"0000279666"	"00012010"	"10"	"2028"	"0"	"2028"	"0"	"c.2028C>T"	"r.(?)"	"p.(Tyr676=)"	""	""
"0000279667"	"00012010"	"10"	"2142"	"0"	"2142"	"0"	"c.2142G>C"	"r.(?)"	"p.(Leu714=)"	""	""
"0000279668"	"00012010"	"10"	"2467"	"0"	"2467"	"0"	"c.2467G>C"	"r.(?)"	"p.(Glu823Gln)"	""	""
"0000279669"	"00012010"	"10"	"584"	"-5"	"584"	"-5"	"c.584-5C>T"	"r.spl?"	"p.?"	""	""
"0000279670"	"00012010"	"10"	"584"	"-6"	"584"	"-6"	"c.584-6C>T"	"r.(=)"	"p.(=)"	""	""
"0000279671"	"00012010"	"50"	"653"	"0"	"653"	"0"	"c.653G>C"	"r.(?)"	"p.(Cys218Ser)"	""	""
"0000279672"	"00012010"	"10"	"845"	"-18"	"845"	"-18"	"c.845-18G>A"	"r.(=)"	"p.(=)"	""	""
"0000282478"	"00012010"	"10"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Lys)"	""	""
"0000282479"	"00012010"	"10"	"1451"	"-20"	"1451"	"-20"	"c.1451-20G>A"	"r.(=)"	"p.(=)"	""	""
"0000282480"	"00012010"	"10"	"1494"	"0"	"1494"	"0"	"c.1494C>T"	"r.(?)"	"p.(Asn498=)"	""	""
"0000282481"	"00012010"	"10"	"353"	"0"	"353"	"0"	"c.353G>A"	"r.(?)"	"p.(Ser118Asn)"	""	""
"0000282482"	"00012010"	"10"	"583"	"10"	"583"	"10"	"c.583+10C>T"	"r.(=)"	"p.(=)"	""	""
"0000291738"	"00012010"	"50"	"1893"	"0"	"1893"	"0"	"c.1893C>T"	"r.(?)"	"p.(Ile631=)"	""	""
"0000291739"	"00012010"	"30"	"1960"	"8"	"1960"	"8"	"c.1960+8C>T"	"r.(=)"	"p.(=)"	""	""
"0000291740"	"00012010"	"30"	"61"	"3"	"61"	"3"	"c.61+3G>C"	"r.spl?"	"p.?"	""	""
"0000291741"	"00012010"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Ala264Gly)"	""	""
"0000337017"	"00012010"	"10"	"2080"	"-11"	"2080"	"-11"	"c.2080-11C>A"	"r.(=)"	"p.(=)"	""	""
"0000343311"	"00012010"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727Ter)"	""	""
"0000345999"	"00012010"	"90"	"985"	"0"	"988"	"0"	"c.985_988dup"	"r.(?)"	"p.(Gly330GlufsTer8)"	""	""
"0000350845"	"00012010"	"90"	"2190"	"-1"	"2190"	"-1"	"c.2190-1G>T"	"r.spl?"	"p.?"	""	""
"0000358283"	"00012010"	"90"	"2164"	"0"	"2164"	"0"	"c.2164C>T"	"r.(?)"	"p.(Arg722*)"	"16"	""
"0000394542"	"00012010"	"10"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Ala264Gly)"	"5"	"Ig-like C2 type 2"
"0000394544"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394545"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394546"	"00012010"	"90"	"1145"	"-1"	"1296"	"1"	"c.(1144+1_1145-1)_(1296+1_1297-1)del"	"r.?"	"p.?"	"7i_8i"	""
"0000394547"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394548"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394549"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394550"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394551"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl"	"p.?"	"16i"	"kinase domain"
"0000394552"	"00012010"	"90"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Arg651*)"	"14"	"kinase domain"
"0000394553"	"00012010"	"90"	"-8160"	"0"	"1145"	"-1213"	"c.-8160_1145-1213del"	"r.0?"	"p.0?"	"_1_7i"	""
"0000394554"	"00012010"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	"1"	""
"0000394555"	"00012010"	"90"	"35"	"0"	"35"	"0"	"c.35T>C"	"r.(?)"	"p.(Leu12Pro)"	"1"	"signal peptide"
"0000394556"	"00012010"	"30"	"59"	"0"	"59"	"0"	"c.59G>C"	"r.(?)"	"p.(Arg20Thr)"	"1"	"signal peptide"
"0000394557"	"00012010"	"90"	"60"	"0"	"60"	"0"	"c.60del"	"r.(?)"	"p.(Ala21Leufs*43)"	"1"	"N-terminus"
"0000394558"	"00012010"	"90"	"61"	"1"	"61"	"1"	"c.61+1G>A"	"r.spl"	"p.?"	"1i"	"N-terminus"
"0000394559"	"00012010"	"90"	"62"	"-1"	"62"	"-1"	"c.62-1G>A"	"r.spl"	"p.?"	"1i"	"N-terminus"
"0000394561"	"00012010"	"90"	"225"	"0"	"225"	"0"	"c.225del"	"r.(?)"	"p.(Gly76Glufs*3)"	"2"	"N-terminus fragment"
"0000394562"	"00012010"	"90"	"308"	"0"	"309"	"0"	"c.308_309del"	"r.(?)"	"p.(Ile103Asnfs*4)"	"2"	"Ig-like C2 type I"
"0000394563"	"00012010"	"90"	"325"	"0"	"325"	"0"	"c.325A>T"	"r.(?)"	"p.(Lys109*)"	"2"	"Ig-like C2 type I"
"0000394564"	"00012010"	"90"	"343"	"0"	"343"	"0"	"c.343T>G"	"r.(?)"	"p.(Cys115Gly)"	"2"	"Ig-like C2 type I"
"0000394566"	"00012010"	"90"	"483"	"-1"	"3001"	"0"	"c.(482+1_483-1)_(*1_?)del"	"r.?"	"p.0?"	"2i_19_"	""
"0000394567"	"00012010"	"10"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	"3"	"Ig-like C2 type I"
"0000394568"	"00012010"	"90"	"634"	"0"	"634"	"0"	"c.634A>C"	"r.(?)"	"p.(Thr212Pro)"	"4"	"Ig-like C2 type 2"
"0000394569"	"00012010"	"10"	"640"	"0"	"640"	"0"	"c.640T>G"	"r.(?)"	"p.(Phe214Val)"	"4"	"Ig-like C2 type 2"
"0000394570"	"00012010"	"90"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Gly222Asp)"	"4"	"Ig-like C2 type 2"
"0000394571"	"00012010"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.(?)"	"p.(Glu240*)"	"4"	"Ig-like C2 type 2"
"0000394572"	"00012010"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Gln241*)"	"4"	"Ig-like C2 type 2"
"0000394573"	"00012010"	"90"	"785"	"0"	"785"	"0"	"c.785G>T"	"r.(?)"	"p.(Cys262Phe)"	"5"	"Ig-like C2 type 2"
"0000394574"	"00012010"	"90"	"814"	"0"	"814"	"0"	"c.814G>A"	"r.(?)"	"p.Val272Met"	"5"	"Ig-like C2 type 2"
"0000394575"	"00012010"	"90"	"845"	"-421"	"1297"	"-1407"	"c.845-421_1297-1407delinsATTACTAGGTGAAGCACAGTGGAGCACATGGCTTGGTATAGGAGACCC"	"r.(?)"	"p.0?"	"6"	""
"0000394576"	"00012010"	"90"	"933"	"0"	"935"	"0"	"c.933_935delinsTT"	"r.(?)"	"p.(Pro313Argfs*15)"	"6"	"1st FN-III domain"
"0000394577"	"00012010"	"90"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.spl?"	"p.(Gly484Ser)"	"9"	"transmembrane and kinase domain"
"0000394578"	"00012010"	"90"	"986"	"0"	"986"	"0"	"c.986A>G"	"r.(?)"	"p.(Asn329Ser)"	"7"	"1st FN-III domain"
"0000394579"	"00012010"	"90"	"992"	"0"	"993"	"0"	"c.992_993del"	"r.(?)"	"p.(Ser331Cysfs*5)"	"7"	"1st FN-III domain"
"0000394580"	"00012010"	"90"	"1145"	"-1"	"1296"	"1"	"c.(1144+1_1145-1)_(1296+1_1297-1)del"	"r.?"	"p.?"	"7i_8i"	""
"0000394581"	"00012010"	"90"	"1179"	"0"	"1179"	"0"	"c.1179dup"	"r.(?)"	"p.(Leu394Serfs*3)"	"8"	"2nd FN-III domain"
"0000394582"	"00012010"	"90"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Glu396*)"	"8"	"2nd FN-III domain"
"0000394584"	"00012010"	"90"	"1297"	"-2"	"1297"	"-2"	"c.1297-2A>G"	"r.spl"	"p.?"	"8i"	"2nd FN-III domain"
"0000394585"	"00012010"	"90"	"1301"	"0"	"1302"	"0"	"c.1301_1302del"	"r.(?)"	"p.(Glu434Alafs*40)"	"9"	"2nd FN-III domain"
"0000394586"	"00012010"	"90"	"1335"	"0"	"1336"	"0"	"c.1335_1336del"	"r.(?)"	"p.(Ala446Serfs*28)"	"9"	"2nd FN-III domain"
"0000394587"	"00012010"	"10"	"1441"	"0"	"1441"	"0"	"c.1441C>T"	"r.spl"	"p.(Pro481Ser)"	"9"	"2nd FN-III domain"
"0000394588"	"00012010"	"90"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Gly484Ser)"	"9"	"transmembrane and kinase domain"
"0000394589"	"00012010"	"90"	"1530"	"0"	"1530"	"0"	"c.1530del"	"r.(?)"	"p.(Cys510Trpfs*5)"	"10"	"kinase domain"
"0000394590"	"00012010"	"90"	"1604"	"2"	"1604"	"2"	"c.1604+2T>G"	"r.spl"	"p.?"	"10i"	"kinase domain"
"0000394591"	"00012010"	"90"	"1605"	"-2"	"1605"	"-2"	"c.1605-2A>G"	"r.spl"	"p.?"	"10i"	"kinase domain"
"0000394592"	"00012010"	"90"	"1690"	"1"	"1690"	"1"	"c.1690+1G>A"	"r.spl"	"p.?"	"11i"	"kinase domain"
"0000394593"	"00012010"	"90"	"1691"	"-1"	"1691"	"-1"	"c.1691-1G>A"	"r.spl"	"p.?"	"11i"	"kinase domain"
"0000394594"	"00012010"	"90"	"1744"	"0"	"1751"	"0"	"c.1744_1751delinsT"	"r.(?)"	"p.(Ile582*)"	"12"	"kinase domain"
"0000394595"	"00012010"	"90"	"1786"	"0"	"1786"	"0"	"c.1786G>A"	"r.(?)"	"p.(Gly596Arg)"	"12"	"kinase domain"
"0000394596"	"00012010"	"90"	"1787"	"-2"	"1787"	"-2"	"c.1787-2A>C"	"r.spl"	"p.?"	"12i"	"kinase domain"
"0000394597"	"00012010"	"90"	"1866"	"0"	"1866"	"0"	"c.1866G>C"	"r.spl?"	"p.(Lys622Asn)"	"13"	"kinase domain"
"0000394598"	"00012010"	"10"	"1893"	"0"	"1893"	"0"	"c.1893C>G"	"r.(?)"	"p.(Ile631Met)"	"14"	"kinase domain"
"0000394599"	"00012010"	"50"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Arg651*)"	"14"	"kinase domain"
"0000394600"	"00012010"	"90"	"1961"	"0"	"1961"	"0"	"c.1961G>T"	"r.[1961_2079del,=]"	"p.?"	"15"	"kinase domain"
"0000394601"	"00012010"	"90"	"1961"	"-1"	"2079"	"1"	"c.(1960+1_1961-1)_(2079+1_2080-1)del"	"r.?"	"p.(Gly654Alafs*41)"	"14i_15i"	"kinase domain"
"0000394602"	"00012010"	"90"	"2070"	"0"	"2074"	"0"	"c.2070_2074del"	"r.(?)"	"p.(Gly691Lysfs*42)"	"15"	"kinase domain"
"0000394603"	"00012010"	"90"	"2079"	"2"	"2079"	"2"	"c.2079+2T>G"	"r.spl"	"p.?"	"15i"	"kinase domain"
"0000394604"	"00012010"	"90"	"2105"	"0"	"2105"	"0"	"c.2105dup"	"r.(?)"	"p.(Phe703Valfs*32)"	"16"	"kinase domain"
"0000394605"	"00012010"	"90"	"2163"	"0"	"2163"	"0"	"c.2163T>A"	"r.(?)"	"p.(His721Gln)"	"16"	"Kinase domain"
"0000394606"	"00012010"	"90"	"2164"	"0"	"2164"	"0"	"c.2164C>T"	"r.(?)"	"p.(Arg722*)"	"16"	"kinase domain"
"0000394607"	"00012010"	"50"	"1296"	"1"	"1296"	"1"	"c.1296+1G>A"	"r.spl"	"p.?"	"8i"	"2nd FN-III domain"
"0000394608"	"00012010"	"90"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.Arg844Cys"	"19"	"kinase domain"
"0000394609"	"00012010"	"90"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	"16"	"kinase domain"
"0000394610"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.(ex16del)"	"p.(His694Valfs*4)"	"16i"	"kinase domain"
"0000394611"	"00012010"	"90"	"2194"	"0"	"2194"	"0"	"c.2194C>T"	"r.(?)"	"p.(Arg732*)"	"17"	"kinase domain"
"0000394612"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	"17"	"kinase domain"
"0000394613"	"00012010"	"90"	"2164"	"0"	"2164"	"0"	"c.2164C>T"	"r.(?)"	"p.(Arg722*)"	"16"	"kinase domain"
"0000394614"	"00012010"	"10"	"2237"	"0"	"2237"	"0"	"c.2237A>G"	"r.(?)"	"p.(Lys746Arg)"	"17"	"kinase domain"
"0000394615"	"00012010"	"90"	"2262"	"0"	"2262"	"0"	"c.2262C>G"	"r.(?)"	"p.(Tyr754*)"	"17"	"kinase domain"
"0000394616"	"00012010"	"90"	"390"	"0"	"390"	"0"	"c.390G>A"	"r.(?)"	"p.(Trp130*)"	"2"	"Ig-like C2 type I"
"0000394617"	"00012010"	"90"	"2302"	"0"	"2302"	"0"	"c.2302G>A"	"r.(?)"	"p.(Ala768Thr)"	"17"	"kinase domain"
"0000394618"	"00012010"	"90"	"2323"	"0"	"2323"	"0"	"c.2323C>T"	"r.(?)"	"p.(Arg775*)"	"17"	"kinase domain"
"0000394619"	"00012010"	"90"	"2377"	"0"	"2377"	"0"	"c.2377del"	"r.(?)"	"p.(Ile793*)"	"18"	"kinase domain"
"0000394620"	"00012010"	"10"	"2435"	"0"	"2435"	"0"	"c.2435A>C"	"r.(?)"	"p.(Tyr812Ser)"	"18"	"kinase domain"
"0000394621"	"00012010"	"90"	"2487"	"-2"	"2487"	"-2"	"c.2487-2A>G"	"r.spl"	"p.?"	"18i"	"kinase domain"
"0000394622"	"00012010"	"90"	"2531"	"0"	"2531"	"0"	"c.2531G>C"	"r.(?)"	"p.(Arg844Pro)"	"19"	"kinase domain"
"0000394623"	"00012010"	"10"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Arg909His)"	"19"	"C-terminus"
"0000394624"	"00012010"	"10"	"2873"	"0"	"2873"	"0"	"c.2873C>T"	"r.(?)"	"p.(Pro958Leu)"	"19"	"C-terminus"
"0000394625"	"00012010"	"50"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	"Ig-like C2 type I"
"0000394626"	"00012010"	"90"	"1796"	"0"	"1796"	"0"	"c.1796G>A"	"r.(?)"	"p.(Gly599Glu)"	"13"	"kinase domain"
"0000394627"	"00012010"	"90"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Arg651*)"	"14"	"kinase domain"
"0000394628"	"00012010"	"90"	"1296"	"1"	"1296"	"1"	"c.1296+1G>A"	"r.spl"	"p.?"	"8i"	"2nd FN-III domain"
"0000394629"	"00012010"	"90"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Gln124*)"	"2"	"Ig-like C2 type I"
"0000394630"	"00012010"	"90"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	"Ig-like C2 type I"
"0000394631"	"00012010"	"90"	"665"	"0"	"666"	"0"	"c.665_666delinsAA"	"r.(?)"	"p.(Gly222Glu)"	"4"	"Ig-like C2 type 2"
"0000394632"	"00012010"	"90"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	"16"	"kinase domain"
"0000394633"	"00012010"	"90"	"985"	"0"	"988"	"0"	"c.985_988dup"	"r.(?)"	"p.(Gly330Glufs*8)"	"7"	"1st FN-III domain"
"0000394634"	"00012010"	"90"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	"Ig-like C2 type I"
"0000394635"	"00012010"	"90"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Arg651*)"	"14"	"kinase domain"
"0000394636"	"00012010"	"90"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	"Ig-like C2 type I"
"0000394637"	"00012010"	"50"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Trp)"	"19"	"kinase domain"
"0000394638"	"00012010"	"90"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.Arg844Cys"	"19"	"kinase domain"
"0000394639"	"00012010"	"90"	"2171"	"0"	"2171"	"0"	"c.2171del"	"r.(?)"	"p.(Leu724*)"	"16"	"kinase domain"
"0000394640"	"00012010"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727*)"	"16"	"kinase domain"
"0000394641"	"00012010"	"50"	"2219"	"0"	"2219"	"0"	"c.2219C>T"	"r.(?)"	"p.(Ala740Val)"	"17"	"kinase domain"
"0000394642"	"00012010"	"90"	"2287"	"0"	"2287"	"0"	"c.2287C>A"	"r.(?)"	"p.(Pro763Thr)"	"17"	"kinase domain"
"0000476133"	"00012010"	"90"	"224"	"0"	"224"	"0"	"c.224del"	"r.(?)"	"p.(Thr75Lysfs*4)"	""	""
"0000476134"	"00012010"	"90"	"343"	"0"	"343"	"0"	"c.343T>G"	"r.(?)"	"p.(Cys115Gly)"	""	""
"0000476135"	"00012010"	"10"	"353"	"0"	"353"	"0"	"c.353G>A"	"r.(?)"	"p.(Ser118Asn)"	""	""
"0000476136"	"00012010"	"90"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""	""
"0000476137"	"00012010"	"50"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(Arg293Cys)"	""	""
"0000476138"	"00012010"	"50"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Arg293His)"	""	""
"0000476139"	"00012010"	"50"	"986"	"0"	"986"	"0"	"c.986A>G"	"r.(?)"	"p.(Asn329Ser)"	""	""
"0000476140"	"00012010"	"50"	"989"	"0"	"989"	"0"	"c.989G>A"	"r.(?)"	"p.(Gly330Asp)"	""	""
"0000476141"	"00012010"	"50"	"1229"	"0"	"1229"	"0"	"c.1229C>T"	"r.(?)"	"p.(Thr410Ile)"	""	""
"0000476142"	"00012010"	"50"	"1232"	"0"	"1232"	"0"	"c.1232A>G"	"r.(?)"	"p.(Lys411Arg)"	""	""
"0000476143"	"00012010"	"50"	"1282"	"0"	"1282"	"0"	"c.1282A>G"	"r.(?)"	"p.(Ser428Gly)"	""	""
"0000476144"	"00012010"	"50"	"1334"	"0"	"1334"	"0"	"c.1334G>A"	"r.(?)"	"p.(Arg445Gln)"	""	""
"0000476145"	"00012010"	"50"	"1358"	"0"	"1358"	"0"	"c.1358A>G"	"r.(?)"	"p.(His453Arg)"	""	""
"0000476146"	"00012010"	"10"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Lys)"	""	""
"0000476147"	"00012010"	"50"	"1405"	"0"	"1405"	"0"	"c.1405G>T"	"r.(?)"	"p.(Val469Phe)"	""	""
"0000476148"	"00012010"	"50"	"1441"	"0"	"1441"	"0"	"c.1441C>T"	"r.(?)"	"p.(Pro481Ser)"	""	""
"0000476149"	"00012010"	"50"	"1490"	"0"	"1490"	"0"	"c.1490G>A"	"r.(?)"	"p.(Gly497Asp)"	""	""
"0000476150"	"00012010"	"10"	"1552"	"0"	"1552"	"0"	"c.1552A>G"	"r.(?)"	"p.(Ile518Val)"	""	""
"0000476151"	"00012010"	"50"	"1682"	"0"	"1682"	"0"	"c.1682A>G"	"r.(?)"	"p.(Glu561Gly)"	""	""
"0000476152"	"00012010"	"50"	"2051"	"0"	"2051"	"0"	"c.2051T>C"	"r.(?)"	"p.(Leu684Pro)"	""	""
"0000476153"	"00012010"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727*)"	""	""
"0000476154"	"00012010"	"50"	"2209"	"0"	"2209"	"0"	"c.2209G>C"	"r.(?)"	"p.(Val737Leu)"	""	""
"0000476155"	"00012010"	"50"	"2273"	"0"	"2273"	"0"	"c.2273G>A"	"r.(?)"	"p.(Arg758His)"	""	""
"0000476156"	"00012010"	"50"	"2380"	"0"	"2380"	"0"	"c.2380G>T"	"r.(?)"	"p.(Ala794Ser)"	""	""
"0000476157"	"00012010"	"50"	"2435"	"0"	"2435"	"0"	"c.2435A>G"	"r.(?)"	"p.(Tyr812Cys)"	""	""
"0000476158"	"00012010"	"50"	"2518"	"0"	"2518"	"0"	"c.2518G>A"	"r.(?)"	"p.(Asp840Asn)"	""	""
"0000476159"	"00012010"	"10"	"2608"	"0"	"2608"	"0"	"c.2608G>A"	"r.(?)"	"p.(Val870Ile)"	""	""
"0000476160"	"00012010"	"50"	"2725"	"0"	"2725"	"0"	"c.2725C>T"	"r.(?)"	"p.(Arg909Cys)"	""	""
"0000477448"	"00012010"	"10"	"353"	"0"	"353"	"0"	"c.353G>A"	"r.(?)"	"p.(Ser118Asn)"	""	""
"0000477449"	"00012010"	"50"	"1282"	"0"	"1282"	"0"	"c.1282A>G"	"r.(?)"	"p.(Ser428Gly)"	""	""
"0000477450"	"00012010"	"10"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Lys)"	""	""
"0000477451"	"00012010"	"10"	"1552"	"0"	"1552"	"0"	"c.1552A>G"	"r.(?)"	"p.(Ile518Val)"	""	""
"0000478804"	"00012010"	"90"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Arg651*)"	""	""
"0000478805"	"00012010"	"90"	"2220"	"0"	"2220"	"0"	"c.2220G>A"	"r.(?)"	"p.(Ala740=)"	""	""
"0000487568"	"00012010"	"70"	"2531"	"0"	"2531"	"0"	"c.2531G>A"	"r.(?)"	"p.(Arg844His)"	"19"	""
"0000508959"	"00012010"	"10"	"102"	"0"	"102"	"0"	"c.102A>G"	"r.(?)"	"p.(Leu34=)"	""	""
"0000508960"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	""	""
"0000508961"	"00012010"	"50"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	""	""
"0000508962"	"00012010"	"30"	"669"	"0"	"669"	"0"	"c.669G>A"	"r.(?)"	"p.(Pro223=)"	""	""
"0000508963"	"00012010"	"10"	"757"	"13"	"757"	"13"	"c.757+13T>C"	"r.(=)"	"p.(=)"	""	""
"0000508964"	"00012010"	"10"	"845"	"-15"	"845"	"-14"	"c.845-15_845-14insGTATGT"	"r.(=)"	"p.(=)"	""	""
"0000508965"	"00012010"	"30"	"961"	"-3"	"961"	"-3"	"c.961-3dup"	"r.spl?"	"p.?"	""	""
"0000508966"	"00012010"	"50"	"1058"	"0"	"1058"	"0"	"c.1058C>T"	"r.(?)"	"p.(Ala353Val)"	""	""
"0000508967"	"00012010"	"90"	"1179"	"0"	"1179"	"0"	"c.1179dup"	"r.(?)"	"p.(Leu394SerfsTer3)"	""	""
"0000508968"	"00012010"	"30"	"1216"	"0"	"1216"	"0"	"c.1216A>G"	"r.(?)"	"p.(Met406Val)"	""	""
"0000508969"	"00012010"	"70"	"1296"	"2"	"1296"	"2"	"c.1296+2dup"	"r.spl?"	"p.?"	""	""
"0000508970"	"00012010"	"10"	"1353"	"0"	"1353"	"0"	"c.1353A>G"	"r.(?)"	"p.(Gln451=)"	""	""
"0000508971"	"00012010"	"10"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.(?)"	"p.(Glu540Lys)"	""	""
"0000508972"	"00012010"	"10"	"1984"	"0"	"1984"	"0"	"c.1984C>G"	"r.(?)"	"p.(Gln662Glu)"	""	""
"0000508973"	"00012010"	"30"	"2079"	"10"	"2079"	"10"	"c.2079+10del"	"r.(=)"	"p.(=)"	""	""
"0000508974"	"00012010"	"50"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	""	""
"0000508975"	"00012010"	"50"	"2201"	"0"	"2201"	"0"	"c.2201A>T"	"r.(?)"	"p.(Asp734Val)"	""	""
"0000508976"	"00012010"	"50"	"2219"	"0"	"2219"	"0"	"c.2219C>T"	"r.(?)"	"p.(Ala740Val)"	""	""
"0000508977"	"00012010"	"50"	"2432"	"0"	"2432"	"0"	"c.2432A>T"	"r.(?)"	"p.(Asp811Val)"	""	""
"0000508978"	"00012010"	"50"	"2435"	"0"	"2435"	"0"	"c.2435A>G"	"r.(?)"	"p.(Tyr812Cys)"	""	""
"0000508979"	"00012010"	"30"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Trp)"	""	""
"0000508980"	"00012010"	"30"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Trp)"	""	""
"0000606057"	"00012010"	"50"	"1058"	"0"	"1058"	"0"	"c.1058C>T"	"r.(?)"	"p.(Ala353Val)"	""	""
"0000620718"	"00012010"	"50"	"1261"	"0"	"1261"	"0"	"c.1261C>T"	"r.(?)"	"p.(Arg421Trp)"	""	""
"0000650088"	"00012010"	"30"	"2608"	"0"	"2608"	"0"	"c.2608G>A"	"r.(?)"	"p.(Val870Ile)"	""	""
"0000666148"	"00012010"	"70"	"1689"	"0"	"1690"	"0"	"c.1689_1690delinsATATTA"	"r.(?)"	"p.(Leu564Tyrfs*4)"	""	""
"0000669500"	"00012010"	"30"	"2608"	"0"	"2608"	"0"	"c.2608G>A"	"r.(?)"	"p.(Val870Ile)"	""	""
"0000675994"	"00012010"	"30"	"555"	"0"	"555"	"0"	"c.555G>T"	"r.(?)"	"p.(Val185=)"	""	""
"0000675995"	"00012010"	"70"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Arg844Cys)"	""	""
"0000683406"	"00012010"	"50"	"98"	"0"	"98"	"0"	"c.98C>T"	"r.(?)"	"p.(Pro33Leu)"	""	""
"0000684537"	"00012010"	"70"	"2049"	"0"	"2052"	"0"	"c.2049_2052del"	"r.(?)"	"p.(Leu683Phefs*18)"	""	""
"0000684538"	"00012010"	"70"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Arg844Cys)"	""	""
"0000684633"	"00012010"	"70"	"2049"	"0"	"2052"	"0"	"c.2049_2052del"	"r.(?)"	"p.(Leu683Phefs*18)"	""	""
"0000684657"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl"	"p.?"	""	""
"0000685277"	"00012010"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000685278"	"00012010"	"90"	"2164"	"0"	"2164"	"0"	"c.2164C>T"	"r.(?)"	"p.(Arg722*)"	""	""
"0000688295"	"00012010"	"50"	"986"	"0"	"986"	"0"	"c.986A>G"	"r.(?)"	"p.(Asn329Ser)"	""	""
"0000703768"	"00012010"	"90"	"1605"	"-2"	"1605"	"-2"	"c.1605-2A>G"	"r.spl?"	"p.?"	"15i"	""
"0000703769"	"00012010"	"90"	"1605"	"-2"	"1605"	"-2"	"c.1605-2A>G"	"r.spl?"	"p.?"	"15i"	""
"0000710223"	"00012010"	"90"	"2531"	"0"	"2531"	"0"	"c.2531G>A"	"r.(?)"	"p.(Arg844His)"	""	""
"0000713353"	"00012010"	"90"	"2164"	"0"	"2164"	"0"	"c.2164C>T"	"r.(?)"	"p.(Arg722*)"	""	""
"0000713654"	"00012010"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>G"	"r.(?)"	"p.(Arg727Gly)"	""	""
"0000713895"	"00012010"	"90"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	""	""
"0000717798"	"00012010"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""	""
"0000717799"	"00012010"	"30"	"107"	"0"	"107"	"0"	"c.107C>T"	"r.(?)"	"p.(Pro36Leu)"	""	""
"0000717800"	"00012010"	"50"	"1144"	"0"	"1144"	"0"	"c.1144G>T"	"r.(?)"	"p.(Ala382Ser)"	""	""
"0000717801"	"00012010"	"30"	"1340"	"0"	"1340"	"0"	"c.1340G>A"	"r.(?)"	"p.(Arg447Gln)"	""	""
"0000717802"	"00012010"	"50"	"1789"	"0"	"1789"	"0"	"c.1789G>A"	"r.(?)"	"p.(Glu597Lys)"	""	""
"0000717803"	"00012010"	"50"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Glu792Lys)"	""	""
"0000730618"	"00012010"	"90"	"1801"	"0"	"1801"	"0"	"c.1801G>C"	"r.(?)"	"p.(Val601Leu)"	"13"	""
"0000730619"	"00012010"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"1i_19i"	""
"0000730793"	"00012010"	"90"	"2360"	"0"	"2360"	"0"	"c.2360G>A"	"r.(?)"	"p.(Gly787Asp)"	"18"	""
"0000730794"	"00012010"	"90"	"369"	"0"	"369"	"0"	"c.369C>G"	"r.(?)"	"p.(Tyr123*)"	"2"	""
"0000731493"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	""	""
"0000731494"	"00012010"	"50"	"676"	"0"	"676"	"0"	"c.676C>A"	"r.(?)"	"p.(Pro226Thr)"	""	""
"0000731516"	"00012010"	"70"	"2302"	"0"	"2302"	"0"	"c.2302G>A"	"r.(?)"	"p.(Ala768Thr)"	""	""
"0000731520"	"00012010"	"70"	"2482"	"0"	"2482"	"0"	"c.2482G>T"	"r.(?)"	"p.(Glu828*)"	""	""
"0000732465"	"00012010"	"50"	"61"	"3"	"61"	"3"	"c.61+3G>C"	"r.spl?"	"p.?"	""	""
"0000733081"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	""	""
"0000733082"	"00012010"	"70"	"2163"	"0"	"2163"	"0"	"c.2163T>A"	"r.(?)"	"p.(His721Gln)"	""	""
"0000733496"	"00012010"	"70"	"1404"	"0"	"1404"	"0"	"c.1404del"	"r.(?)"	"p.(Val469Leufs*8)"	""	""
"0000733541"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000733870"	"00012010"	"70"	"436"	"0"	"437"	"0"	"c.436_437del"	"r.(?)"	"p.(Gln146Valfs*5)"	""	""
"0000734344"	"00012010"	"70"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Thr99Serfs*8)"	""	""
"0000736071"	"00012010"	"70"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Thr99Serfs*8)"	""	""
"0000759900"	"00012010"	"50"	"20"	"0"	"20"	"0"	"c.20C>T"	"r.(?)"	"p.(Pro7Leu)"	""	""
"0000759989"	"00012010"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Ala264Gly)"	""	""
"0000760603"	"00012010"	"90"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	""	""
"0000760612"	"00012010"	"90"	"634"	"0"	"634"	"0"	"c.634A>C"	"r.(?)"	"p.(Thr212Pro)"	""	""
"0000784128"	"00012010"	"70"	"814"	"0"	"814"	"0"	"c.814G>A"	"r.(?)"	"p.(Val272Met)"	""	""
"0000784156"	"00012010"	"50"	"1451"	"-122"	"1451"	"-119"	"c.1451-122_1451-119dup"	"r.(=)"	"p.(=)"	""	""
"0000784413"	"00012010"	"70"	"2393"	"0"	"2393"	"0"	"c.2393T>A"	"r.(?)"	"p.(Met798Lys)"	""	""
"0000784524"	"00012010"	"50"	"1961"	"-4"	"1961"	"-4"	"c.1961-4dup"	"r.(=)"	"p.(=)"	""	""
"0000784527"	"00012010"	"50"	"1451"	"-122"	"1451"	"-119"	"c.1451-122_1451-119dup"	"r.(=)"	"p.(=)"	""	""
"0000784531"	"00012010"	"50"	"1451"	"-122"	"1451"	"-119"	"c.1451-122_1451-119dup"	"r.(=)"	"p.(=)"	""	""
"0000785396"	"00012010"	"90"	"1179"	"0"	"1179"	"0"	"c.1179dup"	"r.(?)"	"p.(Leu394SerfsTer3)"	""	""
"0000785571"	"00012010"	"50"	"539"	"0"	"543"	"0"	"c.539_543del"	"r.(?)"	"p.(Asn180ArgfsTer6)"	""	""
"0000786301"	"00012010"	"90"	"1297"	"-2"	"1297"	"-2"	"c.1297-2A>G"	"r.spl"	"p.?"	""	""
"0000787636"	"00012010"	"70"	"1691"	"-1"	"1691"	"-1"	"c.1691-1G>A"	"r.spl"	"p.?"	""	""
"0000788103"	"00012010"	"90"	"225"	"0"	"225"	"0"	"c.225del"	"r.(?)"	"p.(Gly76GlufsTer3)"	""	""
"0000788104"	"00012010"	"90"	"225"	"0"	"225"	"0"	"c.225del"	"r.(?)"	"p.(Gly76GlufsTer3)"	""	""
"0000788165"	"00012010"	"90"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.spl"	"p.(Gly484Ser)"	""	""
"0000788502"	"00012010"	"50"	"2710"	"0"	"2715"	"0"	"c.2710_2715del"	"r.(?)"	"p.(Ala904_Ser905del)"	"19"	""
"0000790450"	"00012010"	"50"	"773"	"0"	"773"	"0"	"c.773C>A"	"r.(?)"	"p.(Ala258Glu)"	""	""
"0000790453"	"00012010"	"50"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Arg909His)"	""	""
"0000790471"	"00012010"	"50"	"2435"	"0"	"2435"	"0"	"c.2435A>C"	"r.(?)"	"p.(Tyr812Ser)"	""	""
"0000790506"	"00012010"	"50"	"2360"	"0"	"2360"	"0"	"c.2360G>A"	"r.(?)"	"p.(Gly787Asp)"	""	""
"0000790522"	"00012010"	"50"	"1984"	"0"	"1984"	"0"	"c.1984C>G"	"r.(?)"	"p.(Gln662Glu)"	""	""
"0000791149"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	""
"0000791171"	"00012010"	"90"	"79"	"0"	"79"	"0"	"c.79G>T"	"r.(?)"	"p.(Glu27*)"	"2"	""
"0000791172"	"00012010"	"90"	"79"	"0"	"79"	"0"	"c.79G>T"	"r.(?)"	"p.(Glu27*)"	"2"	""
"0000791249"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	""
"0000791250"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	"2"	""
"0000792207"	"00012010"	"90"	"1961"	"0"	"1961"	"0"	"c.1961G>C"	"r.(?)"	"p.(Gly654Ala)"	"19"	""
"0000792208"	"00012010"	"90"	"1961"	"0"	"1961"	"0"	"c.1961G>C"	"r.(?)"	"p.(Gly654Ala)"	"19"	""
"0000792216"	"00012010"	"90"	"2487"	"-2"	"2487"	"-2"	"c.2487-2A>G"	"r.spl?"	"p.?"	"18i"	""
"0000792217"	"00012010"	"90"	"2487"	"-2"	"2487"	"-2"	"c.2487-2A>G"	"r.spl?"	"p.?"	"18i"	""
"0000792218"	"00012010"	"90"	"2487"	"-2"	"2487"	"-2"	"c.2487-2A>G"	"r.spl?"	"p.?"	"18i"	""
"0000792219"	"00012010"	"90"	"2487"	"-2"	"2487"	"-2"	"c.2487-2A>G"	"r.spl?"	"p.?"	"18i"	""
"0000792220"	"00012010"	"90"	"2487"	"-2"	"2487"	"-2"	"c.2487-2A>G"	"r.spl?"	"p.?"	"18i"	""
"0000793725"	"00012010"	"50"	"1179"	"0"	"1179"	"0"	"c.1179dup"	"r.(?)"	"p.(Ser394Glnfs*2)"	"12"	""
"0000793726"	"00012010"	"70"	"2531"	"0"	"2531"	"0"	"c.2531G>C"	"r.(?)"	"p.(Arg844Pro)"	"19"	""
"0000793961"	"00012010"	"70"	"2194"	"0"	"2194"	"0"	"c.2194C>T"	"r.(?)"	"p.(Arg732*)"	"19"	""
"0000794333"	"00012010"	"90"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Thr99Serfs*8)"	"2"	""
"0000794733"	"00012010"	"90"	"1335"	"0"	"1336"	"0"	"c.1335_1336del"	"r.(?)"	"p.(Ala446Serfs*28)"	""	""
"0000794971"	"00012010"	"50"	"1335"	"0"	"1336"	"0"	"c.1335_1336del"	"r.(?)"	"p.(Met445Ilefs*16)"	"13"	""
"0000796678"	"00012010"	"90"	"1530"	"0"	"1530"	"0"	"c.1530del"	"r.(?)"	"p.(Arg511Aspfs*15)"	"15"	""
"0000796679"	"00012010"	"90"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Ser115Arg)"	"6"	""
"0000796723"	"00012010"	"90"	"1786"	"0"	"1786"	"0"	"c.1786G>A"	"r.(?)"	"p.(Gly596Arg)"	"17"	""
"0000796743"	"00012010"	"90"	"1744"	"0"	"1751"	"0"	"c.1744_1751del"	"r.(?)"	"p.(Arg582*)"	"17"	""
"0000796744"	"00012010"	"90"	"1744"	"0"	"1751"	"0"	"c.1744_1751delinsT"	"r.(?)"	"p.(Arg582Leufs*10)"	"17"	""
"0000796755"	"00012010"	"90"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Gly484Ser)"	"15"	""
"0000796778"	"00012010"	"70"	"2435"	"0"	"2435"	"0"	"c.2435A>C"	"r.(?)"	"p.(Tyr812Ser)"	"19"	""
"0000797216"	"00012010"	"70"	"584"	"-1"	"584"	"-1"	"c.584-1G>T"	"r.spl"	"p.(?)"	""	""
"0000797691"	"00012010"	"70"	"345"	"0"	"345"	"0"	"c.345C>G"	"r.(?)"	"p.(Cys115Trp)"	""	""
"0000797692"	"00012010"	"90"	"-1"	"0"	"1144"	"1"	"c.(?_-1)_(1144+1_1145-1)del"	"r.(?)"	"p.(?)"	""	""
"0000797693"	"00012010"	"70"	"960"	"1"	"960"	"1"	"c.960+1G>A"	"r.spl"	"p.(?)"	""	""
"0000797696"	"00012010"	"70"	"-1"	"0"	"1144"	"1"	"c.(?_-1)_(1144+1_1145-1)del"	"r.(?)"	"p.(?)"	""	""
"0000797697"	"00012010"	"70"	"757"	"1"	"757"	"1"	"c.757+1G>A"	"r.spl"	"p.(?)"	""	""
"0000797698"	"00012010"	"70"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Gly484Ser)"	""	""
"0000798027"	"00012010"	"50"	"2305"	"0"	"2305"	"0"	"c.2305A>G"	"r.(?)"	"p.(Ile769Val)"	""	""
"0000798028"	"00012010"	"50"	"2060"	"0"	"2060"	"0"	"c.2060G>T"	"r.(?)"	"p.(Arg687Leu)"	""	""
"0000798029"	"00012010"	"70"	"62"	"-1"	"482"	"1"	"c.(61+1_62-1)_(482+1_483-1)dup"	"r.(?)"	"p.(?)"	""	""
"0000799630"	"00012010"	"30"	"231"	"0"	"231"	"0"	"c.231C>T"	"r.(?)"	"p.(Asn77=)"	""	""
"0000799631"	"00012010"	"30"	"552"	"0"	"552"	"0"	"c.552C>A"	"r.(?)"	"p.(Ile184=)"	""	""
"0000799632"	"00012010"	"50"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(Arg293Cys)"	""	""
"0000799633"	"00012010"	"30"	"1961"	"-4"	"1961"	"-4"	"c.1961-4dup"	"r.spl?"	"p.?"	""	""
"0000799634"	"00012010"	"70"	"2220"	"0"	"2220"	"0"	"c.2220G>A"	"r.(?)"	"p.(Ala740=)"	""	""
"0000799635"	"00012010"	"50"	"2872"	"0"	"2872"	"0"	"c.2872C>T"	"r.(?)"	"p.(Pro958Ser)"	""	""
"0000811430"	"00012010"	"70"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	""	""
"0000811431"	"00012010"	"70"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	""	""
"0000811432"	"00012010"	"70"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	""	""
"0000811433"	"00012010"	"70"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	""	""
"0000811839"	"00012010"	"70"	"2209"	"0"	"2209"	"0"	"c.2209G>C"	"r.(?)"	"p.(Val737Leu)"	""	""
"0000811935"	"00012010"	"70"	"436"	"0"	"437"	"0"	"c.436_437del"	"r.(?)"	"p.(Gln146Valfs*5)"	""	""
"0000812016"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.(?)"	"p.(?)"	"16i"	""
"0000812017"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.0"	"r.0?"	"p.0?"	""	""
"0000812023"	"00012010"	"70"	"2784"	"0"	"2785"	"0"	"c.2784_2785dup"	"r.(?)"	"p.(Tyr929Cysfs*4)"	"19"	""
"0000812115"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.(?)"	"p.(?)"	"16i"	""
"0000812266"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.(?)"	"p.(?)"	"16i"	""
"0000812484"	"00012010"	"70"	"390"	"0"	"390"	"0"	"c.390G>A"	"r.(?)"	"p.(Trp130*)"	"2"	""
"0000812624"	"00012010"	"90"	"2509"	"0"	"2509"	"0"	"c.2509del"	"r.(?)"	"p.(Trp837Glyfs*6)"	""	""
"0000812625"	"00012010"	"90"	"98"	"0"	"98"	"0"	"c.98del"	"r.(?)"	"p.(Pro33Argfs*31)"	""	""
"0000813187"	"00012010"	"70"	"1297"	"-2"	"1297"	"-2"	"c.1297-2A>G"	"r.spl?"	"p.?"	"12i"	""
"0000813205"	"00012010"	"30"	"482"	"698"	"482"	"698"	"c.482+698T>C"	"r.spl?"	"p.?"	"7i"	""
"0000813206"	"00012010"	"30"	"482"	"921"	"482"	"921"	"c.482+921G>C"	"r.spl?"	"p.?"	"7i"	""
"0000813207"	"00012010"	"30"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	"8"	""
"0000813208"	"00012010"	"30"	"2349"	"15"	"2349"	"15"	"c.2349+15T>A"	"r.spl?"	"p.?"	"19"	""
"0000813209"	"00012010"	"30"	"2350"	"-15"	"2350"	"-15"	"c.2350-15T>C"	"r.spl?"	"p.?"	"18i"	""
"0000813655"	"00012010"	"90"	"2079"	"0"	"2079"	"0"	"c.2079G>A"	"r.(?)"	"p.(Lys693=)"	""	""
"0000813711"	"00012010"	"90"	"1976"	"0"	"1976"	"0"	"c.1976delT"	"r.(?)"	"p.(Met659Argfs*11)"	""	""
"0000813750"	"00012010"	"90"	"346"	"0"	"349"	"0"	"c.346_349delTCAA"	"r.(?)"	"p.(Ile117Valfs*39)"	""	""
"0000814602"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000814787"	"00012010"	"90"	"845"	"-1"	"845"	"-1"	"c.845-1G>A"	"r.spl"	"p.?"	"5i"	""
"0000814817"	"00012010"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>A"	"r.(?)"	"p.(Val390Asp)"	"8"	""
"0000815346"	"00012010"	"70"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Gly484Ser)"	""	""
"0000815498"	"00012010"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.(?)"	"p.0"	""	""
"0000815568"	"00012010"	"50"	"436"	"0"	"436"	"0"	"c.436C>G"	"r.(?)"	"p.(Gln146Glu)"	""	""
"0000816063"	"00012010"	"70"	"2191"	"0"	"2486"	"0"	"c.2191_2486del"	"r.spl"	"p.(Leu731Valfs*2)"	""	""
"0000816161"	"00012010"	"70"	"483"	"-259"	"3752"	"0"	"c.483-259_(*752_?)del"	"r.spl"	"p.(?)"	""	""
"0000816165"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.-122_(61+4262_?){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000816465"	"00012010"	"90"	"1296"	"1"	"1296"	"1"	"c.1296+1G>A"	"r.spl"	"p.(?)"	""	""
"0000816470"	"00012010"	"90"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Arg844Cys)"	""	""
"0000816746"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""	""
"0000816747"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.(?)"	"p.(?)"	""	""
"0000817316"	"00012010"	"70"	"225"	"0"	"225"	"0"	"c.225delA"	"r.(?)"	"p.(Gly76Glufs*3)"	"2"	""
"0000818932"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.(482+1_483-1)_*504{0}"	"r.?"	"p.?"	"2i_19_"	""
"0000818933"	"00012010"	"70"	"263"	"0"	"263"	"0"	"c.263C>T"	"r.(?)"	"p.(Ala88Val)"	"5"	""
"0000818937"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.-122_(1144+1_1145-1){0}"	"r.0?"	"p.0?"	"_1_7i"	""
"0000818938"	"00012010"	"70"	"263"	"0"	"263"	"0"	"c.263C>T"	"r.(?)"	"p.(Ala88Val)"	"5"	""
"0000819794"	"00012010"	"70"	"961"	"-1"	"961"	"-1"	"c.961-1G>T"	"r.spl"	"p.(?)"	""	""
"0000819943"	"00012010"	"70"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	""	""
"0000820018"	"00012010"	"70"	"2507"	"0"	"2507"	"0"	"c.2507G>A"	"r.(?)"	"p.(Cys836Tyr)"	""	""
"0000820019"	"00012010"	"70"	"2507"	"0"	"2507"	"0"	"c.2507G>A"	"r.(?)"	"p.(Cys836Tyr)"	""	""
"0000820063"	"00012010"	"70"	"844"	"2"	"844"	"2"	"c.844+2dup"	"r.spl"	"p.(?)"	""	""
"0000820154"	"00012010"	"70"	"1689"	"0"	"1690"	"5"	"c.1689_1690+5delinsATATTA"	"r.spl?"	"p.0?"	""	""
"0000820527"	"00012010"	"70"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727*)"	""	""
"0000820723"	"00012010"	"70"	"2360"	"0"	"2360"	"0"	"c.2360G>A"	"r.(?)"	"p.(Gly787Asp)"	""	""
"0000820799"	"00012010"	"70"	"2360"	"0"	"2360"	"0"	"c.2360G>A"	"r.(?)"	"p.(Gly787Asp)"	""	""
"0000820826"	"00012010"	"70"	""	"0"	""	"0"	"p.0"	"r.0?"	"p.0?"	""	""
"0000821293"	"00012010"	"90"	"2164"	"0"	"2164"	"0"	"c.2164C>T"	"r.(?)"	"p.(Arg722*)"	""	""
"0000821294"	"00012010"	"70"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Arg844Cys)"	""	""
"0000821295"	"00012010"	"70"	"2179"	"0"	"2179"	"0"	"c.2179C>G"	"r.(?)"	"p.(Arg727Gly)"	""	""
"0000821572"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""	""
"0000821573"	"00012010"	"70"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	""	""
"0000822707"	"00012010"	"70"	"62"	"-1"	"3504"	"0"	"c.(61+1_62-1)_(*504_?)del"	"r.(?)"	"p.(?)"	"_2_19_,2"	""
"0000822708"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl"	"p.(?)"	"16"	""
"0000822709"	"00012010"	"70"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl"	"p.(?)"	"16"	""
"0000822752"	"00012010"	"70"	"369"	"0"	"369"	"0"	"c.369C>G"	"r.(?)"	"p.(Tyr123*)"	"2"	""
"0000822940"	"00012010"	"70"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	""	""
"0000822941"	"00012010"	"70"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738Trpfs*32)"	""	""
"0000822972"	"00012010"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.spl"	"p.(?)"	""	""
"0000822977"	"00012010"	"70"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Gln241*)"	""	""
"0000822979"	"00012010"	"70"	"845"	"-18"	"845"	"-18"	"c.845-18G>A"	"r.spl"	"p.(?)"	""	""
"0000823255"	"00012010"	"50"	"390"	"0"	"390"	"0"	"c.390G>A"	"r.(?)"	"p.(Trp130*)"	""	""
"0000823287"	"00012010"	"50"	"1605"	"-2"	"1605"	"-2"	"c.1605-2A>G"	"r.spl"	"p.(?)"	""	""
"0000825819"	"00012010"	"70"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Val100Alafs*13)"	"5"	""
"0000825908"	"00012010"	"70"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Val100Alafs*13)"	"5"	""
"0000825972"	"00012010"	"70"	"1296"	"1"	"1296"	"1"	"c.1296+1G>A"	"r.(?)"	"p.?"	"13i"	""
"0000825973"	"00012010"	"70"	"2323"	"0"	"2323"	"0"	"c.2323C>T"	"r.?"	"p.(Arg775*)"	"19"	""
"0000826090"	"00012010"	"70"	"225"	"0"	"225"	"0"	"c.225del"	"r.(?)"	"p.(Pro76Glnfs*3)"	"4"	""
"0000826091"	"00012010"	"70"	"2179"	"0"	"2179"	"0"	"c.2179C>G"	"r.?"	"p.(Arg727Gly)"	"19"	""
"0000826263"	"00012010"	"70"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Val100Alafs*13)"	"5"	""
"0000826264"	"00012010"	"70"	"755"	"0"	"755"	"0"	"c.755del"	"r.(?)"	"p.(Ser252Metfs*32)"	"8"	""
"0000826508"	"00012010"	"90"	"392"	"0"	"392"	"0"	"c.392G>A"	"r.(?)"	"p.(Gly131Asp)"	"6"	""
"0000827293"	"00012010"	"70"	"862"	"0"	"867"	"0"	"c.862_867del"	"r.(?)"	"p.(Val288_Thr289del)"	"9"	""
"0000827294"	"00012010"	"50"	"679"	"0"	"679"	"0"	"c.679G>T"	"r.(?)"	"p.(Val227Phe)"	"8"	""
"0000827295"	"00012010"	"90"	"1075"	"0"	"1076"	"0"	"c.1075_1076del"	"r.spl?"	"p.?"	"10"	""
"0000827296"	"00012010"	"70"	"2163"	"0"	"2163"	"0"	"c.2163T>A"	"r.(?)"	"p.(His721Gln)"	"19"	""
"0000827297"	"00012010"	"90"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Gln350*)"	"10"	""
"0000828769"	"00012010"	"90"	"1988"	"0"	"1989"	"0"	"c.1988_1989insAT"	"r.(?)"	"p.(Ile664Serfs*7)"	""	""
"0000828794"	"00012010"	"90"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Thr99Serfs*8)"	""	""
"0000828974"	"00012010"	"90"	"296"	"0"	"297"	"0"	"c.296_297del"	"r.(?)"	"p.(Thr99Serfs*8)"	""	""
"0000828999"	"00012010"	"50"	"499"	"0"	"499"	"0"	"c.499C>G"	"r.(?)"	"p.(Arg167Gly)"	""	""
"0000829698"	"00012010"	"90"	"-8163"	"0"	"1145"	"-1213"	"c.-8163_1145-1213del"	"r.?"	"p.?"	""	""
"0000834006"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834007"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834053"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834054"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834055"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834056"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834057"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834058"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834059"	"00012010"	"90"	"2189"	"1"	"2189"	"1"	"c.2189+1G>T"	"r.spl?"	"p.?"	"19"	""
"0000834060"	"00012010"	"70"	"-8162"	"0"	"1145"	"-1212"	"c.-8162_1145-1212del"	"r.spl?"	"p.?"	"1i_10i"	""
"0000834061"	"00012010"	"70"	"2309"	"0"	"2309"	"0"	"c.2309A>G"	"r.?"	"p.(Glu770Gly)"	"19"	""
"0000834062"	"00012010"	"70"	"-8162"	"0"	"1145"	"-1212"	"c.-8162_1145-1212del"	"r.spl?"	"p.?"	"1i_10i"	""
"0000834063"	"00012010"	"70"	"2309"	"0"	"2309"	"0"	"c.2309A>G"	"r.?"	"p.(Glu770Gly)"	"19"	""
"0000834064"	"00012010"	"70"	"1880"	"0"	"1880"	"0"	"c.1880C>A"	"r.?"	"p.(Ser627*)"	"18"	""
"0000834065"	"00012010"	"70"	"1459"	"0"	"1460"	"0"	"c.1459_1460del"	"r.(?)"	"p.(Asp487Leufs*57)"	"15"	""
"0000834066"	"00012010"	"70"	"392"	"0"	"392"	"0"	"c.392G>A"	"r.(?)"	"p.(Trp131*)"	"6"	""
"0000834067"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834068"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834069"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834070"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834075"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834076"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834077"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000834078"	"00012010"	"90"	"1647"	"0"	"1647"	"0"	"c.1647T>G"	"r.(=)"	"p.(Tyr549*)"	"16"	""
"0000841438"	"00012010"	"90"	"1335"	"0"	"1336"	"0"	"c.1335_1336del"	"r.(?)"	"p.(Ala446Serfs*28)"	""	""
"0000848921"	"00012010"	"30"	"276"	"0"	"276"	"0"	"c.276G>A"	"r.(?)"	"p.(Pro92=)"	""	""
"0000848922"	"00012010"	"90"	"844"	"2"	"844"	"2"	"c.844+2T>C"	"r.spl?"	"p.?"	""	""
"0000848923"	"00012010"	"30"	"2851"	"0"	"2851"	"0"	"c.2851G>A"	"r.(?)"	"p.(Ala951Thr)"	""	""
"0000857676"	"00012010"	"30"	"475"	"0"	"475"	"0"	"c.475T>A"	"r.(?)"	"p.(Ser159Thr)"	""	""
"0000857677"	"00012010"	"30"	"1273"	"0"	"1273"	"0"	"c.1273G>T"	"r.(?)"	"p.(Val425Leu)"	""	""
"0000883708"	"00012010"	"30"	"757"	"14"	"757"	"14"	"c.757+14G>A"	"r.(=)"	"p.(=)"	""	""
"0000896519"	"00012010"	"90"	"296"	"0"	"297"	"0"	"c.296_297delCA"	"r.(?)"	"p.(Thr99SerfsTer8)"	""	""
"0000896520"	"00012010"	"50"	"499"	"0"	"499"	"0"	"c.499C>G"	"r.(?)"	"p.(Arg167Gly)"	""	""
"0000896713"	"00012010"	"90"	"1988"	"0"	"1989"	"0"	"c.1988_1989insAT"	"r.(?)"	"p.(Ile664SerfsTer7)"	""	""
"0000896714"	"00012010"	"90"	"296"	"0"	"297"	"0"	"c.296_297delCA"	"r.(?)"	"p.(Thr99SerfsTer8)"	""	""
"0000915848"	"00012010"	"70"	"436"	"0"	"437"	"0"	"c.436_437del"	"r.(?)"	"p.(Gln146Valfs*5)"	"7"	""
"0000915913"	"00012010"	"50"	"343"	"0"	"343"	"0"	"c.343T>G"	"r.(?)"	"p.(Cys115Gly)"	"6"	""
"0000915914"	"00012010"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727*)"	"19"	""
"0000916083"	"00012010"	"90"	"1868"	"0"	"1868"	"0"	"c.1868T>A"	"r.(?)"	"p.(Leu623*)"	"18"	""
"0000916321"	"00012010"	"70"	"1744"	"0"	"1750"	"0"	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	"r.(?)"	"p.[(Ile582Glyfs*4);(Arg584Met)]"	"17"	""
"0000916322"	"00012010"	"90"	"2323"	"0"	"2323"	"0"	"c.2323C>T"	"r.(?)"	"p.(Arg775*)"	"19"	""
"0000916350"	"00012010"	"50"	"2060"	"0"	"2060"	"0"	"c.2060G>T"	"r.(?)"	"p.(Arg687Leu)"	"19"	""
"0000916351"	"00012010"	"50"	"2305"	"0"	"2305"	"0"	"c.2305A>G"	"r.(?)"	"p.(Ile769Val)"	"19"	""
"0000916357"	"00012010"	"50"	"1297"	"-1"	"1960"	"1"	"c.(1296+1_1297-1)_(1960+1_1961-1)dup"	"r.?"	"p.(Lys433Valfs*4)"	""	""
"0000916358"	"00012010"	"90"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	"19"	""
"0000916388"	"00012010"	"90"	""	"0"	""	"0"	"c.(1-?)_(1144+1_1145-1)del"	"r.?"	"p.(?)"	""	""
"0000916389"	"00012010"	"70"	"1744"	"0"	"1750"	"0"	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	"r.(?)"	"p.[(Ile582Glyfs*4);(Arg584Met)]"	"17"	""
"0000916420"	"00012010"	"90"	"1690"	"1"	"1690"	"1"	"c.1690+1G>A"	"r.spl?"	"p.(?)"	"17i"	""
"0000916421"	"00012010"	"70"	"1744"	"0"	"1750"	"0"	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	"r.(?)"	"p.[(Ile582Glyfs*4);(Arg584Met)]"	"17"	""
"0000916423"	"00012010"	"70"	"1744"	"0"	"1750"	"0"	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	"r.(?)"	"p.[(Ile582Glyfs*4);(Arg584Met)]"	"17"	""
"0000916449"	"00012010"	"90"	"1301"	"0"	"1302"	"0"	"c.1301_1302del"	"r.(?)"	"p.(Glu434Alafs*40)"	"13"	""
"0000916450"	"00012010"	"90"	"2302"	"0"	"2302"	"0"	"c.2302G>A"	"r.(?)"	"p.(Ala768Thr)"	"19"	""
"0000916483"	"00012010"	"70"	"1744"	"0"	"1750"	"0"	"c.[1744_1750del;1751G>T]; p.[(Ile582Glyfs*4);(Arg584Met)]"	"r.(?)"	"p.[(Ile582Glyfs*4);(Arg584Met)]"	"17"	""
"0000916546"	"00012010"	"50"	"2220"	"0"	"2220"	"0"	"c.2220G>A"	"r.(?)"	"p.(Ala740=)"	"19"	""
"0000916625"	"00012010"	"90"	""	"0"	""	"0"	"c.(482+1_483-1)_(*127+?)del"	"r.?"	"p.(Ser161Argfs*35)"	""	""
"0000916626"	"00012010"	"50"	"2498"	"0"	"2498"	"0"	"c.2498T>A"	"r.(?)"	"p.(Met833Lys)"	"19"	""
"0000916711"	"00012010"	"70"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Gly484Ser)"	"15"	""
"0000916741"	"00012010"	"70"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Gly484Ser)"	"15"	""
"0000916761"	"00012010"	"70"	"2194"	"0"	"2194"	"0"	"c.2194C>T"	"r.(?)"	"p.(Arg732*)"	"19"	""
"0000944535"	"00012010"	"90"	"1296"	"3581"	"1960"	"298"	"c.(?_1296+3581)_(1960+298_?)del"	"r.?"	"p.?"	"8i_14i"	""
"0000955396"	"00012010"	"70"	"2219"	"0"	"2219"	"0"	"c.2219C>T"	"r.(?)"	"p.(Ala740Val)"	""	""
"0000958065"	"00012010"	"70"	"1296"	"5"	"1296"	"5"	"c.1296+5G>A"	"r.spl?"	"p.?"	""	""
"0000958074"	"00012010"	"90"	"1744"	"0"	"1751"	"0"	"c.1744_1751delinsT"	"r.(?)"	"p.(Ile582Ter)"	""	""
"0000958327"	"00012010"	"90"	"1301"	"0"	"1302"	"0"	"c.1301_1302del"	"r.(?)"	"p.(Glu434AlafsTer40)"	""	""
"0000958358"	"00012010"	"90"	"1689"	"0"	"1690"	"5"	"c.1689_1690+5delinsATATTA"	"r.spl"	"p.?"	""	""
"0000958373"	"00012010"	"90"	"2163"	"0"	"2163"	"0"	"c.2163T>A"	"r.(?)"	"p.(His721Gln)"	""	""
"0000958613"	"00012010"	"70"	"2070"	"0"	"2074"	"0"	"c.2070_2074del"	"r.(?)"	"p.(Gly691LysfsTer42)"	""	""
"0000958925"	"00012010"	"90"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(?)"	"p.(Arg651Ter)"	""	""
"0000959089"	"00012010"	"90"	"1301"	"0"	"1302"	"0"	"c.1301_1302del"	"r.(?)"	"p.(Glu434AlafsTer40)"	""	""
"0000959362"	"00012010"	"50"	"2220"	"0"	"2220"	"0"	"c.2220G>A"	"r.spl?"	"p.(?,Ala740=)"	""	""
"0000987663"	"00012010"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Gln146Ter)"	""	""
"0000987664"	"00012010"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Gln146Ter)"	""	""
"0000987665"	"00012010"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Gln146Ter)"	""	""
"0000987666"	"00012010"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Gln146Ter)"	""	""
"0000987668"	"00012010"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Gln146Ter)"	""	""
"0000991558"	"00012010"	"90"	"2350"	"-2"	"2350"	"-2"	"c.2350-2A>C"	"r.spl?"	"p.?"	""	""
"0001019636"	"00012010"	"90"	"1451"	"-3"	"1451"	"-3"	"c.1451-3C>G"	"r.spl"	"p.?"	""	""
"0001019637"	"00012010"	"90"	"482"	"1593"	"24662"	"0"	"c.482+1593_*21662del"	"r.?"	"p.((Ser161*)"	"2i_19_"	""
"0001032315"	"00012010"	"50"	"2514"	"0"	"2514"	"0"	"c.2514A>C"	"r.(?)"	"p.(Arg838Ser)"	""	""
"0001032316"	"00012010"	"50"	"2958"	"0"	"2960"	"0"	"c.2958_2960del"	"r.(?)"	"p.(Leu986del)"	""	""
"0001048389"	"00012010"	"30"	"482"	"58"	"482"	"59"	"c.482+58_482+59insTTTATTTATTTATTTATTTATTTA"	"r.(?)"	"p.(?)"	""	""
"0001048790"	"00012010"	"30"	"482"	"51"	"482"	"58"	"c.482+51_482+58dup"	"r.(?)"	"p.(?)"	""	""
"0001048791"	"00012010"	"30"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.(?)"	"p.(Ala282Thr)"	""	""
"0001058895"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738TrpfsTer32)"	""	""
"0001058896"	"00012010"	"90"	"2214"	"0"	"2214"	"0"	"c.2214del"	"r.(?)"	"p.(Cys738TrpfsTer32)"	""	""
"0001059867"	"00012010"	"90"	"1843"	"0"	"1843"	"0"	"c.1843A>T"	"r.(?)"	"p.(Lys615*)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 388
"{{screeningid}}"	"{{variantid}}"
"0000001598"	"0000019500"
"0000001599"	"0000019501"
"0000088203"	"0000140632"
"0000100500"	"0000162799"
"0000105508"	"0000170949"
"0000145108"	"0000394542"
"0000156361"	"0000358283"
"0000174713"	"0000394544"
"0000174714"	"0000394545"
"0000174715"	"0000394546"
"0000174716"	"0000394547"
"0000174717"	"0000394548"
"0000174718"	"0000394549"
"0000174719"	"0000394550"
"0000174720"	"0000394551"
"0000174721"	"0000394552"
"0000174721"	"0000394625"
"0000174722"	"0000394553"
"0000174723"	"0000394554"
"0000174724"	"0000394555"
"0000174725"	"0000394556"
"0000174726"	"0000394557"
"0000174726"	"0000394626"
"0000174727"	"0000394558"
"0000174727"	"0000394627"
"0000174728"	"0000394559"
"0000174728"	"0000394628"
"0000174730"	"0000394561"
"0000174730"	"0000394629"
"0000174731"	"0000394562"
"0000174732"	"0000394563"
"0000174733"	"0000394564"
"0000174735"	"0000394566"
"0000174736"	"0000394567"
"0000174737"	"0000394568"
"0000174737"	"0000394630"
"0000174738"	"0000394569"
"0000174739"	"0000394570"
"0000174739"	"0000394631"
"0000174740"	"0000394571"
"0000174741"	"0000394572"
"0000174742"	"0000394573"
"0000174743"	"0000394574"
"0000174744"	"0000394575"
"0000174745"	"0000394576"
"0000174745"	"0000394632"
"0000174746"	"0000394577"
"0000174746"	"0000394633"
"0000174747"	"0000394578"
"0000174748"	"0000394579"
"0000174749"	"0000394580"
"0000174750"	"0000394581"
"0000174751"	"0000394582"
"0000174753"	"0000394584"
"0000174754"	"0000394585"
"0000174755"	"0000394586"
"0000174756"	"0000394587"
"0000174757"	"0000394588"
"0000174758"	"0000394589"
"0000174758"	"0000394634"
"0000174759"	"0000394590"
"0000174760"	"0000394591"
"0000174761"	"0000394592"
"0000174762"	"0000394593"
"0000174763"	"0000394594"
"0000174764"	"0000394595"
"0000174765"	"0000394596"
"0000174766"	"0000394597"
"0000174767"	"0000394598"
"0000174768"	"0000394599"
"0000174769"	"0000394600"
"0000174770"	"0000394601"
"0000174771"	"0000394602"
"0000174772"	"0000394603"
"0000174772"	"0000394635"
"0000174773"	"0000394604"
"0000174773"	"0000394636"
"0000174774"	"0000394605"
"0000174775"	"0000394606"
"0000174775"	"0000394637"
"0000174775"	"0000394638"
"0000174776"	"0000394607"
"0000174776"	"0000394639"
"0000174776"	"0000784128"
"0000174777"	"0000394608"
"0000174777"	"0000394640"
"0000174778"	"0000394609"
"0000174779"	"0000394610"
"0000174780"	"0000394611"
"0000174781"	"0000394612"
"0000174782"	"0000394613"
"0000174782"	"0000394641"
"0000174783"	"0000394614"
"0000174784"	"0000394615"
"0000174785"	"0000394616"
"0000174785"	"0000394642"
"0000174786"	"0000394617"
"0000174787"	"0000394618"
"0000174788"	"0000394619"
"0000174789"	"0000394620"
"0000174790"	"0000394621"
"0000174791"	"0000394622"
"0000174792"	"0000394623"
"0000174793"	"0000394624"
"0000233425"	"0000476133"
"0000233426"	"0000476134"
"0000233427"	"0000476135"
"0000233428"	"0000476136"
"0000233429"	"0000476137"
"0000233430"	"0000476138"
"0000233431"	"0000476139"
"0000233432"	"0000476140"
"0000233433"	"0000476141"
"0000233434"	"0000476142"
"0000233435"	"0000476143"
"0000233436"	"0000476144"
"0000233437"	"0000476145"
"0000233438"	"0000476146"
"0000233439"	"0000476147"
"0000233440"	"0000476148"
"0000233441"	"0000476149"
"0000233442"	"0000476150"
"0000233443"	"0000476151"
"0000233444"	"0000476152"
"0000233445"	"0000476153"
"0000233446"	"0000476154"
"0000233447"	"0000476155"
"0000233448"	"0000476156"
"0000233449"	"0000476157"
"0000233450"	"0000476158"
"0000233451"	"0000476159"
"0000233452"	"0000476160"
"0000234740"	"0000477448"
"0000234741"	"0000477449"
"0000234742"	"0000477450"
"0000234743"	"0000477451"
"0000235578"	"0000478804"
"0000235578"	"0000478805"
"0000241558"	"0000487568"
"0000293399"	"0000650088"
"0000302794"	"0000666148"
"0000305812"	"0000669500"
"0000308963"	"0000683406"
"0000309664"	"0000684537"
"0000309665"	"0000684538"
"0000309760"	"0000684633"
"0000309784"	"0000684657"
"0000310366"	"0000685277"
"0000310367"	"0000685278"
"0000321002"	"0000703769"
"0000321031"	"0000703768"
"0000326631"	"0000710223"
"0000329230"	"0000713353"
"0000329531"	"0000713654"
"0000329531"	"0000713895"
"0000333194"	"0000730618"
"0000333194"	"0000730793"
"0000333195"	"0000730619"
"0000333195"	"0000730794"
"0000333730"	"0000731493"
"0000333730"	"0000731516"
"0000333731"	"0000731494"
"0000333731"	"0000731520"
"0000334580"	"0000732465"
"0000335072"	"0000733081"
"0000335073"	"0000733082"
"0000335073"	"0000733541"
"0000335487"	"0000733496"
"0000335487"	"0000733870"
"0000335650"	"0000734344"
"0000336626"	"0000736071"
"0000360172"	"0000759900"
"0000360189"	"0000759989"
"0000360571"	"0000760603"
"0000360571"	"0000760612"
"0000369584"	"0000784156"
"0000373904"	"0000784413"
"0000373927"	"0000784524"
"0000373959"	"0000784527"
"0000373978"	"0000784531"
"0000374604"	"0000785396"
"0000374746"	"0000785571"
"0000375040"	"0000786301"
"0000376103"	"0000787636"
"0000376495"	"0000788103"
"0000376496"	"0000788104"
"0000376496"	"0000788165"
"0000376630"	"0000788502"
"0000377956"	"0000790471"
"0000377966"	"0000790506"
"0000377969"	"0000790522"
"0000378000"	"0000790450"
"0000378003"	"0000790453"
"0000378394"	"0000791149"
"0000378416"	"0000791171"
"0000378416"	"0000791249"
"0000378417"	"0000791172"
"0000378417"	"0000791250"
"0000379125"	"0000792207"
"0000379126"	"0000792208"
"0000379134"	"0000792216"
"0000379135"	"0000792217"
"0000379136"	"0000792218"
"0000379137"	"0000792219"
"0000379138"	"0000792220"
"0000380580"	"0000793725"
"0000380581"	"0000793726"
"0000380768"	"0000793961"
"0000381047"	"0000794333"
"0000381332"	"0000794733"
"0000381510"	"0000794971"
"0000382816"	"0000796678"
"0000382816"	"0000796679"
"0000382838"	"0000796723"
"0000382848"	"0000796743"
"0000382848"	"0000796744"
"0000382853"	"0000796755"
"0000382862"	"0000796778"
"0000383177"	"0000797216"
"0000383536"	"0000797691"
"0000383537"	"0000797692"
"0000383538"	"0000797693"
"0000383540"	"0000797696"
"0000383540"	"0000797697"
"0000383541"	"0000797698"
"0000383775"	"0000798027"
"0000383775"	"0000798028"
"0000383776"	"0000798029"
"0000384669"	"0000811430"
"0000384670"	"0000811431"
"0000384671"	"0000811432"
"0000384672"	"0000811433"
"0000384998"	"0000811839"
"0000385066"	"0000811935"
"0000385138"	"0000812016"
"0000385138"	"0000812017"
"0000385141"	"0000812023"
"0000385200"	"0000812115"
"0000385293"	"0000812266"
"0000385436"	"0000812484"
"0000385545"	"0000812624"
"0000385545"	"0000812625"
"0000385970"	"0000813187"
"0000385988"	"0000813205"
"0000385989"	"0000813206"
"0000385990"	"0000813207"
"0000385991"	"0000813208"
"0000385992"	"0000813209"
"0000386248"	"0000813655"
"0000386248"	"0000813750"
"0000386304"	"0000813711"
"0000386844"	"0000814602"
"0000386964"	"0000814787"
"0000386964"	"0000814817"
"0000387462"	"0000815346"
"0000387462"	"0000815498"
"0000387507"	"0000815568"
"0000387905"	"0000816063"
"0000388003"	"0000816161"
"0000388003"	"0000816465"
"0000388007"	"0000816165"
"0000388007"	"0000816470"
"0000388286"	"0000816746"
"0000388287"	"0000816747"
"0000388618"	"0000817316"
"0000389713"	"0000818932"
"0000389713"	"0000818933"
"0000389716"	"0000818937"
"0000389716"	"0000818938"
"0000390449"	"0000819794"
"0000390449"	"0000820723"
"0000390598"	"0000819943"
"0000390673"	"0000820018"
"0000390674"	"0000820019"
"0000390718"	"0000820063"
"0000390718"	"0000820799"
"0000390809"	"0000820154"
"0000390809"	"0000820826"
"0000391182"	"0000820527"
"0000391544"	"0000821293"
"0000391544"	"0000821572"
"0000391545"	"0000821294"
"0000391546"	"0000821295"
"0000391546"	"0000821573"
"0000392416"	"0000822707"
"0000392416"	"0000822752"
"0000392417"	"0000822708"
"0000392418"	"0000822709"
"0000392597"	"0000822940"
"0000392598"	"0000822941"
"0000392598"	"0000822977"
"0000392629"	"0000822972"
"0000392629"	"0000822979"
"0000392820"	"0000823255"
"0000392820"	"0000823287"
"0000394791"	"0000825819"
"0000394850"	"0000825908"
"0000394893"	"0000825972"
"0000394893"	"0000825973"
"0000394967"	"0000826090"
"0000394967"	"0000826091"
"0000395079"	"0000826263"
"0000395079"	"0000826264"
"0000395249"	"0000826508"
"0000395855"	"0000827293"
"0000395855"	"0000827294"
"0000395856"	"0000827295"
"0000395857"	"0000827296"
"0000395858"	"0000827297"
"0000397023"	"0000828769"
"0000397023"	"0000828974"
"0000397048"	"0000828794"
"0000397048"	"0000828999"
"0000397650"	"0000829698"
"0000400978"	"0000834006"
"0000400979"	"0000834007"
"0000401016"	"0000834053"
"0000401017"	"0000834054"
"0000401018"	"0000834055"
"0000401019"	"0000834056"
"0000401020"	"0000834057"
"0000401021"	"0000834058"
"0000401022"	"0000834059"
"0000401023"	"0000834060"
"0000401023"	"0000834061"
"0000401024"	"0000834062"
"0000401024"	"0000834063"
"0000401025"	"0000834064"
"0000401026"	"0000834065"
"0000401027"	"0000834066"
"0000401028"	"0000834067"
"0000401029"	"0000834068"
"0000401030"	"0000834069"
"0000401031"	"0000834070"
"0000401032"	"0000834075"
"0000401033"	"0000834076"
"0000401034"	"0000834077"
"0000401035"	"0000834078"
"0000405350"	"0000841438"
"0000421746"	"0000896519"
"0000421746"	"0000896520"
"0000421882"	"0000896713"
"0000421882"	"0000896714"
"0000430944"	"0000915848"
"0000430992"	"0000915913"
"0000430992"	"0000915914"
"0000431116"	"0000916083"
"0000431262"	"0000916321"
"0000431262"	"0000916322"
"0000431280"	"0000916350"
"0000431280"	"0000916351"
"0000431284"	"0000916357"
"0000431284"	"0000916358"
"0000431304"	"0000916388"
"0000431304"	"0000916389"
"0000431326"	"0000916420"
"0000431326"	"0000916421"
"0000431328"	"0000916423"
"0000431346"	"0000916449"
"0000431346"	"0000916450"
"0000431368"	"0000916483"
"0000431409"	"0000916546"
"0000431457"	"0000916625"
"0000431457"	"0000916626"
"0000431518"	"0000916711"
"0000431536"	"0000916741"
"0000431554"	"0000916761"
"0000443147"	"0000944535"
"0000443147"	"0000955396"
"0000448579"	"0000958065"
"0000448588"	"0000958074"
"0000448841"	"0000958327"
"0000448841"	"0000958613"
"0000448872"	"0000958358"
"0000448887"	"0000958373"
"0000448910"	"0000959089"
"0000449158"	"0000958925"
"0000449158"	"0000959362"
"0000453150"	"0000987663"
"0000453151"	"0000987664"
"0000453152"	"0000987665"
"0000453153"	"0000987666"
"0000453155"	"0000987668"
"0000460624"	"0001019636"
"0000460624"	"0001019637"
"0000470773"	"0001058895"
"0000470774"	"0001058896"
"0000471655"	"0001059867"