### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CEP290)
# 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}}"
"CEP290"	"centrosomal protein 290kDa"	"12"	"q21.33"	"unknown"	"NG_008417.2"	"UD_132085333270"	"{PMID:Baala 2007:17564974}"	"http://www.LOVD.nl/CEP290"	"CEP290 database Gent <http://medgen.ugent.be/cep290base/#overview>"	"1"	"29021"	"80184"	"610142"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/CEP290_NM_025114.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font<<br>b>NOTE:</b><font color=\"#FF0000\"> most of the data displayed derive from the <a href=\"http://medgen.ugent.be/cep290base/#overview\">CEP290 gene variant database</a> and link directly to their original source.</font>"	"-1"	""	"-1"	"00002"	"2010-04-29 00:00:00"	"00006"	"2019-12-05 10:44:15"	"00006"	"2025-10-07 16:27:42"


## 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}}"
"00000021"	"CEP290"	"centrosomal protein 290kDa"	"001"	"NM_025114.3"	""	"NP_079390.3"	""	""	""	"-344"	"7611"	"7440"	"88535993"	"88442790"	"00002"	"2012-05-11 13:11:51"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 23
"{{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"	""	""
"00002"	"JBTS1"	"Joubert syndrome, type 1 (JBTS1)"	"AR"	"213300"	""	""	""	"00006"	"2012-05-17 22:47:36"	"00006"	"2021-12-10 21:51:32"
"00063"	"MKS4"	"Meckel syndrome, type 4"	"AR"	"611134"	""	""	""	"00015"	"2012-10-17 13:21:33"	"00006"	"2023-11-30 09:00:12"
"00078"	"MKS1"	"Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)"	"AR"	"249000"	""	""	""	"00015"	"2012-11-09 15:11:48"	"00006"	"2021-12-10 21:51:32"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"00700"	"JBTS5"	"Joubert syndrome, type 5 (JBTS-5)"	"AR"	"610188"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00701"	"SLSN6"	"Senior-Loken syndrome, type 6 (SLSN-6)"	"AR"	"610189"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00702"	"LCA10"	"Leber congenital amaurosis, type 10 (LCA-10)"	""	"611755"	""	""	""	"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"	""	""
"04212"	"BBS"	"Bardet-Biedl syndrome (BBS)"	""	""	""	""	""	"00006"	"2015-02-27 19:01:43"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04405"	"BBS14"	"Bardet-Biedl syndrome?, type 14 (BBS-14)"	"AR"	"615991"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""
"05356"	"ataxia"	"ataxia"	""	""	""	""	""	"00006"	"2017-12-21 19:14:03"	""	""
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05463"	"trichromacy"	"trichromacy, oligocone"	""	""	""	""	""	"00006"	"2018-07-30 21:10:25"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"05578"	"MKS"	"Meckel syndrome (MKS, Meckel-Gruber syndrome)"	""	""	""	""	""	"00006"	"2019-02-22 22:26:27"	"00006"	"2021-12-10 21:51:32"
"05676"	"Arima syndrome"	"Arima syndrome"	""	"243910"	""	""	""	"00006"	"2019-12-05 10:46:05"	"00006"	"2021-12-10 21:51:32"
"05992"	"CHAPLE"	"Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy"	"AR"	"226300"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{geneid}}"	"{{diseaseid}}"
"CEP290"	"00063"
"CEP290"	"00139"
"CEP290"	"00700"
"CEP290"	"00701"
"CEP290"	"00702"
"CEP290"	"04405"
"CEP290"	"05109"
"CEP290"	"05463"
"CEP290"	"05676"


## Individuals ## Do not remove or alter this header ##
## Count = 939
"{{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}}"
"00000023"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000087"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00028919"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-58 Pat8"
"00028923"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-45 Pat12"
"00033079"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00033080"	""	""	""	"1"	""	"00006"	""	""	""	""	"France"	""	"0"	""	""	""	""
"00033081"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Pakistan"	""	"0"	""	""	""	""
"00033082"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033083"	""	""	""	"83"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033084"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033085"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033086"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033134"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033143"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033191"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033192"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033193"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033194"	""	""	""	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	""	""	""	"France"	""	"0"	""	""	""	"Fam5Pat407"
"00033195"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033196"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033197"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033198"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033199"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033200"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033201"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033202"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033203"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033204"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033205"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033206"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033208"	""	""	""	"2"	""	"00006"	"{PMID:Baala 2007:17564974}"	"family, 2 affected"	""	""	"France;Tunisia"	""	"0"	""	""	""	"Fam4Pat304"
"00033209"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033210"	""	""	""	"2"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F11"
"00033211"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033212"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033213"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033214"	""	""	""	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	"family, 2 affected sibs"	""	""	"France"	""	"0"	""	""	""	"Fam10Pat03/485/Pat05/158"
"00033215"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033216"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033217"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033218"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033219"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033220"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033221"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033222"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033223"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033224"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033225"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033226"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033227"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033228"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033229"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033230"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033231"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033232"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033233"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033234"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033235"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033236"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033237"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033238"	""	""	""	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	""	""	""	"France"	""	"0"	""	""	""	"Fam7Pat387"
"00033239"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033240"	""	""	""	"82"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033241"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033242"	""	""	""	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	""	""	""	"Palestine"	""	"0"	""	""	""	"Fam8Pat712"
"00033243"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033244"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033245"	""	""	""	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	""	""	""	"Tunisia"	""	"0"	""	""	""	"Fam2Pat312"
"00033246"	""	""	""	"3"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033247"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033248"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033249"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033250"	""	""	""	"3"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033251"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033252"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033254"	""	""	""	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	""	""	""	""	""	"0"	""	""	""	"Fam6Pat650"
"00033255"	""	""	""	"3"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033256"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033257"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033258"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033259"	""	""	""	"3"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033260"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033261"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033262"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033264"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033265"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033266"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033267"	""	""	""	"6"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033268"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033269"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033270"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033271"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033272"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033273"	""	""	""	"16"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033274"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033275"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033276"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033277"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033278"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033279"	""	""	""	"5"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033280"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033281"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033282"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033283"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033284"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033285"	""	""	""	"5"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033286"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033287"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033288"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033289"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033290"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033291"	""	""	""	"4"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033292"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033293"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033294"	""	""	""	"5"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033295"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033296"	""	""	""	"2"	""	"00006"	"{PMID:Baala 2007:17564974}"	"family, 2 affected"	""	""	"France"	""	"0"	""	""	""	"Fam9Pat380/381"
"00033297"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033298"	""	""	""	"11"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033299"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033300"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033301"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033302"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033303"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033304"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033305"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033306"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033307"	""	""	""	"5"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM9"
"00033308"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033309"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033310"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033311"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033312"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033313"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033315"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F13"
"00033316"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033317"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033318"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033319"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033320"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033321"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033322"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033323"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033324"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033325"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033326"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033327"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033328"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033329"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033330"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033331"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033332"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033333"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033334"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00033335"	""	""	""	"1"	""	"00010"	""	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00033336"	""	""	""	"1"	""	"00010"	""	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00050657"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00056052"	""	""	""	"1"	""	"00552"	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00080878"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00100094"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61166"
"00104996"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2016:28005958}"	""	"F"	"?"	"Venezuela"	""	"0"	""	""	""	"65ORG"
"00117374"	""	""	""	"2"	""	"02230"	"{PMID:Roosing 2017:28829391}"	"family, two affected siblings, hetorozygous carrier parents"	"F"	"?"	"Netherlands"	""	"0"	"yes"	"none"	"white"	"28829391-FamPat1"
"00117375"	""	""	"00117374"	"1"	""	"02230"	"{PMID:Roosing 2017:28829391}"	"sibling"	"M"	"no"	"Netherlands"	""	"0"	""	"none"	"white"	"28829391-FamPat2"
"00155407"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00155408"	""	""	""	"3"	""	"01243"	"Sharon, submitted"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00155409"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00155410"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Beduin"	""
"00173831"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2014b:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"21"
"00207484"	""	""	""	"1"	""	"01244"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00207486"	""	""	""	"1"	""	"01244"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00207492"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00207588"	""	""	""	"1"	""	"01244"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00207619"	""	""	""	"2"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00207661"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00240427"	""	""	""	"1"	""	"03335"	""	""	"M"	""	"Mexico"	""	"0"	""	""	""	""
"00269436"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00269437"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00269438"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00269439"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00269440"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	"01y"	"0"	""	""	""	""
"00269470"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00269589"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269590"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269767"	""	""	""	"2"	""	"00006"	"{PMID:Itoh 2018:29217415}"	"2-generation family, 2 affected (2F)"	"F"	""	"Japan"	""	"0"	""	""	""	"FamAS1PatII1"
"00269768"	""	""	"00269767"	"1"	""	"00006"	"{PMID:Itoh 2018:29217415}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"FamAS1PatII2"
"00269769"	""	""	""	"1"	""	"00006"	"{PMID:Itoh 2018:29217415}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"FamAS2PatII1"
"00269770"	""	""	""	"2"	""	"00006"	"{PMID:Itoh 2018:29217415}"	"2-generation family, 2 affected (2F)"	"F"	""	"Japan"	""	"0"	""	""	""	"FamAS3PatII1"
"00269772"	""	""	""	"2"	""	"00006"	"{PMID:Tsurusaki 2013:23034536}"	"3-generation family, 2 affected sister/brother, unaffected heterozygous carrier parents"	"F;M"	""	"Japan"	""	"0"	""	""	""	"Fam2"
"00269774"	""	""	""	"1"	""	"00006"	"{PMID:Tsurusaki 2013:23034536}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Japan"	""	"0"	""	""	""	"Fam4"
"00269775"	""	""	""	"1"	""	"00006"	"{PMID:Tsurusaki 2013:23034536}"	"2-generation family, 1 affected"	"M"	""	"Japan"	""	"0"	""	""	""	"Fam5"
"00269969"	""	""	""	"1"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	""	""	"0"	""	""	""	"Fam10P13"
"00290806"	""	""	""	"10"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290807"	""	""	""	"76"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290808"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290809"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290810"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290811"	""	""	""	"36"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290812"	""	""	""	"89"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290813"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290814"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290815"	""	""	""	"17"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290816"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295362"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295372"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295506"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00300598"	""	""	""	"1"	""	"01848"	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Italy"	""	"0"	""	""	""	"Fam20P24"
"00304383"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304384"	""	""	""	"5"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308492"	""	""	""	"3"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"3 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308493"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00309028"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309029"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309030"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309031"	""	""	""	"3"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"3 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00315483"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Turkey"	""	"0"	""	""	"syrian"	"171768"
"00325491"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"single patient"	""	""	"Mexico"	""	"0"	""	""	""	"3593"
"00327922"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240036"
"00328027"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G001301"
"00328030"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001347"
"00331353"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"10DG1030"
"00331354"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"10DG1250"
"00331355"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"11DG0364"
"00331356"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"11DG0512"
"00331357"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"11DG1272"
"00331358"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"12DG1317"
"00331735"	""	""	""	"1"	""	"00000"	"{PMID:Sanchez-Navarro 2018:29588463}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-1814"
"00332188"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB165"
"00332189"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB290"
"00332265"	""	""	""	"4"	""	"00000"	"{PMID:Porto 2017:29186038}"	"3-generation family, 3 affected (F, 3M)"	"F;M"	""	"Brazil"	""	"0"	""	""	""	"Fam9PatFBP_29"
"00332273"	""	""	""	"7"	""	"00000"	"{PMID:Porto 2017:29186038}"	"5-generation family, 7 affected (4F, 3M)"	"F;M"	""	"Brazil"	""	"0"	""	""	""	"Fam24PatFBP_62"
"00332275"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam35PatFBP_173"
"00332347"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam623"
"00332348"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1015"
"00332349"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1212"
"00332350"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1576"
"00332351"	""	""	""	"2"	""	"00000"	"{PMID:Thompson 2017:29178642}"	"family, 2 affected"	""	""	"Australia"	""	"0"	""	""	""	"Fam1950"
"00332390"	""	""	""	"1"	""	"00000"	"{PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat11"
"00332391"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat7;Pat12;Pat12"
"00332460"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat23"
"00332464"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat31"
"00332473"	""	""	""	"1"	""	"00006"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat14"
"00332474"	""	""	""	"1"	""	"00006"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat26"
"00332475"	""	""	""	"1"	""	"00006"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat34"
"00333353"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat9"
"00333360"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat14"
"00333461"	""	""	""	"1"	""	"00000"	"{PMID:Soens 2017:28714225}"	"possible duplicate"	""	""	""	""	"0"	""	""	""	"ZPQ_028"
"00333462"	""	""	""	"1"	""	"00000"	"{PMID:Soens 2017:28714225}"	"possible duplicate"	""	""	""	""	"0"	""	""	""	"ZPQ_080"
"00333472"	""	""	""	"1"	""	"00000"	"{PMID:Soens 2017:28714225}"	"possible duplicate"	""	""	""	""	"0"	""	""	""	"285"
"00333812"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"8"
"00333813"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"9"
"00333895"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"262"
"00333896"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"263"
"00333932"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"390"
"00333933"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"391"
"00333934"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"392"
"00333935"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"393"
"00333936"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"394"
"00333937"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"395"
"00333942"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"403"
"00333943"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"404"
"00333944"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"405"
"00333945"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"406"
"00333966"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"430"
"00333967"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"431"
"00333968"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"432"
"00334099"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"633"
"00335096"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"5502"
"00335097"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"8389"
"00335244"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/11"
"00335261"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"family"	""	""	"Spain"	""	"0"	""	""	""	"Pat27"
"00335262"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"family"	""	""	"Spain"	""	"0"	""	""	""	"Pat61"
"00335263"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat93"
"00335264"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Pat119"
"00335333"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat110"
"00335334"	""	""	""	"1"	""	"02485"	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat28"
"00335444"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP001"
"00335478"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD010"
"00335479"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD066"
"00335480"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD072"
"00335535"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2017:28118666}"	""	""	""	"China"	""	"0"	""	""	""	"Fam2PatII1"
"00335537"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2017:28118666}"	""	""	""	"China"	""	"0"	""	""	""	"Fam3PatII1"
"00358817"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand 2016:27486776}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	"44/311"
"00358845"	""	""	""	"2"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"family, 2 affected siblings"	""	"no"	"Japan"	""	"0"	""	""	""	"Fam2Pat1"
"00358847"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam4"
"00358848"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam5"
"00358851"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"family, mother Japan/Paraguay, father Paraguay"	""	"no"	"Japan;Paraguay"	""	"0"	""	""	""	"Fam9"
"00358852"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam10"
"00358855"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam13"
"00358865"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam25"
"00358870"	""	""	"00358845"	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"sibling"	""	"no"	"Japan"	""	"0"	""	""	""	"Fam2Pat2"
"00358893"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents/relatives"	""	""	"China"	""	"0"	""	""	"Han"	"Fam5"
"00358894"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam6"
"00358895"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam7"
"00358896"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam8"
"00358897"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous father"	""	""	"China"	""	"0"	""	""	"Han"	"Fam9"
"00358950"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71876"
"00358965"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case13730"
"00358966"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case30421"
"00359040"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12014678"
"00359052"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13009772"
"00359058"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13001467"
"00359061"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13010893"
"00359063"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13003353"
"00359081"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12013710"
"00359084"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12006834"
"00359085"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12009433"
"00359086"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13005926"
"00359092"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12004181"
"00359096"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12007217"
"00359186"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12002965"
"00359328"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27160483}"	"see paper"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"22588"
"00359378"	""	""	""	"1"	""	"00000"	"{PMID:Bravo-Gil 2016:27032803}"	"see paper"	""	""	"Spain"	""	"0"	""	""	""	"193"
"00362087"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"RP41"
"00362934"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"RCD500"
"00362939"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"patient"	""	""	"Germany"	""	"0"	""	""	""	"LCA89"
"00363396"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM654"
"00363451"	""	""	""	"1"	""	"00000"	"{PMID:Ge 2015:26667666}"	"simplex case"	""	""	"United States"	""	"0"	""	""	""	"5WY+Y.91"
"00363562"	""	""	""	"2"	""	"00000"	"{PMID:Srour 2015:26477546}"	"family, 2 affected"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam621Pat1767,621"
"00363563"	""	""	"00363562"	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	"relative"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam621Fetus2.621"
"00363623"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"10DG1030"
"00372062"	""	""	""	"1"	""	"00000"	"{PMID:Vamos 2016:26165328}"	""	""	""	"Hungary"	""	"0"	""	""	""	"CEP290-Pat1"
"00372223"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW002-3"
"00372224"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW008-3"
"00372225"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW013-3"
"00372226"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW013-4"
"00372227"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW016-1"
"00372228"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW020-3"
"00372229"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW029-3"
"00372230"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW032-3"
"00372231"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW040-3"
"00372232"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW045-3"
"00372233"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW211-3"
"00372234"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW219-3"
"00372235"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW220-3"
"00372236"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW240-3"
"00372237"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW241-3"
"00372238"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW241-6"
"00372239"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW241-7"
"00372240"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW244-3"
"00372241"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW244-4"
"00372242"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW246-3"
"00372243"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW250-3"
"00372244"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW254-3"
"00372245"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW259-3"
"00372246"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW263-3"
"00372247"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW269-3"
"00372248"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW280-3"
"00372249"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW281-3"
"00372250"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW282-3"
"00372251"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW282-4"
"00372252"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW286-3"
"00372253"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW303-3"
"00372254"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW316-3"
"00372376"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW136-3"
"00372377"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW136-4a"
"00372405"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"614"
"00372420"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"89"
"00372421"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"137"
"00372422"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"145"
"00372423"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"161"
"00372424"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"499"
"00372425"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"698"
"00372460"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"138"
"00372461"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"624"
"00373381"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-43"
"00373388"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-60"
"00373390"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-62"
"00373752"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	"French"	""
"00373753"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	"Unknown 2nd variant"	""	""	"France"	""	"0"	""	""	"French"	""
"00373754"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	"French"	""
"00373755"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00373756"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	""	""
"00373757"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	""	""
"00373758"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"Argentina"	""	"0"	""	""	""	""
"00373759"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	"French"	""
"00373760"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	"French"	""
"00373763"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	"French"	""
"00373764"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	"yes"	"Morocco"	""	"0"	""	""	""	""
"00373766"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	""	""
"00373773"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	""	""
"00373774"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00373776"	""	""	""	"1"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	"France"	""	"0"	""	""	""	""
"00373778"	""	""	""	"2"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	""	""	"0"	""	""	""	""
"00373779"	""	""	""	"15"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	""	""	"0"	""	""	""	""
"00373780"	""	""	""	"15"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	""	""	"0"	""	""	""	""
"00373781"	""	""	""	"3"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	""	""	"0"	""	""	""	""
"00373783"	""	""	""	"8"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	""	""	"0"	""	""	""	""
"00373785"	""	""	""	"8"	""	"00008"	"{PMID:Tory 2007:17409309}"	""	""	""	""	""	"0"	""	""	""	""
"00373896"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-010-032"
"00373956"	""	""	""	"1"	""	"00000"	"{PMID:Shen 2015:25377065}"	""	"M"	""	"China"	""	"0"	""	""	""	"RP276"
"00374240"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1775"
"00374241"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1400"
"00374242"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1848"
"00374243"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4631"
"00374244"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2563"
"00374685"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5453"
"00374686"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5774"
"00374687"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5347"
"00374956"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"W169-1"
"00375430"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#024"
"00376287"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:18487375}"	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00376744"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"8"
"00376745"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"9"
"00376749"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"7"
"00376750"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"10"
"00376753"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"13"
"00376756"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"16"
"00376760"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"22"
"00376761"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"23"
"00376768"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"30"
"00376769"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"33"
"00376771"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"35"
"00376774"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"38"
"00376790"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"57"
"00376795"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"62"
"00376796"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"63"
"00377165"	""	""	""	"1"	""	"00000"	"{PMID:Tracewska 2020:33105651}"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"223"
"00377200"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"278"
"00377205"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"292"
"00377213"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"308"
"00377217"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"315"
"00377519"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE47"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE47"
"00377524"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE69"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE69"
"00377545"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family LCA2H"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"LCA2H"
"00377647"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 38"	"M"	""	"United States"	""	"0"	""	""	""	"480"
"00377648"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 40"	"M"	""	"United States"	""	"0"	""	""	""	"373"
"00377649"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 39"	"M"	""	"United States"	""	"0"	""	""	""	"552"
"00377650"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 41"	"M"	""	"United States"	""	"0"	""	""	""	"455"
"00377651"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 42"	"M"	""	"United States"	""	"0"	""	""	""	"412"
"00377652"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 43"	"F"	""	"United States"	""	"0"	""	""	""	"213"
"00377653"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 44"	"F"	""	"United States"	""	"0"	""	""	""	"441"
"00377695"	""	""	""	"1"	""	"00006"	"{PMID:Hopp 2011:21493627}"	"2-generation family, 1 affected fetus"	""	""	"United States"	""	"0"	""	""	""	"M456"
"00377751"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"heterozygous mutation identified in father"	""	""	"France"	""	"0"	""	""	""	""
"00377752"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"heterozygous mutation identified in mother and father"	""	""	"France"	""	"0"	""	""	""	""
"00377753"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"heterozygous mutation identified in mother"	""	""	"Turkey"	""	"0"	""	""	""	""
"00377754"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	""	""	"0"	""	""	"Pakistani"	""
"00377755"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00377756"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00377757"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"died 3 yrs"	""	""	"Germany"	""	"0"	""	""	""	""
"00377758"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"heterozygous mutation identified in father"	""	""	"India"	""	"0"	""	""	""	""
"00377759"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00377782"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"Poland"	""	"0"	""	""	""	""
"00377886"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"novel"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377898"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"novel"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377908"	""	""	""	"1"	""	"00000"	"{PMID:li 2011:21602930}"	"novel"	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00377918"	""	""	""	"1"	""	"00000"	"{PMID:Chaki 2011:21422230}"	""	""	""	""	""	"0"	""	""	""	""
"00378016"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SH_0006"
"00378020"	""	""	""	"1"	""	"03508"	""	""	"?"	""	""	""	""	""	""	""	""
"00379585"	""	""	""	"1"	""	"00000"	"{PMID:alazami-2012:22693042}"	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00379593"	""	""	""	"1"	""	"00000"	"{PMID:alazami-2012:22693042}"	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00379594"	""	""	""	"1"	""	"00000"	"{PMID:alazami-2012:22693042}"	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00379621"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi-2012:22848652}"	""	""	""	""	""	"0"	""	""	"Gujarati"	""
"00379622"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi-2012:22848652}"	""	""	""	""	""	"0"	""	""	"Gujarati"	""
"00379636"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0016"
"00379657"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0040"
"00379714"	""	""	""	"1"	""	"00000"	"{PMID:Wan 2018:30245926}"	""	"?"	""	"China"	""	"0"	""	""	"Han Chinese"	"R0031"
"00379756"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0102"
"00381025"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381026"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381027"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381039"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381040"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381045"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381183"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381184"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381185"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381186"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381201"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381202"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381203"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381204"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381205"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381206"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381207"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381596"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Austria"	""	"0"	""	""	""	""
"00381639"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Turkey"	""	"0"	""	""	""	""
"00381648"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Saudi Arabia"	""	"0"	""	""	""	""
"00381689"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Turkey"	""	"0"	""	""	""	""
"00381693"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381886"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"36"
"00381934"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30576320}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"3"
"00382247"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"76"
"00382248"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"77"
"00382513"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"375"
"00382514"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"376"
"00382515"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"377"
"00382516"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"378"
"00382652"	""	""	""	"1"	""	"00000"	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"?"	"no"	"Spain"	""	"0"	""	""	""	"T (II:1)"
"00382657"	""	""	""	"1"	""	"00000"	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"?"	"yes"	"Spain"	""	"0"	""	""	""	"Y (II:1)"
"00382658"	""	""	""	"1"	""	"00000"	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"?"	"no"	"Spain"	""	"0"	""	""	""	"Z (II:1)"
"00382844"	""	""	""	"2"	""	"00000"	"{PMID:Beryozkin-2014:24474277}"	""	""	"yes"	""	""	"0"	""	""	"Arab-Christian"	""
"00383207"	""	""	""	"1"	""	"00000"	"{PMID:Leitch-2008:18327255}"	""	"F"	"yes"	""	""	"0"	""	""	"Saudi Arabian"	""
"00383661"	""	""	""	"1"	""	"00000"	"{PMID:Manara 2019:31196119}"	""	"M"	""	""	""	"0"	""	""	""	"10"
"00383792"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18184076_B"
"00384099"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2295"
"00384107"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2350"
"00384218"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066891"
"00384285"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13417"
"00384349"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13857"
"00384404"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14319"
"00384803"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"2 unaffected siblings screened"	""	"no"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384812"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384819"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"1 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384989"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"10103"
"00385038"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19615"
"00385044"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19748"
"00385058"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"19973"
"00385065"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67050"
"00385066"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67060"
"00385068"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67090"
"00385069"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67110"
"00385157"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"44"
"00385158"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"45"
"00385160"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"48"
"00385233"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	""	""	"0"	""	""	""	""
"00386179"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-134, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-291"
"00386201"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-320"
"00386212"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-167, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-333"
"00386236"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-200, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-450"
"00386300"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-464"
"00386563"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"001-444"
"00386572"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"003-035"
"00386580"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"003-084"
"00386793"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2947_004532"
"00386869"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"003-390"
"00387411"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 1"	"?"	""	"India"	""	"0"	""	""	""	"1"
"00387412"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 2"	"?"	""	"India"	""	"0"	""	""	""	"2"
"00387413"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 3"	"?"	""	"India"	""	"0"	""	""	""	"3"
"00387414"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 4"	"?"	""	"India"	""	"0"	""	""	""	"4"
"00387415"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 5"	"?"	""	"India"	""	"0"	""	""	""	"5"
"00387416"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 6"	"?"	""	"India"	""	"0"	""	""	""	"6"
"00387417"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 7"	"?"	""	"India"	""	"0"	""	""	""	"7"
"00387418"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 8"	"?"	""	"India"	""	"0"	""	""	""	"8"
"00387419"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 9"	"?"	""	"India"	""	"0"	""	""	""	"9"
"00387420"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 10"	"?"	""	"India"	""	"0"	""	""	""	"10"
"00387421"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 11"	"?"	""	"India"	""	"0"	""	""	""	"11"
"00387422"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 12"	"?"	""	"India"	""	"0"	""	""	""	"12"
"00387423"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 13"	"?"	""	"India"	""	"0"	""	""	""	"13"
"00387424"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 14"	"?"	""	"India"	""	"0"	""	""	""	"14"
"00387533"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00387535"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00387536"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00387537"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00387603"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2016:26729329}"	""	""	""	""	""	"0"	""	""	""	""
"00388066"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"213"
"00388079"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"373"
"00388087"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"441"
"00388092"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"455"
"00388099"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"480"
"00388125"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"552"
"00388147"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"4;Pat9"
"00388148"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"5"
"00388149"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"6"
"00388150"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"7"
"00388151"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"8"
"00388152"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"9"
"00388181"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"38"
"00388182"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"39"
"00388578"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.087"
"00388858"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 61, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"142"
"00388859"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 61, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"143"
"00388863"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 62, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"147"
"00388896"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 69, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"180"
"00388952"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 82, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"236"
"00388953"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 82, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"237"
"00388973"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 87, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"257"
"00389013"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 99, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"297"
"00389034"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 105, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"318"
"00389041"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 106, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"325"
"00389154"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 140, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"438"
"00389155"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 140, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"439"
"00389190"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 154, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"474"
"00389597"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 368, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"881"
"00389761"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 613, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1045"
"00389762"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 618, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1046"
"00389829"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 760, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1113"
"00389867"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 817, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1151"
"00389923"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 922, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1207"
"00389969"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1037, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1253"
"00390026"	""	""	""	"1"	""	"00000"	"{PMID:Ruberto 2020:32507954}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"5"
"00390027"	""	""	""	"1"	""	"00000"	"{PMID:Ruberto 2020:32507954}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"7"
"00390206"	""	""	""	"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"	""	""	""	"G001301"
"00390207"	""	""	""	"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"	""	""	""	"G001347"
"00390762"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390769"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390863"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00391556"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"53"
"00391557"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"Asian"	"54"
"00391602"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"2"
"00391603"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"3"
"00391604"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"4"
"00391605"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"5"
"00391606"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"6"
"00391607"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"7"
"00391608"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"7"
"00391609"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"8"
"00391610"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"9"
"00391611"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"10"
"00391612"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"11"
"00391613"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"12"
"00391614"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"13"
"00391615"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"14"
"00391616"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"15"
"00391617"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"16"
"00391618"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"17"
"00391619"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"18"
"00391620"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"19"
"00391621"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"20"
"00391622"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"21"
"00391623"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"22"
"00391624"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"23"
"00391625"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"24"
"00391626"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"25"
"00391720"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"107"
"00391747"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"132"
"00391748"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"133"
"00391749"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"134"
"00391750"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"135"
"00392749"	""	""	""	"1"	""	"00000"	"{PMID:Beigi 2021:33741323}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	"II:1"
"00393708"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393811"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394369"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"LCA1"
"00394545"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394546"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00395771"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F263"
"00395807"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F208"
"00395827"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F018"
"00395828"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F106"
"00395829"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F003"
"00395847"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F302"
"00395912"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F075"
"00396208"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396209"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396210"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00396211"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396212"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00396218"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00396223"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396226"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00396228"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00397427"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family COR27, patient V:1"	"F"	""	"Italy"	""	"0"	""	""	"Sardinian"	"COR27_V:1"
"00397428"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family COR27, patient V:2"	"F"	""	"Italy"	""	"0"	""	""	"Sardinian"	"COR27_V:2"
"00397429"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family COR27, patient V:4"	"F"	""	"Italy"	""	"0"	""	""	"Sardinian"	"COR27_V:4"
"00397430"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family COR51, patient II:1"	"M"	""	"Turkey"	""	"0"	""	""	""	"COR51_II:1"
"00397431"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family COR51, patient II:2"	"M"	""	"Turkey"	""	"0"	""	""	""	"COR51_II:2"
"00397432"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family MTI133, patient II:1"	"M"	""	"Palestine"	"4m"	"0"	""	""	""	"MTI133_II:1"
"00397433"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family MTI133, patient II:2"	"M"	""	"Palestine"	"7m"	"0"	""	""	""	"MTI133_II:2"
"00397434"	""	""	""	"1"	""	"00000"	"{PMID:Valente 2006:16682970}"	"Family MK05, patient II:2"	"F"	""	"Turkey"	""	"0"	""	""	""	"MK05_II:2"
"00397436"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F4,  patient II-1"	""	"yes"	"Turkey"	""	"0"	""	""	""	"F4 (II-1)"
"00397437"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F4,  patient II-2"	""	"no"	"Turkey"	""	"0"	""	""	""	"F4 (II-2)"
"00397438"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F63,  patient II-1"	""	"no"	"Germany"	""	"0"	""	""	""	"F63 (II-1)"
"00397439"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family A197,  patient II-1"	""	"no"	"Denmark"	""	"0"	""	""	""	"A197 (II-1)"
"00397440"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F256,  patient II-1"	""	"no"	"United States"	""	"0"	""	""	""	"F256 (II-1)"
"00397441"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F256,  patient II-4"	""	"no"	"United States"	""	"0"	""	""	""	"F256 (II-4)"
"00397442"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F89,  patient II-1"	""	"no"	"Germany"	""	"0"	""	""	""	"F89 (II-1)"
"00397443"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F700,  patient III-4"	""	"yes"	"Turkey"	""	"0"	""	""	""	"F700 (III-4)"
"00397444"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F700,  patient III-6"	""	"yes"	"Turkey"	""	"0"	""	""	""	"F700 (III-6)"
"00397445"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F944,  patient III-1"	""	"yes"	"Turkey"	""	"0"	""	""	""	"F944 (III-1)"
"00397446"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F944,  patient III-2"	""	"yes"	"Turkey"	""	"0"	""	""	""	"F944 (III-2)"
"00397447"	""	""	""	"1"	""	"00000"	"{PMID:Sayer 2006:16682973}"	"Family F91,  patient II-1"	""	"no"	"Germany"	""	"0"	""	""	""	"F91 (II-1)"
"00397470"	""	""	""	"4"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	"4-generation family, family, 4 affected (3 brothers/sister)"	"M"	"yes"	"Canada"	""	"0"	""	""	"French-Canadian"	"FamPatIV6"
"00397471"	""	""	"00397470"	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	"brother"	"M"	"yes"	"Canada"	""	"0"	""	""	"French-Canadian"	"FamPatIV7"
"00397472"	""	""	"00397470"	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	"brother"	"M"	"yes"	"Canada"	""	"0"	""	""	"French Canadian"	"FamPatIV8"
"00397473"	""	""	"00397470"	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	"sister"	"F"	"yes"	"Canada"	""	"0"	""	""	"French-Canadian"	"FamPatIV9"
"00397474"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"12832"
"00397475"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germany"	""	"0"	""	""	""	"13168"
"00397476"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germany"	""	"0"	""	""	""	"14964"
"00397477"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germany"	""	"0"	""	""	""	"15103"
"00397478"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germany"	""	"0"	""	""	""	"15212"
"00397479"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"16317"
"00397480"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"17971"
"00397481"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"20152"
"00397482"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"21365"
"00397483"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"21393"
"00397484"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"21918"
"00397485"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Canada"	""	"0"	""	""	""	"27228"
"00397486"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Canada"	""	"0"	""	""	""	"27242"
"00397487"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Canada"	""	"0"	""	""	""	"27245"
"00397488"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Canada"	""	"0"	""	""	""	"27246"
"00397489"	""	""	""	"1"	""	"00000"	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Italy"	""	"0"	""	""	""	"27250"
"00397529"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"Belgium"	""	"0"	""	""	""	"389"
"00397530"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"France"	""	"0"	""	""	""	"818"
"00397531"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"Italy"	""	"0"	""	""	""	"382"
"00397532"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"Switzerland"	""	"0"	""	""	""	"13045"
"00397533"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"France"	""	"0"	""	""	""	"798"
"00397534"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"France"	""	"0"	""	""	""	"105"
"00397535"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"France"	""	"0"	""	""	""	"850"
"00397536"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"Italy"	""	"0"	""	""	""	"552"
"00397537"	""	""	""	"1"	""	"00000"	"{PMID:Perrault 2007:17345604}"	""	""	""	"France"	""	"0"	""	""	""	"258"
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"00397587"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2007:17554762}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"P8"
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"00397628"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"no"	"Brazil"	""	"0"	""	""	""	"MTI286"
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"00397630"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"COR002a"
"00397631"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"COR002b"
"00397632"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"no"	"Switzerland"	""	"0"	""	""	""	"COR083"
"00397633"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"no"	"India"	""	"0"	""	""	""	"MTI154"
"00397634"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"MTI273"
"00397635"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"yes"	"United Arab Emirates"	""	"0"	""	""	""	"MTI012"
"00397636"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"yes"	"United Arab Emirates"	""	"0"	""	""	""	"MTI587"
"00397637"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"MTI487"
"00397638"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"COR145"
"00397639"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"no"	"United States"	"3y"	"0"	""	""	""	"MTI333a"
"00397640"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"no"	"United States"	""	"0"	""	""	""	"MTI333b"
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"00397647"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"no"	"Ireland"	""	"0"	""	""	""	"MTI118"
"00397648"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"M"	"no"	"Laos"	""	"0"	""	""	""	"MTI111a"
"00397649"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"no"	"Laos"	""	"0"	""	""	""	"MTI111b"
"00397650"	""	""	""	"1"	""	"00000"	"{PMID:Brancati 2007:17564967}"	""	"F"	"yes"	"Belgium"	""	"0"	""	""	""	"COR031"
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"00397654"	""	""	""	"1"	""	"00000"	"{PMID:Helou 2008:17617513}"	""	""	"no"	"Italy"	""	"0"	""	""	""	"A372 (II-2)"
"00397655"	""	""	""	"1"	""	"00000"	"{PMID:Helou 2008:17617513}"	""	""	"no"	"Switzerland"	""	"0"	""	""	""	"A989 (II-1)"
"00397656"	""	""	""	"1"	""	"00000"	"{PMID:Helou 2008:17617513}"	""	""	"no"	"United States"	""	"0"	""	""	""	"F101 (II-2)"
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"00397658"	""	""	""	"1"	""	"00000"	"{PMID:Helou 2008:17617513}"	""	""	"no"	"Germany"	""	"0"	""	""	""	"F122 (II-2)"
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"00397660"	""	""	""	"1"	""	"00000"	"{PMID:Helou 2008:17617513}"	""	""	"no"	"Bosnia and Herzegovina"	""	"0"	""	""	""	"F938 (II-1)"
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"00397664"	""	""	""	"1"	""	"00000"	"{PMID:Aboussair 2010:20056295}"	""	"F"	"yes"	"Morocco"	""	"0"	""	""	"Arab"	"1"
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"00397690"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:24850569}"	"proband"	"M"	""	"China"	""	"0"	""	""	""	"1"
"00397841"	""	""	""	"1"	""	"00000"	"{PMID:Sonmez 2020:25818971}"	""	""	""	"Turkey"	""	"0"	""	""	""	"1"
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"00397895"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 1874, individual 5a"	""	""	""	""	"0"	""	""	""	"5a"
"00397896"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 1874, individual 5b"	""	""	""	""	"0"	""	""	""	"5b"
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"00397898"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 1874, individual 5d"	""	""	""	""	"0"	""	""	""	"5d"
"00397899"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 1874, individual 5e"	""	""	""	""	"0"	""	""	""	"5e"
"00397900"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 16827, individual 6"	""	""	""	""	"0"	""	""	""	"6"
"00397901"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 19073, individual 7"	""	""	""	""	"0"	""	""	""	"7"
"00397902"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 19328, individual 8"	""	""	""	""	"0"	""	""	""	"8"
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"00397904"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18259, individual 10"	""	""	""	""	"0"	""	""	""	"10"
"00397905"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18410, individual 11"	""	""	""	""	"0"	""	""	""	"11"
"00397906"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 16596, individual 12"	""	""	""	""	"0"	""	""	""	"12"
"00397907"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 17341, individual 13"	""	""	""	""	"0"	""	""	""	"13"
"00397908"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 19709, individual 14"	""	""	""	""	"0"	""	""	""	"14"
"00397909"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 17947, individual 15"	""	""	""	""	"0"	""	""	""	"15"
"00397910"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 19085, individual 16"	""	""	""	""	"0"	""	""	""	"16"
"00397911"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18805, individual 17"	""	""	""	""	"0"	""	""	""	"17"
"00397912"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 19043, individual 18"	""	""	""	""	"0"	""	""	""	"18"
"00397913"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18444, individual 19"	""	""	""	""	"0"	""	""	""	"19"
"00397914"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18269, individual 20"	""	""	""	""	"0"	""	""	""	"20"
"00397915"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 23097, individual 21"	""	""	""	""	"0"	""	""	""	"21"
"00397916"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 15931, individual 22a"	""	""	""	""	"0"	""	""	""	"22a"
"00397917"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 15931, individual 22b"	""	""	""	""	"0"	""	""	""	"22b"
"00397918"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 17147, individual 23"	""	""	""	""	"0"	""	""	""	"23"
"00397919"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 16858, individual 24"	""	""	""	""	"0"	""	""	""	"24"
"00397920"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 23818, individual 25"	""	""	""	""	"0"	""	""	""	"25"
"00397921"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18721, individual 26"	""	""	""	""	"0"	""	""	""	"26"
"00397922"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 13786, individual 27"	""	""	""	""	"0"	""	""	""	"27"
"00397923"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 18481, individual 28"	""	""	""	""	"0"	""	""	""	"28"
"00397924"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 19641, individual 29"	""	""	""	""	"0"	""	""	""	"29"
"00397925"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 16829, individual 30"	""	""	""	""	"0"	""	""	""	"30"
"00397926"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 24072, individual 31a"	""	""	""	""	"0"	""	""	""	"31a"
"00397927"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 24072, individual 31b"	""	""	""	""	"0"	""	""	""	"31b"
"00397928"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 24072, individual 31c"	""	""	""	""	"0"	""	""	""	"31c"
"00397929"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 24225, individual 32"	""	""	""	""	"0"	""	""	""	"32"
"00397930"	""	""	""	"1"	""	"00000"	"{PMID:Sheck 2018:29398085}"	"family 25255, individual 33"	""	""	""	""	"0"	""	""	""	"33"
"00398033"	""	""	""	"1"	""	"00000"	"{PMID:Barny 2018:29771326}"	"Patient II: 2 (family 1) P1"	"F"	""	""	""	"0"	""	""	""	"P1"
"00398034"	""	""	""	"1"	""	"00000"	"{PMID:Barny 2018:29771326}"	"Patient II: 1 (family 2) P2"	"M"	""	""	""	"0"	""	""	""	"P2"
"00398035"	""	""	""	"1"	""	"00000"	"{PMID:Barny 2018:29771326}"	""	""	""	""	""	"0"	""	""	""	"LCA10_1"
"00398036"	""	""	""	"1"	""	"00000"	"{PMID:Barny 2018:29771326}"	""	""	""	""	""	"0"	""	""	""	"LCA10_2"
"00398037"	""	""	""	"1"	""	"00000"	"{PMID:Barny 2018:29771326}"	""	""	""	""	""	"0"	""	""	""	"MKS"
"00398208"	""	""	""	"1"	""	"00000"	"{PMID:Abdelgadir 2019:31464256}"	"twin sister of 1"	"F"	""	""	""	"0"	""	""	""	"Saudi family, 1"
"00398209"	""	""	""	"1"	""	"00000"	"{PMID:Abdelgadir 2019:31464256}"	"twin sister of 2"	"F"	""	""	""	"0"	""	""	""	"Saudi family, 2"
"00398210"	""	""	""	"1"	""	"00000"	"{PMID:Abdelgadir 2019:31464256}"	"deceased younger brother of patient 1 and 2"	"M"	""	""	"9y"	"0"	""	""	""	"Saudi family, 3"
"00398213"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_01"
"00398214"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	"sibling of CEP290_03"	"F"	""	""	""	"0"	""	""	""	"CEP290_02"
"00398215"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	"sibling of CEP290_02"	"F"	""	""	""	"0"	""	""	""	"CEP290_03"
"00398216"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_04"
"00398217"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_05"
"00398218"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_06"
"00398219"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_07"
"00398220"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_08"
"00398221"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_09"
"00398222"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_10"
"00398223"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_11"
"00398224"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_12"
"00398225"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_13"
"00398226"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_14"
"00398227"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_15"
"00398228"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_16"
"00398229"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"F"	""	""	""	"0"	""	""	""	"CEP290_17"
"00398230"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_18"
"00398231"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	"sibling of CEP290_20"	"F"	""	""	""	"0"	""	""	""	"CEP290_19"
"00398232"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	"sibling of CEP290_19"	"F"	""	""	""	"0"	""	""	""	"CEP290_20"
"00398233"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_21"
"00398234"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_22"
"00398235"	""	""	""	"1"	""	"00000"	"{PMID:Feldhaus 2020:31734136}"	""	"M"	""	""	""	"0"	""	""	""	"CEP290_23"
"00398237"	""	""	""	"1"	""	"00000"	"{PMID:Hamed 2019:31970223}"	""	"M"	""	""	""	"0"	""	""	""	"1"
"00402012"	""	""	""	"1"	""	"02473"	""	""	"F"	"likely"	"Kosovo"	""	""	""	""	""	""
"00402917"	""	""	""	"1"	""	"00006"	"{PMID:Ozen 2017:28657829}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam2Pat2"
"00406408"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-21"	"?"	""	"United States"	""	"0"	""	""	""	"Ar-21-04"
"00406409"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-51"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406410"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-81"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406411"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-86"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406412"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-107"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406413"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-110"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406414"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-113"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406415"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-137"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406416"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-163"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406417"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-177"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406418"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-187"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406419"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-612"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406420"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-681"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406421"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-746"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406422"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-757"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406423"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-759"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406424"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-863"	"?"	""	"United States"	""	"0"	""	""	""	"Ar-863-03"
"00406425"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-864"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406426"	""	""	""	"1"	""	"00000"	"{PMID:Wiszniewski 2011:21153841}"	"family Ar-889"	"?"	""	"United States"	""	"0"	""	""	""	"?"
"00406444"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"4"
"00406445"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"5"
"00406446"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"6"
"00406447"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"7"
"00406448"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"8"
"00406449"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"9"
"00406450"	""	""	""	"1"	""	"00000"	"{PMID:Pasadhika 2010:19959640}"	""	"?"	""	"Canada"	""	"0"	""	""	""	"10"
"00407599"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2011:21245082}"	""	"M"	""	""	""	"0"	""	""	""	"P2"
"00407600"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2011:21245082}"	""	"F"	""	""	""	"0"	""	""	""	"P3"
"00407601"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2011:21245082}"	""	"M"	""	""	""	"0"	""	""	""	"P8"
"00407602"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2011:21245082}"	""	"F"	""	""	""	"0"	""	""	""	"P10"
"00407603"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2011:21245082}"	""	"F"	""	""	""	"0"	""	""	""	"P12"
"00407604"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2011:21245082}"	""	"M"	""	""	""	"0"	""	""	""	"P13"
"00407649"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"J-35"
"00407664"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"J-86"
"00408414"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2019:31087526}"	""	"?"	""	"Finland"	""	"0"	""	""	""	"7"
"00408799"	""	""	""	"1"	""	"00000"	"{PMID:Alazami 2012:22693042}"	""	"F"	"yes"	""	""	"0"	""	""	""	"JS_F3"
"00408808"	""	""	""	"1"	""	"00000"	"{PMID:Alazami 2012:22693042}"	""	"F"	"yes"	""	""	"0"	""	""	""	"JS_F11"
"00408809"	""	""	""	"1"	""	"00000"	"{PMID:Alazami 2012:22693042}"	""	"F"	"yes"	""	""	"0"	""	""	""	"JS_F12"
"00418680"	""	""	""	"1"	""	"00000"	"{PMID:Garcia-Tizon Larroca 2017:28396767}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00420390"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F003"
"00420402"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F018"
"00420439"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F075"
"00420454"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F106"
"00420519"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F208"
"00420557"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F263"
"00420585"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F302"
"00426927"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 31, individual 36"	"M"	""	""	""	"0"	""	""	""	"31_36"
"00426928"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 31, individual 37"	"F"	""	""	""	"0"	""	""	""	"31_37"
"00426942"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 45, individual 54"	"F"	""	""	""	"0"	""	""	""	"45_54"
"00429507"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429551"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429612"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429680"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429731"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429834"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429911"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429949"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429990"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430031"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430047"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00436606"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"no"	"Mexico"	""	""	""	"NONE"	"Hispanic"	"3446878"
"00436736"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"no"	"Mexico"	""	""	""	"NONE"	"Hispanic"	"3446878"
"00443481"	""	""	"00033208"	"1"	""	"00006"	"{PMID:Baala 2007:17564974}"	"relative"	""	""	"France;Tunisia"	""	"0"	""	""	""	"Fam4Pat303"
"00443482"	""	""	""	"2"	""	"00006"	"{PMID:Baala 2007:17564974}"	"family, 6 affected"	""	""	"Tunisia"	""	"0"	""	""	""	"Fam3Pat2607/3501"
"00443483"	""	""	""	"2"	""	"00006"	"{PMID:Baala 2007:17564974}"	"family, 2 affected"	""	""	"Morocco"	""	"0"	""	""	""	"Fam1Pat4/5"
"00443484"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM7"
"00443485"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM8"
"00443486"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM6"
"00443487"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"FIM221"
"00443521"	""	""	""	"1"	""	"00006"	"{PMID:Frank 2008:17705300}"	"8-generation family, 2 affected male fetuses, unaffected heterozygous parents/relatives"	"M"	"yes"	"Albania;Kosovo"	"<00y00m00d"	"0"	""	""	""	"Fam1"
"00443522"	""	""	""	"2"	""	"00006"	"{PMID:Frank 2008:17705300}"	"2-generation family, 2 affected fertuses (F, M), unaffected heterozygous parents"	"F;M"	""	"Kosovo"	""	"0"	""	""	""	"FamF972"
"00446926"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-18"
"00446972"	""	""	""	"3"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-363"
"00446985"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-421"
"00446998"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-453"
"00447142"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"LCA-179"
"00447143"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"LCA-181"
"00447280"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1151"
"00447529"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"CD-632"
"00447606"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1140"
"00447718"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1274"
"00449980"	""	""	""	"1"	""	"02230"	"{PMID:Zeuli 2024:38816995}, {PMID:Capasso 2025:40251809}"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	"Pat9:Pat2"
"00449981"	""	""	""	"1"	""	"02230"	"{PMID:Zeuli 2024:38816995}, {PMID:Capasso 2025:40251809}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	"Pat10;Pat3"
"00461035"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00461078"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"M"	""	"South Africa"	""	"0"	""	""	"white"	"Pat13"
"00461124"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"M"	""	"South Africa"	""	"0"	""	""	"mixed"	"Pat59"
"00462301"	""	""	""	"1"	""	"00006"	"{PMID:Boissel 2017:29261186}"	"analysis 101 stillborn fetuses with severe prenatal anoalies"	""	""	"Canada"	"0d"	"0"	""	""	""	"051-038-OZX"
"00465291"	""	""	""	"1"	""	"00006"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR37"
"00466879"	""	""	""	"1"	""	"02473"	""	""	"M"	"no"	"Brazil"	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 938
"{{individualid}}"	"{{diseaseid}}"
"00000023"	"05378"
"00028919"	"00002"
"00028923"	"00002"
"00033079"	"04210"
"00033080"	"04210"
"00033081"	"00002"
"00033082"	"04210"
"00033083"	"04210"
"00033084"	"04210"
"00033085"	"04210"
"00033086"	"00002"
"00033134"	"04214"
"00033143"	"04214"
"00033191"	"00198"
"00033192"	"00198"
"00033193"	"00198"
"00033194"	"05578"
"00033195"	"00198"
"00033196"	"00198"
"00033197"	"00198"
"00033198"	"00198"
"00033199"	"00198"
"00033200"	"00198"
"00033201"	"00198"
"00033202"	"00198"
"00033203"	"00198"
"00033204"	"00198"
"00033205"	"00198"
"00033206"	"00198"
"00033208"	"05578"
"00033209"	"00198"
"00033210"	"05578"
"00033211"	"00198"
"00033212"	"00198"
"00033213"	"00198"
"00033214"	"05578"
"00033215"	"00198"
"00033216"	"00198"
"00033217"	"00198"
"00033218"	"00198"
"00033219"	"00198"
"00033220"	"00198"
"00033221"	"00198"
"00033222"	"00198"
"00033223"	"00198"
"00033224"	"00198"
"00033225"	"00198"
"00033226"	"00198"
"00033227"	"00198"
"00033228"	"00198"
"00033229"	"00198"
"00033230"	"00198"
"00033231"	"00198"
"00033232"	"00198"
"00033233"	"00198"
"00033234"	"00198"
"00033235"	"00198"
"00033236"	"00198"
"00033237"	"00198"
"00033238"	"05578"
"00033239"	"00198"
"00033240"	"00198"
"00033241"	"00198"
"00033242"	"05578"
"00033243"	"00198"
"00033244"	"00198"
"00033245"	"05578"
"00033246"	"00198"
"00033247"	"00198"
"00033248"	"00198"
"00033249"	"00198"
"00033250"	"00198"
"00033251"	"00198"
"00033252"	"00198"
"00033254"	"05578"
"00033255"	"00198"
"00033256"	"00198"
"00033257"	"00198"
"00033258"	"00198"
"00033259"	"00198"
"00033260"	"00198"
"00033261"	"00198"
"00033262"	"00198"
"00033264"	"00198"
"00033265"	"00198"
"00033266"	"00198"
"00033267"	"00198"
"00033268"	"00198"
"00033269"	"00198"
"00033270"	"00198"
"00033271"	"00198"
"00033272"	"00198"
"00033273"	"00198"
"00033274"	"00198"
"00033275"	"00198"
"00033276"	"00198"
"00033277"	"00198"
"00033278"	"00198"
"00033279"	"00198"
"00033280"	"00198"
"00033281"	"00198"
"00033282"	"00198"
"00033283"	"00198"
"00033284"	"00198"
"00033285"	"00198"
"00033286"	"00198"
"00033287"	"00198"
"00033288"	"00198"
"00033289"	"00198"
"00033290"	"00198"
"00033291"	"00198"
"00033292"	"00198"
"00033293"	"00198"
"00033294"	"00198"
"00033295"	"00198"
"00033296"	"05578"
"00033297"	"00198"
"00033298"	"00198"
"00033299"	"00198"
"00033300"	"00198"
"00033301"	"00198"
"00033302"	"00198"
"00033303"	"00198"
"00033304"	"00198"
"00033305"	"00198"
"00033306"	"00198"
"00033307"	"05578"
"00033308"	"00198"
"00033309"	"00198"
"00033310"	"00198"
"00033311"	"00198"
"00033312"	"00198"
"00033313"	"00198"
"00033315"	"05578"
"00033316"	"00198"
"00033317"	"00198"
"00033318"	"00198"
"00033319"	"00198"
"00033320"	"00198"
"00033321"	"00198"
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"00033324"	"00198"
"00033325"	"00198"
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"00033331"	"00198"
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"00033335"	"00002"
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"00056052"	"00078"
"00080878"	"00700"
"00100094"	"00381"
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"00155410"	"04210"
"00173831"	"04214"
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"00269969"	"04214"
"00290806"	"00198"
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"00290808"	"00198"
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"00290810"	"00198"
"00290811"	"00198"
"00290812"	"00198"
"00290813"	"00198"
"00290814"	"00198"
"00290815"	"00198"
"00290816"	"00198"
"00295362"	"00198"
"00295372"	"00198"
"00295506"	"00198"
"00300598"	"04214"
"00304383"	"00198"
"00304384"	"00198"
"00308492"	"04214"
"00308493"	"04214"
"00309028"	"04214"
"00309029"	"04214"
"00309030"	"04214"
"00309031"	"04214"
"00315483"	"00700"
"00325491"	"04214"
"00327922"	"04214"
"00328027"	"04214"
"00328030"	"04214"
"00331353"	"05517"
"00331354"	"05517"
"00331355"	"05517"
"00331356"	"05517"
"00331357"	"05517"
"00331358"	"05517"
"00331735"	"04214"
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"00332275"	"04214"
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"00332348"	"04214"
"00332349"	"04214"
"00332350"	"04214"
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"00332390"	"04214"
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"00332460"	"04214"
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"00332473"	"04214"
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"00332475"	"04214"
"00333353"	"04214"
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"00333812"	"04214"
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"00333932"	"04214"
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"00362087"	"04214"
"00362934"	"04214"
"00362939"	"04214"
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"00363451"	"04214"
"00363562"	"05109"
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"00363623"	"04214"
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"00376769"	"04214"
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"00381206"	"04214"
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"00387533"	"04214"
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"00388087"	"04214"
"00388092"	"04214"
"00388099"	"04214"
"00388125"	"04214"
"00388147"	"04214"
"00388148"	"04214"
"00388149"	"04214"
"00388150"	"04214"
"00388151"	"04214"
"00388152"	"04214"
"00388181"	"04214"
"00388182"	"04214"
"00388578"	"04214"
"00388858"	"04214"
"00388859"	"04214"
"00388863"	"04214"
"00388896"	"04214"
"00388952"	"04214"
"00388953"	"04214"
"00388973"	"04214"
"00389013"	"04214"
"00389034"	"04214"
"00389041"	"04214"
"00389154"	"04214"
"00389155"	"04214"
"00389190"	"04214"
"00389597"	"04214"
"00389761"	"04214"
"00389762"	"04214"
"00389829"	"04214"
"00389867"	"04214"
"00389923"	"04214"
"00389969"	"04214"
"00390026"	"04214"
"00390027"	"04214"
"00390206"	"04214"
"00390207"	"04214"
"00390762"	"04214"
"00390769"	"04214"
"00390863"	"04214"
"00391556"	"04214"
"00391557"	"04214"
"00391602"	"04214"
"00391603"	"04214"
"00391604"	"04214"
"00391605"	"04214"
"00391606"	"04214"
"00391607"	"04214"
"00391608"	"04214"
"00391609"	"04214"
"00391610"	"04214"
"00391611"	"04214"
"00391612"	"04214"
"00391613"	"04214"
"00391614"	"04214"
"00391615"	"04214"
"00391616"	"04214"
"00391617"	"04214"
"00391618"	"04214"
"00391619"	"04214"
"00391620"	"04214"
"00391621"	"04214"
"00391622"	"04214"
"00391623"	"04214"
"00391624"	"04214"
"00391625"	"04214"
"00391626"	"04214"
"00391720"	"04214"
"00391747"	"04214"
"00391748"	"04214"
"00391749"	"04214"
"00391750"	"04214"
"00392749"	"04214"
"00393708"	"04214"
"00393811"	"04214"
"00394369"	"04214"
"00394545"	"04214"
"00394546"	"04214"
"00395771"	"04214"
"00395807"	"04214"
"00395827"	"04214"
"00395828"	"04214"
"00395829"	"04214"
"00395847"	"04214"
"00395912"	"04214"
"00396208"	"04214"
"00396209"	"04214"
"00396210"	"04214"
"00396211"	"04214"
"00396212"	"04214"
"00396218"	"04214"
"00396223"	"04214"
"00396226"	"04214"
"00396228"	"04214"
"00397427"	"04214"
"00397428"	"04214"
"00397429"	"04214"
"00397430"	"04214"
"00397431"	"04214"
"00397432"	"04214"
"00397433"	"04214"
"00397434"	"04214"
"00397436"	"04214"
"00397437"	"04214"
"00397438"	"04214"
"00397439"	"04214"
"00397440"	"04214"
"00397441"	"04214"
"00397442"	"04214"
"00397443"	"04214"
"00397444"	"04214"
"00397445"	"04214"
"00397446"	"04214"
"00397447"	"04214"
"00397470"	"04214"
"00397471"	"04214"
"00397472"	"04214"
"00397473"	"04214"
"00397474"	"04214"
"00397475"	"04214"
"00397476"	"04214"
"00397477"	"04214"
"00397478"	"04214"
"00397479"	"04214"
"00397480"	"04214"
"00397481"	"04214"
"00397482"	"04214"
"00397483"	"04214"
"00397484"	"04214"
"00397485"	"04214"
"00397486"	"04214"
"00397487"	"04214"
"00397488"	"04214"
"00397489"	"04214"
"00397529"	"04214"
"00397530"	"04214"
"00397531"	"04214"
"00397532"	"04214"
"00397533"	"04214"
"00397534"	"04214"
"00397535"	"04214"
"00397536"	"04214"
"00397537"	"04214"
"00397538"	"04214"
"00397539"	"04214"
"00397540"	"04214"
"00397541"	"04214"
"00397542"	"04214"
"00397543"	"04214"
"00397544"	"04214"
"00397545"	"04214"
"00397546"	"04214"
"00397547"	"04214"
"00397548"	"04214"
"00397549"	"04214"
"00397550"	"04214"
"00397551"	"04214"
"00397552"	"04214"
"00397553"	"04214"
"00397554"	"04214"
"00397555"	"04214"
"00397556"	"04214"
"00397557"	"04214"
"00397558"	"04214"
"00397559"	"04214"
"00397560"	"04214"
"00397561"	"04214"
"00397562"	"04214"
"00397563"	"04214"
"00397564"	"04214"
"00397565"	"04214"
"00397566"	"04214"
"00397567"	"04214"
"00397568"	"04214"
"00397580"	"04214"
"00397581"	"04214"
"00397582"	"04214"
"00397583"	"04214"
"00397584"	"04214"
"00397585"	"04214"
"00397586"	"04214"
"00397587"	"04214"
"00397626"	"04214"
"00397627"	"04214"
"00397628"	"04214"
"00397629"	"04214"
"00397630"	"04214"
"00397631"	"04214"
"00397632"	"04214"
"00397633"	"04214"
"00397634"	"04214"
"00397635"	"04214"
"00397636"	"04214"
"00397637"	"04214"
"00397638"	"04214"
"00397639"	"04214"
"00397640"	"04214"
"00397641"	"04214"
"00397642"	"04214"
"00397643"	"04214"
"00397644"	"04214"
"00397645"	"04214"
"00397646"	"04214"
"00397647"	"04214"
"00397648"	"04214"
"00397649"	"04214"
"00397650"	"04214"
"00397653"	"04214"
"00397654"	"04214"
"00397655"	"04214"
"00397656"	"04214"
"00397657"	"04214"
"00397658"	"04214"
"00397659"	"04214"
"00397660"	"04214"
"00397661"	"04214"
"00397664"	"04214"
"00397677"	"04214"
"00397678"	"04214"
"00397679"	"04214"
"00397680"	"04214"
"00397681"	"04214"
"00397682"	"04214"
"00397683"	"04214"
"00397684"	"04214"
"00397685"	"04214"
"00397686"	"04214"
"00397687"	"04214"
"00397690"	"04214"
"00397841"	"04214"
"00397891"	"04214"
"00397892"	"04214"
"00397893"	"04214"
"00397894"	"04214"
"00397895"	"04214"
"00397896"	"04214"
"00397897"	"04214"
"00397898"	"04214"
"00397899"	"04214"
"00397900"	"04214"
"00397901"	"04214"
"00397902"	"04214"
"00397903"	"04214"
"00397904"	"04214"
"00397905"	"04214"
"00397906"	"04214"
"00397907"	"04214"
"00397908"	"04214"
"00397909"	"04214"
"00397910"	"04214"
"00397911"	"04214"
"00397912"	"04214"
"00397913"	"04214"
"00397914"	"04214"
"00397915"	"04214"
"00397916"	"04214"
"00397917"	"04214"
"00397918"	"04214"
"00397919"	"04214"
"00397920"	"04214"
"00397921"	"04214"
"00397922"	"04214"
"00397923"	"04214"
"00397924"	"04214"
"00397925"	"04214"
"00397926"	"04214"
"00397927"	"04214"
"00397928"	"04214"
"00397929"	"04214"
"00397930"	"04214"
"00398033"	"04214"
"00398034"	"04214"
"00398035"	"04214"
"00398036"	"04214"
"00398037"	"04214"
"00398208"	"04214"
"00398209"	"04214"
"00398210"	"04214"
"00398213"	"04214"
"00398214"	"04214"
"00398215"	"04214"
"00398216"	"04214"
"00398217"	"04214"
"00398218"	"04214"
"00398219"	"04214"
"00398220"	"04214"
"00398221"	"04214"
"00398222"	"04214"
"00398223"	"04214"
"00398224"	"04214"
"00398225"	"04214"
"00398226"	"04214"
"00398227"	"04214"
"00398228"	"04214"
"00398229"	"04214"
"00398230"	"04214"
"00398231"	"04214"
"00398232"	"04214"
"00398233"	"04214"
"00398234"	"04214"
"00398235"	"04214"
"00398237"	"05356"
"00402012"	"00700"
"00402917"	"05992"
"00406408"	"04214"
"00406409"	"04214"
"00406410"	"04214"
"00406411"	"04214"
"00406412"	"04214"
"00406413"	"04214"
"00406414"	"04214"
"00406415"	"04214"
"00406416"	"04214"
"00406417"	"04214"
"00406418"	"04214"
"00406419"	"04214"
"00406420"	"04214"
"00406421"	"04214"
"00406422"	"04214"
"00406423"	"04214"
"00406424"	"04214"
"00406425"	"04214"
"00406426"	"04214"
"00406444"	"04214"
"00406445"	"04214"
"00406446"	"04214"
"00406447"	"04214"
"00406448"	"04214"
"00406449"	"04214"
"00406450"	"04214"
"00407599"	"04214"
"00407600"	"04214"
"00407601"	"04214"
"00407602"	"04214"
"00407603"	"04214"
"00407604"	"04214"
"00407649"	"04214"
"00407664"	"04214"
"00408414"	"04214"
"00408799"	"05109"
"00408808"	"05109"
"00408809"	"05109"
"00418680"	"04212"
"00420390"	"04214"
"00420402"	"04214"
"00420439"	"04214"
"00420454"	"04214"
"00420519"	"04214"
"00420557"	"04214"
"00420585"	"04214"
"00426927"	"04214"
"00426928"	"04214"
"00426942"	"04214"
"00429507"	"04210"
"00429551"	"04210"
"00429612"	"04210"
"00429680"	"00112"
"00429731"	"00112"
"00429834"	"00112"
"00429911"	"00112"
"00429949"	"04210"
"00429990"	"00112"
"00430031"	"00112"
"00430047"	"04210"
"00436606"	"00702"
"00436736"	"00702"
"00443481"	"05578"
"00443482"	"05578"
"00443483"	"05578"
"00443484"	"05578"
"00443485"	"05578"
"00443486"	"05578"
"00443487"	"05578"
"00443521"	"05578"
"00443522"	"05578"
"00446926"	"00198"
"00446972"	"00198"
"00446985"	"00198"
"00446998"	"00198"
"00447142"	"00198"
"00447143"	"00198"
"00447280"	"00198"
"00447529"	"00198"
"00447606"	"00198"
"00447718"	"00198"
"00449980"	"04214"
"00449981"	"04214"
"00461035"	"00198"
"00461078"	"04214"
"00461124"	"04214"
"00462301"	"00198"
"00465291"	"05109"
"00466879"	"00700"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00063, 00078, 00112, 00139, 00198, 00381, 00700, 00701, 00702, 04210, 04212, 04214, 04405, 05109, 05356, 05378, 05463, 05517, 05578, 05676, 05992
## Count = 907
"{{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}}"
"0000025015"	"00002"	"00028919"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025019"	"00002"	"00028923"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026508"	"04210"	"00033079"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026509"	"04210"	"00033080"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026510"	"00002"	"00033081"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026511"	"04210"	"00033082"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026512"	"04210"	"00033083"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026513"	"04210"	"00033084"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026514"	"04210"	"00033085"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026515"	"00002"	"00033086"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026563"	"04214"	"00033134"	"00229"	"Unknown"	"0d"	"retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026572"	"04214"	"00033143"	"00229"	"Unknown"	"43y"	"diabetes mellitus, hypertension, hearing loss"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026620"	"00198"	"00033191"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026621"	"00198"	"00033192"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026622"	"00198"	"00033193"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026624"	"00198"	"00033195"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026625"	"00198"	"00033196"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026626"	"00198"	"00033197"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026627"	"00198"	"00033198"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026628"	"00198"	"00033199"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026629"	"00198"	"00033200"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026630"	"00198"	"00033201"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026631"	"00198"	"00033202"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026632"	"00198"	"00033203"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026633"	"00198"	"00033204"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026634"	"00198"	"00033205"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026635"	"00198"	"00033206"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026638"	"00198"	"00033209"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026640"	"00198"	"00033211"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026641"	"00198"	"00033212"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026642"	"00198"	"00033213"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026644"	"00198"	"00033215"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026645"	"00198"	"00033216"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026646"	"00198"	"00033217"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026647"	"00198"	"00033218"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026648"	"00198"	"00033219"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026649"	"00198"	"00033220"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026650"	"00198"	"00033221"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026651"	"00198"	"00033222"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026652"	"00198"	"00033223"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026653"	"00198"	"00033224"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026654"	"00198"	"00033225"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026655"	"00198"	"00033226"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026656"	"00198"	"00033227"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026657"	"00198"	"00033228"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026658"	"00198"	"00033229"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026659"	"00198"	"00033230"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026660"	"00198"	"00033231"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026661"	"00198"	"00033232"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026662"	"00198"	"00033233"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026663"	"00198"	"00033234"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026664"	"00198"	"00033235"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026665"	"00198"	"00033236"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026666"	"00198"	"00033237"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026668"	"00198"	"00033239"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026669"	"00198"	"00033240"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026670"	"00198"	"00033241"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026672"	"00198"	"00033243"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026673"	"00198"	"00033244"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026675"	"00198"	"00033246"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026676"	"00198"	"00033247"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026677"	"00198"	"00033248"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026678"	"00198"	"00033249"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026679"	"00198"	"00033250"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026680"	"00198"	"00033251"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026681"	"00198"	"00033252"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026684"	"00198"	"00033255"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026685"	"00198"	"00033256"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026686"	"00198"	"00033257"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026687"	"00198"	"00033258"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026688"	"00198"	"00033259"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026689"	"00198"	"00033260"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026690"	"00198"	"00033261"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026691"	"00198"	"00033262"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026693"	"00198"	"00033264"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026694"	"00198"	"00033265"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026695"	"00198"	"00033266"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026696"	"00198"	"00033267"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026697"	"00198"	"00033268"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026698"	"00198"	"00033269"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026699"	"00198"	"00033270"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026700"	"00198"	"00033271"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026701"	"00198"	"00033272"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026702"	"00198"	"00033273"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026703"	"00198"	"00033274"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026704"	"00198"	"00033275"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026705"	"00198"	"00033276"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026706"	"00198"	"00033277"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026707"	"00198"	"00033278"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026708"	"00198"	"00033279"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026709"	"00198"	"00033280"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026710"	"00198"	"00033281"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026711"	"00198"	"00033282"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026712"	"00198"	"00033283"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026713"	"00198"	"00033284"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026714"	"00198"	"00033285"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026715"	"00198"	"00033286"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026716"	"00198"	"00033287"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026717"	"00198"	"00033288"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026718"	"00198"	"00033289"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026719"	"00198"	"00033290"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026720"	"00198"	"00033291"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026721"	"00198"	"00033292"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026722"	"00198"	"00033293"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026723"	"00198"	"00033294"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026724"	"00198"	"00033295"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026726"	"00198"	"00033297"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026727"	"00198"	"00033298"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026728"	"00198"	"00033299"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026729"	"00198"	"00033300"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026730"	"00198"	"00033301"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026731"	"00198"	"00033302"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026732"	"00198"	"00033303"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026733"	"00198"	"00033304"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026734"	"00198"	"00033305"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026735"	"00198"	"00033306"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026737"	"00198"	"00033308"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026738"	"00198"	"00033309"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026739"	"00198"	"00033310"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026740"	"00198"	"00033311"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026741"	"00198"	"00033312"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026742"	"00198"	"00033313"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026745"	"00198"	"00033316"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026746"	"00198"	"00033317"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026747"	"00198"	"00033318"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026748"	"00198"	"00033319"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026749"	"00198"	"00033320"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026750"	"00198"	"00033321"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026751"	"00198"	"00033322"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026752"	"00198"	"00033323"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026753"	"00198"	"00033324"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026754"	"00198"	"00033325"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026755"	"00198"	"00033326"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026756"	"00198"	"00033327"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026757"	"00198"	"00033328"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026758"	"00198"	"00033329"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026759"	"00198"	"00033330"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026760"	"00198"	"00033331"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026761"	"00198"	"00033332"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026762"	"00198"	"00033333"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026763"	"00198"	"00033334"	"00006"	"Unknown"	""	"patient"	""	""	""	""	""	""	""	""	""	""	""
"0000026764"	"00002"	"00033335"	"00010"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026765"	"00002"	"00033336"	"00010"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037269"	"00198"	"00050657"	"00006"	"Isolated (sporadic)"	""	"hypertelorism, cognitive impairment, u-shaped upper lip vermilion, muscular hypotonia"	""	""	""	""	""	""	""	""	""	""	""
"0000043076"	"00078"	"00056052"	"00006"	"Unknown"	""	"Meckel-Gruber syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000060447"	"00700"	"00080878"	"01758"	"Familial, autosomal recessive"	""	"Joubert syndrome 5 (OMIM:610188)"	""	""	""	""	""	""	""	""	""	""	""
"0000078333"	"00381"	"00100094"	"01769"	"Familial, autosomal recessive"	""	"early onset RD"	""	""	""	""	""	""	""	""	""	""	""
"0000082887"	"04210"	"00104996"	"01244"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127907"	"04210"	"00155407"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127908"	"04210"	"00155408"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127909"	"04210"	"00155409"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000127910"	"04210"	"00155410"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000138584"	"05463"	"00117375"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"olicone trichromacy"	""
"0000138585"	"05463"	"00117374"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"olicone trichromacy"	""
"0000138684"	"04214"	"00173831"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"RP-38"	"retinitis pigmentosa"	""
"0000155260"	"04210"	"00207484"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155263"	"04210"	"00207486"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155269"	"04210"	"00207492"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155399"	"04210"	"00207588"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155427"	"04210"	"00207619"	"01244"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000155449"	"04214"	"00207661"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000170833"	"05578"	"00033210"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-4"	"Meckel-Gruber syndrome"	""
"0000170834"	"05578"	"00033315"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-4"	"Meckel-Gruber syndrome"	""
"0000207260"	"05109"	"00269436"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207261"	"05109"	"00269437"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207263"	"05109"	"00269438"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207265"	"04210"	"00269439"	"03508"	"Familial, autosomal recessive"	"03y"	"pigmentary retinopathy, developmental delay, nephronophthisis, ptosis, molar tooth sign, BUNCr elevation"	""	""	""	""	""	""	""	""	"Arima syndrome"	""	""
"0000207266"	"04210"	"00269440"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207294"	"05109"	"00269470"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207571"	"05109"	"00269767"	"00006"	"Familial, autosomal recessive"	""	"severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 18y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality,  high-level of beta2-microgloblin and/or NAG; polycystic kidney"	""	""	""	""	""	""	""	""	""	"Arima syndrome"	""
"0000207572"	"05109"	"00269768"	"00006"	"Familial, autosomal recessive"	""	"severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 17y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality,  high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney"	""	""	""	""	""	""	""	""	""	"Arima syndrome"	""
"0000207573"	"05109"	"00269769"	"00006"	"Familial, autosomal recessive"	""	"severe psychomotor delay; cerebellar vermis agenesis or hypoplasia, encephalocele; progressive renal dysfunction at infantile; 11y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; urinary examination: hypo-osmolality,  high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney; nephronophthisis"	""	""	""	""	""	""	""	""	""	"Arima syndrome"	""
"0000207574"	"05109"	"00269770"	"00006"	"Familial, autosomal recessive"	""	"severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 7y-dialysis/7; 14y-renal transplantation; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality,  high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney; nephronophthisis"	""	""	""	""	""	""	""	""	""	"Arima syndrome"	""
"0000207576"	"05109"	"00269772"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"JBTS-5"	"Joubert syndrome"	""
"0000207578"	"05109"	"00269774"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"JBTS-5"	"Joubert syndrome"	""
"0000207579"	"05109"	"00269775"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"JBTS-5"	"Joubert syndrome"	""
"0000207765"	"04214"	"00269969"	"01848"	"Familial, autosomal recessive"	"34y"	"Pericentral RP, narrowing of visual field, constricted with ring scotoma"	"05y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000223077"	"00198"	"00295506"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510); Cone/cone-rod dystrophy (HP:0000548)"	""	""	""	""	""	""	""	""	""	""	""
"0000227909"	"04214"	"00300598"	"01848"	"Familial, autosomal recessive"	"19y"	"RP, night blindness , pericentral field loss"	"12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000233920"	"04214"	"00308492"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233921"	"04214"	"00308493"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234348"	"04214"	"00309028"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234349"	"04214"	"00309029"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234350"	"04214"	"00309030"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234351"	"04214"	"00309031"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000239234"	"00700"	"00315483"	"01164"	"Unknown"	""	"prenatal ultrasoud: Dandy-Walker malformation, hyperechogenic kidney, Molar tooth sign, heart abnormalities"	""	""	""	""	""	""	""	""	""	"prenatal"	""
"0000243978"	"04214"	"00325491"	"00006"	"Familial, autosomal recessive"	""	"syndromic retinal dystrophy"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246149"	"04214"	"00327922"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246254"	"04214"	"00328027"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000246257"	"04214"	"00328030"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000249545"	"05517"	"00331353"	"00000"	"Familial, autosomal recessive"	""	"Global developmental delay, Oculomotor apraxia, Molar tooth sign on MRI, Retinal dystroNo"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249546"	"05517"	"00331354"	"00000"	"Familial, autosomal recessive"	""	"Generalized hypotonia, Global developmental delay, Visual impairment, Nystagmus, MolaNo"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249547"	"05517"	"00331355"	"00000"	"Familial, autosomal recessive"	""	"Intrauterine growth retardation, Microcephaly, Occipital encephalocele, Anencephaly, Pul Yes"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249548"	"05517"	"00331356"	"00000"	"Familial, autosomal recessive"	""	"Retinal dystrophy, Nephronophthisis, Molar tooth sign on MRI"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249549"	"05517"	"00331357"	"00000"	"Familial, autosomal recessive"	""	"Global developmental delay, Molar tooth sign on MRI"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249550"	"05517"	"00331358"	"00000"	"Familial, autosomal recessive"	""	"Global developmental delay, Molar tooth sign on MRI"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249927"	"04214"	"00331735"	"00000"	"Familial, autosomal recessive"	""	"RD, nystagmus, psychomotor delay, cerebellar atrophy, chronic renal failure, macrocephaly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000250375"	"04214"	"00332188"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250376"	"04214"	"00332189"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250452"	"04214"	"00332265"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250460"	"04214"	"00332273"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250462"	"04214"	"00332275"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250533"	"04214"	"00332347"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250534"	"04214"	"00332348"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250535"	"04214"	"00332349"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250536"	"04214"	"00332350"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250537"	"04214"	"00332351"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250576"	"04214"	"00332390"	"00000"	"Familial, autosomal recessive"	"1y"	"Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished; hypotonia"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250577"	"04214"	"00332391"	"00000"	"Familial, autosomal recessive"	"1y7m"	"Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250644"	"04214"	"00332460"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000250648"	"04214"	"00332464"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"EORP"	""
"0000250657"	"04214"	"00332473"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000250658"	"04214"	"00332474"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000250659"	"04214"	"00332475"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000251540"	"04214"	"00333353"	"00000"	"Familial, autosomal dominant"	"27y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251547"	"04214"	"00333360"	"00000"	"Familial, autosomal dominant"	"54y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251646"	"04214"	"00333461"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251647"	"04214"	"00333462"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251657"	"04214"	"00333472"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251997"	"04214"	"00333812"	"00000"	"Familial, autosomal recessive"	"50y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251998"	"04214"	"00333813"	"00000"	"Familial, autosomal recessive"	"8y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (with CEP290 signs)"	""
"0000252080"	"04214"	"00333895"	"00000"	"Familial, autosomal recessive"	"19y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252081"	"04214"	"00333896"	"00000"	"Familial, autosomal recessive"	"34y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252117"	"04214"	"00333932"	"00000"	"Familial, autosomal recessive"	"14y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252118"	"04214"	"00333933"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252119"	"04214"	"00333934"	"00000"	"Familial, autosomal recessive"	"8y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252120"	"04214"	"00333935"	"00000"	"Familial, autosomal recessive"	"15y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252121"	"04214"	"00333936"	"00000"	"Familial, autosomal recessive"	"20y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252122"	"04214"	"00333937"	"00000"	"Familial, autosomal recessive"	"13y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252127"	"04214"	"00333942"	"00000"	"Familial, autosomal recessive"	"6y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000252128"	"04214"	"00333943"	"00000"	"Familial, autosomal recessive"	"30y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000252129"	"04214"	"00333944"	"00000"	"Familial, autosomal recessive"	"33y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000252130"	"04214"	"00333945"	"00000"	"Familial, autosomal recessive"	"41y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000252151"	"04214"	"00333966"	"00000"	"Familial, autosomal recessive"	"60y"	"clinical category IA2c"	""	""	""	""	""	""	""	""	""	"early childhood onset retinal dystrophy"	""
"0000252152"	"04214"	"00333967"	"00000"	"Familial, autosomal recessive"	"17y"	"clinical category IA2c"	""	""	""	""	""	""	""	""	""	"early childhood onset retinal dystrophy"	""
"0000252153"	"04214"	"00333968"	"00000"	"Familial, autosomal recessive"	"44y"	"clinical category IA2c"	""	""	""	""	""	""	""	""	""	"early childhood onset retinal dystrophy"	""
"0000252284"	"04214"	"00334099"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IB5"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000252811"	"00198"	"00335096"	"00000"	"Familial, autosomal recessive"	""	"0y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252812"	"00198"	"00335097"	"00000"	"Unknown"	""	"14y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252959"	"04214"	"00335244"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252976"	"04214"	"00335261"	"02485"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252977"	"04214"	"00335262"	"02485"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252978"	"04214"	"00335263"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252979"	"04214"	"00335264"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253047"	"04214"	"00335333"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253048"	"04214"	"00335334"	"02485"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253390"	"04214"	"00335444"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253423"	"04214"	"00335478"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000253424"	"04214"	"00335479"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253425"	"04214"	"00335480"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000253481"	"04214"	"00335535"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000253483"	"04214"	"00335537"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosi"	""
"0000254032"	"04212"	"00358817"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	""
"0000254103"	"05109"	"00358845"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; ataxia, neonatal dysregulated breathing; retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254105"	"05109"	"00358847"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia; retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254106"	"05109"	"00358848"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia, neonatal dysregulated breathing; retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254109"	"05109"	"00358851"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia; retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254110"	"05109"	"00358852"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, neonatal dysregulated breathing; no retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254113"	"05109"	"00358855"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; moderate developmental delay; retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254123"	"05109"	"00358865"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia, neonatal dysregulated breathing; retina problems; coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254128"	"05109"	"00358870"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; no retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254153"	"04214"	"00358893"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254154"	"04214"	"00358894"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254155"	"04214"	"00358895"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254156"	"04214"	"00358896"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254157"	"04214"	"00358897"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254248"	"04214"	"00358950"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000254263"	"04214"	"00358965"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254264"	"04214"	"00358966"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000254337"	"04214"	"00359040"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000254349"	"04214"	"00359052"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254355"	"04214"	"00359058"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254358"	"04214"	"00359061"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254360"	"04214"	"00359063"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254378"	"04214"	"00359081"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254381"	"04214"	"00359084"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254382"	"04214"	"00359085"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254383"	"04214"	"00359086"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254389"	"04214"	"00359092"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254393"	"04214"	"00359096"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000254483"	"04214"	"00359186"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254624"	"04214"	"00359328"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000254649"	"04214"	"00359378"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000257501"	"04214"	"00362087"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000258300"	"04214"	"00362934"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000258305"	"04214"	"00362939"	"00000"	"Familial, X-linked"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000258761"	"04214"	"00363396"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258812"	"04214"	"00363451"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258912"	"05109"	"00363562"	"00000"	"Familial, autosomal recessive"	"4m"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258913"	"05109"	"00363563"	"00000"	"Familial, autosomal recessive"	"4m"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258973"	"04214"	"00363623"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinal dystrophy, unspecfied"	""
"0000267391"	"04214"	"00372062"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267544"	"05109"	"00372223"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267545"	"05109"	"00372224"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267546"	"05109"	"00372225"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267547"	"05109"	"00372226"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267548"	"05109"	"00372227"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267549"	"05109"	"00372228"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267550"	"05109"	"00372229"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267551"	"05109"	"00372230"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267552"	"05109"	"00372231"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267553"	"05109"	"00372232"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267554"	"05109"	"00372233"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267555"	"05109"	"00372234"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267556"	"05109"	"00372235"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267557"	"05109"	"00372236"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267558"	"05109"	"00372237"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267559"	"05109"	"00372238"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267560"	"05109"	"00372239"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267561"	"05109"	"00372240"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267562"	"05109"	"00372241"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267563"	"05109"	"00372242"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267564"	"05109"	"00372243"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267565"	"05109"	"00372244"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267566"	"05109"	"00372245"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267567"	"05109"	"00372246"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267568"	"05109"	"00372247"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267569"	"05109"	"00372248"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267570"	"05109"	"00372249"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267571"	"05109"	"00372250"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267572"	"05109"	"00372251"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267573"	"05109"	"00372252"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267574"	"05109"	"00372253"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267575"	"05109"	"00372254"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267697"	"05109"	"00372376"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267698"	"05109"	"00372377"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267720"	"04214"	"00372405"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267735"	"04214"	"00372420"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267736"	"04214"	"00372421"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267737"	"04214"	"00372422"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267738"	"04214"	"00372423"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267739"	"04214"	"00372424"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267740"	"04214"	"00372425"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267775"	"04214"	"00372460"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267776"	"04214"	"00372461"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000268657"	"04214"	"00373381"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268664"	"04214"	"00373388"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268666"	"04214"	"00373390"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268975"	"04214"	"00373752"	"00008"	"Familial, autosomal recessive"	""	"ESRD (11y); blind; nystagmus; cerebellar ataxia; mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268976"	"04214"	"00373753"	"00008"	"Familial, autosomal recessive"	""	"ESRD (25y); blind; nystagmus; cerebellar ataxia; mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268977"	"04214"	"00373754"	"00008"	"Familial, autosomal recessive"	""	"ESRD (19y); visual impairment; cerebellar ataxia; mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268978"	"04214"	"00373755"	"00008"	"Familial, autosomal recessive"	""	"ESRD (14y); blind; cerebellar ataxia"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268979"	"04214"	"00373756"	"00008"	"Familial, autosomal recessive"	""	"Normal (8y); blind; cerebellar ataxia; mental retardation; molar tooth sign; HD, convulsions"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268980"	"04214"	"00373757"	"00008"	"Familial, autosomal recessive"	""	"ESRD (12y); blind"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268981"	"04214"	"00373758"	"00008"	"Familial, autosomal recessive"	""	"CRF (24y); blind; nystagmus; cerebellar ataxia; mental retardation; cerebellar vermis aplasia/hypoplasia"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268982"	"04214"	"00373759"	"00008"	"Familial, autosomal recessive"	""	"Normal (10y); visual impairment; nystagmus; mental retardation; Autism, ptosis"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268983"	"04214"	"00373760"	"00008"	"Familial, autosomal recessive"	""	"ESRD (17y); visual impairment"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis"	""
"0000268986"	"04214"	"00373763"	"00008"	"Familial, autosomal recessive"	""	"ESRD (13y); cogan oculomotor apraxia; mental retardation; molar tooth sign"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis/mental retardation"	""
"0000268987"	"04214"	"00373764"	"00008"	"Familial, autosomal recessive"	""	"ESRD (7y); visual impairment; nystagmus; mental retardation; Convulsions"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis/mental retardation"	""
"0000268989"	"04214"	"00373766"	"00008"	"Familial, autosomal recessive"	""	"ESRD (9y); nystagmus; mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert Syndrome / Nephronophthisis/mental retardation"	""
"0000268996"	"04214"	"00373773"	"00008"	"Familial, autosomal recessive"	""	"UCD (5y); cerebellar ataxia; molar tooth sign; Polydactyly"	""	""	""	""	""	""	""	""	""	""	""
"0000268997"	"04214"	"00373774"	"00008"	"Familial, autosomal recessive"	""	"ESRD (18y); visual impairment; cogan oculomotor apraxia; mental retardation"	""	""	""	""	""	""	""	""	""	""	""
"0000268999"	"04214"	"00373776"	"00008"	"Familial, autosomal recessive"	""	"CK/UCD (3y); visual impairment; oculomotor disorder; cerebellar ataxia; mental retardation; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000269105"	"04214"	"00373896"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000269165"	"04214"	"00373956"	"00000"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269450"	"00198"	"00374240"	"00006"	"Familial, autosomal recessive"	""	"Manifested features suggestive of Joubert syndrome. Brain MRI showed cerebellar vermis agenesis"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269451"	"00198"	"00374241"	"00006"	"Familial, autosomal recessive"	""	"Global developmental delay since early infancy with delayed speech, nystagmus, no vision since 5 months of age, marked hypotonia and pigmentary dystrophy; ultrasound suggestive of renal disease"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269452"	"00198"	"00374242"	"00006"	"Familial, autosomal recessive"	""	"Developmental delay, hypotonia and seizure disorders. MRI suggestive of Jouberts syndrome"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269453"	"00198"	"00374243"	"00006"	"Familial, autosomal recessive"	""	"Developmental delay, dysmorphism, exotropia, polycystic kidneys, third nerve palsy and hypertelorism."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269454"	"00198"	"00374244"	"00006"	"Familial, autosomal recessive"	""	"Features indicative of Joubert syndrome."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269895"	"00198"	"00374685"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269896"	"00198"	"00374686"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel-Gruber syndrome"	""
"0000269897"	"00198"	"00374687"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000270166"	"04214"	"00374956"	"00000"	"Isolated (sporadic)"	"2y"	""	"1y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000270644"	"04214"	"00375430"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271495"	"04214"	"00376287"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Lebel congenital amaurosis/Rod-cone dystrophy ( LCA/RCD)"	""
"0000271955"	"04214"	"00376744"	"00000"	"Familial, autosomal recessive"	"1y"	""	""	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""
"0000271956"	"04214"	"00376745"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, muscle weakness"	""
"0000271960"	"04214"	"00376749"	"00000"	"Familial, autosomal recessive"	"25y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271961"	"04214"	"00376750"	"00000"	"Familial, autosomal recessive"	"26y"	""	""	""	""	""	""	""	""	""	""	"Decreased vision, field loss, night vision blindness"	""
"0000271964"	"04214"	"00376753"	"00000"	"Familial, autosomal recessive"	"48y"	""	""	""	""	""	""	""	""	""	""	"Decreased peripheral vision, photophobia, difficult light-to-dark adaptation, night blindness"	""
"0000271967"	"04214"	"00376756"	"00000"	"Familial, autosomal recessive"	"31y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271971"	"04214"	"00376760"	"00000"	"Familial, autosomal recessive"	"45y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271972"	"04214"	"00376761"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271979"	"04214"	"00376768"	"00000"	"Familial, autosomal recessive"	"37y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271980"	"04214"	"00376769"	"00000"	"Familial, autosomal recessive"	"8y"	""	""	""	""	""	""	""	""	""	""	"Progressive pigmentary retinopathy"	""
"0000271982"	"04214"	"00376771"	"00000"	"Familial, autosomal dominant"	"64y"	""	""	""	""	""	""	""	""	""	""	"Progressive pigmentary retinopathy"	""
"0000271985"	"04214"	"00376774"	"00000"	"Familial, autosomal dominant"	"7y"	""	""	""	""	""	""	""	""	""	""	"Rod dystrophy"	""
"0000272001"	"04214"	"00376790"	"00000"	"Unknown"	"12y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272006"	"04214"	"00376795"	"00000"	"Unknown"	"41y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272007"	"04214"	"00376796"	"00000"	"Unknown"	"67y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272323"	"04214"	"00377165"	"00000"	"Familial, autosomal recessive"	"32y"	"see paper"	"3y"	"7y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272358"	"04214"	"00377200"	"00000"	"Familial, autosomal recessive"	"16y"	"see paper"	"2y"	"7y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272363"	"04214"	"00377205"	"00000"	"Familial, autosomal recessive"	"1y"	"see paper"	"7m"	"2y"	""	""	""	""	""	""	"Leber congenital amaurosis, type 10 (LCA-10)"	"retinal disease"	""
"0000272371"	"04214"	"00377213"	"00000"	"Familial, autosomal recessive"	"1y"	"see paper"	"3m"	"1y"	""	""	""	""	""	""	"Leber congenital amaurosis, type 10 (LCA-10)"	"retinal disease"	""
"0000272375"	"04214"	"00377217"	"00000"	"Isolated (sporadic)"	"11y"	"see paper"	"2y"	"6y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272669"	"04214"	"00377519"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272674"	"04214"	"00377524"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272695"	"04214"	"00377545"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272799"	"04214"	"00377647"	"00000"	"Familial, autosomal recessive"	""	", kidney disease, oculomotor apraxia, nystagmus, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272800"	"04214"	"00377648"	"00000"	"Familial, autosomal recessive"	""	"liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, vessel attenuation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272801"	"04214"	"00377649"	"00000"	"Familial, autosomal recessive"	""	"kidney disease, oculomotor apraxia, nystagmus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272802"	"04214"	"00377650"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272803"	"04214"	"00377651"	"00000"	"Familial, autosomal recessive"	""	"kidney disease, oculomotor apraxia, nystagmus, strabismus, retinal degeneration, vessel attenuation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272804"	"04214"	"00377652"	"00000"	"Familial, autosomal recessive"	""	"kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, retinal degeneration, vessel attenuation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272805"	"04214"	"00377653"	"00000"	"Familial, autosomal recessive"	""	"kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, optic nerve, retinal degeneration, vessel attenuation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272897"	"04214"	"00377751"	"00000"	"Familial"	""	"Lebel congenital amaurosis, nystagmus, mental retardation"	""	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""
"0000272898"	"04214"	"00377752"	"00000"	"Familial"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""
"0000272899"	"04214"	"00377753"	"00000"	"Familial"	""	"retinal dystrophy,nystagmus, ataxia, mental retardation,cerebellar vermis aplasia."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272900"	"04214"	"00377754"	"00000"	"Familial"	""	"cerebellar vermis aplasia, mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272901"	"04214"	"00377755"	"00000"	"Familial"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272902"	"04214"	"00377756"	"00000"	"Familial"	""	"deafness, nystagmus,cerebellar vermis aplasia,mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272903"	"04214"	"00377757"	"00000"	"Familial"	""	"Leber congenital amaurosis,cerebellar vermis hypoplasia"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272904"	"04214"	"00377758"	"00000"	"Familial"	""	"craniofacial abnormalities,retinal dystrophy,mental retardation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272905"	"04214"	"00377759"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Meckel-Gruber syndrome, multicystic dysplastic kidneys"	""
"0000272928"	"04214"	"00377782"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Nephronophthisis"	""
"0000273032"	"04214"	"00377886"	"00000"	"Unknown"	"5m"	""	"5m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273044"	"04214"	"00377898"	"00000"	"Isolated (sporadic)"	"1y4m"	""	"<1y"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273054"	"04214"	"00377908"	"00000"	"Familial, autosomal recessive"	"7y"	"nystagmus, poor vision"	"11m"	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000273064"	"04214"	"00377918"	"00000"	"Unknown"	""	"mental retardation, microcephaly"	""	""	""	""	""	""	""	""	""	"juvenile end-stage renal disease (ESRD)"	""
"0000273163"	"04210"	"00378016"	"03508"	"Familial, autosomal recessive"	""	"HP:0001123\tHP:0000639\tHP:0001483\tHP:0000007, HP:0001251, HP:0001263, HP:0002419, HP:0000508, HP:0001290"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273166"	"04210"	"00378020"	"03508"	"Familial, autosomal recessive"	""	"HP:0001123\tHP:0000639\tHP:0001483\tHP:0000007\tHP:0001251, HP:0001263, HP:0002419, HP:0000508,\tHP:0001290"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273439"	"04214"	"00379585"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JS)"	""
"0000273447"	"04214"	"00379593"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JS)"	""
"0000273448"	"04214"	"00379594"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JS)"	""
"0000273480"	"04210"	"00379636"	"03508"	"Familial, autosomal recessive"	""	"HP:0000090\tHP:0001249\tHP:0001263,\tHP:0000007,\tHP:0001483,\tHP:0000639,\tHP:0002419"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273501"	"04210"	"00379657"	"03508"	"Familial, autosomal recessive"	""	"HP:0000613,\tHP:0000007,\tHP:0001141,\tHP:0000639,\tHP:0001263,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273559"	"04214"	"00379714"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"high myopia"	""
"0000273610"	"04210"	"00379756"	"03508"	"Familial, autosomal recessive"	""	"HP:0032122,\tHP:0000613,\tHP:0001123,\tHP:0000639,\tHP:0001483,\tHP:0000551"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274876"	"04214"	"00381025"	"00000"	"Isolated (sporadic)"	"<1y"	"poor vision, roving nystagmus"	"1y2m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274877"	"04214"	"00381026"	"00000"	"Isolated (sporadic)"	"<1y"	"poor vision, nystagmus"	"6y10m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274878"	"04214"	"00381027"	"00000"	"Isolated (sporadic)"	"<1y"	"poor vision, nystagmus"	"1y11m"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274890"	"04214"	"00381039"	"00000"	"Di-genic"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274891"	"04214"	"00381040"	"00000"	"Di-genic"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000274896"	"04214"	"00381045"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275034"	"04214"	"00381183"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275035"	"04214"	"00381184"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275036"	"04214"	"00381185"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275037"	"04214"	"00381186"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275052"	"04214"	"00381201"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275053"	"04214"	"00381202"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275054"	"04214"	"00381203"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275055"	"04214"	"00381204"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275056"	"04214"	"00381205"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275057"	"04214"	"00381206"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275058"	"04214"	"00381207"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275438"	"04214"	"00381596"	"00000"	"Familial, autosomal recessive"	""	""	"2y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275481"	"04214"	"00381639"	"00000"	"Familial, autosomal recessive"	""	""	"9y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275490"	"04214"	"00381648"	"00000"	"Familial, autosomal recessive"	""	""	"5y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275531"	"04214"	"00381689"	"00000"	"Familial, autosomal recessive"	""	""	"10y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA), early cone-rod dystrophy (CRD)"	""
"0000275535"	"04214"	"00381693"	"00000"	"Familial, autosomal recessive"	""	""	"11y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA), early cone-rod dystrophy (CRD)"	""
"0000275728"	"04214"	"00381886"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000275776"	"04214"	"00381934"	"00000"	"Familial, autosomal recessive"	"8y"	"nystagmus; cataract"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000276096"	"04214"	"00382247"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276097"	"04214"	"00382248"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276362"	"04214"	"00382513"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276363"	"04214"	"00382514"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276364"	"04214"	"00382515"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276365"	"04214"	"00382516"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy"	""
"0000276501"	"04214"	"00382652"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276506"	"04214"	"00382657"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276507"	"04214"	"00382658"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276700"	"04214"	"00382844"	"00000"	"Familial, autosomal recessive"	"8m"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000276994"	"04214"	"00383207"	"00000"	"Familial, autosomal recessive"	"11y"	"retinitis pigmentosa, obesity, mental retardation, renal disease, developmental delayNs"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277446"	"04214"	"00383661"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndro"	""
"0000277577"	"04214"	"00383792"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277884"	"04214"	"00384099"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277892"	"04214"	"00384107"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Goldmann Favre syndrome"	""
"0000278003"	"04214"	"00384218"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000278070"	"04214"	"00384285"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000278134"	"04214"	"00384349"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000278189"	"04214"	"00384404"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000278586"	"04214"	"00384803"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278595"	"04214"	"00384812"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, renal disease, polydactyly, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278602"	"04214"	"00384819"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278773"	"04214"	"00384989"	"00000"	"Isolated (sporadic)"	"6y"	"no nyctalopia/photophobia, nystagmus, ERG severely declined, best corrected visual acuity right/left eye: NA"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278822"	"04214"	"00385038"	"00000"	"Isolated (sporadic)"	"14y"	"nyctalopia, no nystagmus, no oculodigital sign, best corrected visual acuity right/left eye: 0.3/0.3"	"5y"	""	""	""	""	""	""	""	"early onset severe retinal dystrophy"	"early onset severe retinal dystrophy"	""
"0000278828"	"04214"	"00385044"	"00000"	"Isolated (sporadic)"	"13y"	"nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.3/0.3"	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278842"	"04214"	"00385058"	"00000"	"Familial, autosomal recessive"	"8y"	"nyctalopia/photophobia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: FC/FC"	"8m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278849"	"04214"	"00385065"	"00000"	"Isolated (sporadic)"	"1y"	"no nyctalopia/photophobia, no nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA"	"6m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278850"	"04214"	"00385066"	"00000"	"Familial, autosomal recessive"	"2y6m"	"no nyctalopia/photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: LP/LP"	"6m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278852"	"04214"	"00385068"	"00000"	"Isolated (sporadic)"	"6m"	"no nyctalopia/photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA"	"1m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278853"	"04214"	"00385069"	"00000"	"Isolated (sporadic)"	"1y"	"photophobia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA"	"1m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000278953"	"04214"	"00385157"	"00000"	"Familial, autosomal recessive"	"7m"	"HP:0010442 Polydactyly; HP:0000556 Retinal dystrophy; HP:0001263 Global developmental delay;; HP:0001318 Muscular hypotonia  ; HP:0002783 Recurrent lower respiratory tract infections; NOTE MRI head confirms Joubert suspicion"	""	""	""	""	""	""	""	""	"Joubert syndrome"	"Joubert syndrome"	""
"0000278954"	"04214"	"00385158"	"00000"	"Familial, autosomal recessive"	"53y11m"	"Referred as SLS; HP:0000083 Renal insufficiency; HP:0007754 Macular dystrophy;                ; HP:0007703 Abnormality of retinal pigmentation"	""	""	""	""	""	""	""	""	""	"Senior Loken syndrome"	""
"0000278956"	"04214"	"00385160"	"00000"	"Familial, autosomal recessive"	"28y1m"	"Referred as unknown diagnosis but fulfils diagnostic criteria for SLS; HP:0000083 Renal insufficiency; HP:0001146 Pigmentary retinal degeneration;  HP:0007875 Congenital blindness; HP:0000547 Tapetoretinal degeneration; HP:0006934 Congenital nystagmus"	""	""	""	""	""	""	""	""	""	"Senior Loken syndrome"	""
"0000279029"	"04214"	"00385233"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279982"	"04214"	"00386179"	"00000"	"Familial, autosomal recessive"	"49y"	""	""	"39y"	""	""	""	""	""	""	"Stargardt Disease"	""	""
"0000280004"	"04214"	"00386201"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000280015"	"04214"	"00386212"	"00000"	"Familial, autosomal recessive"	"53y"	""	""	"6y"	""	""	""	""	""	""	"achromatopsia"	""	""
"0000280039"	"04214"	"00386236"	"00000"	"Familial, autosomal recessive"	"38y"	""	""	"<1y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000280103"	"04214"	"00386300"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280363"	"04214"	"00386563"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280372"	"04214"	"00386572"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280380"	"04214"	"00386580"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280593"	"04214"	"00386793"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280669"	"04214"	"00386869"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280974"	"05109"	"00387411"	"00000"	"Familial, autosomal recessive"	""	"Retinal type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280975"	"05109"	"00387412"	"00000"	"Familial, autosomal recessive"	""	"Retinal type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280976"	"05109"	"00387413"	"00000"	"Familial, autosomal recessive"	""	"Retinal type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280977"	"05109"	"00387414"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280978"	"05109"	"00387415"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280979"	"05109"	"00387416"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280980"	"05109"	"00387417"	"00000"	"Familial, autosomal recessive"	""	"Renal type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280981"	"05109"	"00387418"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280982"	"05109"	"00387419"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280983"	"05109"	"00387420"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280984"	"05109"	"00387421"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280985"	"05109"	"00387422"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280986"	"05109"	"00387423"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000280987"	"05578"	"00387424"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel-Gruber syndrome"	""
"0000281096"	"04214"	"00387533"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""
"0000281098"	"04214"	"00387535"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""
"0000281099"	"04214"	"00387536"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""
"0000281100"	"04214"	"00387537"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""
"0000281166"	"04214"	"00387603"	"00000"	"Familial"	""	""	"5y"	""	""	""	""	""	""	""	""	"Meckel-Gruber and Joubert syndrome"	""
"0000281660"	"04214"	"00388066"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281673"	"04214"	"00388079"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281681"	"04214"	"00388087"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281686"	"04214"	"00388092"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281693"	"04214"	"00388099"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281719"	"04214"	"00388125"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281740"	"04214"	"00388147"	"00000"	"Unknown"	"6m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Pigmentary retinopathy, ERG: Extinguished, additional features: Developmental delay, Molar tooth sign"	""	""	""	""	""	""	""	""	"Joubert syndrome"	"Joubert syndrome"	""
"0000281741"	"04214"	"00388148"	"00000"	"Unknown"	"11y5m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Depigmented fundi, ERG: Extinguished, additional features: Developmental delay, Molar tooth sign, Periodic apnea"	""	""	""	""	""	""	""	""	"Joubert syndrome"	"Joubert syndrome"	""
"0000281742"	"04214"	"00388149"	"00000"	"Unknown"	"4m"	"Nystagmus: Wandering eye movement, no eye contact, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Peripheral retinal degeneration, ERG: Extinguished, additional features: Vermian dysplasia, Molar tooth sign"	""	""	""	""	""	""	""	""	"Joubert syndrome"	"Joubert syndrome"	""
"0000281743"	"04214"	"00388150"	"00000"	"Unknown"	"3y1m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Pigmentary retinopathy, ERG: Extinguished, additional features: Developmental delay"	""	""	""	""	""	""	""	""	"Arima syndrome"	"Arima syndrome"	""
"0000281744"	"04214"	"00388151"	"00000"	"Unknown"	"11m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: CSM/CSM, fundus: Normal, ERG: Extinguished, additional features: MRI: NA"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281745"	"04214"	"00388152"	"00000"	"Unknown"	"5m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Temporal MP bundle defect, Granular macular dystrophy, ERG: Extinguished, additional features: Transposition of the great arteries, Increased bilirubin, Increased kidney echo, Molar tooth sign"	""	""	""	""	""	""	""	""	"Joubert syndrome"	"Joubert syndrome"	""
"0000281774"	"04214"	"00388181"	"00000"	"Unknown"	"1y4m"	"Nystagmus: 2Hz pendular bilateral symmetric, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Normal, ERG: Extinguished, additional features: hypotonia"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281775"	"04214"	"00388182"	"00000"	"Unknown"	"8m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Marbled fundus, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000282118"	"04214"	"00388578"	"00000"	"Familial, autosomal recessive"	""	"Non‐syndrom"	""	"3m"	""	""	""	""	""	""	"Leber congenital amaurosis type 10"	"Nystagmus and visual deficit"	""
"0000282399"	"04214"	"00388858"	"00000"	"Familial, autosomal recessive"	"30y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282400"	"04214"	"00388859"	"00000"	"Familial, autosomal recessive"	"26y"	"age at genetic diagnosis mentioned"	""	"25y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282404"	"04214"	"00388863"	"00000"	"Familial, autosomal recessive"	"45y"	"age at genetic diagnosis mentioned"	""	"43y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282437"	"04214"	"00388896"	"00000"	"Familial, autosomal recessive"	"48y"	"age at genetic diagnosis mentioned"	""	"40y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282493"	"04214"	"00388952"	"00000"	"Familial, autosomal recessive"	"31y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282494"	"04214"	"00388953"	"00000"	"Familial, autosomal recessive"	"32y"	"age at genetic diagnosis mentioned"	""	"25y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282514"	"04214"	"00388973"	"00000"	"Isolated (sporadic)"	"34y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000282554"	"04214"	"00389013"	"00000"	"Familial, autosomal recessive"	"8y"	"age at genetic diagnosis mentioned"	""	"2y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282575"	"04214"	"00389034"	"00000"	"Familial, autosomal recessive"	"37y"	"age at genetic diagnosis mentioned"	""	"32y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282582"	"04214"	"00389041"	"00000"	"Familial, autosomal recessive"	"37y"	"age at genetic diagnosis mentioned"	""	"32y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282695"	"04214"	"00389154"	"00000"	"Familial, autosomal recessive"	"15y"	"age at genetic diagnosis mentioned"	""	"14y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282696"	"04214"	"00389155"	"00000"	"Familial, autosomal recessive"	"1y"	"age at genetic diagnosis mentioned"	""	"0y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282731"	"04214"	"00389190"	"00000"	"Familial, autosomal recessive"	"2y"	"age at genetic diagnosis mentioned"	""	"0y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000283138"	"04214"	"00389597"	"00000"	"Familial, autosomal recessive"	"22y"	"age at genetic diagnosis mentioned"	""	"21y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283302"	"04214"	"00389761"	"00000"	"Isolated (sporadic)"	"43y"	"age at genetic diagnosis mentioned"	""	"40y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283303"	"04214"	"00389762"	"00000"	"Familial, autosomal recessive"	"73y"	"age at genetic diagnosis mentioned"	""	"67y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283370"	"04214"	"00389829"	"00000"	"Isolated (sporadic)"	"32y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283408"	"04214"	"00389867"	"00000"	"Isolated (sporadic)"	"36y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283464"	"04214"	"00389923"	"00000"	"Isolated (sporadic)"	"36y"	"age at genetic diagnosis mentioned"	""	"35y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283510"	"04214"	"00389969"	"00000"	"Isolated (sporadic)"	"55y"	"age at genetic diagnosis mentioned"	""	"53y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283566"	"04214"	"00390026"	"00000"	"Unknown"	"11m"	"optic disk hypoplasia, surrounded by a depigmented halo, macular hyperpigmentation, hypopigmented peripheral retina with dark pigmented spots, highly altered fundus"	""	""	""	""	""	""	""	""	"Retinal dystrophy"	""	""
"0000283567"	"04214"	"00390027"	"00000"	"Unknown"	"7m"	"Optic disk with grayish halo, macular dystrophy, with parafoveal thinning halo, highly altered fundus"	""	""	""	""	""	""	""	""	"Retinal dystrophy"	""	""
"0000283744"	"04214"	"00390206"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283745"	"04214"	"00390207"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284250"	"04214"	"00390762"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000284257"	"04214"	"00390769"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000284351"	"04214"	"00390863"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000284892"	"04214"	"00391556"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000284893"	"04214"	"00391557"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	""
"0000284927"	"04214"	"00391602"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284928"	"04214"	"00391603"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284929"	"04214"	"00391604"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284930"	"04214"	"00391605"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284931"	"04214"	"00391606"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284932"	"04214"	"00391607"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/400;20/400"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284933"	"04214"	"00391608"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: counting fingers"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284934"	"04214"	"00391609"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"2m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284935"	"04214"	"00391610"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284936"	"04214"	"00391611"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"3m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284937"	"04214"	"00391612"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/30;20/30"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284938"	"04214"	"00391613"	"00000"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284939"	"04214"	"00391614"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"3m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284940"	"04214"	"00391615"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement"	"6m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284941"	"04214"	"00391616"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/400;2O/60"	"1y"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284942"	"04214"	"00391617"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"<1y"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284943"	"04214"	"00391618"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284944"	"04214"	"00391619"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284945"	"04214"	"00391620"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284946"	"04214"	"00391621"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"2m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284947"	"04214"	"00391622"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement"	"2m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284948"	"04214"	"00391623"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284949"	"04214"	"00391624"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"4m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284950"	"04214"	"00391625"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement"	"4m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284951"	"04214"	"00391626"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000285045"	"04214"	"00391720"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/30;20/25"	"4y"	""	""	""	""	""	""	""	"early-onset retinal dystrophy"	""	""
"0000285072"	"04214"	"00391747"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"2m"	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000285073"	"04214"	"00391748"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000285074"	"04214"	"00391749"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"2m"	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000285075"	"04214"	"00391750"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"2m"	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000285996"	"04214"	"00392749"	"00000"	"Familial, autosomal recessive"	"24y"	"polydactyly in both hands and feet, night blindness and loss of peripheral vision in childhood, severe nystagmus, obesity and kidney failure;end-stage renal disease and kidney transplantation at 12 years old; late sexual maturity at 17 years old; normal anterior segment findings, progressive peripheral visual loss, dull foveal reflex with pigmentary changes in the macula region, pale optic disc in the proband’s right eye; left eye bone spicule hyperpigmentation,  OCT: chorocapillaris layer’s attenuation; electroretinography at 24 years old: reduced and delayed scotopic respo"	"0m"	""	"polydactyly"	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000286914"	"04214"	"00393708"	"00000"	"Isolated (sporadic)"	"34y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000287017"	"04214"	"00393811"	"00000"	"Isolated (sporadic)"	"5y"	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000287573"	"04214"	"00394369"	"00000"	"Familial, autosomal recessive"	""	"Congenital blindness. Senior-Loken syndrome, N/A"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000287748"	"04214"	"00394545"	"00000"	"Familial, autosomal recessive"	"36y"	""	"10y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287749"	"04214"	"00394546"	"00000"	"Familial, autosomal recessive"	"44y"	""	"3y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000288933"	"04214"	"00395771"	"00000"	"Unknown"	"1y7m"	""	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000288969"	"04214"	"00395807"	"00000"	"Unknown"	"23y7m"	""	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000288989"	"04214"	"00395827"	"00000"	"Unknown"	"24y5m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000288990"	"04214"	"00395828"	"00000"	"Unknown"	"41y5m"	""	"19y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000288991"	"04214"	"00395829"	"00000"	"Unknown"	"56y10m"	""	"52y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289009"	"04214"	"00395847"	"00000"	"Unknown"	"68y"	""	"60y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289074"	"04214"	"00395912"	"00000"	"Unknown"	"61y6m"	""	"55y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289370"	"04214"	"00396208"	"00000"	"Familial, autosomal recessive"	"38y"	"1 year: nystagmus"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289371"	"04214"	"00396209"	"00000"	"Familial, autosomal recessive"	"3y"	"1 month: nystagmus the oculo-digital sign"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289372"	"04214"	"00396210"	"00000"	"Familial, autosomal recessive"	"8y"	"2 months: nystagmus,the oculo-digital sign, no fixation, no pacing"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289373"	"04214"	"00396211"	"00000"	"Familial, autosomal recessive"	"31y"	"6 months: nystagmus, no fixation, no pacing"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289374"	"04214"	"00396212"	"00000"	"Familial, autosomal recessive"	"18y"	"3 month: nystagmus, no fixation, no pacing"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289380"	"04214"	"00396218"	"00000"	"Familial, autosomal recessive"	"8y"	"1.5 months: nystagmus, absent pupillary responses, no fixation, no pacing"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289385"	"04214"	"00396223"	"00000"	"Familial, autosomal recessive"	"15y"	"1 month: nystagmus, sluggish pupillary responses,"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289388"	"04214"	"00396226"	"00000"	"Familial, autosomal recessive"	"15y"	"3 months: nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289390"	"04214"	"00396228"	"00000"	"Familial, autosomal recessive"	"1y6m"	"1 month: no fixation, no pacing, no eye contact, 2 months: nystagmus, 5 months: oculo-digital sign, sluggish pupillary responses"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000290561"	"04214"	"00397427"	"00000"	"Familial, autosomal recessive"	"15y"	"hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, breathing abnormalities, nystagmus, congenital blindness, molar tooth sign on brain MRI, kidney ultrasound normal, aggressive behaviour"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290562"	"04214"	"00397428"	"00000"	"Familial, autosomal recessive"	"3y"	"hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, nystagmus, congenital blindness, molar tooth sign on brain MRI, kidney ultrasound normal"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290563"	"04214"	"00397429"	"00000"	"Familial, autosomal recessive"	"10y"	"hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, nystagmus, ptosiscongenital blindness, microphtalmia left eye, molar tooth sign on brain MRI, kidney ultrasound normal"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290564"	"04214"	"00397430"	"00000"	"Familial, autosomal recessive"	"17y"	"hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, breathing abnormalities, no nystagmus, retinitis pigmentosa, visus reduction, molar tooth sign on brain MRI, kidney ultrasound normal, nephronophthisis / urine concentration defect"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290565"	"04214"	"00397431"	"00000"	"Familial, autosomal recessive"	"15y"	"hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, no nystagmus, retinitis pigmentosa, visus reduction, drusen in left eye, molar tooth sign on brain MRI, cortical cystsnephronophthisis / urine concentration defect"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290566"	"04214"	"00397432"	"00000"	"Familial, autosomal recessive"	""	"hypotonia/ataxia, psychomotor delay, oculomotor apraxia, breathing abnormalities, no nystagmus, molar tooth sign on brain MRI, cortical cysts"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290567"	"04214"	"00397433"	"00000"	"Familial, autosomal recessive"	""	"hypotonia/ataxia, psychomotor delay, oculomotor apraxia, breathing abnormalities, no nystagmus, molar tooth sign on brain MRI, kidney ultrasound normal, cleft palate"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290568"	"04214"	"00397434"	"00000"	"Familial, autosomal recessive"	"3y"	"hypotonia/ataxia, psychomotor delay, intellectual disability, ?breathing abnormalities, nystagmus, retinitis pigmentosa, visus reduction, molar tooth sign on brain MRI, cortical cysts"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290570"	"04214"	"00397436"	"00000"	"Familial, autosomal recessive"	"11y"	"tapetoretinal degeneration (reduced vision <3)"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290571"	"04214"	"00397437"	"00000"	"Familial, autosomal recessive"	"13y"	"tapetoretinal degeneration (reduced vision <2)"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290572"	"04214"	"00397438"	"00000"	"Familial, autosomal recessive"	"12y"	"congenital amaurosis , nystagmus, early-onset tapetoretinal degeneration,"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290573"	"04214"	"00397439"	"00000"	"Familial, autosomal recessive"	"9y"	"congenital amaurosis , retinal coloboma, early-onset tapetoretinal degeneration, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation"	""	""	"normal kidney at age 9"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290574"	"04214"	"00397440"	"00000"	"Familial, autosomal recessive"	"<18y"	"congenital amaurosis , nystagmus, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290575"	"04214"	"00397441"	"00000"	"Familial, autosomal recessive"	"5y"	"congenital amaurosis , nystagmus, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290576"	"04214"	"00397442"	"00000"	"Familial, autosomal recessive"	"11y"	"congenital amaurosis , nystagmus, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290577"	"04214"	"00397443"	"00000"	"Familial, autosomal recessive"	"11y"	"tapetoretinal degeneration <11 yrs,, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290578"	"04214"	"00397444"	"00000"	"Familial, autosomal recessive"	">2m"	"congenital amaurosis , nystagmus, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation, occipital menigoencephalocele"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290579"	"04214"	"00397445"	"00000"	"Familial, autosomal recessive"	">13y"	"cerebellar vermis aplasia/hypoplasia, ataxia"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290580"	"04214"	"00397446"	"00000"	"Familial, autosomal recessive"	">11y"	"cerebellar vermis aplasia/hypoplasia, ataxia"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290581"	"04214"	"00397447"	"00000"	"Familial, autosomal recessive"	"10y"	"congenital amaurosis , nystagmus, retinal coloboma, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation"	""	""	"age of end-stage renal disease or significant redution in kidney function"	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290603"	"04214"	"00397470"	"00000"	"Familial, autosomal recessive"	""	"light-perception vision; seizures; no molar-tooth sign, no cerebellar atrophy, and no structural signs of Joubert syndrome"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290604"	"04214"	"00397471"	"00000"	"Familial, autosomal recessive"	"43y"	"light-perception vision, with the oculodigital sign and enophthalmos, mild microphthalmia, a hyperopic refraction, marked keratoconus, dense white cataracts, ectopia lentis, and a pigmentary retinal degeneration with nummular pigmentations; seizures; no molar-tooth sign, no cerebellar atrophy, and no structural signs of Joubert syndrome"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290605"	"04214"	"00397472"	"00000"	"Familial, autosomal recessive"	""	"visual acuity: 20/150, myopic astigmatic refraction; no molar-tooth sign, no cerebellar atrophy, and no structural signs of Joubert syndrome"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290606"	"04214"	"00397473"	"00000"	"Familial, autosomal recessive"	""	"visual acuity: 20/80, tunnel vision: 30deg; no molar-tooth sign, no cerebellar atrophy, and no structural signs of Joubert syndrome"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290607"	"04214"	"00397474"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290608"	"04214"	"00397475"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290609"	"04214"	"00397476"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290610"	"04214"	"00397477"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290611"	"04214"	"00397478"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290612"	"04214"	"00397479"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290613"	"04214"	"00397480"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290614"	"04214"	"00397481"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290615"	"04214"	"00397482"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290616"	"04214"	"00397483"	"00000"	"Familial, autosomal recessive"	""	"abnormal proprioception but was otherwise healthy"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290617"	"04214"	"00397484"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290618"	"04214"	"00397485"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290619"	"04214"	"00397486"	"00000"	"Familial, autosomal recessive"	""	"eye examination at age 7 m:no visual behavior, no fixation and no following of a target, oculodigital sign, nystagmus, and high hyperopia; retinal appearance was essentially normal, with mild vascular attenuation; electroretinography signals undetectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290620"	"04214"	"00397487"	"00000"	"Familial, autosomal recessive"	""	"10 m: head circumference was found to be large by a pediatrician, and he underwent magnetic resonance imaging and ultrasound of the brain, which were found to be normal by a pediatric neuroradiologist. Ultrasound of both kidneys: normal; eyes: no fixation and did not follow a near target; oculodigital sign, and refractions revealed a marked hyperopia; narrow vessels, mottled retinal pigment epithelium, and multiple white intraretinal dots. electroretinography: nondetectable rod and cone responses"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290621"	"04214"	"00397488"	"00000"	"Familial, autosomal recessive"	""	"at 18m did not exhibit visual behavior and had wandering nystagmus, oculodigital sign, high hyperopia, and nondetectable electroretinography signals"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290622"	"04214"	"00397489"	"00000"	"Familial, autosomal recessive"	""	"blind at birth with light-perception vision, posterior pole cataracts, keratoconus, and nondetectable electroretinography signals"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290651"	"04214"	"00397529"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290652"	"04214"	"00397530"	"00000"	"Familial, autosomal recessive"	"10y"	"Transitory"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290653"	"04214"	"00397531"	"00000"	"Familial, autosomal recessive"	"10y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290654"	"04214"	"00397532"	"00000"	"Familial, autosomal recessive"	"11m"	"Hypotonia, mild psychomotor retardation"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290655"	"04214"	"00397533"	"00000"	"Familial, autosomal recessive"	"11y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290656"	"04214"	"00397534"	"00000"	"Familial, autosomal recessive"	"11y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290657"	"04214"	"00397535"	"00000"	"Familial, autosomal recessive"	"12m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290658"	"04214"	"00397536"	"00000"	"Familial, autosomal recessive"	"13m"	"Transitory ataxia, normal MRI"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290659"	"04214"	"00397537"	"00000"	"Familial, autosomal recessive"	"15y"	"Autistic behaviour, normal MRI"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290660"	"04214"	"00397538"	"00000"	"Familial, autosomal recessive"	"15y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290661"	"04214"	"00397539"	"00000"	"Familial, autosomal recessive"	"15y"	"Autism"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290662"	"04214"	"00397540"	"00000"	"Familial, autosomal recessive"	"18m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290663"	"04214"	"00397541"	"00000"	"Familial, autosomal recessive"	"18m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290664"	"04214"	"00397542"	"00000"	"Familial, autosomal recessive"	"18m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290665"	"04214"	"00397543"	"00000"	"Familial, autosomal recessive"	"18m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290666"	"04214"	"00397544"	"00000"	"Familial, autosomal recessive"	"24y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290667"	"04214"	"00397545"	"00000"	"Familial, autosomal recessive"	"25y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290668"	"04214"	"00397546"	"00000"	"Familial, autosomal recessive"	"28y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290669"	"04214"	"00397547"	"00000"	"Familial, autosomal recessive"	"28y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290670"	"04214"	"00397548"	"00000"	"Familial, autosomal recessive"	"2y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290671"	"04214"	"00397549"	"00000"	"Familial, autosomal recessive"	"2y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290672"	"04214"	"00397550"	"00000"	"Familial, autosomal recessive"	"2y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290673"	"04214"	"00397551"	"00000"	"Familial, autosomal recessive"	"36y"	"Ataxia, ACL type II"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290674"	"04214"	"00397552"	"00000"	"Familial, autosomal recessive"	"37y"	"normal development, Myopia"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290675"	"04214"	"00397553"	"00000"	"Familial, autosomal recessive"	"3m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290676"	"04214"	"00397554"	"00000"	"Familial, autosomal recessive"	"3y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290677"	"04214"	"00397555"	"00000"	"Familial, autosomal recessive"	"3y"	", no hypermetropia"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290678"	"04214"	"00397556"	"00000"	"Familial, autosomal recessive"	"3y"	"mental retardation"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290679"	"04214"	"00397557"	"00000"	"Familial, autosomal recessive"	"4y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290680"	"04214"	"00397558"	"00000"	"Familial, autosomal recessive"	"4y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290681"	"04214"	"00397559"	"00000"	"Familial, autosomal recessive"	"4y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290682"	"04214"	"00397560"	"00000"	"Familial, autosomal recessive"	"56y"	"muscular weakness"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290683"	"04214"	"00397561"	"00000"	"Familial, autosomal recessive"	"5m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290684"	"04214"	"00397562"	"00000"	"Familial, autosomal recessive"	"5m"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290685"	"04214"	"00397563"	"00000"	"Familial, autosomal recessive"	"5y"	"MR"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290686"	"04214"	"00397564"	"00000"	"Familial, autosomal recessive"	"5y"	"mental retardation, molar tooth sign"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290687"	"04214"	"00397565"	"00000"	"Familial, autosomal recessive"	"8y"	"mental retardation, molar tooth sign"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290688"	"04214"	"00397566"	"00000"	"Familial, autosomal recessive"	"8y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290689"	"04214"	"00397567"	"00000"	"Familial, autosomal recessive"	"9y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290690"	"04214"	"00397568"	"00000"	"Familial, autosomal recessive"	"9y"	"normal development"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290704"	"04214"	"00397580"	"00000"	"Familial, autosomal recessive"	"7y"	"best-corrected visua acuity right/left eye: no light perception/no light perception, refraction (spherical equivalent: 17/17.75, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): not detectable/not detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290705"	"04214"	"00397581"	"00000"	"Familial, autosomal recessive"	"1y"	"best-corrected visua acuity right/left eye: hand movement/HM, refraction (spherical equivalent: 15.25/16, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): not detectable/not detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290706"	"04214"	"00397582"	"00000"	"Familial, autosomal recessive"	"14y"	"best-corrected visua acuity right/left eye: no light perception/no light perception, refraction (spherical equivalent: 15.5/15.5, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): not detectable/not detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290707"	"04214"	"00397583"	"00000"	"Familial, autosomal recessive"	"17y"	"best-corrected visua acuity right/left eye: 20/1200/20/800, refraction (spherical equivalent: 16.5/N/A, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): not detectable/not detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290708"	"04214"	"00397584"	"00000"	"Familial, autosomal recessive"	"19y"	"best-corrected visua acuity right/left eye: 20/63/20/50, refraction (spherical equivalent: 12.75/13.25, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): 13/15"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290709"	"04214"	"00397585"	"00000"	"Familial, autosomal recessive"	"20y"	"best-corrected visua acuity right/left eye: 20/400/20/50, refraction (spherical equivalent: 17.75/14, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): 8/8"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290710"	"04214"	"00397586"	"00000"	"Familial, autosomal recessive"	"26y"	"best-corrected visua acuity right/left eye: light perception/LP, refraction (spherical equivalent: 14/14, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): 2/4"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290711"	"04214"	"00397587"	"00000"	"Familial, autosomal recessive"	"48y"	"best-corrected visua acuity right/left eye: no light perception/no light perception, refraction (spherical equivalent: 16/16, kinetic visual field extent (V-4e;  percentage of normal mean of V-4e target; 2 SD below normal equals 90%): not detectable/not detectable"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290750"	"04214"	"00397626"	"00000"	"Familial, autosomal recessive"	"6y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis, atrial septal defect"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290751"	"04214"	"00397627"	"00000"	"Familial, autosomal recessive"	"6y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290752"	"04214"	"00397628"	"00000"	"Familial, autosomal recessive"	"13y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290753"	"04214"	"00397629"	"00000"	"Familial, autosomal recessive"	"20y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290754"	"04214"	"00397630"	"00000"	"Familial, autosomal recessive"	"34y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290755"	"04214"	"00397631"	"00000"	"Familial, autosomal recessive"	"30y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290756"	"04214"	"00397632"	"00000"	"Familial, autosomal recessive"	"2y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis, encephalocele"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290757"	"04214"	"00397633"	"00000"	"Familial, autosomal recessive"	"6y"	"eye phenotype characteristic of retinitis pigmentosa; vision reduction, nephronophthisis, ventricular septal defect"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290758"	"04214"	"00397634"	"00000"	"Familial, autosomal recessive"	"10y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis , complete situs inversus"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290759"	"04214"	"00397635"	"00000"	"Familial, autosomal recessive"	"8y"	"eye phenotype normal, normal ultrasound, urinary concentration testing not performed"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290760"	"04214"	"00397636"	"00000"	"Familial, autosomal recessive"	"5y"	"eye phenotype normal, nephronophthisis"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290761"	"04214"	"00397637"	"00000"	"Familial, autosomal recessive"	"10y"	"eye phenotype characteristic of Leber congenital amaurosis, ultrasound and urinary concentration testing not performed, lobulated tongue, postaxial polydactyly, cardiomegaly"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290762"	"04214"	"00397638"	"00000"	"Familial, autosomal recessive"	"2y"	"eye phenotype characteristic of Leber congenital amaurosis, normal ultrasound, urinary concentration testing not performed"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290763"	"04214"	"00397639"	"00000"	"Familial, autosomal recessive"	"3y"	"eye phenotype characteristic of Leber congenital amaurosis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290764"	"04214"	"00397640"	"00000"	"Familial, autosomal recessive"	"12y"	"eye phenotype characteristic of Leber congenital amaurosis; retinal coloboma, nephronophthisis , No mental retardation"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290765"	"04214"	"00397641"	"00000"	"Familial, autosomal recessive"	"6y"	"eye phenotype characteristic of Leber congenital amaurosis, normal ultrasound, urinary concentration testing not performed"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290766"	"04214"	"00397642"	"00000"	"Familial, autosomal recessive"	"6y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290767"	"04214"	"00397643"	"00000"	"Familial, autosomal recessive"	"17y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290768"	"04214"	"00397644"	"00000"	"Familial, autosomal recessive"	"7y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290769"	"04214"	"00397645"	"00000"	"Familial, autosomal recessive"	"8y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290770"	"04214"	"00397646"	"00000"	"Familial, autosomal recessive"	"10y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290771"	"04214"	"00397647"	"00000"	"Familial, autosomal recessive"	"12y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290772"	"04214"	"00397648"	"00000"	"Familial, autosomal recessive"	"13y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290773"	"04214"	"00397649"	"00000"	"Familial, autosomal recessive"	"28y"	""	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290774"	"04214"	"00397650"	"00000"	"Familial, autosomal recessive"	"15y"	"eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290780"	"04214"	"00397653"	"00000"	"Familial, autosomal recessive"	""	"eye phenotype characteristic of Leber congenital amaurosis, retinal coloboma, mental retardation/psychomotor retardation"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290781"	"04214"	"00397654"	"00000"	"Familial, autosomal recessive"	""	"eye phenotype characteristic of Leber congenital amaurosis, retinal coloboma, mental retardation/psychomotor retardation"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290782"	"04214"	"00397655"	"00000"	"Familial, autosomal recessive"	""	"eye phenotype characteristic of Leber congenital amaurosis, nystagmus, cerebellar vermis aplasia/hypoplasia, mental retardation/psychomotor retardation, spastic paresis, liver fibrosis"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290783"	"04214"	"00397656"	"00000"	"Familial, autosomal recessive"	""	"eye phenotype characteristic of Leber congenital amaurosis (5 months), mental retardation/psychomotor retardation, empty sella, hypoplasia of the optic chiasm, hypothalamic hypoplasia, (breathing, abnormality, pes planus)"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290784"	"04214"	"00397657"	"00000"	"Familial, autosomal recessive"	""	"nystagmus, early-onset tapetoretinal degeneration, keratoconus, vision <1 (early childhood), complex focal seizures (hyperlipidaemia, scoliosis)"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290785"	"04214"	"00397658"	"00000"	"Familial, autosomal recessive"	""	"eye phenotype characteristic of Leber congenital amaurosis, nystagmus, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation/psychomotor retardation"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290786"	"04214"	"00397659"	"00000"	"Familial, autosomal recessive"	""	"eye phenotype characteristic of Leber congenital amaurosis, nystagmus, cerebellar vermis aplasia/hypoplasia, mental retardation/psychomotor retardation"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290787"	"04214"	"00397660"	"00000"	"Familial, autosomal recessive"	""	"nystagmus, esotropia, retinal dystrophy, mental retardation/psychomotor retardation, hypotonia (scoliosis)"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290788"	"04214"	"00397661"	"00000"	"Familial, autosomal recessive"	""	"tapetoretinal degeneration (vision 1/10 at 44)"	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""	""
"0000290791"	"04214"	"00397664"	"00000"	"Familial, autosomal recessive"	"26y"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290804"	"04214"	"00397677"	"00000"	"Familial, autosomal recessive"	"11y"	"Chronic rhinitis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290805"	"04214"	"00397678"	"00000"	"Familial, autosomal recessive"	"25y"	"Recurrent sinusitis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290806"	"04214"	"00397679"	"00000"	"Familial, autosomal recessive"	"9y"	"Recurrent bronchitis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290807"	"04214"	"00397680"	"00000"	"Familial, autosomal recessive"	"9y"	"Chronic rhinitis with hyposmia, otitis, bronchitis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290808"	"04214"	"00397681"	"00000"	"Familial, autosomal recessive"	"44y"	"asthenospermia"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290809"	"04214"	"00397682"	"00000"	"Familial, autosomal recessive"	"16y"	"Recurrent otitis, recurrent pharyngitis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290810"	"04214"	"00397683"	"00000"	"Familial, autosomal recessive"	"16y"	"Recurrent otitis, recurrent pharyngitis"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000290811"	"04214"	"00397684"	"00000"	"Familial, autosomal recessive"	""	"aborted spontaneously at 21.5 weeks of gestation; fetal pathological examination: eutrophic female fetus with facial dysmorphism (slight hypertelorism and dolichocephaly) and a small occipital meningoencephalocele; bilateral renal cysts characteristic of MKS at histology and mild hepatic ductal dysplasia; occipital meningoencephalocele and hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies (“molar tooth” appearance of the cerebral and superior cerebellar peduncles, fragmented dentate nucleus, asymmetric anomalies of corticospinal tracts, hypoplastic inferior oli"	""	""	""	""	""	""	""	""	"Meckel syndrome"	""	""
"0000290812"	"04214"	"00397685"	"00000"	"Familial, autosomal recessive"	"36y"	"Intellectual disability; visual acuity right/left eye: 3/10 5/10; vermian agenesis and deep interpeduncular fossa forming molar tooth sign were detected in the brain magnetic resonance imaging; End stage renal disease; atrophic original kidneys; occipital nodule; skin wart (hand)"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290813"	"04214"	"00397686"	"00000"	"Familial, autosomal recessive"	"31y"	"Intellectual disability; visual  acuity right/left eye: counting fingers 2m; vermian agenesis and deep interpeduncular fossa forming molar tooth sign were detected in the brain magnetic resonance imaging; renal cortical cyst, decreased parenchymal thickness"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290814"	"04214"	"00397687"	"00000"	"Familial, autosomal recessive"	"24y"	"Intellectual disability; visual acuity right/left eye: counting fingers 1m; vermian agenesis and deep interpeduncular fossa forming molar tooth sign were detected in the brain magnetic resonance imaging;  occipital nodule, increased serum uric acid"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290817"	"04214"	"00397690"	"00000"	"Familial, autosomal recessive"	"10y"	"abnormal eye movements on both eyes; delayed development of gross and fine motor skills; age of 3 could not walk for a long distance without any support; autonomic nervous system: no problems with urination and defecation, but cannot finish independently; at 9 years of age, magnetic resonance imaging of the brain revealed classical molar tooth sign clinically: horizontal thickening and elongation of the superior cerebellar peduncles; delayed development of speech was also noticed. Doctors cannot understand his words without translation; lower cognitive abilities for his age; clinical symptoms worsened progressively"	"10m"	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000290968"	"04214"	"00397841"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease at young age"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000291019"	"04214"	"00397891"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291020"	"04214"	"00397892"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291021"	"04214"	"00397893"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291022"	"04214"	"00397894"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291023"	"04214"	"00397895"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291024"	"04214"	"00397896"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291025"	"04214"	"00397897"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291026"	"04214"	"00397898"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291027"	"04214"	"00397899"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291028"	"04214"	"00397900"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291029"	"04214"	"00397901"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291030"	"04214"	"00397902"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291031"	"04214"	"00397903"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291032"	"04214"	"00397904"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291033"	"04214"	"00397905"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291034"	"04214"	"00397906"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291035"	"04214"	"00397907"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291036"	"04214"	"00397908"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291037"	"04214"	"00397909"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291038"	"04214"	"00397910"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291039"	"04214"	"00397911"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291040"	"04214"	"00397912"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291041"	"04214"	"00397913"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291042"	"04214"	"00397914"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291043"	"04214"	"00397915"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291044"	"04214"	"00397916"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291045"	"04214"	"00397917"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291046"	"04214"	"00397918"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291047"	"04214"	"00397919"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291048"	"04214"	"00397920"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291049"	"04214"	"00397921"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291050"	"04214"	"00397922"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291051"	"04214"	"00397923"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291052"	"04214"	"00397924"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291053"	"04214"	"00397925"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291054"	"04214"	"00397926"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291055"	"04214"	"00397927"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291056"	"04214"	"00397928"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291057"	"04214"	"00397929"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291058"	"04214"	"00397930"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291161"	"04214"	"00398033"	"00000"	"Familial, autosomal recessive"	"18y"	"No nystagmus, no photophobia, photo-attraction, night discomfort, scotopic and photopic electroretinogram non-recordable, visual acuity: RE=20/40, LE=20/30"	""	""	""	""	""	""	""	""	"early-onset severe retinal dystrophy"	""	""
"0000291162"	"04214"	"00398034"	"00000"	"Familial, autosomal recessive"	"33y"	"No nystagmus, no photophobia, photo-attraction, night discomfort, scotopic and photopic electroretinogram non-recordable, visual acuity: RE=20/100, LE=20/400"	""	""	""	""	""	""	""	""	"early-onset severe retinal dystrophy"	""	""
"0000291163"	"04214"	"00398035"	"00000"	"Familial, autosomal recessive"	"3y"	"Nystagmus, photophobia, scotopic and photopic electroretinogram non-recordable; no visual acuity"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291164"	"04214"	"00398036"	"00000"	"Familial, autosomal recessive"	"33y"	"Nystagmus, photophobia, scotopic and photopic electroretinogram non-recordable; no visual acuity"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291165"	"04214"	"00398037"	"00000"	"Familial, autosomal recessive"	""	"embryo"	""	""	""	""	""	""	""	""	"Meckel syndrome"	""	""
"0000291319"	"04214"	"00398208"	"00000"	"Familial, autosomal recessive"	"19y"	"marked cognitive impairment, dysarthria, ataxia, nystagmus, polyuria and advanced chronic kidney disease stage 5"	""	""	""	""	""	""	""	""	"Joubert Syndrome"	""	""
"0000291320"	"04214"	"00398209"	"00000"	"Familial, autosomal recessive"	"19y"	"marked cognitive impairment, dysarthria, ataxia, nystagmus, polyuria and advanced chronic kidney disease stage 4"	""	""	""	""	""	""	""	""	"Joubert Syndrome"	""	""
"0000291321"	"04214"	"00398210"	"00000"	"Familial, autosomal recessive"	"9y"	"marked cognitive impairment, dysarthria, ataxia, advanced renal disease"	""	""	""	""	""	""	""	""	"Joubert Syndrome"	""	""
"0000291324"	"04214"	"00398213"	"00000"	"Familial, autosomal recessive"	"7y"	"best-corrected visual acuity right/left eye: 0.03/0.3, nystagmus, no cataract, strabismus, no keratoconus, oculodigital sign"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291325"	"04214"	"00398214"	"00000"	"Familial, autosomal recessive"	"6y"	"best-corrected visual acuity right/left eye: 0.005/0.005, electroretinogram: preserved responses, nystagmus, no cataract, no strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291326"	"04214"	"00398215"	"00000"	"Familial, autosomal recessive"	"10y"	"best-corrected visual acuity right/left eye: 0.005/0.005, electroretinogram extinguished, nystagmus, no cataract, no strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291327"	"04214"	"00398216"	"00000"	"Familial, autosomal recessive"	"16y"	"best-corrected visual acuity right/left eye: 0.005/0.005, electroretinogram extinguished, nystagmus, cataract, strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291328"	"04214"	"00398217"	"00000"	"Familial, autosomal recessive"	"35y"	"best-corrected visual acuity right/left eye: 0/0.2, electroretinogram extinguished, nystagmus, cataract, strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291329"	"04214"	"00398218"	"00000"	"Familial, autosomal recessive"	"54y"	"best-corrected visual acuity right/left eye: 0.05/0.1, electroretinogram extinguished, nystagmus, cataract, strabismus, no keratoconus, no oculodigital sign"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291330"	"04214"	"00398219"	"00000"	"Familial, autosomal recessive"	"57y"	"best-corrected visual acuity right/left eye: 0/0, nystagmus, no cataract, no strabismus, no keratoconus, oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291331"	"04214"	"00398220"	"00000"	"Familial, autosomal recessive"	"8y"	"best-corrected visual acuity right/left eye: 0/0, electroretinogram extinguished, nystagmus, no cataract, no strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291332"	"04214"	"00398221"	"00000"	"Familial, autosomal recessive"	"11y"	"best-corrected visual acuity right/left eye: 0/0, electroretinogram extinguished, nystagmus, cataract, no strabismus, oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291333"	"04214"	"00398222"	"00000"	"Familial, autosomal recessive"	"28y"	"best-corrected visual acuity right/left eye: 0/0, nystagmus, no cataract, no strabismus, keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291334"	"04214"	"00398223"	"00000"	"Familial, autosomal recessive"	"28y"	"best-corrected visual acuity right/left eye: 0.25/0.5, electroretinogram extinguished, no cataract, no strabismus, no keratoconus, no oculodigital sign"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000291335"	"04214"	"00398224"	"00000"	"Familial, autosomal recessive"	"28y"	"best-corrected visual acuity right/left eye: 0.1/0.2, electroretinogram extinguished, nystagmus, no cataract, strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291336"	"04214"	"00398225"	"00000"	"Familial, autosomal recessive"	"32y"	"best-corrected visual acuity right/left eye: 0/0, nystagmus, cataract, no strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291337"	"04214"	"00398226"	"00000"	"Familial, autosomal recessive"	"32y"	"best-corrected visual acuity right/left eye: 0.5/0.8, electroretinogram extinguished, nystagmus, no cataract, strabismus, no keratoconus, no oculodigital sign"	"<3y"	""	""	""	""	""	""	""	"early-onset severe retinal dystrophy"	""	""
"0000291338"	"04214"	"00398227"	"00000"	"Familial, autosomal recessive"	"33y"	"best-corrected visual acuity right/left eye: 0.8/0.8, electroretinogram: preserved responses, no nystagmus, cataract, no strabismus, no keratoconus, no oculodigital sign"	"<12y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000291339"	"04214"	"00398228"	"00000"	"Familial, autosomal recessive"	"39y"	"best-corrected visual acuity right/left eye: 0/0, no cataract, no strabismus, keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291340"	"04214"	"00398229"	"00000"	"Familial, autosomal recessive"	"48y"	"best-corrected visual acuity right/left eye: 0.005/0.005, electroretinogram extinguished, nystagmus, cataract, no strabismus, keratoconus, oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291341"	"04214"	"00398230"	"00000"	"Familial, autosomal recessive"	"72y"	"best-corrected visual acuity right/left eye: 0.005/0.005, nystagmus, cataract, no strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291342"	"04214"	"00398231"	"00000"	"Familial, autosomal recessive"	"28y"	"best-corrected visual acuity right/left eye: 0.32/0.63, electroretinogram extinguished, nystagmus, no cataract, no strabismus, no keratoconus, no oculodigital sign"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291343"	"04214"	"00398232"	"00000"	"Familial, autosomal recessive"	"29y"	"best-corrected visual acuity right/left eye: 0.8/0.8, electroretinogram extinguished, no nystagmus, cataract, no strabismus, no keratoconus, no oculodigital sign"	"<18y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000291344"	"04214"	"00398233"	"00000"	"Familial, autosomal recessive"	"31y"	"best-corrected visual acuity right/left eye: 0.125/0.16, electroretinogram extinguished, cataract, no strabismus, no keratoconus, no oculodigital sign"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291345"	"04214"	"00398234"	"00000"	"Familial, autosomal recessive"	"39y"	"best-corrected visual acuity right/left eye: 0/0, electroretinogram extinguished, nystagmus, cataract, strabismus, no keratoconus, no oculodigital sign"	"<1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000291346"	"04214"	"00398235"	"00000"	"Familial, autosomal recessive"	"66y"	"best-corrected visual acuity right/left eye: 0.05/0.014, electroretinogram: preserved responses, no nystagmus, no cataract, no strabismus, no keratoconus, no oculodigital sign"	"<18y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000291347"	"04214"	"00398237"	"00000"	"Familial, autosomal recessive"	"54y"	"8-year history of recurrent abrupt-onset transient vertical diplopia lasting between a few minutes to 5 hours; no nystagmus, dysarthria, myokymia, tonic upgaze, hearing loss, or behavioral abnormality; magnetic resonance imaging of the brain revealed mild generalized cerebral and cerebellar atrophy"	""	""	""	""	""	""	""	""	"Episodic Ataxia"	""	""
"0000294775"	"00700"	"00402012"	"02473"	"Familial, autosomal recessive"	"02y"	"Chronic kidney disease (HPO 0012622)\r\nhorizontal gaze palsy (HPO 0000666)\r\nptosis right eye (HPO 0007687)\r\nMolar tooth sign (HPO 0002419)\r\nDandy Walker anomaly (HPO 0001305)\r\nHyperechoic kidneys with loss of corticomedullary differentiation (HPO 0005565)"	"00y00m01d"	"02y"	""	""	""	""	""	""	"Joubert syndrome type 5"	"Joubert syndrome"	""
"0000295665"	"05992"	"00402917"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"CHAPLE"	"protein-losing enteropathy, thrombosis"	""
"0000298895"	"04214"	"00406408"	"00000"	"Familial, autosomal recessive"	""	", nystagmus, vitreous cells, narrow versus, severe taporetinal dystrophy"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298896"	"04214"	"00406409"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298897"	"04214"	"00406410"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298898"	"04214"	"00406411"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298899"	"04214"	"00406412"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298900"	"04214"	"00406413"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298901"	"04214"	"00406414"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298902"	"04214"	"00406415"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298903"	"04214"	"00406416"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298904"	"04214"	"00406417"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298905"	"04214"	"00406418"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298906"	"04214"	"00406419"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298907"	"04214"	"00406420"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298908"	"04214"	"00406421"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298909"	"04214"	"00406422"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298910"	"04214"	"00406423"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298911"	"04214"	"00406424"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: no light perception, non-recordable electroretinogram, sluggish pupils, high hyperopia, nystagmus"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298912"	"04214"	"00406425"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298913"	"04214"	"00406426"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298931"	"04214"	"00406444"	"00000"	"Familial, autosomal recessive"	"5y"	"best corrected visual acuity better eye: light perception"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298932"	"04214"	"00406445"	"00000"	"Familial, autosomal recessive"	"14y"	"best corrected visual acuity better eye: 20/40"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298933"	"04214"	"00406446"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity better eye: 20/60"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298934"	"04214"	"00406447"	"00000"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity better eye: hand motion"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298935"	"04214"	"00406448"	"00000"	"Familial, autosomal recessive"	"32y"	"best corrected visual acuity better eye: light perception"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298936"	"04214"	"00406449"	"00000"	"Familial, autosomal recessive"	"35y"	"best corrected visual acuity better eye: hand motion"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000298937"	"04214"	"00406450"	"00000"	"Familial, autosomal recessive"	"44y"	"best corrected visual acuity better eye: 10/120"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299764"	"04214"	"00407599"	"00000"	"Familial, autosomal recessive"	"8y"	"best corrected visual acuity right/left eye: no light perception /no light perception , refraction:+7/+7, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: not availab"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299765"	"04214"	"00407600"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right/left eye: light perception /light perception , refraction:+8/+7.25, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 27"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299766"	"04214"	"00407601"	"00000"	"Familial, autosomal recessive"	"19y"	"best corrected visual acuity right/left eye: no light perception /no light perception , refraction:+11/+11, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: not availab"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299767"	"04214"	"00407602"	"00000"	"Familial, autosomal recessive"	"24y"	"best corrected visual acuity right/left eye: no light perception /light perception , refraction:+8.5/+7.5, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: not availab"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299768"	"04214"	"00407603"	"00000"	"Familial, autosomal recessive"	"27y"	"best corrected visual acuity right/left eye: 20/800/20/800, refraction:+3/+3, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299769"	"04214"	"00407604"	"00000"	"Familial, autosomal recessive"	"33y"	"best corrected visual acuity right/left eye: hand motions/hand motions, refraction:0/0, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 25"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000299796"	"04214"	"00407649"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease (years): 7.4, extra-renal manifestations: none"	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000299811"	"04214"	"00407664"	"00000"	"Familial, autosomal recessive"	""	"extra-renal manifestations: Leber congenital amaurosis, cataract, cerebellar vermis aplasia, mental retardation"	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000300530"	"04214"	"00408414"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis/rod-cone dystrophy"	""	""
"0000300918"	"05109"	"00408799"	"00000"	"Familial, autosomal recessive"	""	"prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis+, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000300927"	"05109"	"00408808"	"00000"	"Familial, autosomal recessive"	""	"prominent forehead, no hemifacial spasms, no strabismus, impaired smooth pursuit, oculomotor apraxia, no upturned nose, no anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance findings; retinal dystr"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000300928"	"05109"	"00408809"	"00000"	"Familial, autosomal recessive"	""	"prominent forehead, no hemifacial spasms, no strabismus, impaired smooth pursuit, oculomotor apraxia, no upturned nose, no anteverted nostrils, no hepatic fibrosis, many renal cysts, polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000309980"	"04212"	"00418680"	"00000"	"Familial, autosomal recessive"	""	"BBS diagnosed during the second trimester of pregnancy with prenatal suspicion presented by routine ultrasound examination findings of enlarged and hyperechogenic kidneys; unilateral right postaxial foot polydactyly observed on the 20-week scan, no other relevant findings; the bladder size and amniotic fluid appeared normal until late pregnancy; prenatal ultrasound examination and assessment of fetal growth - no other relevant abnormalities during the third trimester of pregnancy. Labor induced at 37 weeks due to oligo-anhydramnios and the suspicion of renal function deterioration; assisted vaginal delivery with forceps; 3480-g male neonate, Apgar 6/8, pH 7.23, was born in our center; no resuscitation was required; the baby was admitted to the neonatal intensive care unit (NICU) due to hypoglycemia and for further study; abdominal distension and vomiting: 24 h after birth; abdominal X-ray: a markedly dilated bowel; nasogastric tube was placed, and serial rectal irrigations were performed; fever and increased abdominal distension evident 4 days after delivery; emergent laparotomy was conducted - during the procedure, a sigmoid perforation closure, ileostomy, and biopsy were performed with no relevant complications. Histologic evaluation of the biopsy demonstrated an absence of ganglion cells in the sigmoid submucosal and myenteric plexuses, which indicates a definitive finding of Hirschsprung disease; discharged from the NICU after one month with spontaneous diuresis of 2.9 cc/kg/h and a creatinine level of 0.69 mg/dL"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000311638"	"04214"	"00420390"	"00000"	"Familial, autosomal recessive"	"56y10m"	""	"52y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311650"	"04214"	"00420402"	"00000"	"Familial, autosomal recessive"	"24y5m"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311687"	"04214"	"00420439"	"00000"	"Familial, autosomal recessive"	"61y6m"	""	"55y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311702"	"04214"	"00420454"	"00000"	"Familial, autosomal recessive"	"41y5m"	""	"19y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311767"	"04214"	"00420519"	"00000"	"Familial, autosomal recessive"	"23y7m"	""	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000311805"	"04214"	"00420557"	"00000"	"Familial, autosomal recessive"	"1y7m"	""	"1y"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000311833"	"04214"	"00420585"	"00000"	"Familial, autosomal recessive"	"68y"	""	"60y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000318065"	"04214"	"00426927"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000318066"	"04214"	"00426928"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000318080"	"04214"	"00426942"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000320379"	"04210"	"00429507"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320423"	"04210"	"00429551"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320484"	"04210"	"00429612"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320552"	"00112"	"00429680"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320603"	"00112"	"00429731"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320706"	"00112"	"00429834"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320783"	"00112"	"00429911"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320821"	"04210"	"00429949"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320862"	"00112"	"00429990"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320903"	"00112"	"00430031"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320919"	"04210"	"00430047"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326753"	"00702"	"00436606"	"04552"	"Familial, autosomal recessive"	"01y"	"Blindness HP:0000618, Retinitis pigmentosa HP:0000510"	"00y04m"	"04y"	""	""	""	""	""	""	"# 611755"	""	""
"0000326850"	"00702"	"00436736"	"04552"	"Familial, autosomal recessive"	"00y04m"	"HP: 0007875 Congenital Amaurosis"	"00y04m"	"04y"	"0y04m"	""	""	""	""	""	"# 611755"	"LCA10"	""
"0000332807"	"05578"	"00033208"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332808"	"05578"	"00443482"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332809"	"05578"	"00443483"	"00006"	"Familial, autosomal recessive"	""	"seee paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332810"	"05578"	"00033245"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332811"	"05578"	"00033194"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332812"	"05578"	"00033254"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332813"	"05578"	"00033238"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332814"	"05578"	"00033242"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332815"	"05578"	"00033296"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332816"	"05578"	"00033214"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332817"	"05578"	"00443484"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332818"	"05578"	"00443485"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332819"	"05578"	"00033307"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332820"	"05578"	"00443486"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332821"	"05578"	"00443487"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000332855"	"05578"	"00443521"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"mks4"	"Meckel syndrome"	""
"0000332856"	"05578"	"00443522"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS4"	"Meckel syndrome"	""
"0000336125"	"00198"	"00446926"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336171"	"00198"	"00446972"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336184"	"00198"	"00446985"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336197"	"00198"	"00446998"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336341"	"00198"	"00447142"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000336342"	"00198"	"00447143"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000336479"	"00198"	"00447280"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336728"	"00198"	"00447529"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000336805"	"00198"	"00447606"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336917"	"00198"	"00447718"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000339040"	"04214"	"00449980"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LCA10"	"retinal disease"	""
"0000339041"	"04214"	"00449981"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LCA10"	"retinal disease"	""
"0000348578"	"04214"	"00461078"	"00006"	"Familial, autosomal recessive"	""	""	"1y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000348624"	"04214"	"00461124"	"00006"	"Familial, autosomal recessive"	""	""	"0y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000349800"	"00198"	"00462301"	"00006"	"Familial, autosomal recessive"	""	"21gw-molar tooth sign, occipital meningocele, hyperechogenic kidneys, postaxial polydactyly"	""	""	""	""	""	""	""	""	""	"suspected ciliopathy"	""
"0000352242"	"00700"	"00466879"	"02473"	"Familial, autosomal recessive"	"00y03m"	"Nystagmus, reduced visual acuity, molar tooth sigh on brain MRI"	"00y03m"	"00y03m"	""	""	""	""	""	""	"JBTS5"	"Joubert syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 939
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000023"	"00000023"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000087"	"00000087"	"1"	"00004"	""	"2012-05-11 13:19:14"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000028950"	"00028919"	"1"	"01188"	"01188"	"2015-01-05 14:43:07"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028955"	"00028923"	"1"	"01188"	"01188"	"2015-01-05 15:36:53"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000033147"	"00033079"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033148"	"00033080"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"DHPLC"	"DNA"	""	""
"0000033149"	"00033081"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033150"	"00033082"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033151"	"00033083"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033152"	"00033084"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"DHPLC"	"DNA"	""	""
"0000033153"	"00033085"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"DHPLC"	"DNA"	""	""
"0000033154"	"00033086"	"1"	"00006"	"00006"	"2012-02-03 17:19:27"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033202"	"00033134"	"1"	"00229"	"00229"	"2012-02-04 14:52:54"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033211"	"00033143"	"1"	"00229"	"00229"	"2012-02-04 14:52:54"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033259"	"00033191"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033260"	"00033192"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033261"	"00033193"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033262"	"00033194"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033263"	"00033195"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033264"	"00033196"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033265"	"00033197"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033266"	"00033198"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033267"	"00033199"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033268"	"00033200"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033269"	"00033201"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033270"	"00033202"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033271"	"00033203"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033272"	"00033204"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033273"	"00033205"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033274"	"00033206"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033276"	"00033208"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033277"	"00033209"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033278"	"00033210"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033279"	"00033211"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033280"	"00033212"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033281"	"00033213"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033282"	"00033214"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033283"	"00033215"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033284"	"00033216"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033285"	"00033217"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033286"	"00033218"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033287"	"00033219"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033288"	"00033220"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033289"	"00033221"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033290"	"00033222"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033291"	"00033223"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033292"	"00033224"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033293"	"00033225"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033294"	"00033226"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033295"	"00033227"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033296"	"00033228"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033297"	"00033229"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033298"	"00033230"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033299"	"00033231"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033300"	"00033232"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033301"	"00033233"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033302"	"00033234"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033303"	"00033235"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033304"	"00033236"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033305"	"00033237"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033306"	"00033238"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033307"	"00033239"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033308"	"00033240"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033309"	"00033241"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033310"	"00033242"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033311"	"00033243"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033312"	"00033244"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033313"	"00033245"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033314"	"00033246"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033315"	"00033247"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033316"	"00033248"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033317"	"00033249"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033318"	"00033250"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033319"	"00033251"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033320"	"00033252"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033322"	"00033254"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033323"	"00033255"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033324"	"00033256"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033325"	"00033257"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033326"	"00033258"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033327"	"00033259"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033328"	"00033260"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033329"	"00033261"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033330"	"00033262"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033332"	"00033264"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033333"	"00033265"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033334"	"00033266"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033335"	"00033267"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033336"	"00033268"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033337"	"00033269"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033338"	"00033270"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033339"	"00033271"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033340"	"00033272"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033341"	"00033273"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033342"	"00033274"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033343"	"00033275"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033344"	"00033276"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033345"	"00033277"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033346"	"00033278"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033347"	"00033279"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033348"	"00033280"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033349"	"00033281"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033350"	"00033282"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033351"	"00033283"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033352"	"00033284"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033353"	"00033285"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033354"	"00033286"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033355"	"00033287"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033356"	"00033288"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033357"	"00033289"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033358"	"00033290"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033359"	"00033291"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033360"	"00033292"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033361"	"00033293"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033362"	"00033294"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033363"	"00033295"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033364"	"00033296"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033365"	"00033297"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033366"	"00033298"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033367"	"00033299"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033368"	"00033300"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033369"	"00033301"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033370"	"00033302"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033371"	"00033303"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033372"	"00033304"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033373"	"00033305"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033374"	"00033306"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033375"	"00033307"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033376"	"00033308"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033377"	"00033309"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033378"	"00033310"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033379"	"00033311"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033380"	"00033312"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033381"	"00033313"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033383"	"00033315"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033384"	"00033316"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033385"	"00033317"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033386"	"00033318"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033387"	"00033319"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033388"	"00033320"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033389"	"00033321"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033390"	"00033322"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033391"	"00033323"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033392"	"00033324"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033393"	"00033325"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033394"	"00033326"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033395"	"00033327"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033396"	"00033328"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033397"	"00033329"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033398"	"00033330"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033399"	"00033331"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033400"	"00033332"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033401"	"00033333"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033402"	"00033334"	"1"	"00006"	"00006"	"2012-04-13 16:52:15"	"00006"	"2012-05-18 13:59:32"	"SEQ"	"DNA"	""	""
"0000033403"	"00033335"	"1"	"00010"	"00010"	"2012-05-17 19:19:07"	"00006"	"2012-05-18 14:02:55"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000033404"	"00033336"	"1"	"00010"	"00010"	"2012-05-17 20:03:37"	"00006"	"2012-05-18 14:02:19"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000050602"	"00050657"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000056007"	"00056052"	"1"	"00552"	"00552"	"2015-12-08 16:56:51"	""	""	"SEQ-NG"	"DNA"	""	""
"0000080990"	"00080878"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000100497"	"00100094"	"1"	"01769"	"01769"	"2017-01-30 18:32:53"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000105469"	"00104996"	"1"	"01244"	"01244"	"2017-06-14 16:15:04"	""	""	"SEQ-NG-I"	"DNA"	"Whole blood"	""
"0000117838"	"00117374"	"1"	"02230"	"02230"	"2017-08-25 12:05:10"	"00006"	"2018-07-30 21:21:31"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES + Sanger validation"
"0000117839"	"00117375"	"1"	"02230"	"02230"	"2017-08-25 12:22:17"	""	""	"SEQ-NG"	"DNA;RNA"	""	"WES + Sanger validation"
"0000156272"	"00155407"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156273"	"00155408"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156274"	"00155409"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156275"	"00155410"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000174721"	"00173831"	"1"	"00006"	"00006"	"2018-04-11 18:11:48"	""	""	"SEQ"	"DNA"	""	""
"0000208520"	"00207484"	"1"	"01244"	"01244"	"2018-11-23 15:40:04"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208522"	"00207486"	"1"	"01244"	"01244"	"2018-11-23 15:58:25"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208528"	"00207492"	"1"	"01244"	"01244"	"2018-11-23 16:30:51"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208625"	"00207588"	"1"	"01244"	"01244"	"2018-11-26 10:22:26"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208657"	"00207619"	"1"	"01244"	"01244"	"2018-11-26 17:13:22"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208701"	"00207661"	"1"	"01244"	"01244"	"2018-11-27 13:31:06"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000241537"	"00240427"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000270579"	"00269436"	"1"	"03508"	"03508"	"2019-11-27 14:02:07"	"03508"	"2019-11-27 14:28:01"	"SEQ-NG"	"DNA"	"Blood"	"Targeted gene panel"
"0000270580"	"00269437"	"1"	"03508"	"03508"	"2019-11-27 14:13:38"	""	""	"SEQ-NG"	"DNA"	"Blood"	"Targeted gene panel"
"0000270582"	"00269438"	"1"	"03508"	"03508"	"2019-11-27 14:39:58"	""	""	"SEQ-NG"	"DNA"	"Blood"	"Targeted gene panel"
"0000270583"	"00269439"	"1"	"03508"	"03508"	"2019-11-27 23:36:06"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270584"	"00269440"	"1"	"03508"	"03508"	"2019-11-27 23:43:19"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270616"	"00269470"	"1"	"03508"	"03508"	"2019-11-28 13:18:02"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000270746"	"00269589"	"1"	"03508"	"03508"	"2019-12-01 07:51:57"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000270747"	"00269590"	"1"	"03508"	"03508"	"2019-12-01 08:01:04"	""	""	"SEQ-ON"	"DNA"	"blood"	"Targeted gene panel"
"0000270922"	"00269767"	"1"	"00006"	"00006"	"2019-12-05 11:04:07"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000270923"	"00269768"	"1"	"00006"	"00006"	"2019-12-05 11:04:07"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000270924"	"00269769"	"1"	"00006"	"00006"	"2019-12-05 11:04:07"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000270925"	"00269770"	"1"	"00006"	"00006"	"2019-12-05 11:04:07"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000270927"	"00269772"	"1"	"00006"	"00006"	"2019-12-05 11:24:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000270929"	"00269774"	"1"	"00006"	"00006"	"2019-12-05 11:24:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000270930"	"00269775"	"1"	"00006"	"00006"	"2019-12-05 11:24:58"	"00006"	"2019-12-05 11:34:34"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000271122"	"00269969"	"1"	"01848"	"01848"	"2019-12-11 07:41:05"	""	""	"SEQ-NG"	"DNA"	""	"clinical exome sequencing"
"0000291974"	"00290806"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291975"	"00290807"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291976"	"00290808"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291977"	"00290809"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291978"	"00290810"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291979"	"00290811"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291980"	"00290812"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291981"	"00290813"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291982"	"00290814"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291983"	"00290815"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291984"	"00290816"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296530"	"00295362"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296540"	"00295372"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296674"	"00295506"	"1"	"01807"	"01807"	"2020-03-12 11:13:33"	""	""	"SEQ"	"DNA"	""	""
"0000301719"	"00300598"	"1"	"01848"	"00006"	"2020-05-03 17:19:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000305512"	"00304383"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305513"	"00304384"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309637"	"00308492"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309638"	"00308493"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000310173"	"00309028"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310174"	"00309029"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310175"	"00309030"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310176"	"00309031"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000316660"	"00315483"	"1"	"01164"	"01164"	"2020-10-26 15:40:27"	""	""	"SEQ-NG-I"	"DNA"	"native amniotic fluid"	""
"0000326702"	"00325491"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329137"	"00327922"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329242"	"00328027"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329245"	"00328030"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000332572"	"00331353"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332573"	"00331354"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332574"	"00331355"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332575"	"00331356"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332576"	"00331357"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332577"	"00331358"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332954"	"00331735"	"1"	"00000"	"00006"	"2021-02-13 09:57:26"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	""
"0000333408"	"00332188"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333409"	"00332189"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333485"	"00332265"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333493"	"00332273"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333495"	"00332275"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333570"	"00332347"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333571"	"00332348"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333572"	"00332349"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333573"	"00332350"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333574"	"00332351"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333614"	"00332390"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333615"	"00332391"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333684"	"00332460"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000333688"	"00332464"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000333697"	"00332473"	"1"	"00006"	"00006"	"2021-02-19 15:20:00"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000333698"	"00332474"	"1"	"00006"	"00006"	"2021-02-19 15:22:15"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000333699"	"00332475"	"1"	"00006"	"00006"	"2021-02-19 15:24:06"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000334578"	"00333353"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334585"	"00333360"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334686"	"00333461"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000334687"	"00333462"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000334697"	"00333472"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000335038"	"00333812"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335039"	"00333813"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335121"	"00333895"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335122"	"00333896"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335158"	"00333932"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335159"	"00333933"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335160"	"00333934"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335161"	"00333935"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335162"	"00333936"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335163"	"00333937"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335168"	"00333942"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335169"	"00333943"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335170"	"00333944"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335171"	"00333945"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335192"	"00333966"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335193"	"00333967"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335194"	"00333968"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335325"	"00334099"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336325"	"00335096"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336326"	"00335097"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336473"	"00335244"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000336490"	"00335261"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336491"	"00335262"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336492"	"00335263"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336493"	"00335264"	"1"	"02485"	"00006"	"2021-03-04 16:18:39"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336562"	"00335333"	"1"	"02485"	"00006"	"2021-03-04 17:06:33"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336563"	"00335334"	"1"	"02485"	"00006"	"2021-03-04 17:06:33"	""	""	"SEQ-NG"	"DNA"	""	"68-gene panel"
"0000336673"	"00335444"	"1"	"00006"	"00006"	"2021-03-05 16:28:41"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000336707"	"00335478"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336708"	"00335479"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336709"	"00335480"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336764"	"00335535"	"1"	"00006"	"00006"	"2021-03-07 16:28:53"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"WES"
"0000336766"	"00335537"	"1"	"00006"	"00006"	"2021-03-07 16:36:11"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"WES"
"0000360047"	"00358817"	"1"	"00000"	"00006"	"2021-03-12 18:57:14"	""	""	"arrayCGH;PCRlr;SEQ-NG"	"DNA"	""	""
"0000360077"	"00358845"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360079"	"00358847"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360080"	"00358848"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360083"	"00358851"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	"00006"	"2021-03-16 16:49:32"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000360084"	"00358852"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360087"	"00358855"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360097"	"00358865"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360102"	"00358870"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360126"	"00358893"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360127"	"00358894"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360128"	"00358895"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360129"	"00358896"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360130"	"00358897"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360187"	"00358950"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360202"	"00358965"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360203"	"00358966"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360278"	"00359040"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360290"	"00359052"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360296"	"00359058"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360299"	"00359061"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360301"	"00359063"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360319"	"00359081"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360322"	"00359084"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360323"	"00359085"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360324"	"00359086"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360330"	"00359092"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360334"	"00359096"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360424"	"00359186"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360569"	"00359328"	"1"	"00000"	"00006"	"2021-03-19 13:20:32"	""	""	"SEQ-NG"	"DNA"	""	"105-gene panel"
"0000360620"	"00359378"	"1"	"00000"	"00006"	"2021-03-19 18:50:51"	""	""	"SEQ-NG"	"DNA"	""	"64-gene panel"
"0000363316"	"00362087"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364162"	"00362934"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364167"	"00362939"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364624"	"00363396"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364679"	"00363451"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"195-gene panel"
"0000364790"	"00363562"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364791"	"00363563"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364851"	"00363623"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373289"	"00372062"	"1"	"00000"	"00006"	"2021-05-06 16:52:04"	""	""	"PE;SEQ"	"DNA"	""	""
"0000373452"	"00372223"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373453"	"00372224"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373454"	"00372225"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373455"	"00372226"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373456"	"00372227"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373457"	"00372228"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373458"	"00372229"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373459"	"00372230"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373460"	"00372231"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373461"	"00372232"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373462"	"00372233"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373463"	"00372234"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373464"	"00372235"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373465"	"00372236"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373466"	"00372237"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373467"	"00372238"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373468"	"00372239"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373469"	"00372240"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373470"	"00372241"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373471"	"00372242"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373472"	"00372243"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373473"	"00372244"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373474"	"00372245"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373475"	"00372246"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373476"	"00372247"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373477"	"00372248"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373478"	"00372249"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373479"	"00372250"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373480"	"00372251"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373481"	"00372252"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373482"	"00372253"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373483"	"00372254"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373605"	"00372376"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373606"	"00372377"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373638"	"00372405"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373653"	"00372420"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373654"	"00372421"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373655"	"00372422"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373656"	"00372423"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373657"	"00372424"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373658"	"00372425"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373693"	"00372460"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373694"	"00372461"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374616"	"00373381"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374623"	"00373388"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374625"	"00373390"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374985"	"00373752"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374986"	"00373753"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374987"	"00373754"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374988"	"00373755"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374989"	"00373756"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374990"	"00373757"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374991"	"00373758"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374992"	"00373759"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374993"	"00373760"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374996"	"00373763"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374997"	"00373764"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000374999"	"00373766"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375006"	"00373773"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375007"	"00373774"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375009"	"00373776"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375011"	"00373778"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375012"	"00373779"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375013"	"00373780"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375014"	"00373781"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375016"	"00373783"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375018"	"00373785"	"1"	"00008"	"00008"	"2021-05-19 21:57:41"	""	""	"SEQ"	"DNA"	""	""
"0000375128"	"00373896"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375188"	"00373956"	"1"	"00000"	"00006"	"2021-05-21 16:09:21"	""	""	"SEQ-NG"	"DNA"	""	""
"0000375434"	"00374240"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375435"	"00374241"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375436"	"00374242"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375437"	"00374243"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375438"	"00374244"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375879"	"00374685"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375880"	"00374686"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375881"	"00374687"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376150"	"00374956"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376627"	"00375430"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377483"	"00376287"	"1"	"00000"	"00008"	"2021-06-19 02:19:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000377950"	"00376744"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377951"	"00376745"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377955"	"00376749"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377956"	"00376750"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377959"	"00376753"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377962"	"00376756"	"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"
"0000377967"	"00376761"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377974"	"00376768"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377975"	"00376769"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377977"	"00376771"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377980"	"00376774"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377996"	"00376790"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378001"	"00376795"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378002"	"00376796"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378370"	"00377165"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA;RNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378405"	"00377200"	"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"
"0000378410"	"00377205"	"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"
"0000378418"	"00377213"	"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"
"0000378422"	"00377217"	"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"
"0000378722"	"00377519"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing"
"0000378727"	"00377524"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378748"	"00377545"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ;MLPA"	"DNA"	"blood"	"Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencingmultiplex ligation-dependent probe amplification analysis"
"0000378851"	"00377647"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378852"	"00377648"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378853"	"00377649"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378854"	"00377650"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378855"	"00377651"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378856"	"00377652"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378857"	"00377653"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378899"	"00377695"	"1"	"00006"	"00006"	"2021-08-02 12:16:14"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"candidate gene panel"
"0000378955"	"00377751"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378956"	"00377752"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378957"	"00377753"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378958"	"00377754"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378959"	"00377755"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378960"	"00377756"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378961"	"00377757"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378962"	"00377758"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378963"	"00377759"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378986"	"00377782"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000379090"	"00377886"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379102"	"00377898"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379112"	"00377908"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR;  SEQ"	"DNA"	"blood"	""
"0000379122"	"00377918"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	"blood"	""
"0000379222"	"00378020"	"1"	"03508"	"03508"	"2021-08-03 05:08:06"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000379259"	"00378016"	"1"	"03508"	"03508"	"2021-08-04 06:47:53"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380784"	"00379585"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000380792"	"00379593"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000380793"	"00379594"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380820"	"00379621"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380821"	"00379622"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380835"	"00379636"	"1"	"03508"	"03508"	"2021-08-06 04:22:24"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380857"	"00379657"	"1"	"03508"	"03508"	"2021-08-06 07:35:10"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380916"	"00379714"	"1"	"00000"	"03840"	"2021-08-06 16:45:16"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"Whole-exome sequencing"
"0000380957"	"00379756"	"1"	"03508"	"03508"	"2021-08-09 04:45:23"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000382239"	"00381025"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382240"	"00381026"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382241"	"00381027"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382253"	"00381039"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382254"	"00381040"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382259"	"00381045"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382398"	"00381183"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382399"	"00381184"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382400"	"00381185"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382401"	"00381186"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382416"	"00381201"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382417"	"00381202"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382418"	"00381203"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382419"	"00381204"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382420"	"00381205"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382421"	"00381206"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382422"	"00381207"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382812"	"00381596"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382855"	"00381639"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382864"	"00381648"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382905"	"00381689"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382909"	"00381693"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383102"	"00381886"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383150"	"00381934"	"1"	"00000"	"03840"	"2021-09-06 14:12:14"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000383461"	"00382247"	"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"
"0000383462"	"00382248"	"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"
"0000383727"	"00382513"	"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"
"0000383728"	"00382514"	"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"
"0000383729"	"00382515"	"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"
"0000383730"	"00382516"	"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"
"0000383866"	"00382652"	"1"	"00000"	"03840"	"2021-09-09 12:59:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"unsolved: single allele variant in autosomal recessive disease"
"0000383871"	"00382657"	"1"	"00000"	"03840"	"2021-09-09 12:59:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"unsolved: single allele variant in autosomal recessive disease"
"0000383872"	"00382658"	"1"	"00000"	"03840"	"2021-09-09 12:59:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"unsolved: single allele variant in autosomal recessive disease"
"0000384060"	"00382844"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"SEQ"	"DNA"	""	""
"0000384431"	"00383207"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384886"	"00383661"	"1"	"00000"	"03840"	"2021-09-29 12:18:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood;saliva"	"panel containing 18 BBS genes"
"0000385017"	"00383792"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385324"	"00384099"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385332"	"00384107"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385443"	"00384218"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385510"	"00384285"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385574"	"00384349"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385629"	"00384404"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386029"	"00384803"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386038"	"00384812"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386045"	"00384819"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386218"	"00384989"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386267"	"00385038"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386273"	"00385044"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386287"	"00385058"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;PCRq"	"DNA"	""	"targeted next-generation sequencing/quantitative PCR"
"0000386294"	"00385065"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386295"	"00385066"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386297"	"00385068"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386298"	"00385069"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted next-generation sequencing/Sanger sequencing"
"0000386386"	"00385157"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"105 genes panel"
"0000386387"	"00385158"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000386389"	"00385160"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000386462"	"00385233"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000387408"	"00386179"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387430"	"00386201"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387441"	"00386212"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387465"	"00386236"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387529"	"00386300"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387791"	"00386563"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387800"	"00386572"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387808"	"00386580"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388021"	"00386793"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388097"	"00386869"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388637"	"00387411"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388638"	"00387412"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388639"	"00387413"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388640"	"00387414"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388641"	"00387415"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388642"	"00387416"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388643"	"00387417"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388644"	"00387418"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388645"	"00387419"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388646"	"00387420"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388647"	"00387421"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388648"	"00387422"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388649"	"00387423"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388650"	"00387424"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388759"	"00387533"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388761"	"00387535"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388762"	"00387536"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388763"	"00387537"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388829"	"00387603"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ-NG;PCR"	"DNA"	"blood"	""
"0000389305"	"00388066"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389318"	"00388079"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389326"	"00388087"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389331"	"00388092"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389338"	"00388099"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389364"	"00388125"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389386"	"00388147"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389387"	"00388148"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389388"	"00388149"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389389"	"00388150"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389390"	"00388151"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389391"	"00388152"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389420"	"00388181"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389421"	"00388182"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389820"	"00388578"	"1"	"00000"	"03840"	"2021-11-04 19:02:37"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood;saliva"	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000390101"	"00388858"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390102"	"00388859"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390106"	"00388863"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390139"	"00388896"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390195"	"00388952"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390196"	"00388953"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390216"	"00388973"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390256"	"00389013"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390277"	"00389034"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390284"	"00389041"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000390397"	"00389154"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390398"	"00389155"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390433"	"00389190"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390840"	"00389597"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391004"	"00389761"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000391005"	"00389762"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000391072"	"00389829"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000391110"	"00389867"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000391166"	"00389923"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391212"	"00389969"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391267"	"00390026"	"1"	"00000"	"03840"	"2021-11-08 12:01:50"	""	""	"SEQ-NG"	"DNA"	""	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000391268"	"00390027"	"1"	"00000"	"03840"	"2021-11-08 12:01:50"	""	""	"SEQ-NG"	"DNA"	""	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000391447"	"00390206"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391448"	"00390207"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392003"	"00390762"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392010"	"00390769"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392104"	"00390863"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392798"	"00391556"	"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"
"0000392799"	"00391557"	"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"
"0000392843"	"00391602"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392844"	"00391603"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392845"	"00391604"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392846"	"00391605"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392847"	"00391606"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392848"	"00391607"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392849"	"00391608"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392850"	"00391609"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392851"	"00391610"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392852"	"00391611"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392853"	"00391612"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392854"	"00391613"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392855"	"00391614"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392856"	"00391615"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392857"	"00391616"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392858"	"00391617"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392859"	"00391618"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392860"	"00391619"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392861"	"00391620"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392862"	"00391621"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392863"	"00391622"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392864"	"00391623"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392865"	"00391624"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392866"	"00391625"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392867"	"00391626"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392961"	"00391720"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392988"	"00391747"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392989"	"00391748"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392990"	"00391749"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392991"	"00391750"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000393996"	"00392749"	"1"	"00000"	"03840"	"2021-11-23 18:48:15"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"\"\"clinical exome\"\" sequencing"
"0000394956"	"00393708"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395059"	"00393811"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395616"	"00394369"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395792"	"00394545"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395793"	"00394546"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397010"	"00395771"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397046"	"00395807"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397066"	"00395827"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397067"	"00395828"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397068"	"00395829"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397086"	"00395847"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397151"	"00395912"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397449"	"00396208"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397450"	"00396209"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000397451"	"00396210"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397452"	"00396211"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000397453"	"00396212"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397459"	"00396218"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397464"	"00396223"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP"	"DNA"	""	""
"0000397467"	"00396226"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000397469"	"00396228"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000398665"	"00397427"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398666"	"00397428"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398667"	"00397429"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398668"	"00397430"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398669"	"00397431"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398670"	"00397432"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398671"	"00397433"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398672"	"00397434"	"1"	"00000"	"03840"	"2021-12-21 13:17:59"	""	""	"SEQ;microsat"	"DNA"	""	""
"0000398674"	"00397436"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398675"	"00397437"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398676"	"00397438"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398677"	"00397439"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398678"	"00397440"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398679"	"00397441"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398680"	"00397442"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398681"	"00397443"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398682"	"00397444"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398683"	"00397445"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398684"	"00397446"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398685"	"00397447"	"1"	"00000"	"03840"	"2021-12-21 17:42:30"	""	""	"SEQ;arraySNP"	"DNA"	"blood"	""
"0000398709"	"00397470"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	"00006"	"2025-01-07 21:38:56"	"arraySNP;microsat;RT-PCR;SEQ"	"DNA;RNA"	"blood"	""
"0000398710"	"00397471"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	"00006"	"2025-01-07 21:37:26"	"arraySNP;microsat;RT-PCR;SEQ"	"DNA;RNA"	"blood"	""
"0000398711"	"00397472"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	"00006"	"2025-01-07 21:35:49"	"arraySNP;microsat;RT-PCR;SEQ"	"DNA;RNA"	"blood"	""
"0000398712"	"00397473"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	"00006"	"2025-01-07 21:35:07"	"arraySNP;microsat;RT-PCR;SEQ"	"DNA;RNA"	"blood"	""
"0000398713"	"00397474"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398714"	"00397475"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398715"	"00397476"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398716"	"00397477"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398717"	"00397478"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398718"	"00397479"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398719"	"00397480"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398720"	"00397481"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398721"	"00397482"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398722"	"00397483"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398723"	"00397484"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398724"	"00397485"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398725"	"00397486"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398726"	"00397487"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398727"	"00397488"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398728"	"00397489"	"1"	"00000"	"03840"	"2021-12-22 11:31:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398769"	"00397529"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398770"	"00397530"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398771"	"00397531"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398772"	"00397532"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398773"	"00397533"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398774"	"00397534"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398775"	"00397535"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398776"	"00397536"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398777"	"00397537"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398778"	"00397538"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398779"	"00397539"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398780"	"00397540"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398781"	"00397541"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398782"	"00397542"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398783"	"00397543"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398784"	"00397544"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398785"	"00397545"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398786"	"00397546"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398787"	"00397547"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398788"	"00397548"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398789"	"00397549"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398790"	"00397550"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398791"	"00397551"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398792"	"00397552"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398793"	"00397553"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398794"	"00397554"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398795"	"00397555"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398796"	"00397556"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398797"	"00397557"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398798"	"00397558"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398799"	"00397559"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398800"	"00397560"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398801"	"00397561"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398802"	"00397562"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398803"	"00397563"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398804"	"00397564"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398805"	"00397565"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398806"	"00397566"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ;microsat"	"DNA"	"blood"	""
"0000398807"	"00397567"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398808"	"00397568"	"1"	"00000"	"03840"	"2021-12-23 15:27:49"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000398819"	"00397580"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398820"	"00397581"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398821"	"00397582"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398822"	"00397583"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398823"	"00397584"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398824"	"00397585"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398825"	"00397586"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398826"	"00397587"	"1"	"00000"	"03840"	"2021-12-26 19:07:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398864"	"00397626"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398865"	"00397627"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398866"	"00397628"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398867"	"00397629"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398868"	"00397630"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398869"	"00397631"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398870"	"00397632"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398871"	"00397633"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398872"	"00397634"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398873"	"00397635"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398874"	"00397636"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398875"	"00397637"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398876"	"00397638"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398877"	"00397639"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398878"	"00397640"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398879"	"00397641"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398880"	"00397642"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398881"	"00397643"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398882"	"00397644"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398883"	"00397645"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398884"	"00397646"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398885"	"00397647"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398886"	"00397648"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398887"	"00397649"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398888"	"00397650"	"1"	"00000"	"03840"	"2021-12-27 14:14:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398891"	"00397653"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398892"	"00397654"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398893"	"00397655"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398894"	"00397656"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398895"	"00397657"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398896"	"00397658"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398897"	"00397659"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398898"	"00397660"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398899"	"00397661"	"1"	"00000"	"03840"	"2021-12-27 16:15:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398901"	"00397664"	"1"	"00000"	"03840"	"2021-12-27 16:43:24"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398918"	"00397677"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398919"	"00397678"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398920"	"00397679"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398921"	"00397680"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398922"	"00397681"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398923"	"00397682"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398924"	"00397683"	"1"	"00000"	"03840"	"2021-12-28 11:44:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398925"	"00397684"	"1"	"00000"	"03840"	"2021-12-28 12:28:31"	""	""	"SEQ;FISH;arrayCGH"	"DNA"	"blood"	""
"0000398926"	"00397685"	"1"	"00000"	"03840"	"2021-12-28 12:47:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398927"	"00397686"	"1"	"00000"	"03840"	"2021-12-28 12:47:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398928"	"00397687"	"1"	"00000"	"03840"	"2021-12-28 12:47:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000398932"	"00397690"	"1"	"00000"	"03840"	"2021-12-28 18:38:20"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next generation sequenicng of 18 genes"
"0000399083"	"00397841"	"1"	"00000"	"03840"	"2021-12-29 12:58:54"	""	""	"?"	"DNA"	""	""
"0000399133"	"00397891"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399134"	"00397892"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399135"	"00397893"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399136"	"00397894"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399137"	"00397895"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399138"	"00397896"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399139"	"00397897"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399140"	"00397898"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399141"	"00397899"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399142"	"00397900"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399143"	"00397901"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399144"	"00397902"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399145"	"00397903"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399146"	"00397904"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399147"	"00397905"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399148"	"00397906"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399149"	"00397907"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399150"	"00397908"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399151"	"00397909"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399152"	"00397910"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399153"	"00397911"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399154"	"00397912"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399155"	"00397913"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399156"	"00397914"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399157"	"00397915"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399158"	"00397916"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399159"	"00397917"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399160"	"00397918"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399161"	"00397919"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399162"	"00397920"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399163"	"00397921"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399164"	"00397922"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399165"	"00397923"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399166"	"00397924"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399167"	"00397925"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399168"	"00397926"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399169"	"00397927"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399170"	"00397928"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399171"	"00397929"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399172"	"00397930"	"1"	"00000"	"03840"	"2021-12-29 16:21:33"	""	""	"?"	"DNA"	""	"retrospective study"
"0000399277"	"00398033"	"1"	"00000"	"03840"	"2021-12-30 13:34:03"	""	""	"?"	"DNA"	""	""
"0000399278"	"00398034"	"1"	"00000"	"03840"	"2021-12-30 13:34:03"	""	""	"?"	"DNA"	""	""
"0000399279"	"00398035"	"1"	"00000"	"03840"	"2021-12-30 13:34:03"	""	""	"?"	"DNA"	""	""
"0000399280"	"00398036"	"1"	"00000"	"03840"	"2021-12-30 13:34:03"	""	""	"?"	"DNA"	""	""
"0000399281"	"00398037"	"1"	"00000"	"03840"	"2021-12-30 13:34:03"	""	""	"?"	"DNA"	""	""
"0000399452"	"00398208"	"1"	"00000"	"03840"	"2021-12-31 20:44:11"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000399453"	"00398209"	"1"	"00000"	"03840"	"2021-12-31 20:44:11"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000399454"	"00398210"	"1"	"00000"	"03840"	"2021-12-31 20:44:11"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000399457"	"00398213"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399458"	"00398214"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399459"	"00398215"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399460"	"00398216"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399461"	"00398217"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399462"	"00398218"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399463"	"00398219"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399464"	"00398220"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399465"	"00398221"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399466"	"00398222"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399467"	"00398223"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399468"	"00398224"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399469"	"00398225"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399470"	"00398226"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399471"	"00398227"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399472"	"00398228"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399473"	"00398229"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399474"	"00398230"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399475"	"00398231"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399476"	"00398232"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399477"	"00398233"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399478"	"00398234"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399479"	"00398235"	"1"	"00000"	"03840"	"2022-01-01 19:27:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000399480"	"00398237"	"1"	"00000"	"03840"	"2022-01-02 10:34:47"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000403253"	"00402012"	"1"	"02473"	"02473"	"2022-02-04 11:59:05"	""	""	"PCR"	"DNA"	""	"whole exome and sanger verification"
"0000404158"	"00402917"	"1"	"00006"	"00006"	"2022-02-14 14:33:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000407650"	"00406408"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407651"	"00406409"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407652"	"00406410"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407653"	"00406411"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407654"	"00406412"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407655"	"00406413"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407656"	"00406414"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407657"	"00406415"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407658"	"00406416"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407659"	"00406417"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407660"	"00406418"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407661"	"00406419"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407662"	"00406420"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407663"	"00406421"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407664"	"00406422"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407665"	"00406423"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407666"	"00406424"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407667"	"00406425"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407668"	"00406426"	"1"	"00000"	"03840"	"2022-03-29 19:09:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407686"	"00406444"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407687"	"00406445"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407688"	"00406446"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407689"	"00406447"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407690"	"00406448"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407691"	"00406449"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000407692"	"00406450"	"1"	"00000"	"03840"	"2022-03-30 16:49:18"	""	""	"SSCA;PCR;DHPLC;SEQ"	"DNA"	"blood"	""
"0000408847"	"00407599"	"1"	"00000"	"03840"	"2022-04-06 20:53:36"	""	""	"?"	"DNA"	""	""
"0000408848"	"00407600"	"1"	"00000"	"03840"	"2022-04-06 20:53:36"	""	""	"?"	"DNA"	""	""
"0000408849"	"00407601"	"1"	"00000"	"03840"	"2022-04-06 20:53:36"	""	""	"?"	"DNA"	""	""
"0000408850"	"00407602"	"1"	"00000"	"03840"	"2022-04-06 20:53:36"	""	""	"?"	"DNA"	""	""
"0000408851"	"00407603"	"1"	"00000"	"03840"	"2022-04-06 20:53:36"	""	""	"?"	"DNA"	""	""
"0000408852"	"00407604"	"1"	"00000"	"03840"	"2022-04-06 20:53:36"	""	""	"?"	"DNA"	""	""
"0000408901"	"00407649"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000408916"	"00407664"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000409671"	"00408414"	"1"	"00000"	"03840"	"2022-04-21 15:58:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"targeted gene analysis or a next-generation sequencing-based gene panel"
"0000410064"	"00408799"	"1"	"00000"	"03840"	"2022-04-28 12:52:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000410073"	"00408808"	"1"	"00000"	"03840"	"2022-04-28 12:52:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000410074"	"00408809"	"1"	"00000"	"03840"	"2022-04-28 12:52:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000419975"	"00418680"	"1"	"00000"	"03840"	"2022-10-03 17:04:02"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"57 genes associated with Meckel-Gruber syndrome and neuronal migration disorders"
"0000421699"	"00420390"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421711"	"00420402"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421748"	"00420439"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421763"	"00420454"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421828"	"00420519"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421866"	"00420557"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421894"	"00420585"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000428247"	"00426927"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428248"	"00426928"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428262"	"00426942"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000430920"	"00429507"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000430964"	"00429551"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431025"	"00429612"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431093"	"00429680"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431144"	"00429731"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431247"	"00429834"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431324"	"00429911"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431362"	"00429949"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431403"	"00429990"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431444"	"00430031"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431460"	"00430047"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000438090"	"00436606"	"1"	"04552"	"04552"	"2023-09-23 05:11:54"	""	""	"SEQ-NG-I"	"DNA"	"Buccal swab"	""
"0000438222"	"00436736"	"1"	"04552"	"04552"	"2023-09-29 22:08:07"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000444973"	"00443481"	"1"	"00006"	"00006"	"2023-11-27 19:47:01"	""	""	"SEQ"	"DNA"	""	""
"0000444974"	"00443482"	"1"	"00006"	"00006"	"2023-11-27 19:53:55"	""	""	"SEQ"	"DNA"	""	""
"0000444975"	"00443483"	"1"	"00006"	"00006"	"2023-11-27 19:58:04"	""	""	"SEQ"	"DNA"	""	""
"0000444976"	"00443484"	"1"	"00006"	"00006"	"2023-11-27 21:34:32"	""	""	"SEQ"	"DNA"	""	""
"0000444977"	"00443485"	"1"	"00006"	"00006"	"2023-11-27 21:36:57"	""	""	"SEQ"	"DNA"	""	""
"0000444978"	"00443486"	"1"	"00006"	"00006"	"2023-11-27 21:50:24"	""	""	"SEQ"	"DNA"	""	""
"0000444979"	"00443487"	"1"	"00006"	"00006"	"2023-11-27 21:54:49"	""	""	"SEQ"	"DNA"	""	""
"0000445013"	"00443521"	"1"	"00006"	"00006"	"2023-11-28 17:20:46"	""	""	"SEQ"	"DNA"	""	""
"0000445014"	"00443522"	"1"	"00006"	"00006"	"2023-11-28 19:30:47"	""	""	"SEQ"	"DNA"	""	""
"0000448503"	"00446926"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448549"	"00446972"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448562"	"00446985"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448575"	"00446998"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448719"	"00447142"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448720"	"00447143"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448857"	"00447280"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449106"	"00447529"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449183"	"00447606"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449295"	"00447718"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000451576"	"00449980"	"1"	"02230"	"00006"	"2024-05-24 14:55:58"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"WGS"
"0000451577"	"00449981"	"1"	"02230"	"00006"	"2024-05-24 14:55:58"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"WGS"
"0000462667"	"00461035"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblasts"	"mRNA splicing analysis on tissue"
"0000462710"	"00461078"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000462756"	"00461124"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000463933"	"00462301"	"1"	"00006"	"00006"	"2025-02-09 09:45:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000466939"	"00465291"	"1"	"00006"	"00006"	"2025-05-06 16:22:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000468544"	"00466879"	"1"	"02473"	"02473"	"2025-09-30 08:53:33"	"00006"	"2025-10-07 16:27:19"	"RT-PCR;SEQ"	"DNA;RNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 899
"{{screeningid}}"	"{{geneid}}"
"0000000023"	"ALPL"
"0000000023"	"ATP7B"
"0000000023"	"CBS"
"0000000023"	"CEP290"
"0000000023"	"COL17A1"
"0000000023"	"CYP21A2"
"0000000023"	"DPYD"
"0000000023"	"GBA"
"0000000023"	"GLB1"
"0000000023"	"NHLRC1"
"0000000023"	"SERPINA1"
"0000000023"	"SLC26A2"
"0000000023"	"SLC3A1"
"0000000023"	"SMPD1"
"0000000087"	"AHI1"
"0000000087"	"ATP7B"
"0000000087"	"BTD"
"0000000087"	"CYP21A2"
"0000000087"	"ETFB"
"0000000087"	"FRAS1"
"0000000087"	"GLB1"
"0000000087"	"IGHMBP2"
"0000000087"	"NHLRC1"
"0000000087"	"SERPINA1"
"0000000087"	"SLC26A2"
"0000028950"	"C5orf42"
"0000028955"	"CEP290"
"0000033147"	"CEP290"
"0000033148"	"CEP290"
"0000033149"	"CEP290"
"0000033150"	"CEP290"
"0000033151"	"CEP290"
"0000033152"	"CEP290"
"0000033153"	"CEP290"
"0000033154"	"CEP290"
"0000033202"	"CEP290"
"0000033202"	"CRX"
"0000033202"	"RIMS1"
"0000033211"	"CEP290"
"0000033211"	"SEMA4A"
"0000033259"	"CEP290"
"0000033260"	"CEP290"
"0000033261"	"CEP290"
"0000033262"	"CEP290"
"0000033263"	"CEP290"
"0000033264"	"CEP290"
"0000033265"	"CEP290"
"0000033266"	"CEP290"
"0000033267"	"CEP290"
"0000033268"	"CEP290"
"0000033269"	"CEP290"
"0000033270"	"CEP290"
"0000033271"	"CEP290"
"0000033272"	"CEP290"
"0000033273"	"CEP290"
"0000033274"	"CEP290"
"0000033276"	"CEP290"
"0000033277"	"CEP290"
"0000033278"	"CEP290"
"0000033279"	"CEP290"
"0000033280"	"CEP290"
"0000033281"	"CEP290"
"0000033282"	"CEP290"
"0000033283"	"CEP290"
"0000033284"	"CEP290"
"0000033285"	"CEP290"
"0000033286"	"CEP290"
"0000033287"	"CEP290"
"0000033288"	"CEP290"
"0000033289"	"CEP290"
"0000033290"	"CEP290"
"0000033291"	"CEP290"
"0000033292"	"CEP290"
"0000033293"	"CEP290"
"0000033294"	"CEP290"
"0000033295"	"CEP290"
"0000033296"	"CEP290"
"0000033297"	"CEP290"
"0000033298"	"CEP290"
"0000033299"	"CEP290"
"0000033300"	"CEP290"
"0000033301"	"CEP290"
"0000033302"	"CEP290"
"0000033303"	"CEP290"
"0000033304"	"CEP290"
"0000033305"	"CEP290"
"0000033306"	"CEP290"
"0000033307"	"CEP290"
"0000033308"	"CEP290"
"0000033309"	"CEP290"
"0000033310"	"CEP290"
"0000033311"	"CEP290"
"0000033312"	"CEP290"
"0000033313"	"CEP290"
"0000033314"	"CEP290"
"0000033315"	"CEP290"
"0000033316"	"CEP290"
"0000033317"	"CEP290"
"0000033318"	"CEP290"
"0000033319"	"CEP290"
"0000033320"	"CEP290"
"0000033322"	"CEP290"
"0000033323"	"CEP290"
"0000033324"	"CEP290"
"0000033325"	"CEP290"
"0000033326"	"CEP290"
"0000033327"	"CEP290"
"0000033328"	"CEP290"
"0000033329"	"CEP290"
"0000033330"	"CEP290"
"0000033332"	"CEP290"
"0000033333"	"CEP290"
"0000033334"	"CEP290"
"0000033335"	"CEP290"
"0000033336"	"CEP290"
"0000033337"	"CEP290"
"0000033338"	"CEP290"
"0000033339"	"CEP290"
"0000033340"	"CEP290"
"0000033341"	"CEP290"
"0000033342"	"CEP290"
"0000033343"	"CEP290"
"0000033344"	"CEP290"
"0000033345"	"CEP290"
"0000033346"	"CEP290"
"0000033347"	"CEP290"
"0000033348"	"CEP290"
"0000033349"	"CEP290"
"0000033350"	"CEP290"
"0000033351"	"CEP290"
"0000033352"	"CEP290"
"0000033353"	"CEP290"
"0000033354"	"CEP290"
"0000033355"	"CEP290"
"0000033356"	"CEP290"
"0000033357"	"CEP290"
"0000033358"	"CEP290"
"0000033359"	"CEP290"
"0000033360"	"CEP290"
"0000033361"	"CEP290"
"0000033362"	"CEP290"
"0000033363"	"CEP290"
"0000033364"	"CEP290"
"0000033365"	"CEP290"
"0000033366"	"CEP290"
"0000033367"	"CEP290"
"0000033368"	"CEP290"
"0000033369"	"CEP290"
"0000033370"	"CEP290"
"0000033371"	"CEP290"
"0000033372"	"CEP290"
"0000033373"	"CEP290"
"0000033374"	"CEP290"
"0000033375"	"CEP290"
"0000033376"	"CEP290"
"0000033377"	"CEP290"
"0000033378"	"CEP290"
"0000033379"	"CEP290"
"0000033380"	"CEP290"
"0000033381"	"CEP290"
"0000033383"	"CEP290"
"0000033384"	"CEP290"
"0000033385"	"CEP290"
"0000033386"	"CEP290"
"0000033387"	"CEP290"
"0000033388"	"CEP290"
"0000033389"	"CEP290"
"0000033390"	"CEP290"
"0000033391"	"CEP290"
"0000033392"	"CEP290"
"0000033393"	"CEP290"
"0000033394"	"CEP290"
"0000033395"	"CEP290"
"0000033396"	"CEP290"
"0000033397"	"CEP290"
"0000033398"	"CEP290"
"0000033399"	"CEP290"
"0000033400"	"CEP290"
"0000033401"	"CEP290"
"0000033402"	"CEP290"
"0000033403"	"CEP290"
"0000033404"	"CEP290"
"0000050602"	"CEP290"
"0000080990"	"CEP290"
"0000100497"	"CEP290"
"0000117838"	"CEP290"
"0000117839"	"CEP290"
"0000156272"	"CEP290"
"0000156273"	"CEP290"
"0000156274"	"CEP290"
"0000156275"	"CEP290"
"0000174721"	"MERTK"
"0000241537"	"CEP290"
"0000270922"	"CEP290"
"0000270923"	"CEP290"
"0000270924"	"CEP290"
"0000270925"	"CEP290"
"0000270927"	"CEP290"
"0000270929"	"CEP290"
"0000270930"	"CEP290"
"0000301719"	"CEP290"
"0000309637"	"CEP290"
"0000309638"	"CEP290"
"0000310173"	"CEP290"
"0000310174"	"CEP290"
"0000310175"	"CEP290"
"0000310176"	"CEP290"
"0000316660"	"CEP290"
"0000326702"	"CEP290"
"0000329137"	"CEP290"
"0000329242"	"CEP290"
"0000329245"	"CEP290"
"0000332572"	"CEP290"
"0000332573"	"CEP290"
"0000332574"	"CEP290"
"0000332575"	"CEP290"
"0000332576"	"CEP290"
"0000332577"	"CEP290"
"0000332954"	"CEP290"
"0000333485"	"CEP290"
"0000333493"	"CEP290"
"0000333495"	"CEP290"
"0000333570"	"CEP290"
"0000333571"	"CEP290"
"0000333572"	"CEP290"
"0000333573"	"CEP290"
"0000333574"	"CEP290"
"0000333614"	"CEP290"
"0000333615"	"CEP290"
"0000333684"	"CEP290"
"0000333688"	"CEP290"
"0000333697"	"CEP290"
"0000333698"	"CEP290"
"0000333699"	"CEP290"
"0000334578"	"ROM1"
"0000334585"	"NR2E3"
"0000334686"	"CEP290"
"0000334687"	"CEP290"
"0000334697"	"CEP290"
"0000335038"	"CEP290"
"0000335039"	"CEP290"
"0000335121"	"CEP290"
"0000335122"	"CEP290"
"0000335158"	"CEP290"
"0000335159"	"CEP290"
"0000335160"	"CEP290"
"0000335161"	"CEP290"
"0000335162"	"CEP290"
"0000335163"	"CEP290"
"0000335168"	"CEP290"
"0000335169"	"CEP290"
"0000335170"	"CEP290"
"0000335171"	"CEP290"
"0000335192"	"CEP290"
"0000335193"	"CEP290"
"0000335194"	"CEP290"
"0000335325"	"CEP290"
"0000336325"	"CEP290"
"0000336326"	"CEP290"
"0000336473"	"CEP290"
"0000336490"	"CEP290"
"0000336491"	"CEP290"
"0000336492"	"CEP290"
"0000336493"	"CEP290"
"0000336562"	"CEP290"
"0000336563"	"CEP290"
"0000336673"	"CEP290"
"0000336707"	"CEP290"
"0000336708"	"CEP290"
"0000336709"	"CEP290"
"0000336764"	"CEP290"
"0000336766"	"CEP290"
"0000360047"	"BBS7"
"0000360047"	"CEP290"
"0000360047"	"NPHP1"
"0000360077"	"CEP290"
"0000360079"	"CEP290"
"0000360080"	"CEP290"
"0000360083"	"CEP290"
"0000360084"	"CEP290"
"0000360087"	"CEP290"
"0000360097"	"CEP290"
"0000360102"	"CEP290"
"0000360126"	"CEP290"
"0000360127"	"CEP290"
"0000360128"	"CEP290"
"0000360129"	"CEP290"
"0000360130"	"CEP290"
"0000360569"	"CEP290"
"0000363316"	"CEP290"
"0000364162"	"CEP290"
"0000364167"	"CEP290"
"0000364624"	"CEP290"
"0000364679"	"CEP290"
"0000364790"	"CEP290"
"0000364791"	"CEP290"
"0000364851"	"CEP290"
"0000373289"	"CEP290"
"0000373452"	"CEP290"
"0000373453"	"CEP290"
"0000373454"	"CEP290"
"0000373455"	"CEP290"
"0000373456"	"CEP290"
"0000373457"	"CEP290"
"0000373458"	"CEP290"
"0000373459"	"CEP290"
"0000373460"	"CEP290"
"0000373461"	"CEP290"
"0000373462"	"CEP290"
"0000373463"	"CEP290"
"0000373464"	"CEP290"
"0000373465"	"CEP290"
"0000373466"	"CEP290"
"0000373467"	"CEP290"
"0000373468"	"CEP290"
"0000373469"	"CEP290"
"0000373470"	"CEP290"
"0000373471"	"CEP290"
"0000373472"	"CEP290"
"0000373473"	"CEP290"
"0000373474"	"CEP290"
"0000373475"	"CEP290"
"0000373476"	"CEP290"
"0000373477"	"CEP290"
"0000373478"	"CEP290"
"0000373479"	"CEP290"
"0000373480"	"CEP290"
"0000373481"	"CEP290"
"0000373482"	"CEP290"
"0000373483"	"CEP290"
"0000373605"	"CEP290"
"0000373606"	"CEP290"
"0000373638"	"CEP290"
"0000373653"	"CEP290"
"0000373654"	"CEP290"
"0000373655"	"CEP290"
"0000373656"	"CEP290"
"0000373657"	"CEP290"
"0000373658"	"CEP290"
"0000373693"	"CEP290"
"0000373694"	"CEP290"
"0000374616"	"CEP290"
"0000374623"	"CEP290"
"0000374625"	"CEP290"
"0000374985"	"AHI1"
"0000374985"	"CEP290"
"0000374985"	"NPHP1"
"0000374986"	"AHI1"
"0000374986"	"CEP290"
"0000374986"	"NPHP1"
"0000374987"	"AHI1"
"0000374987"	"CEP290"
"0000374987"	"NPHP1"
"0000374988"	"AHI1"
"0000374988"	"CEP290"
"0000374988"	"NPHP1"
"0000374989"	"AHI1"
"0000374989"	"CEP290"
"0000374989"	"NPHP1"
"0000374990"	"AHI1"
"0000374990"	"CEP290"
"0000374990"	"NPHP1"
"0000374991"	"AHI1"
"0000374991"	"CEP290"
"0000374991"	"NPHP1"
"0000374992"	"AHI1"
"0000374992"	"CEP290"
"0000374992"	"NPHP1"
"0000374993"	"AHI1"
"0000374993"	"CEP290"
"0000374993"	"NPHP1"
"0000374996"	"AHI1"
"0000374996"	"CEP290"
"0000374996"	"NPHP1"
"0000374997"	"AHI1"
"0000374997"	"CEP290"
"0000374997"	"NPHP1"
"0000374999"	"AHI1"
"0000374999"	"CEP290"
"0000374999"	"NPHP1"
"0000375006"	"NPHP1"
"0000375007"	"NPHP1"
"0000375009"	"CEP290"
"0000375011"	"CEP290"
"0000375012"	"CEP290"
"0000375013"	"CEP290"
"0000375014"	"CEP290"
"0000375016"	"CEP290"
"0000375018"	"CEP290"
"0000375128"	"CEP290"
"0000375188"	"CEP290"
"0000375434"	"CEP290"
"0000375435"	"CEP290"
"0000375436"	"CEP290"
"0000375437"	"CEP290"
"0000375438"	"CEP290"
"0000375879"	"CEP290"
"0000375880"	"CEP290"
"0000375881"	"CEP290"
"0000377483"	"CEP290"
"0000378370"	"CEP290"
"0000378405"	"CEP290"
"0000378410"	"CEP290"
"0000378418"	"CEP290"
"0000378422"	"CEP290"
"0000378851"	"CEP290"
"0000378852"	"CEP290"
"0000378853"	"CEP290"
"0000378854"	"CEP290"
"0000378855"	"CEP290"
"0000378856"	"CEP290"
"0000378857"	"CEP290"
"0000378899"	"B9D1"
"0000378955"	"CEP290"
"0000378956"	"CEP290"
"0000378957"	"CEP290"
"0000378958"	"CEP290"
"0000378959"	"CEP290"
"0000378960"	"CEP290"
"0000378961"	"CEP290"
"0000378962"	"CEP290"
"0000378963"	"CEP290"
"0000378986"	"CEP290"
"0000379090"	"CEP290"
"0000379102"	"CEP290"
"0000379112"	"CEP290"
"0000379122"	"CEP290"
"0000380784"	"CEP290"
"0000380792"	"CEP290"
"0000380793"	"CEP290"
"0000380820"	"CEP290"
"0000380821"	"CEP290"
"0000380916"	"SLC39A5"
"0000382239"	"CEP290"
"0000382240"	"CEP290"
"0000382241"	"CEP290"
"0000382253"	"C2orf71"
"0000382254"	"CEP290"
"0000382259"	"RP1"
"0000382398"	"CEP290"
"0000382399"	"CEP290"
"0000382400"	"CEP290"
"0000382401"	"CEP290"
"0000382416"	"CEP290"
"0000382417"	"CEP290"
"0000382418"	"CEP290"
"0000382419"	"CEP290"
"0000382420"	"CEP290"
"0000382421"	"CEP290"
"0000382422"	"CEP290"
"0000382812"	"CEP290"
"0000382855"	"CEP290"
"0000382864"	"ABCA4"
"0000382905"	"CEP290"
"0000382909"	"CEP290"
"0000383102"	"CEP290"
"0000383461"	"CEP290"
"0000383462"	"CEP290"
"0000383727"	"CEP290"
"0000383728"	"CEP290"
"0000383729"	"CEP290"
"0000383730"	"CEP290"
"0000383866"	"CEP290"
"0000383871"	"CEP290"
"0000383872"	"CEP290"
"0000384060"	"CEP290"
"0000384431"	"CEP290"
"0000384431"	"MKS1"
"0000384431"	"TMEM67"
"0000384886"	"BBS1"
"0000385017"	"CEP290"
"0000385324"	"USH2A"
"0000385332"	"NR2E3"
"0000385443"	"CEP290"
"0000385510"	"CEP290"
"0000385574"	"CEP290"
"0000385629"	"CEP290"
"0000386029"	"BBS1"
"0000386038"	"BBS4"
"0000386045"	"BBS4"
"0000386218"	"CEP290"
"0000386267"	"CEP290"
"0000386273"	"CEP290"
"0000386287"	"CEP290"
"0000386294"	"CEP290"
"0000386295"	"CEP290"
"0000386297"	"CEP290"
"0000386298"	"CEP290"
"0000386386"	"CEP290"
"0000386387"	"CEP290"
"0000386389"	"CEP290"
"0000386462"	"BBS10"
"0000387408"	"ABCA4"
"0000387430"	"ABCA4"
"0000387441"	"CNGB3"
"0000387465"	"CEP290"
"0000387529"	"CACNA2D4"
"0000387791"	"CEP290"
"0000387800"	"CEP290"
"0000387808"	"CEP290"
"0000388021"	"CEP290"
"0000388097"	"CEP290"
"0000388637"	"CEP290"
"0000388638"	"CEP290"
"0000388639"	"CEP290"
"0000388640"	"CEP290"
"0000388641"	"CEP290"
"0000388642"	"CEP290"
"0000388643"	"CEP290"
"0000388644"	"CEP290"
"0000388645"	"CEP290"
"0000388646"	"CEP290"
"0000388647"	"CEP290"
"0000388648"	"CEP290"
"0000388649"	"CEP290"
"0000388650"	"CEP290"
"0000388759"	"CEP290"
"0000388761"	"CEP290"
"0000388762"	"CEP290"
"0000388763"	"CEP290"
"0000388829"	"CEP290"
"0000389305"	"CEP290"
"0000389318"	"CEP290"
"0000389326"	"CEP290"
"0000389331"	"CEP290"
"0000389338"	"CEP290"
"0000389364"	"CEP290"
"0000389386"	"CEP290"
"0000389387"	"CEP290"
"0000389388"	"CEP290"
"0000389389"	"CEP290"
"0000389390"	"CEP290"
"0000389391"	"CEP290"
"0000389420"	"CEP290"
"0000389421"	"CEP290"
"0000389820"	"CEP290"
"0000390101"	"CEP290"
"0000390102"	"CEP290"
"0000390106"	"CEP290"
"0000390139"	"CEP290"
"0000390195"	"CEP290"
"0000390196"	"CEP290"
"0000390216"	"CEP290"
"0000390256"	"CEP290"
"0000390277"	"CEP290"
"0000390284"	"CEP290"
"0000390397"	"CEP290"
"0000390398"	"CEP290"
"0000390433"	"CEP290"
"0000390840"	"CEP290"
"0000391004"	"CEP290"
"0000391005"	"CEP290"
"0000391072"	"CEP290"
"0000391110"	"CEP290"
"0000391166"	"CEP290"
"0000391212"	"CEP290"
"0000391267"	"KCNJ13"
"0000391268"	"CEP290"
"0000391447"	"CEP290"
"0000391448"	"CEP290"
"0000392003"	"CEP290"
"0000392010"	"CEP290"
"0000392104"	"CEP290"
"0000392798"	"CEP290"
"0000392799"	"CEP290"
"0000392843"	"CEP290"
"0000392844"	"CEP290"
"0000392845"	"CEP290"
"0000392846"	"CEP290"
"0000392847"	"CEP290"
"0000392848"	"CEP290"
"0000392849"	"CEP290"
"0000392850"	"CEP290"
"0000392851"	"CEP290"
"0000392852"	"CEP290"
"0000392853"	"CEP290"
"0000392854"	"CEP290"
"0000392855"	"CEP290"
"0000392856"	"CEP290"
"0000392857"	"CEP290"
"0000392858"	"CEP290"
"0000392859"	"CEP290"
"0000392860"	"CEP290"
"0000392861"	"CEP290"
"0000392862"	"CEP290"
"0000392863"	"CEP290"
"0000392864"	"CEP290"
"0000392865"	"CEP290"
"0000392866"	"CEP290"
"0000392867"	"CEP290"
"0000392961"	"CEP290"
"0000392988"	"CEP290"
"0000392989"	"CEP290"
"0000392990"	"CEP290"
"0000392991"	"CEP290"
"0000393996"	"MKKS"
"0000394956"	"CEP290"
"0000395059"	"CEP290"
"0000395616"	"CEP290"
"0000395792"	"CEP290"
"0000395793"	"CEP290"
"0000397010"	"CEP290"
"0000397046"	"CEP290"
"0000397066"	"CEP290"
"0000397067"	"CEP290"
"0000397068"	"CEP290"
"0000397086"	"CEP290"
"0000397151"	"CEP290"
"0000397449"	"CEP290"
"0000397450"	"CEP290"
"0000397451"	"CEP290"
"0000397452"	"CEP290"
"0000397453"	"CEP290"
"0000397459"	"CEP290"
"0000397464"	"CEP290"
"0000397467"	"NMNAT1"
"0000397469"	"CEP290"
"0000398665"	"CEP290"
"0000398666"	"CEP290"
"0000398667"	"CEP290"
"0000398668"	"CEP290"
"0000398669"	"CEP290"
"0000398670"	"CEP290"
"0000398671"	"CEP290"
"0000398672"	"CEP290"
"0000398674"	"CEP290"
"0000398675"	"CEP290"
"0000398676"	"CEP290"
"0000398677"	"CEP290"
"0000398678"	"CEP290"
"0000398679"	"CEP290"
"0000398680"	"CEP290"
"0000398681"	"CEP290"
"0000398682"	"CEP290"
"0000398683"	"CEP290"
"0000398684"	"CEP290"
"0000398685"	"CEP290"
"0000398709"	"CEP290"
"0000398710"	"CEP290"
"0000398711"	"CEP290"
"0000398712"	"CEP290"
"0000398713"	"CEP290"
"0000398714"	"CEP290"
"0000398715"	"CEP290"
"0000398716"	"CEP290"
"0000398717"	"CEP290"
"0000398718"	"CEP290"
"0000398719"	"CEP290"
"0000398720"	"CEP290"
"0000398721"	"CEP290"
"0000398722"	"CEP290"
"0000398723"	"CEP290"
"0000398724"	"CEP290"
"0000398725"	"CEP290"
"0000398726"	"CEP290"
"0000398727"	"CEP290"
"0000398728"	"CEP290"
"0000398769"	"CEP290"
"0000398770"	"CEP290"
"0000398771"	"CEP290"
"0000398772"	"CEP290"
"0000398773"	"CEP290"
"0000398774"	"CEP290"
"0000398775"	"CEP290"
"0000398776"	"CEP290"
"0000398777"	"CEP290"
"0000398778"	"CEP290"
"0000398779"	"CEP290"
"0000398780"	"CEP290"
"0000398781"	"CEP290"
"0000398782"	"CEP290"
"0000398783"	"CEP290"
"0000398784"	"CEP290"
"0000398785"	"CEP290"
"0000398786"	"CEP290"
"0000398787"	"CEP290"
"0000398788"	"CEP290"
"0000398789"	"CEP290"
"0000398790"	"CEP290"
"0000398791"	"CEP290"
"0000398792"	"CEP290"
"0000398793"	"CEP290"
"0000398794"	"CEP290"
"0000398795"	"CEP290"
"0000398796"	"CEP290"
"0000398797"	"CEP290"
"0000398798"	"CEP290"
"0000398799"	"CEP290"
"0000398800"	"CEP290"
"0000398801"	"CEP290"
"0000398802"	"CEP290"
"0000398803"	"CEP290"
"0000398804"	"CEP290"
"0000398805"	"CEP290"
"0000398806"	"CEP290"
"0000398807"	"CEP290"
"0000398808"	"CEP290"
"0000398819"	"CEP290"
"0000398820"	"CEP290"
"0000398821"	"CEP290"
"0000398822"	"CEP290"
"0000398823"	"CEP290"
"0000398824"	"CEP290"
"0000398825"	"CEP290"
"0000398826"	"CEP290"
"0000398864"	"CEP290"
"0000398865"	"CEP290"
"0000398866"	"CEP290"
"0000398867"	"CEP290"
"0000398868"	"CEP290"
"0000398869"	"CEP290"
"0000398870"	"CEP290"
"0000398871"	"CEP290"
"0000398872"	"CEP290"
"0000398873"	"CEP290"
"0000398874"	"CEP290"
"0000398875"	"CEP290"
"0000398876"	"CEP290"
"0000398877"	"CEP290"
"0000398878"	"CEP290"
"0000398879"	"CEP290"
"0000398880"	"CEP290"
"0000398881"	"CEP290"
"0000398882"	"CEP290"
"0000398883"	"CEP290"
"0000398884"	"CEP290"
"0000398885"	"CEP290"
"0000398886"	"CEP290"
"0000398887"	"CEP290"
"0000398888"	"CEP290"
"0000398891"	"CEP290"
"0000398892"	"CEP290"
"0000398893"	"CEP290"
"0000398894"	"CEP290"
"0000398895"	"CEP290"
"0000398896"	"CEP290"
"0000398897"	"CEP290"
"0000398898"	"CEP290"
"0000398899"	"CEP290"
"0000398901"	"CEP290"
"0000398918"	"CEP290"
"0000398919"	"CEP290"
"0000398920"	"CEP290"
"0000398921"	"CEP290"
"0000398922"	"CEP290"
"0000398923"	"CEP290"
"0000398924"	"CEP290"
"0000398925"	"CEP290"
"0000398926"	"CEP290"
"0000398927"	"CEP290"
"0000398928"	"CEP290"
"0000398932"	"CEP290"
"0000399083"	"CEP290"
"0000399133"	"CEP290"
"0000399134"	"CEP290"
"0000399135"	"CEP290"
"0000399136"	"CEP290"
"0000399137"	"CEP290"
"0000399138"	"CEP290"
"0000399139"	"CEP290"
"0000399140"	"CEP290"
"0000399141"	"CEP290"
"0000399142"	"CEP290"
"0000399143"	"CEP290"
"0000399144"	"CEP290"
"0000399145"	"CEP290"
"0000399146"	"CEP290"
"0000399147"	"CEP290"
"0000399148"	"CEP290"
"0000399149"	"CEP290"
"0000399150"	"CEP290"
"0000399151"	"CEP290"
"0000399152"	"CEP290"
"0000399153"	"CEP290"
"0000399154"	"CEP290"
"0000399155"	"CEP290"
"0000399156"	"CEP290"
"0000399157"	"CEP290"
"0000399158"	"CEP290"
"0000399159"	"CEP290"
"0000399160"	"CEP290"
"0000399161"	"CEP290"
"0000399162"	"CEP290"
"0000399163"	"CEP290"
"0000399164"	"CEP290"
"0000399165"	"CEP290"
"0000399166"	"CEP290"
"0000399167"	"CEP290"
"0000399168"	"CEP290"
"0000399169"	"CEP290"
"0000399170"	"CEP290"
"0000399171"	"CEP290"
"0000399172"	"CEP290"
"0000399277"	"CEP290"
"0000399278"	"CEP290"
"0000399279"	"CEP290"
"0000399280"	"CEP290"
"0000399281"	"CEP290"
"0000399452"	"CEP290"
"0000399453"	"CEP290"
"0000399454"	"CEP290"
"0000399457"	"CEP290"
"0000399458"	"CEP290"
"0000399459"	"CEP290"
"0000399460"	"CEP290"
"0000399461"	"CEP290"
"0000399462"	"CEP290"
"0000399463"	"CEP290"
"0000399464"	"CEP290"
"0000399465"	"CEP290"
"0000399466"	"CEP290"
"0000399467"	"CEP290"
"0000399468"	"CEP290"
"0000399469"	"CEP290"
"0000399470"	"CEP290"
"0000399471"	"CEP290"
"0000399472"	"CEP290"
"0000399473"	"CEP290"
"0000399474"	"CEP290"
"0000399475"	"CEP290"
"0000399476"	"CEP290"
"0000399477"	"CEP290"
"0000399478"	"CEP290"
"0000399479"	"CEP290"
"0000399480"	"CEP290"
"0000403253"	"CEP290"
"0000407650"	"CEP290"
"0000407651"	"CEP290"
"0000407652"	"CEP290"
"0000407653"	"CEP290"
"0000407654"	"CEP290"
"0000407655"	"CEP290"
"0000407656"	"CEP290"
"0000407657"	"CEP290"
"0000407658"	"CEP290"
"0000407659"	"CEP290"
"0000407660"	"CEP290"
"0000407661"	"CEP290"
"0000407662"	"CEP290"
"0000407663"	"CEP290"
"0000407664"	"CEP290"
"0000407665"	"CEP290"
"0000407666"	"CEP290"
"0000407667"	"CEP290"
"0000407668"	"CEP290"
"0000407686"	"CEP290"
"0000407687"	"CEP290"
"0000407688"	"CEP290"
"0000407689"	"CEP290"
"0000407690"	"CEP290"
"0000407691"	"CEP290"
"0000407692"	"CEP290"
"0000408847"	"CEP290"
"0000408848"	"CEP290"
"0000408849"	"CEP290"
"0000408850"	"CEP290"
"0000408851"	"CEP290"
"0000408852"	"CEP290"
"0000408901"	"CEP290"
"0000408916"	"CEP290"
"0000409671"	"CEP290"
"0000410064"	"CEP290"
"0000410073"	"CEP290"
"0000410074"	"CEP290"
"0000419975"	"MKKS"
"0000421699"	"CEP290"
"0000421711"	"CEP290"
"0000421748"	"CEP290"
"0000421763"	"CEP290"
"0000421828"	"CEP290"
"0000421866"	"CEP290"
"0000421894"	"CEP290"
"0000428247"	"CEP290"
"0000428248"	"CEP290"
"0000428262"	"IMPDH1"
"0000430920"	"CEP290"
"0000430964"	"CEP290"
"0000431025"	"CEP290"
"0000431093"	"CEP290"
"0000431144"	"CEP290"
"0000431247"	"CEP290"
"0000431324"	"CEP290"
"0000431362"	"CEP290"
"0000431403"	"CEP290"
"0000431444"	"CEP290"
"0000431460"	"CEP290"
"0000438090"	"CEP290"
"0000438222"	"CEP290"
"0000444973"	"CEP290"
"0000444974"	"CEP290"
"0000444975"	"CEP290"
"0000444976"	"CEP290"
"0000444977"	"CEP290"
"0000444978"	"CEP290"
"0000444979"	"CEP290"
"0000445013"	"CEP290"
"0000445014"	"CEP290"
"0000462667"	"CEP290"
"0000468544"	"CEP290"


## 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 = 1834
"{{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}}"
"0000000272"	"0"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"00002"	"CEP290_000144"	"g.88512314del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"likely pathogenic"	""
"0000016604"	"0"	"70"	"12"	"88534731"	"88534731"	"subst"	"0"	"00015"	"CEP290_000131"	"g.88534731A>T"	""	""	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.88140954A>T"	""	"likely pathogenic (recessive)"	""
"0000016605"	"0"	"99"	"12"	"88532930"	"88532930"	"subst"	"0"	"00015"	"CEP290_000142"	"g.88532930C>A"	""	"{PMID:Tallila 2008:19466712}"	""	"p.Glu97X"	"1 European MKS4 family (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.88139153C>A"	""	"pathogenic"	""
"0000016606"	"0"	"99"	"12"	"88530479"	"88530480"	"delins"	"0"	"00015"	"CEP290_000017"	"g.88530479_88530480delinsA"	""	"{PMID:Baala 2007:17564974}"	""	"p.Lys127AsnfsX36"	"1 MKS4 family of undetermined ethnicity (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.88136702_88136703delinsA"	""	"pathogenic"	""
"0000016607"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00015"	"CEP290_000019"	"g.88530477_88530480del"	""	""	""	"384_387delTAGA"	""	"SUMMARY record"	""	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic (recessive)"	""
"0000016608"	"0"	"90"	"12"	"88524101"	"88524101"	"subst"	"4.16053E-6"	"00015"	"CEP290_000020"	"g.88524101G>A"	""	""	""	"Arg205X"	""	"SUMMARY record"	""	"rs137852835"	"0"	""	""	"g.88130324G>A"	""	"pathogenic (recessive)"	""
"0000016609"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00015"	"CEP290_000026"	"g.88514915_88514916del"	""	""	""	"1219_1220delAT (Met407GlufsX14)"	"{CEP290:32}"	"SUMMARY record"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic (recessive)"	""
"0000016610"	"0"	"99"	"12"	"88513964"	"88513964"	"del"	"0"	"00015"	"CEP290_000143"	"g.88513964del"	"295/18699 CON"	"{PMID:Otto 2011:21068128}"	""	"p.K484fsX8"	"1 British MKS4 family (het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.88120187del"	""	"pathogenic"	""
"0000016611"	"0"	"90"	"12"	"88508924"	"88508925"	"del"	"0"	"00015"	"CEP290_000035"	"g.88508924_88508925del"	""	""	""	"1860_1861delAA (Glu620GlufsX7)"	"{CEP290:83}"	"SUMMARY record"	""	""	"0"	""	""	"g.88115147_88115148del"	""	"pathogenic (recessive)"	""
"0000016612"	"0"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00015"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Travaglini et al. 2009:19764032}"	""	"1984C>T (Q662X)"	"1 European MKS4 patient (com-het) and 1 French MKS4 patient (05/158; het) reported as MKS in Travaglini  2009 and \"Meckel-like\" in Baala et. al 2007 {CEP290:89}"	"SUMMARY record"	""	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic (recessive)"	""
"0000016613"	"3"	"90"	"12"	"88487688"	"88487688"	"del"	"0"	"00015"	"CEP290_000053"	"g.88487688del"	""	""	""	"3175delA Ile1059X"	""	"SUMMARY record"	""	""	"0"	""	""	"g.88093911del"	""	"pathogenic"	""
"0000016614"	"0"	"90"	"12"	"88486474"	"88486475"	"del"	"0"	"00015"	"CEP290_000146"	"g.88486474_88486475del"	""	""	""	"446_3447delAA (Lys1149fs)"	""	"SUMMARY record"	""	""	"0"	""	""	"g.88092697_88092698del"	""	"pathogenic (recessive)"	""
"0000016615"	"0"	"90"	"12"	"88481636"	"88481637"	"del"	"0"	"00015"	"CEP290_000065"	"g.88481636_88481637del"	""	""	""	"4115_4116delTA (Ile1372LysfsX5)"	"{CEP290:140}"	"SUMMARY record"	""	"rs62640582"	"0"	""	""	"g.88087859_88087860del"	""	"pathogenic (recessive)"	""
"0000016616"	"0"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"00015"	"CEP290_000087"	"g.88471571del"	""	""	""	"5489delA"	""	"SUMMARY record"	""	""	"0"	""	""	"g.88077794del"	""	"pathogenic (recessive)"	""
"0000016617"	"0"	"90"	"12"	"88465567"	"88465567"	"del"	"0"	"00015"	"CEP290_000092"	"g.88465567del"	""	""	""	"5850delT (Phe1950fs)"	"{CEP290:40}"	"SUMMARY record"	""	""	"0"	""	""	"g.88071790del"	""	"pathogenic (recessive)"	""
"0000052263"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"01188"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	"rs137852834"	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000052395"	"2"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"01188"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	"rs6264057"	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000059618"	"1"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"00006"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Littink Karin 2010:20130272}"	""	""	"copied from {CEP290:227}"	"Germline"	""	""	"0"	""	""	"g.88131209G>A"	""	"pathogenic"	""
"0000059619"	"1"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"00006"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Littink Karin 2010:20130272}"	""	""	"copied from {CEP290:227}"	"Germline"	""	""	"0"	""	""	"g.88131209G>A"	""	"pathogenic"	""
"0000059620"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Littink Karin 2010:20130272}"	""	""	"copied from {CEP290:15}"	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000059621"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Littink Karin 2010:20130272}"	""	""	"copied from {CEP290:15}"	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000059622"	"1"	"90"	"12"	"88535083"	"88535083"	"subst"	"4.11353E-6"	"00006"	"CEP290_000003"	"g.88535083A>T"	""	"{PMID:Perrault 2007:17345604}"	""	""	"copied from {CEP290:34}"	"Germline"	""	""	"0"	""	""	"g.88141306A>T"	""	"pathogenic"	""
"0000059623"	"1"	"90"	"12"	"88535083"	"88535083"	"subst"	"4.11353E-6"	"00006"	"CEP290_000003"	"g.88535083A>T"	""	"{PMID:Perrault 2007:17345604}"	""	""	"copied from {CEP290:34}"	"Germline"	""	""	"0"	""	""	"g.88141306A>T"	""	"pathogenic"	""
"0000059624"	"2"	"90"	"12"	"88512450"	"88512450"	"subst"	"8.13319E-6"	"00006"	"CEP290_000004"	"g.88512450G>T"	""	"{PMID:Perrault 2007:17345604}"	""	""	"copied from {CEP290:33}"	"Germline"	""	""	"0"	""	""	"g.88118673G>T"	""	"pathogenic"	""
"0000059625"	"1"	"90"	"12"	"88512450"	"88512450"	"subst"	"8.13319E-6"	"00006"	"CEP290_000004"	"g.88512450G>T"	""	"{PMID:Perrault 2007:17345604}"	""	""	"copied from {CEP290:33}"	"Germline"	""	""	"0"	""	""	"g.88118673G>T"	""	"pathogenic"	""
"0000059626"	"1"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"00006"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Valente 2006:16682970}, {OMIM610142:0003}"	""	""	"copied from {CEP290:5}"	"Germline"	""	"rs62635288"	"0"	""	""	"g.88141287C>A"	""	"pathogenic"	""
"0000059627"	"2"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"00006"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Valente 2006:16682970}, {OMIM610142:0003}"	""	""	"copied from {CEP290:5}"	"Germline"	""	"rs62635288"	"0"	""	""	"g.88141287C>A"	""	"pathogenic"	""
"0000059628"	"1"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"00006"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Valente 2006:16682970}"	""	""	"copied from {CEP290:5}"	"Germline"	""	"rs62635288"	"0"	""	""	"g.88141287C>A"	""	"pathogenic"	""
"0000059629"	"1"	"10"	"12"	"88508976"	"88508977"	"del"	"0"	"00229"	"CEP290_000006"	"g.88508976_88508977del"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	""	""	"0"	""	""	"g.88115199_88115200del"	""	"benign"	""
"0000059630"	"2"	"70"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"00229"	"CEP290_000007"	"g.88508258T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	""	""	"0"	""	""	"g.88114481T>C"	""	"likely pathogenic"	""
"0000059631"	"0"	"50"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"00006"	"CEP290_000007"	"g.88508258T>C"	""	""	""	""	"copied from {CEP290:96}"	"Germline"	""	""	"0"	""	""	"g.88114481T>C"	""	"VUS"	""
"0000059632"	"1"	"90"	"12"	"88484519"	"88484519"	"del"	"0"	"00229"	"CEP290_000008"	"g.88484519del"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88090742del"	""	"pathogenic"	""
"0000059633"	"2"	"90"	"12"	"88477732"	"88477732"	"subst"	"3.49078E-5"	"00229"	"CEP290_000009"	"g.88477732C>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88083955C>A"	""	"pathogenic"	""
"0000059634"	"0"	"90"	"12"	"88535084"	"88535084"	"subst"	"0"	"00006"	"CEP290_000010"	"g.88535084T>C"	""	""	""	""	"copied from {CEP290:91}"	"Germline"	""	""	"0"	""	""	"g.88141307T>C"	""	"pathogenic"	""
"0000059635"	"0"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"00006"	"CEP290_000011"	"g.88535064C>A"	""	"{OMIM610142:0003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88141287C>A"	""	"pathogenic"	""
"0000059636"	"0"	"90"	"12"	"88534747"	"88534750"	"del"	"0"	"00006"	"CEP290_000012"	"g.88534747_88534750del"	""	""	""	""	"copied from {CEP290:93}"	"Germline"	""	""	"0"	""	""	"g.88140970_88140973del"	""	"pathogenic"	""
"0000059637"	"0"	"90"	"12"	"88532958"	"88532958"	"dup"	"0"	"00006"	"CEP290_000013"	"g.88532958dup"	""	""	""	""	"copied from {CEP290:21}"	"Germline"	""	"rs62642052"	"0"	""	""	"g.88139181dup"	""	"pathogenic"	""
"0000059638"	"0"	"90"	"12"	"88532935"	"88532935"	"del"	"0"	"00006"	"CEP290_000014"	"g.88532935del"	""	""	""	""	"copied from {CEP290:78}"	"Germline"	""	""	"0"	""	""	"g.88139158del"	""	"pathogenic"	""
"0000059639"	"0"	"90"	"12"	"88530424"	"88530424"	"del"	"0"	"00006"	"CEP290_000015"	"g.88530424del"	""	""	""	""	"copied from {CEP290:162}"	"Germline"	""	""	"0"	""	""	"g.88136647del"	""	"pathogenic"	""
"0000059640"	"0"	"90"	"12"	"88530477"	"88530478"	"del"	"0"	"00006"	"CEP290_000016"	"g.88530477_88530478del"	""	""	""	""	"copied from {CEP290:160}"	"Germline"	""	""	"0"	""	""	"g.88136700_88136701del"	""	"pathogenic"	""
"0000059641"	"1"	"90"	"12"	"88530479"	"88530480"	"delins"	"0"	"00006"	"CEP290_000017"	"g.88530479_88530480delinsA"	""	"{PMID:Baala 2007:17564974}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88136702_88136703delinsA"	""	"pathogenic (recessive)"	""
"0000059642"	"0"	"90"	"12"	"88530539"	"88530539"	"subst"	"0"	"00006"	"CEP290_000018"	"g.88530539G>A"	""	""	""	""	"copied from {CEP290:146}"	"Germline"	""	""	"0"	""	""	"g.88136762G>A"	""	"pathogenic"	""
"0000059643"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00006"	"CEP290_000019"	"g.88530477_88530480del"	""	"{OMIM610142:0008}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	""
"0000059644"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00006"	"CEP290_000019"	"g.88530477_88530480del"	""	""	""	""	"copied from {CEP290:51}"	"Germline"	""	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	""
"0000059646"	"3"	"90"	"12"	"88524101"	"88524101"	"subst"	"4.16053E-6"	"00006"	"CEP290_000020"	"g.88524101G>A"	""	"{PMID:Shaheen 2013:23169490}"	""	""	"in {CEP290:80}"	"Germline"	""	""	"0"	""	""	"g.88130324G>A"	""	"pathogenic (recessive)"	""
"0000059647"	"0"	"90"	"12"	"88524148"	"88524148"	"subst"	"4.11363E-6"	"00006"	"CEP290_000021"	"g.88524148G>C"	""	""	""	""	"copied from {CEP290:98}"	"Germline"	""	""	"0"	""	""	"g.88130371G>C"	""	"pathogenic"	""
"0000059648"	"0"	"10"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00006"	"CEP290_000022"	"g.88523494C>G"	""	""	""	""	"copied from {CEP290:117}"	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"benign"	""
"0000059649"	"0"	"90"	"12"	"88523644"	"88523645"	"del"	"0"	"00006"	"CEP290_000023"	"g.88523644_88523645del"	""	""	""	""	"copied from {CEP290:20}"	"Germline"	""	"rs62640578"	"0"	""	""	"g.88129867_88129868del"	""	"pathogenic"	""
"0000059650"	"0"	"50"	"12"	"88522735"	"88522735"	"subst"	"0"	"00006"	"CEP290_000024"	"g.88522735T>C"	""	""	""	""	"copied from {CEP290:118}"	"Germline"	""	""	"0"	""	""	"g.88128958T>C"	""	"VUS"	""
"0000059651"	"0"	"90"	"12"	"88514869"	"88514873"	"del"	"0"	"00006"	"CEP290_000025"	"g.88514869_88514873del"	""	"{OMIM610142:0011}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88121092_88121096del"	""	"pathogenic"	""
"0000059652"	"0"	"90"	"12"	"88514869"	"88514873"	"del"	"0"	"00006"	"CEP290_000025"	"g.88514869_88514873del"	""	""	""	""	"copied from {CEP290:79}"	"Germline"	""	""	"0"	""	""	"g.88121092_88121096del"	""	"pathogenic"	""
"0000059653"	"11"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00006"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Baala 2007:17564974}"	""	"1219_1220delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic (recessive)"	""
"0000059654"	"0"	"90"	"12"	"88513993"	"88513997"	"del"	"0"	"00006"	"CEP290_000027"	"g.88513993_88513997del"	""	""	""	""	"copied from {CEP290:92}"	"Germline"	""	""	"0"	""	""	"g.88120216_88120220del"	""	"pathogenic"	""
"0000059655"	"0"	"90"	"12"	"88514054"	"88514054"	"del"	"0"	"00006"	"CEP290_000028"	"g.88514054del"	""	""	""	""	"copied from {CEP290:75}"	"Germline"	""	""	"0"	""	""	"g.88120277del"	""	"pathogenic"	""
"0000059656"	"0"	"90"	"12"	"88512495"	"88512495"	"del"	"0"	"00006"	"CEP290_000029"	"g.88512495del"	""	""	""	""	"copied from {CEP290:23}"	"Germline"	""	"rs62640579"	"0"	""	""	"g.88118718del"	""	"pathogenic"	""
"0000059657"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00006"	"CEP290_000030"	"g.88512314del"	""	""	""	""	"copied from {CEP290:54}"	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000059658"	"0"	"90"	"12"	"88512288"	"88512289"	"del"	"0"	"00006"	"CEP290_000031"	"g.88512288_88512289del"	""	""	""	""	"copied from {CEP290:57}"	"Germline"	""	""	"0"	""	""	"g.88118511_88118512del"	""	"pathogenic"	""
"0000059659"	"0"	"90"	"12"	"88512262"	"88512262"	"subst"	"0"	"00006"	"CEP290_000032"	"g.88512262G>C"	""	""	""	""	"copied from {CEP290:39}"	"Germline"	""	""	"0"	""	""	"g.88118485G>C"	""	"pathogenic"	""
"0000059660"	"0"	"90"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00006"	"CEP290_000033"	"g.88512326G>A"	""	""	""	""	"copied from {CEP290:73}"	"Germline"	""	""	"0"	""	""	"g.88118549G>A"	""	"pathogenic"	""
"0000059661"	"0"	"90"	"12"	"88510810"	"88510810"	"subst"	"0"	"00006"	"CEP290_000034"	"g.88510810C>T"	""	""	""	""	"copied from {CEP290:189}"	"Germline"	""	""	"0"	""	""	"g.88117033C>T"	""	"pathogenic"	""
"0000059662"	"0"	"90"	"12"	"88508924"	"88508925"	"del"	"0"	"00006"	"CEP290_000035"	"g.88508924_88508925del"	""	""	""	""	"copied from {CEP290:84}"	"Germline"	""	""	"0"	""	""	"g.88115147_88115148del"	""	"pathogenic"	""
"0000059663"	"3"	"90"	"12"	"88508926"	"88508929"	"del"	"0"	"00006"	"CEP290_000036"	"g.88508926_88508929del"	""	"{PMID:Shaheen 2013:23169490}"	""	"1860_1863delAAGA"	"in {CEP290:28}"	"Germline"	""	""	"0"	""	""	"g.88115149_88115152del"	""	"pathogenic (recessive)"	""
"0000059664"	"0"	"90"	"12"	"88508264"	"88508264"	"subst"	"0"	"00006"	"CEP290_000037"	"g.88508264T>A"	""	""	""	""	"copied from {CEP290:62}"	"Germline"	""	""	"0"	""	""	"g.88114487T>A"	""	"pathogenic"	""
"0000059665"	"0"	"90"	"12"	"88508257"	"88508257"	"del"	"0"	"00006"	"CEP290_000038"	"g.88508257del"	""	""	""	""	"copied from {CEP290:31}"	"Germline"	""	""	"0"	""	""	"g.88114480del"	""	"pathogenic"	""
"0000059666"	"0"	"90"	"12"	"88508313"	"88508313"	"subst"	"0"	"00006"	"CEP290_000039"	"g.88508313G>A"	""	""	""	""	"copied from {CEP290:43}"	"Germline"	""	""	"0"	""	""	"g.88114536G>A"	""	"pathogenic"	""
"0000059667"	"10"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00006"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Baala 2007:17564974}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic"	""
"0000059668"	"0"	"10"	"12"	"88505633"	"88505633"	"subst"	"0.138346"	"00006"	"CEP290_000041"	"g.88505633A>G"	""	""	""	""	"copied from {CEP290:121}"	"Germline"	""	""	"0"	""	""	"g.88111856A>G"	""	"benign"	""
"0000059669"	"0"	"90"	"12"	"88505566"	"88505570"	"dup"	"0"	"00006"	"CEP290_000042"	"g.88505566_88505570dup"	""	""	""	""	"copied from {CEP290:17}"	"Germline"	""	"rs62640580"	"0"	""	""	"g.88111789_88111793dup"	""	"pathogenic"	""
"0000059670"	"0"	"90"	"12"	"88505126"	"88505143"	"del"	"0"	"00006"	"CEP290_000043"	"g.88505126_88505143del"	""	""	""	""	"copied from {CEP290:101}"	"Germline"	""	""	"0"	""	""	"g.88111349_88111366del"	""	"pathogenic"	""
"0000059671"	"0"	"50"	"12"	"88505003"	"88505003"	"subst"	"2.06292E-5"	"00006"	"CEP290_000044"	"g.88505003A>G"	""	""	""	""	"copied from {CEP290:124}"	"Germline"	""	""	"0"	""	""	"g.88111226A>G"	""	"VUS"	""
"0000059672"	"0"	"10"	"12"	"88505078"	"88505078"	"subst"	"0"	"00006"	"CEP290_000045"	"g.88505078C>T"	""	""	""	""	"copied from {CEP290:123}\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	"rs2468255"	"0"	""	""	"g.88111301C>T"	""	"benign"	""
"0000059673"	"0"	"90"	"12"	"88505095"	"88505095"	"subst"	"0"	"00006"	"CEP290_000046"	"g.88505095G>A"	""	""	""	""	"copied from {CEP290:71}"	"Germline"	""	""	"0"	""	""	"g.88111318G>A"	""	"pathogenic"	""
"0000059674"	"0"	"90"	"12"	"88505097"	"88505097"	"subst"	"5.38828E-6"	"00006"	"CEP290_000047"	"g.88505097A>C"	""	"{OMIM610142:0006}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88111320A>C"	""	"pathogenic"	""
"0000059675"	"0"	"90"	"12"	"88505097"	"88505097"	"subst"	"5.38828E-6"	"00006"	"CEP290_000047"	"g.88505097A>C"	""	""	""	""	"copied from {CEP290:16}"	"Germline"	""	""	"0"	""	""	"g.88111320A>C"	""	"pathogenic"	""
"0000059676"	"0"	"10"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"00006"	"CEP290_000048"	"g.88500847T>C"	""	""	""	""	"copied from {CEP290:125}"	"Germline"	""	"rs11104738"	"0"	""	""	"g.88107070T>C"	""	"benign"	""
"0000059677"	"0"	"90"	"12"	"88500574"	"88500574"	"subst"	"0"	"00006"	"CEP290_000049"	"g.88500574G>A"	""	""	""	""	"copied from {CEP290:148}"	"Germline"	""	""	"0"	""	""	"g.88106797G>A"	""	"pathogenic"	""
"0000059678"	"0"	"50"	"12"	"88500552"	"88500552"	"subst"	"0.010788"	"00006"	"CEP290_000050"	"g.88500552A>C"	""	""	""	""	"copied from {CEP290:126}"	"Germline"	""	"rs7970228"	"0"	""	""	"g.88106775A>C"	""	"VUS"	""
"0000059679"	"11"	"90"	"12"	"88496700"	"88496700"	"dup"	"0"	"00006"	"CEP290_000051"	"g.88496700dup"	""	"{PMID:Baala 2007:17564974}"	""	"2906dupA"	"{CEP290:85}"	"Germline"	""	""	"0"	""	""	"g.88102923dup"	""	"pathogenic (recessive)"	""
"0000059680"	"21"	"90"	"12"	"88490725"	"88490725"	"subst"	"0"	"00006"	"CEP290_000052"	"g.88490725C>A"	""	"{PMID:Baala 2007:17564974}"	""	""	"{CEP290:87}"	"Germline"	""	""	"0"	""	""	"g.88096948C>A"	""	"pathogenic (recessive)"	""
"0000059681"	"3"	"90"	"12"	"88487688"	"88487688"	"del"	"0"	"00006"	"CEP290_000053"	"g.88487688del"	""	"{PMID:Baala 2007:17564974}"	""	"3175delA"	""	"Germline"	""	""	"0"	""	""	"g.88093911del"	""	"pathogenic (recessive)"	""
"0000059682"	"0"	"90"	"12"	"88487564"	"88487564"	"subst"	"0"	"00006"	"CEP290_000054"	"g.88487564C>A"	""	""	""	""	"copied from {CEP290:48}"	"Germline"	""	""	"0"	""	""	"g.88093787C>A"	""	"pathogenic"	""
"0000059683"	"0"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"00006"	"CEP290_000055"	"g.88487688dup"	""	""	""	""	"copied from {CEP290:11}"	"Germline"	""	"rs62640570"	"0"	""	""	"g.88093911dup"	""	"pathogenic"	""
"0000059684"	"0"	"90"	"12"	"88487680"	"88487680"	"del"	"0"	"00006"	"CEP290_000056"	"g.88487680del"	""	""	""	""	"copied from {CEP290:4}"	"Germline"	""	""	"0"	""	""	"g.88093903del"	""	"pathogenic"	""
"0000059685"	"0"	"90"	"12"	"88486498"	"88486498"	"dup"	"0"	"00006"	"CEP290_000057"	"g.88486498dup"	""	""	""	""	"copied from {CEP290:166}"	"Germline"	""	""	"0"	""	""	"g.88092721dup"	""	"pathogenic"	""
"0000059686"	"0"	"90"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00006"	"CEP290_000058"	"g.88483027G>A"	""	""	""	""	"copied from {CEP290:60}"	"Germline"	""	""	"0"	""	""	"g.88089250G>A"	""	"pathogenic"	""
"0000059687"	"0"	"90"	"12"	"88482813"	"88482813"	"del"	"0"	"00006"	"CEP290_000059"	"g.88482813del"	""	""	""	""	"copied from {CEP290:50}"	"Germline"	""	""	"0"	""	""	"g.88089036del"	""	"pathogenic"	""
"0000059688"	"0"	"90"	"12"	"88482837"	"88482837"	"del"	"0"	"00006"	"CEP290_000060"	"g.88482837del"	""	""	""	""	"copied from {CEP290:168}"	"Germline"	""	""	"0"	""	""	"g.88089060del"	""	"pathogenic"	""
"0000059689"	"0"	"90"	"12"	"88483024"	"88483024"	"subst"	"0"	"00006"	"CEP290_000061"	"g.88483024G>A"	""	""	""	""	"copied from {CEP290:19}"	"Germline"	""	"rs62640581"	"0"	""	""	"g.88089247G>A"	""	"pathogenic"	""
"0000059691"	"0"	"90"	"12"	"88482916"	"88482916"	"subst"	"0"	"00006"	"CEP290_000063"	"g.88482916G>A"	""	""	""	""	"copied from {CEP290:47}"	"Germline"	""	""	"0"	""	""	"g.88089139G>A"	""	"pathogenic"	""
"0000059693"	"0"	"90"	"12"	"88481636"	"88481637"	"del"	"0"	"00006"	"CEP290_000065"	"g.88481636_88481637del"	""	""	""	""	"copied from {CEP290:24}"	"Germline"	""	"rs62640582"	"0"	""	""	"g.88087859_88087860del"	""	"pathogenic"	""
"0000059694"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00006"	"CEP290_000066"	"g.88479860G>A"	""	""	""	""	"copied from {CEP290:59}"	"Germline"	""	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000059695"	"0"	"90"	"12"	"88478415"	"88478415"	"del"	"0"	"00006"	"CEP290_000067"	"g.88478415del"	""	""	""	""	"copied from {CEP290:6}"	"Germline"	""	"rs62640572"	"0"	""	""	"g.88084638del"	""	"pathogenic"	""
"0000059696"	"0"	"90"	"12"	"88478415"	"88478415"	"del"	"0"	"00006"	"CEP290_000067"	"g.88478415del"	""	"{OMIM610142:0002}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88084638del"	""	"pathogenic"	""
"0000059697"	"0"	"90"	"12"	"88478410"	"88478412"	"del"	"0"	"00006"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	""	"copied from {CEP290:41}"	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"pathogenic"	""
"0000059698"	"0"	"50"	"12"	"88478371"	"88478371"	"subst"	"0"	"00006"	"CEP290_000069"	"g.88478371C>G"	""	""	""	""	"copied from {CEP290:188}"	"Germline"	""	""	"0"	""	""	"g.88084594C>G"	""	"VUS"	""
"0000059699"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00006"	"CEP290_000070"	"g.88477713T>A"	""	""	""	""	"copied from {CEP290:35}"	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000059700"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00006"	"CEP290_000070"	"g.88477713T>A"	""	"{OMIM610142:0007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000059701"	"0"	"90"	"12"	"88477704"	"88477704"	"subst"	"0"	"00006"	"CEP290_000071"	"g.88477704C>A"	""	""	""	""	"copied from {CEP290:1}"	"Germline"	""	"rs62640573"	"0"	""	""	"g.88083927C>A"	""	"pathogenic"	""
"0000059702"	"0"	"90"	"12"	"88477665"	"88477665"	"subst"	"0"	"00006"	"CEP290_000072"	"g.88477665G>A"	""	""	""	""	"copied from {CEP290:8}"	"Germline"	""	"rs62640574"	"0"	""	""	"g.88083888G>A"	""	"pathogenic"	""
"0000059703"	"0"	"50"	"12"	"88477630"	"88477630"	"subst"	"0.000868289"	"00006"	"CEP290_000073"	"g.88477630C>T"	""	""	""	""	"copied from {CEP290:128}"	"Germline"	""	""	"0"	""	""	"g.88083853C>T"	""	"VUS"	""
"0000059704"	"0"	"90"	"12"	"88477646"	"88477649"	"del"	"0"	"00006"	"CEP290_000074"	"g.88477646_88477649del"	""	""	""	""	"copied from {CEP290:64}"	"Germline"	""	""	"0"	""	""	"g.88083869_88083872del"	""	"pathogenic"	""
"0000059705"	"0"	"90"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00006"	"CEP290_000075"	"g.88476938G>A"	""	""	""	""	"copied from {CEP290:46}"	"Germline"	""	""	"0"	""	""	"g.88083161G>A"	""	"pathogenic"	""
"0000059706"	"0"	"90"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00006"	"CEP290_000076"	"g.88476854C>A"	""	""	""	""	"copied from {CEP290:25}"	"Germline"	""	"rs62638179"	"0"	""	""	"g.88083077C>A"	""	"pathogenic"	""
"0000059707"	"0"	"90"	"12"	"88476856"	"88476857"	"del"	"0"	"00006"	"CEP290_000077"	"g.88476856_88476857del"	""	""	""	""	"copied from {CEP290:52}"	"Germline"	""	""	"0"	""	""	"g.88083079_88083080del"	""	"pathogenic"	""
"0000059708"	"0"	"90"	"12"	"88476858"	"88476859"	"del"	"0"	"00006"	"CEP290_000078"	"g.88476858_88476859del"	""	""	""	""	"copied from {CEP290:49}"	"Germline"	""	""	"0"	""	""	"g.88083081_88083082del"	""	"pathogenic"	""
"0000059709"	"0"	"90"	"12"	"88474144"	"88474144"	"del"	"0"	"00006"	"CEP290_000079"	"g.88474144del"	""	""	""	""	"copied from {CEP290:99}"	"Germline"	""	""	"0"	""	""	"g.88080367del"	""	"pathogenic"	""
"0000059710"	"0"	"50"	"12"	"88474104"	"88474104"	"subst"	"0"	"00006"	"CEP290_000080"	"g.88474104A>G"	""	""	""	""	"copied from {CEP290:190}"	"Germline"	""	""	"0"	""	""	"g.88080327A>G"	""	"VUS"	""
"0000059711"	"0"	"90"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00006"	"CEP290_000081"	"g.88474022del"	""	""	""	""	"copied from {CEP290:30}"	"Germline"	""	""	"0"	""	""	"g.88080245del"	""	"pathogenic"	""
"0000059712"	"0"	"90"	"12"	"88472977"	"88472978"	"del"	"0"	"00006"	"CEP290_000082"	"g.88472977_88472978del"	""	""	""	""	"copied from {CEP290:45}"	"Germline"	""	""	"0"	""	""	"g.88079200_88079201del"	""	"pathogenic"	""
"0000059713"	"0"	"90"	"12"	"88472889"	"88472889"	"subst"	"2.63532E-5"	"00006"	"CEP290_000083"	"g.88472889G>A"	""	""	""	""	"copied from {CEP290:158}"	"Germline"	""	""	"0"	""	""	"g.88079112G>A"	""	"pathogenic"	""
"0000059714"	"0"	"90"	"12"	"88471545"	"88471548"	"del"	"0"	"00006"	"CEP290_000084"	"g.88471545_88471548del"	""	""	""	""	"copied from {CEP290:12}"	"Germline"	""	"rs62640576"	"0"	""	""	"g.88077768_88077771del"	""	"pathogenic"	""
"0000059715"	"0"	"90"	"12"	"88471526"	"88471544"	"del"	"0"	"00006"	"CEP290_000085"	"g.88471526_88471544del"	""	""	""	""	"copied from {CEP290:172}"	"Germline"	""	""	"0"	""	""	"g.88077749_88077767del"	""	"pathogenic"	""
"0000059716"	"0"	"90"	"12"	"88471628"	"88471629"	"del"	"0"	"00006"	"CEP290_000086"	"g.88471628_88471629del"	""	""	""	""	"copied from {CEP290:65}"	"Germline"	""	""	"0"	""	""	"g.88077851_88077852del"	""	"pathogenic"	""
"0000059717"	"0"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"00006"	"CEP290_000087"	"g.88471571del"	""	"{OMIM610142:0012}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077794del"	""	"pathogenic"	""
"0000059718"	"0"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"00006"	"CEP290_000087"	"g.88471571del"	""	""	""	""	"copied from {CEP290:69}"	"Germline"	""	""	"0"	""	""	"g.88077794del"	""	"pathogenic"	""
"0000059719"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00006"	"CEP290_000088"	"g.88471040C>A"	""	"{OMIM610142:0001}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000059720"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00006"	"CEP290_000088"	"g.88471040C>A"	""	""	""	""	"copied from {CEP290:2}"	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000059721"	"10"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00010"	"CEP290_000088"	"g.88471040C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000059722"	"20"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00010"	"CEP290_000088"	"g.88471040C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000059723"	"0"	"90"	"12"	"1"	"4294967295"	"subst"	"0"	"00006"	"CEP290_000089"	"g.?G>T"	""	""	""	""	"no Glu1903 in protein, Glu1902*?, copied from {CEP290:36}"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000059724"	"0"	"90"	"12"	"1"	"4294967295"	"subst"	"0"	"00006"	"CEP290_000089"	"g.?G>T"	""	"{OMIM610142:0013}"	""	""	"no Glu1903 in protein, Glu1902*?"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000059725"	"0"	"90"	"12"	"88471097"	"88471100"	"del"	"0"	"00006"	"CEP290_000090"	"g.88471097_88471100del"	""	""	""	""	"copied from {CEP290:56}"	"Germline"	""	""	"0"	""	""	"g.88077320_88077323del"	""	"pathogenic"	""
"0000059726"	"21"	"90"	"12"	"88471064"	"88471064"	"dup"	"0"	"00006"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:Baala 2007:17564974}"	""	"5649dupA"	"{CEP290:13}"	"Germline"	""	"rs62642051"	"0"	""	""	"g.88077287dup"	""	"pathogenic (recessive)"	""
"0000059727"	"3"	"90"	"12"	"88465567"	"88465567"	"del"	"0"	"00006"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Tallila 2008:19466712}"	""	"5850delT"	""	"Germline"	""	""	"0"	""	""	"g.88071790del"	""	"pathogenic (recessive)"	""
"0000059728"	"0"	"90"	"12"	"88465679"	"88465679"	"del"	"0"	"00006"	"CEP290_000093"	"g.88465679del"	""	""	""	""	"copied from {CEP290:61}"	"Germline"	""	""	"0"	""	""	"g.88071902del"	""	"pathogenic"	""
"0000059729"	"0"	"90"	"12"	"88465691"	"88465691"	"subst"	"0"	"00006"	"CEP290_000094"	"g.88465691C>A"	""	""	""	""	"copied from {CEP290:66}"	"Germline"	""	""	"0"	""	""	"g.88071914C>A"	""	"pathogenic"	""
"0000059730"	"0"	"90"	"12"	"88465601"	"88465605"	"del"	"0"	"00006"	"CEP290_000095"	"g.88465601_88465605del"	""	""	""	""	"copied from {CEP290:26}"	"Germline"	""	"rs62638180"	"0"	""	""	"g.88071824_88071828del"	""	"pathogenic"	""
"0000059731"	"0"	"90"	"12"	"88465589"	"88465589"	"subst"	"0"	"00006"	"CEP290_000096"	"g.88465589G>A"	""	""	""	""	"copied from {CEP290:3}"	"Germline"	""	""	"0"	""	""	"g.88071812G>A"	""	"pathogenic"	""
"0000059732"	"0"	"90"	"12"	"88465637"	"88465637"	"subst"	"2.12172E-5"	"00006"	"CEP290_000097"	"g.88465637G>A"	""	""	""	""	"copied from {CEP290:100}"	"Germline"	""	""	"0"	""	""	"g.88071860G>A"	""	"pathogenic"	""
"0000059733"	"0"	"90"	"12"	"88465141"	"88465141"	"subst"	"4.08627E-6"	"00006"	"CEP290_000098"	"g.88465141C>A"	""	""	""	""	"copied from {CEP290:58}"	"Germline"	""	""	"0"	""	""	"g.88071364C>A"	""	"pathogenic"	""
"0000059734"	"0"	"90"	"12"	"88465150"	"88465150"	"subst"	"1.22652E-5"	"00006"	"CEP290_000099"	"g.88465150G>A"	""	""	""	""	"copied from {CEP290:95}"	"Germline"	""	""	"0"	""	""	"g.88071373G>A"	""	"pathogenic"	""
"0000059735"	"0"	"90"	"12"	"88465215"	"88465217"	"delins"	"0"	"00006"	"CEP290_000100"	"g.88465215_88465217delinsCC"	""	""	""	""	"copied from {CEP290:174}"	"Germline"	""	""	"0"	""	""	"g.88071438_88071440delinsCC"	""	"pathogenic"	""
"0000059736"	"0"	"90"	"12"	"88465216"	"88465216"	"subst"	"0"	"00006"	"CEP290_000101"	"g.88465216C>A"	""	""	""	""	"copied from {CEP290:18}"	"Germline"	""	""	"0"	""	""	"g.88071439C>A"	""	"pathogenic"	""
"0000059737"	"0"	"90"	"12"	"88462362"	"88462362"	"subst"	"0"	"00006"	"CEP290_000102"	"g.88462362G>T"	""	""	""	""	"copied from {CEP290:67}"	"Germline"	""	""	"0"	""	""	"g.88068585G>T"	""	"pathogenic"	""
"0000059738"	"0"	"90"	"12"	"88462403"	"88462403"	"subst"	"0"	"00006"	"CEP290_000103"	"g.88462403G>A"	""	""	""	""	"copied from {CEP290:55}"	"Germline"	""	""	"0"	""	""	"g.88068626G>A"	""	"pathogenic"	""
"0000059739"	"0"	"90"	"12"	"88456495"	"88456495"	"subst"	"0"	"00006"	"CEP290_000104"	"g.88456495G>A"	""	""	""	""	"copied from {CEP290:14}"	"Germline"	""	"rs62640577"	"0"	""	""	"g.88062718G>A"	""	"pathogenic"	""
"0000059740"	"0"	"90"	"12"	"88456549"	"88456549"	"del"	"5.26848E-5"	"00006"	"CEP290_000105"	"g.88456549del"	""	""	""	""	"copied from {CEP290:63}"	"Germline"	""	""	"0"	""	""	"g.88062772del"	""	"pathogenic"	""
"0000059741"	"0"	"90"	"12"	"88453721"	"88453721"	"del"	"0"	"00006"	"CEP290_000106"	"g.88453721del"	""	""	""	""	"copied from {CEP290:44}"	"Germline"	""	""	"0"	""	""	"g.88059944del"	""	"pathogenic"	""
"0000059742"	"0"	"50"	"12"	"88452759"	"88452759"	"subst"	"4.50668E-5"	"00006"	"CEP290_000107"	"g.88452759A>C"	""	""	""	""	"copied from {CEP290:132}"	"Germline"	""	""	"0"	""	""	"g.88058982A>C"	""	"VUS"	""
"0000059743"	"0"	"90"	"12"	"88449443"	"88449443"	"del"	"0"	"00006"	"CEP290_000108"	"g.88449443del"	""	""	""	""	"copied from {CEP290:70}"	"Germline"	""	""	"0"	""	""	"g.88055666del"	""	"pathogenic"	""
"0000059744"	"0"	"90"	"12"	"88449451"	"88449451"	"del"	"0"	"00006"	"CEP290_000109"	"g.88449451del"	""	""	""	""	"copied from {CEP290:72}"	"Germline"	""	""	"0"	""	""	"g.88055674del"	""	"pathogenic"	""
"0000059745"	"0"	"90"	"12"	"88443034"	"88443037"	"del"	"0"	"00006"	"CEP290_000110"	"g.88443034_88443037del"	""	""	""	""	"copied from {CEP290:200}"	"Germline"	""	""	"0"	""	""	"g.88049257_88049260del"	""	"pathogenic"	""
"0000059746"	"0"	"90"	"12"	"88443066"	"88443066"	"dup"	"0"	"00006"	"CEP290_000111"	"g.88443066dup"	""	""	""	""	"copied from {CEP290:10}"	"Germline"	""	""	"0"	""	""	"g.88049289dup"	""	"pathogenic"	""
"0000059747"	"0"	"90"	"12"	"88443081"	"88443084"	"dup"	"0"	"00006"	"CEP290_000112"	"g.88443081_88443084dup"	""	""	""	""	"copied from {CEP290:68}"	"Germline"	""	""	"0"	""	""	"g.88049304_88049307dup"	""	"pathogenic"	""
"0000059748"	"0"	"50"	"12"	"88443094"	"88443096"	"del"	"0"	"00006"	"CEP290_000113"	"g.88443094_88443096del"	""	""	""	""	"copied from {CEP290:97}"	"Germline"	""	""	"0"	""	""	"g.88049317_88049319del"	""	"VUS"	""
"0000059749"	"0"	"90"	"12"	"88519147"	"88519147"	"subst"	"0"	"00006"	"CEP290_000114"	"g.88519147C>T"	""	""	""	""	"copied from {CEP290:90}"	"Germline"	""	""	"0"	""	""	"g.88125370C>T"	""	"pathogenic"	""
"0000059750"	"0"	"90"	"12"	"88519022"	"88519022"	"subst"	"0"	"00006"	"CEP290_000115"	"g.88519022C>T"	""	""	""	""	"copied from {CEP290:176}"	"Germline"	""	""	"0"	""	""	"g.88125245C>T"	""	"pathogenic"	""
"0000059751"	"0"	"90"	"12"	"88512255"	"88512255"	"subst"	"0"	"00006"	"CEP290_000116"	"g.88512255T>C"	""	""	""	""	"copied from {CEP290:42}"	"Germline"	""	""	"0"	""	""	"g.88118478T>C"	""	"pathogenic"	""
"0000059752"	"0"	"90"	"12"	"88508341"	"88508341"	"subst"	"0"	"00006"	"CEP290_000117"	"g.88508341T>G"	""	""	""	""	"copied from {CEP290:206}"	"Germline"	""	""	"0"	""	""	"g.88114564T>G"	""	"pathogenic"	""
"0000059753"	"0"	"10"	"12"	"88508171"	"88508171"	"del"	"0"	"00006"	"CEP290_000118"	"g.88508171del"	""	""	""	""	"copied from {CEP290:120}"	"Germline"	""	"rs11358611"	"0"	""	""	"g.88114394del"	""	"benign"	""
"0000059754"	"0"	"90"	"12"	"88505124"	"88505132"	"del"	"0"	"00006"	"CEP290_000119"	"g.88505124_88505132del"	""	""	""	""	"copied from {CEP290:7}"	"Germline"	""	""	"0"	""	""	"g.88111347_88111355del"	""	"pathogenic"	""
"0000059755"	"0"	"90"	"12"	"88505124"	"88505132"	"del"	"0"	"00006"	"CEP290_000119"	"g.88505124_88505132del"	""	"{OMIM610142:0004}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88111347_88111355del"	""	"pathogenic"	""
"0000059756"	"0"	"90"	"12"	"88505130"	"88505130"	"subst"	"0"	"00006"	"CEP290_000120"	"g.88505130T>G"	""	""	""	""	"copied from {CEP290:178}"	"Germline"	""	""	"0"	""	""	"g.88111353T>G"	""	"pathogenic"	""
"0000059757"	"0"	"10"	"12"	"88505426"	"88505426"	"subst"	"0.00736655"	"00006"	"CEP290_000121"	"g.88505426A>G"	""	""	""	""	"copied from {CEP290:122}"	"Germline"	""	"rs45461003"	"0"	""	""	"g.88111649A>G"	""	"benign"	""
"0000059758"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000122"	"g.88494960T>C"	""	""	""	""	"copied from {CEP290:15}"	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000059759"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000122"	"g.88494960T>C"	""	"{OMIM610142:0005}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000059760"	"0"	"90"	"12"	"88487754"	"88487754"	"subst"	"0"	"00006"	"CEP290_000123"	"g.88487754T>C"	""	""	""	""	"copied from {CEP290:94}"	"Germline"	""	""	"0"	""	""	"g.88093977T>C"	""	"pathogenic"	""
"0000059761"	"0"	"90"	"12"	"88487753"	"88487753"	"subst"	"0"	"00006"	"CEP290_000124"	"g.88487753C>T"	""	""	""	""	"copied from {CEP290:88}"	"Germline"	""	""	"0"	""	""	"g.88093976C>T"	""	"pathogenic"	""
"0000059762"	"0"	"90"	"12"	"88486609"	"88486610"	"delins"	"0"	"00006"	"CEP290_000125"	"g.88486609_88486610delinsTT"	""	""	""	""	"copied from {CEP290:180}"	"Germline"	""	""	"0"	""	""	"g.88092832_88092833delinsTT"	""	"pathogenic"	""
"0000059763"	"0"	"90"	"12"	"88486610"	"88486610"	"subst"	"0"	"00006"	"CEP290_000126"	"g.88486610C>G"	""	""	""	""	"copied from {CEP290:76}"	"Germline"	""	""	"0"	""	""	"g.88092833C>G"	""	"pathogenic"	""
"0000059764"	"0"	"90"	"12"	"88534825"	"88534830"	"del"	"0"	"00006"	"CEP290_000127"	"g.88534825_88534830del"	""	""	""	"103-13_103-18del"	"copied from {CEP290:53}"	"Germline"	""	""	"0"	""	""	"g.88141048_88141053del"	""	"pathogenic"	""
"0000059765"	"0"	"90"	"12"	"88480276"	"88480276"	"subst"	"5.08326E-6"	"00006"	"CEP290_000128"	"g.88480276C>T"	""	""	""	""	"copied from {CEP290:74}"	"Germline"	""	""	"0"	""	""	"g.88086499C>T"	""	"pathogenic"	""
"0000059766"	"0"	"10"	"12"	"88478323"	"88478323"	"del"	"0"	"00006"	"CEP290_000129"	"g.88478323del"	""	""	""	""	"copied from {CEP290:127}"	"Germline"	""	"rs11356711"	"0"	""	""	"g.88084546del"	""	"benign"	""
"0000059767"	"0"	"90"	"12"	"88473958"	"88473958"	"subst"	"0"	"00006"	"CEP290_000130"	"g.88473958C>T"	""	""	""	""	"copied from {CEP290:29}"	"Germline"	""	""	"0"	""	""	"g.88080181C>T"	""	"pathogenic"	""
"0000059769"	"11"	"90"	"12"	"88534731"	"88534731"	"subst"	"0"	"00006"	"CEP290_000131"	"g.88534731A>T"	""	"{PMID:Baala 2007:17564974}, {OMIM610142:0009}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88140954A>T"	""	"pathogenic (recessive)"	""
"0000059770"	"0"	"90"	"12"	"88534732"	"88534732"	"subst"	"0"	"00006"	"CEP290_000132"	"g.88534732C>A"	""	""	""	""	"copied from {CEP290:22}"	"Germline"	""	""	"0"	""	""	"g.88140955C>A"	""	"pathogenic"	""
"0000059771"	"0"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00006"	"CEP290_000133"	"g.88471122C>G"	""	""	""	""	"copied from {CEP290:27}"	"Germline"	""	""	"0"	""	""	"g.88077345C>G"	""	"pathogenic"	""
"0000059772"	"0"	"10"	"12"	"88470954"	"88470954"	"subst"	"0.129991"	"00006"	"CEP290_000134"	"g.88470954C>G"	""	""	""	""	"copied from {CEP290:130}"	"Germline"	""	"rs45477793"	"0"	""	""	"g.88077177C>G"	""	"benign"	""
"0000059773"	"0"	"10"	"12"	"88470974"	"88470974"	"subst"	"0.0200732"	"00006"	"CEP290_000135"	"g.88470974T>G"	""	""	""	""	"copied from {CEP290:129}"	"Germline"	""	"rs17015438"	"0"	""	""	"g.88077197T>G"	""	"benign"	""
"0000059774"	"0"	"90"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00006"	"CEP290_000136"	"g.88456563A>C"	""	""	""	""	"copied from {CEP290:77}"	"Germline"	""	""	"0"	""	""	"g.88062786A>C"	""	"pathogenic"	""
"0000059775"	"0"	"10"	"12"	"88454602"	"88454602"	"dup"	"0"	"00006"	"CEP290_000137"	"g.88454602dup"	""	""	""	""	"copied from {CEP290:131}"	"Germline"	""	"rs11405846"	"0"	""	""	"g.88060825dup"	""	"benign"	""
"0000059776"	"0"	"10"	"12"	"88447561"	"88447561"	"subst"	"0.0197402"	"00006"	"CEP290_000138"	"g.88447561G>C"	""	""	""	""	"copied from {CEP290:133}"	"Germline"	""	"rs45477492"	"0"	""	""	"g.88053784G>C"	""	"benign"	""
"0000059777"	"0"	"10"	"12"	"88443213"	"88443213"	"subst"	"0.0154214"	"00006"	"CEP290_000139"	"g.88443213A>G"	""	""	""	""	"copied from {CEP290:134}"	"Germline"	""	"rs45613639"	"0"	""	""	"g.88049436A>G"	""	"benign"	""
"0000059778"	"0"	"10"	"12"	"88532886"	"88532886"	"subst"	"0.0169082"	"00006"	"CEP290_000140"	"g.88532886T>C"	""	""	""	""	"copied from {CEP290:115}"	"Germline"	""	"rs45468703"	"0"	""	""	"g.88139109T>C"	""	"benign"	""
"0000059779"	"10"	"90"	"12"	"88477722"	"88477722"	"subst"	"0"	"00010"	"CEP290_000141"	"g.88477722C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083945C>A"	""	"pathogenic"	""
"0000059780"	"20"	"90"	"12"	"88477722"	"88477722"	"subst"	"0"	"00010"	"CEP290_000141"	"g.88477722C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083945C>A"	""	"pathogenic"	""
"0000079582"	"11"	"90"	"12"	"88500654"	"88500654"	"subst"	"0.000268632"	"00006"	"CEP290_000150"	"g.88500654G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88106877G>A"	""	"pathogenic"	""
"0000079691"	"21"	"90"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"00006"	"CEP290_000149"	"g.88519133C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88125356C>T"	""	"pathogenic"	""
"0000086044"	"1"	"90"	"12"	"88508274"	"88508274"	"subst"	"0"	"00552"	"CEP290_000152"	"g.88508274T>A"	""	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88114497T>A"	""	"pathogenic"	""
"0000086045"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00552"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000130076"	"3"	"70"	"12"	"88482945"	"88482945"	"dup"	"0"	"01758"	"CEP290_000153"	"g.88482945dup"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88089168dup"	""	"likely pathogenic"	"ACMG"
"0000162796"	"3"	"90"	"12"	"88534765"	"88534765"	"subst"	"0"	"01769"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	"needs Curator approval"	""	"g.88140988G>A"	""	"pathogenic"	""
"0000170887"	"0"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"01244"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"VUS"	"ACMG"
"0000170888"	"0"	"90"	"12"	"88514811"	"88514811"	"subst"	"0"	"01244"	"CEP290_000155"	"g.88514811A>T"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88121034A>T"	""	"pathogenic"	"ACMG"
"0000193784"	"11"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"02230"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Roosing 2017:28829391}"	""	""	"partial skipping of exon 7 and exon 7-8"	"Germline"	"yes"	""	"0"	""	""	"g.88131209G>A"	""	"pathogenic"	""
"0000193785"	"21"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"02230"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Roosing 2017:28829391}"	""	""	"partial skipping of exon 36"	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000193786"	"11"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"02230"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Roosing 2017:28829391}"	""	""	"Partial skipping of exon 7 and exon 7-8"	"Germline"	"yes"	""	"0"	""	""	"g.88131209G>A"	""	"pathogenic"	""
"0000193787"	"21"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"02230"	"CEP290_000070"	"g.88524986G>A"	""	"{PMID:Roosing 2017:28829391}"	""	""	"partial skipping of exon 36\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000247088"	"0"	"10"	"12"	"88532979"	"88532979"	"subst"	"0.00165421"	"02330"	"CEP290_000246"	"g.88532979A>T"	""	""	""	"CEP290(NM_025114.4):c.251-11T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88139202A>T"	""	"benign"	""
"0000247122"	"0"	"10"	"12"	"88530477"	"88530477"	"subst"	"0.00049985"	"02330"	"CEP290_000242"	"g.88530477A>G"	""	""	""	"CEP290(NM_025114.4):c.384T>C (p.D128=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88136700A>G"	""	"benign"	""
"0000250500"	"0"	"70"	"12"	"88449417"	"88449417"	"del"	"0"	"02329"	"CEP290_000167"	"g.88449417del"	""	""	""	"CEP290(NM_025114.4):c.6897delT (p.V2300*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88055640del"	""	"likely pathogenic"	""
"0000250986"	"0"	"10"	"12"	"88532979"	"88532979"	"subst"	"0.00165421"	"02326"	"CEP290_000246"	"g.88532979A>T"	""	""	""	"CEP290(NM_025114.4):c.251-11T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88139202A>T"	""	"benign"	""
"0000251062"	"0"	"10"	"12"	"88512318"	"88512318"	"subst"	"0"	"02326"	"CEP290_000214"	"g.88512318A>C"	""	""	""	"CEP290(NM_025114.4):c.1653T>G (p.D551E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118541A>C"	""	"benign"	""
"0000251076"	"0"	"10"	"12"	"88512485"	"88512485"	"subst"	"0.00148363"	"02326"	"CEP290_000216"	"g.88512485A>G"	""	""	""	"CEP290(NM_025114.3):c.1558T>C (p.(Phe520Leu)), CEP290(NM_025114.4):c.1558T>C (p.F520L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118708A>G"	""	"benign"	""
"0000251117"	"0"	"10"	"12"	"88500552"	"88500552"	"subst"	"0.010788"	"02326"	"CEP290_000050"	"g.88500552A>C"	""	""	""	"CEP290(NM_025114.4):c.2717T>G (p.L906W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88106775A>C"	""	"benign"	""
"0000251520"	"0"	"10"	"12"	"88471199"	"88471199"	"subst"	"0"	"02326"	"CEP290_000184"	"g.88471199A>G"	""	""	""	"CEP290(NM_025114.4):c.5587-78T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077422A>G"	""	"benign"	""
"0000251521"	"0"	"10"	"12"	"88482790"	"88482790"	"del"	"0"	"02326"	"CEP290_000192"	"g.88482790del"	""	""	""	"CEP290(NM_025114.4):c.4029+29delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089013del"	""	"benign"	""
"0000251522"	"0"	"10"	"12"	"88505426"	"88505426"	"subst"	"0.00736655"	"02326"	"CEP290_000121"	"g.88505426A>G"	""	""	""	"CEP290(NM_025114.4):c.2217+45T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111649A>G"	""	"benign"	""
"0000251523"	"0"	"10"	"12"	"88508171"	"88508171"	"del"	"0"	"02326"	"CEP290_000118"	"g.88508171del"	""	""	""	"CEP290(NM_025114.4):c.2052+30delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88114394del"	""	"benign"	""
"0000251524"	"0"	"10"	"12"	"88510771"	"88510771"	"del"	"0"	"02326"	"CEP290_000209"	"g.88510771del"	""	""	""	"CEP290(NM_025114.4):c.1824+59delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88116994del"	""	"benign"	""
"0000251525"	"0"	"10"	"12"	"88512352"	"88512352"	"subst"	"0.00187028"	"02326"	"CEP290_000215"	"g.88512352A>G"	""	""	""	"CEP290(NM_025114.4):c.1624-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118575A>G"	""	"benign"	""
"0000251526"	"0"	"10"	"12"	"88525017"	"88525017"	"del"	"0"	"02326"	"CEP290_000239"	"g.88525017del"	""	""	""	"CEP290(NM_025114.4):c.442-11delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88131240del"	""	"benign"	""
"0000251692"	"0"	"30"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"02326"	"CEP290_000175"	"g.88454728A>G"	""	""	""	"CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88060951A>G"	""	"likely benign"	""
"0000253464"	"0"	"10"	"12"	"88505633"	"88505633"	"subst"	"0.138346"	"01943"	"CEP290_000041"	"g.88505633A>G"	""	""	""	"CEP290(NM_025114.3):c.2055T>C (p.A685=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111856A>G"	""	"benign"	""
"0000253859"	"0"	"10"	"12"	"88483280"	"88483280"	"del"	"0"	"01943"	"CEP290_000268"	"g.88483280del"	""	""	""	"CEP290(NM_025114.3):c.3574-9delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089503del"	""	"benign"	""
"0000253860"	"0"	"10"	"12"	"88525014"	"88525014"	"subst"	"0"	"01943"	"CEP290_000240"	"g.88525014A>T"	""	""	""	"CEP290(NM_025114.3):c.442-19T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88131237A>T"	""	"benign"	""
"0000254241"	"0"	"30"	"12"	"88483184"	"88483184"	"subst"	"0.00151739"	"01943"	"CEP290_000193"	"g.88483184A>G"	""	""	""	"CEP290(NM_025114.3):c.3654T>C (p.L1218=), CEP290(NM_025114.4):c.3654T>C (p.L1218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089407A>G"	""	"likely benign"	""
"0000254689"	"0"	"30"	"12"	"88512494"	"88512494"	"subst"	"4.08067E-6"	"01943"	"CEP290_000217"	"g.88512494A>G"	""	""	""	"CEP290(NM_025114.3):c.1549T>C (p.L517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118717A>G"	""	"likely benign"	""
"0000255278"	"0"	"30"	"12"	"88514057"	"88514057"	"subst"	"0.00033169"	"01943"	"CEP290_000223"	"g.88514057A>C"	""	""	""	"CEP290(NM_025114.3):c.1360-4T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120280A>C"	""	"likely benign"	""
"0000256234"	"0"	"50"	"12"	"88443080"	"88443080"	"subst"	"0"	"01943"	"CEP290_000159"	"g.88443080A>C"	""	""	""	"CEP290(NM_025114.3):c.7321T>G (p.L2441V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88049303A>C"	""	"VUS"	""
"0000256711"	"0"	"50"	"12"	"88486616"	"88486616"	"subst"	"3.3384E-5"	"01943"	"CEP290_000293"	"g.88486616A>C"	""	""	""	"CEP290(NM_025114.3):c.3310-7T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88092839A>C"	""	"VUS"	""
"0000264539"	"0"	"10"	"12"	"88535104"	"88535104"	"subst"	"8.69308E-5"	"02330"	"CEP290_000250"	"g.88535104C>T"	""	""	""	"CEP290(NM_025114.4):c.-20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88141327C>T"	""	"benign"	""
"0000264540"	"0"	"50"	"12"	"88514010"	"88514010"	"subst"	"0"	"02330"	"CEP290_000221"	"g.88514010C>T"	""	""	""	"CEP290(NM_025114.4):c.1403G>A (p.C468Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120233C>T"	""	"VUS"	""
"0000264541"	"0"	"10"	"12"	"88513885"	"88513885"	"subst"	"0.00086176"	"02330"	"CEP290_000218"	"g.88513885G>A"	""	""	""	"CEP290(NM_025114.3):c.1522+6C>T (p.(=)), CEP290(NM_025114.4):c.1522+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120108G>A"	""	"benign"	""
"0000264542"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"02330"	"CEP290_000002"	"g.88494960T>C"	""	""	""	"CEP290(NM_025114.4):c.2991+1655A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000264543"	"0"	"30"	"12"	"88490769"	"88490769"	"subst"	"0"	"02330"	"CEP290_000195"	"g.88490769T>C"	""	""	""	"CEP290(NM_025114.4):c.2999A>G (p.N1000S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88096992T>C"	""	"likely benign"	""
"0000264545"	"0"	"50"	"12"	"88479893"	"88479893"	"subst"	"2.84655E-5"	"02330"	"CEP290_000290"	"g.88479893C>T"	""	""	""	"CEP290(NM_025114.4):c.4360G>A (p.E1454K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88086116C>T"	""	"VUS"	""
"0000264547"	"0"	"10"	"12"	"88478636"	"88478636"	"subst"	"2.84184E-5"	"02330"	"CEP290_000288"	"g.88478636T>C"	""	""	""	"CEP290(NM_025114.3):c.4438-7A>G (p.(=)), CEP290(NM_025114.4):c.4438-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88084859T>C"	""	"benign"	""
"0000264548"	"0"	"10"	"12"	"88478591"	"88478591"	"subst"	"0.000246377"	"02330"	"CEP290_000287"	"g.88478591T>C"	""	""	""	"CEP290(NM_025114.4):c.4476A>G (p.E1492=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88084814T>C"	""	"benign"	""
"0000264549"	"0"	"30"	"12"	"88478512"	"88478512"	"subst"	"0.000187141"	"02330"	"CEP290_000285"	"g.88478512T>A"	""	""	""	"CEP290(NM_025114.4):c.4555A>T (p.I1519L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88084735T>A"	""	"likely benign"	""
"0000264551"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"02330"	"CEP290_000070"	"g.88477713T>A"	""	""	""	"CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000264552"	"0"	"10"	"12"	"88474202"	"88474203"	"del"	"0"	"02330"	"CEP290_000282"	"g.88474202_88474203del"	""	""	""	"CEP290(NM_025114.4):c.5013-20_5013-19delCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88080425_88080426del"	""	"benign"	""
"0000264553"	"0"	"10"	"12"	"88465242"	"88465242"	"subst"	"1.36442E-5"	"02330"	"CEP290_000181"	"g.88465242T>A"	""	""	""	"CEP290(NM_025114.4):c.5856-16A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88071465T>A"	""	"benign"	""
"0000264555"	"0"	"10"	"12"	"88456570"	"88456570"	"subst"	"4.16285E-5"	"02330"	"CEP290_000176"	"g.88456570G>A"	""	""	""	"CEP290(NM_025114.4):c.6271-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88062793G>A"	""	"benign"	""
"0000264556"	"0"	"10"	"12"	"88453691"	"88453691"	"subst"	"5.02503E-5"	"02330"	"CEP290_000171"	"g.88453691C>T"	""	""	""	"CEP290(NM_025114.4):c.6629G>A (p.R2210H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88059914C>T"	""	"benign"	""
"0000264557"	"0"	"10"	"12"	"88452765"	"88452765"	"subst"	"8.19901E-6"	"02330"	"CEP290_000170"	"g.88452765T>C"	""	""	""	"CEP290(NM_025114.4):c.6678A>G (p.A2226=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88058988T>C"	""	"benign"	""
"0000264558"	"0"	"10"	"12"	"88449343"	"88449343"	"subst"	"0.00071277"	"02330"	"CEP290_000166"	"g.88449343C>T"	""	""	""	"CEP290(NM_025114.4):c.6960+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88055566C>T"	""	"benign"	""
"0000264559"	"0"	"10"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"02330"	"CEP290_000162"	"g.88444154C>A"	""	""	""	"CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88050377C>A"	""	"benign"	""
"0000266672"	"0"	"50"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"02325"	"CEP290_000224"	"g.88514835T>C"	""	""	""	"CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88121058T>C"	""	"VUS"	""
"0000266673"	"0"	"10"	"12"	"88505078"	"88505078"	"subst"	"0.893673"	"02325"	"CEP290_000206"	"g.88505078T>C"	""	""	""	"CEP290(NM_025114.3):c.2268A>G (p.S756=), CEP290(NM_025114.4):c.2268A>G (p.S756=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111301T>C"	""	"benign"	""
"0000266674"	"0"	"50"	"12"	"88533290"	"88533290"	"subst"	"0"	"02325"	"CEP290_000247"	"g.88533290C>T"	""	""	""	"CEP290(NM_025114.4):c.232G>A (p.E78K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88139513C>T"	""	"VUS"	""
"0000266677"	"0"	"90"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"02325"	"CEP290_000058"	"g.88483027G>A"	""	""	""	"CEP290(NM_025114.4):c.3811C>T (p.R1271*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089250G>A"	""	"pathogenic"	""
"0000266678"	"0"	"10"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"02325"	"CEP290_000189"	"g.88472996C>T"	""	""	""	"CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88079219C>T"	""	"benign"	""
"0000266679"	"0"	"10"	"12"	"88454602"	"88454602"	"dup"	"0"	"02325"	"CEP290_000174"	"g.88454602dup"	""	""	""	"CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88060825dup"	""	"benign"	""
"0000266680"	"0"	"50"	"12"	"88452707"	"88452707"	"subst"	"0"	"02325"	"CEP290_000169"	"g.88452707T>C"	""	""	""	"CEP290(NM_025114.4):c.6736A>G (p.K2246E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88058930T>C"	""	"VUS"	""
"0000268097"	"0"	"90"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"02329"	"CEP290_000058"	"g.88483027G>A"	""	""	""	"CEP290(NM_025114.4):c.3811C>T (p.R1271*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089250G>A"	""	"pathogenic"	""
"0000268098"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"02329"	"CEP290_000070"	"g.88477713T>A"	""	""	""	"CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000269976"	"0"	"10"	"12"	"88535167"	"88535167"	"subst"	"0"	"02326"	"CEP290_000251"	"g.88535167T>G"	""	""	""	"CEP290(NM_025114.4):c.-27-56A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88141390T>G"	""	"benign"	""
"0000269977"	"0"	"10"	"12"	"88514026"	"88514026"	"subst"	"0"	"02326"	"CEP290_000222"	"g.88514026C>T"	""	""	""	"CEP290(NM_025114.4):c.1387G>A (p.V463I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120249C>T"	""	"benign"	""
"0000269978"	"0"	"10"	"12"	"88513885"	"88513885"	"subst"	"0.00086176"	"02326"	"CEP290_000218"	"g.88513885G>A"	""	""	""	"CEP290(NM_025114.3):c.1522+6C>T (p.(=)), CEP290(NM_025114.4):c.1522+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120108G>A"	""	"benign"	""
"0000269979"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"02326"	"CEP290_000030"	"g.88512314del"	""	""	""	"CEP290(NM_025114.4):c.1666delA (p.I556Ffs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000269980"	"0"	"30"	"12"	"88512301"	"88512301"	"subst"	"0.000453585"	"02326"	"CEP290_000212"	"g.88512301C>T"	""	""	""	"CEP290(NM_025114.3):c.1670G>A (p.R557H), CEP290(NM_025114.4):c.1670G>A (p.R557H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118524C>T"	""	"likely benign"	""
"0000269982"	"0"	"90"	"12"	"88505095"	"88505095"	"subst"	"0"	"02326"	"CEP290_000046"	"g.88505095G>A"	""	""	""	"CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111318G>A"	""	"pathogenic"	""
"0000269984"	"0"	"10"	"12"	"88496779"	"88496779"	"subst"	"0.00178456"	"02326"	"CEP290_000199"	"g.88496779T>C"	""	""	""	"CEP290(NM_025114.4):c.2827A>G (p.I943V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88103002T>C"	""	"benign"	""
"0000269985"	"0"	"10"	"12"	"88496436"	"88496437"	"del"	"0"	"02326"	"CEP290_000196"	"g.88496436_88496437del"	""	""	""	"CEP290(NM_025114.4):c.2991+195_2991+196delCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88102659_88102660del"	""	"benign"	""
"0000269986"	"0"	"10"	"12"	"88496576"	"88496576"	"subst"	"0.0046544"	"02326"	"CEP290_000197"	"g.88496576T>C"	""	""	""	"CEP290(NM_025114.4):c.2991+39A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88102799T>C"	""	"benign"	""
"0000269988"	"0"	"70"	"12"	"88481663"	"88481663"	"subst"	"2.34192E-5"	"02326"	"CEP290_000190"	"g.88481663C>A"	""	""	""	"CEP290(NM_025114.4):c.4088G>T (p.R1363L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88087886C>A"	""	"likely pathogenic"	""
"0000269989"	"0"	"10"	"12"	"88481632"	"88481632"	"subst"	"0.0366725"	"02326"	"CEP290_000263"	"g.88481632T>C"	""	""	""	"CEP290(NM_025114.3):c.4119A>G (p.K1373=), CEP290(NM_025114.4):c.4119A>G (p.K1373=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88087855T>C"	""	"benign"	""
"0000269990"	"0"	"10"	"12"	"88480115"	"88480115"	"subst"	"0"	"02326"	"CEP290_000291"	"g.88480115G>C"	""	""	""	"CEP290(NM_025114.4):c.4302+53C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88086338G>C"	""	"benign"	""
"0000269991"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"02326"	"CEP290_000066"	"g.88479860G>A"	""	""	""	"CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000269992"	"0"	"10"	"12"	"88525062"	"88525062"	"del"	"0"	"02326"	"CEP290_000241"	"g.88525062del"	""	""	""	"CEP290(NM_025114.4):c.442-54delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88131285del"	""	"benign"	""
"0000269993"	"0"	"90"	"12"	"88479815"	"88479815"	"subst"	"4.63877E-5"	"02326"	"CEP290_000289"	"g.88479815C>T"	""	""	""	"CEP290(NM_025114.4):c.4437+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88086038C>T"	""	"pathogenic"	""
"0000269994"	"0"	"10"	"12"	"88478512"	"88478512"	"subst"	"0.000187141"	"02326"	"CEP290_000285"	"g.88478512T>A"	""	""	""	"CEP290(NM_025114.4):c.4555A>T (p.I1519L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88084735T>A"	""	"benign"	""
"0000269995"	"0"	"90"	"12"	"88476860"	"88476860"	"subst"	"0"	"02326"	"CEP290_000262"	"g.88476860G>A"	""	""	""	"CEP290(NM_025114.4):c.4960C>T (p.Q1654*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083083G>A"	""	"pathogenic"	""
"0000269996"	"0"	"10"	"12"	"88474059"	"88474059"	"subst"	"0"	"02326"	"CEP290_000281"	"g.88474059T>A"	""	""	""	"CEP290(NM_025114.4):c.5126A>T (p.Q1709L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88080282T>A"	""	"benign"	""
"0000269997"	"0"	"10"	"12"	"88524252"	"88524252"	"subst"	"0"	"02326"	"CEP290_000235"	"g.88524252C>T"	""	""	""	"CEP290(NM_025114.4):c.517-55G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88130475C>T"	""	"benign"	""
"0000269998"	"0"	"10"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"02326"	"CEP290_000189"	"g.88472996C>T"	""	""	""	"CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88079219C>T"	""	"benign"	""
"0000269999"	"0"	"10"	"12"	"88472757"	"88472757"	"subst"	"0"	"02326"	"CEP290_000187"	"g.88472757C>T"	""	""	""	"CEP290(NM_025114.4):c.5364+112G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88078980C>T"	""	"benign"	""
"0000270000"	"0"	"10"	"12"	"88471554"	"88471554"	"subst"	"0.00114452"	"02326"	"CEP290_000186"	"g.88471554T>C"	""	""	""	"CEP290(NM_025114.3):c.5506A>G (p.I1836V), CEP290(NM_025114.4):c.5506A>G (p.I1836V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077777T>C"	""	"benign"	""
"0000270001"	"0"	"10"	"12"	"88471219"	"88471219"	"subst"	"0"	"02326"	"CEP290_000185"	"g.88471219T>C"	""	""	""	"CEP290(NM_025114.4):c.5587-98A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077442T>C"	""	"benign"	""
"0000270002"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"02326"	"CEP290_000088"	"g.88471040C>A"	""	""	""	"CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000270003"	"0"	"10"	"12"	"88465242"	"88465242"	"subst"	"2.72884E-5"	"02326"	"CEP290_000182"	"g.88465242T>C"	""	""	""	"CEP290(NM_025114.4):c.5856-16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88071465T>C"	""	"benign"	""
"0000270004"	"0"	"90"	"12"	"88449451"	"88449451"	"del"	"0"	"02326"	"CEP290_000109"	"g.88449451del"	""	""	""	"CEP290(NM_025114.4):c.6869delA (p.N2290Ifs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88055674del"	""	"pathogenic"	""
"0000270005"	"0"	"10"	"12"	"88449289"	"88449289"	"subst"	"0"	"02326"	"CEP290_000165"	"g.88449289T>C"	""	""	""	"CEP290(NM_025114.4):c.6960+64A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88055512T>C"	""	"benign"	""
"0000270006"	"0"	"10"	"12"	"88448076"	"88448076"	"del"	"0"	"02326"	"CEP290_000164"	"g.88448076del"	""	""	""	"CEP290(NM_025114.4):c.7034+50delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88054299del"	""	"benign"	""
"0000270007"	"0"	"30"	"12"	"88443125"	"88443125"	"subst"	"9.14554E-5"	"02326"	"CEP290_000161"	"g.88443125C>T"	""	""	""	"CEP290(NM_025114.3):c.7276G>A (p.(Asp2426Asn)), CEP290(NM_025114.4):c.7276G>A (p.D2426N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88049348C>T"	""	"likely benign"	""
"0000270008"	"0"	"30"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"02326"	"CEP290_000022"	"g.88523494C>G"	""	""	""	"CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88129717C>G"	""	"likely benign"	""
"0000273209"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"01943"	"CEP290_000026"	"g.88514915_88514916del"	""	""	""	"CEP290(NM_025114.3):c.1219_1220delAT (p.M407Efs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	""
"0000273210"	"0"	"90"	"12"	"88513993"	"88513997"	"del"	"0"	"01943"	"CEP290_000027"	"g.88513993_88513997del"	""	""	""	"CEP290(NM_025114.3):c.1419_1423delAATAA (p.I474Rfs*5), CEP290(NM_025114.4):c.1419_1423delAATAA (p.I474Rfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120216_88120220del"	""	"pathogenic"	""
"0000273211"	"0"	"90"	"12"	"88513912"	"88513912"	"subst"	"0"	"01943"	"CEP290_000219"	"g.88513912C>A"	""	""	""	"CEP290(NM_025114.3):c.1501G>T (p.E501*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120135C>A"	""	"pathogenic"	""
"0000273212"	"0"	"90"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"01943"	"CEP290_000033"	"g.88512326G>A"	""	""	""	"CEP290(NM_025114.3):c.1645C>T (p.R549*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118549G>A"	""	"pathogenic"	""
"0000273214"	"0"	"30"	"12"	"88510905"	"88510905"	"subst"	"0.000309424"	"01943"	"CEP290_000210"	"g.88510905G>A"	""	""	""	"CEP290(NM_025114.3):c.1729C>T (p.L577=), CEP290(NM_025114.4):c.1729C>T (p.L577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88117128G>A"	""	"likely benign"	""
"0000273215"	"0"	"30"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"01943"	"CEP290_000007"	"g.88508258T>C"	""	""	""	"CEP290(NM_025114.3):c.1991A>G (p.D664G, p.(Asp664Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88114481T>C"	""	"likely benign"	""
"0000273216"	"0"	"90"	"12"	"88505124"	"88505132"	"del"	"0"	"01943"	"CEP290_000207"	"g.88505124_88505132del"	""	""	""	"CEP290(NM_025114.3):c.2218-1_2225delGATAGACCA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111347_88111355del"	""	"pathogenic"	""
"0000273217"	"0"	"10"	"12"	"88505078"	"88505078"	"subst"	"0.893673"	"01943"	"CEP290_000206"	"g.88505078T>C"	""	""	""	"CEP290(NM_025114.3):c.2268A>G (p.S756=), CEP290(NM_025114.4):c.2268A>G (p.S756=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111301T>C"	""	"benign"	""
"0000273218"	"0"	"50"	"12"	"88502844"	"88502844"	"subst"	"0"	"01943"	"CEP290_000205"	"g.88502844T>A"	""	""	""	"CEP290(NM_025114.3):c.2482A>T (p.S828C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88109067T>A"	""	"VUS"	""
"0000273219"	"0"	"10"	"12"	"88532978"	"88532978"	"subst"	"0.00538"	"01943"	"CEP290_000245"	"g.88532978T>A"	""	""	""	"CEP290(NM_025114.3):c.251-10A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88139201T>A"	""	"benign"	""
"0000273220"	"0"	"10"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"01943"	"CEP290_000048"	"g.88500847T>C"	""	""	""	"CEP290(NM_025114.3):c.2512A>G (p.K838E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88107070T>C"	""	"benign"	""
"0000273221"	"0"	"30"	"12"	"88500578"	"88500578"	"subst"	"8.37696E-6"	"01943"	"CEP290_000201"	"g.88500578T>C"	""	""	""	"CEP290(NM_025114.3):c.2691A>G (p.I897M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88106801T>C"	""	"likely benign"	""
"0000273222"	"0"	"30"	"12"	"88500448"	"88500448"	"subst"	"8.83002E-6"	"01943"	"CEP290_000200"	"g.88500448G>A"	""	""	""	"CEP290(NM_025114.3):c.2817+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88106671G>A"	""	"likely benign"	""
"0000273224"	"0"	"50"	"12"	"88530520"	"88530520"	"subst"	"0.000162688"	"01943"	"CEP290_000244"	"g.88530520C>T"	""	""	""	"CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88136743C>T"	""	"VUS"	""
"0000273225"	"0"	"90"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"01943"	"CEP290_000243"	"g.88530494G>A"	""	""	""	"CEP290(NM_025114.3):c.367C>T (p.Q123*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88136717G>A"	""	"pathogenic"	""
"0000273226"	"0"	"50"	"12"	"88481664"	"88481664"	"subst"	"0.00305825"	"01943"	"CEP290_000191"	"g.88481664G>A"	""	""	""	"CEP290(NM_025114.3):c.4087C>T (p.R1363W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88087887G>A"	""	"VUS"	""
"0000273227"	"0"	"30"	"12"	"88481632"	"88481632"	"subst"	"0.0366725"	"01943"	"CEP290_000263"	"g.88481632T>C"	""	""	""	"CEP290(NM_025114.3):c.4119A>G (p.K1373=), CEP290(NM_025114.4):c.4119A>G (p.K1373=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88087855T>C"	""	"likely benign"	""
"0000273228"	"0"	"50"	"12"	"88480178"	"88480178"	"subst"	"0"	"01943"	"CEP290_000292"	"g.88480178G>A"	""	""	""	"CEP290(NM_025114.3):c.4292C>T (p.A1431V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88086401G>A"	""	"VUS"	""
"0000273229"	"0"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"01943"	"CEP290_000001"	"g.88524986G>A"	""	""	""	"CEP290(NM_025114.3):c.451C>T (p.R151*, p.(Arg151*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88131209G>A"	""	"pathogenic"	""
"0000273230"	"0"	"90"	"12"	"88478545"	"88478545"	"subst"	"8.14936E-6"	"01943"	"CEP290_000286"	"g.88478545G>A"	""	""	""	"CEP290(NM_025114.3):c.4522C>T (p.R1508*), CEP290(NM_025114.4):c.4522C>T (p.R1508*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88084768G>A"	""	"pathogenic"	""
"0000273231"	"0"	"30"	"12"	"88478465"	"88478465"	"subst"	"0"	"01943"	"CEP290_000283"	"g.88478465T>G"	""	""	""	"CEP290(NM_025114.3):c.4602A>C (p.T1534=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88084688T>G"	""	"likely benign"	""
"0000273232"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"01943"	"CEP290_000070"	"g.88477713T>A"	""	""	""	"CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000273233"	"0"	"30"	"12"	"88477630"	"88477630"	"subst"	"0.000868289"	"01943"	"CEP290_000073"	"g.88477630C>T"	""	""	""	"CEP290(NM_025114.3):c.4806G>A (p.T1602=), CEP290(NM_025114.4):c.4806G>A (p.T1602=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083853C>T"	""	"likely benign"	""
"0000273234"	"0"	"50"	"12"	"88524370"	"88524370"	"subst"	"0"	"01943"	"CEP290_000237"	"g.88524370T>C"	""	""	""	"CEP290(NM_025114.3):c.496-28A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88130593T>C"	""	"VUS"	""
"0000273235"	"0"	"30"	"12"	"88524335"	"88524335"	"subst"	"0.000282433"	"01943"	"CEP290_000236"	"g.88524335C>T"	""	""	""	"CEP290(NM_025114.3):c.503G>A (p.R168H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88130558C>T"	""	"likely benign"	""
"0000273236"	"0"	"50"	"12"	"88474058"	"88474058"	"subst"	"0.000170807"	"01943"	"CEP290_000280"	"g.88474058C>A"	""	""	""	"CEP290(NM_025114.3):c.5127G>T (p.Q1709H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88080281C>A"	""	"VUS"	""
"0000273237"	"0"	"50"	"12"	"88524191"	"88524191"	"subst"	"0.000186935"	"01943"	"CEP290_000234"	"g.88524191G>T"	""	""	""	"CEP290(NM_025114.3):c.523C>A (p.Q175K), CEP290(NM_025114.4):c.523C>A (p.(Gln175Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88130414G>T"	""	"VUS"	""
"0000273238"	"0"	"30"	"12"	"88472911"	"88472911"	"subst"	"0.00351665"	"01943"	"CEP290_000188"	"g.88472911G>A"	""	""	""	"CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88079134G>A"	""	"likely benign"	""
"0000273239"	"0"	"30"	"12"	"88471047"	"88471047"	"subst"	"0"	"01943"	"CEP290_000183"	"g.88471047T>C"	""	""	""	"CEP290(NM_025114.3):c.5661A>G (p.Q1887=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077270T>C"	""	"likely benign"	""
"0000273240"	"0"	"50"	"12"	"88462318"	"88462318"	"subst"	"0.000307421"	"01943"	"CEP290_000178"	"g.88462318T>C"	""	""	""	"CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88068541T>C"	""	"VUS"	""
"0000273242"	"0"	"30"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"01943"	"CEP290_000162"	"g.88444154C>A"	""	""	""	"CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88050377C>A"	""	"likely benign"	""
"0000273243"	"0"	"50"	"12"	"88523601"	"88523601"	"subst"	"2.16001E-5"	"01943"	"CEP290_000233"	"g.88523601T>C"	""	""	""	"CEP290(NM_025114.3):c.722A>G (p.K241R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88129824T>C"	""	"VUS"	""
"0000273244"	"0"	"30"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"01943"	"CEP290_000022"	"g.88523494C>G"	""	""	""	"CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88129717C>G"	""	"likely benign"	""
"0000273245"	"0"	"30"	"12"	"88534986"	"88534986"	"subst"	"0"	"01943"	"CEP290_000249"	"g.88534986G>A"	""	""	""	"CEP290(NM_025114.3):c.99C>T (p.S33=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88141209G>A"	""	"likely benign"	""
"0000323004"	"0"	"50"	"12"	"88442144"	"88442144"	"dup"	"0"	"01804"	"C12orf29_000002"	"g.88442144dup"	""	""	""	"C12orf29(NM_001009894.2):c.917_918insT (p.(Leu308PhefsTer5))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88048367dup"	""	"VUS"	""
"0000323005"	"0"	"50"	"12"	"88443094"	"88443096"	"dup"	"0"	"01804"	"CEP290_000160"	"g.88443094_88443096dup"	""	""	""	"CEP290(NM_025114.3):c.7313_7314insGAA (p.(Lys2437dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88049317_88049319dup"	""	"VUS"	""
"0000323006"	"0"	"50"	"12"	"88447432"	"88447432"	"subst"	"4.83623E-5"	"01804"	"CEP290_000163"	"g.88447432G>A"	""	""	""	"CEP290(NM_025114.3):c.7126C>T (p.(Pro2376Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88053655G>A"	""	"VUS"	""
"0000323007"	"0"	"50"	"12"	"88449451"	"88449451"	"dup"	"0"	"01804"	"CEP290_000168"	"g.88449451dup"	""	""	""	"CEP290(NM_025114.3):c.6869_6870insA (p.(Asn2290LysfsTer6))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88055674dup"	""	"VUS"	""
"0000323008"	"0"	"50"	"12"	"88453750"	"88453750"	"subst"	"0"	"01804"	"CEP290_000172"	"g.88453750C>T"	""	""	""	"CEP290(NM_025114.3):c.6570G>A (p.M2190I), CEP290(NM_025114.4):c.6570G>A (p.(Met2190Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88059973C>T"	""	"VUS"	""
"0000323009"	"0"	"30"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"01804"	"CEP290_000175"	"g.88454728A>G"	""	""	""	"CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88060951A>G"	""	"likely benign"	""
"0000323011"	"0"	"50"	"12"	"88465084"	"88465084"	"subst"	"0.000146268"	"01804"	"CEP290_000180"	"g.88465084T>C"	""	""	""	"CEP290(NM_025114.3):c.5998A>G (p.(Ile2000Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88071307T>C"	""	"VUS"	""
"0000323015"	"0"	"50"	"12"	"88496643"	"88496643"	"subst"	"0"	"01804"	"CEP290_000198"	"g.88496643T>C"	""	""	""	"CEP290(NM_025114.3):c.2963A>G (p.(Gln988Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88102866T>C"	""	"VUS"	""
"0000323019"	"0"	"50"	"12"	"88505095"	"88505095"	"subst"	"0"	"01804"	"CEP290_000046"	"g.88505095G>A"	""	""	""	"CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111318G>A"	""	"VUS"	""
"0000323021"	"0"	"30"	"12"	"88512485"	"88512485"	"subst"	"0.00148363"	"01804"	"CEP290_000216"	"g.88512485A>G"	""	""	""	"CEP290(NM_025114.3):c.1558T>C (p.(Phe520Leu)), CEP290(NM_025114.4):c.1558T>C (p.F520L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118708A>G"	""	"likely benign"	""
"0000323022"	"0"	"50"	"12"	"88513977"	"88513977"	"subst"	"0"	"01804"	"CEP290_000220"	"g.88513977A>G"	""	""	""	"CEP290(NM_025114.3):c.1436T>C (p.(Ile479Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120200A>G"	""	"VUS"	""
"0000323024"	"0"	"50"	"12"	"88519120"	"88519120"	"subst"	"0.000998676"	"01804"	"CEP290_000226"	"g.88519120A>C"	""	""	""	"CEP290(NM_025114.3):c.1092T>G (p.I364M, p.(Ile364Met)), CEP290(NM_025114.4):c.1092T>G (p.I364M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88125343A>C"	""	"VUS"	""
"0000323025"	"0"	"50"	"12"	"88520195"	"88520195"	"subst"	"4.80371E-5"	"01804"	"CEP290_000227"	"g.88520195A>T"	""	""	""	"CEP290(NM_025114.3):c.963T>A (p.(Asp321Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88126418A>T"	""	"VUS"	""
"0000323027"	"0"	"50"	"12"	"88523485"	"88523485"	"subst"	"9.65759E-5"	"01804"	"CEP290_000230"	"g.88523485G>A"	""	""	""	"CEP290(NM_025114.3):c.838C>T (p.(His280Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88129708G>A"	""	"VUS"	""
"0000338843"	"0"	"10"	"12"	"88454602"	"88454602"	"dup"	"0"	"02327"	"CEP290_000137"	"g.88454602dup"	""	""	""	"CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88060825dup"	""	"benign"	""
"0000338845"	"0"	"10"	"12"	"88525014"	"88525014"	"subst"	"0"	"02327"	"CEP290_000240"	"g.88525014A>T"	""	""	""	"CEP290(NM_025114.3):c.442-19T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88131237A>T"	""	"benign"	""
"0000340504"	"0"	"10"	"12"	"88481632"	"88481632"	"subst"	"0.0366725"	"02327"	"CEP290_000263"	"g.88481632T>C"	""	""	""	"CEP290(NM_025114.3):c.4119A>G (p.K1373=), CEP290(NM_025114.4):c.4119A>G (p.K1373=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88087855T>C"	""	"benign"	""
"0000341553"	"0"	"10"	"12"	"88505633"	"88505633"	"subst"	"0.138346"	"02327"	"CEP290_000041"	"g.88505633A>G"	""	""	""	"CEP290(NM_025114.3):c.2055T>C (p.A685=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111856A>G"	""	"benign"	""
"0000341590"	"0"	"50"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"02327"	"CEP290_000276"	"g.88533296C>T"	""	""	""	"CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88139519C>T"	""	"VUS"	""
"0000341803"	"0"	"10"	"12"	"88483128"	"88483128"	"subst"	"0.0118974"	"02327"	"CEP290_000267"	"g.88483128C>T"	""	""	""	"CEP290(NM_025114.3):c.3710G>A (p.(Arg1237His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089351C>T"	""	"benign"	""
"0000341873"	"0"	"50"	"12"	"88481688"	"88481688"	"subst"	"0"	"02327"	"CEP290_000264"	"g.88481688G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88087911G>A"	""	"VUS"	""
"0000341942"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"02327"	"CEP290_000066"	"g.88479860G>A"	""	""	""	"CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000342081"	"0"	"10"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"02327"	"CEP290_000189"	"g.88472996C>T"	""	""	""	"CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88079219C>T"	""	"benign"	""
"0000342297"	"0"	"50"	"12"	"88453692"	"88453692"	"subst"	"0.000168996"	"02327"	"CEP290_000254"	"g.88453692G>A"	""	""	""	"CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88059915G>A"	""	"VUS"	""
"0000342727"	"0"	"30"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"02327"	"CEP290_000149"	"g.88519133C>T"	""	""	""	"CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88125356C>T"	""	"likely benign"	""
"0000343031"	"0"	"90"	"12"	"88513900"	"88513903"	"del"	"0"	"02327"	"CEP290_000273"	"g.88513900_88513903del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88120123_88120126del"	""	"pathogenic"	""
"0000343338"	"0"	"90"	"12"	"88505095"	"88505095"	"subst"	"0"	"02327"	"CEP290_000046"	"g.88505095G>A"	""	""	""	"CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88111318G>A"	""	"pathogenic"	""
"0000343394"	"0"	"50"	"12"	"88502880"	"88502880"	"subst"	"0"	"02327"	"CEP290_000271"	"g.88502880G>A"	""	""	""	"CEP290(NM_025114.3):c.2446C>T (p.R816C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88109103G>A"	""	"VUS"	""
"0000344097"	"0"	"50"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"02327"	"CEP290_000224"	"g.88514835T>C"	""	""	""	"CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88121058T>C"	""	"VUS"	""
"0000344592"	"0"	"90"	"12"	"88476860"	"88476860"	"subst"	"0"	"02327"	"CEP290_000262"	"g.88476860G>A"	""	""	""	"CEP290(NM_025114.4):c.4960C>T (p.Q1654*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083083G>A"	""	"pathogenic"	""
"0000344682"	"0"	"90"	"12"	"88447510"	"88447510"	"subst"	"0"	"02327"	"CEP290_000253"	"g.88447510G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88053733G>A"	""	"pathogenic"	""
"0000344899"	"0"	"90"	"12"	"88512290"	"88512290"	"subst"	"0"	"02327"	"CEP290_000272"	"g.88512290G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88118513G>A"	""	"pathogenic"	""
"0000345284"	"0"	"70"	"12"	"88443077"	"88443077"	"subst"	"0"	"02327"	"CEP290_000252"	"g.88443077C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88049300C>A"	""	"likely pathogenic"	""
"0000345818"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"02327"	"CEP290_000088"	"g.88471040C>A"	""	""	""	"CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000346411"	"0"	"50"	"12"	"88453773"	"88453773"	"subst"	"0"	"02327"	"CEP290_000255"	"g.88453773G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88059996G>A"	""	"VUS"	""
"0000346872"	"0"	"50"	"12"	"88482960"	"88482960"	"subst"	"0"	"02327"	"CEP290_000266"	"g.88482960A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88089183A>C"	""	"VUS"	""
"0000347429"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"02327"	"CEP290_000070"	"g.88477713T>A"	""	""	""	"CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000347522"	"0"	"50"	"12"	"88520199"	"88520199"	"subst"	"0"	"02327"	"CEP290_000274"	"g.88520199T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88126422T>C"	""	"VUS"	""
"0000347659"	"0"	"10"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"02327"	"CEP290_000048"	"g.88500847T>C"	""	""	""	"CEP290(NM_025114.3):c.2512A>G (p.K838E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88107070T>C"	""	"benign"	""
"0000349361"	"0"	"50"	"12"	"88454731"	"88454731"	"subst"	"1.73402E-5"	"02327"	"CEP290_000256"	"g.88454731G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88060954G>T"	""	"VUS"	""
"0000350778"	"0"	"90"	"12"	"88454772"	"88454781"	"del"	"0"	"02327"	"CEP290_000257"	"g.88454772_88454781del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88060995_88061004del"	""	"pathogenic"	""
"0000351400"	"0"	"10"	"12"	"88456449"	"88456449"	"subst"	"0.0123159"	"02327"	"CEP290_000258"	"g.88456449T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88062672T>A"	""	"benign"	""
"0000351401"	"0"	"10"	"12"	"88470981"	"88470981"	"subst"	"0.0119419"	"02327"	"CEP290_000259"	"g.88470981G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077204G>T"	""	"benign"	""
"0000351402"	"0"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"02327"	"CEP290_000133"	"g.88471122C>G"	""	""	""	"CEP290(NM_025114.4):c.5587-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88077345C>G"	""	"pathogenic"	""
"0000351405"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"02327"	"CEP290_000002"	"g.88494960T>C"	""	""	""	"CEP290(NM_025114.4):c.2991+1655A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000351411"	"0"	"10"	"12"	"88535682"	"88535682"	"subst"	"0"	"02327"	"CEP290_000277"	"g.88535682C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.88141905C>A"	""	"benign"	""
"0000358194"	"3"	"90"	"12"	"88465625"	"88465625"	"subst"	"0"	"01243"	"CEP290_000278"	"g.88465625T>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071848T>A"	""	"pathogenic"	""
"0000358195"	"3"	"90"	"12"	"88477665"	"88477665"	"subst"	"0"	"01243"	"CEP290_000072"	"g.88477665G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083888G>A"	""	"pathogenic"	""
"0000358196"	"11"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"01243"	"CEP290_000066"	"g.88479860G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000358197"	"3"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"01243"	"CEP290_000030"	"g.88512314del"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000358416"	"21"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"01243"	"CEP290_000030"	"g.88512314del"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000438396"	"1"	"90"	"12"	"88487733"	"88487733"	"dup"	"0"	"01244"	"CEP290_000294"	"g.88487733dup"	""	""	""	"3123dupT"	""	"Germline"	""	""	"0"	""	""	"g.88093956dup"	""	"pathogenic (recessive)"	""
"0000438398"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"01244"	"CEP290_000002"	"g.88494960T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000438399"	"1"	"90"	"12"	"88512450"	"88512450"	"subst"	"8.13319E-6"	"01244"	"CEP290_000004"	"g.88512450G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118673G>T"	""	"pathogenic"	""
"0000438400"	"2"	"90"	"12"	"88477732"	"88477732"	"subst"	"3.49078E-5"	"01244"	"CEP290_000009"	"g.88477732C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083955C>A"	""	"pathogenic (recessive)"	""
"0000438407"	"1"	"90"	"12"	"88465622"	"88465626"	"del"	"0"	"01244"	"CEP290_000295"	"g.88465622_88465626del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071845_88071849del"	""	"pathogenic (recessive)"	""
"0000438408"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"01244"	"CEP290_000002"	"g.88494960T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000438543"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"01244"	"CEP290_000002"	"g.88494960T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000438544"	"2"	"90"	"12"	"88513964"	"88513964"	"del"	"0"	"01244"	"CEP290_000143"	"g.88513964del"	""	""	""	"1451delA"	""	"Germline"	""	""	"0"	""	""	"g.88120187del"	""	"pathogenic"	""
"0000438628"	"1"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"01244"	"CEP290_000066"	"g.88479860G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000438629"	"2"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"01244"	"CEP290_000133"	"g.88471122C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88077345C>G"	""	"pathogenic"	""
"0000438638"	"1"	"90"	"12"	"88512450"	"88512450"	"subst"	"8.13319E-6"	"01244"	"CEP290_000004"	"g.88512450G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118673G>T"	""	"pathogenic"	""
"0000438639"	"2"	"90"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"01244"	"CEP290_000296"	"g.88465636C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071859C>G"	""	"pathogenic"	""
"0000487547"	"3"	"90"	"12"	"88500664"	"88500664"	"subst"	"1.28142E-5"	"03335"	"CEP290_000297"	"g.88500664G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88106887G>A"	""	"pathogenic (recessive)"	""
"0000549305"	"0"	"30"	"12"	"88442951"	"88442951"	"subst"	"0"	"02330"	"CEP290_000298"	"g.88442951T>C"	""	""	""	"CEP290(NM_025114.4):c.*10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88049174T>C"	""	"likely benign"	""
"0000549306"	"0"	"50"	"12"	"88443008"	"88443009"	"del"	"0"	"01804"	"CEP290_000299"	"g.88443008_88443009del"	""	""	""	"CEP290(NM_025114.3):c.7394_7395del (p.(Glu2465ValfsTer2)), CEP290(NM_025114.4):c.7394_7395delAG (p.E2465Vfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88049231_88049232del"	""	"VUS"	""
"0000549307"	"0"	"50"	"12"	"88443053"	"88443053"	"subst"	"0"	"02330"	"CEP290_000300"	"g.88443053C>A"	""	""	""	"C12orf29(NM_001009894.3):c.*854C>A, CEP290(NM_025114.4):c.7348G>T (p.E2450*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88049276C>A"	""	"VUS"	""
"0000549309"	"0"	"50"	"12"	"88443187"	"88443187"	"subst"	"0"	"02329"	"CEP290_000302"	"g.88443187T>G"	""	""	""	"CEP290(NM_025114.4):c.7214A>C (p.E2405A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88049410T>G"	""	"VUS"	""
"0000549310"	"0"	"10"	"12"	"88447371"	"88447371"	"del"	"0"	"02326"	"CEP290_000303"	"g.88447371del"	""	""	""	"CEP290(NM_025114.4):c.7129+73delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88053594del"	""	"benign"	""
"0000549311"	"0"	"30"	"12"	"88447488"	"88447488"	"subst"	"2.34486E-5"	"01943"	"CEP290_000304"	"g.88447488T>C"	""	""	""	"CEP290(NM_025114.3):c.7070A>G (p.E2357G), CEP290(NM_025114.4):c.7070A>G (p.(Glu2357Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88053711T>C"	""	"likely benign"	""
"0000549312"	"0"	"30"	"12"	"88448147"	"88448147"	"subst"	"0"	"01804"	"CEP290_000305"	"g.88448147T>C"	""	""	""	"CEP290(NM_025114.3):c.7004A>G (p.(Gln2335Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88054370T>C"	""	"likely benign"	""
"0000549313"	"0"	"30"	"12"	"88452637"	"88452637"	"subst"	"0.000219601"	"01943"	"CEP290_000306"	"g.88452637A>G"	""	""	""	"CEP290(NM_025114.3):c.6806T>C (p.I2269T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88058860A>G"	""	"likely benign"	""
"0000549314"	"0"	"70"	"12"	"88453692"	"88453692"	"subst"	"0.000168996"	"01943"	"CEP290_000254"	"g.88453692G>A"	""	""	""	"CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88059915G>A"	""	"likely pathogenic"	""
"0000549315"	"0"	"50"	"12"	"88453692"	"88453692"	"subst"	"0.000168996"	"01804"	"CEP290_000254"	"g.88453692G>A"	""	""	""	"CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88059915G>A"	""	"VUS"	""
"0000549316"	"0"	"50"	"12"	"88453692"	"88453692"	"subst"	"0.000168996"	"02325"	"CEP290_000254"	"g.88453692G>A"	""	""	""	"CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88059915G>A"	""	"VUS"	""
"0000549317"	"0"	"50"	"12"	"88453692"	"88453692"	"subst"	"0.000168996"	"02326"	"CEP290_000254"	"g.88453692G>A"	""	""	""	"CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88059915G>A"	""	"VUS"	""
"0000549319"	"0"	"30"	"12"	"88453762"	"88453762"	"subst"	"1.57178E-5"	"01943"	"CEP290_000307"	"g.88453762A>C"	""	""	""	"CEP290(NM_025114.3):c.6558T>G (p.H2186Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88059985A>C"	""	"likely benign"	""
"0000549320"	"0"	"10"	"12"	"88454602"	"88454602"	"dup"	"0"	"01943"	"CEP290_000174"	"g.88454602dup"	""	""	""	"CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88060825dup"	""	"benign"	""
"0000549321"	"0"	"30"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"02330"	"CEP290_000175"	"g.88454728A>G"	""	""	""	"CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88060951A>G"	""	"likely benign"	""
"0000549322"	"0"	"30"	"12"	"88457793"	"88457793"	"subst"	"0"	"01943"	"CEP290_000308"	"g.88457793G>T"	""	""	""	"CEP290(NM_025114.3):c.6235C>A (p.L2079I, p.(Leu2079Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88064016G>T"	""	"likely benign"	""
"0000549323"	"0"	"10"	"12"	"88457866"	"88457866"	"subst"	"0"	"02330"	"CEP290_000309"	"g.88457866A>G"	""	""	""	"CEP290(NM_025114.4):c.6162T>C (p.H2054=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88064089A>G"	""	"benign"	""
"0000549324"	"0"	"50"	"12"	"88457886"	"88457886"	"subst"	"3.53991E-5"	"02325"	"CEP290_000310"	"g.88457886C>G"	""	""	""	"CEP290(NM_025114.4):c.6142G>C (p.G2048R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88064109C>G"	""	"VUS"	""
"0000549325"	"0"	"10"	"12"	"88457911"	"88457911"	"subst"	"0.00040645"	"02330"	"CEP290_000311"	"g.88457911A>C"	""	""	""	"CEP290(NM_025114.4):c.6136-19T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88064134A>C"	""	"benign"	""
"0000549326"	"0"	"50"	"12"	"88462336"	"88462336"	"subst"	"4.40859E-6"	"01943"	"CEP290_000312"	"g.88462336T>C"	""	""	""	"CEP290(NM_025114.3):c.6098A>G (p.E2033G, p.(Glu2033Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88068559T>C"	""	"VUS"	""
"0000549328"	"0"	"50"	"12"	"88462400"	"88462400"	"subst"	"0"	"02327"	"CEP290_000314"	"g.88462400C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88068623C>A"	""	"VUS"	""
"0000549329"	"0"	"50"	"12"	"88462402"	"88462402"	"subst"	"4.37411E-6"	"02327"	"CEP290_000315"	"g.88462402C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88068625C>T"	""	"VUS"	""
"0000549330"	"0"	"30"	"12"	"88465177"	"88465177"	"subst"	"0"	"01804"	"CEP290_000316"	"g.88465177T>C"	""	""	""	"CEP290(NM_025114.3):c.5905A>G (p.(Met1969Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88071400T>C"	""	"likely benign"	""
"0000549332"	"0"	"50"	"12"	"88471477"	"88471477"	"subst"	"0"	"02330"	"CEP290_000318"	"g.88471477T>G"	""	""	""	"CEP290(NM_025114.4):c.5583A>C (p.L1861F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88077700T>G"	""	"VUS"	""
"0000549333"	"0"	"10"	"12"	"88471554"	"88471554"	"subst"	"0.00114452"	"01943"	"CEP290_000186"	"g.88471554T>C"	""	""	""	"CEP290(NM_025114.3):c.5506A>G (p.I1836V), CEP290(NM_025114.4):c.5506A>G (p.I1836V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88077777T>C"	""	"benign"	""
"0000549334"	"0"	"90"	"12"	"88472889"	"88472889"	"subst"	"2.63532E-5"	"02327"	"CEP290_000083"	"g.88472889G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079112G>A"	""	"pathogenic"	""
"0000549335"	"0"	"50"	"12"	"88472895"	"88472895"	"subst"	"0.000117942"	"01943"	"CEP290_000319"	"g.88472895C>T"	""	""	""	"CEP290(NM_025114.3):c.5338G>A (p.V1780I), CEP290(NM_025114.4):c.5338G>A (p.V1780I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079118C>T"	""	"VUS"	""
"0000549336"	"0"	"50"	"12"	"88472909"	"88472909"	"subst"	"0"	"02330"	"CEP290_000320"	"g.88472909T>C"	""	""	""	"CEP290(NM_025114.4):c.5324A>G (p.N1775S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079132T>C"	""	"VUS"	""
"0000549338"	"0"	"30"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"01804"	"CEP290_000189"	"g.88472996C>T"	""	""	""	"CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079219C>T"	""	"likely benign"	""
"0000549339"	"0"	"10"	"12"	"88473029"	"88473029"	"dup"	"0"	"02330"	"CEP290_000322"	"g.88473029dup"	""	""	""	"CEP290(NM_025114.4):c.5227-14dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079252dup"	""	"benign"	""
"0000549340"	"0"	"10"	"12"	"88473029"	"88473029"	"dup"	"0"	"02326"	"CEP290_000322"	"g.88473029dup"	""	""	""	"CEP290(NM_025114.4):c.5227-14dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079252dup"	""	"benign"	""
"0000549341"	"0"	"10"	"12"	"88473986"	"88473986"	"subst"	"0.00185222"	"02330"	"CEP290_000323"	"g.88473986T>C"	""	""	""	"CEP290(NM_025114.4):c.5199A>G (p.Q1733=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88080209T>C"	""	"benign"	""
"0000549342"	"0"	"50"	"12"	"88474030"	"88474030"	"subst"	"0"	"01943"	"CEP290_000324"	"g.88474030G>C"	""	""	""	"CEP290(NM_025114.3):c.5155C>G (p.P1719A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88080253G>C"	""	"VUS"	""
"0000549343"	"0"	"30"	"12"	"88474130"	"88474130"	"subst"	"0.000117903"	"02330"	"CEP290_000325"	"g.88474130C>T"	""	""	""	"CEP290(NM_025114.4):c.5055G>A (p.A1685=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88080353C>T"	""	"likely benign"	""
"0000549344"	"0"	"30"	"12"	"88477004"	"88477004"	"subst"	"0"	"02330"	"CEP290_000327"	"g.88477004A>G"	""	""	""	"CEP290(NM_025114.4):c.4816T>C (p.L1606=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88083227A>G"	""	"likely benign"	""
"0000549345"	"0"	"50"	"12"	"88477682"	"88477682"	"subst"	"0.00013673"	"01943"	"CEP290_000328"	"g.88477682T>C"	""	""	""	"CEP290(NM_025114.3):c.4754A>G (p.H1585R), CEP290(NM_025114.4):c.4754A>G (p.(His1585Arg), p.H1585R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88083905T>C"	""	"VUS"	""
"0000549347"	"0"	"90"	"12"	"88477732"	"88477732"	"subst"	"3.49078E-5"	"02327"	"CEP290_000009"	"g.88477732C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88083955C>A"	""	"pathogenic"	""
"0000549348"	"0"	"90"	"12"	"88478410"	"88478412"	"del"	"0"	"01943"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	"CEP290(NM_025114.3):c.4661_4663delAAG (p.E1554del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88084633_88084635del"	""	"pathogenic"	""
"0000549350"	"0"	"30"	"12"	"88478636"	"88478636"	"subst"	"2.84184E-5"	"01804"	"CEP290_000288"	"g.88478636T>C"	""	""	""	"CEP290(NM_025114.3):c.4438-7A>G (p.(=)), CEP290(NM_025114.4):c.4438-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88084859T>C"	""	"likely benign"	""
"0000549351"	"0"	"30"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"02330"	"CEP290_000330"	"g.88480233C>G"	""	""	""	"CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086456C>G"	""	"likely benign"	""
"0000549352"	"0"	"50"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"01943"	"CEP290_000330"	"g.88480233C>G"	""	""	""	"CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086456C>G"	""	"VUS"	""
"0000549353"	"0"	"30"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"01804"	"CEP290_000330"	"g.88480233C>G"	""	""	""	"CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086456C>G"	""	"likely benign"	""
"0000549354"	"0"	"10"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"02326"	"CEP290_000330"	"g.88480233C>G"	""	""	""	"CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086456C>G"	""	"benign"	""
"0000549356"	"0"	"10"	"12"	"88481664"	"88481664"	"subst"	"2.3525E-5"	"02330"	"CEP290_000331"	"g.88481664G>T"	""	""	""	"CEP290(NM_025114.4):c.4087C>A (p.R1363=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88087887G>T"	""	"benign"	""
"0000549358"	"0"	"50"	"12"	"88482985"	"88482985"	"subst"	"4.08213E-6"	"01804"	"CEP290_000333"	"g.88482985T>C"	""	""	""	"CEP290(NM_025114.3):c.3853A>G (p.(Lys1285Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88089208T>C"	""	"VUS"	""
"0000549359"	"0"	"50"	"12"	"88483012"	"88483012"	"subst"	"1.62674E-5"	"01943"	"CEP290_000334"	"g.88483012C>T"	""	""	""	"CEP290(NM_025114.3):c.3826G>A (p.G1276R), CEP290(NM_025114.4):c.3826G>A (p.(Gly1276Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88089235C>T"	""	"VUS"	""
"0000549360"	"0"	"50"	"12"	"88483048"	"88483048"	"subst"	"0.000499655"	"01943"	"CEP290_000335"	"g.88483048G>A"	""	""	""	"CEP290(NM_025114.3):c.3790C>T (p.R1264C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88089271G>A"	""	"VUS"	""
"0000549361"	"0"	"10"	"12"	"88483128"	"88483128"	"subst"	"0.0118974"	"01804"	"CEP290_000267"	"g.88483128C>T"	""	""	""	"CEP290(NM_025114.3):c.3710G>A (p.(Arg1237His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88089351C>T"	""	"benign"	""
"0000549362"	"0"	"30"	"12"	"88483184"	"88483184"	"subst"	"0.00151739"	"02330"	"CEP290_000193"	"g.88483184A>G"	""	""	""	"CEP290(NM_025114.3):c.3654T>C (p.L1218=), CEP290(NM_025114.4):c.3654T>C (p.L1218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88089407A>G"	""	"likely benign"	""
"0000549363"	"0"	"50"	"12"	"88484502"	"88484502"	"subst"	"5.5959E-5"	"01943"	"CEP290_000336"	"g.88484502T>C"	""	""	""	"CEP290(NM_025114.3):c.3573+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88090725T>C"	""	"VUS"	""
"0000549364"	"0"	"10"	"12"	"88484613"	"88484613"	"subst"	"0.00168646"	"02330"	"CEP290_000337"	"g.88484613C>T"	""	""	""	"CEP290(NM_025114.4):c.3465G>A (p.L1155=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88090836C>T"	""	"benign"	""
"0000549365"	"0"	"90"	"12"	"88486457"	"88486457"	"subst"	"0"	"02327"	"CEP290_000338"	"g.88486457C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88092680C>T"	""	"pathogenic"	""
"0000549366"	"0"	"70"	"12"	"88486610"	"88486610"	"subst"	"1.24562E-5"	"02330"	"CEP290_000339"	"g.88486610C>T"	""	""	""	"CEP290(NM_025114.4):c.3310-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88092833C>T"	""	"likely pathogenic"	""
"0000549367"	"0"	"50"	"12"	"88487578"	"88487578"	"subst"	"0"	"01943"	"CEP290_000340"	"g.88487578C>T"	""	""	""	"CEP290(NM_025114.3):c.3278G>A (p.R1093H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88093801C>T"	""	"VUS"	""
"0000549368"	"0"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"02330"	"CEP290_000055"	"g.88487688dup"	""	""	""	"CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88093911dup"	""	"pathogenic"	""
"0000549369"	"0"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"01943"	"CEP290_000055"	"g.88487688dup"	""	""	""	"CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88093911dup"	""	"pathogenic"	""
"0000549370"	"0"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"02325"	"CEP290_000055"	"g.88487688dup"	""	""	""	"CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88093911dup"	""	"pathogenic"	""
"0000549371"	"0"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"02326"	"CEP290_000055"	"g.88487688dup"	""	""	""	"CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88093911dup"	""	"pathogenic"	""
"0000549372"	"0"	"30"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"02330"	"CEP290_000341"	"g.88496626C>T"	""	""	""	"CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88102849C>T"	""	"likely benign"	""
"0000549373"	"0"	"50"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"01943"	"CEP290_000341"	"g.88496626C>T"	""	""	""	"CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88102849C>T"	""	"VUS"	""
"0000549374"	"0"	"10"	"12"	"88496672"	"88496672"	"subst"	"0"	"02330"	"CEP290_000342"	"g.88496672G>A"	""	""	""	"CEP290(NM_025114.4):c.2934C>T (p.D978=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88102895G>A"	""	"benign"	""
"0000549375"	"0"	"30"	"12"	"88496733"	"88496733"	"subst"	"0.000422937"	"01804"	"CEP290_000343"	"g.88496733G>A"	""	""	""	"CEP290(NM_025114.3):c.2873C>T (p.(Ser958Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88102956G>A"	""	"likely benign"	""
"0000549376"	"0"	"90"	"12"	"88500547"	"88500547"	"subst"	"1.24996E-5"	"02330"	"CEP290_000344"	"g.88500547G>A"	""	""	""	"CEP290(NM_025114.4):c.2722C>T (p.R908*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88106770G>A"	""	"pathogenic"	""
"0000549377"	"0"	"50"	"12"	"88500654"	"88500654"	"subst"	"0.000268632"	"01943"	"CEP290_000150"	"g.88500654G>A"	""	""	""	"CEP290(NM_025114.3):c.2615C>T (p.S872L, p.(Ser872Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88106877G>A"	""	"VUS"	""
"0000549380"	"0"	"30"	"12"	"88500893"	"88500897"	"dup"	"0"	"02325"	"CEP290_000347"	"g.88500893_88500897dup"	""	""	""	"CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88107116_88107120dup"	""	"likely benign"	""
"0000549381"	"0"	"30"	"12"	"88500893"	"88500897"	"dup"	"0"	"02326"	"CEP290_000347"	"g.88500893_88500897dup"	""	""	""	"CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88107116_88107120dup"	""	"likely benign"	""
"0000549383"	"0"	"50"	"12"	"88502880"	"88502880"	"subst"	"0"	"01943"	"CEP290_000271"	"g.88502880G>A"	""	""	""	"CEP290(NM_025114.3):c.2446C>T (p.R816C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88109103G>A"	""	"VUS"	""
"0000549384"	"0"	"50"	"12"	"88505073"	"88505073"	"subst"	"3.84603E-5"	"02330"	"CEP290_000348"	"g.88505073A>G"	""	""	""	"CEP290(NM_025114.3):c.2273T>C (p.V758A), CEP290(NM_025114.4):c.2273T>C (p.V758A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111296A>G"	""	"VUS"	""
"0000549385"	"0"	"50"	"12"	"88505085"	"88505085"	"subst"	"0"	"02330"	"CEP290_000349"	"g.88505085T>A"	""	""	""	"CEP290(NM_025114.4):c.2261A>T (p.E754V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111308T>A"	""	"VUS"	""
"0000549386"	"0"	"30"	"12"	"88505477"	"88505477"	"subst"	"1.84003E-5"	"01943"	"CEP290_000350"	"g.88505477A>G"	""	""	""	"CEP290(NM_025114.3):c.2211T>C (p.N737=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111700A>G"	""	"likely benign"	""
"0000549387"	"0"	"90"	"12"	"88505566"	"88505570"	"dup"	"0"	"02329"	"CEP290_000042"	"g.88505566_88505570dup"	""	""	""	"CEP290(NM_025114.4):c.2119_2123dupCAGCT (p.T709Sfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111789_88111793dup"	""	"pathogenic"	""
"0000549388"	"0"	"30"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"01804"	"CEP290_000007"	"g.88508258T>C"	""	""	""	"CEP290(NM_025114.3):c.1991A>G (p.D664G, p.(Asp664Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88114481T>C"	""	"likely benign"	""
"0000549390"	"0"	"10"	"12"	"88508976"	"88508977"	"del"	"0"	"02330"	"CEP290_000351"	"g.88508976_88508977del"	""	""	""	"CEP290(NM_025114.4):c.1825-13_1825-12delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88115199_88115200del"	""	"benign"	""
"0000549391"	"0"	"10"	"12"	"88508976"	"88508977"	"del"	"0"	"02326"	"CEP290_000351"	"g.88508976_88508977del"	""	""	""	"CEP290(NM_025114.4):c.1825-13_1825-12delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88115199_88115200del"	""	"benign"	""
"0000549392"	"0"	"30"	"12"	"88510795"	"88510795"	"dup"	"0"	"02330"	"CEP290_000352"	"g.88510795dup"	""	""	""	"CEP290(NM_025114.4):c.1824+16dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88117018dup"	""	"likely benign"	""
"0000549393"	"0"	"30"	"12"	"88510905"	"88510905"	"subst"	"0.000309424"	"02326"	"CEP290_000210"	"g.88510905G>A"	""	""	""	"CEP290(NM_025114.3):c.1729C>T (p.L577=), CEP290(NM_025114.4):c.1729C>T (p.L577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88117128G>A"	""	"likely benign"	""
"0000549394"	"0"	"30"	"12"	"88510928"	"88510928"	"subst"	"0"	"02330"	"CEP290_000353"	"g.88510928T>C"	""	""	""	"CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88117151T>C"	""	"likely benign"	""
"0000549395"	"0"	"30"	"12"	"88510928"	"88510928"	"subst"	"0"	"01804"	"CEP290_000353"	"g.88510928T>C"	""	""	""	"CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88117151T>C"	""	"likely benign"	""
"0000549396"	"0"	"90"	"12"	"88512314"	"88512314"	"dup"	"0"	"01943"	"CEP290_000354"	"g.88512314dup"	""	""	""	"CEP290(NM_025114.3):c.1666dupA (p.I556Nfs*20)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88118537dup"	""	"pathogenic"	""
"0000549397"	"0"	"90"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"02327"	"CEP290_000033"	"g.88512326G>A"	""	""	""	"CEP290(NM_025114.3):c.1645C>T (p.R549*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88118549G>A"	""	"pathogenic"	""
"0000549398"	"0"	"50"	"12"	"88512335"	"88512335"	"subst"	"4.5848E-6"	"01943"	"CEP290_000355"	"g.88512335C>T"	""	""	""	"CEP290(NM_025114.3):c.1636G>A (p.E546K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88118558C>T"	""	"VUS"	""
"0000549399"	"0"	"10"	"12"	"88512352"	"88512352"	"subst"	"0.00187028"	"02330"	"CEP290_000215"	"g.88512352A>G"	""	""	""	"CEP290(NM_025114.4):c.1624-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88118575A>G"	""	"benign"	""
"0000549400"	"0"	"30"	"12"	"88513885"	"88513885"	"subst"	"0.00086176"	"01804"	"CEP290_000218"	"g.88513885G>A"	""	""	""	"CEP290(NM_025114.3):c.1522+6C>T (p.(=)), CEP290(NM_025114.4):c.1522+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88120108G>A"	""	"likely benign"	""
"0000549401"	"0"	"50"	"12"	"88513965"	"88513965"	"subst"	"9.12652E-5"	"02330"	"CEP290_000356"	"g.88513965G>A"	""	""	""	"CEP290(NM_025114.4):c.1448C>T (p.T483I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88120188G>A"	""	"VUS"	""
"0000549402"	"0"	"90"	"12"	"88513993"	"88513997"	"del"	"0"	"02329"	"CEP290_000027"	"g.88513993_88513997del"	""	""	""	"CEP290(NM_025114.3):c.1419_1423delAATAA (p.I474Rfs*5), CEP290(NM_025114.4):c.1419_1423delAATAA (p.I474Rfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88120216_88120220del"	""	"pathogenic"	""
"0000549403"	"0"	"30"	"12"	"88514786"	"88514786"	"subst"	"0"	"01943"	"CEP290_000357"	"g.88514786T>C"	""	""	""	"CEP290(NM_025114.3):c.1347A>G (p.K449=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88121009T>C"	""	"likely benign"	""
"0000549404"	"0"	"50"	"12"	"88519120"	"88519120"	"subst"	"0.000998676"	"01943"	"CEP290_000226"	"g.88519120A>C"	""	""	""	"CEP290(NM_025114.3):c.1092T>G (p.I364M, p.(Ile364Met)), CEP290(NM_025114.4):c.1092T>G (p.I364M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88125343A>C"	""	"VUS"	""
"0000549405"	"0"	"30"	"12"	"88519120"	"88519120"	"subst"	"0.000998676"	"02326"	"CEP290_000226"	"g.88519120A>C"	""	""	""	"CEP290(NM_025114.3):c.1092T>G (p.I364M, p.(Ile364Met)), CEP290(NM_025114.4):c.1092T>G (p.I364M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88125343A>C"	""	"likely benign"	""
"0000549406"	"0"	"30"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"02330"	"CEP290_000149"	"g.88519133C>T"	""	""	""	"CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88125356C>T"	""	"likely benign"	""
"0000549407"	"0"	"30"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"01804"	"CEP290_000149"	"g.88519133C>T"	""	""	""	"CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88125356C>T"	""	"likely benign"	""
"0000549408"	"0"	"30"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"02325"	"CEP290_000149"	"g.88519133C>T"	""	""	""	"CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88125356C>T"	""	"likely benign"	""
"0000549409"	"0"	"30"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"02326"	"CEP290_000149"	"g.88519133C>T"	""	""	""	"CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88125356C>T"	""	"likely benign"	""
"0000549410"	"0"	"30"	"12"	"88520153"	"88520153"	"subst"	"0"	"01943"	"CEP290_000358"	"g.88520153C>T"	""	""	""	"CEP290(NM_025114.3):c.1005G>A (p.R335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88126376C>T"	""	"likely benign"	""
"0000549411"	"0"	"10"	"12"	"88522823"	"88522824"	"ins"	"0.929976"	"01943"	"CEP290_000359"	"g.88522823_88522824insC"	""	""	""	"CEP290(NM_025114.3):c.853-12_853-11insG, CEP290(NM_025114.4):c.853-12_853-11insG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129046_88129047insC"	""	"benign"	""
"0000549412"	"0"	"10"	"12"	"88522823"	"88522824"	"ins"	"0.929976"	"02325"	"CEP290_000359"	"g.88522823_88522824insC"	""	""	""	"CEP290(NM_025114.3):c.853-12_853-11insG, CEP290(NM_025114.4):c.853-12_853-11insG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129046_88129047insC"	""	"benign"	""
"0000549413"	"0"	"10"	"12"	"88522938"	"88522940"	"dup"	"0"	"02326"	"CEP290_000360"	"g.88522938_88522940dup"	""	""	""	"CEP290(NM_025114.4):c.853-127_853-125dupTAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129161_88129163dup"	""	"benign"	""
"0000549414"	"0"	"10"	"12"	"88523398"	"88523398"	"subst"	"0"	"02326"	"CEP290_000361"	"g.88523398T>C"	""	""	""	"CEP290(NM_025114.4):c.852+73A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129621T>C"	""	"benign"	""
"0000549415"	"0"	"30"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"01804"	"CEP290_000022"	"g.88523494C>G"	""	""	""	"CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129717C>G"	""	"likely benign"	""
"0000549416"	"0"	"10"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"02327"	"CEP290_000022"	"g.88523494C>G"	""	""	""	"CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129717C>G"	""	"benign"	""
"0000549417"	"0"	"90"	"12"	"88523590"	"88523591"	"del"	"0"	"02329"	"CEP290_000362"	"g.88523590_88523591del"	""	""	""	"CEP290(NM_025114.4):c.734_735delAG (p.E245Vfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129813_88129814del"	""	"pathogenic"	""
"0000549418"	"0"	"90"	"12"	"88523644"	"88523645"	"del"	"0"	"02330"	"CEP290_000023"	"g.88523644_88523645del"	""	""	""	"CEP290(NM_025114.4):c.679_680delGA (p.E227Sfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88129867_88129868del"	""	"pathogenic"	""
"0000549419"	"0"	"50"	"12"	"88524150"	"88524150"	"subst"	"4.1061E-6"	"01943"	"CEP290_000363"	"g.88524150A>C"	""	""	""	"CEP290(NM_025114.3):c.564T>G (p.D188E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88130373A>C"	""	"VUS"	""
"0000549420"	"0"	"30"	"12"	"88524152"	"88524152"	"subst"	"0"	"01804"	"CEP290_000364"	"g.88524152C>T"	""	""	""	"CEP290(NM_025114.3):c.562G>A (p.(Asp188Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88130375C>T"	""	"likely benign"	""
"0000549421"	"0"	"90"	"12"	"88530424"	"88530424"	"del"	"0"	"02327"	"CEP290_000015"	"g.88530424del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88136647del"	""	"pathogenic"	""
"0000549424"	"0"	"30"	"12"	"88530518"	"88530518"	"subst"	"0.000280527"	"01943"	"CEP290_000366"	"g.88530518T>C"	""	""	""	"CEP290(NM_025114.3):c.343A>G (p.N115D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88136741T>C"	""	"likely benign"	""
"0000549425"	"0"	"50"	"12"	"88530520"	"88530520"	"subst"	"0.000162688"	"02330"	"CEP290_000244"	"g.88530520C>T"	""	""	""	"CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88136743C>T"	""	"VUS"	""
"0000549426"	"0"	"50"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"01943"	"CEP290_000276"	"g.88533296C>T"	""	""	""	"CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88139519C>T"	""	"VUS"	""
"0000549427"	"0"	"30"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"02326"	"CEP290_000276"	"g.88533296C>T"	""	""	""	"CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88139519C>T"	""	"likely benign"	""
"0000549429"	"0"	"30"	"12"	"88533357"	"88533357"	"dup"	"0"	"02326"	"CEP290_000368"	"g.88533357dup"	""	""	""	"CEP290(NM_025114.4):c.181-10dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88139580dup"	""	"likely benign"	""
"0000549430"	"0"	"50"	"12"	"88534751"	"88534751"	"subst"	"0"	"02327"	"CEP290_000369"	"g.88534751A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88140974A>C"	""	"VUS"	""
"0000549431"	"0"	"10"	"12"	"88535299"	"88535299"	"dup"	"0"	"02326"	"CEP290_000370"	"g.88535299dup"	""	""	""	"CEP290(NM_025114.4):c.-27-188dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88141522dup"	""	"benign"	""
"0000604355"	"21"	"70"	"12"	"88482934"	"88482934"	"subst"	"0"	"03508"	"CEP290_000372"	"g.88482934G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88089157G>A"	""	"pathogenic (recessive)"	""
"0000604356"	"0"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"03508"	"CEP290_000030"	"g.88512314del"	""	""	""	"1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic (recessive)"	""
"0000604357"	"10"	"70"	"12"	"88513984"	"88513984"	"subst"	"0"	"03508"	"CEP290_000373"	"g.88513984G>A"	""	""	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.88120207G>A"	""	"pathogenic (recessive)"	""
"0000604358"	"21"	"70"	"12"	"88530539"	"88530539"	"subst"	"0"	"03508"	"CEP290_000018"	"g.88530539G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88136762G>A"	""	"pathogenic (recessive)"	""
"0000604359"	"21"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"03508"	"CEP290_000030"	"g.88512314del"	""	""	""	"1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic (recessive)"	""
"0000604360"	"11"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000604361"	"3"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000604362"	"11"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"03508"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic (recessive)"	""
"0000604363"	"11"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"03508"	"CEP290_000375"	"g.88535085C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	""
"0000604364"	"21"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000604392"	"21"	"70"	"12"	"88482991"	"88482991"	"subst"	"0"	"03508"	"CEP290_000376"	"g.88482991G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88089214G>A"	""	"pathogenic (recessive)"	""
"0000604393"	"11"	"70"	"12"	"88456556"	"88456556"	"subst"	"0"	"03508"	"CEP290_000371"	"g.88456556C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.88062779C>T"	""	"pathogenic (recessive)"	""
"0000604562"	"0"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"03508"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic (recessive)"	""
"0000604563"	"0"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"03508"	"CEP290_000375"	"g.88535085C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	""
"0000604564"	"0"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000604565"	"0"	"70"	"12"	"88482934"	"88482934"	"subst"	"0"	"03508"	"CEP290_000372"	"g.88482934G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88089157G>A"	""	"likely pathogenic (recessive)"	""
"0000604566"	"0"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"03508"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic (recessive)"	""
"0000604567"	"0"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"03508"	"CEP290_000375"	"g.88535085C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	""
"0000614408"	"0"	"90"	"12"	"88443066"	"88443066"	"dup"	"0"	"02327"	"CEP290_000111"	"g.88443066dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88049289dup"	""	"pathogenic"	""
"0000614409"	"0"	"50"	"12"	"88457784"	"88457784"	"subst"	"0"	"01943"	"CEP290_000379"	"g.88457784C>T"	""	""	""	"CEP290(NM_025114.3):c.6244G>A (p.A2082T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88064007C>T"	""	"VUS"	""
"0000614410"	"0"	"50"	"12"	"88472895"	"88472895"	"subst"	"0.000117942"	"02325"	"CEP290_000319"	"g.88472895C>T"	""	""	""	"CEP290(NM_025114.3):c.5338G>A (p.V1780I), CEP290(NM_025114.4):c.5338G>A (p.V1780I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88079118C>T"	""	"VUS"	""
"0000614411"	"0"	"50"	"12"	"88479887"	"88479887"	"subst"	"1.22031E-5"	"02325"	"CEP290_000380"	"g.88479887C>T"	""	""	""	"CEP290(NM_025114.4):c.4366G>A (p.A1456T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086110C>T"	""	"VUS"	""
"0000614412"	"0"	"30"	"12"	"88479939"	"88479939"	"subst"	"2.46577E-5"	"02330"	"CEP290_000381"	"g.88479939A>C"	""	""	""	"CEP290(NM_025114.4):c.4314T>G (p.A1438=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086162A>C"	""	"likely benign"	""
"0000614413"	"0"	"90"	"12"	"88483181"	"88483181"	"dup"	"0"	"02327"	"CEP290_000382"	"g.88483181dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88089404dup"	""	"pathogenic"	""
"0000614415"	"0"	"30"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"01804"	"CEP290_000341"	"g.88496626C>T"	""	""	""	"CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88102849C>T"	""	"likely benign"	""
"0000614416"	"0"	"50"	"12"	"88505628"	"88505628"	"subst"	"0"	"01943"	"CEP290_000385"	"g.88505628T>C"	""	""	""	"CEP290(NM_025114.3):c.2060A>G (p.E687G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111851T>C"	""	"VUS"	""
"0000614417"	"0"	"30"	"12"	"88510918"	"88510918"	"subst"	"0.000219974"	"02330"	"CEP290_000211"	"g.88510918T>C"	""	""	""	"CEP290(NM_025114.4):c.1716A>G (p.L572=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88117141T>C"	""	"likely benign"	""
"0000614418"	"0"	"90"	"12"	"88534780"	"88534783"	"del"	"0"	"02325"	"CEP290_000387"	"g.88534780_88534783del"	""	""	""	"CEP290(NM_025114.4):c.133_136delCAAG (p.Q45Kfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88141003_88141006del"	""	"pathogenic"	""
"0000620291"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00006"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Tsurusaki 2013:23034536}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000620293"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00006"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Tsurusaki 2013:23034536}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000620294"	"1"	"90"	"12"	"88512259"	"88512259"	"subst"	"1.25244E-5"	"00006"	"CEP290_000377"	"g.88512259C>T"	""	"{PMID:Tsurusaki 2013:23034536}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118482C>T"	""	"pathogenic (recessive)"	""
"0000620297"	"2"	"90"	"12"	"88533308"	"88533308"	"subst"	"0"	"00006"	"CEP290_000378"	"g.88533308C>A"	""	"{PMID:Tsurusaki 2013:23034536}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139531C>A"	""	"pathogenic (recessive)"	""
"0000620298"	"11"	"90"	"12"	"88465625"	"88465625"	"subst"	"0"	"00006"	"CEP290_000278"	"g.88465625T>A"	""	"{PMID:Tsurusaki 2013:23034536}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88071848T>A"	""	"pathogenic (recessive)"	""
"0000620299"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00006"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Itoh 2018:29217415}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000620300"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00006"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Itoh 2018:29217415}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000620301"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00006"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Itoh 2018:29217415}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000620302"	"11"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00006"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Itoh 2018:29217415}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	""
"0000620303"	"21"	"90"	"12"	"88512259"	"88512259"	"subst"	"1.25244E-5"	"00006"	"CEP290_000377"	"g.88512259C>T"	""	"{PMID:Itoh 2018:29217415}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118482C>T"	""	"pathogenic (recessive)"	""
"0000622983"	"0"	"50"	"12"	"88462318"	"88462318"	"subst"	"0.000307421"	"02325"	"CEP290_000178"	"g.88462318T>C"	""	""	""	"CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88068541T>C"	""	"VUS"	""
"0000622984"	"0"	"90"	"12"	"88502842"	"88502842"	"subst"	"0"	"01943"	"CEP290_000383"	"g.88502842C>A"	""	""	""	"CEP290(NM_025114.3):c.2483+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88109065C>A"	""	"pathogenic"	""
"0000622985"	"0"	"50"	"12"	"88505073"	"88505073"	"subst"	"3.84603E-5"	"01943"	"CEP290_000348"	"g.88505073A>G"	""	""	""	"CEP290(NM_025114.3):c.2273T>C (p.V758A), CEP290(NM_025114.4):c.2273T>C (p.V758A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111296A>G"	""	"VUS"	""
"0000622986"	"0"	"50"	"12"	"88505468"	"88505468"	"subst"	"9.85328E-6"	"01943"	"CEP290_000384"	"g.88505468C>G"	""	""	""	"CEP290(NM_025114.3):c.2217+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88111691C>G"	""	"VUS"	""
"0000622987"	"0"	"30"	"12"	"88520123"	"88520123"	"subst"	"0"	"01943"	"CEP290_000386"	"g.88520123A>G"	""	""	""	"CEP290(NM_025114.3):c.1035T>C (p.A345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88126346A>G"	""	"likely benign"	""
"0000624991"	"11"	"70"	"12"	"88470997"	"88470997"	"subst"	"0"	"01848"	"CEP290_000388"	"g.88470997A>C"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077220A>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000624992"	"21"	"70"	"12"	"88530477"	"88530478"	"del"	"0"	"01848"	"CEP290_000016"	"g.88530477_88530478del"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88136700_88136701del"	""	"pathogenic (recessive)"	"ACMG"
"0000648663"	"1"	"50"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"03575"	"CEP290_000162"	"g.88444154C>A"	"10/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs189556433}"	"Germline"	""	"rs189556433"	"0"	""	""	"g.88050377C>A"	""	"VUS"	""
"0000648664"	"1"	"30"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"03575"	"CEP290_000175"	"g.88454728A>G"	"76/2784 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"76 heterozygous, no homozygous; {DB:CLININrs117852025}"	"Germline"	""	"rs117852025"	"0"	""	""	"g.88060951A>G"	""	"likely benign"	""
"0000648665"	"1"	"90"	"12"	"88471004"	"88471004"	"subst"	"0"	"03575"	"CEP290_000390"	"g.88471004C>A"	"1/2790 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs267606719}"	"Germline"	""	"rs267606719"	"0"	""	""	"g.88077227C>A"	""	"pathogenic"	""
"0000648666"	"1"	"90"	"12"	"88478448"	"88478448"	"del"	"0"	"03575"	"CEP290_000391"	"g.88478448del"	"2/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs587779733}"	"Germline"	""	"rs587779733"	"0"	""	""	"g.88084671del"	""	"pathogenic"	""
"0000648667"	"1"	"70"	"12"	"88480227"	"88480227"	"subst"	"0"	"03575"	"CEP290_000392"	"g.88480227C>A"	"1/2788 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs797044604}"	"Germline"	""	"rs797044604"	"0"	""	""	"g.88086450C>A"	""	"likely pathogenic"	""
"0000648668"	"1"	"30"	"12"	"88500552"	"88500552"	"subst"	"0.010788"	"03575"	"CEP290_000050"	"g.88500552A>C"	"36/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"36 heterozygous; {DB:CLININrs7970228}"	"Germline"	""	"rs7970228"	"0"	""	""	"g.88106775A>C"	""	"likely benign"	""
"0000648669"	"1"	"30"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"03575"	"CEP290_000007"	"g.88508258T>C"	"89/2789 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"89 heterozygous; {DB:CLININrs79705698}"	"Germline"	""	"rs79705698"	"0"	""	""	"g.88114481T>C"	""	"likely benign"	""
"0000648670"	"1"	"50"	"12"	"88512301"	"88512301"	"subst"	"0.000453585"	"03575"	"CEP290_000212"	"g.88512301C>T"	"6/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs184018899}"	"Germline"	""	"rs184018899"	"0"	""	""	"g.88118524C>T"	""	"VUS"	""
"0000648671"	"1"	"50"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"03575"	"CEP290_000149"	"g.88519133C>T"	"3/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs188164241}"	"Germline"	""	"rs188164241"	"0"	""	""	"g.88125356C>T"	""	"VUS"	""
"0000648672"	"1"	"10"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"03575"	"CEP290_000022"	"g.88523494C>G"	"17/2771 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"17 heterozygous, no homozygous; {DB:CLININrs45502896}"	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"benign"	""
"0000648673"	"1"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"03575"	"CEP290_000005"	"g.88535064C>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs62635288}"	"Germline"	""	"rs62635288"	"0"	""	""	"g.88141287C>A"	""	"pathogenic"	""
"0000653219"	"1"	"90"	"12"	"88487680"	"88487680"	"del"	"0"	"03575"	"CEP290_000056"	"g.88487680del"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs62640570}"	"Germline"	""	"rs62640570"	"0"	""	""	"g.88093903del"	""	"pathogenic"	""
"0000653229"	"1"	"50"	"12"	"88487680"	"88487680"	"dup"	"0"	"03575"	"CEP290_000393"	"g.88487680dup"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"no interpretation available; 2 heterozygous, no homozygous; {DB:CLININrs62640570}"	"Germline"	""	"rs62640570"	"0"	""	""	"g.88093903dup"	""	"VUS"	""
"0000653366"	"0"	"70"	"12"	"88465673"	"88465673"	"subst"	"0"	"01807"	"CEP290_000389"	"g.88465673C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.88071896C>A"	""	"likely pathogenic"	""
"0000657210"	"0"	"50"	"12"	"88477631"	"88477631"	"subst"	"0.000228269"	"01804"	"CEP290_000394"	"g.88477631G>A"	""	""	""	"CEP290(NM_025114.3):c.4805C>T (p.(Thr1602Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88083854G>A"	""	"VUS"	""
"0000657211"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"02325"	"CEP290_000066"	"g.88479860G>A"	""	""	""	"CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000664769"	"1"	"50"	"12"	"88512307"	"88512307"	"subst"	"4.18949E-5"	"01848"	"CEP290_000395"	"g.88512307T>A"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118530T>A"	""	"VUS"	""
"0000664784"	"2"	"50"	"12"	"88519120"	"88519120"	"subst"	"0.000998676"	"01848"	"CEP290_000226"	"g.88519120A>C"	""	"{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88125343A>C"	""	"VUS"	""
"0000669200"	"3"	"30"	"12"	"88500552"	"88500552"	"subst"	"0.010788"	"03575"	"CEP290_000050"	"g.88500552A>C"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs7970228}"	"Germline"	""	"rs7970228"	"0"	""	""	"g.88106775A>C"	""	"likely benign"	""
"0000669201"	"3"	"30"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"03575"	"CEP290_000007"	"g.88508258T>C"	"5/2789 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"5 homozygous; {DB:CLININrs79705698}"	"Germline"	""	"rs79705698"	"0"	""	""	"g.88114481T>C"	""	"likely benign"	""
"0000679669"	"0"	"30"	"12"	"88453750"	"88453750"	"subst"	"0"	"01943"	"CEP290_000172"	"g.88453750C>T"	""	""	""	"CEP290(NM_025114.3):c.6570G>A (p.M2190I), CEP290(NM_025114.4):c.6570G>A (p.(Met2190Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679670"	"0"	"30"	"12"	"88472895"	"88472895"	"subst"	"0.000117942"	"02326"	"CEP290_000319"	"g.88472895C>T"	""	""	""	"CEP290(NM_025114.3):c.5338G>A (p.V1780I), CEP290(NM_025114.4):c.5338G>A (p.V1780I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679671"	"0"	"90"	"12"	"88478545"	"88478545"	"subst"	"8.14936E-6"	"02329"	"CEP290_000286"	"g.88478545G>A"	""	""	""	"CEP290(NM_025114.3):c.4522C>T (p.R1508*), CEP290(NM_025114.4):c.4522C>T (p.R1508*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000679672"	"0"	"30"	"12"	"88483184"	"88483184"	"subst"	"0.00151739"	"02326"	"CEP290_000193"	"g.88483184A>G"	""	""	""	"CEP290(NM_025114.3):c.3654T>C (p.L1218=), CEP290(NM_025114.4):c.3654T>C (p.L1218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679673"	"0"	"30"	"12"	"88500893"	"88500897"	"dup"	"0"	"01804"	"CEP290_000347"	"g.88500893_88500897dup"	""	""	""	"CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679674"	"0"	"70"	"12"	"88502942"	"88502942"	"del"	"0"	"01943"	"CEP290_000396"	"g.88502942del"	""	""	""	"CEP290(NM_025114.3):c.2390delA (p.K797Sfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000679675"	"0"	"90"	"12"	"88505095"	"88505095"	"subst"	"0"	"02330"	"CEP290_000046"	"g.88505095G>A"	""	""	""	"CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000679676"	"0"	"50"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"01943"	"CEP290_000224"	"g.88514835T>C"	""	""	""	"CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000679678"	"0"	"50"	"12"	"88530520"	"88530520"	"subst"	"0.000162688"	"01804"	"CEP290_000244"	"g.88530520C>T"	""	""	""	"CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000684510"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00004"	"CEP290_000002"	"g.88494960T>C"	"3/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000684511"	"1"	"70"	"12"	"88476857"	"88476858"	"del"	"2.92129E-5"	"00004"	"CEP290_000078"	"g.88476857_88476858del"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	"c.4962_4963delAA"	""	"Germline"	""	""	"0"	""	""	"g.88083080_88083081del"	""	"likely pathogenic"	""
"0000685084"	"0"	"90"	"12"	"88465625"	"88465625"	"subst"	"0"	"00004"	"CEP290_000278"	"g.88465625T>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685085"	"0"	"90"	"12"	"88477665"	"88477665"	"subst"	"0"	"00004"	"CEP290_000072"	"g.88477665G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685086"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00004"	"CEP290_000066"	"g.88479860G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685087"	"0"	"90"	"12"	"88512305"	"88512305"	"del"	"0.00174928"	"00004"	"CEP290_000030"	"g.88512305del"	"3/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000691438"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"02326"	"CEP290_000002"	"g.88494960T>C"	""	""	""	"CEP290(NM_025114.4):c.2991+1655A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000691439"	"0"	"10"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"02327"	"CEP290_000007"	"g.88508258T>C"	""	""	""	"CEP290(NM_025114.3):c.1991A>G (p.D664G, p.(Asp664Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000691440"	"0"	"30"	"12"	"88508281"	"88508281"	"subst"	"0"	"01804"	"CEP290_000397"	"g.88508281T>G"	""	""	""	"CEP290(NM_025114.3):c.1968A>C (p.(Gln656His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691441"	"0"	"30"	"12"	"88508331"	"88508331"	"subst"	"6.11745E-5"	"01943"	"CEP290_000398"	"g.88508331A>G"	""	""	""	"CEP290(NM_025114.3):c.1918T>C (p.L640=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698821"	"3"	"70"	"12"	"88512420"	"88512420"	"subst"	"0"	"01164"	"CEP290_000399"	"g.88512420C>T"	""	""	""	""	"silent variant, but last nucleotide in exon, no segregation yet performed, possibly consanguenous background. Physiological Splice-Donor is weak, no consensus AG/GT,"	"Germline"	"?"	""	"0"	""	""	""	""	"VUS (!)"	"ACMG"
"0000710294"	"3"	"90"	"12"	"88500664"	"88500664"	"subst"	"1.28142E-5"	"00006"	"CEP290_000297"	"g.88500664G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PVS1, PM2, PP4"	"Germline"	""	""	"0"	""	""	"g.88106887G>A"	""	"pathogenic"	"ACMG"
"0000713260"	"0"	"70"	"12"	"88502936"	"88502936"	"del"	"4.13846E-5"	"00000"	"CEP290_000396"	"g.88502936del"	""	"{PMID:Carss 2017:28041643}"	""	"12:88502935CT>C ENST00000552810.1:c.2390delA (Lys797SerfsTer2)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000713365"	"3"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"00000"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Carss 2017:28041643}"	""	"12:88535064C>A ENST00000552810.1:c.21G>T (Trp7Cys)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713368"	"0"	"90"	"12"	"88471567"	"88471567"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471567del"	""	"{PMID:Carss 2017:28041643}"	""	"12:88471566CT>C ENST00000552810.1:c.5493delA (Ala1832ProfsTer19)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000724266"	"0"	"50"	"12"	"88462300"	"88462300"	"subst"	"4.97606E-5"	"02329"	"CEP290_000177"	"g.88462300G>A"	""	""	""	"CEP290(NM_025114.3):c.6134C>T (p.(Ser2045Leu)), CEP290(NM_025114.4):c.6134C>T (p.S2045L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724267"	"0"	"30"	"12"	"88465114"	"88465114"	"subst"	"0"	"01804"	"CEP290_000400"	"g.88465114T>G"	""	""	""	"CEP290(NM_025114.3):c.5968A>C (p.(Lys1990Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724268"	"0"	"10"	"12"	"88472911"	"88472911"	"subst"	"0.00351665"	"02327"	"CEP290_000188"	"g.88472911G>A"	""	""	""	"CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000724269"	"0"	"30"	"12"	"88477630"	"88477630"	"subst"	"0.000868289"	"02326"	"CEP290_000073"	"g.88477630C>T"	""	""	""	"CEP290(NM_025114.3):c.4806G>A (p.T1602=), CEP290(NM_025114.4):c.4806G>A (p.T1602=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724270"	"0"	"50"	"12"	"88478490"	"88478490"	"subst"	"2.44006E-5"	"02329"	"CEP290_000284"	"g.88478490T>A"	""	""	""	"CEP290(NM_025114.4):c.4577A>T (p.E1526V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724271"	"0"	"50"	"12"	"88480220"	"88480220"	"subst"	"0.000114216"	"01943"	"CEP290_000329"	"g.88480220T>C"	""	""	""	"CEP290(NM_025114.3):c.4250A>G (p.Q1417R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724272"	"0"	"50"	"12"	"88482980"	"88482980"	"subst"	"8.17521E-6"	"01943"	"CEP290_000401"	"g.88482980G>T"	""	""	""	"CEP290(NM_025114.3):c.3858C>A (p.F1286L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724273"	"0"	"90"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"02330"	"CEP290_000058"	"g.88483027G>A"	""	""	""	"CEP290(NM_025114.4):c.3811C>T (p.R1271*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724274"	"0"	"50"	"12"	"88483178"	"88483178"	"subst"	"0.000226778"	"01943"	"CEP290_000402"	"g.88483178C>A"	""	""	""	"CEP290(NM_025114.3):c.3660G>T (p.K1220N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724275"	"0"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"02329"	"CEP290_000055"	"g.88487688dup"	""	""	""	"CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724276"	"0"	"30"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"02326"	"CEP290_000341"	"g.88496626C>T"	""	""	""	"CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724277"	"0"	"30"	"12"	"88500893"	"88500897"	"dup"	"0"	"02330"	"CEP290_000347"	"g.88500893_88500897dup"	""	""	""	"CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724278"	"0"	"50"	"12"	"88505013"	"88505015"	"del"	"0"	"01804"	"CEP290_000403"	"g.88505013_88505015del"	""	""	""	"CEP290(NM_025114.3):c.2332_2334del (p.(Asn778del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724279"	"0"	"30"	"12"	"88510905"	"88510905"	"subst"	"0.000309424"	"02330"	"CEP290_000210"	"g.88510905G>A"	""	""	""	"CEP290(NM_025114.3):c.1729C>T (p.L577=), CEP290(NM_025114.4):c.1729C>T (p.L577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724280"	"0"	"50"	"12"	"88513888"	"88513888"	"subst"	"0"	"02327"	"CEP290_000404"	"g.88513888T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724281"	"0"	"50"	"12"	"88513893"	"88513893"	"subst"	"0"	"02327"	"CEP290_000405"	"g.88513893A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724282"	"0"	"30"	"12"	"88523489"	"88523489"	"subst"	"0.000242832"	"01943"	"CEP290_000406"	"g.88523489G>A"	""	""	""	"CEP290(NM_025114.3):c.834C>T (p.N278=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724283"	"0"	"30"	"12"	"88523546"	"88523546"	"subst"	"8.29944E-6"	"02330"	"CEP290_000231"	"g.88523546T>C"	""	""	""	"CEP290(NM_025114.4):c.777A>G (p.R259=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724284"	"0"	"30"	"12"	"88523584"	"88523584"	"subst"	"2.047E-5"	"02330"	"CEP290_000232"	"g.88523584C>T"	""	""	""	"CEP290(NM_025114.4):c.739G>A (p.V247I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724285"	"0"	"90"	"12"	"88523590"	"88523591"	"del"	"0"	"02330"	"CEP290_000362"	"g.88523590_88523591del"	""	""	""	"CEP290(NM_025114.4):c.734_735delAG (p.E245Vfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724286"	"0"	"90"	"12"	"88523644"	"88523645"	"del"	"0"	"02327"	"CEP290_000023"	"g.88523644_88523645del"	""	""	""	"CEP290(NM_025114.4):c.679_680delGA (p.E227Sfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724287"	"0"	"90"	"12"	"88532948"	"88532952"	"del"	"0"	"02327"	"CEP290_000407"	"g.88532948_88532952del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000729854"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_025114.3:c.5668G>T:p.(Gly1890*)"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic (recessive)"	""
"0000729855"	"3"	"90"	"12"	"88477722"	"88477722"	"subst"	"0"	"00000"	"CEP290_000141"	"g.88477722C>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_025114.3:c.4714G>T:p.(Glu1572*)"	""	"Germline"	""	""	"0"	""	""	"g.88083945C>A"	""	"pathogenic (recessive)"	""
"0000729856"	"3"	"90"	"12"	"88508926"	"88508929"	"del"	"0"	"00000"	"CEP290_000036"	"g.88508926_88508929del"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_025114.3:c.1860_1863del:p.(Arg621Ilefs*2)"	""	"Germline"	""	""	"0"	""	""	"g.88115149_88115152del"	""	"pathogenic (recessive)"	""
"0000729857"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_025114.3:c.5668G>T:p.(Gly1890*)"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic (recessive)"	""
"0000729858"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_025114.3:c.5668G>T:p.(Gly1890*)"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic (recessive)"	""
"0000729859"	"3"	"90"	"12"	"88477722"	"88477722"	"subst"	"0"	"00000"	"CEP290_000141"	"g.88477722C>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_025114.3:c.4714G>T:p.(Glu1572*)"	""	"Germline"	""	""	"0"	""	""	"g.88083945C>A"	""	"pathogenic (recessive)"	""
"0000730341"	"1"	"90"	"12"	"88482813"	"88482813"	"del"	"0"	"00000"	"CEP290_000059"	"g.88482813del"	""	"{PMID:Sanchez-Navarro 2018:29588463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88089036del"	""	"pathogenic (recessive)"	""
"0000730361"	"2"	"90"	"12"	"88443066"	"88443066"	"dup"	"0"	"00000"	"CEP290_000111"	"g.88443066dup"	""	"{PMID:Sanchez-Navarro 2018:29588463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88049289dup"	""	"pathogenic (recessive)"	""
"0000730374"	"0"	"50"	"11"	"68705674"	"68705674"	"subst"	"0.263666"	"00002"	"IGHMBP2_000003"	"g.68705674C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.68938206C>A"	""	"VUS"	""
"0000730982"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs281865192"	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic (recessive)"	""
"0000730983"	"3"	"70"	"12"	"88502942"	"88502942"	"del"	"0"	"00000"	"CEP290_000396"	"g.88502942del"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs781670422"	"0"	""	""	"g.88109165del"	""	"likely pathogenic (recessive)"	""
"0000731035"	"2"	"70"	"12"	"88486455"	"88486456"	"delins"	"0"	"00000"	"CEP290_000410"	"g.88486455_88486456delinsAC"	""	"{PMID:Bryant 2018:29343940}"	""	"3461+2TA>GT"	""	"Germline"	""	""	"0"	""	""	"g.88092678_88092679delinsAC"	""	"likely pathogenic (recessive)"	""
"0000731139"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731147"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000731149"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000731166"	"2"	"90"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731172"	"2"	"90"	"12"	"88514886"	"88514886"	"subst"	"0"	"00000"	"CEP290_000414"	"g.88514886A>C"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731246"	"21"	"70"	"12"	"88478441"	"88478442"	"ins"	"0"	"00000"	"CEP290_000157"	"g.88478441_88478442insCATG"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88084664_88084665insCATG"	""	"likely pathogenic (recessive)"	""
"0000731247"	"21"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic (recessive)"	""
"0000731248"	"21"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic (recessive)"	""
"0000731249"	"21"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic (recessive)"	""
"0000731250"	"21"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic (recessive)"	""
"0000731272"	"11"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic (recessive)"	""
"0000731273"	"11"	"70"	"12"	"88487675"	"88487676"	"del"	"0"	"00000"	"CEP290_000158"	"g.88487675_88487676del"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88093898_88093899del"	""	"likely pathogenic (recessive)"	""
"0000731274"	"11"	"70"	"12"	"88510853"	"88510853"	"subst"	"2.26626E-5"	"00000"	"CEP290_000156"	"g.88510853A>T"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88117076A>T"	""	"likely pathogenic (recessive)"	""
"0000731275"	"11"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic (recessive)"	""
"0000731276"	"11"	"70"	"12"	"88532919"	"88532919"	"subst"	"0"	"00000"	"CEP290_000413"	"g.88532919T>C"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139142T>C"	""	"likely pathogenic (recessive)"	""
"0000731316"	"11"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Rim 2017:29145603}"	""	"1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"likely pathogenic (recessive)"	""
"0000731317"	"11"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"00000"	"CEP290_000375"	"g.88535085C>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	""
"0000731341"	"21"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"likely pathogenic (recessive)"	""
"0000731342"	"21"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"likely pathogenic (recessive)"	""
"0000731345"	"11"	"50"	"12"	"88478404"	"88478406"	"del"	"2.44033E-5"	"00006"	"CEP290_000068"	"g.88478404_88478406del"	""	"{PMID:Han 2017:28966547}"	""	"4661_4663delAAG"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000731433"	"1"	"70"	"12"	"88490759"	"88490759"	"del"	"0"	"00000"	"CEP290_000411"	"g.88490759del"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88096982del"	""	"likely pathogenic (recessive)"	""
"0000731437"	"1"	"70"	"12"	"88449397"	"88449397"	"subst"	"0"	"00000"	"CEP290_000409"	"g.88449397T>A"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88055620T>A"	""	"likely pathogenic (recessive)"	""
"0000731454"	"2"	"70"	"12"	"88477704"	"88477704"	"subst"	"0"	"00000"	"CEP290_000071"	"g.88477704C>A"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083927C>A"	""	"likely pathogenic (recessive)"	""
"0000731456"	"2"	"70"	"12"	"88508262"	"88508262"	"subst"	"0"	"00000"	"CEP290_000412"	"g.88508262T>A"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88114485T>A"	""	"likely pathogenic (recessive)"	""
"0000731460"	"1"	"90"	"12"	"88449444"	"88449444"	"del"	"0.000219766"	"00006"	"CEP290_000109"	"g.88449444del"	""	"{PMID:Di Iorio 2017:29053603}"	""	"6869delA"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000731461"	"1"	"90"	"12"	"88453716"	"88453716"	"del"	"0"	"00006"	"CEP290_000106"	"g.88453716del"	""	"{PMID:Di Iorio 2017:29053603}"	""	"6604delA"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000731462"	"1"	"90"	"12"	"88519025"	"88519026"	"del"	"0"	"00006"	"CEP290_000408"	"g.88519025_88519026del"	""	"{PMID:Di Iorio 2017:29053603}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.88125248_88125249del"	""	"pathogenic"	""
"0000732452"	"0"	"50"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"00000"	"CEP290_000224"	"g.88514835T>C"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88121058T>C"	""	"VUS"	""
"0000732488"	"0"	"50"	"12"	"88510918"	"88510918"	"subst"	"0.000219974"	"00000"	"CEP290_000211"	"g.88510918T>C"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88117141T>C"	""	"VUS"	""
"0000732489"	"0"	"50"	"12"	"88512485"	"88512485"	"subst"	"0.00148363"	"00000"	"CEP290_000216"	"g.88512485A>G"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118708A>G"	""	"VUS"	""
"0000732666"	"1"	"70"	"12"	"88508350"	"88508350"	"subst"	"0"	"00000"	"CEP290_000426"	"g.88508350A>C"	""	"{PMID:Soens 2017:28714225}"	""	""	"effect on splicing predicted from mini-gene splicing assay"	"Germline"	"yes"	""	"0"	""	""	"g.88114573A>C"	""	"likely pathogenic"	""
"0000732667"	"1"	"70"	"12"	"88508350"	"88508350"	"subst"	"0"	"00000"	"CEP290_000426"	"g.88508350A>C"	""	"{PMID:Soens 2017:28714225}"	""	""	"effect on splicing predicted from mini-gene splicing assay"	"Germline"	"yes"	""	"0"	""	""	"g.88114573A>C"	""	"likely pathogenic"	""
"0000732677"	"1"	"70"	"12"	"88512415"	"88512415"	"subst"	"0"	"00000"	"CEP290_000428"	"g.88512415C>T"	""	"{PMID:Soens 2017:28714225}"	""	""	"effect on splicing predicted from mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.88118638C>T"	""	"likely pathogenic"	""
"0000732693"	"2"	"70"	"12"	"88487607"	"88487607"	"dup"	"0"	"00000"	"CEP290_000421"	"g.88487607dup"	""	"{PMID:Soens 2017:28714225}"	""	"3249_3250insA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88093830dup"	""	"likely pathogenic"	""
"0000732704"	"2"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Soens 2017:28714225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000732705"	"2"	"70"	"12"	"88490671"	"88490671"	"subst"	"0"	"00000"	"CEP290_000422"	"g.88490671T>A"	""	"{PMID:Soens 2017:28714225}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88096894T>A"	""	"likely pathogenic"	""
"0000733047"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733048"	"1"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Stone 2017:28559085}"	""	"IVS40-1G>C"	""	"Germline"	""	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000733130"	"1"	"70"	"12"	"88486610"	"88486610"	"subst"	"1.24562E-5"	"00000"	"CEP290_000339"	"g.88486610C>T"	""	"{PMID:Stone 2017:28559085}"	""	"IVS28-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.88092833C>T"	""	"likely pathogenic"	""
"0000733131"	"1"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Stone 2017:28559085}"	""	"1657delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"likely pathogenic"	""
"0000733167"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733168"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733169"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733170"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733171"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733172"	"1"	"70"	"12"	"88478632"	"88478632"	"del"	"2.61236E-5"	"00000"	"CEP290_000419"	"g.88478632del"	""	"{PMID:Stone 2017:28559085}"	""	"IVS34-3del1gC"	""	"Germline"	""	""	"0"	""	""	"g.88084855del"	""	"likely pathogenic"	""
"0000733177"	"3"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733178"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000733179"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000733180"	"1"	"70"	"12"	"88474003"	"88474003"	"subst"	"1.63879E-5"	"00000"	"CEP290_000417"	"g.88474003C>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88080226C>A"	""	"likely pathogenic"	""
"0000733201"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS26+1655A>G"	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000733202"	"1"	"70"	"12"	"88481688"	"88481688"	"subst"	"0"	"00000"	"CEP290_000264"	"g.88481688G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88087911G>A"	""	"likely pathogenic"	""
"0000733203"	"1"	"70"	"12"	"88512260"	"88512260"	"subst"	"0"	"00000"	"CEP290_000427"	"g.88512260C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118483C>T"	""	"likely pathogenic"	""
"0000733334"	"1"	"70"	"12"	"88471064"	"88471064"	"dup"	"0"	"00000"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:Stone 2017:28559085}"	""	"5643_5644insA"	""	"Germline"	""	""	"0"	""	""	"g.88077287dup"	""	"likely pathogenic"	""
"0000733517"	"2"	"70"	"12"	"88465120"	"88465120"	"subst"	"0"	"00000"	"CEP290_000416"	"g.88465120C>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071343C>A"	""	"likely pathogenic"	""
"0000733518"	"2"	"70"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00000"	"CEP290_000081"	"g.88474022del"	""	"{PMID:Stone 2017:28559085}"	""	"5163delT"	""	"Germline"	""	""	"0"	""	""	"g.88080245del"	""	"likely pathogenic"	""
"0000733580"	"2"	"70"	"12"	"88452624"	"88452624"	"subst"	"0"	"00000"	"CEP290_000415"	"g.88452624C>T"	""	"{PMID:Stone 2017:28559085}"	""	"IVS49+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.88058847C>T"	""	"likely pathogenic"	""
"0000733581"	"2"	"70"	"12"	"88502912"	"88502912"	"subst"	"6.47509E-6"	"00000"	"CEP290_000425"	"g.88502912A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88109135A>G"	""	"likely pathogenic"	""
"0000733605"	"2"	"70"	"12"	"88478616"	"88478619"	"del"	"0"	"00000"	"CEP290_000418"	"g.88478616_88478619del"	""	"{PMID:Stone 2017:28559085}"	""	"4448_4451delAGAA"	""	"Germline"	""	""	"0"	""	""	"g.88084839_88084842del"	""	"likely pathogenic"	""
"0000733606"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000733607"	"2"	"70"	"12"	"88481675"	"88481675"	"del"	"0"	"00000"	"CEP290_000420"	"g.88481675del"	""	"{PMID:Stone 2017:28559085}"	""	"4076delT"	""	"Germline"	""	""	"0"	""	""	"g.88087898del"	""	"likely pathogenic"	""
"0000733608"	"2"	"70"	"12"	"88500853"	"88500854"	"del"	"0"	"00000"	"CEP290_000423"	"g.88500853_88500854del"	""	"{PMID:Stone 2017:28559085}"	""	"2505_2506delAG"	""	"Germline"	""	""	"0"	""	""	"g.88107076_88107077del"	""	"likely pathogenic"	""
"0000733609"	"2"	"70"	"12"	"88523583"	"88523583"	"del"	"0"	"00000"	"CEP290_000429"	"g.88523583del"	""	"{PMID:Stone 2017:28559085}"	""	"740delT"	""	"Germline"	""	""	"0"	""	""	"g.88129806del"	""	"likely pathogenic"	""
"0000733610"	"2"	"70"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Stone 2017:28559085}"	""	"1217_1218delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"likely pathogenic"	""
"0000733614"	"2"	"70"	"12"	"88453721"	"88453721"	"del"	"0"	"00000"	"CEP290_000106"	"g.88453721del"	""	"{PMID:Stone 2017:28559085}"	""	"6599delA"	""	"Germline"	""	""	"0"	""	""	"g.88059944del"	""	"likely pathogenic"	""
"0000733615"	"2"	"70"	"12"	"88502840"	"88502840"	"subst"	"0"	"00000"	"CEP290_000424"	"g.88502840T>C"	""	"{PMID:Stone 2017:28559085}"	""	"IVS23+3A>G"	""	"Germline"	""	""	"0"	""	""	"g.88109063T>C"	""	"likely pathogenic"	""
"0000733616"	"2"	"70"	"12"	"88524330"	"88524330"	"subst"	"1.37501E-5"	"00000"	"CEP290_000430"	"g.88524330T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88130553T>A"	""	"likely pathogenic"	""
"0000733631"	"2"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000733632"	"2"	"70"	"12"	"88505097"	"88505097"	"subst"	"5.38828E-6"	"00000"	"CEP290_000047"	"g.88505097A>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88111320A>C"	""	"likely pathogenic"	""
"0000733633"	"2"	"70"	"12"	"88447510"	"88447510"	"subst"	"0"	"00000"	"CEP290_000253"	"g.88447510G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88053733G>A"	""	"likely pathogenic"	""
"0000733716"	"2"	"70"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00000"	"CEP290_000033"	"g.88512326G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118549G>A"	""	"likely pathogenic"	""
"0000735600"	"0"	"90"	"12"	"88476860"	"88476860"	"subst"	"0"	"00000"	"CEP290_000262"	"g.88476860G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083083G>A"	""	"pathogenic"	""
"0000735601"	"0"	"90"	"12"	"88471064"	"88471064"	"dup"	"0"	"00000"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077287dup"	""	"pathogenic"	""
"0000735723"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000735724"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000735848"	"1"	"70"	"12"	"88508922"	"88508923"	"del"	"0"	"00000"	"CEP290_000437"	"g.88508922_88508923del"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88115145_88115146del"	""	"likely pathogenic"	""
"0000735868"	"2"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000735886"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"02485"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000735887"	"3"	"70"	"12"	"88453721"	"88453721"	"del"	"0"	"02485"	"CEP290_000106"	"g.88453721del"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	"c.6604delA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88059944del"	""	"likely pathogenic"	""
"0000735888"	"1"	"70"	"12"	"88443074"	"88443078"	"del"	"0"	"02485"	"CEP290_000433"	"g.88443074_88443078del"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	"c.7328_7332delAGAAG"	""	"Germline"	""	""	"0"	""	""	"g.88049297_88049301del"	""	"likely pathogenic"	""
"0000735889"	"1"	"70"	"12"	"88482813"	"88482813"	"del"	"0"	"02485"	"CEP290_000059"	"g.88482813del"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	"c.4028delA"	""	"Germline"	""	""	"0"	""	""	"g.88089036del"	""	"likely pathogenic"	""
"0000735953"	"2"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"02485"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000735954"	"2"	"70"	"12"	"88477732"	"88477732"	"subst"	"3.49078E-5"	"02485"	"CEP290_000009"	"g.88477732C>A"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88083955C>A"	""	"likely pathogenic"	""
"0000735955"	"2"	"70"	"12"	"88496677"	"88496677"	"subst"	"8.19894E-6"	"02485"	"CEP290_000436"	"g.88496677T>C"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88102900T>C"	""	"likely pathogenic"	""
"0000735987"	"1"	"70"	"12"	"88500578"	"88500578"	"subst"	"8.37696E-6"	"02485"	"CEP290_000201"	"g.88500578T>C"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.88106801T>C"	""	"likely pathogenic"	""
"0000735988"	"1"	"70"	"12"	"88484561"	"88484561"	"subst"	"9.87132E-5"	"02485"	"CEP290_000435"	"g.88484561G>T"	""	"{PMID:Bravo-Gil 2017:28157192}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.88090784G>T"	""	"likely pathogenic"	""
"0000736158"	"1"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00006"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Huang 2018:29641573}"	""	"c.1666_1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic (recessive)"	""
"0000736159"	"2"	"70"	"12"	"88473957"	"88473960"	"del"	"0"	"00006"	"CEP290_000431"	"g.88473957_88473960del"	""	"{PMID:Huang 2018:29641573}"	""	"c.5226 +5_8delGTAA"	""	"Germline"	""	""	"0"	""	""	"g.88080180_88080183del"	""	"likely pathogenic (recessive)"	""
"0000736197"	"1"	"90"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"00000"	"CEP290_000330"	"g.88480233C>G"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88086456C>G"	""	"pathogenic"	""
"0000736198"	"1"	"90"	"12"	"88453680"	"88453680"	"subst"	"0"	"00000"	"CEP290_000434"	"g.88453680T>A"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88059903T>A"	""	"pathogenic"	""
"0000736199"	"1"	"90"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"00000"	"CEP290_000224"	"g.88514835T>C"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88121058T>C"	""	"pathogenic"	""
"0000736252"	"2"	"90"	"12"	"88502942"	"88502942"	"del"	"0"	"00000"	"CEP290_000396"	"g.88502942del"	""	"{PMID:Bernardis 2016:28127548}"	""	"c.2390delA"	""	"Germline"	""	""	"0"	""	""	"g.88109165del"	""	"pathogenic"	""
"0000736253"	"2"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Bernardis 2016:28127548}"	""	"c.1219_1220delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	""
"0000736254"	"2"	"90"	"12"	"88534747"	"88534750"	"del"	"0"	"00000"	"CEP290_000012"	"g.88534747_88534750del"	""	"{PMID:Bernardis 2016:28127548}"	""	"c.164_167delCTCA"	""	"Germline"	""	""	"0"	""	""	"g.88140970_88140973del"	""	"pathogenic"	""
"0000736298"	"1"	"50"	"12"	"88444154"	"88561356"	"dup"	"0"	"00006"	"CEP290_000432"	"g.(?_88444154)_(88561356_?)dup"	""	"{PMID:Huang 2017:28118666}"	""	"Chr12:88444154-88561356dup"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000736299"	"0"	"30"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00006"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Huang 2017:28118666}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000736301"	"1"	"50"	"12"	"88444154"	"88561356"	"dup"	"0"	"00006"	"CEP290_000432"	"g.(?_88444154)_(88561356_?)dup"	""	"{PMID:Huang 2017:28118666}"	""	"chr12:88444154-88561356dup"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000736302"	"0"	"30"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"00006"	"CEP290_000007"	"g.88508258T>C"	""	"{PMID:Huang 2017:28118666}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000759723"	"21"	"50"	"12"	"88452716"	"88452716"	"subst"	"0"	"00000"	"CEP290_000438"	"g.88452716C>G"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	"hypomorph"	"Germline"	""	""	"0"	""	""	"g.88058939C>G"	""	"VUS"	""
"0000759724"	"21"	"50"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"00000"	"CEP290_000175"	"g.88454728A>G"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	"hypomorph"	"Germline"	""	""	"0"	""	""	"g.88060951A>G"	""	"VUS"	""
"0000759753"	"11"	"90"	"12"	"88465625"	"88465625"	"subst"	"0"	"00000"	"CEP290_000278"	"g.88465625T>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071848T>A"	""	"pathogenic"	""
"0000759755"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759756"	"1"	"90"	"12"	"88533308"	"88533308"	"subst"	"0"	"00000"	"CEP290_000378"	"g.88533308C>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139531C>A"	""	"pathogenic"	""
"0000759759"	"11"	"90"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88062786A>C"	""	"pathogenic"	""
"0000759760"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759763"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759773"	"11"	"90"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00000"	"CEP290_000033"	"g.88512326G>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118549G>A"	""	"pathogenic"	""
"0000759778"	"11"	"90"	"12"	"88465625"	"88465625"	"subst"	"0"	"00000"	"CEP290_000278"	"g.88465625T>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071848T>A"	""	"pathogenic"	""
"0000759781"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759783"	"2"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759785"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759796"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759803"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic"	""
"0000759824"	"1"	"70"	"12"	"88490692"	"88490692"	"subst"	"0"	"00000"	"CEP290_000443"	"g.88490692G>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.C3076T p.Q1026X"	""	"Germline"	""	""	"0"	""	""	"g.88096915G>A"	""	"likely pathogenic"	""
"0000759825"	"1"	"70"	"12"	"88508868"	"88508868"	"subst"	"0"	"00000"	"CEP290_000446"	"g.88508868A>G"	""	"{PMID:Wang 2016:27422788}"	""	"c.1910 + 7A > C NA"	""	"Germline"	""	""	"0"	""	""	"g.88115091A>G"	""	"likely pathogenic"	""
"0000759826"	"1"	"70"	"12"	"88508868"	"88508868"	"subst"	"0"	"00000"	"CEP290_000446"	"g.88508868A>G"	""	"{PMID:Wang 2016:27422788}"	""	"c.1910 + 7A > C NA"	""	"Germline"	""	""	"0"	""	""	"g.88115091A>G"	""	"likely pathogenic"	""
"0000759827"	"1"	"70"	"12"	"88535064"	"88535064"	"subst"	"0"	"00000"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.G21T p.W7C"	""	"Germline"	""	""	"0"	""	""	"g.88141287C>A"	""	"likely pathogenic"	""
"0000759828"	"1"	"70"	"12"	"88500790"	"88500790"	"subst"	"6.042E-6"	"00000"	"CEP290_000444"	"g.88500790T>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.A2569T p.K857X"	""	"Germline"	""	""	"0"	""	""	"g.88107013T>A"	""	"likely pathogenic"	""
"0000759858"	"2"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Wang 2016:27422788}"	""	"c.4661_4663del p.1554_1555del"	""	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000759859"	"2"	"70"	"12"	"88487607"	"88487607"	"dup"	"0"	"00000"	"CEP290_000421"	"g.88487607dup"	""	"{PMID:Wang 2016:27422788}"	""	"c.3249dupA p.R1084fs"	""	"Germline"	""	""	"0"	""	""	"g.88093830dup"	""	"likely pathogenic"	""
"0000759860"	"0"	"70"	"12"	"88452656"	"88452656"	"subst"	"0.000629774"	"00000"	"CEP290_000439"	"g.88452656T>C"	""	"{PMID:Wang 2016:27422788}"	""	"c.A6787G p.S2263G"	""	"Germline"	""	""	"0"	""	""	"g.88058879T>C"	""	"likely pathogenic"	""
"0000759861"	"0"	"70"	"12"	"88490671"	"88490671"	"subst"	"0"	"00000"	"CEP290_000422"	"g.88490671T>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.A3097T p.K1033X"	""	"Germline"	""	""	"0"	""	""	"g.88096894T>A"	""	"likely pathogenic"	""
"0000759862"	"2"	"70"	"12"	"88472910"	"88472910"	"dup"	"0"	"00000"	"CEP290_000440"	"g.88472910dup"	""	"{PMID:Wang 2016:27422788}"	""	"c.5324dupA p.N1775fs"	""	"Germline"	""	""	"0"	""	""	"g.88079133dup"	""	"likely pathogenic"	""
"0000759863"	"2"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Wang 2016:27422788}"	""	"c.4661_4663del p.1554_1555del"	""	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000759929"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000759930"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000759955"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic (recessive)"	""
"0000759956"	"2"	"90"	"12"	"88453721"	"88453721"	"del"	"0"	"00000"	"CEP290_000106"	"g.88453721del"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88059944del"	""	"pathogenic (recessive)"	""
"0000759983"	"0"	"50"	"12"	"88478545"	"88478545"	"subst"	"8.14936E-6"	"00000"	"CEP290_000286"	"g.88478545G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88084768G>A"	""	"VUS"	""
"0000760170"	"0"	"70"	"12"	"88476856"	"88476857"	"del"	"0"	"00000"	"CEP290_000077"	"g.88476856_88476857del"	""	"{PMID:Ellingford 2016:27208204}"	""	"4966_4967delGA"	""	"Germline"	""	""	"0"	""	""	"g.88083079_88083080del"	""	"likely pathogenic"	""
"0000760182"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000760188"	"0"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Ellingford 2016:27208204}"	""	"4661_4663delAAG"	""	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000760191"	"0"	"70"	"12"	"88465567"	"88465567"	"del"	"0"	"00000"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Ellingford 2016:27208204}"	""	"5850delT"	""	"Germline"	""	""	"0"	""	""	"g.88071790del"	""	"likely pathogenic"	""
"0000760193"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000760211"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000760214"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000760215"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000760216"	"0"	"70"	"12"	"88519134"	"88519134"	"subst"	"0"	"00000"	"CEP290_000447"	"g.88519134G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88125357G>A"	""	"likely pathogenic"	""
"0000760222"	"0"	"50"	"12"	"88487675"	"88487676"	"del"	"0"	"00000"	"CEP290_000158"	"g.88487675_88487676del"	""	"{PMID:Ellingford 2016:27208204}"	""	"3181_3182delAT"	""	"Germline"	""	""	"0"	""	""	"g.88093898_88093899del"	""	"VUS"	""
"0000760226"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000760316"	"0"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000760401"	"0"	"50"	"12"	"88532921"	"88532921"	"subst"	"0"	"00000"	"CEP290_000448"	"g.88532921C>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139144C>A"	""	"VUS"	""
"0000760430"	"0"	"70"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"00000"	"CEP290_000296"	"g.88465636C>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071859C>G"	""	"likely pathogenic"	""
"0000760439"	"0"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000760440"	"0"	"50"	"12"	"88510853"	"88510853"	"subst"	"2.26626E-5"	"00000"	"CEP290_000156"	"g.88510853A>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88117076A>T"	""	"VUS"	""
"0000760446"	"0"	"70"	"12"	"88474003"	"88474003"	"subst"	"1.63879E-5"	"00000"	"CEP290_000417"	"g.88474003C>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88080226C>A"	""	"likely pathogenic"	""
"0000760449"	"0"	"50"	"12"	"88477635"	"88477635"	"subst"	"0"	"00000"	"CEP290_000442"	"g.88477635G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083858G>A"	""	"VUS"	""
"0000760450"	"0"	"50"	"12"	"88508196"	"88508197"	"del"	"0"	"00000"	"CEP290_000445"	"g.88508196_88508197del"	""	"{PMID:Ellingford 2016:27208204}"	""	"2052+1_2052+2delGT"	""	"Germline"	""	""	"0"	""	""	"g.88114419_88114420del"	""	"VUS"	""
"0000760451"	"0"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000760454"	"0"	"70"	"12"	"88524986"	"88524986"	"subst"	"0"	"00000"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88131209G>A"	""	"likely pathogenic"	""
"0000760456"	"0"	"70"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083077C>A"	""	"likely pathogenic"	""
"0000760493"	"0"	"50"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88140988G>A"	""	"VUS"	""
"0000760601"	"1"	"90"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Khan 2017:27160483}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88140988G>A"	""	"pathogenic"	""
"0000760611"	"2"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Khan 2017:27160483}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000760662"	"3"	"90"	"12"	"88472979"	"88472979"	"subst"	"1.75091E-5"	"00000"	"CEP290_000441"	"g.88472979G>A"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88079202G>A"	""	"pathogenic"	""
"0000763893"	"1"	"70"	"12"	"88487547"	"88487547"	"subst"	"0"	"00006"	"CEP290_000450"	"g.88487547C>G"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88093770C>G"	""	"likely pathogenic (recessive)"	""
"0000763973"	"2"	"70"	"12"	"88443077"	"88443078"	"ins"	"0"	"00006"	"CEP290_000449"	"g.88443077_88443078insCTTCT"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88049300_88049301insCTTCT"	""	"likely pathogenic (recessive)"	""
"0000764924"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic (recessive)"	""
"0000764929"	"1"	"70"	"12"	"88486609"	"88486610"	"delins"	"0"	"00000"	"CEP290_000125"	"g.88486609_88486610delinsTT"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88092832_88092833delinsTT"	""	"likely pathogenic (recessive)"	""
"0000764944"	"2"	"70"	"12"	"88472979"	"88472979"	"subst"	"1.75091E-5"	"00000"	"CEP290_000441"	"g.88472979G>A"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88079202G>A"	""	"likely pathogenic (recessive)"	""
"0000764947"	"2"	"70"	"12"	"88465588"	"88465588"	"subst"	"0"	"00000"	"CEP290_000451"	"g.88465588T>G"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88071811T>G"	""	"likely pathogenic (recessive)"	""
"0000765489"	"1"	"70"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"00000"	"CEP290_000243"	"g.88530494G>A"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.88136717G>A"	""	"likely pathogenic"	""
"0000765504"	"2"	"70"	"12"	"88502856"	"88502856"	"subst"	"1.31399E-5"	"00000"	"CEP290_000453"	"g.88502856T>C"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.88109079T>C"	""	"likely pathogenic"	""
"0000765554"	"1"	"90"	"12"	"88471651"	"88471651"	"subst"	"0"	"00000"	"CEP290_000452"	"g.88471651T>G"	""	"{PMID:Ge 2015:26667666}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077874T>G"	""	"pathogenic"	""
"0000765594"	"2"	"90"	"12"	"88465567"	"88465567"	"del"	"0"	"00000"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Ge 2015:26667666}"	""	"5850delT"	""	"Germline"	""	""	"0"	""	""	"g.88071790del"	""	"pathogenic"	""
"0000765697"	"21"	"90"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"00000"	"CEP290_000175"	"g.88454728A>G"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs117852025"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000765698"	"21"	"90"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"00000"	"CEP290_000175"	"g.88454728A>G"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs117852025"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000765736"	"11"	"90"	"12"	"88480276"	"88480276"	"subst"	"5.08326E-6"	"00000"	"CEP290_000128"	"g.88480276C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000765737"	"11"	"90"	"12"	"88480276"	"88480276"	"subst"	"5.08326E-6"	"00000"	"CEP290_000128"	"g.88480276C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000765793"	"0"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000783258"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Vamos 2016:26165328}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000783261"	"2"	"90"	"12"	"88476893"	"88476893"	"del"	"0"	"00000"	"CEP290_000459"	"g.88476893del"	""	"{PMID:Vamos 2016:26165328}"	""	"4942delA"	""	"Germline"	""	""	"0"	""	""	"g.88083116del"	""	"pathogenic (recessive)"	""
"0000783432"	"1"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783433"	"1"	"90"	"12"	"88456549"	"88456549"	"del"	"5.26848E-5"	"00000"	"CEP290_000105"	"g.88456549del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.6277delG"	""	"Germline"	""	""	"0"	""	""	"g.88062772del"	""	"pathogenic"	""
"0000783434"	"1"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000783435"	"1"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000783436"	"1"	"90"	"12"	"88471097"	"88471100"	"del"	"0"	"00000"	"CEP290_000090"	"g.88471097_88471100del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5611_5614delCAAA"	""	"Germline"	""	""	"0"	""	""	"g.88077320_88077323del"	""	"pathogenic"	""
"0000783437"	"1"	"90"	"12"	"88512314"	"88512314"	"dup"	"0"	"00000"	"CEP290_000354"	"g.88512314dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1666dupA"	""	"Germline"	""	""	"0"	""	""	"g.88118537dup"	""	"pathogenic"	""
"0000783438"	"1"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4723A>T"	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000783439"	"1"	"90"	"12"	"88534747"	"88534750"	"del"	"0"	"00000"	"CEP290_000012"	"g.88534747_88534750del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.164_167delCTCA"	""	"Germline"	""	""	"0"	""	""	"g.88140970_88140973del"	""	"pathogenic"	""
"0000783440"	"3"	"90"	"12"	"88479870"	"88479870"	"del"	"0"	"00000"	"CEP290_000461"	"g.88479870del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4384delG"	""	"Germline"	""	""	"0"	""	""	"g.88086093del"	""	"pathogenic"	""
"0000783441"	"3"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4393C>T"	""	"Germline"	""	""	"0"	""	""	"g.88086083G>A"	""	"pathogenic"	""
"0000783442"	"1"	"90"	"12"	"88505577"	"88505577"	"del"	"0"	"00000"	"CEP290_000465"	"g.88505577del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.2112delA"	""	"Germline"	""	""	"0"	""	""	"g.88111800del"	""	"pathogenic"	""
"0000783443"	"1"	"90"	"12"	"88478616"	"88478619"	"del"	"0"	"00000"	"CEP290_000418"	"g.88478616_88478619del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4452_4455delAGAA"	""	"Germline"	""	""	"0"	""	""	"g.88084839_88084842del"	""	"pathogenic"	""
"0000783444"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783445"	"3"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000783446"	"3"	"90"	"12"	"88487680"	"88487680"	"del"	"0"	"00000"	"CEP290_000056"	"g.88487680del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3176delT"	""	"Germline"	""	""	"0"	""	""	"g.88093903del"	""	"pathogenic"	""
"0000783447"	"3"	"90"	"12"	"88487680"	"88487680"	"del"	"0"	"00000"	"CEP290_000056"	"g.88487680del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3176delT"	""	"Germline"	""	""	"0"	""	""	"g.88093903del"	""	"pathogenic"	""
"0000783448"	"3"	"90"	"12"	"88487680"	"88487680"	"del"	"0"	"00000"	"CEP290_000056"	"g.88487680del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3176delT"	""	"Germline"	""	""	"0"	""	""	"g.88093903del"	""	"pathogenic"	""
"0000783449"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783450"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783451"	"1"	"90"	"12"	"88524060"	"88524060"	"subst"	"0"	"00000"	"CEP290_000468"	"g.88524060A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.654T>G"	""	"Germline"	""	""	"0"	""	""	"g.88130283A>C"	""	"pathogenic"	""
"0000783452"	"1"	"90"	"12"	"88512419"	"88512419"	"subst"	"0"	"00000"	"CEP290_000467"	"g.88512419C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1623+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.88118642C>T"	""	"pathogenic"	""
"0000783453"	"1"	"90"	"12"	"88476856"	"88476857"	"del"	"0"	"00000"	"CEP290_000077"	"g.88476856_88476857del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4966_4967delGA"	""	"Germline"	""	""	"0"	""	""	"g.88083079_88083080del"	""	"pathogenic"	""
"0000783454"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783455"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783456"	"3"	"90"	"12"	"88471004"	"88471004"	"subst"	"0"	"00000"	"CEP290_000390"	"g.88471004C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5704G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077227C>A"	""	"pathogenic"	""
"0000783457"	"1"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4723A>T"	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000783458"	"1"	"90"	"12"	"88449374"	"88449374"	"subst"	"0"	"00000"	"CEP290_000455"	"g.88449374G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.6939C>A"	""	"Germline"	""	""	"0"	""	""	"g.88055597G>T"	""	"pathogenic"	""
"0000783459"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783460"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783461"	"1"	"90"	"12"	"88534811"	"88534811"	"subst"	"0"	"00000"	"CEP290_000469"	"g.88534811C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.103-1G>T"	""	"Germline"	""	""	"0"	""	""	"g.88141034C>A"	""	"pathogenic"	""
"0000783462"	"3"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1666delA"	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000783463"	"1"	"90"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3175dupA"	""	"Germline"	""	""	"0"	""	""	"g.88093911dup"	""	"pathogenic"	""
"0000783585"	"1"	"70"	"12"	"88462362"	"88462362"	"subst"	"0"	"00000"	"CEP290_000102"	"g.88462362G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.6072C>A"	""	"Germline"	""	""	"0"	""	""	"g.88068585G>T"	""	"likely pathogenic"	""
"0000783586"	"1"	"70"	"12"	"88462362"	"88462362"	"subst"	"0"	"00000"	"CEP290_000102"	"g.88462362G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.6072C>A"	""	"Germline"	""	""	"0"	""	""	"g.88068585G>T"	""	"likely pathogenic"	""
"0000783672"	"2"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00000"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1984C>T"	""	"Germline"	""	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic"	""
"0000783673"	"2"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00000"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1984C>T"	""	"Germline"	""	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic"	""
"0000783674"	"2"	"90"	"12"	"88482934"	"88482934"	"subst"	"0"	"00000"	"CEP290_000372"	"g.88482934G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3904C>T"	""	"Germline"	""	""	"0"	""	""	"g.88089157G>A"	""	"pathogenic"	""
"0000783675"	"2"	"90"	"12"	"88482934"	"88482934"	"subst"	"0"	"00000"	"CEP290_000372"	"g.88482934G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3904C>T"	""	"Germline"	""	""	"0"	""	""	"g.88089157G>A"	""	"pathogenic"	""
"0000783676"	"2"	"90"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4882C>T"	""	"Germline"	""	""	"0"	""	""	"g.88083161G>A"	""	"pathogenic"	""
"0000783677"	"2"	"90"	"12"	"88472889"	"88472889"	"subst"	"2.63532E-5"	"00000"	"CEP290_000083"	"g.88472889G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5344C>T"	""	"Germline"	""	""	"0"	""	""	"g.88079112G>A"	""	"pathogenic"	""
"0000783678"	"2"	"90"	"12"	"88524060"	"88524060"	"subst"	"0"	"00000"	"CEP290_000468"	"g.88524060A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.654T>G"	""	"Germline"	""	""	"0"	""	""	"g.88130283A>C"	""	"pathogenic"	""
"0000783679"	"2"	"90"	"12"	"88465150"	"88465150"	"subst"	"1.22652E-5"	"00000"	"CEP290_000099"	"g.88465150G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5932C>T"	""	"Germline"	""	""	"0"	""	""	"g.88071373G>A"	""	"pathogenic"	""
"0000783680"	"2"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4723A>T"	""	"Germline"	""	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0000783681"	"2"	"90"	"12"	"88487671"	"88487671"	"del"	"0"	"00000"	"CEP290_000462"	"g.88487671del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.3185delT"	""	"Germline"	""	""	"0"	""	""	"g.88093894del"	""	"pathogenic"	""
"0000783682"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783683"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783684"	"2"	"90"	"12"	"88535064"	"88535064"	"subst"	"0"	"00000"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.21G>T"	""	"Germline"	""	""	"0"	""	""	"g.88141287C>A"	""	"pathogenic"	""
"0000783685"	"2"	"90"	"12"	"88478545"	"88478545"	"subst"	"8.14936E-6"	"00000"	"CEP290_000286"	"g.88478545G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.4522C>T"	""	"Germline"	""	""	"0"	""	""	"g.88084768G>A"	""	"pathogenic"	""
"0000783686"	"2"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.1219_1220delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	""
"0000783687"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783688"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.5668G>T"	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000783757"	"2"	"70"	"12"	"88505003"	"88505003"	"subst"	"2.06292E-5"	"00000"	"CEP290_000044"	"g.88505003A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.2343T>C"	""	"Germline"	""	""	"0"	""	""	"g.88111226A>G"	""	"likely pathogenic"	""
"0000783758"	"2"	"70"	"12"	"88505003"	"88505003"	"subst"	"2.06292E-5"	"00000"	"CEP290_000044"	"g.88505003A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_025114.3:c.2343T>C"	""	"Germline"	""	""	"0"	""	""	"g.88111226A>G"	""	"likely pathogenic"	""
"0000783786"	"1"	"90"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00000"	"CEP290_000033"	"g.88512326G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118549G>A"	""	"pathogenic"	""
"0000783801"	"1"	"90"	"12"	"88449443"	"88449443"	"del"	"0"	"00000"	"CEP290_000108"	"g.88449443del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88055666del"	""	"pathogenic"	""
"0000783802"	"1"	"90"	"12"	"88500772"	"88500772"	"subst"	"0"	"00000"	"CEP290_000463"	"g.88500772C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88106995C>T"	""	"pathogenic"	""
"0000783803"	"1"	"90"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88089250G>A"	""	"pathogenic"	""
"0000783804"	"1"	"90"	"12"	"88442963"	"88442963"	"subst"	"0"	"00000"	"CEP290_000454"	"g.88442963A>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88049186A>G"	""	"pathogenic"	""
"0000783805"	"1"	"90"	"12"	"88449443"	"88449443"	"del"	"0"	"00000"	"CEP290_000108"	"g.88449443del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88055666del"	""	"pathogenic"	""
"0000783806"	"1"	"90"	"12"	"88513984"	"88513984"	"subst"	"0"	"00000"	"CEP290_000373"	"g.88513984G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88120207G>A"	""	"pathogenic"	""
"0000783841"	"1"	"50"	"12"	"88462424"	"88462424"	"subst"	"0"	"00000"	"CEP290_000457"	"g.88462424T>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068647T>C"	""	"VUS"	""
"0000783842"	"1"	"50"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00000"	"CEP290_000033"	"g.88512326G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118549G>A"	""	"VUS"	""
"0000783900"	"2"	"90"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"pathogenic"	""
"0000783904"	"2"	"90"	"12"	"88472987"	"88472987"	"subst"	"0"	"00000"	"CEP290_000458"	"g.88472987A>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88079210A>C"	""	"pathogenic"	""
"0000783905"	"2"	"90"	"12"	"88500877"	"88500877"	"subst"	"0"	"00000"	"CEP290_000464"	"g.88500877T>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88107100T>C"	""	"pathogenic"	""
"0000783906"	"2"	"90"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"00000"	"CEP290_000243"	"g.88530494G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88136717G>A"	""	"pathogenic"	""
"0000783907"	"2"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000783908"	"2"	"90"	"12"	"88462424"	"88462424"	"subst"	"0"	"00000"	"CEP290_000457"	"g.88462424T>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068647T>C"	""	"pathogenic"	""
"0000783909"	"2"	"90"	"12"	"88478630"	"88478630"	"subst"	"0"	"00000"	"CEP290_000460"	"g.88478630C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88084853C>T"	""	"pathogenic"	""
"0000783935"	"2"	"50"	"12"	"88462422"	"88462422"	"subst"	"0"	"00000"	"CEP290_000456"	"g.88462422C>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88068645C>G"	""	"VUS"	""
"0000783936"	"2"	"50"	"12"	"88508270"	"88508270"	"subst"	"0"	"00000"	"CEP290_000466"	"g.88508270T>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88114493T>A"	""	"VUS"	""
"0000785417"	"0"	"50"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"00000"	"CEP290_000276"	"g.88533296C>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139519C>T"	""	"VUS"	""
"0000785424"	"0"	"50"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"00000"	"CEP290_000276"	"g.88533296C>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139519C>T"	""	"VUS"	""
"0000785426"	"0"	"50"	"12"	"88456506"	"88456506"	"subst"	"5.31378E-5"	"00000"	"CEP290_000471"	"g.88456506T>C"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88062729T>C"	""	"VUS"	""
"0000785441"	"0"	"50"	"12"	"88452772"	"88452772"	"subst"	"4.09967E-6"	"00000"	"CEP290_000470"	"g.88452772C>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88058995C>T"	""	"VUS"	""
"0000785969"	"0"	"55"	"12"	"88465563"	"88465563"	"del"	"0"	"00008"	"CEP290_000473"	"g.88465563delA"	""	"{PMID:Tory 2007:17409309}"	""	"c.5850 del T (F1950fsX1964)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785970"	"0"	"99"	"12"	"88471059"	"88471059"	"dup"	"0"	"00008"	"CEP290_000091"	"g.88471059dup"	""	"{PMID:Tory 2007:17409309}"	""	"c.5649 ins A (L1884fsX1906)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000785971"	"1"	"77"	"12"	"88465563"	"88465563"	"del"	"0"	"00008"	"CEP290_000473"	"g.88465563delA"	""	"{PMID:Tory 2007:17409309}"	""	"c.5850 del T (F1950fsX1964)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000785972"	"0"	"77"	"12"	"88476856"	"88476857"	"del"	"0"	"00008"	"CEP290_000474"	"g.88476856_88476857delCT"	""	"{PMID:Tory 2007:17409309}"	""	"c.4963–4964 del AG, (R1655fsX1659pot abn transc)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000785973"	"0"	"99"	"12"	"88534823"	"88534828"	"del"	"0"	"00008"	"CEP290_000127"	"g.88534823_88534828del"	""	"{PMID:Tory 2007:17409309}"	""	"c.103-13 to -18 del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000785974"	"0"	"77"	"12"	"88505095"	"88505095"	"subst"	"0"	"00008"	"CEP290_000046"	"g.88505095G>A"	""	"{PMID:Tory 2007:17409309}"	""	"c.2251 C>T,  c.6869 del A (R751XN2290fsX2300)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000785975"	"0"	"55"	"12"	"88449444"	"88449444"	"del"	"0"	"00008"	"CEP290_000472"	"g.88449444delT"	""	"{PMID:Tory 2007:17409309}"	""	"c.2251 C>T,  c.6869 del A (R751XN2290fsX2300)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785976"	"0"	"77"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00008"	"CEP290_000033"	"g.88512326G>A"	""	"{PMID:Tory 2007:17409309}"	""	"c.1645 C>T,  c.5649 ins A (R549XL1884fsX1906)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000785977"	"0"	"55"	"12"	"88471059"	"88471059"	"dup"	"0"	"00008"	"CEP290_000091"	"g.88471059dup"	""	"{PMID:Tory 2007:17409309}"	""	"c.1645 C>T,  c.5649 ins A (R549XL1884fsX1906)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785978"	"0"	"77"	"12"	"88471059"	"88471059"	"dup"	"0"	"00008"	"CEP290_000091"	"g.88471059dup"	""	"{PMID:Tory 2007:17409309}"	""	"c.5649 ins A,  c.4195-1 G>A (L1884fsX1906abn transc)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000785979"	"0"	"55"	"12"	"88480276"	"88480276"	"subst"	"5.08326E-6"	"00008"	"CEP290_000128"	"g.88480276C>T"	""	"{PMID:Tory 2007:17409309}"	""	"c.5649 ins A,  c.4195-1 G>A (L1884fsX1906abn transc)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785980"	"0"	"77"	"12"	"88486610"	"88486610"	"subst"	"0"	"00008"	"CEP290_000126"	"g.88486610C>G"	""	"{PMID:Tory 2007:17409309}"	""	"c.3310-1 G>C,  c.6271-8 T>G (abn transcpot abn transc)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000785981"	"0"	"55"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00008"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Tory 2007:17409309}"	""	"c.3310-1 G>C,  c.6271-8 T>G (abn transcpot abn transc)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785983"	"0"	"55"	"12"	"88532932"	"88532932"	"del"	"0"	"00008"	"CEP290_000014"	"g.88532932del"	""	"{PMID:Tory 2007:17409309}"	""	"c.287 del A (N96fsX124)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785985"	"0"	"55"	"12"	"88532932"	"88532932"	"del"	"0"	"00008"	"CEP290_000014"	"g.88532932del"	""	"{PMID:Tory 2007:17409309}"	""	"c.287 del A (N96fsX124)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785992"	"0"	"55"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00008"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Tory 2007:17409309}"	""	"G829C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785995"	"0"	"55"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"00008"	"CEP290_000189"	"g.88472996C>T"	""	"{PMID:Tory 2007:17409309}"	""	"G5237A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786000"	"0"	"55"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00008"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Tory 2007:17409309}"	""	"G829C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786009"	"0"	"55"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"00008"	"CEP290_000048"	"g.88500847T>C"	""	"{PMID:Tory 2007:17409309}"	""	"A2512G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786011"	"0"	"55"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"00008"	"CEP290_000007"	"g.88508258T>C"	""	"{PMID:Tory 2007:17409309}"	""	"A1991G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786012"	"0"	"55"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"00008"	"CEP290_000048"	"g.88500847T>C"	""	"{PMID:Tory 2007:17409309}"	""	"A2512G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786014"	"0"	"77"	"12"	"88514052"	"88514052"	"del"	"0"	"00008"	"CEP290_000478"	"g.88514052delC"	""	"{PMID:Tory 2007:17409309}"	""	"c.1361 del G,  c.6869 del A (G454fsX458N2290fsX2300)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000786015"	"0"	"77"	"12"	"88449444"	"88449444"	"del"	"0"	"00008"	"CEP290_000472"	"g.88449444delT"	""	"{PMID:Tory 2007:17409309}"	""	"c.1361 del G,  c.6869 del A (G454fsX458N2290fsX2300)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000786017"	"1"	"55"	"12"	"88508258"	"88508258"	"subst"	"0.0335273"	"00008"	"CEP290_000007"	"g.88508258T>C"	""	"{PMID:Tory 2007:17409309}"	""	"A1991G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786018"	"1"	"55"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"00008"	"CEP290_000048"	"g.88500847T>C"	""	"{PMID:Tory 2007:17409309}"	""	"A2512G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786019"	"1"	"55"	"12"	"88500847"	"88500847"	"subst"	"0.0790705"	"00008"	"CEP290_000048"	"g.88500847T>C"	""	"{PMID:Tory 2007:17409309}"	""	"A2512G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786020"	"1"	"55"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"00008"	"CEP290_000189"	"g.88472996C>T"	""	"{PMID:Tory 2007:17409309}"	""	"G5237A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786022"	"1"	"55"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00008"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Tory 2007:17409309}"	""	"G829C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786024"	"1"	"55"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00008"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Tory 2007:17409309}"	""	"G829C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000786423"	"1"	"90"	"12"	"88487732"	"88487732"	"dup"	"0"	"00000"	"CEP290_000476"	"g.88487732dup"	""	"{PMID:Consugar 2015:25412400}"	""	"3124dupA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88093955dup"	""	"pathogenic (recessive)"	""
"0000786482"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000786518"	"1"	"70"	"12"	"88487754"	"88487754"	"del"	"0"	"00000"	"CEP290_000477"	"g.88487754del"	"1/314 cases"	"{PMID:Shen 2015:25377065}"	""	"3104-2delA"	""	"Germline"	""	""	"0"	""	""	"g.88093977del"	""	"likely pathogenic"	""
"0000786520"	"2"	"70"	"12"	"88481711"	"88481711"	"subst"	"0"	"00000"	"CEP290_000475"	"g.88481711C>T"	"1/314 cases"	"{PMID:Shen 2015:25377065}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88087934C>T"	""	"likely pathogenic"	""
"0000786785"	"0"	"90"	"12"	"88504981"	"88504981"	"subst"	"0"	"00006"	"CEP290_000484"	"g.88504981G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88111204G>A"	""	"pathogenic"	""
"0000786786"	"3"	"70"	"12"	"88480251"	"88480251"	"del"	"0"	"00006"	"CEP290_000482"	"g.88480251del"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.4219delT"	""	"Germline"	""	""	"0"	""	""	"g.88086474del"	""	"likely pathogenic"	""
"0000786787"	"3"	"70"	"12"	"88477644"	"88477644"	"subst"	"0"	"00006"	"CEP290_000481"	"g.88477644T>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083867T>A"	""	"likely pathogenic"	""
"0000786788"	"3"	"70"	"12"	"88471064"	"88471064"	"del"	"0"	"00006"	"CEP290_000480"	"g.88471064del"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.5649delA"	""	"Germline"	""	""	"0"	""	""	"g.88077287del"	""	"likely pathogenic"	""
"0000786789"	"3"	"70"	"12"	"88465644"	"88465647"	"del"	"0"	"00006"	"CEP290_000479"	"g.88465644_88465647del"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.5766_5769delAGAA"	""	"Germline"	""	""	"0"	""	""	"g.88071867_88071870del"	""	"likely pathogenic"	""
"0000787230"	"3"	"50"	"12"	"88512260"	"88512260"	"subst"	"0"	"00006"	"CEP290_000427"	"g.88512260C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118483C>T"	""	"VUS"	""
"0000787231"	"3"	"50"	"12"	"88512260"	"88512260"	"subst"	"0"	"00006"	"CEP290_000427"	"g.88512260C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118483C>T"	""	"VUS"	""
"0000787232"	"3"	"50"	"12"	"88512260"	"88512260"	"subst"	"0"	"00006"	"CEP290_000427"	"g.88512260C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88118483C>T"	""	"VUS"	""
"0000787455"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000787683"	"1"	"70"	"12"	"88524986"	"88524986"	"subst"	"0"	"00000"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88131209G>A"	""	"likely pathogenic"	""
"0000787727"	"2"	"70"	"12"	"88480276"	"88480276"	"subst"	"5.08326E-6"	"00000"	"CEP290_000483"	"g.88480276C>G"	""	"0"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88086499C>G"	""	"likely pathogenic"	""
"0000788487"	"0"	"50"	"12"	"88523587"	"88523587"	"subst"	"0"	"00000"	"CEP290_000485"	"g.88523587A>G"	""	"{PMID:Katagiri 2014:25268133}"	""	"T736C"	""	"Germline"	""	""	"0"	""	""	"g.88129810A>G"	""	"VUS"	""
"0000789839"	"0"	"70"	"12"	"88512305"	"88512305"	"del"	"0.00174928"	"00000"	"CEP290_000030"	"g.88512305del"	""	"{PMID:Avela 2019:31087526}"	""	"c.1666delA"	"Check also: Hollander 2006"	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790400"	"3"	"70"	"12"	"88500684"	"88500684"	"subst"	"0"	"00000"	"CEP290_000489"	"g.88500684T>C"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88106907T>C"	""	"likely pathogenic"	""
"0000790401"	"1"	"70"	"12"	"88532921"	"88532921"	"subst"	"0"	"00000"	"CEP290_000448"	"g.88532921C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139144C>A"	""	"likely pathogenic"	""
"0000790405"	"1"	"70"	"12"	"88519134"	"88519134"	"subst"	"0"	"00000"	"CEP290_000447"	"g.88519134G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88125357G>A"	""	"likely pathogenic"	""
"0000790425"	"1"	"70"	"12"	"88476986"	"88476987"	"del"	"0"	"00000"	"CEP290_000487"	"g.88476986_88476987del"	""	"{PMID:Wang 2014:25097241}"	""	"c.4834_4835delAC"	""	"Germline"	""	""	"0"	""	""	"g.88083209_88083210del"	""	"likely pathogenic"	""
"0000790451"	"0"	"50"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"VUS"	""
"0000790455"	"2"	"50"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"00000"	"CEP290_000175"	"g.88454728A>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88060951A>G"	""	"VUS"	""
"0000790465"	"2"	"50"	"12"	"88449458"	"88449462"	"del"	"0"	"00000"	"CEP290_000486"	"g.88449458_88449462del"	""	"{PMID:Wang 2014:25097241}"	""	"c.6851_6855delCTGAT"	""	"Germline"	""	""	"0"	""	""	"g.88055681_88055685del"	""	"VUS"	""
"0000790470"	"0"	"50"	"12"	"88502893"	"88502893"	"subst"	"0"	"00000"	"CEP290_000490"	"g.88502893T>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88109116T>A"	""	"VUS"	""
"0000790484"	"0"	"50"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"VUS"	""
"0000790493"	"0"	"50"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"VUS"	""
"0000790507"	"0"	"50"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"00000"	"CEP290_000341"	"g.88496626C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs182369459"	"0"	""	""	"g.88102849C>T"	""	"VUS"	""
"0000790512"	"0"	"50"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"00000"	"CEP290_000189"	"g.88472996C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs61941020"	"0"	""	""	"g.88079219C>T"	""	"VUS"	""
"0000790547"	"0"	"50"	"12"	"88481663"	"88481663"	"subst"	"4.68384E-5"	"00000"	"CEP290_000488"	"g.88481663C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs188502327"	"0"	""	""	"g.88087886C>T"	""	"VUS"	""
"0000790557"	"2"	"50"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"00000"	"CEP290_000341"	"g.88496626C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88102849C>T"	""	"VUS"	""
"0000790566"	"0"	"50"	"12"	"88500654"	"88500654"	"subst"	"0.000268632"	"00000"	"CEP290_000150"	"g.88500654G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88106877G>A"	""	"VUS"	""
"0000790574"	"0"	"50"	"12"	"88514029"	"88514029"	"subst"	"7.42431E-5"	"00000"	"CEP290_000491"	"g.88514029C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88120252C>T"	""	"VUS"	""
"0000790576"	"0"	"50"	"12"	"88500602"	"88500602"	"subst"	"0.000104914"	"00000"	"CEP290_000202"	"g.88500602C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs142038791"	"0"	""	""	"g.88106825C>A"	""	"VUS"	""
"0000790625"	"0"	"50"	"12"	"88524080"	"88524080"	"subst"	"8.41708E-6"	"00000"	"CEP290_000492"	"g.88524080T>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88130303T>A"	""	"VUS"	""
"0000790644"	"0"	"50"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"VUS"	""
"0000790653"	"0"	"50"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"VUS"	""
"0000791125"	"10"	"90"	"12"	"88448124"	"88448124"	"del"	"0"	"00000"	"CEP290_000493"	"g.88448124del"	"0,00025 (in-house database, ~5000 samples)"	"{PMID:Tracewska 2020:33105651}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88054347del"	""	"pathogenic"	"ACMG"
"0000791160"	"11"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00000"	"CEP290_000040"	"g.88508265G>A"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic"	"ACMG"
"0000791165"	"21"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	"0,0006 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000791173"	"11"	"90"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	"0,00012 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88083081_88083082del"	""	"pathogenic"	"ACMG"
"0000791177"	"0"	"90"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	"0,00086 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88083161G>A"	""	"pathogenic"	"ACMG"
"0000791237"	"21"	"90"	"12"	"88533270"	"88533270"	"subst"	"0"	"00000"	"CEP290_000494"	"g.88533270A>G"	"0 (in-house database, ~5000 samples)"	"{PMID:Tracewska 2020:33105651}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88139493A>G"	""	"pathogenic"	"ACMG"
"0000791247"	"21"	"50"	"12"	"88533299"	"88533299"	"subst"	"4.23506E-6"	"00000"	"CEP290_000495"	"g.88533299T>C"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88139522T>C"	""	"VUS"	"ACMG"
"0000791248"	"11"	"70"	"12"	"88533337"	"88533337"	"subst"	"0"	"00000"	"CEP290_000496"	"g.88533337T>C"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88139560T>C"	""	"likely pathogenic"	"ACMG"
"0000791251"	"21"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	"0,0006 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000791580"	"21"	"90"	"12"	"88502942"	"88502942"	"del"	"0"	"00000"	"CEP290_000396"	"g.88502942del"	""	"{PMID:Hosono 2018:29844330}"	""	"c.2390delA"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.88109165del"	""	"pathogenic"	"ACMG"
"0000791601"	"0"	"50"	"12"	"88514788"	"88514788"	"subst"	"3.27525E-5"	"00000"	"CEP290_000499"	"g.88514788T>C"	""	"{PMID:Hosono 2018:29844330}"	""	"c.1345A>G"	"single heterozygous variant"	"Germline"	"no"	"rs201527662"	"0"	""	""	"g.88121011T>C"	""	"VUS"	"ACMG"
"0000791606"	"0"	"50"	"12"	"88465198"	"88465198"	"subst"	"0"	"00000"	"CEP290_000498"	"g.88465198T>A"	""	"{PMID:Hosono 2018:29844330}"	""	"c.5884A>T"	"single heterozygous variant, probably not causative in the patient"	"Germline"	"no"	""	"0"	""	""	"g.88071421T>A"	""	"VUS"	"ACMG"
"0000791611"	"11"	"90"	"12"	"88449424"	"88449424"	"subst"	"0"	"00000"	"CEP290_000497"	"g.88449424T>A"	""	"{PMID:Hosono 2018:29844330}"	""	"c.6889A>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.88055647T>A"	""	"pathogenic"	"ACMG"
"0000791757"	"0"	"70"	"12"	"88474003"	"88474003"	"subst"	"1.63879E-5"	"00000"	"CEP290_000417"	"g.88474003C>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5182G>T; p.E1728*"	""	"Germline"	"?"	""	"0"	""	""	"g.88080226C>A"	""	"likely pathogenic"	""
"0000791758"	"0"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4882C>T; p.G1628*"	""	"Germline"	"?"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000791759"	"0"	"70"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4966G>T; p.E16556*"	""	"Germline"	"?"	""	"0"	""	""	"g.88083077C>A"	""	"likely pathogenic"	""
"0000791760"	"0"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5668G>T; p.G1890*"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000791761"	"0"	"70"	"12"	"88512314"	"88512314"	"dup"	"0"	"00000"	"CEP290_000354"	"g.88512314dup"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1666_1667insA; p.I556Nfs*20"	""	"Germline"	"?"	""	"0"	""	""	"g.88118537dup"	""	"likely pathogenic"	""
"0000791762"	"0"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4882C>T; p.G1628*"	""	"Germline"	"?"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000791763"	"0"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5668G>T; p.G1890*"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000791845"	"0"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5668G>T; p.G1890*"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000791846"	"0"	"70"	"12"	"88462362"	"88462362"	"subst"	"0"	"00000"	"CEP290_000102"	"g.88462362G>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.6072C>A; p.T2024*"	""	"Germline"	"?"	""	"0"	""	""	"g.88068585G>T"	""	"likely pathogenic"	""
"0000791847"	"0"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4723A>T; p.K1575*"	""	"Germline"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000791848"	"0"	"70"	"12"	"88512419"	"88512419"	"subst"	"0"	"00000"	"CEP290_000467"	"g.88512419C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1623+1G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.88118642C>T"	""	"likely pathogenic"	""
"0000791849"	"0"	"70"	"12"	"88472889"	"88472889"	"subst"	"2.63532E-5"	"00000"	"CEP290_000083"	"g.88472889G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5344C>T; p.R1782*"	""	"Germline"	"?"	""	"0"	""	""	"g.88079112G>A"	""	"likely pathogenic"	""
"0000791850"	"0"	"70"	"12"	"88471097"	"88471100"	"del"	"0"	"00000"	"CEP290_000090"	"g.88471097_88471100del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5611_5614del; p.G1871Vfs*2"	""	"Germline"	"?"	""	"0"	""	""	"g.88077320_88077323del"	""	"likely pathogenic"	""
"0000791851"	"0"	"70"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Brooks 2018:30055837}"	""	"deletion of exons 38 and 39 (352 bp)"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000791884"	"21"	"70"	"12"	"88453692"	"88453692"	"subst"	"0.000168996"	"00006"	"CEP290_000254"	"g.88453692G>A"	""	"{PMID:Hopp 2011:21493627}"	""	"R2210C"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000791947"	"0"	"90"	"12"	"88471064"	"88471064"	"ins"	"0"	"00000"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:Otto 2011:21068128}"	""	"c.5649e50insA"	""	"Germline"	""	""	"0"	""	""	"g.88077287dup"	""	"pathogenic"	""
"0000791948"	"0"	"90"	"12"	"88465563"	"88465563"	"del"	"0"	"00000"	"CEP290_000473"	"g.88465563delA"	""	"{PMID:Otto 2011:21068128}"	""	"c.5850delT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791949"	"3"	"90"	"12"	"88496691"	"88496691"	"subst"	"0"	"00000"	"CEP290_000507"	"g.88496691A>G"	""	"{PMID:Otto 2011:21068128}"	""	"c.2915T/C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791950"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.5668G/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791951"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.5668G/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791952"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.5668G/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791953"	"0"	"90"	"12"	"88519023"	"88519023"	"subst"	"0"	"00000"	"CEP290_000510"	"g.88519023C>T"	""	"{PMID:Otto 2011:21068128}"	""	"c.1189G/A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791954"	"0"	"90"	"12"	"88471064"	"88471064"	"ins"	"0"	"00000"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:Otto 2011:21068128}"	""	"c.5649e50insA"	""	"Germline"	""	""	"0"	""	""	"g.88077287dup"	""	"pathogenic"	""
"0000791955"	"0"	"90"	"12"	"88534777"	"88534777"	"subst"	"0"	"00000"	"CEP290_000512"	"g.88534777C>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.136G/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791956"	"0"	"90"	"12"	"88456549"	"88456549"	"del"	"0"	"00000"	"CEP290_000502"	"g.88456549delC"	""	"{PMID:Otto 2011:21068128}"	""	"c.6277delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791957"	"0"	"90"	"12"	"88474003"	"88474003"	"subst"	"1.63879E-5"	"00000"	"CEP290_000417"	"g.88474003C>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.5182G/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791958"	"0"	"90"	"12"	"88471612"	"88471615"	"del"	"0"	"00000"	"CEP290_000504"	"g.88471612_88471615delAGTT"	""	"{PMID:Otto 2011:21068128}"	""	"c.5445e8delAACT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791959"	"0"	"90"	"12"	"88472922"	"88472922"	"subst"	"0"	"00000"	"CEP290_000505"	"g.88472922C>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.5311G/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791960"	"0"	"90"	"12"	"88513962"	"88513962"	"del"	"0"	"00000"	"CEP290_000509"	"g.88513962delT"	""	"{PMID:Otto 2011:21068128}"	""	"c.1451delA"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792003"	"0"	"90"	"12"	"88532965"	"88532965"	"subst"	"0"	"00000"	"CEP290_000511"	"g.88532965T>G"	""	"{PMID:Otto 2011:21068128}"	""	"c.254A/C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792158"	"0"	"90"	"12"	"88476923"	"88476923"	"subst"	"0"	"00000"	"CEP290_000506"	"g.88476923G>A"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"c.4897C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792159"	"0"	"90"	"12"	"88452677"	"88452677"	"del"	"0"	"00000"	"CEP290_000501"	"g.88452677delG"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"c.6766delC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792172"	"0"	"90"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"00000"	"CEP290_000243"	"g.88530494G>A"	"2/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"367C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792189"	"0"	"10"	"12"	"88452656"	"88452656"	"subst"	"0.000629774"	"00000"	"CEP290_000439"	"g.88452656T>C"	"1/87 cases; 0/96 controls"	"{PMID:li 2011:21602930}"	""	"6787A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000792204"	"3"	"50"	"12"	"88504978"	"88504978"	"subst"	"0"	"00000"	"CEP290_000508"	"g.88504978C>A"	""	"{PMID:Chaki 2011:21422230}"	""	"CEP290:c.2367+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000792339"	"3"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000792397"	"3"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000793980"	"0"	"90"	"12"	"88477722"	"88477722"	"subst"	"0"	"00000"	"CEP290_000141"	"g.88477722C>A"	""	"{PMID:alazami-2012:22693042}"	""	"c.4714G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000793988"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:alazami-2012:22693042}"	""	"c.5668G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000793989"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:alazami-2012:22693042}"	""	"c.5668G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000794018"	"0"	"90"	"12"	"88443008"	"88443009"	"del"	"0"	"00000"	"CEP290_000299"	"g.88443008_88443009delCT"	""	"{PMID:Nishiguchi-2012:22848652}"	""	"c.7392_7393delAG"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000794019"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Nishiguchi-2012:22848652}"	""	"c.4393C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000794040"	"0"	"70"	"12"	"88513984"	"88513984"	"subst"	"0"	"03508"	"CEP290_000373"	"g.88513984G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000794041"	"0"	"70"	"12"	"88530539"	"88530539"	"subst"	"0"	"03508"	"CEP290_000018"	"g.88530539G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000794072"	"0"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"03508"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"VUS"	"ACMG"
"0000794073"	"0"	"70"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"03508"	"CEP290_000374"	"g.88462434A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794145"	"0"	"70"	"12"	"56629416"	"56629416"	"subst"	"1.62503E-5"	"00000"	"CEP290_000500"	"g.56629416G>A"	""	"{PMID:Wan 2018:30245926}"	""	"c.877G>A; p.Gly293Arg"	"Known high myopia gene; heterozygous variant"	"Unknown"	"?"	"rs756666376"	"0"	""	""	"g.56235632G>A"	""	"likely pathogenic"	""
"0000794205"	"0"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"03508"	"CEP290_000068"	"g.88478410_88478412del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88084633_88084635del"	""	"VUS"	"ACMG"
"0000794206"	"0"	"70"	"12"	"88524086"	"88524086"	"dup"	"0"	"03508"	"CEP290_000513"	"g.88524086dup"	""	""	""	"635dupA"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88130309dup"	""	"pathogenic"	"ACMG"
"0000795955"	"0"	"70"	"12"	"88486558"	"88486558"	"subst"	"0"	"00000"	"CEP290_000515"	"g.88486558C>A"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[3361G>T];[2817+2T>C]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795956"	"0"	"70"	"12"	"88448114"	"88448123"	"dup"	"0"	"00000"	"CEP290_000514"	"g.88448114_88448123dup"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[3361G>T];[2817+2T>C]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795958"	"0"	"70"	"12"	"88500450"	"88500450"	"subst"	"0"	"00000"	"CEP290_000517"	"g.88500450A>G"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[3265C>T];[4090G>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795959"	"0"	"70"	"12"	"88508234"	"88508234"	"subst"	"0"	"00000"	"CEP290_000518"	"g.88508234C>T"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[3265C>T];[4090G>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795962"	"0"	"70"	"12"	"88487591"	"88487591"	"subst"	"0"	"00000"	"CEP290_000516"	"g.88487591G>A"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[2954delT];[7028_7034+3dup]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795963"	"0"	"70"	"12"	"88502850"	"88502850"	"subst"	"0"	"00000"	"CEP290_000518"	"g.88502850G>A"	"0/384 controls"	"{PMID:Chen-2013:23661368}"	""	"c.[2954delT];[7028_7034+3dup]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795983"	"0"	"50"	"12"	"88474058"	"88474058"	"subst"	"0.000170807"	"00000"	"CEP290_000280"	"g.88474058C>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.5127G>T"	"unknown variant 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000795985"	"0"	"30"	"12"	"88474058"	"88474058"	"subst"	"0.000170807"	"00000"	"CEP290_000280"	"g.88474058C>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.5127G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000795987"	"0"	"30"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"00000"	"CEP290_000162"	"g.88444154C>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.7186G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000795998"	"0"	"30"	"12"	"88472987"	"88472987"	"subst"	"0"	"00000"	"CEP290_000458"	"g.88472987A>C"	""	"{PMID:Chen-2013:23661368}"	""	"c.5246T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000796194"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796195"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.5668G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796196"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796197"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796198"	"3"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.4723A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796219"	"0"	"90"	"12"	"88472889"	"88472889"	"subst"	"2.63532E-5"	"00000"	"CEP290_000083"	"g.88472889G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.5344C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796220"	"0"	"90"	"12"	"88512303"	"88512304"	"ins"	"0"	"00000"	"CEP290_000213"	"g.88512303_88512304insT"	""	"{PMID:Wang-2013:23847139}"	""	"c.1667_1668insA"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796221"	"0"	"90"	"12"	"88514869"	"88514873"	"del"	"0"	"00000"	"CEP290_000025"	"g.88514869_88514873del"	""	"{PMID:Wang-2013:23847139}"	""	"c.1260_1264del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796222"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796223"	"0"	"90"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.3811C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796224"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796225"	"0"	"90"	"12"	"88524164"	"88524167"	"del"	"0"	"00000"	"CEP290_000519"	"g.88524164_88524167del"	""	"{PMID:Wang-2013:23847139}"	""	"c.547_550del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796226"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796227"	"0"	"90"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.4882C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796228"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796229"	"0"	"90"	"12"	"88514913"	"88514914"	"del"	"7.33257E-5"	"00000"	"CEP290_000026"	"g.88514913_88514914del"	""	"{PMID:Wang-2013:23847139}"	""	"c.1219_1220del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796230"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wang-2013:23847139}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796231"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.4723A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796232"	"0"	"90"	"12"	"88508195"	"88508196"	"del"	"2.12068E-5"	"00000"	"CEP290_000445"	"g.88508195_88508196del"	""	"{PMID:Wang-2013:23847139}"	""	"c.2052+1_2052+2del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796669"	"0"	"90"	"12"	"88483198"	"88483198"	"dup"	"0"	"00000"	"CEP290_000521"	"g.88483198dup"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.3640dupG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796670"	"0"	"90"	"12"	"88453716"	"88453716"	"del"	"0"	"00000"	"CEP290_000106"	"g.88453716del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.6604delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796761"	"0"	"90"	"12"	"88500781"	"88500781"	"subst"	"0"	"00000"	"CEP290_000522"	"g.88500781C>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.2578G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796762"	"0"	"90"	"12"	"88483080"	"88483080"	"subst"	"1.21857E-5"	"00000"	"CEP290_000520"	"g.88483080C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.3758G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796763"	"0"	"70"	"12"	"88472979"	"88472979"	"subst"	"1.75091E-5"	"00000"	"CEP290_000441"	"g.88472979G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.5254C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796788"	"0"	"90"	"12"	"88462424"	"88462424"	"subst"	"0"	"00000"	"CEP290_000457"	"g.88462424T>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.6012-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796789"	"0"	"90"	"12"	"88449443"	"88449443"	"del"	"0"	"00000"	"CEP290_000108"	"g.88449443del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.6870delT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796864"	"0"	"70"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"00000"	"CEP290_000175"	"g.88454728A>G"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.6401T>C"	""	"Germline"	""	"rs117852025"	"0"	""	""	""	""	"likely pathogenic"	""
"0000796868"	"0"	"70"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"00000"	"CEP290_000224"	"g.88514835T>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.1298A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797094"	"0"	"90"	"12"	"88520176"	"88520176"	"subst"	"0"	"00000"	"CEP290_000525"	"g.88520176G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.982C>T, p.Gln328*"	"Heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88126399G>A"	""	"pathogenic"	"ACMG"
"0000797164"	"0"	"50"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Birtel 2018:30543658}"	""	"c.2991+1655A>G, Splice"	"Heterozygous"	"Germline"	""	"rs281865192"	"0"	""	""	"g.88101183T>C"	""	"VUS"	"ACMG"
"0000797173"	"3"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2018:30576320}"	""	"allele 1: c.2991+1655A>G/p.[C998*,=], allele 2: c.2991+1655A>G/p.[C998*, = ]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	"ACMG"
"0000797560"	"0"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00000"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.1984C>T, p.(Gln662*), c.5587-1G>C, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic"	"ACMG"
"0000797561"	"0"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.1984C>T, p.(Gln662*), c.5587-1G>C, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"pathogenic"	"ACMG"
"0000797562"	"0"	"70"	"12"	"88449442"	"88449442"	"subst"	"0"	"00000"	"CEP290_000523"	"g.88449442G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.180+1G>A, p.(?), c.6871C>T, p.(Gln2291*)"	""	"Germline"	"?"	""	"0"	""	""	"g.88055665G>A"	""	"likely pathogenic"	"ACMG"
"0000797563"	"0"	"70"	"12"	"88534732"	"88534732"	"subst"	"4.67093E-6"	"00000"	"CEP290_000526"	"g.88534732C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.180+1G>A, p.(?), c.6871C>T, p.(Gln2291*)"	""	"Germline"	"?"	""	"0"	""	""	"g.88140955C>T"	""	"likely pathogenic"	"ACMG"
"0000797968"	"0"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00000"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.1984C>T, p.(Gln662*)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic"	"ACMG"
"0000797969"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.5668G>T, p.(Gly1890*)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	"ACMG"
"0000797970"	"0"	"50"	"12"	"88524335"	"88524335"	"subst"	"0.000282433"	"00000"	"CEP290_000236"	"g.88524335C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.503G>A, p.(Arg168His), c.2691A>G, p.(Ile897Met)"	""	"Germline"	"?"	""	"0"	""	""	"g.88130558C>T"	""	"VUS"	"ACMG"
"0000797971"	"0"	"50"	"12"	"88500578"	"88500578"	"subst"	"8.37696E-6"	"00000"	"CEP290_000201"	"g.88500578T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.503G>A, p.(Arg168His), c.2691A>G, p.(Ile897Met)"	""	"Germline"	"?"	""	"0"	""	""	"g.88106801T>C"	""	"VUS"	"ACMG"
"0000797972"	"0"	"70"	"12"	"88500547"	"88500547"	"subst"	"1.24996E-5"	"00000"	"CEP290_000344"	"g.88500547G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"CEP290 c.2722C>T, p.(Arg908*)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.88106770G>A"	""	"likely pathogenic"	"ACMG"
"0000798166"	"0"	"50"	"12"	"88500578"	"88500578"	"subst"	"8.37696E-6"	"00000"	"CEP290_000201"	"g.88500578T>C"	""	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"m27: c.2691A>G; p.Ile897Met"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88106801T>C"	""	"VUS"	""
"0000798174"	"0"	"50"	"12"	"88484561"	"88484561"	"subst"	"9.87132E-5"	"00000"	"CEP290_000435"	"g.88484561G>T"	""	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"m30: c.3517C>A; p.Gln1173Lys"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88090784G>T"	""	"VUS"	""
"0000798175"	"10"	"50"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"00000"	"CEP290_000330"	"g.88480233C>G"	""	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"m31: c.4237G>C; p.Asp1413His"	""	"Germline"	"no"	""	"0"	""	""	"g.88086456C>G"	""	"VUS"	""
"0000798176"	"10"	"50"	"12"	"88487990"	"88487990"	"subst"	"0"	"00000"	"CEP290_000524"	"g.88487990A>C"	""	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"m37: c.3104-238T>G; p.?"	""	"Germline"	"no"	""	"0"	""	""	"g.88094213A>C"	""	"VUS"	""
"0000798490"	"3"	"90"	"12"	"88477665"	"88477665"	"subst"	"0"	"00000"	"CEP290_000072"	"g.88477665G>A"	""	"{PMID:Beryozkin-2014:24474277}"	""	"c.4771C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000805963"	"0"	"10"	"12"	"88471554"	"88471554"	"subst"	"0.00114452"	"02330"	"CEP290_000186"	"g.88471554T>C"	""	""	""	"CEP290(NM_025114.3):c.5506A>G (p.I1836V), CEP290(NM_025114.4):c.5506A>G (p.I1836V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000805964"	"0"	"50"	"12"	"88496749"	"88496749"	"subst"	"0"	"01943"	"CEP290_000527"	"g.88496749C>T"	""	""	""	"CEP290(NM_025114.3):c.2857G>A (p.V953I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805965"	"0"	"50"	"12"	"88505067"	"88505067"	"subst"	"0"	"01943"	"CEP290_000528"	"g.88505067A>G"	""	""	""	"CEP290(NM_025114.3):c.2279T>C (p.F760S, p.(Phe760Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805966"	"0"	"50"	"12"	"88512301"	"88512301"	"subst"	"0.000453585"	"01943"	"CEP290_000212"	"g.88512301C>T"	""	""	""	"CEP290(NM_025114.3):c.1670G>A (p.R557H), CEP290(NM_025114.4):c.1670G>A (p.R557H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805967"	"0"	"30"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"02326"	"CEP290_000224"	"g.88514835T>C"	""	""	""	"CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811079"	"3"	"70"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	"0/96 ethnically matched controls, 0/184 European-descended controls"	"{PMID:Leitch-2008:18327255}"	""	"E1903X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811716"	"0"	"50"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Manara 2019:31196119}"	""	"BBS14 c.829G>C, p.(Glu277Gln)"	"heterozygous"	"Germline"	"?"	"rs45502896"	"0"	""	""	"g.88129717C>G"	""	"VUS"	"ACMG"
"0000811858"	"0"	"70"	"1"	"88512314"	"88512314"	"dup"	"0"	"00000"	"CEP290_000354"	"g.88512314dup"	""	"{PMID:Gao 2019:31054281}"	""	"c.1666_1667insA, p.Ile556Asnfs20"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88118537dup"	""	"likely pathogenic"	""
"0000812316"	"0"	"70"	"12"	"88524986"	"88524986"	"subst"	"0"	"00000"	"CEP290_000001"	"g.88524986G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"USH2A IVS46 c.9258+1G>T p.(?), Ex.62 c.12093del p.(Tyr4031*), CEP290: Ex.7 c.451C>T p.(Arg151*)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88131209G>A"	""	"likely pathogenic"	""
"0000812335"	"0"	"70"	"12"	"88477009"	"88477009"	"subst"	"7.13827E-5"	"00000"	"CEP290_000531"	"g.88477009T>C"	""	"{PMID:Martin Merida 2019:30902645}"	""	"NR2E3 Ex.5 c.731del  p.(Leu244Argfs*7), Ex.5 c.731del  p.(Leu244Argfs*7), CEP290: IVS36 c.4813-2A>G p.(?) // CEP290: IVS36 c.4813-2A>G  p.(?)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083232T>C"	""	"likely pathogenic"	""
"0000812492"	"3"	"70"	"12"	"88443097"	"88443097"	"subst"	"0"	"00000"	"CEP290_000530"	"g.88443097A>C"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.7304T>G, p.(Val2435Gly)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88049320A>C"	""	"likely pathogenic"	""
"0000812583"	"0"	"90"	"12"	"88443074"	"88443078"	"dup"	"0"	"00000"	"CEP290_000529"	"g.88443074_88443078dup"	""	"{PMID:Wang 2019:31106028}"	""	"c.7328_7332dup, p.(Val2445Argfs*3)"	"different transcript: NM_025114.3(CEP290):c.7328_7332dup,  single heterozygous variant in a recessive gene"	"Germline"	"?"	""	"0"	""	""	"g.88049297_88049301dup"	""	"pathogenic"	""
"0000812584"	"0"	"90"	"12"	"88443074"	"88443078"	"dup"	"0"	"00000"	"CEP290_000529"	"g.88443074_88443078dup"	""	"{PMID:Wang 2019:31106028}"	""	"c.7328_7332dup, p.(Val2445Argfs*3)"	"different transcript: NM_025114.3(CEP290):c.7328_7332dup,  single heterozygous variant in a recessive gene"	"Germline"	"?"	""	"0"	""	""	"g.88049297_88049301dup"	""	"pathogenic"	""
"0000812662"	"0"	"70"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"00000"	"CEP290_000243"	"g.88530494G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.367G>A, p.(Gln123*)"	"error in annotation: c.367G>A instead of C>T, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88136717G>A"	""	"likely pathogenic"	""
"0000812663"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Wang 2019:31106028}"	""	"c.384_387del, p.(Asp128Glufs*34)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	""
"0000812724"	"0"	"70"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"00000"	"CEP290_000243"	"g.88530494G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.3802G>A, p.(Gln1268*)"	"error in annotation: c.367G>A instead of C>T, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88136717G>A"	""	"likely pathogenic"	""
"0000812725"	"0"	"90"	"12"	"88483036"	"88483036"	"subst"	"1.21885E-5"	"00000"	"CEP290_000532"	"g.88483036G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.367G>A, p.(Gln123*)"	"error in annotation: c.3802G>A instead of C>T, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089259G>A"	""	"pathogenic"	""
"0000813258"	"0"	"50"	"12"	"88456668"	"88456668"	"subst"	"0"	"00000"	"CEP290_000533"	"g.88456668A>G"	""	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.6271-113T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813272"	"0"	"50"	"12"	"88464911"	"88464911"	"subst"	"0"	"00000"	"CEP290_000534"	"g.88464911C>T"	""	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.6011+160G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813282"	"0"	"50"	"12"	"88496643"	"88496643"	"subst"	"0"	"00000"	"CEP290_000537"	"g.88496643T>G"	""	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.2963A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813625"	"1"	"90"	"12"	"88519021"	"88519021"	"subst"	"0"	"00000"	"CEP290_000539"	"g.88519021A>G"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.16973T>C, c.1189+2T>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.88125244A>G"	""	"pathogenic"	"ACMG"
"0000813674"	"0"	"90"	"12"	"88512314"	"88512314"	"dup"	"0"	"00000"	"CEP290_000354"	"g.88512314dup"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.23689_23690dupA, c.1666dupA, p.I556Nfs20"	""	"Unknown"	"?"	""	"0"	""	""	"g.88118537dup"	""	"pathogenic"	"ACMG"
"0000813680"	"1"	"90"	"12"	"88483036"	"88483036"	"subst"	"1.21885E-5"	"00000"	"CEP290_000532"	"g.88483036G>A"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.52958C>T, c.3802C>T, p.Q1268X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88089259G>A"	""	"pathogenic"	"ACMG"
"0000813694"	"1"	"90"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.64873_70436del, c.5587-?_5709+?del"	""	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000813701"	"1"	"90"	"12"	"88478631"	"88478631"	"subst"	"0"	"00000"	"CEP290_000536"	"g.88478631T>C"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.57363A>G, c.4438-2A>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.88084854T>C"	""	"pathogenic"	"ACMG"
"0000813702"	"1"	"70"	"12"	"88533325"	"88533325"	"subst"	"0"	"00000"	"CEP290_000541"	"g.88533325A>C"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.2669T>G, c.197T>G, p.V66G"	""	"Germline"	"yes"	""	"0"	""	""	"g.88139548A>C"	""	"likely pathogenic"	"ACMG"
"0000813704"	"1"	"90"	"12"	"88530539"	"88530539"	"subst"	"0"	"00000"	"CEP290_000018"	"g.88530539G>A"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.5455C>T, c.322C>T, p.R108X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88136762G>A"	""	"pathogenic"	"ACMG"
"0000813705"	"0"	"90"	"12"	"88478631"	"88478631"	"subst"	"0"	"00000"	"CEP290_000536"	"g.88478631T>C"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.57363A>G, c.4438-2A>G"	"single heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88084854T>C"	""	"pathogenic"	"ACMG"
"0000813732"	"2"	"90"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"00000"	"CEP290_000296"	"g.88465636C>G"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.70358G>C, c.5777G>C, p.R1926P"	""	"Germline"	"yes"	""	"0"	""	""	"g.88071859C>G"	""	"pathogenic"	"ACMG"
"0000813759"	"0"	"70"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"00000"	"CEP290_000162"	"g.88444154C>A"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.91840G>T, c.7186G>T, p.D2396Y"	""	"Unknown"	"?"	""	"0"	""	""	"g.88050377C>A"	""	"likely pathogenic"	"ACMG"
"0000813763"	"2"	"90"	"12"	"88443074"	"88443078"	"dup"	"0"	"00000"	"CEP290_000529"	"g.88443074_88443078dup"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.92925_92926insAGAAG, c.7332_7333insAGAAG, p.V2445Rfs3"	""	"Germline"	"yes"	""	"0"	""	""	"g.88049297_88049301dup"	""	"pathogenic"	"ACMG"
"0000813770"	"2"	"90"	"12"	"88505497"	"88505497"	"subst"	"0"	"00000"	"CEP290_000538"	"g.88505497G>A"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.30497C>T, c.2191C>T, p.Q731X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88111720G>A"	""	"pathogenic"	"ACMG"
"0000813773"	"2"	"90"	"12"	"88512314"	"88512314"	"dup"	"0"	"00000"	"CEP290_000354"	"g.88512314dup"	""	"{PMID:Xu 2020:31630094}"	""	"1666dupA: g.23689_23690dupA, p.I556Nfs20"	""	"Germline"	"yes"	""	"0"	""	""	"g.88118537dup"	""	"pathogenic"	"ACMG"
"0000813774"	"2"	"90"	"12"	"88476808"	"88476811"	"del"	"0"	"00000"	"CEP290_000535"	"g.88476808_88476811del"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.59183_59186delTACA, c.5009-5012delTACA, p.L1670Cfs10"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083031_88083034del"	""	"pathogenic"	"ACMG"
"0000813775"	"2"	"90"	"12"	"88524157"	"88524157"	"del"	"0"	"00000"	"CEP290_000540"	"g.88524157del"	""	"{PMID:Xu 2020:31630094}"	""	"CEP290 NM_025114: g.11839delA, c.559delA, p.I187X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88130380del"	""	"pathogenic"	"ACMG"
"0000813879"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Jiman 2020:31836858}"	""	"CEP290;NM_025114.3;c.[5668G>T];[5668G>T]p.[(Gly1890*)];[(Gly1890*)]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000813880"	"0"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Jiman 2020:31836858}"	""	"CEP290;NM_025114.3;c.[4723A>T];[6277del];p.[(Lys1575*)];[(Val2093Serfs*4)]"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000813881"	"0"	"70"	"12"	"88456549"	"88456549"	"del"	"5.26848E-5"	"00000"	"CEP290_000105"	"g.88456549del"	""	"{PMID:Jiman 2020:31836858}"	""	"CEP290;NM_025114.3;c.[4723A>T];[6277del];p.[(Lys1575*)];[(Val2093Serfs*4)]"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062772del"	""	"likely pathogenic"	""
"0000813883"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Jiman 2020:31836858}"	""	"CEP290;NM_025114.3;c.[5668G>T];[5668G>T];p.[(Gly1890*)];[(Gly1890*)];"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000813993"	"0"	"50"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Redin-2012:22773737}"	""	"CEP290/BBS14:p.[K1870Nfs*4];="	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000815349"	"3"	"90"	"12"	"88524330"	"88524330"	"subst"	"1.37501E-5"	"00000"	"CEP290_000430"	"g.88524330T>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CEP290:NM_025114 c.A508T, p.K170X"	"homozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.88130553T>A"	""	"pathogenic"	"ACMG"
"0000815462"	"0"	"50"	"12"	"88505553"	"88505553"	"subst"	"0"	"00000"	"CEP290_000543"	"g.88505553T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CEP290:NM_025114 c.A2135G, p.N712S"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.88111776T>C"	""	"VUS"	"ACMG"
"0000815473"	"0"	"50"	"12"	"88483233"	"88483233"	"subst"	"4.67304E-5"	"00000"	"CEP290_000542"	"g.88483233T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CEP290:NM_025114 c.A3605G, p.K1202R"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.88089456T>C"	""	"VUS"	"ACMG"
"0000815594"	"0"	"50"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"00000"	"CEP290_000276"	"g.88533296C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CEP290:NM_025114 c.G226A, p.A76T"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.88139519C>T"	""	"VUS"	"ACMG"
"0000815628"	"0"	"50"	"12"	"88512301"	"88512301"	"subst"	"0.000453585"	"00000"	"CEP290_000212"	"g.88512301C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"CEP290:NM_025114 c.G1670A, p.R557H"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.88118524C>T"	""	"VUS"	"ACMG"
"0000815949"	"0"	"50"	"12"	"88462295"	"88462295"	"subst"	"5.72508E-6"	"00000"	"CEP290_000544"	"g.88462295T>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CEP290 c.6135+4A>G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88068518T>C"	""	"VUS"	""
"0000815958"	"0"	"50"	"12"	"88534755"	"88534755"	"subst"	"0"	"00000"	"CEP290_000548"	"g.88534755C>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CEP290 c.158G>C, p.Arg53Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88140978C>G"	""	"VUS"	""
"0000815966"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	"Cryptic exon, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000816179"	"3"	"90"	"12"	"88513902"	"88513903"	"del"	"0"	"00000"	"CEP290_000547"	"g.88513902_88513903del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CEP290 c.1514_1515del, p.Glu505AlafsTer5"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120125_88120126del"	""	"pathogenic"	""
"0000816255"	"0"	"50"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"CEP290 c.3175dup, p.Ile1059AsnfsTer11"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.88093911dup"	""	"VUS"	""
"0000816303"	"0"	"90"	"12"	"88465567"	"88465567"	"del"	"0"	"00000"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.5850del, p.Phe1950LeufsTer15"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071790del"	""	"pathogenic"	""
"0000816310"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1219_1220del, p.Met407GlufsTer14"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	""
"0000816317"	"0"	"90"	"12"	"88449451"	"88449451"	"dup"	"0"	"00000"	"CEP290_000168"	"g.88449451dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.6869dup, p.Asn2290LysfsTer6"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88055674dup"	""	"pathogenic"	""
"0000816484"	"0"	"90"	"12"	"88513902"	"88513903"	"del"	"0"	"00000"	"CEP290_000547"	"g.88513902_88513903del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1514_1515del, p.Glu505AlafsTer5"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120125_88120126del"	""	"pathogenic"	""
"0000817357"	"3"	"70"	"12"	"88449374"	"88449374"	"subst"	"0"	"00000"	"CEP290_000455"	"g.88449374G>T"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.6939C>A, p.Y2313*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88055597G>T"	""	"likely pathogenic"	""
"0000817358"	"3"	"70"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.1219_1220delAT, p.M407Efs"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"likely pathogenic"	""
"0000817359"	"3"	"70"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.1219_1220delAT, p.M407Efs"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"likely pathogenic"	""
"0000817360"	"3"	"70"	"12"	"88512259"	"88512259"	"subst"	"1.25244E-5"	"00000"	"CEP290_000377"	"g.88512259C>T"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.1711+1G>A, Splice donor"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118482C>T"	""	"likely pathogenic"	""
"0000817361"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817362"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817363"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817364"	"0"	"50"	"12"	"88443008"	"88443009"	"del"	"0"	"00000"	"CEP290_000299"	"g.88443008_88443009del"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.7394_7395delAG, p.E2465VFS*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88049231_88049232del"	""	"VUS"	""
"0000817365"	"1"	"70"	"12"	"88534811"	"88534811"	"subst"	"0"	"00000"	"CEP290_000469"	"g.88534811C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.103-1G>T, Splice site"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88141034C>A"	""	"likely pathogenic"	""
"0000817366"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817367"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817368"	"1"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817369"	"3"	"70"	"12"	"88471064"	"88471064"	"del"	"0"	"00000"	"CEP290_000480"	"g.88471064del"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5649delA, p.Lys1883AsnfsTer"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077287del"	""	"likely pathogenic"	""
"0000817370"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817372"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5668G>T, p.G1890*"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000817373"	"2"	"70"	"12"	"88471615"	"88471618"	"del"	"0"	"00000"	"CEP290_000545"	"g.88471615_88471618del"	""	"{PMID:Devi 2020:32139166}"	""	"CEP290 c.5445_5448delAACTT, p.T1816Ifs*"	"error in annotation, c.5445_5448delAACCTT causing p.T1816Ifs* should be c.5445_5448del or c.5445_5448delAACCT; compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077838_88077841del"	""	"likely pathogenic"	""
"0000817517"	"3"	"70"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Knopp 2015:26003401}"	""	"MKS4:p.Ala1832Profs*19"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817519"	"3"	"70"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Knopp 2015:26003401}"	""	"MKS4:p.Asn1049Lysfs*16"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817520"	"3"	"70"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Knopp 2015:26003401}"	""	"MKS4:p.Asn1049Lysfs*16"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817521"	"3"	"70"	"12"	"88476803"	"88476803"	"subst"	"0"	"00000"	"CEP290_000546"	"g.88476803C>A"	""	"{PMID:Knopp 2015:26003401}"	""	"MKS4:c.5012+5G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817594"	"0"	"90"	"12"	"88508274"	"88508274"	"subst"	"0"	"00000"	"CEP290_000152"	"g.88508274T>A"	""	"{PMID:Watson 2016:26729329}"	""	"c.1975A>T (p.Lys659*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000817595"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Watson 2016:26729329}"	""	"c.5668G>T (p.Gly1890*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818251"	"0"	"90"	"12"	"88471094"	"88471097"	"del"	"4.65211E-6"	"00000"	"CEP290_000090"	"g.88471094_88471097del"	""	"{PMID:Summers 2017:28497568}"	""	"c.5611_5614del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818252"	"0"	"90"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.4882C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818273"	"0"	"90"	"12"	"88462362"	"88462362"	"subst"	"0"	"00000"	"CEP290_000102"	"g.88462362G>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.6072C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818274"	"0"	"90"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.4882C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818287"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.5668G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818288"	"0"	"90"	"12"	"88471489"	"88472877"	"del"	"0"	"00000"	"CEP290_000550"	"g.88471489_88472877del"	""	"{PMID:Summers 2017:28497568}"	""	"c.5356_5571del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818296"	"0"	"90"	"12"	"88512419"	"88512419"	"subst"	"0"	"00000"	"CEP290_000467"	"g.88512419C>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.1623+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818297"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.5668G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818309"	"0"	"90"	"12"	"88474003"	"88474003"	"subst"	"1.63879E-5"	"00000"	"CEP290_000417"	"g.88474003C>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.5182G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818310"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.5668G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818362"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.4723A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818363"	"0"	"90"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.4966G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818403"	"21"	"90"	"12"	"88482934"	"88482934"	"subst"	"0"	"00000"	"CEP290_000372"	"g.88482934G>A"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.3904C>T:p.(Gln1302*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88089157G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818404"	"11"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.1666del:p.(Ile556Phefs*17)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic (recessive)"	"ACMG"
"0000818405"	"0"	"90"	"12"	"88513984"	"88513984"	"subst"	"0"	"00000"	"CEP290_000373"	"g.88513984G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.1429C>T:p.(Arg477*)"	"compound heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.88120207G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818406"	"21"	"90"	"12"	"88530539"	"88530539"	"subst"	"0"	"00000"	"CEP290_000018"	"g.88530539G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.322C>T:p.(Arg108*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88136762G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818407"	"21"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Surl 2020:32165824}"	""	"c.1666del:p.(Ile556Phefs*17)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic (recessive)"	"ACMG"
"0000818408"	"11"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.6012-12T>A:p.(Arg2004Serfs*7)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818409"	"3"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.6012-12T>A: p.(Arg2004Serfs*7)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818410"	"11"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"00000"	"CEP290_000375"	"g.88535085C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.-1G>A:p.?"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	"ACMG"
"0000818411"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.6012-12T>A:p.(Arg2004Serfs*7)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818412"	"11"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Surl 2020:32165824}"	""	"c.4661_4663del:p.(Gu1554del)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818413"	"11"	"90"	"12"	"88456556"	"88456556"	"subst"	"0"	"00000"	"CEP290_000371"	"g.88456556C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.6271-1G>A:p.?"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88062779C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818414"	"21"	"90"	"12"	"88482991"	"88482991"	"subst"	"0"	"00000"	"CEP290_000376"	"g.88482991G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.3847C>T:p.(Gln1283*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88089214G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818470"	"21"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Surl 2020:32165824}"	""	"c.4661_4663del:p.(Gu1554del)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818471"	"21"	"90"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.6012-12T>A:p.(Arg2004Serfs*7)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88068657A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818472"	"21"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"00000"	"CEP290_000375"	"g.88535085C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.-1G>A:p.?"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	"ACMG"
"0000818473"	"21"	"70"	"12"	"88482934"	"88482934"	"subst"	"0"	"00000"	"CEP290_000372"	"g.88482934G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.3904C>T:p.(Gln1302*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88089157G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818474"	"11"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Surl 2020:32165824}"	""	"c.4661_4663del:p.(Glu1554del)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818475"	"11"	"50"	"12"	"88535085"	"88535085"	"subst"	"2.4739E-5"	"00000"	"CEP290_000375"	"g.88535085C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.-1G>A:p.?"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88141308C>T"	""	"VUS"	"ACMG"
"0000819079"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Dineiro 2020:32483926}"	""	"CEP290 c.384_387delTAGA, p.(Asp128Glufs*34)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	"ACMG"
"0000819095"	"0"	"90"	"12"	"88443057"	"88443060"	"dup"	"0"	"00000"	"CEP290_000549"	"g.88443057_88443060dup"	""	"{PMID:Dineiro 2020:32483926}"	""	"CEP290 c.7341_7344dupACTT, p.(Ser2449Thrfs*8)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.88049280_88049283dup"	""	"pathogenic"	"ACMG"
"0000819446"	"1"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.5587-1G>C/p.?, variant 2: c.3310-1_3310delinsAA/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000819447"	"1"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.5587-1G>C/p.?, variant 2: c.3310-1_3310delinsAA/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000819451"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.1A>G/p.M1?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819484"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.3811C>T/p.R1271*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819540"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.6964A>T/p.K2322*"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819541"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.6964A>T/p.K2322*"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819561"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5587-1G>C/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819601"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.2991+1655A>G/p.?"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819622"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5866G>T/p.E1956*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819629"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.7341dup/p.L2448Tfs*8"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000819742"	"1"	"70"	"12"	"88534982"	"88534982"	"subst"	"0"	"00000"	"CEP290_000558"	"g.88534982C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*], variant 2 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*]"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88141205C>A"	""	"likely pathogenic"	""
"0000819743"	"1"	"70"	"12"	"88534982"	"88534982"	"subst"	"0"	"00000"	"CEP290_000558"	"g.88534982C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*], variant 2 :[c.102+1G>T/p.?; c.5803G>T/p.E1935*]"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88141205C>A"	""	"likely pathogenic"	""
"0000819778"	"1"	"70"	"12"	"88512326"	"88512326"	"subst"	"1.42337E-5"	"00000"	"CEP290_000033"	"g.88512326G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.1645C>T/p.R549*, variant 2: c.2991+1655A>G/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118549G>A"	""	"likely pathogenic"	""
"0000820185"	"1"	"70"	"12"	"88535083"	"88535083"	"subst"	"4.11353E-6"	"00000"	"CEP290_000003"	"g.88535083A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2T>A/p.M1?, variant 2: c.3461dup/p.L1155Tfs*6"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88141306A>T"	""	"likely pathogenic"	""
"0000820349"	"1"	"70"	"12"	"88482808"	"88482808"	"subst"	"0"	"00000"	"CEP290_000555"	"g.88482808C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.4029+1G>A/p.?, variant 2: c.7048C>T/p.Q2350*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089031C>T"	""	"likely pathogenic"	""
"0000820350"	"1"	"70"	"12"	"88532930"	"88532930"	"subst"	"0"	"00000"	"CEP290_000142"	"g.88532930C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.289G>T/p.E97*, variant 2: c.5237G>A/p.R1746Q"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88139153C>A"	""	"likely pathogenic"	""
"0000820417"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5668G>T/p.G1890*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000820455"	"1"	"70"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.5493del/p.A1832Pfs*19, variant 2: c.5587-1G>C/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077794del"	""	"likely pathogenic"	""
"0000820511"	"1"	"70"	"12"	"88500591"	"88500591"	"dup"	"0"	"00000"	"CEP290_000557"	"g.88500591dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2682dup/p.S895Ifs*17, variant 2: c.6646-11T>G/p.?"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88106814dup"	""	"likely pathogenic"	""
"0000820557"	"1"	"70"	"12"	"88534732"	"88534732"	"subst"	"4.67093E-6"	"00000"	"CEP290_000526"	"g.88534732C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.180+1G>A/p.?, variant 2: c.43C>G/p.P15A"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88140955C>T"	""	"likely pathogenic"	""
"0000820650"	"1"	"70"	"12"	"88486609"	"88486610"	"delins"	"0"	"00000"	"CEP290_000125"	"g.88486609_88486610delinsTT"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.5587-1G>C/p.?, variant 2: c.3310-1_3310delinsAA/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88092832_88092833delinsTT"	""	"likely pathogenic"	""
"0000820651"	"1"	"70"	"12"	"88486609"	"88486610"	"delins"	"0"	"00000"	"CEP290_000125"	"g.88486609_88486610delinsTT"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.5587-1G>C/p.?, variant 2: c.3310-1_3310delinsAA/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88092832_88092833delinsTT"	""	"likely pathogenic"	""
"0000820653"	"1"	"70"	"12"	"88535084"	"88535084"	"subst"	"0"	"00000"	"CEP290_000010"	"g.88535084T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.1A>G/p.M1?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88141307T>C"	""	"likely pathogenic"	""
"0000820659"	"1"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.3811C>T/p.R1271*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089250G>A"	""	"likely pathogenic"	""
"0000820666"	"1"	"70"	"12"	"88448187"	"88448187"	"subst"	"0"	"00000"	"CEP290_000551"	"g.88448187T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.6964A>T/p.K2322*"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88054410T>A"	""	"likely pathogenic"	""
"0000820667"	"1"	"70"	"12"	"88448187"	"88448187"	"subst"	"0"	"00000"	"CEP290_000551"	"g.88448187T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.6964A>T/p.K2322*"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88054410T>A"	""	"likely pathogenic"	""
"0000820672"	"1"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5587-1G>C/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000820683"	"1"	"70"	"12"	"88465216"	"88465216"	"subst"	"0"	"00000"	"CEP290_000101"	"g.88465216C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5866G>T/p.E1956*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071439C>A"	""	"likely pathogenic"	""
"0000820684"	"1"	"70"	"12"	"88443066"	"88443066"	"dup"	"0"	"00000"	"CEP290_000111"	"g.88443066dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.7341dup/p.L2448Tfs*8"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88049289dup"	""	"likely pathogenic"	""
"0000820718"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.1645C>T/p.R549*, variant 2: c.2991+1655A>G/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000820836"	"1"	"70"	"12"	"88486460"	"88486460"	"dup"	"0"	"00000"	"CEP290_000556"	"g.88486460dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2T>A/p.M1?, variant 2: c.3461dup/p.L1155Tfs*6"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88092683dup"	""	"likely pathogenic"	""
"0000820875"	"1"	"70"	"12"	"88447510"	"88447510"	"subst"	"0"	"00000"	"CEP290_000253"	"g.88447510G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.4029+1G>A/p.?, variant 2: c.7048C>T/p.Q2350*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88053733G>A"	""	"likely pathogenic"	""
"0000820876"	"1"	"70"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"00000"	"CEP290_000189"	"g.88472996C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.289G>T/p.E97*, variant 2: c.5237G>A/p.R1746Q"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88079219C>T"	""	"likely pathogenic"	""
"0000820907"	"1"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5668G>T/p.G1890*"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000820924"	"1"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.5493del/p.A1832Pfs*19, variant 2: c.5587-1G>C/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000820949"	"1"	"70"	"12"	"88452808"	"88452808"	"subst"	"4.22226E-6"	"00000"	"CEP290_000552"	"g.88452808A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.2682dup/p.S895Ifs*17, variant 2: c.6646-11T>G/p.?"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88059031A>C"	""	"likely pathogenic"	""
"0000820975"	"1"	"70"	"12"	"88535042"	"88535042"	"subst"	"4.10159E-6"	"00000"	"CEP290_000559"	"g.88535042G>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CEP290, variant 1: c.180+1G>A/p.?, variant 2: c.43C>G/p.P15A"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88141265G>C"	""	"likely pathogenic"	""
"0000821000"	"0"	"50"	"12"	"88452656"	"88452656"	"subst"	"0.000629774"	"00000"	"CEP290_000439"	"g.88452656T>C"	""	"{PMID:Ruberto 2020:32507954}"	""	"CEP290 gene:c.[6787A?>?G]; [?=], p.[Ser2263Gly]; [?=]"	""	"Unknown"	"?"	""	"0"	""	""	"g.88058879T>C"	""	"VUS"	""
"0000821004"	"21"	"50"	"12"	"88465153"	"88465153"	"subst"	"0"	"00000"	"CEP290_000553"	"g.88465153T>C"	""	"{PMID:Ruberto 2020:32507954}"	""	"CEP290 gene:c.[5929A?>?G]; [?=], p.[Ile1977Val]; [?=]"	""	"Germline"	"?"	""	"0"	""	""	"g.88071376T>C"	""	"VUS"	""
"0000821196"	"3"	"70"	"12"	"88535064"	"88535064"	"subst"	"0"	"00000"	"CEP290_000005"	"g.88535064C>A"	""	"{PMID:Turro 2020:32581362}"	""	"CEP290 c.21G>T, p.Trp7Cys"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88141287C>A"	""	"likely pathogenic"	""
"0000821197"	"0"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Turro 2020:32581362}"	""	"CEP290 c.5493delA, p.Ala1832ProfsTer19"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88077794del"	""	"pathogenic"	""
"0000822085"	"0"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Booij-2011:20801516}"	""	"c. 4723A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822086"	"0"	"70"	"12"	"88476859"	"88476859"	"del"	"0"	"00000"	"CEP290_000554"	"g.88476859del"	""	"{PMID:Booij-2011:20801516}"	""	"c.4961del AA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822087"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Booij-2011:20801516}"	""	"c.2991+1655A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822234"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Maggi_2021:33546218}"	""	"c.2991+1655A>G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822235"	"1"	"70"	"12"	"88453716"	"88453716"	"del"	"0"	"00000"	"CEP290_000106"	"g.88453716del"	""	"{PMID:Maggi_2021:33546218}"	""	"c.6604del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000823233"	"0"	"50"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Hull 2020:32856788}"	""	"CEP290 nucleotide 1, protein 1:c.384_387delTAGA, p.Asp128Glufs*34 nucleotide 2, protein 2:c.2991+1655A>G, p.?"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"VUS"	""
"0000823234"	"0"	"50"	"12"	"88465614"	"88465614"	"del"	"0"	"00000"	"CEP290_000561"	"g.88465614del"	""	"{PMID:Hull 2020:32856788}"	""	"CEP290 nucleotide 1, protein 1:c.5803delG, p.Glu1935Lysfs*5 nucleotide 2, protein 2:c.6798G>A, p.Trp2266*"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.88071837del"	""	"VUS"	""
"0000823277"	"0"	"50"	"12"	"88530474"	"88530477"	"del"	"5.68935E-5"	"00000"	"CEP290_000019"	"g.88530474_88530477del"	""	"{PMID:Hull 2020:32856788}"	""	"CEP290 nucleotide 1, protein 1:c.384_387delTAGA, p.Asp128Glufs*34 nucleotide 2, protein 2:c.2991+1655A>G, p.?"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.88136700_88136703del"	""	"VUS"	""
"0000823278"	"0"	"50"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	""	"{PMID:Hull 2020:32856788}"	""	"CEP290 nucleotide 1, protein 1:c.5803delG, p.Glu1935Lysfs*5 nucleotide 2, protein 2:c.6798G>A, p.Trp2266*"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"VUS"	""
"0000823312"	"0"	"90"	"12"	"88524330"	"88524330"	"subst"	"1.37501E-5"	"00000"	"CEP290_000430"	"g.88524330T>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.508A>T; p.Lys170Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88130553T>A"	""	"pathogenic"	"ACMG"
"0000823313"	"0"	"50"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6271-8T>G; p.?"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062786A>C"	""	"VUS"	"ACMG"
"0000823314"	"0"	"50"	"12"	"88478363"	"88478363"	"subst"	"0"	"00000"	"CEP290_000563"	"g.88478363C>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.4704G>C; p.GIu1568Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88084586C>G"	""	"VUS"	"ACMG"
"0000823315"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.384  387deITAGA;  p.Asp128GIufsTer34"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	"ACMG"
"0000823316"	"0"	"50"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6271-8T>G; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062786A>C"	""	"VUS"	"ACMG"
"0000823317"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.4723A>T; p.Lys1575Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	"ACMG"
"0000823318"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.4723A>T; p.Lys1575Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	"ACMG"
"0000823319"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.4723A>T; p.Lys1575Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	"ACMG"
"0000823320"	"0"	"50"	"12"	"88462434"	"88462434"	"subst"	"2.24893E-5"	"00000"	"CEP290_000374"	"g.88462434A>T"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6012-12T>A; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88068657A>T"	""	"VUS"	"ACMG"
"0000823321"	"0"	"90"	"12"	"88508196"	"88508197"	"del"	"0"	"00000"	"CEP290_000445"	"g.88508196_88508197del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2052+1_2052+2deIGT; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88114419_88114420del"	""	"pathogenic"	"ACMG"
"0000823322"	"0"	"50"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6271-8T>G;  p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062786A>C"	""	"VUS"	"ACMG"
"0000823323"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823324"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823325"	"0"	"50"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"00000"	"CEP290_000296"	"g.88465636C>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.S777G>C; p.Arg1926Pro"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071859C>G"	""	"VUS"	"ACMG"
"0000823326"	"0"	"90"	"12"	"88522784"	"88522784"	"subst"	"0"	"00000"	"CEP290_000568"	"g.88522784G>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.881C>G; p.Ser294Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88129007G>C"	""	"pathogenic"	"ACMG"
"0000823327"	"0"	"50"	"12"	"88471583"	"88471583"	"subst"	"0"	"00000"	"CEP290_000562"	"g.88471583A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.5477T>C; p.Leu1826Pro"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077806A>G"	""	"VUS"	"ACMG"
"0000823328"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823329"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823330"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823331"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823332"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823333"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823334"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823335"	"0"	"50"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6271-8T>G; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062786A>C"	""	"VUS"	"ACMG"
"0000823336"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823430"	"0"	"90"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.4962  4963delAA; p.GIu1656AsnfsTer3"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083081_88083082del"	""	"pathogenic"	"ACMG"
"0000823458"	"0"	"50"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6271-8T>G; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062786A>C"	""	"VUS"	"ACMG"
"0000823459"	"0"	"50"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"00000"	"CEP290_000136"	"g.88456563A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.6271-8T>G; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062786A>C"	""	"VUS"	"ACMG"
"0000823460"	"0"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.4723A>T; p.Lys1575Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	"ACMG"
"0000823461"	"0"	"90"	"12"	"88508196"	"88508197"	"del"	"0"	"00000"	"CEP290_000445"	"g.88508196_88508197del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2052+1_2052+2deIGT; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88114419_88114420del"	""	"pathogenic"	"ACMG"
"0000823465"	"0"	"90"	"12"	"88530510"	"88530511"	"ins"	"0"	"00000"	"CEP290_000569"	"g.88530510_88530511insTTGCCAA"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3S3_354insGCAATTG; p.Cys118TrpfsTer6"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88136733_88136734insTTGCCAA"	""	"pathogenic"	"ACMG"
"0000823466"	"0"	"50"	"12"	"88502880"	"88502880"	"subst"	"0"	"00000"	"CEP290_000271"	"g.88502880G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2446C>T; p.Arg816Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88109103G>A"	""	"VUS"	"ACMG"
"0000823467"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823468"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+16SSA>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823469"	"0"	"90"	"12"	"88534747"	"88534750"	"del"	"0"	"00000"	"CEP290_000012"	"g.88534747_88534750del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.164_167deICTCA; p.ThrS5SerfsTer3"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88140970_88140973del"	""	"pathogenic"	"ACMG"
"0000823470"	"0"	"90"	"12"	"88534747"	"88534750"	"del"	"0"	"00000"	"CEP290_000012"	"g.88534747_88534750del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.164  167deICTCA; p.Thr55SerfsTer3"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88140970_88140973del"	""	"pathogenic"	"ACMG"
"0000823471"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.384_387deITAGA; p.Asp128GIufsTer34"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	"ACMG"
"0000823472"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823473"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1666deIA; p.IIe556PhefsTer17"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	"ACMG"
"0000823474"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823475"	"0"	"90"	"12"	"88513964"	"88513964"	"del"	"0"	"00000"	"CEP290_000143"	"g.88513964del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1451deIA; p.Lys484ArgfsTer8"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120187del"	""	"pathogenic"	"ACMG"
"0000823476"	"0"	"70"	"12"	"88512418"	"88512418"	"subst"	"0"	"00000"	"CEP290_000566"	"g.88512418G>T"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1623+2C>A; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118641G>T"	""	"likely pathogenic"	"ACMG"
"0000823477"	"0"	"90"	"12"	"88500574"	"88500574"	"subst"	"0"	"00000"	"CEP290_000049"	"g.88500574G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2695C>T; p.GIn899Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88106797G>A"	""	"pathogenic"	"ACMG"
"0000823478"	"0"	"90"	"12"	"88513890"	"88513890"	"subst"	"0"	"00000"	"CEP290_000567"	"g.88513890C>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1522+1G>C; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120113C>G"	""	"pathogenic"	"ACMG"
"0000823479"	"0"	"90"	"12"	"88513964"	"88513964"	"del"	"0"	"00000"	"CEP290_000143"	"g.88513964del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1451deIA; p.Lys484ArgfsTer8"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120187del"	""	"pathogenic"	"ACMG"
"0000823480"	"0"	"90"	"12"	"88514886"	"88514886"	"subst"	"0"	"00000"	"CEP290_000414"	"g.88514886A>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1247T>G; p.Leu416Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121109A>C"	""	"pathogenic"	"ACMG"
"0000823481"	"0"	"70"	"12"	"88500534"	"88500538"	"del"	"0"	"00000"	"CEP290_000565"	"g.88500534_88500538del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2737_2741deIGAAAA; p.GIu913Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88106757_88106761del"	""	"likely pathogenic"	"ACMG"
"0000823482"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823483"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1219_1220deIAT; p.Met407GIufsTer14"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	"ACMG"
"0000823484"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1219_1220deIAT; p.Met407GIufsTer14"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	"ACMG"
"0000823485"	"0"	"90"	"12"	"88500547"	"88500547"	"subst"	"1.24996E-5"	"00000"	"CEP290_000344"	"g.88500547G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2722C>T; p.Arg908Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88106770G>A"	""	"pathogenic"	"ACMG"
"0000823486"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823487"	"0"	"90"	"12"	"88513964"	"88513964"	"del"	"0"	"00000"	"CEP290_000143"	"g.88513964del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1451deIA; p.Lys484ArgfsTer8"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120187del"	""	"pathogenic"	"ACMG"
"0000823526"	"0"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.384_387deITAGA; p.Asp128GIufsTer34"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic"	"ACMG"
"0000823528"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823529"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823531"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823534"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823536"	"0"	"50"	"12"	"88535071"	"88535071"	"subst"	"0"	"00000"	"CEP290_000570"	"g.88535071A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.14T>C; p.IIe5Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88141294A>G"	""	"VUS"	"ACMG"
"0000823539"	"0"	"50"	"12"	"88482927"	"88482927"	"subst"	"0"	"00000"	"CEP290_000564"	"g.88482927A>G"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.3911T>C; p.Met1304Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089150A>G"	""	"VUS"	"ACMG"
"0000823541"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2991+1655A>G; p.Cys998Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	"ACMG"
"0000823554"	"0"	"90"	"12"	"88500547"	"88500547"	"subst"	"1.24996E-5"	"00000"	"CEP290_000344"	"g.88500547G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2722C>T; p.Arg908Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88106770G>A"	""	"pathogenic"	"ACMG"
"0000823555"	"0"	"90"	"12"	"88500547"	"88500547"	"subst"	"1.24996E-5"	"00000"	"CEP290_000344"	"g.88500547G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.2722C>T; p.Arg908Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88106770G>A"	""	"pathogenic"	"ACMG"
"0000823556"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1666deIA; p.IIe5S6PhefsTer17"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	"ACMG"
"0000823557"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Sallum 2020:32865313}"	""	"CEP290 c.1666deIA; p.IIe556PhefsTer17"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	"ACMG"
"0000824891"	"3"	"70"	"12"	"88478410"	"88478410"	"subst"	"0"	"00000"	"CEP290_000571"	"g.88478410C>G"	""	"{PMID:Beigi 2021:33741323}"	""	"CEP290 c.4657G > C, p.(Glu1553Gln)"	"homozygous; probably two mutations contribute to more severe phenotype"	"Germline"	"yes"	""	"0"	""	""	"g.88084633C>G"	""	"likely pathogenic"	""
"0000826072"	"0"	"70"	"12"	"88443069"	"88443073"	"dup"	"3.70218E-5"	"00000"	"CEP290_000529"	"g.88443069_88443073dup"	""	"{PMID:Liu-2020:33090715}"	""	"c.7332_7333insAGAAG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826073"	"0"	"70"	"12"	"88530494"	"88530494"	"subst"	"1.62579E-5"	"00000"	"CEP290_000243"	"g.88530494G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.367C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826234"	"0"	"70"	"12"	"88462424"	"88462424"	"subst"	"0"	"00000"	"CEP290_000457"	"g.88462424T>C"	""	"{PMID:Liu-2020:33090715}"	""	"c.6012-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826235"	"0"	"70"	"12"	"88508950"	"88508950"	"subst"	"0"	"00000"	"CEP290_000573"	"g.88508950G>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.1834C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827007"	"0"	"90"	"12"	"88523549"	"88523549"	"dup"	"0"	"00000"	"CEP290_000574"	"g.88523549dup"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"CEP290 c.774insT, p.Asn250fs"	"error in annotation, c.774insT (c.774dupT) causes p.(Arg259*), and not p.Asn250fs, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88129772dup"	""	"pathogenic"	""
"0000827194"	"0"	"90"	"12"	"88502959"	"88502959"	"subst"	"0"	"00000"	"CEP290_000572"	"g.88502959C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.2368-1G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827195"	"0"	"70"	"12"	"88533299"	"88533299"	"subst"	"4.23506E-6"	"00000"	"CEP290_000495"	"g.88533299T>C"	""	"{PMID:Colombo-2020:33576794}"	""	"c.223A>G"	""	"Germline"	""	"rs779010679"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827196"	"3"	"90"	"12"	"88512305"	"88512305"	"del"	"0.00174928"	"00000"	"CEP290_000030"	"g.88512305del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1666del"	""	"Germline"	""	"rs727503855"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000828756"	"0"	"90"	"12"	"88443068"	"88443069"	"ins"	"0"	"00000"	"CEP290_000575"	"g.88443068_88443069insTTCTC"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.1627G>T(;)7333_7334insAGAAG, V1: c.7333_7334insAGAAG, (p.Val2445GlufsTer3)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88049291_88049292insTTCTC"	""	"pathogenic"	"ACMG"
"0000828792"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.4962_4963del(;)6798G>A, V1: c.6798G>A, (p.Trp2266Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	"ACMG"
"0000828812"	"0"	"90"	"12"	"88483036"	"88483036"	"subst"	"1.21885E-5"	"00000"	"CEP290_000532"	"g.88483036G>A"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.3802C>T(;)6798G>A, V1: c.3802C>T, (p.Gln1268Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089259G>A"	""	"pathogenic"	"ACMG"
"0000828813"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.1666del(;)6798G>A, V1: c.1666delA, (p.Ile556PhefsTer17)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	"ACMG"
"0000828814"	"0"	"90"	"12"	"88476923"	"88476923"	"subst"	"0"	"00000"	"CEP290_000506"	"g.88476923G>A"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.4897C>T(;)6798G>A , V1: c.4897C>T, (p.Gln1633Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083146G>A"	""	"pathogenic"	"ACMG"
"0000828832"	"0"	"90"	"12"	"88454772"	"88454772"	"subst"	"4.6193E-5"	"00000"	"CEP290_000576"	"g.88454772C>T"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.[6358-1G>A];[?], V1: c.6358-1G>A,"	"single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified"	"Unknown"	"?"	""	"0"	""	""	"g.88060995C>T"	""	"pathogenic"	"ACMG"
"0000828897"	"0"	"90"	"12"	"88454772"	"88454772"	"subst"	"4.6193E-5"	"00000"	"CEP290_000576"	"g.88454772C>T"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.[6358-1G>A];[?], V1: c.6358-1G>A,"	"single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified"	"Unknown"	"?"	""	"0"	""	""	"g.88060995C>T"	""	"pathogenic"	"ACMG"
"0000828961"	"0"	"90"	"12"	"88512344"	"88512344"	"subst"	"8.87973E-6"	"00000"	"CEP290_000577"	"g.88512344C>A"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.1627G>T(;)7333_7334insAGAAG, V2: c.1627G>T, (p.Glu543Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118567C>A"	""	"pathogenic"	"ACMG"
"0000828997"	"0"	"90"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.4962_4963del(;)6798G>A, V2: c.4962_4963delAA, (p.Glu1656AsnfsTer3)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083081_88083082del"	""	"pathogenic"	"ACMG"
"0000829017"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.3802C>T(;)6798G>A, V2: c.6798G>A, (p.Trp2266Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	"ACMG"
"0000829018"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.1666del(;)6798G>A, V2: c.6798G>A, (p.Trp2266Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	"ACMG"
"0000829019"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	""	"{PMID:Chen 2021:43360855}"	""	"CEP290 c.4897C>T(;)6798G>A , V2: c.6798G>A, (p.Trp2266Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	"ACMG"
"0000829429"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829430"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829431"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829435"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829438"	"0"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.3811C>T (p.Arg1271*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829440"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829442"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829444"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.2991+1655A>G (p.Cys998*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829462"	"0"	"70"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"00000"	"CEP290_000276"	"g.88533296C>T"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.226G>A (p.(Ala76Thr))"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000830883"	"3"	"70"	"12"	"88477704"	"88477704"	"subst"	"0"	"00000"	"CEP290_000071"	"g.88477704C>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 4732G>T, E1578X"	""	"Germline"	"?"	""	"0"	""	""	"g.88083927C>A"	""	"likely pathogenic"	""
"0000830884"	"3"	"70"	"12"	"88477704"	"88477704"	"subst"	"0"	"00000"	"CEP290_000071"	"g.88477704C>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 4732G>T, E1578X"	""	"Germline"	"?"	""	"0"	""	""	"g.88083927C>A"	""	"likely pathogenic"	""
"0000830885"	"3"	"70"	"12"	"88477704"	"88477704"	"subst"	"0"	"00000"	"CEP290_000071"	"g.88477704C>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 4732G>T, E1578X"	""	"Germline"	"?"	""	"0"	""	""	"g.88083927C>A"	""	"likely pathogenic"	""
"0000830886"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 5668G>T, G1890X"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830887"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 5668G>T, G1890X"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830888"	"3"	"70"	"12"	"88465589"	"88465589"	"subst"	"0"	"00000"	"CEP290_000096"	"g.88465589G>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 5824C>T, Q1942X"	""	"Germline"	"?"	""	"0"	""	""	"g.88071812G>A"	""	"likely pathogenic"	""
"0000830889"	"3"	"70"	"12"	"88465589"	"88465589"	"subst"	"0"	"00000"	"CEP290_000096"	"g.88465589G>A"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 5824C>T, Q1942X"	""	"Germline"	"?"	""	"0"	""	""	"g.88071812G>A"	""	"likely pathogenic"	""
"0000830890"	"3"	"70"	"12"	"88487680"	"88487680"	"del"	"0"	"00000"	"CEP290_000056"	"g.88487680del"	""	"{PMID:Valente 2006:16682970}"	""	"CEP290 3176delT, I1059fsX1064"	""	"Germline"	"?"	""	"0"	""	""	"g.88093903del"	""	"likely pathogenic"	""
"0000830892"	"3"	"70"	"12"	"88505124"	"88505132"	"del"	"0"	"00000"	"CEP290_000119"	"g.88505124_88505132del"	""	"{PMID:Sayer 2006:16682973}"	""	"2218-2222delccagATAGA, 2218-2222delccagATAGA; obligatory splice site"	"error in annotation, this change should be annotated c.2218-1_2225del; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88111347_88111355del"	""	"likely pathogenic"	""
"0000830893"	"3"	"70"	"12"	"88505124"	"88505132"	"del"	"0"	"00000"	"CEP290_000119"	"g.88505124_88505132del"	""	"{PMID:Sayer 2006:16682973}"	""	"2218-2222delccagATAGA, 2218-2222delccagATAGA; obligatory splice site"	"error in annotation, this change should be annotated c.2218-1_2225del; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88111347_88111355del"	""	"likely pathogenic"	""
"0000830894"	"21"	"70"	"12"	"88478415"	"88478415"	"del"	"0"	"00000"	"CEP290_000067"	"g.88478415del"	""	"{PMID:Sayer 2006:16682973}"	""	"4656delA; K1552fsX1556"	"error in annotation, this change should be annotated p.(Glu1553Lysfster4); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88084638del"	""	"likely pathogenic"	""
"0000830895"	"0"	"70"	"12"	"88443066"	"88443066"	"dup"	"0"	"00000"	"CEP290_000111"	"g.88443066dup"	""	"{PMID:Sayer 2006:16682973}"	""	"7341-7342insA; L2448fsX2455"	"error in annotation, this change should be annotated p.(Leu2448Thrfster8); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88049289dup"	""	"likely pathogenic"	""
"0000830896"	"11"	"70"	"12"	"88477665"	"88477665"	"subst"	"0"	"00000"	"CEP290_000072"	"g.88477665G>A"	""	"{PMID:Sayer 2006:16682973}"	""	"C4771T; Q1591X"	"error in annotation, this change should be annotated p.(Gln1591ter); single heterozygous variant in a recessive disease"	"Unknown"	"?"	""	"0"	""	""	"g.88083888G>A"	""	"likely pathogenic"	""
"0000830897"	"11"	"70"	"12"	"88477665"	"88477665"	"subst"	"0"	"00000"	"CEP290_000072"	"g.88477665G>A"	""	"{PMID:Sayer 2006:16682973}"	""	"C4771T; Q1591X"	"error in annotation, this change should be annotated p.(Gln1591ter); single heterozygous variant in a recessive disease"	"Germline"	"yes"	""	"0"	""	""	"g.88083888G>A"	""	"likely pathogenic"	""
"0000830898"	"21"	"70"	"12"	"88471545"	"88471548"	"del"	"0"	"00000"	"CEP290_000084"	"g.88471545_88471548del"	""	"{PMID:Sayer 2006:16682973}"	""	"5515-5518delGAGA; E1839fsX1849"	"error in annotation, this change should be annotated p.(Glu1839Lysfster11); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077768_88077771del"	""	"likely pathogenic"	""
"0000830899"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sayer 2006:16682973}"	""	"G5668T; G1890X"	"error in annotation, this change should be annotated p.(Gly1890ter); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830900"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sayer 2006:16682973}"	""	"G5668T; G1890X"	"error in annotation, this change should be annotated p.(Gly1890ter); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830901"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sayer 2006:16682973}"	""	"G5668T; G1890X"	"error in annotation, this change should be annotated p.(Gly1890ter); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830902"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sayer 2006:16682973}"	""	"G5668T; G1890X"	"error in annotation, this change should be annotated p.(Gly1890ter); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830903"	"0"	"70"	"12"	"88456495"	"88456495"	"subst"	"0"	"00000"	"CEP290_000104"	"g.88456495G>A"	""	"{PMID:Sayer 2006:16682973}"	""	"C6331T; Q2111X"	"error in annotation, this change should be annotated p.(Gln2111ter); heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.88062718G>A"	""	"likely pathogenic"	""
"0000830904"	"11"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sayer 2006:16682973}"	""	"G5668T; G1890X"	"error in annotation, this change should be annotated p.(Gly1890ter); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000830905"	"0"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Sayer 2006:16682973}"	""	"3175-3176insA; I1059fsX1069"	"error in annotation, this change should be annotated; p.(Ile1059Asnfster11); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000830906"	"11"	"70"	"12"	"88471064"	"88471064"	"dup"	"0"	"00000"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:Sayer 2006:16682973}"	""	"5649insA; L1884fsX1906"	"error in annotation, this change should be annotated p.(Leu1884Thrfster23); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077287dup"	""	"likely pathogenic"	""
"0000830928"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000830929"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000830930"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000830931"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic (recessive)"	""
"0000830932"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830933"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830934"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830935"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830936"	"10"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830937"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830938"	"11"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830939"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830940"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830941"	"21"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830942"	"21"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830943"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830944"	"11"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830945"	"21"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830946"	"11"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830947"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2991+1655A>G (p.Cys998X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000830948"	"0"	"90"	"12"	"88505097"	"88505097"	"subst"	"5.38828E-6"	"00000"	"CEP290_000047"	"g.88505097A>C"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2249T>G p.Leu750X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88111320A>C"	""	"pathogenic"	""
"0000830949"	"0"	"90"	"12"	"88443066"	"88443066"	"dup"	"0"	"00000"	"CEP290_000111"	"g.88443066dup"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.7341dupA p.Leu2448ThrfsX7"	"all frameshifts\' annotations in the paper off by 1 nucleotide"	"Germline"	"yes"	""	"0"	""	""	"g.88049289dup"	""	"pathogenic"	""
"0000830950"	"0"	"90"	"12"	"88505566"	"88505570"	"dup"	"0"	"00000"	"CEP290_000042"	"g.88505566_88505570dup"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.2118_2122dupTCAGC p.Thr709SerfsX8"	"all frameshifts\' annotations in the paper off by 1 nucleotide"	"Germline"	"yes"	""	"0"	""	""	"g.88111789_88111793dup"	""	"pathogenic"	""
"0000830951"	"21"	"90"	"12"	"88465216"	"88465216"	"subst"	"0"	"00000"	"CEP290_000101"	"g.88465216C>A"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.5866G>T p.Glu1956X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88071439C>A"	""	"pathogenic"	""
"0000830952"	"21"	"90"	"12"	"88483024"	"88483024"	"subst"	"0"	"00000"	"CEP290_000061"	"g.88483024G>A"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.3814C>T p.Arg1272X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88089247G>A"	""	"pathogenic"	""
"0000830953"	"0"	"90"	"12"	"88523644"	"88523645"	"del"	"0"	"00000"	"CEP290_000023"	"g.88523644_88523645del"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.679_680delGA p.Glu227SerfsX1"	"all frameshifts\' annotations in the paper off by 1 nucleotide"	"Germline"	"yes"	""	"0"	""	""	"g.88129867_88129868del"	""	"pathogenic"	""
"0000830954"	"11"	"90"	"12"	"88532958"	"88532958"	"dup"	"0"	"00000"	"CEP290_000013"	"g.88532958dup"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.265dupA p.Thr89AsnfsX1"	"all frameshifts\' annotations in the paper off by 1 nucleotide"	"Germline"	"yes"	""	"0"	""	""	"g.88139181dup"	""	"pathogenic"	""
"0000830955"	"11"	"90"	"12"	"88534732"	"88534732"	"subst"	"0"	"00000"	"CEP290_000132"	"g.88534732C>A"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.180+1G>T Splice defect"	""	"Germline"	"yes"	""	"0"	""	""	"g.88140955C>A"	""	"pathogenic"	""
"0000830956"	"20"	"90"	"12"	"88512495"	"88512495"	"del"	"0"	"00000"	"CEP290_000029"	"g.88512495del"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.1550delT p.Leu517X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88118718del"	""	"pathogenic"	""
"0000830957"	"11"	"90"	"12"	"88481636"	"88481637"	"del"	"0"	"00000"	"CEP290_000065"	"g.88481636_88481637del"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.4115_4116delTA p.Ile1372LysfsX4"	"all frameshifts\' annotations in the paper off by 1 nucleotide"	"Germline"	"yes"	""	"0"	""	""	"g.88087859_88087860del"	""	"pathogenic"	""
"0000830958"	"21"	"90"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.4966G>T p.Glu1656X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083077C>A"	""	"pathogenic"	""
"0000830959"	"0"	"90"	"12"	"88465601"	"88465605"	"del"	"0"	"00000"	"CEP290_000095"	"g.88465601_88465605del"	""	"{PMID:Den Hollander 2006:16909394}"	""	"c.5813_5817delCTTTA p.Thr1938AsnfsX15"	"all frameshifts\' annotations in the paper off by 1 nucleotide"	"Germline"	"yes"	""	"0"	""	""	"g.88071824_88071828del"	""	"pathogenic"	""
"0000831003"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.4962_4963delAA, p.Gln1654GlnfsX4"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831004"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.2991+1655A>G, p.Cys998X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831005"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.3292G>T, p.Glu1098X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831006"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5163delT, p.The1721fsX2"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831007"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5226+1G>A, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831008"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5255-5256delGG, p.Arg1752ArgfsX7"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831009"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.2991+1655A>G, p.Cys998X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831010"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1219_1220delAT, p.Met407GlufsX13"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831011"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831012"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831013"	"1"	"70"	"12"	"88508313"	"88508313"	"subst"	"0"	"00000"	"CEP290_000039"	"g.88508313G>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.1936C>T, p.Gln646X; allele 2: c.6604delA, p.Ile2203LeufsX23"	""	"Germline"	"yes"	""	"0"	""	""	"g.88114536G>A"	""	"likely pathogenic"	""
"0000831014"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: ?, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831015"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1910-2A>G, Splice"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831016"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.2991+1655A>G, p.Cys998X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831017"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831018"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831019"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.3922C>T, p.Gln1308X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831020"	"2"	"70"	"12"	"88465567"	"88465567"	"del"	"0"	"00000"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.5850delT, p.Phe1950LeufsX14; allele 2: c.4661_4663delAAG, p.Glu1554del"	"error in annotation, protein variant should be p.(Phe1950Leufs*15) and not p.(Phe1950Leufs*14)"	"Germline"	"yes"	""	"0"	""	""	"g.88071790del"	""	"likely pathogenic"	""
"0000831021"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831022"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: ?, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831023"	"2"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.1709C>G, p.Ser570X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831024"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.4882C>T, p.Gln1628X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831025"	"2"	"70"	"12"	"88465567"	"88465567"	"del"	"0"	"00000"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.5850delT, p.Phe1950LeufsX14; allele 2: c.5587-1G>C, ?"	"error in annotation, protein variant should be p.(Phe1950Leufs*15) and not p.(Phe1950Leufs*14)"	"Germline"	"yes"	""	"0"	""	""	"g.88071790del"	""	"likely pathogenic"	""
"0000831026"	"1"	"70"	"12"	"88512450"	"88512450"	"subst"	"8.13319E-6"	"00000"	"CEP290_000004"	"g.88512450G>T"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.1593C>A, p.Tyr531X; allele 2: c.2T>A, p.Met1Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.88118673G>T"	""	"likely pathogenic"	""
"0000831027"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5163delT, p.The1721fsX2"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831028"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.3175insA, p.Ile1059AsnfsX10"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831029"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.4028delA, p.Lys1343ArgfsX1"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831030"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.6604delA, p.Ile2203LeufsX23"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831031"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1855-1858delAAAG, p.Lys619LysfsX3"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831032"	"2"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1992delT, p.Asp664AspfsX10"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831033"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.2991+1655A>G, p.Cys998X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831034"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831035"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.384-387delTAGA, p.Asp128GlufsX33"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831036"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5163delT, p.The1721fsX2"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831037"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.2991+1655A>G, p.Cys998X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831038"	"1"	"70"	"12"	"88512255"	"88512255"	""	"0"	"00000"	"CEP290_000578"	"g.88512255T="	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.1711+5G>A, Splice; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88118478T="	""	"likely pathogenic"	""
"0000831039"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831040"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831041"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: ?, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831042"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5850delT, p.Phe1950LeufsX14"	""	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831043"	"2"	"70"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.4962_4963delAA, p.Gln1654GlnfsX4"	"error in annotation, protein variant should be p.(Glu1656Asnfs*3) and not p.(Gln1654Glnfs*4)"	"Germline"	"yes"	""	"0"	""	""	"g.88083081_88083082del"	""	"likely pathogenic"	""
"0000831044"	"2"	"70"	"12"	"88487564"	"88487564"	"subst"	"0"	"00000"	"CEP290_000054"	"g.88487564C>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.3292G>T, p.Glu1098X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88093787C>A"	""	"likely pathogenic"	""
"0000831045"	"2"	"70"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00000"	"CEP290_000081"	"g.88474022del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5163delT, p.The1721fsX2"	"error in annotation, protein variant should be p.(Thr1722Glnfs*2) and not p.(The1721fs*2)"	"Germline"	"yes"	""	"0"	""	""	"g.88080245del"	""	"likely pathogenic"	""
"0000831046"	"2"	"70"	"12"	"88473958"	"88473958"	"subst"	"0"	"00000"	"CEP290_000130"	"g.88473958C>T"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5226+1G>A, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88080181C>T"	""	"likely pathogenic"	""
"0000831047"	"2"	"70"	"12"	"88472977"	"88472978"	"del"	"0"	"00000"	"CEP290_000082"	"g.88472977_88472978del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5255-5256delGG, p.Arg1752ArgfsX7"	"error in annotation, protein variant should be p.(Ala1753Argfs*7) and not p.(Arg1752Argfs*7)"	"Germline"	"yes"	""	"0"	""	""	"g.88079200_88079201del"	""	"likely pathogenic"	""
"0000831048"	"1"	"70"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1219_1220delAT, p.Met407GlufsX13"	"error in annotation, protein variant should be p.(Met407Glufs*14) and not p.(Met407Glufs*13)"	"Germline"	"yes"	""	"0"	""	""	"g.88121138_88121139del"	""	"likely pathogenic"	""
"0000831049"	"2"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831050"	"2"	"70"	"12"	"88453721"	"88453721"	"del"	"0"	"00000"	"CEP290_000106"	"g.88453721del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.1936C>T, p.Gln646X; allele 2: c.6604delA, p.Ile2203LeufsX23"	"error in annotation, protein variant should be p.(Ile2202Leufs*24) and not p.(Ile2202Leufs*23)"	"Germline"	"yes"	""	"0"	""	""	"g.88059944del"	""	"likely pathogenic"	""
"0000831051"	"1"	"70"	"12"	"88508341"	"88508341"	"subst"	"0"	"00000"	"CEP290_000579"	"g.88508341T>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1910-2A>G, Splice"	""	"Germline"	"yes"	""	"0"	""	""	"g.88114564T>C"	""	"likely pathogenic"	""
"0000831052"	"2"	"70"	"12"	"88482916"	"88482916"	"subst"	"0"	"00000"	"CEP290_000063"	"g.88482916G>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.3922C>T, p.Gln1308X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88089139G>A"	""	"likely pathogenic"	""
"0000831053"	"1"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.5850delT, p.Phe1950LeufsX14; allele 2: c.4661_4663delAAG, p.Glu1554del"	""	"Germline"	"yes"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000831054"	"2"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831055"	"1"	"70"	"12"	"88512262"	"88512262"	"subst"	"0"	"00000"	"CEP290_000032"	"g.88512262G>C"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.1709C>G, p.Ser570X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88118485G>C"	""	"likely pathogenic"	""
"0000831056"	"2"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.4882C>T, p.Gln1628X"	""	"Germline"	"yes"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831057"	"1"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.5850delT, p.Phe1950LeufsX14; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831058"	"2"	"70"	"12"	"88535083"	"88535083"	"subst"	"4.11353E-6"	"00000"	"CEP290_000003"	"g.88535083A>T"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.1593C>A, p.Tyr531X; allele 2: c.2T>A, p.Met1Lys"	"error in annotation, initiation codon mutation; protein variant should be annotated p.(Met1?) and not p.(Met1Lys)"	"Germline"	"yes"	""	"0"	""	""	"g.88141306A>T"	""	"likely pathogenic"	""
"0000831059"	"2"	"70"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00000"	"CEP290_000081"	"g.88474022del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5163delT, p.The1721fsX2"	"error in annotation, protein variant should be p.(Thr1722Glnfs*2) and not p.(The1721fs*2)"	"Germline"	"yes"	""	"0"	""	""	"g.88080245del"	""	"likely pathogenic"	""
"0000831060"	"2"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.3175insA, p.Ile1059AsnfsX10"	"variant automapped to c.3175dupA"	"Germline"	"yes"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000831061"	"2"	"70"	"12"	"88482813"	"88482813"	"del"	"0"	"00000"	"CEP290_000059"	"g.88482813del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.4028delA, p.Lys1343ArgfsX1"	"error in annotation, protein variant should be p.(Lys1343Argfs*2) and not p.(Lys1343Argfs*1)"	"Germline"	"yes"	""	"0"	""	""	"g.88089036del"	""	"likely pathogenic"	""
"0000831062"	"2"	"70"	"12"	"88453721"	"88453721"	"del"	"0"	"00000"	"CEP290_000106"	"g.88453721del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.6604delA, p.Ile2203LeufsX23"	"error in annotation, protein variant should be p.(Ile2202Leufs*24) and not p.(Ile2203Leufs*23)"	"Germline"	"yes"	""	"0"	""	""	"g.88059944del"	""	"likely pathogenic"	""
"0000831063"	"1"	"70"	"12"	"88508926"	"88508929"	"del"	"0"	"00000"	"CEP290_000036"	"g.88508926_88508929del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1855-1858delAAAG, p.Lys619LysfsX3"	"error in annotation, protein variant should be p.(Arg621Ilefs*2) and not p.(Lys619Lysfs*3)"	"Germline"	"yes"	""	"0"	""	""	"g.88115149_88115152del"	""	"likely pathogenic"	""
"0000831064"	"1"	"70"	"12"	"88508257"	"88508257"	"del"	"0"	"00000"	"CEP290_000038"	"g.88508257del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.1992delT, p.Asp664AspfsX10"	"error in annotation, protein variant should be p.(Pro665Leufs*10) and not p.(Asp664Aspfs*10)"	"Germline"	"yes"	""	"0"	""	""	"g.88114480del"	""	"likely pathogenic"	""
"0000831065"	"2"	"70"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.384-387delTAGA, p.Asp128GlufsX33"	"error in annotation, protein variant should be p.(Asp128Glufs*34) and not p.(Asp128Glufs*33)"	"Germline"	"yes"	""	"0"	""	""	"g.88136700_88136703del"	""	"likely pathogenic"	""
"0000831066"	"2"	"70"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00000"	"CEP290_000081"	"g.88474022del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5163delT, p.The1721fsX2"	"error in annotation, protein variant should be p.(Thr1722Glnfs*2) and not p.(The1721fs*2)"	"Germline"	"yes"	""	"0"	""	""	"g.88080245del"	""	"likely pathogenic"	""
"0000831067"	"2"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.1711+5G>A, Splice; allele 2: c.5587-1G>C, ?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831068"	"2"	"70"	"12"	"88465567"	"88465567"	"del"	"0"	"00000"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Perrault 2007:17345604}"	""	"CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5850delT, p.Phe1950LeufsX14"	"error in annotation, protein variant should be p.(Phe1950Leufs*15) and not p.(Phe1950Leufs*14)"	"Germline"	"yes"	""	"0"	""	""	"g.88071790del"	""	"likely pathogenic"	""
"0000831081"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"change on second allele not determined"	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831082"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	""	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831083"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	""	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831084"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	""	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831085"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	""	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831086"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	""	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831087"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	""	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831088"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"change on second allele not determined"	"Germline"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831092"	"2"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.4882C>T, p.Q1628X"	""	"Germline"	"?"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831093"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.5668G>T, p.G1890X"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831094"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.5668G>T, p.G1890X"	""	"Germline"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831095"	"2"	"70"	"12"	"88514869"	"88514873"	"del"	"0"	"00000"	"CEP290_000025"	"g.88514869_88514873del"	""	"{PMID:Cideciyan 2007:17554762}"	""	"CEP290 c.1260_1264delTAAAG, p.T420fs"	"error in annotation: c.1260_1264delTAAAG causes p.(Lys421GlyfsTer2) and not (p.Thr420fs)"	"Germline"	"?"	""	"0"	""	""	"g.88121092_88121096del"	""	"likely pathogenic"	""
"0000831132"	"0"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5668G>T, G1890X"	"no variant detected on the other allele"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831133"	"0"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4393C>T, R1465X"	"no variant detected on the other allele"	"Germline"	"yes"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831134"	"0"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4393C>T?, R1465X"	"no variant detected on the other allele"	"Germline"	"yes"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831135"	"0"	"70"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Brancati 2007:17564967}"	""	"5489_5493delA, K1829fsX1850"	"error in annotation, this change should be annotated as c.5493delA and not 5489_5493delA, protein change A1832PfsX19 and not K1829fsX1850 ; no variant detected on the other allele"	"Germline"	"yes"	""	"0"	""	""	"g.88077794del"	""	"likely pathogenic"	""
"0000831136"	"0"	"70"	"12"	"88449443"	"88449443"	"del"	"0"	"00000"	"CEP290_000108"	"g.88449443del"	""	"{PMID:Brancati 2007:17564967}"	""	"6870delT, N2290fsX2300"	"error in annotation, this protein change should be annotated as Q2291KfsX10 and not  N2290fsX2300; no variant detected on the other allele"	"Germline"	"yes"	""	"0"	""	""	"g.88055666del"	""	"likely pathogenic"	""
"0000831137"	"0"	"70"	"12"	"88449443"	"88449443"	"del"	"0"	"00000"	"CEP290_000108"	"g.88449443del"	""	"{PMID:Brancati 2007:17564967}"	""	"6870delT, N2290fsX2300"	"error in annotation, this protein change should be annotated as Q2291KfsX10 and not  N2290fsX2300; no variant detected on the other allele"	"Germline"	"yes"	""	"0"	""	""	"g.88055666del"	""	"likely pathogenic"	""
"0000831138"	"3"	"70"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00000"	"CEP290_000081"	"g.88474022del"	""	"{PMID:Brancati 2007:17564967}"	""	"5163delT, T1721fsX1723"	"error in annotation, this protein change should be annotated as T1722QfsX2 and not T1721fsX1723; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88080245del"	""	"likely pathogenic"	""
"0000831139"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5668G>T, G1890X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831140"	"3"	"70"	"12"	"88477646"	"88477649"	"del"	"0"	"00000"	"CEP290_000074"	"g.88477646_88477649del"	""	"{PMID:Brancati 2007:17564967}"	""	"4786_4790delTAAA, S1595fsX1599"	"error in annotation, this change should be annotated as c.4792_4795delTAAA and not 4786_4790delTAAA, protein change K1598SfsX8 and not S1595fsX1599; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083869_88083872del"	""	"likely pathogenic"	""
"0000831141"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5668G>T, G1890X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831142"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5668G>T, G1890X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831143"	"3"	"70"	"12"	"88465691"	"88465691"	"subst"	"0"	"00000"	"CEP290_000094"	"g.88465691C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5722G>T, E1908X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071914C>A"	""	"likely pathogenic"	""
"0000831144"	"1"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Brancati 2007:17564967}"	""	"1657_1666delA, L552fsX572"	"error in annotation, this change should be annotated as c.1666delA and not 1657_1666delA, protein change I556FfsX17 and not L552fsX572; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88118537del"	""	"likely pathogenic"	""
"0000831145"	"1"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4882C>T, Q1628X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831146"	"1"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4882C>T, Q1628X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831147"	"1"	"70"	"12"	"88512289"	"88512289"	"del"	"0"	"00000"	"CEP290_000585"	"g.88512289del"	""	"{PMID:Brancati 2007:17564967}"	""	"1682_1683delA, A560fsX572"	"error in annotation, this change should be annotated as c.1683delA and not 1682_1683delA, protein change E562KfsX11 and not A560fsX572; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88118512del"	""	"likely pathogenic"	""
"0000831148"	"1"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4882C>T, Q1628X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831149"	"1"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"3811C>T, R1271X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089250G>A"	""	"likely pathogenic"	""
"0000831150"	"1"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"3811C>T, R1271X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089250G>A"	""	"likely pathogenic"	""
"0000831151"	"1"	"70"	"12"	"88508264"	"88508264"	"subst"	"0"	"00000"	"CEP290_000037"	"g.88508264T>A"	""	"{PMID:Brancati 2007:17564967}"	""	"1985A>T, Q662X"	"error in annotation, this variant 1985A>T causes a missense protein change Q662L and not nonsense Q662X; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88114487T>A"	""	"likely pathogenic"	""
"0000831152"	"1"	"70"	"12"	"88471628"	"88471629"	"del"	"0"	"00000"	"CEP290_000086"	"g.88471628_88471629del"	""	"{PMID:Brancati 2007:17564967}"	""	"5431_5433delGA, N1810fsX1816"	"error in annotation, this change should be annotated asc.5434_5435del and not 5431_5433delGA, protein change E1812KfsX5 and not N1810fsX1816; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077851_88077852del"	""	"likely pathogenic"	""
"0000831153"	"1"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Brancati 2007:17564967}"	""	"3167_3175insA, I1055fsX1069"	"error in annotation, this change should be annotated as c.3175dupA and not 3167_3175insA, protein change I1059NfsX11 and not I1055fsX1069; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000831154"	"1"	"70"	"12"	"88462362"	"88462362"	"subst"	"0"	"00000"	"CEP290_000102"	"g.88462362G>T"	""	"{PMID:Brancati 2007:17564967}"	""	"6072C>A, Y2024X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88068585G>T"	""	"likely pathogenic"	""
"0000831155"	"1"	"70"	"12"	"88462362"	"88462362"	"subst"	"0"	"00000"	"CEP290_000102"	"g.88462362G>T"	""	"{PMID:Brancati 2007:17564967}"	""	"6072C>A, Y2024X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88068585G>T"	""	"likely pathogenic"	""
"0000831156"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4393C>T, R1465X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831157"	"2"	"70"	"12"	"88462403"	"88462403"	"subst"	"0"	"00000"	"CEP290_000103"	"g.88462403G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"6031C>T, R2011X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88068626G>A"	""	"likely pathogenic"	""
"0000831158"	"2"	"70"	"12"	"88471097"	"88471100"	"del"	"0"	"00000"	"CEP290_000090"	"g.88471097_88471100del"	""	"{PMID:Brancati 2007:17564967}"	""	"5610delCAAA, K1870fsX1872"	"error in annotation, this change should be annotated as c.5611_5614delCAAA and not 5610delCAAA, protein change Q1871VfsX2 and not K1870fsX1872; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077320_88077323del"	""	"likely pathogenic"	""
"0000831159"	"2"	"70"	"12"	"88471097"	"88471100"	"del"	"0"	"00000"	"CEP290_000090"	"g.88471097_88471100del"	""	"{PMID:Brancati 2007:17564967}"	""	"5610delCAAA, K1870fsX1872"	"error in annotation, this change should be annotated as c.5611_5614delCAAA and not 5610delCAAA, protein change Q1871VfsX2 and not K1870fsX1872; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077320_88077323del"	""	"likely pathogenic"	""
"0000831160"	"2"	"70"	"12"	"88483024"	"88483024"	"subst"	"0"	"00000"	"CEP290_000061"	"g.88483024G>A"	""	"{PMID:Brancati 2007:17564967}"	""	"3814C>T, R1272X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089247G>A"	""	"likely pathogenic"	""
"0000831161"	"2"	"70"	"12"	"88465141"	"88465141"	"subst"	"4.08627E-6"	"00000"	"CEP290_000098"	"g.88465141C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5941G>T, E1981X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071364C>A"	""	"likely pathogenic"	""
"0000831162"	"2"	"70"	"12"	"88465679"	"88465679"	"del"	"0"	"00000"	"CEP290_000093"	"g.88465679del"	""	"{PMID:Brancati 2007:17564967}"	""	"5734delT, R1911fsX1922"	"error in annotation, this protein change should be annotated as W1912GfsX11 and not R1911fsX1922; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071902del"	""	"likely pathogenic"	""
"0000831163"	"2"	"70"	"12"	"88465679"	"88465679"	"del"	"0"	"00000"	"CEP290_000093"	"g.88465679del"	""	"{PMID:Brancati 2007:17564967}"	""	"5734delT, R1911fsX1922"	"error in annotation, this protein change should be annotated as W1912GfsX11 and not R1911fsX1922; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071902del"	""	"likely pathogenic"	""
"0000831164"	"2"	"70"	"12"	"88456549"	"88456549"	"del"	"5.26848E-5"	"00000"	"CEP290_000105"	"g.88456549del"	""	"{PMID:Brancati 2007:17564967}"	""	"6277delG, V2092fsX2096"	"error in annotation, this protein change should be annotated as V2093SfsX4 and not V2092fsX2096; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88062772del"	""	"likely pathogenic"	""
"0000831165"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5668G>T, G1890X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831166"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Brancati 2007:17564967}"	""	"5668G>T, G1890X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831167"	"2"	"70"	"12"	"88443081"	"88443084"	"dup"	"0"	"00000"	"CEP290_000112"	"g.88443081_88443084dup"	""	"{PMID:Brancati 2007:17564967}"	""	"7321dupCTCT, L2440fsX2456"	"error in annotation, this change should be annotated as c.7318_7321dupCTCT and not 7321dupCTCT, protein change L2441SfsX16 and not L2440fsX2456; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88049304_88049307dup"	""	"likely pathogenic"	""
"0000831168"	"2"	"70"	"12"	"88443081"	"88443084"	"dup"	"0"	"00000"	"CEP290_000112"	"g.88443081_88443084dup"	""	"{PMID:Brancati 2007:17564967}"	""	"7321dupCTCT, L2440fsX2456"	"error in annotation, this change should be annotated as c.7318_7321dupCTCT and not 7321dupCTCT, protein change L2441SfsX16 and not L2440fsX2456; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88049304_88049307dup"	""	"likely pathogenic"	""
"0000831169"	"2"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Brancati 2007:17564967}"	""	"4723A>T, K1575X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831179"	"11"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Helou 2008:17617513}"	""	"C3811T, R1271X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089250G>A"	""	"likely pathogenic"	""
"0000831180"	"11"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Helou 2008:17617513}"	""	"C3811T, R1271X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089250G>A"	""	"likely pathogenic"	""
"0000831181"	"0"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Helou 2008:17617513}"	""	"C4882T, Q1628X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831182"	"11"	"70"	"12"	"88519147"	"88519147"	"subst"	"0"	"00000"	"CEP290_000114"	"g.88519147C>T"	""	"{PMID:Helou 2008:17617513}"	""	"1066-1G>A, splice site"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88125370C>T"	""	"likely pathogenic"	""
"0000831183"	"0"	"70"	"12"	"88535084"	"88535084"	"subst"	"0"	"00000"	"CEP290_000010"	"g.88535084T>C"	""	"{PMID:Helou 2008:17617513}"	""	"A1G, Start codon defect"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88141307T>C"	""	"likely pathogenic"	""
"0000831184"	"21"	"70"	"12"	"88505097"	"88505097"	"subst"	"5.38828E-6"	"00000"	"CEP290_000047"	"g.88505097A>C"	""	"{PMID:Helou 2008:17617513}"	""	"T2249G, L750X"	"single heterozygous variant in a recessive disease"	"Germline"	"yes"	""	"0"	""	""	"g.88111320A>C"	""	"likely pathogenic"	""
"0000831185"	"0"	"70"	"12"	"88534747"	"88534750"	"del"	"0"	"00000"	"CEP290_000012"	"g.88534747_88534750del"	""	"{PMID:Helou 2008:17617513}"	""	"164_167del CTCA, T55fsX57"	"single heterozygous variant in a recessive disease"	"Unknown"	"?"	""	"0"	""	""	"g.88140970_88140973del"	""	"likely pathogenic"	""
"0000831186"	"21"	"70"	"12"	"88487754"	"88487754"	"subst"	"0"	"00000"	"CEP290_000123"	"g.88487754T>C"	""	"{PMID:Helou 2008:17617513}"	""	"3104-2A>G, Splice site"	"single heterozygous variant in a recessive disease"	"Germline"	"yes"	""	"0"	""	""	"g.88093977T>C"	""	"likely pathogenic"	""
"0000831187"	"0"	"70"	"12"	"88465150"	"88465150"	"subst"	"1.22652E-5"	"00000"	"CEP290_000099"	"g.88465150G>A"	""	"{PMID:Helou 2008:17617513}"	""	"C5932T, R1978X"	"single heterozygous variant in a recessive disease"	"Unknown"	"?"	""	"0"	""	""	"g.88071373G>A"	""	"likely pathogenic"	""
"0000831188"	"21"	"70"	"12"	"88465679"	"88465679"	"del"	"0"	"00000"	"CEP290_000093"	"g.88465679del"	""	"{PMID:Helou 2008:17617513}"	""	"5734delT, W1912fsX1923"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071902del"	""	"likely pathogenic"	""
"0000831189"	"21"	"70"	"12"	"88465679"	"88465679"	"del"	"0"	"00000"	"CEP290_000093"	"g.88465679del"	""	"{PMID:Helou 2008:17617513}"	""	"5734delT, W1912fsX1923"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071902del"	""	"likely pathogenic"	""
"0000831190"	"0"	"70"	"12"	"88465141"	"88465141"	"subst"	"4.08627E-6"	"00000"	"CEP290_000098"	"g.88465141C>A"	""	"{PMID:Helou 2008:17617513}"	""	"G5941T, E1981X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071364C>A"	""	"likely pathogenic"	""
"0000831191"	"20"	"70"	"12"	"88474022"	"88474022"	"del"	"8.15973E-6"	"00000"	"CEP290_000081"	"g.88474022del"	""	"{PMID:Helou 2008:17617513}"	""	"5163delT, T1721fsX1723"	"error in annotation, this protein change should be annotated as T1722QfsX2 and not T1721fsX1723; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88080245del"	""	"likely pathogenic"	""
"0000831192"	"0"	"70"	"12"	"88513993"	"88513997"	"del"	"0"	"00000"	"CEP290_000027"	"g.88513993_88513997del"	""	"{PMID:Helou 2008:17617513}"	""	"1419-1423del AATAA, K473fsX478"	"error in annotation, this protein change should be annotated as I474RfsX5 and not K473fsX478; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120216_88120220del"	""	"likely pathogenic"	""
"0000831195"	"3"	"70"	"12"	"88513900"	"88513903"	"del"	"0"	"00000"	"CEP290_000273"	"g.88513900_88513903del"	""	"{PMID:Aboussair 2010:20056295}"	""	"c.1511_1514delGAGA"	"c.1511_1514del automapped to NM_025114.3:c.1512_1515del"	"Germline"	"yes"	""	"0"	""	""	"g.88120123_88120126del"	""	"likely pathogenic"	""
"0000831215"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.2991-1655A/G, p.Cys998X"	"error in annotation \"\"-\"\" instead of \"\"+\"\" in the mutation name on cDNA level"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831216"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.4723A/T, p.Lys1575X"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831217"	"3"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.4723A/T, p.Lys1575X"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831218"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.2991-1655A/G, p.Cys998X"	"error in annotation \"\"-\"\" instead of \"\"+\"\" in the mutation name on cDNA level"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831219"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.2991-1655A/G, p.Cys998X"	"error in annotation \"\"-\"\" instead of \"\"+\"\" in the mutation name on cDNA level"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831220"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.2991-1655A/G, p.Cys998X"	"error in annotation \"\"-\"\" instead of \"\"+\"\" in the mutation name on cDNA level"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831221"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.2991-1655A/G, p.Cys998X"	"error in annotation \"\"-\"\" instead of \"\"+\"\" in the mutation name on cDNA level"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831222"	"2"	"70"	"12"	"88482813"	"88482813"	"del"	"0"	"00000"	"CEP290_000059"	"g.88482813del"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.4028delA, p.Lys1343ArgfsX1"	""	"Unknown"	"?"	""	"0"	""	""	"g.88089036del"	""	"likely pathogenic"	""
"0000831223"	"2"	"70"	"12"	"88482916"	"88482916"	"subst"	"0"	"00000"	"CEP290_000063"	"g.88482916G>A"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.3922C/T, p.Gin1308X"	""	"Unknown"	"?"	""	"0"	""	""	"g.88089139G>A"	""	"likely pathogenic"	""
"0000831224"	"2"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.5587-1G/C"	""	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831225"	"2"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Papon 2010:20805370}"	""	"CEP290 c.5587-1G/C"	""	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831226"	"11"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Molin 2013:23954617}"	""	"CEP290 p.Gly1890X"	"no cDNA description in paper, extrapolated from protein annotation"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000831227"	"21"	"90"	"12"	"86988872"	"88826736"	"del"	"0"	"00000"	"CEP290_000518"	"g.86988872_88826736del"	""	"{PMID:Molin 2013:23954617}"	""	"CEP290 (46,XX.arr12q21.33(86,988,872-88,826,736)  1 hg19)"	"12q21 deletion"	"Germline"	"yes"	""	"0"	""	""	"g.86595096_88432960del"	""	"pathogenic"	""
"0000831228"	"3"	"90"	"12"	"88471042"	"88471042"	"del"	"0"	"00000"	"CEP290_000582"	"g.88471042del"	""	"{PMID:Ghaffari 2014:24175892}"	""	"CEP290 c.5666delA, p.(Glu1889Glyfs*7"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077265del"	""	"pathogenic"	""
"0000831229"	"3"	"90"	"12"	"88471042"	"88471042"	"del"	"0"	"00000"	"CEP290_000582"	"g.88471042del"	""	"{PMID:Ghaffari 2014:24175892}"	""	"CEP290 c.5666delA, p.(Glu1889Glyfs*7"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077265del"	""	"pathogenic"	""
"0000831230"	"3"	"90"	"12"	"88471042"	"88471042"	"del"	"0"	"00000"	"CEP290_000582"	"g.88471042del"	""	"{PMID:Ghaffari 2014:24175892}"	""	"CEP290 c.5666delA, p.(Glu1889Glyfs*7"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077265del"	""	"pathogenic"	""
"0000831237"	"21"	"90"	"12"	"88443074"	"88443078"	"del"	"0"	"00000"	"CEP290_000433"	"g.88443074_88443078del"	""	"{PMID:Wang 2015:24850569}"	""	"CEP290 c.7323_7327delAGAAG, p.Leu2441LeufsX13"	"error in annotation, this protein change should be annotated p.(Glu2443Glyfs*11) and not p.(Leu2441Leufs*13)"	"Germline"	"yes"	""	"0"	""	""	"g.88049297_88049301del"	""	"pathogenic"	""
"0000831238"	"11"	"90"	"12"	"88462424"	"88462424"	"subst"	"0"	"00000"	"CEP290_000457"	"g.88462424T>C"	""	"{PMID:Wang 2015:24850569}"	""	"CEP290 c.6012-2A>G, p.?"	""	"Germline"	"yes"	""	"0"	""	""	"g.88068647T>C"	""	"pathogenic"	""
"0000831401"	"3"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sonmez 2020:25818971}"	""	"CEP290 c.5668G>T (p.G1890*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000831449"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831450"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	"single heterozygous mutation in a recessive gene"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831451"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831452"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831453"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4393C>T, p.(Arg1465*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831454"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4393C>T, p.(Arg1465*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831455"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4393C>T, p.(Arg1465*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831456"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4393C>T, p.(Arg1465*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831457"	"1"	"70"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"00000"	"CEP290_000066"	"g.88479860G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4393C>T, p.(Arg1465*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88086083G>A"	""	"likely pathogenic"	""
"0000831458"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831459"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4723A>T, p.(Lys1575*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831460"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	"single heterozygous mutation in a recessive gene"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831461"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831462"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4723A>T, p.(Lys1575*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831463"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831464"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831465"	"1"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4723A>T, p.(Lys1575*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831466"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831467"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831468"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	"single heterozygous mutation in a recessive gene"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831469"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831470"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831471"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831472"	"3"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.5668G>T, p.(Gly1890*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831473"	"1"	"70"	"12"	"88512290"	"88512290"	"subst"	"0"	"00000"	"CEP290_000272"	"g.88512290G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.1681C>T, p.(Gln561*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88118513G>A"	""	"likely pathogenic"	""
"0000831474"	"1"	"70"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"00000"	"CEP290_000296"	"g.88465636C>G"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.5777G>C, p.(Arg1926Pro)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88071859C>G"	""	"likely pathogenic"	""
"0000831475"	"1"	"70"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"00000"	"CEP290_000296"	"g.88465636C>G"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.5777G>C, p.(Arg1926Pro)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88071859C>G"	""	"likely pathogenic"	""
"0000831476"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831477"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831478"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831479"	"0"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.3175dupA, p.(Ile1059Asnfs*11)"	"single heterozygous mutation in a recessive gene"	"Unknown"	"?"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000831480"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831481"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831482"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831483"	"3"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.148C>T, p.(His50Tyr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"likely pathogenic"	""
"0000831484"	"3"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4661_4663delAAG, p.(1554delGlu)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000831485"	"3"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4661_4663delAAG, p.(1554delGlu)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000831486"	"3"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00000"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.4661_4663delAAG, p.(1554delGlu)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88084633_88084635del"	""	"likely pathogenic"	""
"0000831487"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831488"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Sheck 2018:29398085}"	""	"CEP290 c.2991+1655A>G, p.(Cys998*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831489"	"2"	"50"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"00000"	"CEP290_000341"	"g.88496626C>T"	""	"{PMID:Sheck 2018:29398085}"	""	"c.2980G>A, p.(Glu994Lys)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88102849C>T"	""	"VUS"	""
"0000831490"	"2"	"70"	"12"	"88519049"	"88519049"	"subst"	"0"	"00000"	"CEP290_000586"	"g.88519049A>T"	""	"{PMID:Sheck 2018:29398085}"	""	"c.1163T>A, p.(Leu388*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88125272A>T"	""	"likely pathogenic"	""
"0000831491"	"2"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.148C>T, p.(His50Tyr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"likely pathogenic"	""
"0000831492"	"2"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.148C>T, p.(His50Tyr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"likely pathogenic"	""
"0000831493"	"2"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.148C>T, p.(His50Tyr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"likely pathogenic"	""
"0000831494"	"2"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.148C>T, p.(His50Tyr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"likely pathogenic"	""
"0000831495"	"2"	"70"	"12"	"88534765"	"88534765"	"subst"	"0"	"00000"	"CEP290_000154"	"g.88534765G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.148C>T, p.(His50Tyr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88140988G>A"	""	"likely pathogenic"	""
"0000831496"	"2"	"70"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00000"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.1984C>T, p.(Gln662*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88114488G>A"	""	"likely pathogenic"	""
"0000831497"	"2"	"70"	"12"	"88523611"	"88523611"	"subst"	"0"	"00000"	"CEP290_000587"	"g.88523611C>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.712G>T, p.(Glu238*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88129834C>A"	""	"likely pathogenic"	""
"0000831498"	"2"	"70"	"12"	"88456549"	"88456549"	"del"	"5.26848E-5"	"00000"	"CEP290_000105"	"g.88456549del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.6277delG, p.(Val2093fs)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88062772del"	""	"likely pathogenic"	""
"0000831499"	"2"	"70"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4966G>T, p.(Glu1656*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083077C>A"	""	"likely pathogenic"	""
"0000831500"	"2"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Sheck 2018:29398085}"	""	"c.3175dupA, p.(Ile1059Asnfs*11)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000831501"	"2"	"70"	"12"	"88462355"	"88462355"	"del"	"0"	"00000"	"CEP290_000581"	"g.88462355del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.6079delG, p.(Glu2027Lysfs*5)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88068578del"	""	"likely pathogenic"	""
"0000831502"	"2"	"70"	"12"	"88510853"	"88510853"	"subst"	"2.26626E-5"	"00000"	"CEP290_000156"	"g.88510853A>T"	""	"{PMID:Sheck 2018:29398085}"	""	"c.1781T>A, p.(Leu594*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88117076A>T"	""	"likely pathogenic"	""
"0000831503"	"2"	"70"	"12"	"88530477"	"88530480"	"del"	"0"	"00000"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.384_387delTAGA, p.(Asp128Glufs*34)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88136700_88136703del"	""	"likely pathogenic"	""
"0000831504"	"2"	"70"	"12"	"88519147"	"88519147"	"subst"	"0"	"00000"	"CEP290_000114"	"g.88519147C>T"	""	"{PMID:Sheck 2018:29398085}"	""	"c.1066-1G>A, splice"	""	"Unknown"	"?"	""	"0"	""	""	"g.88125370C>T"	""	"likely pathogenic"	""
"0000831505"	"2"	"70"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4966G>T, p.(Glu1656*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083077C>A"	""	"likely pathogenic"	""
"0000831506"	"2"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4723A>T, p.(Lys1575*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831507"	"2"	"70"	"12"	"88448124"	"88448124"	"del"	"0"	"00000"	"CEP290_000493"	"g.88448124del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.7027delG, p.(Val2343Phefs*4)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88054347del"	""	"likely pathogenic"	""
"0000831508"	"2"	"70"	"12"	"88476856"	"88476857"	"del"	"0"	"00000"	"CEP290_000077"	"g.88476856_88476857del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4966_4967delGA, p.(Glu1656Asnfs*3)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083079_88083080del"	""	"likely pathogenic"	""
"0000831509"	"2"	"70"	"12"	"88476856"	"88476857"	"del"	"0"	"00000"	"CEP290_000077"	"g.88476856_88476857del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4966_4967delGA, p.(Glu1656Asnfs*3)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083079_88083080del"	""	"likely pathogenic"	""
"0000831510"	"2"	"70"	"12"	"88530479"	"88530480"	"delins"	"0"	"00000"	"CEP290_000017"	"g.88530479_88530480delinsA"	""	"{PMID:Sheck 2018:29398085}"	""	"c.381_382delAGinsT, p.(Lys127Asnfs36*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88136702_88136703delinsA"	""	"likely pathogenic"	""
"0000831511"	"2"	"70"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.1219_1220delAT, p.(Met407Glufs*13)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"likely pathogenic"	""
"0000831512"	"2"	"70"	"12"	"88447510"	"88447510"	"subst"	"0"	"00000"	"CEP290_000253"	"g.88447510G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.7048C>T, p.(Gln2350*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88053733G>A"	""	"likely pathogenic"	""
"0000831513"	"2"	"70"	"12"	"88476854"	"88476854"	"subst"	"3.70261E-5"	"00000"	"CEP290_000076"	"g.88476854C>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4966G>T, p.(Glu1656*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083077C>A"	""	"likely pathogenic"	""
"0000831514"	"2"	"70"	"12"	"88465141"	"88465141"	"subst"	"4.08627E-6"	"00000"	"CEP290_000098"	"g.88465141C>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.5941G>T, p.(Glu1981*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88071364C>A"	""	"likely pathogenic"	""
"0000831515"	"2"	"70"	"12"	"88477635"	"88477635"	"subst"	"0"	"00000"	"CEP290_000442"	"g.88477635G>A"	""	"{PMID:Sheck 2018:29398085}"	""	"c.4801C>T, p.(Gln1601*)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88083858G>A"	""	"likely pathogenic"	""
"0000831516"	"2"	"70"	"12"	"88532948"	"88532952"	"del"	"0"	"00000"	"CEP290_000407"	"g.88532948_88532952del"	""	"{PMID:Sheck 2018:29398085}"	""	"c.270_274delAGTAA, p.(Lys90Asnfs*6)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88139171_88139175del"	""	"likely pathogenic"	""
"0000831517"	"2"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Sheck 2018:29398085}"	""	"c.3175dupA, p.(Ile1059Asnfs*11)"	""	"Unknown"	"?"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000831632"	"1"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Barny 2018:29771326}"	""	"c.1666del (p.Ile556Phefs*17)"	"basal exon skipping (BES) of Exon 18, providing mutant cells with the ability to escape protein truncation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000831633"	"1"	"90"	"12"	"88524330"	"88524330"	"subst"	"1.37501E-5"	"00000"	"CEP290_000430"	"g.88524330T>A"	""	"{PMID:Barny 2018:29771326}"	""	"c.508A>T (p.Lys170*)"	"some CEP290 lacking Exon 8 were detected in mutant fibroblasts but not in controls whereas some skipping of Exon 32 occurred in both lines, but with higher amplitude in the mutant. Considering that the deletion of either exon maintains the reading frame in either line, skipping in mutant cells likely involves nonsense-associated altered splicing alone (Exon 8), or with BES (Exon 32); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88130553T>A"	""	"pathogenic"	""
"0000831634"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Barny 2018:29771326}"	""	"c.2991+1655A>G (p.Cys998*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831635"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Barny 2018:29771326}"	""	"c.2991+1655A>G (p.Cys998*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831636"	"1"	"90"	"12"	"88524101"	"88524101"	"subst"	"4.16053E-6"	"00000"	"CEP290_000020"	"g.88524101G>A"	""	"{PMID:Barny 2018:29771326}"	""	"c.613C>T  (p.Arg205*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88130324G>A"	""	"pathogenic"	""
"0000831637"	"1"	"90"	"12"	"88481661"	"88481661"	"subst"	"0"	"00000"	"CEP290_000583"	"g.88481661C>A"	""	"{PMID:Barny 2018:29771326}"	""	"c.4090G>T (p.Glu1364*)"	"some CEP290 lacking Exon 8 were detected in mutant fibroblasts but not in controls whereas some skipping of Exon 32 occurred in both lines, but with higher amplitude in the mutant. Considering that the deletion of either exon maintains the reading frame in either line, skipping in mutant cells likely involves nonsense-associated altered splicing alone (Exon 8), or with BES (Exon 32); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88087884C>A"	""	"pathogenic"	""
"0000831833"	"1"	"90"	"12"	"88471004"	"88471004"	"subst"	"0"	"00000"	"CEP290_000390"	"g.88471004C>A"	""	"{PMID:Abdelgadir 2019:31464256}"	""	"CEP290 c.5704G>T, p.(Glu1902*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077227C>A"	""	"pathogenic"	""
"0000831834"	"1"	"90"	"12"	"88471004"	"88471004"	"subst"	"0"	"00000"	"CEP290_000390"	"g.88471004C>A"	""	"{PMID:Abdelgadir 2019:31464256}"	""	"CEP290 c.5704G>T, p.(Glu1902*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077227C>A"	""	"pathogenic"	""
"0000831835"	"1"	"90"	"12"	"88471004"	"88471004"	"subst"	"0"	"00000"	"CEP290_000390"	"g.88471004C>A"	""	"{PMID:Abdelgadir 2019:31464256}"	""	"CEP290 c.5704G>T, p.(Glu1902*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077227C>A"	""	"pathogenic"	""
"0000831955"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C998*/p.C998*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831956"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C998*/p.C998*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831957"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C998*/p.C998*"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831958"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C988*/p.C998*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831959"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C998*/p.C998*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831960"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C998*/p.C998*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831961"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.2991+1655A>G, p.C998*/p.C998*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831962"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.1936C>T, p.C998*/p.Q646*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831963"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.3310-1G>C, p.C998*/p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831964"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.4882C>T, p.C998*/p.Q1628*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831965"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.5587-1G>C, p.C998*/p. ?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831966"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.5668G>T, p.C998*/p.G1890*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831967"	"0"	"90"	"12"	"88503400"	"88503400"	""	"0"	"00000"	"CEP290_000580"	"g.88503400C="	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2291+1655A>G/c.5866G>T, p.C998*/p.E1956*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88109623C="	""	"pathogenic"	""
"0000831968"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.7341dupA, p.C998*/p.L2448Tfs*8"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831969"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.5587-1G>C, p.Cys998*/p. ?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831970"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.3811C>T, p.C998*/p.R1271*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831971"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.256delC, p.C998*/p.Q86Nfs*2"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831972"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.4723A>T, p.C998*/p.K1575*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831973"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.6964A>T, p.C998*/p.K2322*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831974"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.6964A>T, p.C998*/p.K2322*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000831975"	"0"	"70"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.5493delA/c.5587-1G>C, p.A1832Pfs*19/p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077794del"	""	"likely pathogenic"	""
"0000831976"	"1"	"70"	"12"	"88482808"	"88482808"	"subst"	"0"	"00000"	"CEP290_000555"	"g.88482808C>T"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.4029+1G>A/c.7048C>T, p. ?/p.Q2350*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88089031C>T"	""	"likely pathogenic"	""
"0000831977"	"0"	"70"	"12"	"88532930"	"88532930"	"subst"	"0"	"00000"	"CEP290_000142"	"g.88532930C>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.289G>T/c.5237G>A, p.E97*/p.R1746Q"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88139153C>A"	""	"likely pathogenic"	""
"0000831978"	"0"	"70"	"12"	"88508313"	"88508313"	"subst"	"0"	"00000"	"CEP290_000039"	"g.88508313G>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.1936C>T, p.C998*/p.Q646*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88114536G>A"	""	"likely pathogenic"	""
"0000831979"	"2"	"70"	"12"	"88486610"	"88486610"	"subst"	"0"	"00000"	"CEP290_000126"	"g.88486610C>G"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.3310-1G>C, p.C998*/p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88092833C>G"	""	"likely pathogenic"	""
"0000831980"	"0"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.4882C>T, p.C998*/p.Q1628*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000831981"	"0"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.5587-1G>C, p.C998*/p. ?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831982"	"2"	"70"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.5668G>T, p.C998*/p.G1890*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"likely pathogenic"	""
"0000831983"	"0"	"70"	"12"	"88465216"	"88465216"	"subst"	"0"	"00000"	"CEP290_000101"	"g.88465216C>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2291+1655A>G/c.5866G>T, p.C998*/p.E1956*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071439C>A"	""	"likely pathogenic"	""
"0000831984"	"0"	"70"	"12"	"88443066"	"88443066"	"dup"	"0"	"00000"	"CEP290_000111"	"g.88443066dup"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.7341dupA, p.C998*/p.L2448Tfs*8"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88049289dup"	""	"likely pathogenic"	""
"0000831985"	"2"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.5587-1G>C, p.Cys998*/p. ?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831986"	"0"	"70"	"12"	"88483027"	"88483027"	"subst"	"8.12691E-6"	"00000"	"CEP290_000058"	"g.88483027G>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.3811C>T, p.C998*/p.R1271*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88089250G>A"	""	"likely pathogenic"	""
"0000831987"	"0"	"70"	"12"	"88532963"	"88532963"	"del"	"0"	"00000"	"CEP290_000588"	"g.88532963del"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.256delC, p.C998*/p.Q86Nfs*2"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88139186del"	""	"likely pathogenic"	""
"0000831988"	"0"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.4723A>T, p.C998*/p.K1575*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000831989"	"0"	"70"	"12"	"88448187"	"88448187"	"subst"	"0"	"00000"	"CEP290_000551"	"g.88448187T>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.6964A>T, p.C998*/p.K2322*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88054410T>A"	""	"likely pathogenic"	""
"0000831990"	"2"	"70"	"12"	"88448187"	"88448187"	"subst"	"0"	"00000"	"CEP290_000551"	"g.88448187T>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.2991+1655A>G/c.6964A>T, p.C998*/p.K2322*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88054410T>A"	""	"likely pathogenic"	""
"0000831991"	"0"	"70"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00000"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.5493delA/c.5587-1G>C, p.A1832Pfs*19/p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077345C>G"	""	"likely pathogenic"	""
"0000831992"	"2"	"70"	"12"	"88447510"	"88447510"	"subst"	"0"	"00000"	"CEP290_000253"	"g.88447510G>A"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.4029+1G>A/c.7048C>T, p. ?/p.Q2350*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88053733G>A"	""	"likely pathogenic"	""
"0000831993"	"0"	"70"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"00000"	"CEP290_000189"	"g.88472996C>T"	""	"{PMID:Feldhaus 2020:31734136}"	""	"c.289G>T/c.5237G>A, p.E97*/p.R1746Q"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88079219C>T"	""	"likely pathogenic"	""
"0000831994"	"1"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	""	"{PMID:Hamed 2019:31970223}"	""	"c.6798G > A (p.[Trp2266*]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	""
"0000831995"	"2"	"50"	"12"	"88505514"	"88505514"	"subst"	"0.000202388"	"00000"	"CEP290_000584"	"g.88505514T>G"	""	"{PMID:Hamed 2019:31970223}"	""	"c.2174A > C (p.[Glu725Ala])"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88111737T>G"	""	"VUS"	""
"0000838424"	"3"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"02473"	"CEP290_000087"	"g.88471571del"	""	""	""	"g.64427_64427delA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077794del"	"56739"	"pathogenic (recessive)"	"ACMG"
"0000839889"	"3"	"50"	"12"	"88480233"	"88480233"	"subst"	"0.0022471"	"00006"	"CEP290_000330"	"g.88480233C>G"	""	"{PMID:Ozen 2017:28657829}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000844338"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844339"	"0"	"70"	"12"	"88465636"	"88465636"	"subst"	"4.22965E-6"	"00000"	"CEP290_000296"	"g.88465636C>G"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.5777G>C, p.R1926P"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071859C>G"	""	"likely pathogenic"	""
"0000844340"	"0"	"70"	"12"	"88456549"	"88456549"	"del"	"5.26848E-5"	"00000"	"CEP290_000105"	"g.88456549del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.6277delG, p.V2093SfsX4"	"single allele in a recessive disease; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88062772del"	""	"likely pathogenic"	""
"0000844341"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844342"	"0"	"70"	"12"	"88523494"	"88523494"	"subst"	"0.0137412"	"00000"	"CEP290_000022"	"g.88523494C>G"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.829G>C, p.E277Q"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88129717C>G"	""	"likely pathogenic"	""
"0000844343"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844344"	"0"	"70"	"12"	"88513984"	"88513984"	"subst"	"0"	"00000"	"CEP290_000373"	"g.88513984G>A"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.1429C>T, p.R447X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88120207G>A"	""	"likely pathogenic"	""
"0000844345"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844346"	"0"	"70"	"12"	"88487679"	"88487679"	"del"	"0"	"00000"	"CEP290_000589"	"g.88487679del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.3178delA, p.T1060LfsX5"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88093902del"	""	"likely pathogenic"	""
"0000844347"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844348"	"0"	"70"	"12"	"88478616"	"88478619"	"del"	"0"	"00000"	"CEP290_000418"	"g.88478616_88478619del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.4452_4455delAGAA, p.E1484LfsX3"	"error in annotation: this deletion causes p.Glu1484LeufsTer3 and not p.Lys1484AsnfsTer4; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88084839_88084842del"	""	"likely pathogenic"	""
"0000844349"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844350"	"0"	"70"	"12"	"88514897"	"88514897"	"del"	"0"	"00000"	"CEP290_000592"	"g.88514897del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.1236delG, p.L412X"	"error in annotation: this deletion causes p.Leu412Ter and not p.Leu413Ter; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88121120del"	""	"likely pathogenic"	""
"0000844351"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844352"	"0"	"70"	"12"	"88519147"	"88519147"	"subst"	"0"	"00000"	"CEP290_000114"	"g.88519147C>T"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.1066-1G>A, splice"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88125370C>T"	""	"likely pathogenic"	""
"0000844353"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844354"	"0"	"70"	"12"	"88508955"	"88508955"	"del"	"0"	"00000"	"CEP290_000591"	"g.88508955del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.1830delA, p.L611FfsX5"	"error in annotation: this deletion causes p.Leu611PhefsTer5 and not p.Glu610AspfsTer7; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88115178del"	""	"likely pathogenic"	""
"0000844355"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844356"	"0"	"70"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.5493delA, p.A1831PfsX19"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88077794del"	""	"likely pathogenic"	""
"0000844357"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844358"	"0"	"70"	"12"	"88465601"	"88465605"	"del"	"0"	"00000"	"CEP290_000095"	"g.88465601_88465605del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.5813_5817delCTTTA, p.T1938DfsX16"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071824_88071828del"	""	"likely pathogenic"	""
"0000844359"	"0"	"70"	"12"	"88505477"	"88505477"	"del"	"0"	"00000"	"CEP290_000590"	"g.88505477del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2213delT, p.L738X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88111700del"	""	"likely pathogenic"	""
"0000844360"	"0"	"70"	"12"	"88478632"	"88478632"	"del"	"2.61236E-5"	"00000"	"CEP290_000419"	"g.88478632del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.4438-3delC, splice"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88084855del"	""	"likely pathogenic"	""
"0000844361"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844362"	"0"	"70"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.4962_4963delAA, p.E1655NfsX3"	"error in annotation: this deletion causes p.Glu1655AsnfsTer3 and not p.Glu1656AsnfsTer3 heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083081_88083082del"	""	"likely pathogenic"	""
"0000844363"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844364"	"0"	"70"	"12"	"88476938"	"88476938"	"subst"	"7.07239E-5"	"00000"	"CEP290_000075"	"g.88476938G>A"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.4882C>T, p.Q1628X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083161G>A"	""	"likely pathogenic"	""
"0000844365"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"single allele in a recessive disease; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844366"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844367"	"0"	"70"	"12"	"88500853"	"88500854"	"del"	"0"	"00000"	"CEP290_000423"	"g.88500853_88500854del"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2505_2506delAG, p.G836IfsX2"	"error in annotation: this deletion causes p.Glu836IlefsTer2 and not p.Gly836IlefsTer2; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88107076_88107077del"	""	"likely pathogenic"	""
"0000844368"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844369"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844370"	"0"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Wiszniewski 2011:21153841}"	""	"CEP290 c.2991+1655A>G, p.C998X;WT"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"pathogenic"	""
"0000844389"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS26+1655A>G"	"no protein annotation written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000844390"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS26+1655A>G"	"no protein annotation written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000844391"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS26+1655A>G"	"no protein annotation written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000844392"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS26+1655A>G"	"no protein annotation written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000844393"	"1"	"70"	"12"	"88478632"	"88478632"	"del"	"2.61236E-5"	"00000"	"CEP290_000419"	"g.88478632del"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS34-3 del1gC"	"no protein annotation written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88084855del"	""	"likely pathogenic"	""
"0000844394"	"3"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS26+1655A>G"	"no protein annotation written, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000844395"	"1"	"90"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 IVS26+1655A>G"	"no protein annotation written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000844399"	"2"	"70"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 Gln1654 del2cAA"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88083081_88083082del"	""	"likely pathogenic"	""
"0000844400"	"2"	"70"	"12"	"88465637"	"88465637"	"subst"	"2.12172E-5"	"00000"	"CEP290_000097"	"g.88465637G>A"	""	"{PMID:Pasadhika 2010:19959640}"	""	"CEP290 Arg1926Stop"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88071860G>A"	""	"likely pathogenic"	""
"0000845824"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000845825"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000845826"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000845827"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000845828"	"1"	"70"	"12"	"88487688"	"88487688"	"dup"	"0"	"00000"	"CEP290_000055"	"g.88487688dup"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.3175_3176insA, p.I1059fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88093911dup"	""	"likely pathogenic"	""
"0000845829"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.2991+1655A>G, Splice defect"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000845835"	"2"	"70"	"12"	"88532930"	"88532930"	"subst"	"0"	"00000"	"CEP290_000142"	"g.88532930C>A"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.289G>T, p.E97X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88139153C>A"	""	"likely pathogenic"	""
"0000845836"	"2"	"70"	"12"	"88512495"	"88512495"	"del"	"0"	"00000"	"CEP290_000029"	"g.88512495del"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.1550delT, p.L517fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88118718del"	""	"likely pathogenic"	""
"0000845837"	"2"	"70"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.5493delA, p.Q1830fs"	"3\' rule shifts the annotation to p.(Ala1832Profs*19); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077794del"	""	"likely pathogenic"	""
"0000845838"	"2"	"70"	"12"	"88471571"	"88471571"	"del"	"0"	"00000"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.5493delA, p.Q1830fs"	"3\' rule shifts the annotation to p.(Ala1832Profs*19); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077794del"	""	"likely pathogenic"	""
"0000845839"	"2"	"70"	"12"	"88443066"	"88443066"	"dup"	"0"	"00000"	"CEP290_000111"	"g.88443066dup"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.7341_7342insA, p.L2448fs"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88049289dup"	""	"likely pathogenic"	""
"0000845840"	"2"	"70"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00000"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Cideciyan 2011:21245082}"	""	"CEP290 c.4723A>T, p.K1575X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083936T>A"	""	"likely pathogenic"	""
"0000845906"	"0"	"70"	"12"	"88472996"	"88472996"	"subst"	"0.0106737"	"00000"	"CEP290_000189"	"g.88472996C>T"	""	"{PMID:Kang 2016:27491411}"	""	"CEP290/NPHP6 c.5237G>A, p.Arg1746Gln"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.88079219C>T"	""	"likely pathogenic"	""
"0000845927"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Kang 2016:27491411}"	""	"CEP290/NPHP6 c.1666delA, p.Ile556Phefs*17"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000845928"	"0"	"90"	"12"	"88462434"	"88462434"	"="	"0"	"00000"	"CEP290_000151"	"g.88462434="	""	"{PMID:Kang 2016:27491411}"	""	"CEP290/NPHP6 c.6012-12A>T, alt. splicing"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.88068657="	""	"pathogenic"	""
"0000846875"	"1"	"70"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Avela 2019:31087526}"	""	"CEP290 c.1666delA"	"no protein annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88118537del"	""	"likely pathogenic"	""
"0000846927"	"2"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00000"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Avela 2019:31087526}"	""	"CEP290 c.2991+1655A>G"	"no protein annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic"	""
"0000847313"	"3"	"90"	"6"	"88477722"	"88477722"	"subst"	"0"	"00000"	"CEP290_000141"	"g.88477722C>A"	""	"{PMID:Alazami 2012:22693042}"	""	"CEP290 c.4714G>T,"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88083945C>A"	""	"pathogenic"	""
"0000847322"	"3"	"90"	"6"	"88471040"	"88471040"	"subst"	"0"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Alazami 2012:22693042}"	""	"CEP290 c.5668G>T, p.G1890X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000847323"	"3"	"90"	"6"	"88471040"	"88471040"	"subst"	"0"	"00000"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Alazami 2012:22693042}"	""	"CEP290 c.5668G>T, p.G1890X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88077263C>A"	""	"pathogenic"	""
"0000853539"	"0"	"30"	"12"	"88472911"	"88472911"	"subst"	"0.00351665"	"02326"	"CEP290_000188"	"g.88472911G>A"	""	""	""	"CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853540"	"0"	"90"	"12"	"88478545"	"88478545"	"subst"	"8.14936E-6"	"02327"	"CEP290_000286"	"g.88478545G>A"	""	""	""	"CEP290(NM_025114.3):c.4522C>T (p.R1508*), CEP290(NM_025114.4):c.4522C>T (p.R1508*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000853541"	"0"	"50"	"12"	"88486509"	"88486509"	"subst"	"3.29541E-5"	"01943"	"CEP290_000596"	"g.88486509C>T"	""	""	""	"CEP290(NM_025114.3):c.3410G>A (p.R1137Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853542"	"0"	"30"	"12"	"88510928"	"88510928"	"subst"	"0"	"01943"	"CEP290_000353"	"g.88510928T>C"	""	""	""	"CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863145"	"0"	"30"	"12"	"88449353"	"88449353"	"del"	"0"	"01804"	"CEP290_000593"	"g.88449353del"	""	""	""	"CEP290(NM_025114.3):c.6960+1del (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863146"	"0"	"50"	"12"	"88465111"	"88465111"	"subst"	"0"	"01804"	"CEP290_000594"	"g.88465111T>C"	""	""	""	"CEP290(NM_025114.3):c.5971A>G (p.(Lys1991Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863147"	"0"	"50"	"12"	"88465156"	"88465156"	"subst"	"8.16793E-6"	"01943"	"CEP290_000595"	"g.88465156C>G"	""	""	""	"CEP290(NM_025114.3):c.5926G>C (p.G1976R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863148"	"0"	"50"	"12"	"88500654"	"88500654"	"subst"	"0.000268632"	"01804"	"CEP290_000150"	"g.88500654G>A"	""	""	""	"CEP290(NM_025114.3):c.2615C>T (p.S872L, p.(Ser872Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863149"	"0"	"90"	"12"	"88502942"	"88502942"	"del"	"0"	"02327"	"CEP290_000396"	"g.88502942del"	""	""	""	"CEP290(NM_025114.3):c.2390delA (p.K797Sfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000863150"	"0"	"50"	"12"	"88505598"	"88505598"	"subst"	"0.000373692"	"01804"	"CEP290_000597"	"g.88505598G>C"	""	""	""	"CEP290(NM_025114.3):c.2090C>G (p.(Ala697Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863151"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"02327"	"CEP290_000026"	"g.88514915_88514916del"	""	""	""	"CEP290(NM_025114.3):c.1219_1220delAT (p.M407Efs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000880203"	"11"	"70"	"12"	"88465127"	"88465127"	"subst"	"0"	"00000"	"CEP290_000598"	"g.88465127T>G"	""	"{PMID:Garcia-Tizon Larroca 2017:28396767}"	""	"CEP290 p.Glu1985Asp"	"no nucleotide annotation, extrapolated from protein and databases; A>T also possible; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.88071350T>G"	""	"likely pathogenic"	""
"0000890810"	"0"	"30"	"12"	"88443015"	"88443015"	"subst"	"0"	"02330"	"CEP290_000599"	"g.88443015A>G"	""	""	""	"CEP290(NM_025114.4):c.7386T>C (p.A2462=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890811"	"0"	"30"	"12"	"88443036"	"88443036"	"subst"	"4.1159E-6"	"02326"	"CEP290_000600"	"g.88443036T>C"	""	""	""	"CEP290(NM_025114.4):c.7365A>G (p.E2455=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890812"	"0"	"50"	"12"	"88443080"	"88443080"	"subst"	"0"	"02326"	"CEP290_000601"	"g.88443080A>T"	""	""	""	"CEP290(NM_025114.4):c.7321T>A (p.L2441I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890813"	"0"	"50"	"12"	"88443125"	"88443125"	"subst"	"9.14554E-5"	"01804"	"CEP290_000161"	"g.88443125C>T"	""	""	""	"CEP290(NM_025114.3):c.7276G>A (p.(Asp2426Asn)), CEP290(NM_025114.4):c.7276G>A (p.D2426N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890814"	"0"	"30"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"02326"	"CEP290_000162"	"g.88444154C>A"	""	""	""	"CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890815"	"0"	"50"	"12"	"88448136"	"88448136"	"subst"	"0.00015246"	"01804"	"CEP290_000602"	"g.88448136G>A"	""	""	""	"CEP290(NM_025114.3):c.7015C>T (p.(Arg2339Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890816"	"0"	"30"	"12"	"88462300"	"88462300"	"subst"	"4.97606E-5"	"01804"	"CEP290_000177"	"g.88462300G>A"	""	""	""	"CEP290(NM_025114.3):c.6134C>T (p.(Ser2045Leu)), CEP290(NM_025114.4):c.6134C>T (p.S2045L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890817"	"0"	"50"	"12"	"88462409"	"88462409"	"subst"	"0"	"01804"	"CEP290_000603"	"g.88462409G>A"	""	""	""	"CEP290(NM_025114.3):c.6025C>T (p.(Leu2009Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890818"	"0"	"70"	"12"	"88465553"	"88465553"	"subst"	"0"	"02327"	"CEP290_000604"	"g.88465553C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000890819"	"0"	"30"	"12"	"88472978"	"88472978"	"subst"	"0.000551992"	"02326"	"CEP290_000321"	"g.88472978C>T"	""	""	""	"CEP290(NM_025114.4):c.5255G>A (p.R1752Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890820"	"0"	"30"	"12"	"88473986"	"88473986"	"subst"	"0.00185222"	"02326"	"CEP290_000323"	"g.88473986T>C"	""	""	""	"CEP290(NM_025114.4):c.5199A>G (p.Q1733=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890821"	"0"	"30"	"12"	"88477630"	"88477630"	"subst"	"0.000868289"	"02330"	"CEP290_000073"	"g.88477630C>T"	""	""	""	"CEP290(NM_025114.3):c.4806G>A (p.T1602=), CEP290(NM_025114.4):c.4806G>A (p.T1602=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890822"	"0"	"90"	"12"	"88483062"	"88483063"	"del"	"0"	"02326"	"CEP290_000605"	"g.88483062_88483063del"	""	""	""	"CEP290(NM_025114.4):c.3777_3778delAG (p.R1259Sfs*16)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000890823"	"0"	"10"	"12"	"88484613"	"88484613"	"subst"	"0.00168646"	"02326"	"CEP290_000337"	"g.88484613C>T"	""	""	""	"CEP290(NM_025114.4):c.3465G>A (p.L1155=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000890824"	"0"	"30"	"12"	"88510918"	"88510918"	"subst"	"0.000219974"	"02326"	"CEP290_000211"	"g.88510918T>C"	""	""	""	"CEP290(NM_025114.4):c.1716A>G (p.L572=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890825"	"0"	"70"	"12"	"88512259"	"88512259"	"subst"	"0"	"01804"	"CEP290_000606"	"g.88512259C>A"	""	""	""	"CEP290(NM_025114.3):c.1711+1G>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000890826"	"0"	"30"	"12"	"88524064"	"88524064"	"subst"	"0"	"01804"	"CEP290_000607"	"g.88524064T>C"	""	""	""	"CEP290(NM_025114.3):c.650A>G (p.(Gln217Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896442"	"0"	"90"	"12"	"88476923"	"88476923"	"subst"	"0"	"00000"	"CEP290_000506"	"g.88476923G>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.4897C>T(;)6798G>A ; p.(Gln1633Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88083146G>A"	""	"pathogenic"	""
"0000896443"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	"Taiwan Biobank: 0.002307; GnomAD_exome_East: 0.00167; GnomAD_All: 0.000133"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.4897C>T(;)6798G>A ; p.(Trp2266Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	""
"0000896464"	"0"	"90"	"12"	"88483036"	"88483036"	"subst"	"1.21885E-5"	"00000"	"CEP290_000532"	"g.88483036G>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000167; GnomAD_All: 0.000012"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.3802C>T(;)6798G>A; p.(Gln1268Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88089259G>A"	""	"pathogenic"	""
"0000896465"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	"Taiwan Biobank: 0.002307; GnomAD_exome_East: 0.00167; GnomAD_All: 0.000133"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.3802C>T(;)6798G>A; p.(Trp2266Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	""
"0000896522"	"0"	"90"	"12"	"88454772"	"88454772"	"subst"	"4.6193E-5"	"00000"	"CEP290_000576"	"g.88454772C>T"	"Taiwan Biobank: 0.000332; GnomAD_exome_East: 0.000601; GnomAD_All: 0.000045"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.[6358-1G>A];[?]; p.?"	"heterozygous; single variant in a recessive gene, no second allele found"	"Germline"	"yes"	""	"0"	""	""	"g.88060995C>T"	""	"pathogenic"	""
"0000896545"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00000"	"CEP290_000030"	"g.88512314del"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.1666del(;)6798G>A; p.(Ile556PhefsTer17)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88118537del"	""	"pathogenic"	""
"0000896546"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	"Taiwan Biobank: 0.002307; GnomAD_exome_East: 0.00167; GnomAD_All: 0.000133"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.1666del(;)6798G>A; p.(Trp2266Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	""
"0000896637"	"0"	"90"	"12"	"88452645"	"88452645"	"subst"	"0.000121937"	"00000"	"CEP290_000560"	"g.88452645C>T"	"Taiwan Biobank: 0.002307; GnomAD_exome_East: 0.00167; GnomAD_All: 0.000133"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.4962_4963del(;)6798G>A; p.(Trp2266Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88058868C>T"	""	"pathogenic"	""
"0000896638"	"0"	"90"	"12"	"88476858"	"88476859"	"del"	"0"	"00000"	"CEP290_000078"	"g.88476858_88476859del"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000284"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.4962_4963del(;)6798G>A; p.(Glu1656AsnfsTer3)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88083081_88083082del"	""	"pathogenic"	""
"0000896689"	"0"	"90"	"12"	"88443068"	"88443069"	"ins"	"0"	"00000"	"CEP290_000575"	"g.88443068_88443069insTTCTC"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.1627G>T(;)7333_7334insAGAAG; p.(Val2445GlufsTer3)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88049291_88049292insTTCTC"	""	"pathogenic"	""
"0000896690"	"0"	"90"	"12"	"88512344"	"88512344"	"subst"	"8.87973E-6"	"00000"	"CEP290_000577"	"g.88512344C>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000122; GnomAD_All: 0.00000878"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.1627G>T(;)7333_7334insAGAAG; p.(Glu543Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88118567C>A"	""	"pathogenic"	""
"0000896731"	"0"	"90"	"12"	"88454772"	"88454772"	"subst"	"4.6193E-5"	"00000"	"CEP290_000576"	"g.88454772C>T"	"Taiwan Biobank: 0.000332; GnomAD_exome_East: 0.000601; GnomAD_All: 0.000045"	"{PMID:Chen 2021:33608557}"	""	"CEP290 c.[6358-1G>A];[?]; p.?"	"heterozygous; single variant in a recessive gene, no second allele found"	"Germline"	"yes"	""	"0"	""	""	"g.88060995C>T"	""	"pathogenic"	""
"0000905925"	"0"	"90"	"12"	"88510853"	"88510853"	"subst"	"2.26626E-5"	"00000"	"CEP290_000156"	"g.88510853A>T"	""	"{PMID:Zhu 2022:35456422}"	""	"CEP290 c.1781T>A, p.(Leu594*)"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88117076A>T"	""	"pathogenic"	"ACMG"
"0000905926"	"0"	"50"	"12"	"88496718"	"88496718"	"subst"	"0"	"00000"	"CEP290_000608"	"g.88496718T>C"	""	"{PMID:Zhu 2022:35456422}"	""	"CEP290 c.2888A>G, p.(Glu963Gly)"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88102941T>C"	""	"VUS"	"ACMG"
"0000905927"	"0"	"90"	"12"	"88510853"	"88510853"	"subst"	"2.26626E-5"	"00000"	"CEP290_000156"	"g.88510853A>T"	""	"{PMID:Zhu 2022:35456422}"	""	"CEP290 c.1781T>A, p.(Leu594*)"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88117076A>T"	""	"pathogenic"	"ACMG"
"0000905928"	"0"	"50"	"12"	"88496718"	"88496718"	"subst"	"0"	"00000"	"CEP290_000608"	"g.88496718T>C"	""	"{PMID:Zhu 2022:35456422}"	""	"CEP290 c.2888A>G, p.(Glu963Gly)"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88102941T>C"	""	"VUS"	"ACMG"
"0000905963"	"0"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00000"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Zhu 2022:35456422}"	""	"CEP290 c.1219_1220del, p.(Met407Glufs*14)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic"	"ACMG"
"0000913962"	"0"	"30"	"12"	"88457911"	"88457911"	"subst"	"0.00040645"	"02326"	"CEP290_000311"	"g.88457911A>C"	""	""	""	"CEP290(NM_025114.4):c.6136-19T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913963"	"0"	"30"	"12"	"88477749"	"88477749"	"subst"	"0.000489595"	"02326"	"CEP290_000610"	"g.88477749G>A"	""	""	""	"CEP290(NM_025114.4):c.4705-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915811"	"1"	"90"	"12"	"88465150"	"88465150"	"subst"	"1.22652E-5"	"04436"	"CEP290_000099"	"g.88465150G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.5932C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915812"	"2"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"04436"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000915877"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"04436"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000915878"	"2"	"90"	"12"	"88487681"	"88487681"	"dup"	"4.617E-5"	"04436"	"CEP290_000055"	"g.88487681dup"	""	"{PMID:Panneman 2023:36819107}"	""	"c.3175dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915961"	"1"	"90"	"12"	"88530474"	"88530477"	"del"	"5.68935E-5"	"04436"	"CEP290_000019"	"g.88530474_88530477del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.384_387del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915962"	"2"	"90"	"12"	"88448120"	"88448120"	"subst"	"0"	"04436"	"CEP290_000609"	"g.88448120A>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[7031T>A;7034_7034+8del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915963"	"2"	"90"	"12"	"88448109"	"88448117"	"del"	"0"	"04436"	"CEP290_000609"	"g.88448109_88448117del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[7031T>A;7034_7034+8del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916054"	"3"	"50"	"12"	"88496727"	"88496727"	"subst"	"0"	"04436"	"CEP290_000612"	"g.88496727G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2879C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916129"	"1"	"50"	"12"	"88519053"	"88519053"	"subst"	"0"	"04436"	"CEP290_000613"	"g.88519053C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1159G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916130"	"2"	"90"	"12"	"88462403"	"88462403"	"subst"	"0"	"04436"	"CEP290_000103"	"g.88462403G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.6031C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916300"	"1"	"90"	"12"	"88471059"	"88471059"	"dup"	"0"	"04436"	"CEP290_000091"	"g.88471059dup"	""	"{PMID:Panneman 2023:36819107}"	""	"c.5649dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916301"	"2"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"04436"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916417"	"3"	"90"	"12"	"88512305"	"88512305"	"del"	"0.00174928"	"04436"	"CEP290_000030"	"g.88512305del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1666del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916474"	"1"	"90"	"12"	"88512419"	"88512419"	"subst"	"0"	"04436"	"CEP290_000467"	"g.88512419C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1623+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916475"	"2"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"04436"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916533"	"1"	"90"	"12"	"88524330"	"88524330"	"subst"	"1.37501E-5"	"04436"	"CEP290_000430"	"g.88524330T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.508A>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916534"	"2"	"50"	"12"	"88514835"	"88514835"	"subst"	"0.00131747"	"04436"	"CEP290_000224"	"g.88514835T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1298A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916603"	"1"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"04436"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2991+1655A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916604"	"2"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"04436"	"CEP290_000088"	"g.88471040C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.5668G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916630"	"1"	"70"	"12"	"88481657"	"88481657"	"subst"	"0"	"04436"	"CEP290_000611"	"g.88481657A>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.4094T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916631"	"2"	"70"	"12"	"88478632"	"88478632"	"del"	"2.61236E-5"	"04436"	"CEP290_000419"	"g.88478632del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.4438-3del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000925705"	"0"	"50"	"12"	"88465588"	"88465588"	"subst"	"0"	"01804"	"CEP290_000614"	"g.88465588T>C"	""	""	""	"CEP290(NM_025114.3):c.5825A>G (p.(Gln1942Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925706"	"0"	"30"	"12"	"88522719"	"88522719"	"subst"	"0"	"01804"	"CEP290_000615"	"g.88522719A>T"	""	""	""	"CEP290(NM_025114.3):c.942+4T>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930157"	"0"	"50"	"12"	"88443061"	"88443061"	"subst"	"6.58209E-5"	"02325"	"CEP290_000616"	"g.88443061T>G"	""	""	""	"CEP290(NM_025114.4):c.7340A>C (p.K2447T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930158"	"0"	"30"	"12"	"88444154"	"88444154"	"subst"	"0.00113687"	"01804"	"CEP290_000162"	"g.88444154C>A"	""	""	""	"CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930159"	"0"	"30"	"12"	"88457793"	"88457793"	"subst"	"0"	"01804"	"CEP290_000308"	"g.88457793G>T"	""	""	""	"CEP290(NM_025114.3):c.6235C>A (p.L2079I, p.(Leu2079Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930160"	"0"	"50"	"12"	"88462336"	"88462336"	"subst"	"4.40859E-6"	"01804"	"CEP290_000312"	"g.88462336T>C"	""	""	""	"CEP290(NM_025114.3):c.6098A>G (p.E2033G, p.(Glu2033Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930161"	"0"	"50"	"12"	"88477682"	"88477682"	"subst"	"0.00013673"	"02325"	"CEP290_000328"	"g.88477682T>C"	""	""	""	"CEP290(NM_025114.3):c.4754A>G (p.H1585R), CEP290(NM_025114.4):c.4754A>G (p.(His1585Arg), p.H1585R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930162"	"0"	"50"	"12"	"88482810"	"88482810"	"subst"	"0"	"02327"	"CEP290_000617"	"g.88482810T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000933617"	"0"	"90"	"12"	"88478416"	"88478416"	"subst"	"8.13703E-6"	"04552"	"CEP290_000618"	"g.88478416G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV:1403957}"	"pathogenic"	"ACMG"
"0000933806"	"0"	"90"	"12"	"88496614"	"88512521"	"dup"	"0"	"04552"	"CEP290_000619"	"g.(88490777_88496614)_(88512521_88513890)dup"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"gain ex16-26"	""	"Germline"	"yes"	""	"0"	""	""	"g.(88097000_88102837)_(88118744_88120113)dup"	""	"pathogenic"	"ACMG"
"0000933807"	"0"	"90"	"12"	"88478416"	"88478416"	"subst"	"8.13703E-6"	"04552"	"CEP290_000618"	"g.88478416G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88084639G>A"	"{CV:1403957}"	"pathogenic"	"ACMG"
"0000950038"	"0"	"30"	"12"	"88442191"	"88442191"	"subst"	"0.000764024"	"01804"	"CEP290_000620"	"g.88442191G>C"	""	""	""	"C12orf29(NM_001009894.2):c.970G>C (p.(Asp324His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950039"	"0"	"50"	"12"	"88482862"	"88482862"	"subst"	"6.37735E-5"	"01804"	"CEP290_000332"	"g.88482862T>C"	""	""	""	"CEP290(NM_025114.3):c.3976A>G (p.(Lys1326Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000950040"	"0"	"50"	"12"	"88483212"	"88483212"	"subst"	"1.35314E-5"	"01804"	"CEP290_000621"	"g.88483212G>C"	""	""	""	"CEP290(NM_025114.3):c.3626C>G (p.(Ser1209Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000950041"	"0"	"30"	"12"	"88510928"	"88510928"	"subst"	"0"	"02326"	"CEP290_000353"	"g.88510928T>C"	""	""	""	"CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950042"	"0"	"30"	"12"	"88510942"	"88510942"	"subst"	"0"	"02330"	"CEP290_000622"	"g.88510942C>A"	""	""	""	"CEP290(NM_025114.4):c.1712-20G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950043"	"0"	"30"	"12"	"88533262"	"88533262"	"subst"	"0"	"02330"	"CEP290_000623"	"g.88533262A>G"	""	""	""	"CEP290(NM_025114.4):c.250+10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950044"	"0"	"50"	"12"	"88533296"	"88533296"	"subst"	"0.000622755"	"01804"	"CEP290_000276"	"g.88533296C>T"	""	""	""	"CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000951806"	"21"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00006"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Baala 2007:17564974}"	""	"384_387delTAGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic (recessive)"	""
"0000951807"	"21"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00006"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Baala 2007:17564974}"	""	"384_387delTAGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic (recessive)"	""
"0000951808"	"11"	"90"	"12"	"88534731"	"88534731"	"subst"	"0"	"00006"	"CEP290_000131"	"g.88534731A>T"	""	"{PMID:Baala 2007:17564974}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88140954A>T"	""	"pathogenic (recessive)"	""
"0000951809"	"3"	"90"	"12"	"88530477"	"88530480"	"del"	"0"	"00006"	"CEP290_000019"	"g.88530477_88530480del"	""	"{PMID:Baala 2007:17564974}"	""	"384_387delTAGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88136700_88136703del"	""	"pathogenic (recessive)"	""
"0000951810"	"3"	"90"	"12"	"88524101"	"88524101"	"subst"	"4.16053E-6"	"00006"	"CEP290_000020"	"g.88524101G>A"	""	"{PMID:Baala 2007:17564974}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88130324G>A"	""	"pathogenic (recessive)"	""
"0000951811"	"21"	"90"	"12"	"88481636"	"88481637"	"del"	"0"	"00006"	"CEP290_000065"	"g.88481636_88481637del"	""	"{PMID:Baala 2007:17564974}"	""	"4115_4116delTA"	""	"Germline"	""	""	"0"	""	""	"g.88087859_88087860del"	""	"pathogenic (recessive)"	""
"0000951812"	"2"	"90"	"12"	"88508924"	"88508925"	"del"	"0"	"00006"	"CEP290_000035"	"g.88508924_88508925del"	""	"{PMID:Baala 2007:17564974}"	""	"1860_1861delAA"	""	"Germline"	""	""	"0"	""	""	"g.88115147_88115148del"	""	"pathogenic (recessive)"	""
"0000951813"	"21"	"90"	"12"	"88483045"	"88483045"	"subst"	"0"	"00006"	"CEP290_000062"	"g.88483045G>A"	""	"{PMID:Baala 2007:17564974}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88089268G>A"	""	"pathogenic (recessive)"	""
"0000951814"	"11"	"90"	"12"	"88487753"	"88487753"	"subst"	"0"	"00006"	"CEP290_000124"	"g.88487753C>T"	""	"{PMID:Baala 2007:17564974}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88093976C>T"	""	"pathogenic (recessive)"	""
"0000951815"	"11"	"90"	"12"	"88465567"	"88465567"	"del"	"0"	"00006"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Baala 2007:17564974}"	""	"5850delT"	""	"Germline"	""	""	"0"	""	""	"g.88071790del"	""	"pathogenic (recessive)"	""
"0000951818"	"3"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00006"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Tallila 2008:19466712}"	""	"1219_1220delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic (recessive)"	""
"0000951819"	"1"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00006"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Tallila 2008:19466712}"	""	"1219_1220delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic (recessive)"	""
"0000951820"	"2"	"90"	"12"	"88465567"	"88465567"	"del"	"0"	"00006"	"CEP290_000092"	"g.88465567del"	""	"{PMID:Tallila 2008:19466712}"	""	"5850delT"	""	"Germline"	""	""	"0"	""	""	"g.88071790del"	""	"pathogenic (recessive)"	""
"0000951821"	"1"	"90"	"12"	"88532930"	"88532930"	"subst"	"0"	"00006"	"CEP290_000142"	"g.88532930C>A"	""	"{PMID:Tallila 2008:19466712}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88139153C>A"	""	"pathogenic (recessive)"	""
"0000951822"	"2"	"90"	"12"	"88508265"	"88508265"	"subst"	"5.30138E-5"	"00006"	"CEP290_000040"	"g.88508265G>A"	""	"{PMID:Tallila 2008:19466712}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88114488G>A"	""	"pathogenic (recessive)"	""
"0000951823"	"1"	"90"	"12"	"88486474"	"88486475"	"del"	"0"	"00006"	"CEP290_000146"	"g.88486474_88486475del"	""	"{PMID:Tallila 2008:19466712}"	""	"3446_3447delAA"	""	"Germline"	""	""	"0"	""	""	"g.88092697_88092698del"	""	"pathogenic (recessive)"	""
"0000951824"	"2"	"90"	"12"	"88514915"	"88514916"	"del"	"0"	"00006"	"CEP290_000026"	"g.88514915_88514916del"	""	"{PMID:Tallila 2008:19466712}"	""	"1219_1220delAT"	""	"Germline"	""	""	"0"	""	""	"g.88121138_88121139del"	""	"pathogenic (recessive)"	""
"0000951872"	"3"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"00006"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Frank 2008:17705300}"	""	"5489delA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077794del"	""	"pathogenic (recessive)"	""
"0000951874"	"3"	"90"	"12"	"88471571"	"88471571"	"del"	"0"	"00006"	"CEP290_000087"	"g.88471571del"	""	"{PMID:Frank 2008:17705300}"	""	"5489delA"	""	"Germline"	"yes"	""	"0"	""	""	"g.88077794del"	""	"pathogenic (recessive)"	""
"0000957955"	"0"	"70"	"12"	"88532970"	"88532970"	"subst"	"0"	"03779"	"CEP290_000627"	"g.88532970T>A"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000958035"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5_STRONG, BP7"	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	"1337"	"likely pathogenic (recessive)"	"ACMG"
"0000958048"	"0"	"90"	"12"	"88512314"	"88512314"	"del"	"0"	"00006"	"CEP290_000030"	"g.88512314del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PVS1, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.88118537del"	""	"pathogenic (recessive)"	"ACMG"
"0000958061"	"3"	"90"	"12"	"88454678"	"88454685"	"del"	"0"	"00006"	"CEP290_000624"	"g.88454678_88454685del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88060901_88060908del"	""	"pathogenic (recessive)"	"ACMG"
"0000958205"	"0"	"70"	"12"	"88502219"	"88503792"	"del"	"0"	"00006"	"CEP290_000626"	"g.88502219_88503792del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.88108442_88110015del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958206"	"0"	"90"	"12"	"88481592"	"88481592"	"dup"	"0"	"00006"	"CEP290_000625"	"g.88481592dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88087815dup"	"448961"	"pathogenic (recessive)"	"ACMG"
"0000958343"	"3"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00006"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_STRONG, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.88077345C>G"	""	"pathogenic (recessive)"	"ACMG"
"0000958408"	"0"	"90"	"12"	"88512262"	"88512262"	"subst"	"0"	"00006"	"CEP290_000032"	"g.88512262G>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88118485G>C"	""	"pathogenic (recessive)"	"ACMG"
"0000958432"	"0"	"90"	"12"	"88465673"	"88465673"	"subst"	"0"	"00006"	"CEP290_000389"	"g.88465673C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88071896C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000958442"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5_STRONG, BP7"	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	"1337"	"likely pathogenic (recessive)"	"ACMG"
"0000958550"	"0"	"70"	"12"	"88494960"	"88494960"	"subst"	"0"	"00006"	"CEP290_000002"	"g.88494960T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5_STRONG, BP7"	"Germline"	""	""	"0"	""	""	"g.88101183T>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958551"	"0"	"70"	"12"	"88478410"	"88478412"	"del"	"0"	"00006"	"CEP290_000068"	"g.88478410_88478412del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM4, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.88084633_88084635del"	"982524"	"likely pathogenic (recessive)"	"ACMG"
"0000958873"	"0"	"90"	"12"	"88478616"	"88478619"	"del"	"0"	"00006"	"CEP290_000418"	"g.88478616_88478619del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88084839_88084842del"	""	"pathogenic (recessive)"	"ACMG"
"0000959062"	"0"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"00006"	"CEP290_000133"	"g.88471122C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_STRONG, PP5_STRONG; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.88077345C>G"	""	"pathogenic (recessive)"	"ACMG"
"0000959314"	"0"	"50"	"12"	"88502912"	"88502912"	"subst"	"6.47509E-6"	"00006"	"CEP290_000425"	"g.88502912A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BP4"	"Germline"	""	""	"0"	""	""	"g.88109135A>G"	""	"VUS"	"ACMG"
"0000959388"	"0"	"90"	"12"	"88519134"	"88519134"	"subst"	"0"	"00006"	"CEP290_000447"	"g.88519134G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.88125357G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000967099"	"0"	"30"	"12"	"88454677"	"88454677"	"subst"	"0.000326947"	"02330"	"CEP290_000628"	"g.88454677A>G"	""	""	""	"CEP290(NM_025114.4):c.6452T>C (p.L2151S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967101"	"0"	"30"	"12"	"88477749"	"88477749"	"subst"	"0.000489595"	"02330"	"CEP290_000610"	"g.88477749G>A"	""	""	""	"CEP290(NM_025114.4):c.4705-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967102"	"0"	"50"	"12"	"88496626"	"88496626"	"subst"	"0.00173842"	"02325"	"CEP290_000341"	"g.88496626C>T"	""	""	""	"CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000967103"	"0"	"30"	"12"	"88500489"	"88500489"	"subst"	"8.23784E-6"	"01804"	"CEP290_000629"	"g.88500489T>C"	""	""	""	"CEP290(NM_025114.3):c.2780A>G (p.(Glu927Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967106"	"0"	"30"	"12"	"88530520"	"88530520"	"subst"	"0.000162688"	"02326"	"CEP290_000244"	"g.88530520C>T"	""	""	""	"CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000980495"	"0"	"90"	"12"	"88471040"	"88471040"	"subst"	"9.58901E-5"	"01804"	"CEP290_000088"	"g.88471040C>A"	""	""	""	"CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000980496"	"0"	"50"	"12"	"88477682"	"88477682"	"subst"	"0.00013673"	"01804"	"CEP290_000328"	"g.88477682T>C"	""	""	""	"CEP290(NM_025114.3):c.4754A>G (p.H1585R), CEP290(NM_025114.4):c.4754A>G (p.(His1585Arg), p.H1585R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980497"	"0"	"50"	"12"	"88483012"	"88483012"	"subst"	"1.62674E-5"	"01804"	"CEP290_000334"	"g.88483012C>T"	""	""	""	"CEP290(NM_025114.3):c.3826G>A (p.G1276R), CEP290(NM_025114.4):c.3826G>A (p.(Gly1276Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980498"	"0"	"50"	"12"	"88524191"	"88524191"	"subst"	"0.000186935"	"01804"	"CEP290_000234"	"g.88524191G>T"	""	""	""	"CEP290(NM_025114.3):c.523C>A (p.Q175K), CEP290(NM_025114.4):c.523C>A (p.(Gln175Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000985481"	"21"	"90"	"12"	"88449451"	"88449451"	"del"	"0"	"02230"	"CEP290_000109"	"g.88449451del"	""	"{PMID:Zeuli 2024:38816995}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88055674del"	"VCV000654872.8"	"pathogenic (recessive)"	""
"0000985482"	"21"	"70"	"12"	"88453721"	"88453721"	"del"	"0"	"02230"	"CEP290_000106"	"g.88453721del"	""	"{PMID:Zeuli 2024:38816995}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88059944del"	"VCV000197597.15"	"likely pathogenic (recessive)"	""
"0000985492"	"11"	"90"	"12"	"88458328"	"88458328"	"subst"	"0"	"02230"	"CEP290_000630"	"g.88458328T>C"	""	"{PMID:Zeuli 2024:38816995}, {PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88064551T>C"	""	"pathogenic (recessive)"	""
"0000985493"	"11"	"90"	"12"	"88458328"	"88458328"	"subst"	"0"	"02230"	"CEP290_000630"	"g.88458328T>C"	""	"{PMID:Zeuli 2024:38816995}, {PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88064551T>C"	""	"pathogenic (recessive)"	""
"0001000353"	"0"	"30"	"12"	"88443008"	"88443009"	"del"	"0"	"02326"	"CEP290_000299"	"g.88443008_88443009del"	""	""	""	"CEP290(NM_025114.3):c.7394_7395del (p.(Glu2465ValfsTer2)), CEP290(NM_025114.4):c.7394_7395delAG (p.E2465Vfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000354"	"0"	"50"	"12"	"88443133"	"88443133"	"subst"	"0"	"01804"	"CEP290_000631"	"g.88443133T>C"	""	""	""	"CEP290(NM_025114.3):c.7268A>G (p.(Glu2423Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000355"	"0"	"30"	"12"	"88462318"	"88462318"	"subst"	"0.000307421"	"01804"	"CEP290_000178"	"g.88462318T>C"	""	""	""	"CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000356"	"0"	"30"	"12"	"88472911"	"88472911"	"subst"	"0.00351665"	"01804"	"CEP290_000188"	"g.88472911G>A"	""	""	""	"CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000357"	"0"	"90"	"12"	"88479860"	"88479860"	"subst"	"2.03797E-5"	"01804"	"CEP290_000066"	"g.88479860G>A"	""	""	""	"CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001000358"	"0"	"50"	"12"	"88505029"	"88505029"	"subst"	"0"	"01804"	"CEP290_000632"	"g.88505029T>A"	""	""	""	"CEP290(NM_025114.3):c.2317A>T (p.(Ser773Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000359"	"0"	"50"	"12"	"88505067"	"88505067"	"subst"	"0"	"01804"	"CEP290_000528"	"g.88505067A>G"	""	""	""	"CEP290(NM_025114.3):c.2279T>C (p.F760S, p.(Phe760Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000360"	"0"	"90"	"12"	"88524986"	"88524986"	"subst"	"0"	"01804"	"CEP290_000001"	"g.88524986G>A"	""	""	""	"CEP290(NM_025114.3):c.451C>T (p.R151*, p.(Arg151*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001015020"	"0"	"90"	"12"	"88471122"	"88471122"	"subst"	"1.43986E-5"	"02329"	"CEP290_000133"	"g.88471122C>G"	""	""	""	"CEP290(NM_025114.4):c.5587-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001022194"	"0"	"70"	"12"	"88465553"	"88465553"	"subst"	"0"	"04796"	"CEP290_000604"	"g.88465553C>T"	""	""	""	""	"effect on RNA exclusion of exon"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.88071776C>T"	""	"likely pathogenic"	""
"0001022261"	"3"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00006"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs137852834"	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0001022307"	"1"	"90"	"12"	"88477713"	"88477713"	"subst"	"6.07045E-5"	"00006"	"CEP290_000070"	"g.88477713T>A"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	"rs137852834"	"0"	""	""	"g.88083936T>A"	""	"pathogenic"	""
"0001022351"	"2"	"90"	"12"	"88457876"	"88457876"	"subst"	"0"	"00006"	"CEP290_000633"	"g.88457876G>C"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88064099G>C"	""	"pathogenic"	""
"0001026237"	"0"	"50"	"12"	"88519133"	"88519133"	"subst"	"0.00534552"	"01943"	"CEP290_000149"	"g.88519133C>T"	""	""	""	"CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001027553"	"1"	"90"	"12"	"88454728"	"88454728"	"subst"	"0.00746961"	"00006"	"CEP290_000175"	"g.88454728A>G"	""	"{PMID:Boissel 2017:29261186}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88060951A>G"	""	"pathogenic (recessive)"	""
"0001027571"	"2"	"90"	"12"	"88480276"	"88480276"	"subst"	"5.08326E-6"	"00006"	"CEP290_000128"	"g.88480276C>T"	""	"{PMID:Boissel 2017:29261186}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88086499C>T"	""	"pathogenic (recessive)"	""
"0001039495"	"0"	"50"	"12"	"88443094"	"88443096"	"del"	"0"	"01804"	"CEP290_000113"	"g.88443094_88443096del"	""	""	""	"CEP290(NM_025114.4):c.7311_7313del (p.(Lys2437del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039496"	"0"	"50"	"12"	"88443126"	"88443126"	"subst"	"0"	"01804"	"CEP290_000635"	"g.88443126T>G"	""	""	""	"CEP290(NM_025114.4):c.7275A>C (p.(Glu2425Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039497"	"0"	"30"	"12"	"88447488"	"88447488"	"subst"	"2.34486E-5"	"01804"	"CEP290_000304"	"g.88447488T>C"	""	""	""	"CEP290(NM_025114.3):c.7070A>G (p.E2357G), CEP290(NM_025114.4):c.7070A>G (p.(Glu2357Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039498"	"0"	"90"	"12"	"88465601"	"88465605"	"del"	"0"	"01804"	"CEP290_000095"	"g.88465601_88465605del"	""	""	""	"CEP290(NM_025114.4):c.5813_5817del (p.(Thr1938Asnfs*16))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001039499"	"0"	"50"	"12"	"88480176"	"88480176"	"subst"	"0"	"01804"	"CEP290_000636"	"g.88480176C>T"	""	""	""	"CEP290(NM_025114.4):c.4294G>A (p.(Ala1432Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039500"	"0"	"50"	"12"	"88484533"	"88484533"	"subst"	"0"	"01804"	"CEP290_000637"	"g.88484533G>C"	""	""	""	"CEP290(NM_025114.4):c.3545C>G (p.(Ser1182Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039501"	"0"	"70"	"12"	"88484537"	"88484537"	"subst"	"0"	"01804"	"CEP290_000638"	"g.88484537C>A"	""	""	""	"CEP290(NM_025114.4):c.3541G>T (p.(Glu1181*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001039502"	"0"	"30"	"12"	"88500575"	"88500575"	"subst"	"0"	"01804"	"CEP290_000639"	"g.88500575C>T"	""	""	""	"CEP290(NM_025114.4):c.2694G>A (p.(Arg898=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039503"	"0"	"70"	"12"	"88514053"	"88514053"	"subst"	"0"	"01804"	"CEP290_000640"	"g.88514053C>A"	""	""	""	"CEP290(NM_025114.4):c.1360G>T (p.(Gly454*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001044567"	"1"	"90"	"12"	"88471064"	"88471064"	"dup"	"0"	"00006"	"CEP290_000091"	"g.88471064dup"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88077287dup"	""	"pathogenic (recessive)"	""
"0001044568"	"2"	"30"	"12"	"88444370"	"88444370"	"subst"	"0"	"00006"	"CEP290_000634"	"g.88444370A>C"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"analysis RNA and in vitro mini-gene splicing assay failed to show effect on RNA"	"Germline"	""	""	"0"	""	""	"g.88050593A>C"	""	"VUS"	""
"0001048425"	"21"	"90"	"12"	"88512314"	"88512314"	"dup"	"0"	"02473"	"CEP290_000354"	"g.88512314dup"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.88118537dup"	""	"pathogenic (recessive)"	"ACMG"
"0001048426"	"11"	"90"	"12"	"88456563"	"88456563"	"subst"	"1.14261E-5"	"02473"	"CEP290_000136"	"g.88456563A>C"	""	""	""	""	"we have RT-PCT eveidence of a 7 bp inclusion following this splice site variant - an additoanl 7 base pairs of intron 46 are inserted immediately before exon 46 to lead to a frameshift"	"Germline"	"yes"	""	"0"	""	""	"g.88062786A>C"	""	"likely pathogenic"	"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 CEP290
## Count = 1834
"{{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}}"
"0000000272"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000016604"	"00000021"	"70"	"180"	"2"	"180"	"2"	"c.180+2T>A"	"r.spl"	"p.?"	"3i"
"0000016605"	"00000021"	"99"	"289"	"0"	"289"	"0"	"c.289G>T"	"r.(289g>u)"	"p.(Glu97*)"	"5"
"0000016606"	"00000021"	"99"	"381"	"0"	"382"	"0"	"c.381_382delinsT"	"r.(381_382delinsu)"	"p.(Lys127Asnfs*36)"	"6"
"0000016607"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(384_387del)"	"p.(Asp128Glufs*34)"	"6"
"0000016608"	"00000021"	"90"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(613c>u)"	"p.(Arg205*)"	"9"
"0000016609"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(1219_1220del)"	"p.(Met407Glufs*14)"	"14"
"0000016610"	"00000021"	"99"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.(1451del)"	"p.(Tyr484Leufs*27)"	"15"
"0000016611"	"00000021"	"90"	"1860"	"0"	"1861"	"0"	"c.1860_1861del"	"r.(1860_1861del)"	"p.(Asp622Phefs*5)"	"19"
"0000016612"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(1984c>u)"	"p.(Gln662*)"	"20"
"0000016613"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175del"	"r.(3175del)"	"p.(Ile1059*)"	"28"
"0000016614"	"00000021"	"90"	"3446"	"0"	"3447"	"0"	"c.3446_3447del"	"r.(3446_3447delaa)"	"p.(Lys1149Serfs*2)"	"29"
"0000016615"	"00000021"	"90"	"4115"	"0"	"4116"	"0"	"c.4115_4116del"	"r.(4115_4116del)"	"p.(Ile1372Lysfs*5)"	"32"
"0000016616"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(5493del)"	"p.(Ala1832Profs*19)"	"40"
"0000016617"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(5850del)"	"p.(Phe1950Leufs*15)"	"42"
"0000052263"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000052395"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	"28"
"0000059618"	"00000021"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151*)"	"7"
"0000059619"	"00000021"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151*)"	"7"
"0000059620"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998*)"	"26i"
"0000059621"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998*)"	"26i"
"0000059622"	"00000021"	"90"	"2"	"0"	"2"	"0"	"c.2T>A"	"r.(?)"	"p.0?"	"2"
"0000059623"	"00000021"	"90"	"2"	"0"	"2"	"0"	"c.2T>A"	"r.(?)"	"p.0?"	"2"
"0000059624"	"00000021"	"90"	"1593"	"0"	"1593"	"0"	"c.1593C>A"	"r.(?)"	"p.(Tyr531*)"	"16"
"0000059625"	"00000021"	"90"	"1593"	"0"	"1593"	"0"	"c.1593C>A"	"r.(?)"	"p.(Tyr531*)"	"16"
"0000059626"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	"2"
"0000059627"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	"2"
"0000059628"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	"2"
"0000059629"	"00000021"	"10"	"1825"	"-13"	"1825"	"-12"	"c.1825-13_1825-12del"	"r.(spl?)"	"p.(=)"	"18i"
"0000059630"	"00000021"	"70"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	"20"
"0000059631"	"00000021"	"50"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	"20"
"0000059632"	"00000021"	"90"	"3559"	"0"	"3559"	"0"	"c.3559del"	"r.(?)"	"p.(Leu1187Cysfs*2)"	"30"
"0000059633"	"00000021"	"90"	"4705"	"-1"	"4705"	"-1"	"c.4705-1G>T"	"r.spl"	"p.?"	"35i"
"0000059634"	"00000021"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	"2"
"0000059635"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	"2"
"0000059636"	"00000021"	"90"	"164"	"0"	"167"	"0"	"c.164_167del"	"r.(?)"	"p.(Thr55Serfs*3)"	"3"
"0000059637"	"00000021"	"90"	"265"	"0"	"265"	"0"	"c.265dup"	"r.(?)"	"p.(Thr89Asnfs*2)"	"5"
"0000059638"	"00000021"	"90"	"287"	"0"	"287"	"0"	"c.287del"	"r.(?)"	"p.(Asn96Metfs*29)"	"5"
"0000059639"	"00000021"	"90"	"437"	"0"	"437"	"0"	"c.437del"	"r.(?)"	"p.(Glu146Glyfs*17)"	"6"
"0000059640"	"00000021"	"90"	"384"	"0"	"385"	"0"	"c.384_385del"	"r.(?)"	"p.(Asp128Glufs*17)"	"6"
"0000059641"	"00000021"	"90"	"381"	"0"	"382"	"0"	"c.381_382delinsT"	"r.(?)"	"p.(Lys127Asnfs*36)"	"6"
"0000059642"	"00000021"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	"6"
"0000059643"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	"6"
"0000059644"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	"6"
"0000059646"	"00000021"	"90"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(?)"	"p.(Arg205*)"	"9"
"0000059647"	"00000021"	"90"	"566"	"0"	"566"	"0"	"c.566C>G"	"r.(?)"	"p.(Ser189*)"	"9"
"0000059648"	"00000021"	"10"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	"10"
"0000059649"	"00000021"	"90"	"679"	"0"	"680"	"0"	"c.679_680del"	"r.(?)"	"p.(Glu227Serfs*2)"	"10"
"0000059650"	"00000021"	"50"	"930"	"0"	"930"	"0"	"c.930A>G"	"r.(?)"	"p.(=)"	"11"
"0000059651"	"00000021"	"90"	"1260"	"0"	"1264"	"0"	"c.1260_1264del"	"r.(?)"	"p.(Lys421Glyfs*2)"	"14"
"0000059652"	"00000021"	"90"	"1260"	"0"	"1264"	"0"	"c.1260_1264del"	"r.(?)"	"p.(Lys421Glyfs*2)"	"14"
"0000059653"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	"14"
"0000059654"	"00000021"	"90"	"1419"	"0"	"1423"	"0"	"c.1419_1423del"	"r.(?)"	"p.(Ile474Argfs*5)"	"15"
"0000059655"	"00000021"	"90"	"1361"	"0"	"1361"	"0"	"c.1361del"	"r.(?)"	"p.(Gly454Glufs*5)"	"15"
"0000059656"	"00000021"	"90"	"1550"	"0"	"1550"	"0"	"c.1550del"	"r.(?)"	"p.(Leu517*)"	"16"
"0000059657"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000059658"	"00000021"	"90"	"1682"	"0"	"1683"	"0"	"c.1682_1683del"	"r.(?)"	"p.(Gln561Argfs*14)"	"17"
"0000059659"	"00000021"	"90"	"1709"	"0"	"1709"	"0"	"c.1709C>G"	"r.(?)"	"p.(Ser570*)"	"17"
"0000059660"	"00000021"	"90"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549*)"	"17"
"0000059661"	"00000021"	"90"	"1824"	"0"	"1824"	"0"	"c.1824G>A"	"r.(?)"	"p.(=)"	"18"
"0000059662"	"00000021"	"90"	"1860"	"0"	"1861"	"0"	"c.1860_1861del"	"r.(?)"	"p.(Asp622Phefs*5)"	"19"
"0000059663"	"00000021"	"90"	"1860"	"0"	"1863"	"0"	"c.1860_1863del"	"r.(?)"	"p.(Arg621Ilefs*2)"	"19"
"0000059664"	"00000021"	"90"	"1985"	"0"	"1985"	"0"	"c.1985A>T"	"r.(?)"	"p.(Gln662Leu)"	"20"
"0000059665"	"00000021"	"90"	"1992"	"0"	"1992"	"0"	"c.1992del"	"r.(?)"	"p.(Pro665Leufs*10)"	"20"
"0000059666"	"00000021"	"90"	"1936"	"0"	"1936"	"0"	"c.1936C>T"	"r.(?)"	"p.(Gln646*)"	"20"
"0000059667"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	"20"
"0000059668"	"00000021"	"10"	"2055"	"0"	"2055"	"0"	"c.2055T>C"	"r.(?)"	"p.(=)"	"21"
"0000059669"	"00000021"	"90"	"2119"	"0"	"2123"	"0"	"c.2119_2123dup"	"r.(?)"	"p.(Thr709Serfs*9)"	"21"
"0000059670"	"00000021"	"90"	"2218"	"-13"	"2222"	"0"	"c.2218-13_2222del"	"r.spl"	"p.?"	"21i_22"
"0000059671"	"00000021"	"50"	"2343"	"0"	"2343"	"0"	"c.2343T>C"	"r.(?)"	"p.(=)"	"22"
"0000059672"	"00000021"	"10"	"2268"	"0"	"2268"	"0"	"c.2268G>A"	"r.(?)"	"p.(=)"	"22"
"0000059673"	"00000021"	"90"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751*)"	"22"
"0000059674"	"00000021"	"90"	"2249"	"0"	"2249"	"0"	"c.2249T>G"	"r.(?)"	"p.(Leu750*)"	"22"
"0000059675"	"00000021"	"90"	"2249"	"0"	"2249"	"0"	"c.2249T>G"	"r.(?)"	"p.(Leu750*)"	"22"
"0000059676"	"00000021"	"10"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	"24"
"0000059677"	"00000021"	"90"	"2695"	"0"	"2695"	"0"	"c.2695C>T"	"r.(?)"	"p.(Gln899*)"	"25"
"0000059678"	"00000021"	"50"	"2717"	"0"	"2717"	"0"	"c.2717T>G"	"r.(?)"	"p.(Leu906Trp)"	"25"
"0000059679"	"00000021"	"90"	"2906"	"0"	"2906"	"0"	"c.2906dup"	"r.(?)"	"p.(Tyr969*)"	"26"
"0000059680"	"00000021"	"90"	"3043"	"0"	"3043"	"0"	"c.3043G>T"	"r.(?)"	"p.(Glu1015*)"	"27"
"0000059681"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175del"	"r.(?)"	"p.(Ile1059*)"	"28"
"0000059682"	"00000021"	"90"	"3292"	"0"	"3292"	"0"	"c.3292G>T"	"r.(?)"	"p.(Glu1098*)"	"28"
"0000059683"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	"28"
"0000059684"	"00000021"	"90"	"3176"	"0"	"3176"	"0"	"c.3176del"	"r.(?)"	"p.(Ile1059Lysfs*6)"	"28"
"0000059685"	"00000021"	"90"	"3422"	"0"	"3422"	"0"	"c.3422dup"	"r.(?)"	"p.(Leu1141Phefs*5)"	"29"
"0000059686"	"00000021"	"90"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000059687"	"00000021"	"90"	"4028"	"0"	"4028"	"0"	"c.4028del"	"r.(?)"	"p.(Lys1343Argfs*2)"	"31"
"0000059688"	"00000021"	"90"	"4001"	"0"	"4001"	"0"	"c.4001del"	"r.(?)"	"p.(Thr1334Ilefs*2)"	"31"
"0000059689"	"00000021"	"90"	"3814"	"0"	"3814"	"0"	"c.3814C>T"	"r.(?)"	"p.(Arg1272*)"	"31"
"0000059691"	"00000021"	"90"	"3922"	"0"	"3922"	"0"	"c.3922C>T"	"r.(?)"	"p.(Gln1308*)"	"31"
"0000059693"	"00000021"	"90"	"4115"	"0"	"4116"	"0"	"c.4115_4116del"	"r.(?)"	"p.(Ile1372Lysfs*5)"	"32"
"0000059694"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	"34"
"0000059695"	"00000021"	"90"	"4656"	"0"	"4656"	"0"	"c.4656del"	"r.(?)"	"p.(Glu1553Lysfs*4)"	"35"
"0000059696"	"00000021"	"90"	"4656"	"0"	"4656"	"0"	"c.4656del"	"r.(?)"	"p.(Glu1553Lysfs*4)"	"35"
"0000059697"	"00000021"	"90"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	"35"
"0000059698"	"00000021"	"50"	"4696"	"0"	"4696"	"0"	"c.4696G>C"	"r.(?)"	"p.(Ala1566Pro)"	"35"
"0000059699"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000059700"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000059701"	"00000021"	"90"	"4732"	"0"	"4732"	"0"	"c.4732G>T"	"r.(?)"	"p.(Glu1578*)"	"36"
"0000059702"	"00000021"	"90"	"4771"	"0"	"4771"	"0"	"c.4771C>T"	"r.(?)"	"p.(Gln1591*)"	"36"
"0000059703"	"00000021"	"50"	"4806"	"0"	"4806"	"0"	"c.4806G>A"	"r.(?)"	"p.(=)"	"36"
"0000059704"	"00000021"	"90"	"4792"	"0"	"4795"	"0"	"c.4792_4795del"	"r.(?)"	"p.(Lys1598Serfs*8)"	"36"
"0000059705"	"00000021"	"90"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000059706"	"00000021"	"90"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	"37"
"0000059707"	"00000021"	"90"	"4966"	"0"	"4967"	"0"	"c.4966_4967del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	"37"
"0000059708"	"00000021"	"90"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	"37"
"0000059709"	"00000021"	"90"	"5046"	"0"	"5046"	"0"	"c.5046del"	"r.(?)"	"p.(Val1683*)"	"38"
"0000059710"	"00000021"	"50"	"5081"	"0"	"5081"	"0"	"c.5081T>C"	"r.(?)"	"p.(Leu1694Pro)"	"38"
"0000059711"	"00000021"	"90"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	"38"
"0000059712"	"00000021"	"90"	"5256"	"0"	"5257"	"0"	"c.5256_5257del"	"r.(?)"	"p.(Ala1753Argfs*7)"	"39"
"0000059713"	"00000021"	"90"	"5344"	"0"	"5344"	"0"	"c.5344C>T"	"r.(?)"	"p.(Arg1782*)"	"39"
"0000059714"	"00000021"	"90"	"5515"	"0"	"5518"	"0"	"c.5515_5518del"	"r.(?)"	"p.(Glu1839Lysfs*11)"	"40"
"0000059715"	"00000021"	"90"	"5519"	"0"	"5537"	"0"	"c.5519_5537del"	"r.(?)"	"p.(Lys1840Argfs*5)"	"40"
"0000059716"	"00000021"	"90"	"5434"	"0"	"5435"	"0"	"c.5434_5435del"	"r.(?)"	"p.(Glu1812Lysfs*5)"	"40"
"0000059717"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	"40"
"0000059718"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	"40"
"0000059719"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000059720"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000059721"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000059722"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000059723"	"00000021"	"90"	"-8388608"	"0"	"8388607"	"0"	"c.?G>T"	"r.(?)"	"p.(Glu1903*)"	"41"
"0000059724"	"00000021"	"90"	"-8388608"	"0"	"8388607"	"0"	"c.?G>T"	"r.(?)"	"p.(Glu1903*)"	"41"
"0000059725"	"00000021"	"90"	"5611"	"0"	"5614"	"0"	"c.5611_5614del"	"r.(?)"	"p.(Gln1871Valfs*2)"	"41"
"0000059726"	"00000021"	"90"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000059727"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	"42"
"0000059728"	"00000021"	"90"	"5734"	"0"	"5734"	"0"	"c.5734del"	"r.(?)"	"p.(Trp1912Glyfs*11)"	"42"
"0000059729"	"00000021"	"90"	"5722"	"0"	"5722"	"0"	"c.5722G>T"	"r.(?)"	"p.(Glu1908*)"	"42"
"0000059730"	"00000021"	"90"	"5813"	"0"	"5817"	"0"	"c.5813_5817del"	"r.(?)"	"p.(Thr1938Asnfs*16)"	"42"
"0000059731"	"00000021"	"90"	"5824"	"0"	"5824"	"0"	"c.5824C>T"	"r.(?)"	"p.(Gln1942*)"	"42"
"0000059732"	"00000021"	"90"	"5776"	"0"	"5776"	"0"	"c.5776C>T"	"r.(?)"	"p.(Arg1926*)"	"42"
"0000059733"	"00000021"	"90"	"5941"	"0"	"5941"	"0"	"c.5941G>T"	"r.(?)"	"p.(Glu1981*)"	"43"
"0000059734"	"00000021"	"90"	"5932"	"0"	"5932"	"0"	"c.5932C>T"	"r.(?)"	"p.(Arg1978*)"	"43"
"0000059735"	"00000021"	"90"	"5865"	"0"	"5867"	"0"	"c.5865_5867delinsGG"	"r.(?)"	"p.(Glu1956Glyfs*9)"	"43"
"0000059736"	"00000021"	"90"	"5866"	"0"	"5866"	"0"	"c.5866G>T"	"r.(?)"	"p.(Glu1956*)"	"43"
"0000059737"	"00000021"	"90"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Tyr2024*)"	"44"
"0000059738"	"00000021"	"90"	"6031"	"0"	"6031"	"0"	"c.6031C>T"	"r.(?)"	"p.(Arg2011*)"	"44"
"0000059739"	"00000021"	"90"	"6331"	"0"	"6331"	"0"	"c.6331C>T"	"r.(?)"	"p.(Gln2111*)"	"46"
"0000059740"	"00000021"	"90"	"6277"	"0"	"6277"	"0"	"c.6277del"	"r.(?)"	"p.(Val2093Serfs*4)"	"46"
"0000059741"	"00000021"	"90"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	"48"
"0000059742"	"00000021"	"50"	"6684"	"0"	"6684"	"0"	"c.6684T>G"	"r.(?)"	"p.(Asn2228Lys)"	"49"
"0000059743"	"00000021"	"90"	"6870"	"0"	"6870"	"0"	"c.6870del"	"r.(?)"	"p.(Gln2291Lysfs*10)"	"50"
"0000059744"	"00000021"	"90"	"6869"	"0"	"6869"	"0"	"c.6869del"	"r.(?)"	"p.(Asn2290Ilefs*11)"	"50"
"0000059745"	"00000021"	"90"	"7366"	"0"	"7369"	"0"	"c.7366_7369del"	"r.(?)"	"p.(Thr2457Alafs*27)"	"54"
"0000059746"	"00000021"	"90"	"7341"	"0"	"7341"	"0"	"c.7341dup"	"r.(?)"	"p.(Leu2448Thrfs*8)"	"54"
"0000059747"	"00000021"	"90"	"7318"	"0"	"7321"	"0"	"c.7318_7321dup"	"r.(?)"	"p.(Leu2441Serfs*16)"	"54"
"0000059748"	"00000021"	"50"	"7311"	"0"	"7313"	"0"	"c.7311_7313del"	"r.(?)"	"p.(Lys2437del)"	"54"
"0000059749"	"00000021"	"90"	"1066"	"-1"	"1066"	"-1"	"c.1066-1G>A"	"r.spl"	"p.?"	"12i"
"0000059750"	"00000021"	"90"	"1189"	"1"	"1189"	"1"	"c.1189+1G>A"	"r.spl"	"p.?"	"13i"
"0000059751"	"00000021"	"90"	"1711"	"5"	"1711"	"5"	"c.1711+5A>G"	"r.spl?"	"p.?"	"17i"
"0000059752"	"00000021"	"90"	"1910"	"-2"	"1910"	"-2"	"c.1910-2A>C"	"r.spl"	"p.?"	"19i"
"0000059753"	"00000021"	"10"	"2052"	"30"	"2052"	"30"	"c.2052+30del"	"r.(=)"	"p.(=)"	"20i"
"0000059754"	"00000021"	"90"	"2218"	"-1"	"2225"	"0"	"c.2218-1_2225del"	"r.spl"	"p.?"	"21i_22"
"0000059755"	"00000021"	"90"	"2218"	"-1"	"2225"	"0"	"c.2218-1_2225del"	"r.spl"	"p.?"	"21i_22"
"0000059756"	"00000021"	"90"	"2218"	"-2"	"2218"	"-2"	"c.2218-2A>C"	"r.spl"	"p.?"	"21i"
"0000059757"	"00000021"	"10"	"2217"	"45"	"2217"	"45"	"c.2217+45T>C"	"r.(=)"	"p.(=)"	"21i"
"0000059758"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998*)"	"26i"
"0000059759"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998*)"	"26i"
"0000059760"	"00000021"	"90"	"3104"	"-2"	"3104"	"-2"	"c.3104-2A>G"	"r.spl"	"p.?"	"27i"
"0000059761"	"00000021"	"90"	"3104"	"-1"	"3104"	"-1"	"c.3104-1G>A"	"r.spl"	"p.?"	"27i"
"0000059762"	"00000021"	"90"	"3310"	"-1"	"3310"	"0"	"c.3310-1_3310delinsAA"	"r.spl"	"p.?"	"28i_29"
"0000059763"	"00000021"	"90"	"3310"	"-1"	"3310"	"-1"	"c.3310-1G>C"	"r.spl"	"p.?"	"28i"
"0000059764"	"00000021"	"90"	"103"	"-18"	"103"	"-13"	"c.103-18_103-13del"	"r.?"	"p.?"	"2i"
"0000059765"	"00000021"	"90"	"4195"	"-1"	"4195"	"-1"	"c.4195-1G>A"	"r.spl"	"p.?"	"32i"
"0000059766"	"00000021"	"10"	"4704"	"46"	"4704"	"46"	"c.4704+46del"	"r.(=)"	"p.(=)"	"35i"
"0000059767"	"00000021"	"90"	"5226"	"1"	"5226"	"1"	"c.5226+1G>A"	"r.spl"	"p.?"	"38i"
"0000059769"	"00000021"	"90"	"180"	"2"	"180"	"2"	"c.180+2T>A"	"r.spl"	"p.?"	"3i"
"0000059770"	"00000021"	"90"	"180"	"1"	"180"	"1"	"c.180+1G>T"	"r.spl"	"p.?"	"3i"
"0000059771"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.?"	"40i"
"0000059772"	"00000021"	"10"	"5709"	"45"	"5709"	"45"	"c.5709+45G>C"	"r.(=)"	"p.(=)"	"41i"
"0000059773"	"00000021"	"10"	"5709"	"25"	"5709"	"25"	"c.5709+25A>C"	"r.(=)"	"p.(=)"	"41i"
"0000059774"	"00000021"	"90"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(=)"	"p.(=)"	"45i"
"0000059775"	"00000021"	"10"	"6522"	"12"	"6522"	"12"	"c.6522+12dup"	"r.(=)"	"p.(=)"	"47i"
"0000059776"	"00000021"	"10"	"7035"	"-38"	"7035"	"-38"	"c.7035-38C>G"	"r.(=)"	"p.(=)"	"51i"
"0000059777"	"00000021"	"10"	"7210"	"-22"	"7210"	"-22"	"c.7210-22T>C"	"r.(=)"	"p.(=)"	"53i"
"0000059778"	"00000021"	"10"	"297"	"36"	"297"	"36"	"c.297+36A>G"	"r.(=)"	"p.(=)"	"5i"
"0000059779"	"00000021"	"90"	"4714"	"0"	"4714"	"0"	"c.4714G>T"	"r.(?)"	"p.(Glu1572*)"	"36"
"0000059780"	"00000021"	"90"	"4714"	"0"	"4714"	"0"	"c.4714G>T"	"r.(?)"	"p.(Glu1572*)"	"36"
"0000079582"	"00000021"	"00"	"2615"	"0"	"2615"	"0"	"c.2615C>T"	"r.(?)"	"p.(Ser872Leu)"	""
"0000079691"	"00000021"	"00"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000086044"	"00000021"	"90"	"1975"	"0"	"1975"	"0"	"c.1975A>T"	"r.(?)"	"p.(Lys659*)"	"20"
"0000086045"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000130076"	"00000021"	"70"	"3894"	"0"	"3894"	"0"	"c.3894dup"	"r.(?)"	"p.(Lys1299*)"	""
"0000162796"	"00000021"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	"3"
"0000170887"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	"3"
"0000170888"	"00000021"	"90"	"1322"	"0"	"1322"	"0"	"c.1322T>A"	"r.(?)"	"p.(Leu441*)"	"14"
"0000193784"	"00000021"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.[451c>u, 442_495del, 442_516del]"	"p.[Arg151*, Leu148_Glu165del, Leu148_Lys172del]"	"7"
"0000193785"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.[4723a>u, 4705_4812del]"	"p.[Lys1575*, Glu1569_Trp1604del]"	"36"
"0000193786"	"00000021"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.[451c>u, 442_495del, 442_516del]"	"p.[Arg151*, Leu148_Glu165del, Leu148_Lys172del]"	"7"
"0000193787"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.[4723a>u, 4705_4812del]"	"p.[Lys1575*, Glu1569_Trp1604del]"	"36"
"0000247088"	"00000021"	"10"	"251"	"-11"	"251"	"-11"	"c.251-11T>A"	"r.(=)"	"p.(=)"	""
"0000247122"	"00000021"	"10"	"384"	"0"	"384"	"0"	"c.384T>C"	"r.(?)"	"p.(Asp128=)"	""
"0000250500"	"00000021"	"70"	"6897"	"0"	"6897"	"0"	"c.6897del"	"r.(?)"	"p.(Val2300Ter)"	""
"0000250986"	"00000021"	"10"	"251"	"-11"	"251"	"-11"	"c.251-11T>A"	"r.(=)"	"p.(=)"	""
"0000251062"	"00000021"	"10"	"1653"	"0"	"1653"	"0"	"c.1653T>G"	"r.(?)"	"p.(Asp551Glu)"	""
"0000251076"	"00000021"	"10"	"1558"	"0"	"1558"	"0"	"c.1558T>C"	"r.(?)"	"p.(Phe520Leu)"	""
"0000251117"	"00000021"	"10"	"2717"	"0"	"2717"	"0"	"c.2717T>G"	"r.(?)"	"p.(Leu906Trp)"	""
"0000251520"	"00000021"	"10"	"5587"	"-78"	"5587"	"-78"	"c.5587-78T>C"	"r.(=)"	"p.(=)"	""
"0000251521"	"00000021"	"10"	"4029"	"29"	"4029"	"29"	"c.4029+29del"	"r.(=)"	"p.(=)"	""
"0000251522"	"00000021"	"10"	"2217"	"45"	"2217"	"45"	"c.2217+45T>C"	"r.(=)"	"p.(=)"	""
"0000251523"	"00000021"	"10"	"2052"	"30"	"2052"	"30"	"c.2052+30del"	"r.(=)"	"p.(=)"	""
"0000251524"	"00000021"	"10"	"1824"	"59"	"1824"	"59"	"c.1824+59del"	"r.(=)"	"p.(=)"	""
"0000251525"	"00000021"	"10"	"1624"	"-5"	"1624"	"-5"	"c.1624-5T>C"	"r.spl?"	"p.?"	""
"0000251526"	"00000021"	"10"	"442"	"-11"	"442"	"-11"	"c.442-11del"	"r.(=)"	"p.(=)"	""
"0000251692"	"00000021"	"30"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000253464"	"00000021"	"10"	"2055"	"0"	"2055"	"0"	"c.2055T>C"	"r.(?)"	"p.(Ala685=)"	""
"0000253859"	"00000021"	"10"	"3574"	"-9"	"3574"	"-9"	"c.3574-9del"	"r.(=)"	"p.(=)"	""
"0000253860"	"00000021"	"10"	"442"	"-19"	"442"	"-19"	"c.442-19T>A"	"r.(=)"	"p.(=)"	""
"0000254241"	"00000021"	"30"	"3654"	"0"	"3654"	"0"	"c.3654T>C"	"r.(?)"	"p.(Leu1218=)"	""
"0000254689"	"00000021"	"30"	"1549"	"0"	"1549"	"0"	"c.1549T>C"	"r.(?)"	"p.(Leu517=)"	""
"0000255278"	"00000021"	"30"	"1360"	"-4"	"1360"	"-4"	"c.1360-4T>G"	"r.spl?"	"p.?"	""
"0000256234"	"00000021"	"50"	"7321"	"0"	"7321"	"0"	"c.7321T>G"	"r.(?)"	"p.(Leu2441Val)"	""
"0000256711"	"00000021"	"50"	"3310"	"-7"	"3310"	"-7"	"c.3310-7T>G"	"r.(=)"	"p.(=)"	""
"0000264539"	"00000021"	"10"	"-20"	"0"	"-20"	"0"	"c.-20G>A"	"r.(?)"	"p.(=)"	""
"0000264540"	"00000021"	"50"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Cys468Tyr)"	""
"0000264541"	"00000021"	"10"	"1522"	"6"	"1522"	"6"	"c.1522+6C>T"	"r.(=)"	"p.(=)"	""
"0000264542"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.(=)"	"p.(=)"	""
"0000264543"	"00000021"	"30"	"2999"	"0"	"2999"	"0"	"c.2999A>G"	"r.(?)"	"p.(Asn1000Ser)"	""
"0000264545"	"00000021"	"50"	"4360"	"0"	"4360"	"0"	"c.4360G>A"	"r.(?)"	"p.(Glu1454Lys)"	""
"0000264547"	"00000021"	"10"	"4438"	"-7"	"4438"	"-7"	"c.4438-7A>G"	"r.(=)"	"p.(=)"	""
"0000264548"	"00000021"	"10"	"4476"	"0"	"4476"	"0"	"c.4476A>G"	"r.(?)"	"p.(Glu1492=)"	""
"0000264549"	"00000021"	"30"	"4555"	"0"	"4555"	"0"	"c.4555A>T"	"r.(?)"	"p.(Ile1519Leu)"	""
"0000264551"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0000264552"	"00000021"	"10"	"5013"	"-20"	"5013"	"-19"	"c.5013-20_5013-19del"	"r.(=)"	"p.(=)"	""
"0000264553"	"00000021"	"10"	"5856"	"-16"	"5856"	"-16"	"c.5856-16A>T"	"r.(=)"	"p.(=)"	""
"0000264555"	"00000021"	"10"	"6271"	"-15"	"6271"	"-15"	"c.6271-15C>T"	"r.(=)"	"p.(=)"	""
"0000264556"	"00000021"	"10"	"6629"	"0"	"6629"	"0"	"c.6629G>A"	"r.(?)"	"p.(Arg2210His)"	""
"0000264557"	"00000021"	"10"	"6678"	"0"	"6678"	"0"	"c.6678A>G"	"r.(?)"	"p.(Ala2226=)"	""
"0000264558"	"00000021"	"10"	"6960"	"10"	"6960"	"10"	"c.6960+10G>A"	"r.(=)"	"p.(=)"	""
"0000264559"	"00000021"	"10"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	""
"0000266672"	"00000021"	"50"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	""
"0000266673"	"00000021"	"10"	"2268"	"0"	"2268"	"0"	"c.2268="	"r.(=)"	"p.(Ser756=)"	""
"0000266674"	"00000021"	"50"	"232"	"0"	"232"	"0"	"c.232G>A"	"r.(?)"	"p.(Glu78Lys)"	""
"0000266677"	"00000021"	"90"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271Ter)"	""
"0000266678"	"00000021"	"10"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000266679"	"00000021"	"10"	"6522"	"12"	"6522"	"12"	"c.6522+12dup"	"r.(=)"	"p.(=)"	""
"0000266680"	"00000021"	"50"	"6736"	"0"	"6736"	"0"	"c.6736A>G"	"r.(?)"	"p.(Lys2246Glu)"	""
"0000268097"	"00000021"	"90"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271Ter)"	""
"0000268098"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0000269976"	"00000021"	"10"	"-27"	"-56"	"-27"	"-56"	"c.-27-56A>C"	"r.(=)"	"p.(=)"	""
"0000269977"	"00000021"	"10"	"1387"	"0"	"1387"	"0"	"c.1387G>A"	"r.(?)"	"p.(Val463Ile)"	""
"0000269978"	"00000021"	"10"	"1522"	"6"	"1522"	"6"	"c.1522+6C>T"	"r.(=)"	"p.(=)"	""
"0000269979"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556PhefsTer17)"	""
"0000269980"	"00000021"	"30"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0000269982"	"00000021"	"90"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751Ter)"	""
"0000269984"	"00000021"	"10"	"2827"	"0"	"2827"	"0"	"c.2827A>G"	"r.(?)"	"p.(Ile943Val)"	""
"0000269985"	"00000021"	"10"	"2991"	"195"	"2991"	"196"	"c.2991+195_2991+196del"	"r.(=)"	"p.(=)"	""
"0000269986"	"00000021"	"10"	"2991"	"39"	"2991"	"39"	"c.2991+39A>G"	"r.(=)"	"p.(=)"	""
"0000269988"	"00000021"	"70"	"4088"	"0"	"4088"	"0"	"c.4088G>T"	"r.(?)"	"p.(Arg1363Leu)"	""
"0000269989"	"00000021"	"10"	"4119"	"0"	"4119"	"0"	"c.4119A>G"	"r.(?)"	"p.(Lys1373=)"	""
"0000269990"	"00000021"	"10"	"4302"	"53"	"4302"	"53"	"c.4302+53C>G"	"r.(=)"	"p.(=)"	""
"0000269991"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465Ter)"	""
"0000269992"	"00000021"	"10"	"442"	"-54"	"442"	"-54"	"c.442-54del"	"r.(=)"	"p.(=)"	""
"0000269993"	"00000021"	"90"	"4437"	"1"	"4437"	"1"	"c.4437+1G>A"	"r.spl?"	"p.?"	""
"0000269994"	"00000021"	"10"	"4555"	"0"	"4555"	"0"	"c.4555A>T"	"r.(?)"	"p.(Ile1519Leu)"	""
"0000269995"	"00000021"	"90"	"4960"	"0"	"4960"	"0"	"c.4960C>T"	"r.(?)"	"p.(Gln1654Ter)"	""
"0000269996"	"00000021"	"10"	"5126"	"0"	"5126"	"0"	"c.5126A>T"	"r.(?)"	"p.(Gln1709Leu)"	""
"0000269997"	"00000021"	"10"	"517"	"-55"	"517"	"-55"	"c.517-55G>A"	"r.(=)"	"p.(=)"	""
"0000269998"	"00000021"	"10"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000269999"	"00000021"	"10"	"5364"	"112"	"5364"	"112"	"c.5364+112G>A"	"r.(=)"	"p.(=)"	""
"0000270000"	"00000021"	"10"	"5506"	"0"	"5506"	"0"	"c.5506A>G"	"r.(?)"	"p.(Ile1836Val)"	""
"0000270001"	"00000021"	"10"	"5587"	"-98"	"5587"	"-98"	"c.5587-98A>G"	"r.(=)"	"p.(=)"	""
"0000270002"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890Ter)"	""
"0000270003"	"00000021"	"10"	"5856"	"-16"	"5856"	"-16"	"c.5856-16A>G"	"r.(=)"	"p.(=)"	""
"0000270004"	"00000021"	"90"	"6869"	"0"	"6869"	"0"	"c.6869del"	"r.(?)"	"p.(Asn2290IlefsTer11)"	""
"0000270005"	"00000021"	"10"	"6960"	"64"	"6960"	"64"	"c.6960+64A>G"	"r.(=)"	"p.(=)"	""
"0000270006"	"00000021"	"10"	"7034"	"50"	"7034"	"50"	"c.7034+50del"	"r.(=)"	"p.(=)"	""
"0000270007"	"00000021"	"30"	"7276"	"0"	"7276"	"0"	"c.7276G>A"	"r.(?)"	"p.(Asp2426Asn)"	""
"0000270008"	"00000021"	"30"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000273209"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407GlufsTer14)"	""
"0000273210"	"00000021"	"90"	"1419"	"0"	"1423"	"0"	"c.1419_1423del"	"r.(?)"	"p.(Ile474ArgfsTer5)"	""
"0000273211"	"00000021"	"90"	"1501"	"0"	"1501"	"0"	"c.1501G>T"	"r.(?)"	"p.(Glu501Ter)"	""
"0000273212"	"00000021"	"90"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549Ter)"	""
"0000273214"	"00000021"	"30"	"1729"	"0"	"1729"	"0"	"c.1729C>T"	"r.(?)"	"p.(Leu577=)"	""
"0000273215"	"00000021"	"30"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	""
"0000273216"	"00000021"	"90"	"2218"	"-1"	"2225"	"0"	"c.2218-1_2225del"	"r.spl?"	"p.?"	""
"0000273217"	"00000021"	"10"	"2268"	"0"	"2268"	"0"	"c.2268="	"r.(=)"	"p.(Ser756=)"	""
"0000273218"	"00000021"	"50"	"2482"	"0"	"2482"	"0"	"c.2482A>T"	"r.(?)"	"p.(Ser828Cys)"	""
"0000273219"	"00000021"	"10"	"251"	"-10"	"251"	"-10"	"c.251-10A>T"	"r.(=)"	"p.(=)"	""
"0000273220"	"00000021"	"10"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	""
"0000273221"	"00000021"	"30"	"2691"	"0"	"2691"	"0"	"c.2691A>G"	"r.(?)"	"p.(Ile897Met)"	""
"0000273222"	"00000021"	"30"	"2817"	"4"	"2817"	"4"	"c.2817+4C>T"	"r.spl?"	"p.?"	""
"0000273224"	"00000021"	"50"	"341"	"0"	"341"	"0"	"c.341G>A"	"r.(?)"	"p.(Arg114His)"	""
"0000273225"	"00000021"	"90"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123Ter)"	""
"0000273226"	"00000021"	"50"	"4087"	"0"	"4087"	"0"	"c.4087C>T"	"r.(?)"	"p.(Arg1363Trp)"	""
"0000273227"	"00000021"	"30"	"4119"	"0"	"4119"	"0"	"c.4119A>G"	"r.(?)"	"p.(Lys1373=)"	""
"0000273228"	"00000021"	"50"	"4292"	"0"	"4292"	"0"	"c.4292C>T"	"r.(?)"	"p.(Ala1431Val)"	""
"0000273229"	"00000021"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Ter)"	""
"0000273230"	"00000021"	"90"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Arg1508Ter)"	""
"0000273231"	"00000021"	"30"	"4602"	"0"	"4602"	"0"	"c.4602A>C"	"r.(?)"	"p.(Thr1534=)"	""
"0000273232"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0000273233"	"00000021"	"30"	"4806"	"0"	"4806"	"0"	"c.4806G>A"	"r.(?)"	"p.(Thr1602=)"	""
"0000273234"	"00000021"	"50"	"496"	"-28"	"496"	"-28"	"c.496-28A>G"	"r.(=)"	"p.(=)"	""
"0000273235"	"00000021"	"30"	"503"	"0"	"503"	"0"	"c.503G>A"	"r.(?)"	"p.(Arg168His)"	""
"0000273236"	"00000021"	"50"	"5127"	"0"	"5127"	"0"	"c.5127G>T"	"r.(?)"	"p.(Gln1709His)"	""
"0000273237"	"00000021"	"50"	"523"	"0"	"523"	"0"	"c.523C>A"	"r.(?)"	"p.(Gln175Lys)"	""
"0000273238"	"00000021"	"30"	"5322"	"0"	"5322"	"0"	"c.5322C>T"	"r.(?)"	"p.(Leu1774=)"	""
"0000273239"	"00000021"	"30"	"5661"	"0"	"5661"	"0"	"c.5661A>G"	"r.(?)"	"p.(Gln1887=)"	""
"0000273240"	"00000021"	"50"	"6116"	"0"	"6116"	"0"	"c.6116A>G"	"r.(?)"	"p.(Asp2039Gly)"	""
"0000273242"	"00000021"	"30"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	""
"0000273243"	"00000021"	"50"	"722"	"0"	"722"	"0"	"c.722A>G"	"r.(?)"	"p.(Lys241Arg)"	""
"0000273244"	"00000021"	"30"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000273245"	"00000021"	"30"	"99"	"0"	"99"	"0"	"c.99C>T"	"r.(?)"	"p.(Ser33=)"	""
"0000323004"	"00000021"	"50"	"8262"	"0"	"8262"	"0"	"c.*822dup"	"r.(?)"	"p.(=)"	""
"0000323005"	"00000021"	"50"	"7311"	"0"	"7313"	"0"	"c.7311_7313dup"	"r.(?)"	"p.(Lys2437dup)"	""
"0000323006"	"00000021"	"50"	"7126"	"0"	"7126"	"0"	"c.7126C>T"	"r.(?)"	"p.(Pro2376Ser)"	""
"0000323007"	"00000021"	"50"	"6869"	"0"	"6869"	"0"	"c.6869dup"	"r.(?)"	"p.(Asn2290LysfsTer6)"	""
"0000323008"	"00000021"	"50"	"6570"	"0"	"6570"	"0"	"c.6570G>A"	"r.(?)"	"p.(Met2190Ile)"	""
"0000323009"	"00000021"	"30"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000323011"	"00000021"	"50"	"5998"	"0"	"5998"	"0"	"c.5998A>G"	"r.(?)"	"p.(Ile2000Val)"	""
"0000323015"	"00000021"	"50"	"2963"	"0"	"2963"	"0"	"c.2963A>G"	"r.(?)"	"p.(Gln988Arg)"	""
"0000323019"	"00000021"	"50"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751Ter)"	""
"0000323021"	"00000021"	"30"	"1558"	"0"	"1558"	"0"	"c.1558T>C"	"r.(?)"	"p.(Phe520Leu)"	""
"0000323022"	"00000021"	"50"	"1436"	"0"	"1436"	"0"	"c.1436T>C"	"r.(?)"	"p.(Ile479Thr)"	""
"0000323024"	"00000021"	"50"	"1092"	"0"	"1092"	"0"	"c.1092T>G"	"r.(?)"	"p.(Ile364Met)"	""
"0000323025"	"00000021"	"50"	"963"	"0"	"963"	"0"	"c.963T>A"	"r.(?)"	"p.(Asp321Glu)"	""
"0000323027"	"00000021"	"50"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(His280Tyr)"	""
"0000338843"	"00000021"	"10"	"6522"	"12"	"6522"	"12"	"c.6522+12dup"	"r.(=)"	"p.(=)"	""
"0000338845"	"00000021"	"10"	"442"	"-19"	"442"	"-19"	"c.442-19T>A"	"r.(=)"	"p.(=)"	""
"0000340504"	"00000021"	"10"	"4119"	"0"	"4119"	"0"	"c.4119A>G"	"r.(?)"	"p.(Lys1373=)"	""
"0000341553"	"00000021"	"10"	"2055"	"0"	"2055"	"0"	"c.2055T>C"	"r.(?)"	"p.(Ala685=)"	""
"0000341590"	"00000021"	"50"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000341803"	"00000021"	"10"	"3710"	"0"	"3710"	"0"	"c.3710G>A"	"r.(?)"	"p.(Arg1237His)"	""
"0000341873"	"00000021"	"50"	"4063"	"0"	"4063"	"0"	"c.4063C>T"	"r.(?)"	"p.(Arg1355Cys)"	""
"0000341942"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465Ter)"	""
"0000342081"	"00000021"	"10"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000342297"	"00000021"	"50"	"6628"	"0"	"6628"	"0"	"c.6628C>T"	"r.(?)"	"p.(Arg2210Cys)"	""
"0000342727"	"00000021"	"30"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000343031"	"00000021"	"90"	"1512"	"0"	"1515"	"0"	"c.1512_1515del"	"r.(?)"	"p.(Arg504SerfsTer10)"	""
"0000343338"	"00000021"	"90"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751Ter)"	""
"0000343394"	"00000021"	"50"	"2446"	"0"	"2446"	"0"	"c.2446C>T"	"r.(?)"	"p.(Arg816Cys)"	""
"0000344097"	"00000021"	"50"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	""
"0000344592"	"00000021"	"90"	"4960"	"0"	"4960"	"0"	"c.4960C>T"	"r.(?)"	"p.(Gln1654Ter)"	""
"0000344682"	"00000021"	"90"	"7048"	"0"	"7048"	"0"	"c.7048C>T"	"r.(?)"	"p.(Gln2350Ter)"	""
"0000344899"	"00000021"	"90"	"1681"	"0"	"1681"	"0"	"c.1681C>T"	"r.(?)"	"p.(Gln561Ter)"	""
"0000345284"	"00000021"	"70"	"7324"	"0"	"7324"	"0"	"c.7324G>T"	"r.(?)"	"p.(Glu2442Ter)"	""
"0000345818"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890Ter)"	""
"0000346411"	"00000021"	"50"	"6547"	"0"	"6547"	"0"	"c.6547C>T"	"r.(?)"	"p.(His2183Tyr)"	""
"0000346872"	"00000021"	"50"	"3878"	"0"	"3878"	"0"	"c.3878T>G"	"r.(?)"	"p.(Leu1293Arg)"	""
"0000347429"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0000347522"	"00000021"	"50"	"959"	"0"	"959"	"0"	"c.959A>G"	"r.(?)"	"p.(Lys320Arg)"	""
"0000347659"	"00000021"	"10"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	""
"0000349361"	"00000021"	"50"	"6398"	"0"	"6398"	"0"	"c.6398C>A"	"r.(?)"	"p.(Thr2133Asn)"	""
"0000350778"	"00000021"	"90"	"6358"	"-7"	"6360"	"0"	"c.6358-7_6360del"	"r.spl?"	"p.?"	""
"0000351400"	"00000021"	"10"	"6357"	"20"	"6357"	"20"	"c.6357+20A>T"	"r.(=)"	"p.(=)"	""
"0000351401"	"00000021"	"10"	"5709"	"18"	"5709"	"18"	"c.5709+18C>A"	"r.(=)"	"p.(=)"	""
"0000351402"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl?"	"p.?"	""
"0000351405"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.(=)"	"p.(=)"	""
"0000351411"	"00000021"	"10"	"-33"	"0"	"-33"	"0"	"c.-33G>T"	"r.(?)"	"p.(=)"	""
"0000358194"	"00000021"	"90"	"5788"	"0"	"5788"	"0"	"c.5788A>T"	"r.(?)"	"p.(Lys1930*)"	"42"
"0000358195"	"00000021"	"90"	"4771"	"0"	"4771"	"0"	"c.4771C>T"	"r.(?)"	"p.(Gln1591*)"	"36"
"0000358196"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	"33"
"0000358197"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"16"
"0000358416"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"16"
"0000438396"	"00000021"	"90"	"3123"	"0"	"3123"	"0"	"c.3123dup"	"r.(?)"	"p.(Lys1042*)"	""
"0000438398"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(=)"	"26i"
"0000438399"	"00000021"	"90"	"1593"	"0"	"1593"	"0"	"c.1593C>A"	"r.(?)"	"p.(Tyr531*)"	"16"
"0000438400"	"00000021"	"90"	"4705"	"-1"	"4705"	"-1"	"c.4705-1G>T"	"r.spl"	"p.?"	"36"
"0000438407"	"00000021"	"90"	"5788"	"0"	"5792"	"0"	"c.5788_5792del"	"r.(?)"	"p.(Lys1930Glufs*24)"	"42"
"0000438408"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(=)"	""
"0000438543"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(=)"	""
"0000438544"	"00000021"	"90"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.(?)"	"p.(Lys484Argfs*8)"	"15"
"0000438628"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000438629"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.?"	"41"
"0000438638"	"00000021"	"90"	"1593"	"0"	"1593"	"0"	"c.1593C>A"	"r.(?)"	"p.(Tyr531*)"	"16"
"0000438639"	"00000021"	"90"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	"42"
"0000487547"	"00000021"	"90"	"2605"	"0"	"2605"	"0"	"c.2605C>T"	"r.(?)"	"p.(Gln869*)"	"25"
"0000549305"	"00000021"	"30"	"7450"	"0"	"7450"	"0"	"c.*10A>G"	"r.(=)"	"p.(=)"	""
"0000549306"	"00000021"	"50"	"7394"	"0"	"7395"	"0"	"c.7394_7395del"	"r.(?)"	"p.(Glu2465ValfsTer2)"	""
"0000549307"	"00000021"	"50"	"7348"	"0"	"7348"	"0"	"c.7348G>T"	"r.(?)"	"p.(Glu2450Ter)"	""
"0000549309"	"00000021"	"50"	"7214"	"0"	"7214"	"0"	"c.7214A>C"	"r.(?)"	"p.(Glu2405Ala)"	""
"0000549310"	"00000021"	"10"	"7129"	"73"	"7129"	"73"	"c.7129+73del"	"r.(=)"	"p.(=)"	""
"0000549311"	"00000021"	"30"	"7070"	"0"	"7070"	"0"	"c.7070A>G"	"r.(?)"	"p.(Glu2357Gly)"	""
"0000549312"	"00000021"	"30"	"7004"	"0"	"7004"	"0"	"c.7004A>G"	"r.(?)"	"p.(Gln2335Arg)"	""
"0000549313"	"00000021"	"30"	"6806"	"0"	"6806"	"0"	"c.6806T>C"	"r.(?)"	"p.(Ile2269Thr)"	""
"0000549314"	"00000021"	"70"	"6628"	"0"	"6628"	"0"	"c.6628C>T"	"r.(?)"	"p.(Arg2210Cys)"	""
"0000549315"	"00000021"	"50"	"6628"	"0"	"6628"	"0"	"c.6628C>T"	"r.(?)"	"p.(Arg2210Cys)"	""
"0000549316"	"00000021"	"50"	"6628"	"0"	"6628"	"0"	"c.6628C>T"	"r.(?)"	"p.(Arg2210Cys)"	""
"0000549317"	"00000021"	"50"	"6628"	"0"	"6628"	"0"	"c.6628C>T"	"r.(?)"	"p.(Arg2210Cys)"	""
"0000549319"	"00000021"	"30"	"6558"	"0"	"6558"	"0"	"c.6558T>G"	"r.(?)"	"p.(His2186Gln)"	""
"0000549320"	"00000021"	"10"	"6522"	"12"	"6522"	"12"	"c.6522+12dup"	"r.(=)"	"p.(=)"	""
"0000549321"	"00000021"	"30"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000549322"	"00000021"	"30"	"6235"	"0"	"6235"	"0"	"c.6235C>A"	"r.(?)"	"p.(Leu2079Ile)"	""
"0000549323"	"00000021"	"10"	"6162"	"0"	"6162"	"0"	"c.6162T>C"	"r.(?)"	"p.(His2054=)"	""
"0000549324"	"00000021"	"50"	"6142"	"0"	"6142"	"0"	"c.6142G>C"	"r.(?)"	"p.(Gly2048Arg)"	""
"0000549325"	"00000021"	"10"	"6136"	"-19"	"6136"	"-19"	"c.6136-19T>G"	"r.(=)"	"p.(=)"	""
"0000549326"	"00000021"	"50"	"6098"	"0"	"6098"	"0"	"c.6098A>G"	"r.(?)"	"p.(Glu2033Gly)"	""
"0000549328"	"00000021"	"50"	"6034"	"0"	"6034"	"0"	"c.6034G>T"	"r.(?)"	"p.(Asp2012Tyr)"	""
"0000549329"	"00000021"	"50"	"6032"	"0"	"6032"	"0"	"c.6032G>A"	"r.(?)"	"p.(Arg2011Gln)"	""
"0000549330"	"00000021"	"30"	"5905"	"0"	"5905"	"0"	"c.5905A>G"	"r.(?)"	"p.(Met1969Val)"	""
"0000549332"	"00000021"	"50"	"5583"	"0"	"5583"	"0"	"c.5583A>C"	"r.(?)"	"p.(Leu1861Phe)"	""
"0000549333"	"00000021"	"10"	"5506"	"0"	"5506"	"0"	"c.5506A>G"	"r.(?)"	"p.(Ile1836Val)"	""
"0000549334"	"00000021"	"90"	"5344"	"0"	"5344"	"0"	"c.5344C>T"	"r.(?)"	"p.(Arg1782Ter)"	""
"0000549335"	"00000021"	"50"	"5338"	"0"	"5338"	"0"	"c.5338G>A"	"r.(?)"	"p.(Val1780Ile)"	""
"0000549336"	"00000021"	"50"	"5324"	"0"	"5324"	"0"	"c.5324A>G"	"r.(?)"	"p.(Asn1775Ser)"	""
"0000549338"	"00000021"	"30"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000549339"	"00000021"	"10"	"5227"	"-14"	"5227"	"-14"	"c.5227-14dup"	"r.(=)"	"p.(=)"	""
"0000549340"	"00000021"	"10"	"5227"	"-14"	"5227"	"-14"	"c.5227-14dup"	"r.(=)"	"p.(=)"	""
"0000549341"	"00000021"	"10"	"5199"	"0"	"5199"	"0"	"c.5199A>G"	"r.(?)"	"p.(Gln1733=)"	""
"0000549342"	"00000021"	"50"	"5155"	"0"	"5155"	"0"	"c.5155C>G"	"r.(?)"	"p.(Pro1719Ala)"	""
"0000549343"	"00000021"	"30"	"5055"	"0"	"5055"	"0"	"c.5055G>A"	"r.(?)"	"p.(Ala1685=)"	""
"0000549344"	"00000021"	"30"	"4816"	"0"	"4816"	"0"	"c.4816T>C"	"r.(?)"	"p.(Leu1606=)"	""
"0000549345"	"00000021"	"50"	"4754"	"0"	"4754"	"0"	"c.4754A>G"	"r.(?)"	"p.(His1585Arg)"	""
"0000549347"	"00000021"	"90"	"4705"	"-1"	"4705"	"-1"	"c.4705-1G>T"	"r.spl?"	"p.?"	""
"0000549348"	"00000021"	"90"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000549350"	"00000021"	"30"	"4438"	"-7"	"4438"	"-7"	"c.4438-7A>G"	"r.(=)"	"p.(=)"	""
"0000549351"	"00000021"	"30"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	""
"0000549352"	"00000021"	"50"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	""
"0000549353"	"00000021"	"30"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	""
"0000549354"	"00000021"	"10"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	""
"0000549356"	"00000021"	"10"	"4087"	"0"	"4087"	"0"	"c.4087C>A"	"r.(?)"	"p.(Arg1363=)"	""
"0000549358"	"00000021"	"50"	"3853"	"0"	"3853"	"0"	"c.3853A>G"	"r.(?)"	"p.(Lys1285Glu)"	""
"0000549359"	"00000021"	"50"	"3826"	"0"	"3826"	"0"	"c.3826G>A"	"r.(?)"	"p.(Gly1276Arg)"	""
"0000549360"	"00000021"	"50"	"3790"	"0"	"3790"	"0"	"c.3790C>T"	"r.(?)"	"p.(Arg1264Cys)"	""
"0000549361"	"00000021"	"10"	"3710"	"0"	"3710"	"0"	"c.3710G>A"	"r.(?)"	"p.(Arg1237His)"	""
"0000549362"	"00000021"	"30"	"3654"	"0"	"3654"	"0"	"c.3654T>C"	"r.(?)"	"p.(Leu1218=)"	""
"0000549363"	"00000021"	"50"	"3573"	"3"	"3573"	"3"	"c.3573+3A>G"	"r.spl?"	"p.?"	""
"0000549364"	"00000021"	"10"	"3465"	"0"	"3465"	"0"	"c.3465G>A"	"r.(?)"	"p.(Leu1155=)"	""
"0000549365"	"00000021"	"90"	"3461"	"1"	"3461"	"1"	"c.3461+1G>A"	"r.spl?"	"p.?"	""
"0000549366"	"00000021"	"70"	"3310"	"-1"	"3310"	"-1"	"c.3310-1G>A"	"r.spl?"	"p.?"	""
"0000549367"	"00000021"	"50"	"3278"	"0"	"3278"	"0"	"c.3278G>A"	"r.(?)"	"p.(Arg1093His)"	""
"0000549368"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059AsnfsTer11)"	""
"0000549369"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059AsnfsTer11)"	""
"0000549370"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059AsnfsTer11)"	""
"0000549371"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059AsnfsTer11)"	""
"0000549372"	"00000021"	"30"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000549373"	"00000021"	"50"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000549374"	"00000021"	"10"	"2934"	"0"	"2934"	"0"	"c.2934C>T"	"r.(?)"	"p.(Asp978=)"	""
"0000549375"	"00000021"	"30"	"2873"	"0"	"2873"	"0"	"c.2873C>T"	"r.(?)"	"p.(Ser958Phe)"	""
"0000549376"	"00000021"	"90"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Arg908Ter)"	""
"0000549377"	"00000021"	"50"	"2615"	"0"	"2615"	"0"	"c.2615C>T"	"r.(?)"	"p.(Ser872Leu)"	""
"0000549380"	"00000021"	"30"	"2484"	"-8"	"2484"	"-4"	"c.2484-8_2484-4dup"	"r.spl?"	"p.?"	""
"0000549381"	"00000021"	"30"	"2484"	"-8"	"2484"	"-4"	"c.2484-8_2484-4dup"	"r.spl?"	"p.?"	""
"0000549383"	"00000021"	"50"	"2446"	"0"	"2446"	"0"	"c.2446C>T"	"r.(?)"	"p.(Arg816Cys)"	""
"0000549384"	"00000021"	"50"	"2273"	"0"	"2273"	"0"	"c.2273T>C"	"r.(?)"	"p.(Val758Ala)"	""
"0000549385"	"00000021"	"50"	"2261"	"0"	"2261"	"0"	"c.2261A>T"	"r.(?)"	"p.(Glu754Val)"	""
"0000549386"	"00000021"	"30"	"2211"	"0"	"2211"	"0"	"c.2211T>C"	"r.(?)"	"p.(Asn737=)"	""
"0000549387"	"00000021"	"90"	"2119"	"0"	"2123"	"0"	"c.2119_2123dup"	"r.(?)"	"p.(Thr709SerfsTer9)"	""
"0000549388"	"00000021"	"30"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	""
"0000549390"	"00000021"	"10"	"1825"	"-13"	"1825"	"-12"	"c.1825-13_1825-12del"	"r.(=)"	"p.(=)"	""
"0000549391"	"00000021"	"10"	"1825"	"-13"	"1825"	"-12"	"c.1825-13_1825-12del"	"r.(=)"	"p.(=)"	""
"0000549392"	"00000021"	"30"	"1824"	"16"	"1824"	"16"	"c.1824+16dup"	"r.(=)"	"p.(=)"	""
"0000549393"	"00000021"	"30"	"1729"	"0"	"1729"	"0"	"c.1729C>T"	"r.(?)"	"p.(Leu577=)"	""
"0000549394"	"00000021"	"30"	"1712"	"-6"	"1712"	"-6"	"c.1712-6A>G"	"r.(=)"	"p.(=)"	""
"0000549395"	"00000021"	"30"	"1712"	"-6"	"1712"	"-6"	"c.1712-6A>G"	"r.(=)"	"p.(=)"	""
"0000549396"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666dup"	"r.(?)"	"p.(Ile556AsnfsTer20)"	""
"0000549397"	"00000021"	"90"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549Ter)"	""
"0000549398"	"00000021"	"50"	"1636"	"0"	"1636"	"0"	"c.1636G>A"	"r.(?)"	"p.(Glu546Lys)"	""
"0000549399"	"00000021"	"10"	"1624"	"-5"	"1624"	"-5"	"c.1624-5T>C"	"r.spl?"	"p.?"	""
"0000549400"	"00000021"	"30"	"1522"	"6"	"1522"	"6"	"c.1522+6C>T"	"r.(=)"	"p.(=)"	""
"0000549401"	"00000021"	"50"	"1448"	"0"	"1448"	"0"	"c.1448C>T"	"r.(?)"	"p.(Thr483Ile)"	""
"0000549402"	"00000021"	"90"	"1419"	"0"	"1423"	"0"	"c.1419_1423del"	"r.(?)"	"p.(Ile474ArgfsTer5)"	""
"0000549403"	"00000021"	"30"	"1347"	"0"	"1347"	"0"	"c.1347A>G"	"r.(?)"	"p.(Lys449=)"	""
"0000549404"	"00000021"	"50"	"1092"	"0"	"1092"	"0"	"c.1092T>G"	"r.(?)"	"p.(Ile364Met)"	""
"0000549405"	"00000021"	"30"	"1092"	"0"	"1092"	"0"	"c.1092T>G"	"r.(?)"	"p.(Ile364Met)"	""
"0000549406"	"00000021"	"30"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000549407"	"00000021"	"30"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000549408"	"00000021"	"30"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000549409"	"00000021"	"30"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000549410"	"00000021"	"30"	"1005"	"0"	"1005"	"0"	"c.1005G>A"	"r.(?)"	"p.(Arg335=)"	""
"0000549411"	"00000021"	"10"	"853"	"-12"	"853"	"-11"	"c.853-12_853-11insG"	"r.(=)"	"p.(=)"	""
"0000549412"	"00000021"	"10"	"853"	"-12"	"853"	"-11"	"c.853-12_853-11insG"	"r.(=)"	"p.(=)"	""
"0000549413"	"00000021"	"10"	"853"	"-127"	"853"	"-125"	"c.853-127_853-125dup"	"r.(=)"	"p.(=)"	""
"0000549414"	"00000021"	"10"	"852"	"73"	"852"	"73"	"c.852+73A>G"	"r.(=)"	"p.(=)"	""
"0000549415"	"00000021"	"30"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000549416"	"00000021"	"10"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000549417"	"00000021"	"90"	"734"	"0"	"735"	"0"	"c.734_735del"	"r.(?)"	"p.(Glu245ValfsTer10)"	""
"0000549418"	"00000021"	"90"	"679"	"0"	"680"	"0"	"c.679_680del"	"r.(?)"	"p.(Glu227SerfsTer2)"	""
"0000549419"	"00000021"	"50"	"564"	"0"	"564"	"0"	"c.564T>G"	"r.(?)"	"p.(Asp188Glu)"	""
"0000549420"	"00000021"	"30"	"562"	"0"	"562"	"0"	"c.562G>A"	"r.(?)"	"p.(Asp188Asn)"	""
"0000549421"	"00000021"	"90"	"437"	"0"	"437"	"0"	"c.437del"	"r.(?)"	"p.(Glu146GlyfsTer17)"	""
"0000549424"	"00000021"	"30"	"343"	"0"	"343"	"0"	"c.343A>G"	"r.(?)"	"p.(Asn115Asp)"	""
"0000549425"	"00000021"	"50"	"341"	"0"	"341"	"0"	"c.341G>A"	"r.(?)"	"p.(Arg114His)"	""
"0000549426"	"00000021"	"50"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000549427"	"00000021"	"30"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000549429"	"00000021"	"30"	"181"	"-10"	"181"	"-10"	"c.181-10dup"	"r.(=)"	"p.(=)"	""
"0000549430"	"00000021"	"50"	"162"	"0"	"162"	"0"	"c.162T>G"	"r.(?)"	"p.(Ile54Met)"	""
"0000549431"	"00000021"	"10"	"-27"	"-188"	"-27"	"-188"	"c.-27-188dup"	"r.(=)"	"p.(=)"	""
"0000604355"	"00000021"	"70"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Gln1302*)"	"31"
"0000604356"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000604357"	"00000021"	"70"	"1429"	"0"	"1429"	"0"	"c.1429C>T"	"r.(?)"	"p.(Arg477*)"	"15"
"0000604358"	"00000021"	"70"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	"6"
"0000604359"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000604360"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(=)"	"43i"
"0000604361"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(=)"	"43i"
"0000604362"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	"35"
"0000604363"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.(?)"	"p.(?)"	"2"
"0000604364"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(=)"	"43i"
"0000604392"	"00000021"	"70"	"3847"	"0"	"3847"	"0"	"c.3847C>T"	"r.(?)"	"p.(Gln1283*)"	"31"
"0000604393"	"00000021"	"70"	"6271"	"-1"	"6271"	"-1"	"c.6271-1G>A"	"r.spl"	"p.?"	""
"0000604562"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	"35/54"
"0000604563"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.(?)"	"p.(?)"	"2"
"0000604564"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(=)"	"43i"
"0000604565"	"00000021"	"70"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Gln1302*)"	"31/54"
"0000604566"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	"35/54"
"0000604567"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.(?)"	"p.(?)"	"2"
"0000614408"	"00000021"	"90"	"7341"	"0"	"7341"	"0"	"c.7341dup"	"r.(?)"	"p.(Leu2448ThrfsTer8)"	""
"0000614409"	"00000021"	"50"	"6244"	"0"	"6244"	"0"	"c.6244G>A"	"r.(?)"	"p.(Ala2082Thr)"	""
"0000614410"	"00000021"	"50"	"5338"	"0"	"5338"	"0"	"c.5338G>A"	"r.(?)"	"p.(Val1780Ile)"	""
"0000614411"	"00000021"	"50"	"4366"	"0"	"4366"	"0"	"c.4366G>A"	"r.(?)"	"p.(Ala1456Thr)"	""
"0000614412"	"00000021"	"30"	"4314"	"0"	"4314"	"0"	"c.4314T>G"	"r.(?)"	"p.(Ala1438=)"	""
"0000614413"	"00000021"	"90"	"3657"	"0"	"3657"	"0"	"c.3657dup"	"r.(?)"	"p.(Lys1220Ter)"	""
"0000614415"	"00000021"	"30"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000614416"	"00000021"	"50"	"2060"	"0"	"2060"	"0"	"c.2060A>G"	"r.(?)"	"p.(Glu687Gly)"	""
"0000614417"	"00000021"	"30"	"1716"	"0"	"1716"	"0"	"c.1716A>G"	"r.(?)"	"p.(Leu572=)"	""
"0000614418"	"00000021"	"90"	"133"	"0"	"136"	"0"	"c.133_136del"	"r.(?)"	"p.(Gln45LysfsTer3)"	""
"0000620291"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(=)"	"43i"
"0000620293"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(=)"	"43i"
"0000620294"	"00000021"	"90"	"1711"	"1"	"1711"	"1"	"c.1711+1G>A"	"r.1711_1712ins[a;1711+2_1711+43]"	"p.?"	""
"0000620297"	"00000021"	"90"	"214"	"0"	"214"	"0"	"c.214G>T"	"r.214g>u"	"p.Glu72*"	""
"0000620298"	"00000021"	"90"	"5788"	"0"	"5788"	"0"	"c.5788A>T"	"r.(?)"	"p.(Lys1930*)"	""
"0000620299"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.6011_6012ins[6012-58_6012-13;aguuguucauag]"	"p.(=)"	"43i"
"0000620300"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.6011_6012ins[6012-58_6012-13;aguuguucauag]"	"p.(=)"	"43i"
"0000620301"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.6011_6012ins[6012-58_6012-13;aguuguucauag]"	"p.(=)"	"43i"
"0000620302"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.6011_6012ins[6012-58_6012-13;aguuguucauag]"	"p.(=)"	"43i"
"0000620303"	"00000021"	"90"	"1711"	"1"	"1711"	"1"	"c.1711+1G>A"	"r.1711_1712ins[a;1711+2_1711+43]"	"p.?"	"17i"
"0000622983"	"00000021"	"50"	"6116"	"0"	"6116"	"0"	"c.6116A>G"	"r.(?)"	"p.(Asp2039Gly)"	""
"0000622984"	"00000021"	"90"	"2483"	"1"	"2483"	"1"	"c.2483+1G>T"	"r.spl?"	"p.?"	""
"0000622985"	"00000021"	"50"	"2273"	"0"	"2273"	"0"	"c.2273T>C"	"r.(?)"	"p.(Val758Ala)"	""
"0000622986"	"00000021"	"50"	"2217"	"3"	"2217"	"3"	"c.2217+3G>C"	"r.spl?"	"p.?"	""
"0000622987"	"00000021"	"30"	"1035"	"0"	"1035"	"0"	"c.1035T>C"	"r.(?)"	"p.(Ala345=)"	""
"0000624991"	"00000021"	"70"	"5709"	"2"	"5709"	"2"	"c.5709+2T>G"	"r.spl"	"p.?"	""
"0000624992"	"00000021"	"70"	"384"	"0"	"385"	"0"	"c.384_385del"	"r.(?)"	"p.(Asp128Glufs*17)"	""
"0000648663"	"00000021"	"50"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	""
"0000648664"	"00000021"	"30"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000648665"	"00000021"	"90"	"5704"	"0"	"5704"	"0"	"c.5704G>T"	"r.(?)"	"p.(Glu1902*)"	""
"0000648666"	"00000021"	"90"	"4621"	"0"	"4621"	"0"	"c.4621del"	"r.(?)"	"p.(Thr1541Profs*9)"	""
"0000648667"	"00000021"	"70"	"4243"	"0"	"4243"	"0"	"c.4243G>T"	"r.(?)"	"p.(Glu1415*)"	""
"0000648668"	"00000021"	"30"	"2717"	"0"	"2717"	"0"	"c.2717T>G"	"r.(?)"	"p.(Leu906Trp)"	""
"0000648669"	"00000021"	"30"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	""
"0000648670"	"00000021"	"50"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0000648671"	"00000021"	"50"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0000648672"	"00000021"	"10"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000648673"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	""
"0000653219"	"00000021"	"90"	"3176"	"0"	"3176"	"0"	"c.3176del"	"r.(?)"	"p.(Ile1059Lysfs*6)"	""
"0000653229"	"00000021"	"50"	"3176"	"0"	"3176"	"0"	"c.3176dup"	"r.(?)"	"p.(Thr1060Asnfs*10)"	""
"0000653366"	"00000021"	"70"	"5740"	"0"	"5740"	"0"	"c.5740G>T"	"r.(?)"	"p.(Glu1914*)"	""
"0000657210"	"00000021"	"50"	"4805"	"0"	"4805"	"0"	"c.4805C>T"	"r.(?)"	"p.(Thr1602Met)"	""
"0000657211"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465Ter)"	""
"0000664769"	"00000021"	"50"	"1664"	"0"	"1664"	"0"	"c.1664A>T"	"r.(?)"	"p.(Lys555Ile)"	""
"0000664784"	"00000021"	"50"	"1092"	"0"	"1092"	"0"	"c.1092T>G"	"r.(?)"	"p.(Ile364Met)"	""
"0000669200"	"00000021"	"30"	"2717"	"0"	"2717"	"0"	"c.2717T>G"	"r.(?)"	"p.(Leu906Trp)"	""
"0000669201"	"00000021"	"30"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	""
"0000679669"	"00000021"	"30"	"6570"	"0"	"6570"	"0"	"c.6570G>A"	"r.(?)"	"p.(Met2190Ile)"	""
"0000679670"	"00000021"	"30"	"5338"	"0"	"5338"	"0"	"c.5338G>A"	"r.(?)"	"p.(Val1780Ile)"	""
"0000679671"	"00000021"	"90"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Arg1508Ter)"	""
"0000679672"	"00000021"	"30"	"3654"	"0"	"3654"	"0"	"c.3654T>C"	"r.(?)"	"p.(Leu1218=)"	""
"0000679673"	"00000021"	"30"	"2484"	"-8"	"2484"	"-4"	"c.2484-8_2484-4dup"	"r.spl?"	"p.?"	""
"0000679674"	"00000021"	"70"	"2390"	"0"	"2390"	"0"	"c.2390del"	"r.(?)"	"p.(Lys797SerfsTer2)"	""
"0000679675"	"00000021"	"90"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751Ter)"	""
"0000679676"	"00000021"	"50"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	""
"0000679678"	"00000021"	"50"	"341"	"0"	"341"	"0"	"c.341G>A"	"r.(?)"	"p.(Arg114His)"	""
"0000684510"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000684511"	"00000021"	"70"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000685084"	"00000021"	"90"	"5788"	"0"	"5788"	"0"	"c.5788A>T"	"r.(?)"	"p.(Lys1930*)"	""
"0000685085"	"00000021"	"90"	"4771"	"0"	"4771"	"0"	"c.4771C>T"	"r.(?)"	"p.(Gln1591*)"	""
"0000685086"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000685087"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000691438"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.(=)"	"p.(=)"	""
"0000691439"	"00000021"	"10"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	""
"0000691440"	"00000021"	"30"	"1968"	"0"	"1968"	"0"	"c.1968A>C"	"r.(?)"	"p.(Gln656His)"	""
"0000691441"	"00000021"	"30"	"1918"	"0"	"1918"	"0"	"c.1918T>C"	"r.(?)"	"p.(Leu640=)"	""
"0000698821"	"00000021"	"70"	"1623"	"0"	"1623"	"0"	"c.1623G>A"	"r.spl?"	"p.(?)"	""
"0000710294"	"00000021"	"90"	"2605"	"0"	"2605"	"0"	"c.2605C>T"	"r.(?)"	"p.(Gln869*)"	""
"0000713260"	"00000021"	"70"	"2390"	"0"	"2390"	"0"	"c.2390del"	"r.(?)"	"p.(Lys797Serfs*2)"	""
"0000713365"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	""
"0000713368"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000724266"	"00000021"	"50"	"6134"	"0"	"6134"	"0"	"c.6134C>T"	"r.(?)"	"p.(Ser2045Leu)"	""
"0000724267"	"00000021"	"30"	"5968"	"0"	"5968"	"0"	"c.5968A>C"	"r.(?)"	"p.(Lys1990Gln)"	""
"0000724268"	"00000021"	"10"	"5322"	"0"	"5322"	"0"	"c.5322C>T"	"r.(?)"	"p.(Leu1774=)"	""
"0000724269"	"00000021"	"30"	"4806"	"0"	"4806"	"0"	"c.4806G>A"	"r.(?)"	"p.(Thr1602=)"	""
"0000724270"	"00000021"	"50"	"4577"	"0"	"4577"	"0"	"c.4577A>T"	"r.(?)"	"p.(Glu1526Val)"	""
"0000724271"	"00000021"	"50"	"4250"	"0"	"4250"	"0"	"c.4250A>G"	"r.(?)"	"p.(Gln1417Arg)"	""
"0000724272"	"00000021"	"50"	"3858"	"0"	"3858"	"0"	"c.3858C>A"	"r.(?)"	"p.(Phe1286Leu)"	""
"0000724273"	"00000021"	"90"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271Ter)"	""
"0000724274"	"00000021"	"50"	"3660"	"0"	"3660"	"0"	"c.3660G>T"	"r.(?)"	"p.(Lys1220Asn)"	""
"0000724275"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059AsnfsTer11)"	""
"0000724276"	"00000021"	"30"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000724277"	"00000021"	"30"	"2484"	"-8"	"2484"	"-4"	"c.2484-8_2484-4dup"	"r.spl?"	"p.?"	""
"0000724278"	"00000021"	"50"	"2332"	"0"	"2334"	"0"	"c.2332_2334del"	"r.(?)"	"p.(Asn778del)"	""
"0000724279"	"00000021"	"30"	"1729"	"0"	"1729"	"0"	"c.1729C>T"	"r.(?)"	"p.(Leu577=)"	""
"0000724280"	"00000021"	"50"	"1522"	"3"	"1522"	"3"	"c.1522+3A>T"	"r.spl?"	"p.?"	""
"0000724281"	"00000021"	"50"	"1520"	"0"	"1520"	"0"	"c.1520T>G"	"r.(?)"	"p.(Val507Gly)"	""
"0000724282"	"00000021"	"30"	"834"	"0"	"834"	"0"	"c.834C>T"	"r.(?)"	"p.(Asn278=)"	""
"0000724283"	"00000021"	"30"	"777"	"0"	"777"	"0"	"c.777A>G"	"r.(?)"	"p.(Arg259=)"	""
"0000724284"	"00000021"	"30"	"739"	"0"	"739"	"0"	"c.739G>A"	"r.(?)"	"p.(Val247Ile)"	""
"0000724285"	"00000021"	"90"	"734"	"0"	"735"	"0"	"c.734_735del"	"r.(?)"	"p.(Glu245ValfsTer10)"	""
"0000724286"	"00000021"	"90"	"679"	"0"	"680"	"0"	"c.679_680del"	"r.(?)"	"p.(Glu227SerfsTer2)"	""
"0000724287"	"00000021"	"90"	"270"	"0"	"274"	"0"	"c.270_274del"	"r.(?)"	"p.(Lys90Asnfs*6)"	""
"0000729854"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000729855"	"00000021"	"90"	"4714"	"0"	"4714"	"0"	"c.4714G>T"	"r.(?)"	"p.(Glu1572*)"	""
"0000729856"	"00000021"	"90"	"1855"	"0"	"1858"	"0"	"c.1855_1858del"	"r.(?)"	"p.(Arg621Ilefs*2)"	""
"0000729857"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000729858"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000729859"	"00000021"	"90"	"4714"	"0"	"4714"	"0"	"c.4714G>T"	"r.(?)"	"p.(Glu1572*)"	""
"0000730341"	"00000021"	"90"	"4028"	"0"	"4028"	"0"	"c.4028del"	"r.(?)"	"p.(Lys1343Argfs*2)"	""
"0000730361"	"00000021"	"90"	"7341"	"0"	"7341"	"0"	"c.7341dup"	"r.(?)"	"p.(Leu2448Thrfs*8)"	""
"0000730374"	"00000021"	"90"	"7341"	"0"	"7341"	"0"	"c.7341dup"	"r.(?)"	"p.(Leu2448Thrfs*8)"	""
"0000730982"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000730983"	"00000021"	"70"	"2390"	"0"	"2390"	"0"	"c.2390del"	"r.(?)"	"p.(Lys797Serfs*2)"	""
"0000731035"	"00000021"	"70"	"3461"	"2"	"3461"	"3"	"c.3461+2_3461+3delinsGT"	"r.spl"	"p.?"	""
"0000731139"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000731147"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000731149"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000731166"	"00000021"	"90"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.spl?"	"p.?"	""
"0000731172"	"00000021"	"90"	"1247"	"0"	"1247"	"0"	"c.1247T>G"	"r.(?)"	"p.(Leu416*)"	""
"0000731246"	"00000021"	"70"	"4625"	"0"	"4626"	"0"	"c.4625_4626insCATG"	"r.(?)"	"p.(Ala1543Metfs*37)"	""
"0000731247"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000731248"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000731249"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.?"	""
"0000731250"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000731272"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000731273"	"00000021"	"70"	"3181"	"0"	"3182"	"0"	"c.3181_3182del"	"r.(?)"	"p.(Met1061Alafs*8)"	""
"0000731274"	"00000021"	"70"	"1781"	"0"	"1781"	"0"	"c.1781T>A"	"r.(?)"	"p.(Leu594*)"	""
"0000731275"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000731276"	"00000021"	"70"	"297"	"3"	"297"	"3"	"c.297+3A>G"	"r.spl"	"p.?"	""
"0000731316"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000731317"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.(?)"	"p.?"	""
"0000731341"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000731342"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000731345"	"00000021"	"50"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000731433"	"00000021"	"70"	"3012"	"0"	"3012"	"0"	"c.3012del"	"r.(?)"	"p.(Glu1005Asnfs*6)"	""
"0000731437"	"00000021"	"70"	"6916"	"0"	"6916"	"0"	"c.6916A>T"	"r.(?)"	"p.(Arg2306*)"	""
"0000731454"	"00000021"	"70"	"4732"	"0"	"4732"	"0"	"c.4732G>T"	"r.(?)"	"p.(Glu1578*)"	""
"0000731456"	"00000021"	"70"	"1987"	"0"	"1987"	"0"	"c.1987A>T"	"r.(?)"	"p.(Lys663*)"	""
"0000731460"	"00000021"	"90"	"6869"	"0"	"6869"	"0"	"c.6869del"	"r.(?)"	"p.(Asn2290Ilefs*11)"	""
"0000731461"	"00000021"	"90"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	""
"0000731462"	"00000021"	"90"	"1187"	"0"	"1188"	"0"	"c.1187_1188del"	"r.(?)"	"p.(Lys396Argfs*25)"	""
"0000732452"	"00000021"	"50"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	""
"0000732488"	"00000021"	"50"	"1716"	"0"	"1716"	"0"	"c.1716A>G"	"r.(?)"	"p.(Leu572=)"	""
"0000732489"	"00000021"	"50"	"1558"	"0"	"1558"	"0"	"c.1558T>C"	"r.(?)"	"p.(Phe520Leu)"	""
"0000732666"	"00000021"	"70"	"1910"	"-11"	"1910"	"-11"	"c.1910-11T>G"	"r.[(del,=)]"	"p.?"	""
"0000732667"	"00000021"	"70"	"1910"	"-11"	"1910"	"-11"	"c.1910-11T>G"	"r.[(del,=)]"	"p.?"	""
"0000732677"	"00000021"	"70"	"1623"	"5"	"1623"	"5"	"c.1623+5G>A"	"r.(del-exon)"	"p.?"	""
"0000732693"	"00000021"	"70"	"3249"	"0"	"3249"	"0"	"c.3249dupA"	"r.(?)"	"p.(Arg1084Thrfs*11)"	""
"0000732704"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000732705"	"00000021"	"70"	"3097"	"0"	"3097"	"0"	"c.3097A>T"	"r.(?)"	"p.(Lys1033*)"	""
"0000733047"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733048"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.?"	""
"0000733130"	"00000021"	"70"	"3310"	"-1"	"3310"	"-1"	"c.3310-1G>A"	"r.spl"	"p.?"	""
"0000733131"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000733167"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733168"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733169"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733170"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733171"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733172"	"00000021"	"70"	"4438"	"-3"	"4438"	"-3"	"c.4438-3del"	"r.spl"	"p.?"	""
"0000733177"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733178"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000733179"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000733180"	"00000021"	"70"	"5182"	"0"	"5182"	"0"	"c.5182G>T"	"r.(?)"	"p.(Glu1728*)"	""
"0000733201"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000733202"	"00000021"	"70"	"4063"	"0"	"4063"	"0"	"c.4063C>T"	"r.(?)"	"p.(Arg1355Cys)"	""
"0000733203"	"00000021"	"70"	"1711"	"0"	"1711"	"0"	"c.1711G>A"	"r.(?)"	"p.(Gly571Arg)"	""
"0000733334"	"00000021"	"70"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	""
"0000733517"	"00000021"	"70"	"5962"	"0"	"5962"	"0"	"c.5962G>T"	"r.(?)"	"p.(Glu1988*)"	""
"0000733518"	"00000021"	"70"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	""
"0000733580"	"00000021"	"70"	"6818"	"1"	"6818"	"1"	"c.6818+1G>A"	"r.spl"	"p.?"	""
"0000733581"	"00000021"	"70"	"2414"	"0"	"2414"	"0"	"c.2414T>C"	"r.(?)"	"p.(Leu805Pro)"	""
"0000733605"	"00000021"	"70"	"4452"	"0"	"4455"	"0"	"c.4452_4455del"	"r.(?)"	"p.(Lys1484Asnfs*4)"	""
"0000733606"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000733607"	"00000021"	"70"	"4077"	"0"	"4077"	"0"	"c.4077del"	"r.(?)"	"p.(Lys1360Asnfs*2)"	""
"0000733608"	"00000021"	"70"	"2506"	"0"	"2507"	"0"	"c.2506_2507del"	"r.(?)"	"p.(Glu836Ilefs*2)"	""
"0000733609"	"00000021"	"70"	"740"	"0"	"740"	"0"	"c.740del"	"r.(?)"	"p.(Val247Aspfs*7)"	""
"0000733610"	"00000021"	"70"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000733614"	"00000021"	"70"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	""
"0000733615"	"00000021"	"70"	"2483"	"3"	"2483"	"3"	"c.2483+3A>G"	"r.spl"	"p.?"	""
"0000733616"	"00000021"	"70"	"508"	"0"	"508"	"0"	"c.508A>T"	"r.(?)"	"p.(Lys170*)"	""
"0000733631"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000733632"	"00000021"	"70"	"2249"	"0"	"2249"	"0"	"c.2249T>G"	"r.(?)"	"p.(Leu750*)"	""
"0000733633"	"00000021"	"70"	"7048"	"0"	"7048"	"0"	"c.7048C>T"	"r.(?)"	"p.(Gln2350*)"	""
"0000733716"	"00000021"	"70"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549*)"	""
"0000735600"	"00000021"	"90"	"4960"	"0"	"4960"	"0"	"c.4960C>T"	"r.(?)"	"p.(Gln1654*)"	""
"0000735601"	"00000021"	"90"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	""
"0000735723"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	""
"0000735724"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	""
"0000735848"	"00000021"	"70"	"1864"	"0"	"1865"	"0"	"c.1864_1865del"	"r.(?)"	"p.(Asp622PhefsTer5)"	""
"0000735868"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0000735886"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465Ter)"	""
"0000735887"	"00000021"	"70"	"6604"	"0"	"6604"	"0"	"c.6604delA"	"r.(?)"	"p.(Ile2202LeufsTer24)"	""
"0000735888"	"00000021"	"70"	"7328"	"0"	"7332"	"0"	"c.7328_7332delAGAAG"	"r.(?)"	"p.(Glu2443GlyfsTer11)"	""
"0000735889"	"00000021"	"70"	"4028"	"0"	"4028"	"0"	"c.4028delA"	"r.(?)"	"p.(Lys1343ArgfsTer2)"	""
"0000735953"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000735954"	"00000021"	"70"	"4705"	"-1"	"4705"	"-1"	"c.4705-1G>T"	"r.spl"	"p.?"	""
"0000735955"	"00000021"	"70"	"2929"	"0"	"2929"	"0"	"c.2929A>G"	"r.(?)"	"p.(Arg977Gly)"	""
"0000735987"	"00000021"	"70"	"2691"	"0"	"2691"	"0"	"c.2691A>G"	"r.(?)"	"p.(Ile897Met)"	"25"
"0000735988"	"00000021"	"70"	"3517"	"0"	"3517"	"0"	"c.3517C>A"	"r.(?)"	"p.(Gln1173Lys)"	"30"
"0000736158"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666delA"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000736159"	"00000021"	"70"	"5226"	"5"	"5226"	"8"	"c.5226+5_5226+8del"	"r.spl?"	"p.?"	""
"0000736197"	"00000021"	"90"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	"33"
"0000736198"	"00000021"	"90"	"6640"	"0"	"6640"	"0"	"c.6640A>T"	"r.(?)"	"p.(Lys2214*)"	"48"
"0000736199"	"00000021"	"90"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	"14"
"0000736252"	"00000021"	"90"	"2390"	"0"	"2390"	"0"	"c.2390delA"	"r.(?)"	"p.(Lys797Serfs*2)"	"23"
"0000736253"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	"14"
"0000736254"	"00000021"	"90"	"164"	"0"	"167"	"0"	"c.164_167delCTCA"	"r.(?)"	"p.(Thr55Serfs*3)"	"3"
"0000736298"	"00000021"	"50"	"0"	"0"	"0"	"0"	"c.-344_(7186_?){2}"	"r.?"	"p.?"	""
"0000736299"	"00000021"	"30"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000736301"	"00000021"	"50"	"0"	"0"	"0"	"0"	"c.-344_(7186_?){2}"	"r.?"	"p.?"	""
"0000736302"	"00000021"	"30"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	""
"0000759723"	"00000021"	"50"	"6727"	"0"	"6727"	"0"	"c.6727G>C"	"r.(?)"	"p.(Glu2243Gln)"	""
"0000759724"	"00000021"	"50"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000759753"	"00000021"	"90"	"5788"	"0"	"5788"	"0"	"c.5788A>T"	"r.(?)"	"p.(Lys1930Ter)"	""
"0000759755"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759756"	"00000021"	"90"	"214"	"0"	"214"	"0"	"c.214G>T"	"r.(?)"	"p.(Glu72Ter)"	""
"0000759759"	"00000021"	"90"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.6270_6271inscuuucag"	"p.?"	""
"0000759760"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759763"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759773"	"00000021"	"90"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549Ter)"	""
"0000759778"	"00000021"	"90"	"5788"	"0"	"5788"	"0"	"c.5788A>T"	"r.(?)"	"p.(Lys1930Ter)"	""
"0000759781"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759783"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759785"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759796"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759803"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.?"	""
"0000759824"	"00000021"	"70"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Gln1026Ter)"	""
"0000759825"	"00000021"	"70"	"1909"	"7"	"1909"	"7"	"c.1909+7A>C"	"r.spl"	"p.?"	""
"0000759826"	"00000021"	"70"	"1909"	"7"	"1909"	"7"	"c.1909+7A>C"	"r.spl"	"p.?"	""
"0000759827"	"00000021"	"70"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	""
"0000759828"	"00000021"	"70"	"2569"	"0"	"2569"	"0"	"c.2569A>T"	"r.(?)"	"p.(Lys857Ter)"	""
"0000759858"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000759859"	"00000021"	"70"	"3249"	"0"	"3249"	"0"	"c.3249dup"	"r.(?)"	"p.(Arg1084ThrfsTer11)"	""
"0000759860"	"00000021"	"70"	"6787"	"0"	"6787"	"0"	"c.6787A>G"	"r.(?)"	"p.(Ser2263Gly)"	""
"0000759861"	"00000021"	"70"	"3097"	"0"	"3097"	"0"	"c.3097A>T"	"r.(?)"	"p.(Lys1033Ter)"	""
"0000759862"	"00000021"	"70"	"5324"	"0"	"5324"	"0"	"c.5324dup"	"r.(?)"	"p.(Asn1775LysfsTer7)"	""
"0000759863"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000759929"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000759930"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000759955"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000759956"	"00000021"	"90"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	""
"0000759983"	"00000021"	"50"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Arg1508*)"	""
"0000760170"	"00000021"	"70"	"4966"	"0"	"4967"	"0"	"c.4966_4967del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000760182"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000760188"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000760191"	"00000021"	"70"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	""
"0000760193"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000760211"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000760214"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000760215"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000760216"	"00000021"	"70"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360*)"	""
"0000760222"	"00000021"	"50"	"3181"	"0"	"3182"	"0"	"c.3181_3182del"	"r.(?)"	"p.(Met1061Alafs*8)"	""
"0000760226"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000760316"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000760401"	"00000021"	"50"	"297"	"1"	"297"	"1"	"c.297+1G>T"	"r.spl"	"p.?"	""
"0000760430"	"00000021"	"70"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	""
"0000760439"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000760440"	"00000021"	"50"	"1781"	"0"	"1781"	"0"	"c.1781T>A"	"r.(?)"	"p.(Leu594*)"	""
"0000760446"	"00000021"	"70"	"5182"	"0"	"5182"	"0"	"c.5182G>T"	"r.(?)"	"p.(Glu1728*)"	""
"0000760449"	"00000021"	"50"	"4801"	"0"	"4801"	"0"	"c.4801C>T"	"r.(?)"	"p.(Gln1601*)"	""
"0000760450"	"00000021"	"50"	"2052"	"1"	"2052"	"2"	"c.2052+1_2052+2del"	"r.spl"	"p.?"	""
"0000760451"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000760454"	"00000021"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151*)"	""
"0000760456"	"00000021"	"70"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	""
"0000760493"	"00000021"	"50"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000760601"	"00000021"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000760611"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465Ter)"	""
"0000760662"	"00000021"	"90"	"5254"	"0"	"5254"	"0"	"c.5254C>T"	"r.(?)"	"p.(Arg1752Trp)"	""
"0000763893"	"00000021"	"70"	"3309"	"0"	"3309"	"0"	"c.3309G>C"	"r.(?)"	"p.(Glu1103Asp)"	""
"0000763973"	"00000021"	"70"	"7323"	"0"	"7324"	"0"	"c.7323_7324insAGAAG"	"r.(?)"	"p.(Glu2442ArgfsTer6)"	""
"0000764924"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0000764929"	"00000021"	"70"	"3310"	"-1"	"3310"	"0"	"c.3310-1_3310delinsAA"	"r.spl"	"p.?"	""
"0000764944"	"00000021"	"70"	"5254"	"0"	"5254"	"0"	"c.5254C>T"	"r.(?)"	"p.(Arg1752Trp)"	""
"0000764947"	"00000021"	"70"	"5825"	"0"	"5825"	"0"	"c.5825A>C"	"r.(?)"	"p.(Gln1942Pro)"	""
"0000765489"	"00000021"	"70"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123Ter)"	""
"0000765504"	"00000021"	"70"	"2470"	"0"	"2470"	"0"	"c.2470A>G"	"r.(?)"	"p.(Lys824Glu)"	""
"0000765554"	"00000021"	"90"	"5409"	"0"	"5409"	"0"	"c.5409A>C"	"r.(?)"	"p.(Glu1803Asp)"	""
"0000765594"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	""
"0000765697"	"00000021"	"90"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000765698"	"00000021"	"90"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000765736"	"00000021"	"90"	"4195"	"-1"	"4195"	"-1"	"c.4195-1G>A"	"r.spl"	"p.?"	""
"0000765737"	"00000021"	"90"	"4195"	"-1"	"4195"	"-1"	"c.4195-1G>A"	"r.spl"	"p.?"	""
"0000765793"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890Ter)"	""
"0000783258"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998Ter)"	""
"0000783261"	"00000021"	"90"	"4929"	"0"	"4929"	"0"	"c.4929del"	"r.(?)"	"p.(Lys1643AsnfsTer2)"	""
"0000783432"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783433"	"00000021"	"90"	"6277"	"0"	"6277"	"0"	"c.6277del"	"r.(?)"	"p.(Val2093Serfs*4)"	""
"0000783434"	"00000021"	"90"	"1657"	"0"	"1657"	"0"	"c.1657del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000783435"	"00000021"	"90"	"1657"	"0"	"1657"	"0"	"c.1657del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000783436"	"00000021"	"90"	"5608"	"0"	"5611"	"0"	"c.5608_5611del"	"r.(?)"	"p.(Gln1871Valfs*2)"	""
"0000783437"	"00000021"	"90"	"1657"	"0"	"1657"	"0"	"c.1657dup"	"r.(?)"	"p.(Ile556Asnfs*20)"	""
"0000783438"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000783439"	"00000021"	"90"	"163"	"0"	"166"	"0"	"c.163_166del"	"r.(?)"	"p.(Thr55Serfs*3)"	""
"0000783440"	"00000021"	"90"	"4383"	"0"	"4383"	"0"	"c.4383del"	"r.(?)"	"p.(Glu1462Argfs*5)"	""
"0000783441"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000783442"	"00000021"	"90"	"2111"	"0"	"2111"	"0"	"c.2111del"	"r.(?)"	"p.(Val705Leufs*11)"	""
"0000783443"	"00000021"	"90"	"4448"	"0"	"4451"	"0"	"c.4448_4451del"	"r.(?)"	"p.(Lys1484Asnfs*4)"	""
"0000783444"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783445"	"00000021"	"90"	"1657"	"0"	"1657"	"0"	"c.1657del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000783446"	"00000021"	"90"	"3176"	"0"	"3176"	"0"	"c.3176del"	"r.(?)"	"p.(Ile1059Lysfs*6)"	""
"0000783447"	"00000021"	"90"	"3176"	"0"	"3176"	"0"	"c.3176del"	"r.(?)"	"p.(Ile1059Lysfs*6)"	""
"0000783448"	"00000021"	"90"	"3176"	"0"	"3176"	"0"	"c.3176del"	"r.(?)"	"p.(Ile1059Lysfs*6)"	""
"0000783449"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783450"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783451"	"00000021"	"90"	"654"	"0"	"654"	"0"	"c.654T>G"	"r.(?)"	"p.(Tyr218*)"	""
"0000783452"	"00000021"	"90"	"1623"	"1"	"1623"	"1"	"c.1623+1G>A"	"r.spl?"	"p.?"	""
"0000783453"	"00000021"	"90"	"4963"	"0"	"4964"	"0"	"c.4963_4964del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000783454"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783455"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783456"	"00000021"	"90"	"5704"	"0"	"5704"	"0"	"c.5704G>T"	"r.(?)"	"p.(Glu1902*)"	""
"0000783457"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000783458"	"00000021"	"90"	"6939"	"0"	"6939"	"0"	"c.6939C>A"	"r.(?)"	"p.(Tyr2313*)"	""
"0000783459"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783460"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783461"	"00000021"	"90"	"103"	"-1"	"103"	"-1"	"c.103-1G>T"	"r.spl?"	"p.?"	""
"0000783462"	"00000021"	"90"	"1657"	"0"	"1657"	"0"	"c.1657del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000783463"	"00000021"	"90"	"3168"	"0"	"3168"	"0"	"c.3168dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000783585"	"00000021"	"70"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Tyr2024*)"	""
"0000783586"	"00000021"	"70"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Tyr2024*)"	""
"0000783672"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	""
"0000783673"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	""
"0000783674"	"00000021"	"90"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Gln1302*)"	""
"0000783675"	"00000021"	"90"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Gln1302*)"	""
"0000783676"	"00000021"	"90"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	""
"0000783677"	"00000021"	"90"	"5344"	"0"	"5344"	"0"	"c.5344C>T"	"r.(?)"	"p.(Arg1782*)"	""
"0000783678"	"00000021"	"90"	"654"	"0"	"654"	"0"	"c.654T>G"	"r.(?)"	"p.(Tyr218*)"	""
"0000783679"	"00000021"	"90"	"5932"	"0"	"5932"	"0"	"c.5932C>T"	"r.(?)"	"p.(Arg1978*)"	""
"0000783680"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000783681"	"00000021"	"90"	"3185"	"0"	"3185"	"0"	"c.3185del"	"r.(?)"	"p.(Leu1062Argfs*3)"	""
"0000783682"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783683"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783684"	"00000021"	"90"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	""
"0000783685"	"00000021"	"90"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Arg1508*)"	""
"0000783686"	"00000021"	"90"	"1217"	"0"	"1218"	"0"	"c.1217_1218del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000783687"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783688"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000783757"	"00000021"	"70"	"2343"	"0"	"2343"	"0"	"c.2343T>C"	"r.(=)"	"p.(=)"	""
"0000783758"	"00000021"	"70"	"2343"	"0"	"2343"	"0"	"c.2343T>C"	"r.(=)"	"p.(=)"	""
"0000783786"	"00000021"	"90"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549Ter)"	""
"0000783801"	"00000021"	"90"	"6870"	"0"	"6870"	"0"	"c.6870del"	"r.(?)"	"p.(Gln2291LysfsTer10)"	""
"0000783802"	"00000021"	"90"	"2586"	"1"	"2586"	"1"	"c.2586+1G>A"	"r.spl"	"p.?"	""
"0000783803"	"00000021"	"90"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271Ter)"	""
"0000783804"	"00000021"	"90"	"7438"	"0"	"7438"	"0"	"c.7438T>C"	"r.(?)"	"p.(Ter2480GlnextTer16)"	""
"0000783805"	"00000021"	"90"	"6870"	"0"	"6870"	"0"	"c.6870del"	"r.(?)"	"p.(Gln2291LysfsTer10)"	""
"0000783806"	"00000021"	"90"	"1429"	"0"	"1429"	"0"	"c.1429C>T"	"r.(?)"	"p.(Arg477Ter)"	""
"0000783841"	"00000021"	"50"	"6012"	"-2"	"6012"	"-2"	"c.6012-2A>G"	"r.spl"	"p.?"	""
"0000783842"	"00000021"	"50"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549Ter)"	""
"0000783900"	"00000021"	"90"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000783904"	"00000021"	"90"	"5246"	"0"	"5246"	"0"	"c.5246T>G"	"r.(?)"	"p.(Leu1749Ter)"	""
"0000783905"	"00000021"	"90"	"2484"	"-2"	"2484"	"-2"	"c.2484-2A>G"	"r.spl"	"p.?"	""
"0000783906"	"00000021"	"90"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123Ter)"	""
"0000783907"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556PhefsTer17)"	""
"0000783908"	"00000021"	"90"	"6012"	"-2"	"6012"	"-2"	"c.6012-2A>G"	"r.spl"	"p.?"	""
"0000783909"	"00000021"	"90"	"4438"	"-1"	"4438"	"-1"	"c.4438-1G>A"	"r.spl"	"p.?"	""
"0000783935"	"00000021"	"50"	"6012"	"0"	"6012"	"0"	"c.6012G>C"	"r.(?)"	"p.(Arg2004Ser)"	""
"0000783936"	"00000021"	"50"	"1979"	"0"	"1979"	"0"	"c.1979A>T"	"r.(?)"	"p.(Glu660Val)"	""
"0000785417"	"00000021"	"50"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000785424"	"00000021"	"50"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000785426"	"00000021"	"50"	"6320"	"0"	"6320"	"0"	"c.6320A>G"	"r.(?)"	"p.(Lys2107Arg)"	""
"0000785441"	"00000021"	"50"	"6671"	"0"	"6671"	"0"	"c.6671G>A"	"r.(?)"	"p.(Arg2224Gln)"	""
"0000785969"	"00000021"	"55"	"5850"	"0"	"5850"	"0"	"c.5850delT"	"r.(?)"	"p.(Phe1950Leufs*15)"	"42"
"0000785970"	"00000021"	"99"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000785971"	"00000021"	"77"	"5850"	"0"	"5850"	"0"	"c.5850delT"	"r.(?)"	"p.(Phe1950Leufs*15)"	"42"
"0000785972"	"00000021"	"77"	"4963"	"0"	"4964"	"0"	"c.4963_4964delAG"	"r.(?)"	"p.(Glu1656Asnfs*3)"	"37"
"0000785973"	"00000021"	"99"	"103"	"-18"	"103"	"-13"	"c.103-18_103-13del"	"r.(=)"	"p.(=)"	"2i"
"0000785974"	"00000021"	"77"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751*)"	"22"
"0000785975"	"00000021"	"55"	"6869"	"0"	"6869"	"0"	"c.6869delA"	"r.(?)"	"p.(Asn2290Ilefs*11)"	"50"
"0000785976"	"00000021"	"77"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549*)"	"17"
"0000785977"	"00000021"	"55"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000785978"	"00000021"	"77"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000785979"	"00000021"	"55"	"4195"	"-1"	"4195"	"-1"	"c.4195-1G>A"	"r.spl?"	"p.?"	"32i"
"0000785980"	"00000021"	"77"	"3310"	"-1"	"3310"	"-1"	"c.3310-1G>C"	"r.spl?"	"p.?"	"28i"
"0000785981"	"00000021"	"55"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(=)"	"p.(=)"	"45i"
"0000785983"	"00000021"	"55"	"287"	"0"	"287"	"0"	"c.287del"	"r.(?)"	"p.(Asn96Metfs*29)"	"5"
"0000785985"	"00000021"	"55"	"287"	"0"	"287"	"0"	"c.287del"	"r.(?)"	"p.(Asn96Metfs*29)"	"5"
"0000785992"	"00000021"	"55"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	"10"
"0000785995"	"00000021"	"55"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	"39"
"0000786000"	"00000021"	"55"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	"10"
"0000786009"	"00000021"	"55"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	"24"
"0000786011"	"00000021"	"55"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	"20"
"0000786012"	"00000021"	"55"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	"24"
"0000786014"	"00000021"	"77"	"1361"	"0"	"1361"	"0"	"c.1361delG"	"r.(?)"	"p.(Gly454Glufs*5)"	"15"
"0000786015"	"00000021"	"77"	"6869"	"0"	"6869"	"0"	"c.6869delA"	"r.(?)"	"p.(Asn2290Ilefs*11)"	"50"
"0000786017"	"00000021"	"55"	"1991"	"0"	"1991"	"0"	"c.1991A>G"	"r.(?)"	"p.(Asp664Gly)"	"20"
"0000786018"	"00000021"	"55"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	"24"
"0000786019"	"00000021"	"55"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Lys838Glu)"	"24"
"0000786020"	"00000021"	"55"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	"39"
"0000786022"	"00000021"	"55"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	"10"
"0000786024"	"00000021"	"55"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	"10"
"0000786423"	"00000021"	"90"	"3125"	"0"	"3125"	"0"	"c.3125dup"	"r.(?)"	"p.(Ala1043GlyfsTer9)"	""
"0000786482"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000786518"	"00000021"	"70"	"3104"	"-2"	"3104"	"-2"	"c.3104-2del"	"r.spl"	"p.?"	""
"0000786520"	"00000021"	"70"	"4040"	"0"	"4040"	"0"	"c.4040G>A"	"r.(?)"	"p.(Trp1347Ter)"	""
"0000786785"	"00000021"	"90"	"2365"	"0"	"2365"	"0"	"c.2365C>T"	"r.(?)"	"p.(Gln789Ter)"	"22"
"0000786786"	"00000021"	"70"	"4219"	"0"	"4219"	"0"	"c.4219del"	"r.(?)"	"p.(Trp1407GlyfsTer12)"	"33"
"0000786787"	"00000021"	"70"	"4792"	"0"	"4792"	"0"	"c.4792A>T"	"r.(?)"	"p.(Lys1598Ter)"	"36"
"0000786788"	"00000021"	"70"	"5649"	"0"	"5649"	"0"	"c.5649del"	"r.(?)"	"p.(Lys1883AsnfsTer2)"	"41"
"0000786789"	"00000021"	"70"	"5766"	"0"	"5769"	"0"	"c.5766_5769del"	"r.(?)"	"p.(Ile1922MetfsTer7)"	"42"
"0000787230"	"00000021"	"50"	"1711"	"0"	"1711"	"0"	"c.1711G>A"	"r.(?)"	"p.(Gly571Arg)"	"17"
"0000787231"	"00000021"	"50"	"1711"	"0"	"1711"	"0"	"c.1711G>A"	"r.(?)"	"p.(Gly571Arg)"	"17"
"0000787232"	"00000021"	"50"	"1711"	"0"	"1711"	"0"	"c.1711G>A"	"r.(?)"	"p.(Gly571Arg)"	"17"
"0000787455"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890Ter)"	"41"
"0000787683"	"00000021"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Ter)"	""
"0000787727"	"00000021"	"70"	"4195"	"-1"	"4195"	"-1"	"c.4195-1G>C"	"r.(?)"	"p.?"	""
"0000788487"	"00000021"	"50"	"736"	"0"	"736"	"0"	"c.736T>C"	"r.(?)"	"p.(Ser246Pro)"	"10"
"0000789839"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000790400"	"00000021"	"70"	"2587"	"-2"	"2587"	"-2"	"c.2587-2A>G"	"r.spl"	"p.?"	""
"0000790401"	"00000021"	"70"	"297"	"1"	"297"	"1"	"c.297+1G>T"	"r.spl"	"p.?"	""
"0000790405"	"00000021"	"70"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360Ter)"	""
"0000790425"	"00000021"	"70"	"4834"	"0"	"4835"	"0"	"c.4834_4835del"	"r.(?)"	"p.(Thr1612SerfsTer13)"	""
"0000790451"	"00000021"	"50"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000790455"	"00000021"	"50"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0000790465"	"00000021"	"50"	"6851"	"0"	"6855"	"0"	"c.6851_6855del"	"r.(?)"	"p.(Thr2284AsnfsTer10)"	""
"0000790470"	"00000021"	"50"	"2433"	"0"	"2433"	"0"	"c.2433A>T"	"r.(?)"	"p.(Lys811Asn)"	""
"0000790484"	"00000021"	"50"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000790493"	"00000021"	"50"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000790507"	"00000021"	"50"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000790512"	"00000021"	"50"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000790547"	"00000021"	"50"	"4088"	"0"	"4088"	"0"	"c.4088G>A"	"r.(?)"	"p.(Arg1363Gln)"	""
"0000790557"	"00000021"	"50"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000790566"	"00000021"	"50"	"2615"	"0"	"2615"	"0"	"c.2615C>T"	"r.(?)"	"p.(Ser872Leu)"	""
"0000790574"	"00000021"	"50"	"1384"	"0"	"1384"	"0"	"c.1384G>A"	"r.(?)"	"p.(Val462Ile)"	""
"0000790576"	"00000021"	"50"	"2667"	"0"	"2667"	"0"	"c.2667G>T"	"r.(?)"	"p.(Leu889Phe)"	""
"0000790625"	"00000021"	"50"	"634"	"0"	"634"	"0"	"c.634A>T"	"r.(?)"	"p.(Asn212Tyr)"	""
"0000790644"	"00000021"	"50"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000790653"	"00000021"	"50"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000791125"	"00000021"	"90"	"7027"	"0"	"7027"	"0"	"c.7027del"	"r.(?)"	"p.(Val2343Phefs*4)"	"51"
"0000791160"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	"20"
"0000791165"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000791173"	"00000021"	"90"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	"37"
"0000791177"	"00000021"	"90"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000791237"	"00000021"	"90"	"250"	"2"	"250"	"2"	"c.250+2T>C"	"r.[=,250_251ins250+1_250+28, r.124_245del]"	"p.[=,Glu84Glyfs*10,Ser42Phefs*2]"	"4i"
"0000791247"	"00000021"	"50"	"223"	"0"	"223"	"0"	"c.223A>G"	"r.(?)"	"p.(Lys75Glu)"	"4"
"0000791248"	"00000021"	"70"	"185"	"0"	"185"	"0"	"c.185A>G"	"r.(?)"	"p.(Lys62Arg)"	"4"
"0000791251"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000791580"	"00000021"	"90"	"2390"	"0"	"2390"	"0"	"c.2390delA"	"r.(?)"	"p.(Lys797SerfsTer2)"	"23"
"0000791601"	"00000021"	"50"	"1345"	"0"	"1345"	"0"	"c.1345A>G"	"r.(?)"	"p.(Lys449Glu)"	"14"
"0000791606"	"00000021"	"50"	"5884"	"0"	"5884"	"0"	"c.5884A>T"	"r.(?)"	"p.(Arg1962Trp)"	"43"
"0000791611"	"00000021"	"90"	"6889"	"0"	"6889"	"0"	"c.6889A>T"	"r.(?)"	"p.(Lys2297Ter)"	"50"
"0000791757"	"00000021"	"70"	"5182"	"0"	"5182"	"0"	"c.5182G>T"	"r.(?)"	"p.(Glu1728*)"	""
"0000791758"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gly1628*)"	""
"0000791759"	"00000021"	"70"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu16556*)"	""
"0000791760"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000791761"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666dup"	"r.(?)"	"p.(Ile556Asnfs*20)"	"17"
"0000791762"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gly1628*)"	""
"0000791763"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000791845"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000791846"	"00000021"	"70"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Thr2024*)"	""
"0000791847"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000791848"	"00000021"	"70"	"1623"	"1"	"1623"	"1"	"c.1623+1G>A"	"r.(?)"	"p.(?)"	""
"0000791849"	"00000021"	"70"	"5344"	"0"	"5344"	"0"	"c.5344C>T"	"r.(?)"	"p.(Arg1782*)"	""
"0000791850"	"00000021"	"70"	"5611"	"0"	"5614"	"0"	"c.5611_5614del"	"r.(?)"	"p.(Gly1871Valfs*2)"	""
"0000791851"	"00000021"	"70"	"5013"	"-1"	"5364"	"1"	"c.(5012+1_5013-1)_(5364+1_5365-1)del"	"r.(?)"	"p.(?)"	""
"0000791884"	"00000021"	"70"	"6628"	"0"	"6628"	"0"	"c.6628C>T"	"r.(?)"	"p.(Arg2210Cys)"	""
"0000791947"	"00000021"	"90"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000791948"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850delT"	"r.(?)"	"p.(Phe1950Leufs*15)"	"42"
"0000791949"	"00000021"	"90"	"2915"	"0"	"2915"	"0"	"c.2915T>C"	"r.(?)"	"p.(Leu972Pro)"	"26"
"0000791950"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000791951"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000791952"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000791953"	"00000021"	"90"	"1189"	"0"	"1189"	"0"	"c.1189G>A"	"r.(?)"	"p.(Gly397Ser)"	"13"
"0000791954"	"00000021"	"90"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000791955"	"00000021"	"90"	"136"	"0"	"136"	"0"	"c.136G>T"	"r.(?)"	"p.(Glu46*)"	"3"
"0000791956"	"00000021"	"90"	"6277"	"0"	"6277"	"0"	"c.6277delG"	"r.(?)"	"p.(Val2093Serfs*4)"	"46"
"0000791957"	"00000021"	"90"	"5182"	"0"	"5182"	"0"	"c.5182G>T"	"r.(?)"	"p.(Glu1728*)"	"38"
"0000791958"	"00000021"	"90"	"5445"	"0"	"5448"	"0"	"c.5445_5448delAACT"	"r.(?)"	"p.(Thr1816Ilefs*3)"	"40"
"0000791959"	"00000021"	"90"	"5311"	"0"	"5311"	"0"	"c.5311G>T"	"r.(?)"	"p.(Glu1771*)"	"39"
"0000791960"	"00000021"	"90"	"1451"	"0"	"1451"	"0"	"c.1451delA"	"r.(?)"	"p.(Lys484Argfs*8)"	"15"
"0000792003"	"00000021"	"90"	"254"	"0"	"254"	"0"	"c.254A>C"	"r.(?)"	"p.(Asn85Thr)"	"5"
"0000792158"	"00000021"	"90"	"4897"	"0"	"4897"	"0"	"c.4897C>T"	"r.(?)"	"p.(Gln1633*)"	"37"
"0000792159"	"00000021"	"90"	"6766"	"0"	"6766"	"0"	"c.6766delC"	"r.(?)"	"p.(Pro2256Hisfs*24)"	"49"
"0000792172"	"00000021"	"90"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	"6"
"0000792189"	"00000021"	"10"	"6787"	"0"	"6787"	"0"	"c.6787A>G"	"r.(?)"	"p.(Ser2263Gly)"	"49"
"0000792204"	"00000021"	"50"	"2367"	"1"	"2367"	"1"	"c.2367+1G>T"	"r.spl?"	"p.?"	"22i"
"0000792339"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.(?)"	"p.(?)"	""
"0000792397"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl?"	"p.(?)"	""
"0000793980"	"00000021"	"90"	"4714"	"0"	"4714"	"0"	"c.4714G>T"	"r.(?)"	"p.(Glu1572*)"	"36"
"0000793988"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000793989"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000794018"	"00000021"	"90"	"7394"	"0"	"7395"	"0"	"c.7394_7395del"	"r.(?)"	"p.(Glu2465Valfs*2)"	"54"
"0000794019"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	"34"
"0000794040"	"00000021"	"70"	"1429"	"0"	"1429"	"0"	"c.1429C>T"	"r.(?)"	"p.(Arg477*)"	""
"0000794041"	"00000021"	"70"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000794072"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000794073"	"00000021"	"70"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.(=)"	"p.(=)"	""
"0000794145"	"00000021"	"70"	"1112"	"0"	"1112"	"0"	"c.1112T>C"	"r.(?)"	"p.(Val371Ala)"	""
"0000794205"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000794206"	"00000021"	"70"	"635"	"0"	"635"	"0"	"c.635dup"	"r.(?)"	"p.(Asn212Lysfs*3)"	""
"0000795955"	"00000021"	"70"	"3361"	"0"	"3361"	"0"	"c.3361G>T"	"r.(?)"	"p.(Glu1121*)"	"29"
"0000795956"	"00000021"	"70"	"7028"	"0"	"7034"	"3"	"c.7028_7034+3dup"	"r.spl?"	"p.?"	"51"
"0000795958"	"00000021"	"70"	"2817"	"2"	"2817"	"2"	"c.2817+2T>C"	"r.spl?"	"p.?"	"25i"
"0000795959"	"00000021"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"20"
"0000795962"	"00000021"	"70"	"3265"	"0"	"3265"	"0"	"c.3265C>T"	"r.(?)"	"p.(Gln1089*)"	"28"
"0000795963"	"00000021"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"23"
"0000795983"	"00000021"	"50"	"5127"	"0"	"5127"	"0"	"c.5127G>T"	"r.(?)"	"p.(Gln1709His)"	"38"
"0000795985"	"00000021"	"30"	"5127"	"0"	"5127"	"0"	"c.5127G>T"	"r.(?)"	"p.(Gln1709His)"	"38"
"0000795987"	"00000021"	"30"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	"53"
"0000795998"	"00000021"	"30"	"5246"	"0"	"5246"	"0"	"c.5246T>G"	"r.(?)"	"p.(Leu1749*)"	"39"
"0000796194"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796195"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000796196"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796197"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796198"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000796219"	"00000021"	"90"	"5344"	"0"	"5344"	"0"	"c.5344C>T"	"r.(?)"	"p.(Arg1782*)"	"39"
"0000796220"	"00000021"	"90"	"1667"	"0"	"1668"	"0"	"c.1667_1668insA"	"r.(?)"	"p.(Arg557Serfs*19)"	"17"
"0000796221"	"00000021"	"90"	"1260"	"0"	"1264"	"0"	"c.1260_1264del"	"r.(?)"	"p.(Lys421Glyfs*2)"	"14"
"0000796222"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796223"	"00000021"	"90"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000796224"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796225"	"00000021"	"90"	"547"	"0"	"550"	"0"	"c.547_550del"	"r.(?)"	"p.(Tyr183Argfs*4)"	"9"
"0000796226"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796227"	"00000021"	"90"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000796228"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796229"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	"14"
"0000796230"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000796231"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000796232"	"00000021"	"90"	"2052"	"1"	"2052"	"2"	"c.2052+1_2052+2del"	"r.spl?"	"p.?"	"20i"
"0000796669"	"00000021"	"90"	"3640"	"0"	"3640"	"0"	"c.3640dup"	"r.(?)"	"p.(Glu1214Glyfs*7)"	"31"
"0000796670"	"00000021"	"90"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	"48"
"0000796761"	"00000021"	"90"	"2578"	"0"	"2578"	"0"	"c.2578G>T"	"r.(?)"	"p.(Glu860*)"	"24"
"0000796762"	"00000021"	"90"	"3758"	"0"	"3758"	"0"	"c.3758G>A"	"r.(?)"	"p.(Arg1253His)"	"31"
"0000796763"	"00000021"	"70"	"5254"	"0"	"5254"	"0"	"c.5254C>T"	"r.(?)"	"p.(Arg1752Trp)"	"39"
"0000796788"	"00000021"	"90"	"6012"	"-2"	"6012"	"-2"	"c.6012-2A>G"	"r.spl?"	"p.?"	"43i"
"0000796789"	"00000021"	"90"	"6870"	"0"	"6870"	"0"	"c.6870del"	"r.(?)"	"p.(Gln2291Lysfs*10)"	"50"
"0000796864"	"00000021"	"70"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	"47"
"0000796868"	"00000021"	"70"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	"14"
"0000797094"	"00000021"	"90"	"982"	"0"	"982"	"0"	"c.982C>T"	"r.(?)"	"p.(Gln328*)"	"12"
"0000797164"	"00000021"	"50"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998*)"	"26i"
"0000797173"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000797560"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	""
"0000797561"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	""
"0000797562"	"00000021"	"70"	"6871"	"0"	"6871"	"0"	"c.6871C>T"	"r.(?)"	"p.(Gln2291*)"	""
"0000797563"	"00000021"	"70"	"180"	"1"	"180"	"1"	"c.180+1G>A"	"r.spl"	"p.(?)"	""
"0000797968"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	""
"0000797969"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000797970"	"00000021"	"50"	"503"	"0"	"503"	"0"	"c.503G>A"	"r.(?)"	"p.(Arg168His)"	""
"0000797971"	"00000021"	"50"	"2691"	"0"	"2691"	"0"	"c.2691A>G"	"r.(?)"	"p.(Ile897Met)"	""
"0000797972"	"00000021"	"70"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Arg908*)"	""
"0000798166"	"00000021"	"50"	"2691"	"0"	"2691"	"0"	"c.2691A>G"	"r.(?)"	"p.(Ile897Met)"	""
"0000798174"	"00000021"	"50"	"3517"	"0"	"3517"	"0"	"c.3517C>A"	"r.(?)"	"p.(Gln1173Lys)"	""
"0000798175"	"00000021"	"50"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	""
"0000798176"	"00000021"	"50"	"3104"	"-238"	"3104"	"-238"	"c.3104-238T>G"	"r.(?)"	"p.(?)"	""
"0000798490"	"00000021"	"90"	"4771"	"0"	"4771"	"0"	"c.4771C>T"	"r.(?)"	"p.(Gln1591*)"	"36"
"0000805963"	"00000021"	"10"	"5506"	"0"	"5506"	"0"	"c.5506A>G"	"r.(?)"	"p.(Ile1836Val)"	""
"0000805964"	"00000021"	"50"	"2857"	"0"	"2857"	"0"	"c.2857G>A"	"r.(?)"	"p.(Val953Ile)"	""
"0000805965"	"00000021"	"50"	"2279"	"0"	"2279"	"0"	"c.2279T>C"	"r.(?)"	"p.(Phe760Ser)"	""
"0000805966"	"00000021"	"50"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0000805967"	"00000021"	"30"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	""
"0000811079"	"00000021"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000811716"	"00000021"	"50"	"829"	"0"	"829"	"0"	"c.829G>C"	"c.829G>C"	"p.(Glu277Gln)"	"10"
"0000811858"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666dup"	"r.(?)"	"p.(Ile556Asnfs*20)"	""
"0000812316"	"00000021"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151*)"	"7"
"0000812335"	"00000021"	"70"	"4813"	"-2"	"4813"	"-2"	"c.4813-2A>G"	"r.(?)"	"p.(?)"	"36i"
"0000812492"	"00000021"	"70"	"7304"	"0"	"7304"	"0"	"c.7304T>G"	"r.(?)"	"p.(Val2435Gly)"	"54"
"0000812583"	"00000021"	"90"	"7328"	"0"	"7332"	"0"	"c.7328_7332dup"	"r.(?)"	"p.(Val2445Argfs*3)"	""
"0000812584"	"00000021"	"90"	"7328"	"0"	"7332"	"0"	"c.7328_7332dup"	"r.(?)"	"p.(Val2445Argfs*3)"	""
"0000812662"	"00000021"	"70"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	""
"0000812663"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000812724"	"00000021"	"70"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	""
"0000812725"	"00000021"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Gln1268*)"	""
"0000813258"	"00000021"	"50"	"6271"	"-113"	"6271"	"-113"	"c.6271-113T>C"	"r.(=)"	"p.(=)"	"45i"
"0000813272"	"00000021"	"50"	"6011"	"160"	"6011"	"160"	"c.6011+160G>A"	"r.(=)"	"p.(=)"	"43i"
"0000813282"	"00000021"	"50"	"2963"	"0"	"2963"	"0"	"c.2963A>C"	"r.(?)"	"p.(Gln988Pro)"	"26"
"0000813625"	"00000021"	"90"	"1189"	"2"	"1189"	"2"	"c.1189+2T>C"	"r.spl"	"p.(?)"	""
"0000813674"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666dup"	"r.(?)"	"p.(Ile556Asnfs*20)"	""
"0000813680"	"00000021"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Gln1268*)"	""
"0000813694"	"00000021"	"90"	"5587"	"-1"	"5709"	"1"	"c.5587-?_5709+?del"	"r.spl"	"p.(?)"	""
"0000813701"	"00000021"	"90"	"4438"	"-2"	"4438"	"-2"	"c.4438-2A>G"	"r.spl"	"p.(?)"	""
"0000813702"	"00000021"	"70"	"197"	"0"	"197"	"0"	"c.197T>G"	"r.(?)"	"p.(Val66Gly)"	""
"0000813704"	"00000021"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000813705"	"00000021"	"90"	"4438"	"-2"	"4438"	"-2"	"c.4438-2A>G"	"r.spl"	"p.(?)"	""
"0000813732"	"00000021"	"90"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	""
"0000813759"	"00000021"	"70"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	""
"0000813763"	"00000021"	"90"	"7332"	"0"	"7333"	"0"	"c.7332_7333insAGAAG"	"r.(?)"	"p.(Val2445Argfs*3)"	""
"0000813770"	"00000021"	"90"	"2191"	"0"	"2191"	"0"	"c.2191C>T"	"r.(?)"	"p.(Gln731*)"	""
"0000813773"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666dup"	"r.(?)"	"p.(Ile556Asnfs*20)"	""
"0000813774"	"00000021"	"90"	"5009"	"0"	"5012"	"0"	"c.5009_5012delTACA"	"r.(?)"	"p.(Leu1670Cysfs*10)"	""
"0000813775"	"00000021"	"90"	"559"	"0"	"559"	"0"	"c.559delA"	"r.(?)"	"p.(Ile187*)"	""
"0000813879"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000813880"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000813881"	"00000021"	"70"	"6277"	"0"	"6277"	"0"	"c.6277del"	"r.(?)"	"p.(Val2093Serfs*4)"	""
"0000813883"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000813993"	"00000021"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000815349"	"00000021"	"90"	"508"	"0"	"508"	"0"	"c.508A>T"	"r.(?)"	"p.(Lys170*)"	""
"0000815462"	"00000021"	"50"	"2135"	"0"	"2135"	"0"	"c.2135A>G"	"r.(?)"	"p.(Asn712Ser)"	""
"0000815473"	"00000021"	"50"	"3605"	"0"	"3605"	"0"	"c.3605A>G"	"r.(?)"	"p.(Lys1202Arg)"	""
"0000815594"	"00000021"	"50"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000815628"	"00000021"	"50"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0000815949"	"00000021"	"50"	"6135"	"4"	"6135"	"4"	"c.6135+4A>G"	"r.spl?"	"p.(?)"	""
"0000815958"	"00000021"	"50"	"158"	"0"	"158"	"0"	"c.158G>C"	"r.(?)"	"p.(Arg53Thr)"	""
"0000815966"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.(2991_2992ins[2991+1523_2991+1654])"	"p.(Cys998*)"	""
"0000816179"	"00000021"	"90"	"1514"	"0"	"1515"	"0"	"c.1514_1515del"	"r.(?)"	"p.(Glu505Alafs*5)"	""
"0000816255"	"00000021"	"50"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000816303"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	""
"0000816310"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000816317"	"00000021"	"90"	"6869"	"0"	"6869"	"0"	"c.6869dup"	"r.(?)"	"p.(Asn2290Lysfs*6)"	""
"0000816484"	"00000021"	"90"	"1514"	"0"	"1515"	"0"	"c.1514_1515del"	"r.(?)"	"p.(Glu505Alafs*5)"	""
"0000817357"	"00000021"	"70"	"6939"	"0"	"6939"	"0"	"c.6939C>A"	"r.(?)"	"p.(Tyr2313*)"	""
"0000817358"	"00000021"	"70"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000817359"	"00000021"	"70"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000817360"	"00000021"	"70"	"1711"	"1"	"1711"	"1"	"c.1711+1G>A"	"r.spl"	"p.(?)"	""
"0000817361"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817362"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817363"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817364"	"00000021"	"50"	"7394"	"0"	"7395"	"0"	"c.7394_7395del"	"r.(?)"	"p.(Glu2465Valfs*2)"	""
"0000817365"	"00000021"	"70"	"103"	"-1"	"103"	"-1"	"c.103-1G>T"	"r.spl"	"p.(?)"	""
"0000817366"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817367"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817368"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817369"	"00000021"	"70"	"5649"	"0"	"5649"	"0"	"c.5649del"	"r.(?)"	"p.(Lys1883Asnfs*2)"	""
"0000817370"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817372"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000817373"	"00000021"	"70"	"5445"	"0"	"5448"	"0"	"c.5445_5448del"	"r.(?)"	"p.(Thr1816Ilefs*3)"	""
"0000817517"	"00000021"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000817519"	"00000021"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Asn1049Lysfs*16)"	""
"0000817520"	"00000021"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Asn1049Lysfs*16)"	""
"0000817521"	"00000021"	"70"	"5012"	"5"	"5012"	"5"	"c.5012+5G>T"	"r.spl?"	"p.?"	"37i"
"0000817594"	"00000021"	"90"	"1975"	"0"	"1975"	"0"	"c.1975A>T"	"r.(?)"	"p.(Lys659*)"	"20"
"0000817595"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000818251"	"00000021"	"90"	"5611"	"0"	"5614"	"0"	"c.5611_5614del"	"r.(?)"	"p.(Gln1871Valfs*2)"	"41"
"0000818252"	"00000021"	"90"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000818273"	"00000021"	"90"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Tyr2024*)"	"44"
"0000818274"	"00000021"	"90"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000818287"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000818288"	"00000021"	"90"	"5356"	"0"	"5571"	"0"	"c.5356_5571del"	"r.(?)"	"p.(Glu1786_Leu1857del)"	"39_40"
"0000818296"	"00000021"	"90"	"1623"	"1"	"1623"	"1"	"c.1623+1G>A"	"r.spl?"	"p.?"	"16i"
"0000818297"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000818309"	"00000021"	"90"	"5182"	"0"	"5182"	"0"	"c.5182G>T"	"r.(?)"	"p.(Glu1728*)"	"38"
"0000818310"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000818362"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000818363"	"00000021"	"90"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	"37"
"0000818403"	"00000021"	"90"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Gln1302*)"	""
"0000818404"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000818405"	"00000021"	"90"	"1429"	"0"	"1429"	"0"	"c.1429C>T"	"r.(?)"	"p.(Arg477*)"	""
"0000818406"	"00000021"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108*)"	""
"0000818407"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000818408"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(Arg2004Serfs*7)"	""
"0000818409"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(Arg2004Serfs*7)"	""
"0000818410"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.0?"	"p.0?"	""
"0000818411"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(Arg2004Serfs*7)"	""
"0000818412"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000818413"	"00000021"	"90"	"6271"	"-1"	"6271"	"-1"	"c.6271-1G>A"	"r.spl"	"p.(?)"	""
"0000818414"	"00000021"	"90"	"3847"	"0"	"3847"	"0"	"c.3847C>T"	"r.(?)"	"p.(Gln1283*)"	""
"0000818470"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000818471"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.spl"	"p.(Arg2004Serfs*7)"	""
"0000818472"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.spl"	"p.(?)"	""
"0000818473"	"00000021"	"70"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Gln1302*)"	""
"0000818474"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000818475"	"00000021"	"50"	"-1"	"0"	"-1"	"0"	"c.-1G>A"	"r.spl"	"p.(?)"	""
"0000819079"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387delTAGA"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000819095"	"00000021"	"90"	"7341"	"0"	"7344"	"0"	"c.7341_7344dupACTT"	"r.(?)"	"p.(Ser2449Thrfs*8)"	""
"0000819446"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	""
"0000819447"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	""
"0000819451"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819484"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819540"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819541"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819561"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819601"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819622"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819629"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000819742"	"00000021"	"70"	"102"	"1"	"102"	"1"	"c.102+1G>T"	"r.spl"	"p.(?)"	""
"0000819743"	"00000021"	"70"	"102"	"1"	"102"	"1"	"c.102+1G>T"	"r.spl"	"p.(?)"	""
"0000819778"	"00000021"	"70"	"1645"	"0"	"1645"	"0"	"c.1645C>T"	"r.(?)"	"p.(Arg549*)"	""
"0000820185"	"00000021"	"70"	"2"	"0"	"2"	"0"	"c.2T>A"	"r.(?)"	"p.(Met1?)"	""
"0000820349"	"00000021"	"70"	"4029"	"1"	"4029"	"1"	"c.4029+1G>A"	"r.spl"	"p.(?)"	""
"0000820350"	"00000021"	"70"	"289"	"0"	"289"	"0"	"c.289G>T"	"r.(?)"	"p.(Glu97*)"	""
"0000820417"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000820455"	"00000021"	"70"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000820511"	"00000021"	"70"	"2682"	"0"	"2682"	"0"	"c.2682dup"	"r.(?)"	"p.(Ser895Ilefs*17)"	""
"0000820557"	"00000021"	"70"	"180"	"1"	"180"	"1"	"c.180+1G>A"	"r.spl"	"p.(?)"	""
"0000820650"	"00000021"	"70"	"3310"	"-1"	"3310"	"0"	"c.3310-1_3310delinsAA"	"r.spl"	"p.(?)"	""
"0000820651"	"00000021"	"70"	"3310"	"-1"	"3310"	"0"	"c.3310-1_3310delinsAA"	"r.spl"	"p.(?)"	""
"0000820653"	"00000021"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000820659"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	""
"0000820666"	"00000021"	"70"	"6964"	"0"	"6964"	"0"	"c.6964A>T"	"r.(?)"	"p.(Lys2322*)"	""
"0000820667"	"00000021"	"70"	"6964"	"0"	"6964"	"0"	"c.6964A>T"	"r.(?)"	"p.(Lys2322*)"	""
"0000820672"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.(?)"	"p.(?)"	""
"0000820683"	"00000021"	"70"	"5866"	"0"	"5866"	"0"	"c.5866G>T"	"r.(?)"	"p.(Glu1956*)"	""
"0000820684"	"00000021"	"70"	"7341"	"0"	"7341"	"0"	"c.7341dup"	"r.(?)"	"p.(Leu2448Thrfs*8)"	""
"0000820718"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000820836"	"00000021"	"70"	"3461"	"0"	"3461"	"0"	"c.3461dup"	"r.(?)"	"p.(Leu1155Thrfs*6)"	""
"0000820875"	"00000021"	"70"	"7048"	"0"	"7048"	"0"	"c.7048C>T"	"r.(?)"	"p.(Gln2350*)"	""
"0000820876"	"00000021"	"70"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000820907"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000820924"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	""
"0000820949"	"00000021"	"70"	"6646"	"-11"	"6646"	"-11"	"c.6646-11T>G"	"r.spl?"	"p.(?)"	""
"0000820975"	"00000021"	"70"	"43"	"0"	"43"	"0"	"c.43C>G"	"r.(?)"	"p.(Pro15Ala)"	""
"0000821000"	"00000021"	"50"	"6787"	"0"	"6787"	"0"	"c.6787A>G"	"r.(?)"	"p.(Ser2263Gly)"	""
"0000821004"	"00000021"	"50"	"5929"	"0"	"5929"	"0"	"c.5929A>G"	"r.(?)"	"p.(Ile1977Val)"	""
"0000821196"	"00000021"	"70"	"21"	"0"	"21"	"0"	"c.21G>T"	"r.(?)"	"p.(Trp7Cys)"	""
"0000821197"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000822085"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000822086"	"00000021"	"70"	"4961"	"0"	"4961"	"0"	"c.4961del"	"r.(?)"	"p.(Arg1655Glufs*6)"	"37"
"0000822087"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000822234"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000822235"	"00000021"	"70"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	"48"
"0000823233"	"00000021"	"50"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000823234"	"00000021"	"50"	"5803"	"0"	"5803"	"0"	"c.5803del"	"r.(?)"	"p.(Glu1935Lysfs*5)"	""
"0000823277"	"00000021"	"50"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000823278"	"00000021"	"50"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266*)"	""
"0000823312"	"00000021"	"90"	"508"	"0"	"508"	"0"	"c.508A>T"	"r.(?)"	"p.(Lys170*)"	""
"0000823313"	"00000021"	"50"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(?)"	"p.(?)"	""
"0000823314"	"00000021"	"50"	"4704"	"0"	"4704"	"0"	"c.4704G>C"	"r.(?)"	"p.(Glu1568Asp)"	""
"0000823315"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000823316"	"00000021"	"50"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(?)"	"p.(?)"	""
"0000823317"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000823318"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000823319"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000823320"	"00000021"	"50"	"6012"	"-12"	"6012"	"-12"	"c.6012-12T>A"	"r.(?)"	"p.(?)"	""
"0000823321"	"00000021"	"90"	"2052"	"1"	"2052"	"2"	"c.2052+1_2052+2del"	"r.spl"	"p.(?)"	""
"0000823322"	"00000021"	"50"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(?)"	"p.(?)"	""
"0000823323"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823324"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823325"	"00000021"	"50"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	""
"0000823326"	"00000021"	"90"	"881"	"0"	"881"	"0"	"c.881C>G"	"r.(?)"	"p.(Ser294*)"	""
"0000823327"	"00000021"	"50"	"5477"	"0"	"5477"	"0"	"c.5477T>C"	"r.(?)"	"p.(Leu1826Pro)"	""
"0000823328"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823329"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823330"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823331"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823332"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823333"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823334"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823335"	"00000021"	"50"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(?)"	"p.(?)"	""
"0000823336"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823430"	"00000021"	"90"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000823458"	"00000021"	"50"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(?)"	"p.(?)"	""
"0000823459"	"00000021"	"50"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.(?)"	"p.(?)"	""
"0000823460"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000823461"	"00000021"	"90"	"2052"	"1"	"2052"	"2"	"c.2052+1_2052+2del"	"r.spl"	"p.(?)"	""
"0000823465"	"00000021"	"90"	"353"	"0"	"354"	"0"	"c.353_354insGCAATTG"	"r.(?)"	"p.(Cys118Trpfs*6)"	""
"0000823466"	"00000021"	"50"	"2446"	"0"	"2446"	"0"	"c.2446C>T"	"r.(?)"	"p.(Arg816Cys)"	""
"0000823467"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823468"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823469"	"00000021"	"90"	"164"	"0"	"167"	"0"	"c.164_167del"	"r.(?)"	"p.(Thr55Serfs*3)"	""
"0000823470"	"00000021"	"90"	"164"	"0"	"167"	"0"	"c.164_167del"	"r.(?)"	"p.(Thr55Serfs*3)"	""
"0000823471"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000823472"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823473"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000823474"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823475"	"00000021"	"90"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.(?)"	"p.(Lys484Argfs*8)"	""
"0000823476"	"00000021"	"70"	"1623"	"2"	"1623"	"2"	"c.1623+2C>A"	"r.spl"	"p.(?)"	""
"0000823477"	"00000021"	"90"	"2695"	"0"	"2695"	"0"	"c.2695C>T"	"r.(?)"	"p.(Gln899*)"	""
"0000823478"	"00000021"	"90"	"1522"	"1"	"1522"	"1"	"c.1522+1G>C"	"r.spl"	"p.(?)"	""
"0000823479"	"00000021"	"90"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.(?)"	"p.(Lys484Argfs*8)"	""
"0000823480"	"00000021"	"90"	"1247"	"0"	"1247"	"0"	"c.1247T>G"	"r.(?)"	"p.(Leu416*)"	""
"0000823481"	"00000021"	"70"	"2737"	"0"	"2741"	"0"	"c.2737_2741del"	"r.(?)"	"p.(Glu913*)"	""
"0000823482"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823483"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000823484"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000823485"	"00000021"	"90"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Arg908*)"	""
"0000823486"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823487"	"00000021"	"90"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.(?)"	"p.(Lys484Argfs*8)"	""
"0000823526"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000823528"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823529"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823531"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823534"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823536"	"00000021"	"50"	"14"	"0"	"14"	"0"	"c.14T>C"	"r.(?)"	"p.(Ile5Thr)"	""
"0000823539"	"00000021"	"50"	"3911"	"0"	"3911"	"0"	"c.3911T>C"	"r.(?)"	"p.(Met1304Thr)"	""
"0000823541"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000823554"	"00000021"	"90"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Arg908*)"	""
"0000823555"	"00000021"	"90"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Arg908*)"	""
"0000823556"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000823557"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000824891"	"00000021"	"70"	"4657"	"0"	"4657"	"0"	"c.4657G>C"	"r.(?)"	"p.(Glu1553Gln)"	""
"0000826072"	"00000021"	"70"	"7328"	"0"	"7332"	"0"	"c.7328_7332dup"	"r.(?)"	"p.(Val2445Argfs*3)"	"54"
"0000826073"	"00000021"	"70"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(Gln123*)"	"6"
"0000826234"	"00000021"	"70"	"6012"	"-2"	"6012"	"-2"	"c.6012-2A>G"	"r.spl?"	"p.?"	"43i"
"0000826235"	"00000021"	"70"	"1834"	"0"	"1834"	"0"	"c.1834C>A"	"r.(?)"	"p.(Leu612Ile)"	"19"
"0000827007"	"00000021"	"90"	"774"	"0"	"774"	"0"	"c.774dupT"	"r.(?)"	"p.(Arg259*)"	""
"0000827194"	"00000021"	"90"	"2368"	"-1"	"2368"	"-1"	"c.2368-1G>A"	"r.spl?"	"p.?"	"22i"
"0000827195"	"00000021"	"70"	"223"	"0"	"223"	"0"	"c.223A>G"	"r.(?)"	"p.(Lys75Glu)"	"4"
"0000827196"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000828756"	"00000021"	"90"	"7333"	"0"	"7334"	"0"	"c.7333_7334insAGAAG"	"r.(?)"	"p.(Val2445Glufs*3)"	""
"0000828792"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266*)"	""
"0000828812"	"00000021"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Gln1268*)"	""
"0000828813"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000828814"	"00000021"	"90"	"4897"	"0"	"4897"	"0"	"c.4897C>T"	"r.(?)"	"p.(Gln1633*)"	""
"0000828832"	"00000021"	"90"	"6358"	"-1"	"6358"	"-1"	"c.6358-1G>A"	"r.spl"	"p.(?)"	"0"
"0000828897"	"00000021"	"90"	"6358"	"-1"	"6358"	"-1"	"c.6358-1G>A"	"r.spl"	"p.(?)"	""
"0000828961"	"00000021"	"90"	"1627"	"0"	"1627"	"0"	"c.1627G>T"	"r.(?)"	"p.(Glu543*)"	""
"0000828997"	"00000021"	"90"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000829017"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266*)"	""
"0000829018"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266*)"	""
"0000829019"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266*)"	""
"0000829429"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829430"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829431"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829435"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829438"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000829440"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829442"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829444"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	"26i"
"0000829462"	"00000021"	"70"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	"4"
"0000830883"	"00000021"	"70"	"4732"	"0"	"4732"	"0"	"c.4732G>T"	"r.(?)"	"p.(Glu1578*)"	"36"
"0000830884"	"00000021"	"70"	"4732"	"0"	"4732"	"0"	"c.4732G>T"	"r.(?)"	"p.(Glu1578*)"	"36"
"0000830885"	"00000021"	"70"	"4732"	"0"	"4732"	"0"	"c.4732G>T"	"r.(?)"	"p.(Glu1578*)"	"36"
"0000830886"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000830887"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000830888"	"00000021"	"70"	"5824"	"0"	"5824"	"0"	"c.5824C>T"	"r.(?)"	"p.(Gln1942*)"	"42"
"0000830889"	"00000021"	"70"	"5824"	"0"	"5824"	"0"	"c.5824C>T"	"r.(?)"	"p.(Gln1942*)"	"42"
"0000830890"	"00000021"	"70"	"3176"	"0"	"3176"	"0"	"c.3176del"	"r.(?)"	"p.(Ile1059Lysfs*6)"	"28"
"0000830892"	"00000021"	"70"	"2218"	"-1"	"2225"	"0"	"c.2218-1_2225del"	"r.(?)"	"p.?"	"23"
"0000830893"	"00000021"	"70"	"2218"	"-1"	"2225"	"0"	"c.2218-1_2225del"	"r.(?)"	"p.?"	"23"
"0000830894"	"00000021"	"70"	"4656"	"0"	"4656"	"0"	"c.4656delA"	"r.(?)"	"p.(Glu1553Lysfs*4)"	"36"
"0000830895"	"00000021"	"70"	"7341"	"0"	"7342"	"0"	"c.7341_7342insA"	"r.(?)"	"p.(Leu2448Thrfs*8)"	"55"
"0000830896"	"00000021"	"70"	"4771"	"0"	"4771"	"0"	"c.4771C>T"	"r.(?)"	"p.(Gln1591*)"	"37"
"0000830897"	"00000021"	"70"	"4771"	"0"	"4771"	"0"	"c.4771C>T"	"r.(?)"	"p.(Gln1591*)"	"37"
"0000830898"	"00000021"	"70"	"5515"	"0"	"5518"	"0"	"c.5515_5518delGAGA"	"r.(?)"	"p.(Glu1839Lysfs*11)"	"41"
"0000830899"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"42"
"0000830900"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"42"
"0000830901"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"42"
"0000830902"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"42"
"0000830903"	"00000021"	"70"	"6331"	"0"	"6331"	"0"	"c.6331C>T"	"r.(?)"	"p.(Gln2111*)"	"47"
"0000830904"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000830905"	"00000021"	"70"	"3175"	"0"	"3176"	"0"	"c.3175_3176insA"	"r.(?)"	"p.(Ile1059Asnfs*11)"	"29"
"0000830906"	"00000021"	"70"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"42"
"0000830928"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.2991_2992ins[2991+1523_2991+1654]"	"p.Cys998Ter"	"26i"
"0000830929"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.2991_2992ins[2991+1523_2991+1654]"	"p.Cys998Ter"	"26i"
"0000830930"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.2991_2992ins[2991+1523_2991+1654]"	"p.Cys998Ter"	"26i"
"0000830931"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.2991_2992ins[2991+1523_2991+1654]"	"p.Cys998Ter"	"26i"
"0000830932"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830933"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830934"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830935"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830936"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830937"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830938"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830939"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830940"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830941"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830942"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830943"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830944"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830945"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830946"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830947"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.(Cys998Ter)"	"26i"
"0000830948"	"00000021"	"90"	"2249"	"0"	"2249"	"0"	"c.2249T>G"	"r.(?)"	"p.(Leu750*)"	""
"0000830949"	"00000021"	"90"	"7341"	"0"	"7341"	"0"	"c.7341dupA"	"r.(?)"	"p.(Leu2448Thrfs*8)"	""
"0000830950"	"00000021"	"90"	"2118"	"0"	"2122"	"0"	"c.2118_2122dupTCAGC"	"r.(?)"	"p.(Thr709Serfs*9)"	""
"0000830951"	"00000021"	"90"	"5866"	"0"	"5866"	"0"	"c.5866G>T"	"r.(?)"	"p.(Glu1956*)"	""
"0000830952"	"00000021"	"90"	"3814"	"0"	"3814"	"0"	"c.3814C>T"	"r.(?)"	"p.(Arg1272*)"	""
"0000830953"	"00000021"	"90"	"679"	"0"	"680"	"0"	"c.679_680delGA"	"r.(?)"	"p.(Glu227Serfs*2)"	""
"0000830954"	"00000021"	"90"	"265"	"0"	"265"	"0"	"c.265dupA"	"r.(?)"	"p.(Thr89Asnfs*2)"	""
"0000830955"	"00000021"	"90"	"180"	"1"	"180"	"1"	"c.180+1G>T"	"r.(?)"	"p.?"	""
"0000830956"	"00000021"	"90"	"1550"	"0"	"1550"	"0"	"c.1550delT"	"r.(?)"	"p.(Leu517*)"	""
"0000830957"	"00000021"	"90"	"4115"	"0"	"4116"	"0"	"c.4115_4116delTA"	"r.(?)"	"p.(Ile1372Lysfs*5)"	""
"0000830958"	"00000021"	"90"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	""
"0000830959"	"00000021"	"90"	"5813"	"0"	"5817"	"0"	"c.5813_5817delCTTTA"	"r.(?)"	"p.(Thr1938Asnfs*16)"	""
"0000831003"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831004"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831005"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831006"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831007"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831008"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831009"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831010"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831011"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831012"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831013"	"00000021"	"70"	"1936"	"0"	"1936"	"0"	"c.1936C>T"	"r.spl"	"p.(Gln646*)"	"20"
"0000831014"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831015"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831016"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831017"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831018"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831019"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831020"	"00000021"	"70"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	"42"
"0000831021"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831022"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831023"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831024"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831025"	"00000021"	"70"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.Phe1950LeufsX14"	"42"
"0000831026"	"00000021"	"70"	"1593"	"0"	"1593"	"0"	"c.1593C>A"	"r.(?)"	"p.(Tyr531*)"	"16"
"0000831027"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831028"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831029"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831030"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831031"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831032"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831033"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831034"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831035"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831036"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831037"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26"
"0000831038"	"00000021"	"70"	"1711"	"5"	"1711"	"5"	"c.1711+5G>A"	"r.(?)"	"Splice"	"17i"
"0000831039"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831040"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831041"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831042"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831043"	"00000021"	"70"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*3)"	"37"
"0000831044"	"00000021"	"70"	"3292"	"0"	"3292"	"0"	"c.3292G>T"	"r.(?)"	"p.(Glu1098*)"	"28"
"0000831045"	"00000021"	"70"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	"38"
"0000831046"	"00000021"	"70"	"5226"	"1"	"5226"	"1"	"c.5226+1G>A"	"r.spl"	"p.(?)"	"38i"
"0000831047"	"00000021"	"70"	"5255"	"0"	"5256"	"0"	"c.5255_5256del"	"r.(?)"	"p.(Ala1753Argfs*7)"	"32"
"0000831048"	"00000021"	"70"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.spl"	"p.(Met407Glufs*14)"	"14"
"0000831049"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	"40i"
"0000831050"	"00000021"	"70"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	"48"
"0000831051"	"00000021"	"70"	"1910"	"-2"	"1910"	"-2"	"c.1910-2A>G"	"r.spl"	"Splice"	"19"
"0000831052"	"00000021"	"70"	"3922"	"0"	"3922"	"0"	"c.3922C>T"	"r.(?)"	"p.(Gln1308*)"	"31"
"0000831053"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	"35"
"0000831054"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	"40i"
"0000831055"	"00000021"	"70"	"1709"	"0"	"1709"	"0"	"c.1709C>G"	"r.(?)"	"p.(Ser570*)"	"17"
"0000831056"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000831057"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	"40i"
"0000831058"	"00000021"	"70"	"2"	"0"	"2"	"0"	"c.2T>A"	"r.(?)"	"p.Met1Lys"	"1"
"0000831059"	"00000021"	"70"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	"38"
"0000831060"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dupA"	"r.(?)"	"p.Ile1059AsnfsX10"	"28"
"0000831061"	"00000021"	"70"	"4028"	"0"	"4028"	"0"	"c.4028del"	"r.(?)"	"p.(Lys1343Argfs*2)"	"31"
"0000831062"	"00000021"	"70"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202Leufs*24)"	"48"
"0000831063"	"00000021"	"70"	"1855"	"0"	"1858"	"0"	"c.1855_1858del"	"r.(?)"	"p.(Arg621Ilefs*2)"	"19"
"0000831064"	"00000021"	"70"	"1992"	"0"	"1992"	"0"	"c.1992del"	"r.(?)"	"p.(Pro665Leufs*10)"	"20"
"0000831065"	"00000021"	"70"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	"6"
"0000831066"	"00000021"	"70"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	"38"
"0000831067"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	"40i"
"0000831068"	"00000021"	"70"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	"42"
"0000831081"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831082"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831083"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831084"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831085"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831086"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831087"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831088"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831092"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	""
"0000831093"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000831094"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000831095"	"00000021"	"70"	"1260"	"0"	"1264"	"0"	"c.1260_1264del"	"r.(?)"	"p.(Lys421Glyfs*2)"	""
"0000831132"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000831133"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	"34"
"0000831134"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	"34"
"0000831135"	"00000021"	"70"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	"40"
"0000831136"	"00000021"	"70"	"6870"	"0"	"6870"	"0"	"c.6870del"	"r.(?)"	"p.(Gln2291Lysfs*10)"	"50"
"0000831137"	"00000021"	"70"	"6870"	"0"	"6870"	"0"	"c.6870del"	"r.(?)"	"p.(Gln2291Lysfs*10)"	"50"
"0000831138"	"00000021"	"70"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	"38"
"0000831139"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000831140"	"00000021"	"70"	"4792"	"0"	"4795"	"0"	"c.4792_4795del"	"r.(?)"	"p.(Lys1598Serfs*8)"	"36"
"0000831141"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000831142"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000831143"	"00000021"	"70"	"5722"	"0"	"5722"	"0"	"c.5722G>T"	"r.(?)"	"p.(Glu1908*)"	"42"
"0000831144"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000831145"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000831146"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000831147"	"00000021"	"70"	"1683"	"0"	"1683"	"0"	"c.1683del"	"r.(?)"	"p.(Glu562Lysfs*11)"	"17"
"0000831148"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"37"
"0000831149"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000831150"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000831151"	"00000021"	"70"	"1985"	"0"	"1985"	"0"	"c.1985A>T"	"r.(?)"	"p.(Gln662Leu)"	"20"
"0000831152"	"00000021"	"70"	"5434"	"0"	"5435"	"0"	"c.5434_5435del"	"r.(?)"	"p.(Glu1812Lysfs*5)"	"40"
"0000831153"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	"28"
"0000831154"	"00000021"	"70"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Tyr2024*)"	"44"
"0000831155"	"00000021"	"70"	"6072"	"0"	"6072"	"0"	"c.6072C>A"	"r.(?)"	"p.(Tyr2024*)"	"44"
"0000831156"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	"34"
"0000831157"	"00000021"	"70"	"6031"	"0"	"6031"	"0"	"c.6031C>T"	"r.(?)"	"p.(Arg2011*)"	"44"
"0000831158"	"00000021"	"70"	"5611"	"0"	"5614"	"0"	"c.5611_5614del"	"r.(?)"	"p.(Gln1871Valfs*2)"	"41"
"0000831159"	"00000021"	"70"	"5611"	"0"	"5614"	"0"	"c.5611_5614del"	"r.(?)"	"p.(Gln1871Valfs*2)"	"41"
"0000831160"	"00000021"	"70"	"3814"	"0"	"3814"	"0"	"c.3814C>T"	"r.(?)"	"p.(Arg1272*)"	"31"
"0000831161"	"00000021"	"70"	"5941"	"0"	"5941"	"0"	"c.5941G>T"	"r.(?)"	"p.(Glu1981*)"	"43"
"0000831162"	"00000021"	"70"	"5734"	"0"	"5734"	"0"	"c.5734del"	"r.(?)"	"p.(Trp1912Glyfs*11)"	"42"
"0000831163"	"00000021"	"70"	"5734"	"0"	"5734"	"0"	"c.5734del"	"r.(?)"	"p.(Trp1912Glyfs*11)"	"42"
"0000831164"	"00000021"	"70"	"6277"	"0"	"6277"	"0"	"c.6277del"	"r.(?)"	"p.(Val2093Serfs*4)"	"46"
"0000831165"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000831166"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000831167"	"00000021"	"70"	"7318"	"0"	"7321"	"0"	"c.7318_7321dup"	"r.(?)"	"p.(Leu2441Serfs*16)"	"54"
"0000831168"	"00000021"	"70"	"7318"	"0"	"7321"	"0"	"c.7318_7321dup"	"r.(?)"	"p.(Leu2441Serfs*16)"	"54"
"0000831169"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	"36"
"0000831179"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000831180"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	"31"
"0000831181"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	"38"
"0000831182"	"00000021"	"70"	"1066"	"-1"	"1066"	"-1"	"c.1066-1G>A"	"r.spl"	"p.(?)"	"13"
"0000831183"	"00000021"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.0?"	"p.(Met1?)"	"2"
"0000831184"	"00000021"	"70"	"2249"	"0"	"2249"	"0"	"c.2249T>G"	"r.(?)"	"p.(Leu750*)"	"23"
"0000831185"	"00000021"	"70"	"164"	"0"	"167"	"0"	"c.164_167del"	"r.(?)"	"p.(Thr55Serfs*3)"	"3"
"0000831186"	"00000021"	"70"	"3104"	"-2"	"3104"	"-2"	"c.3104-2A>G"	"r.spl"	"p.(?)"	"29"
"0000831187"	"00000021"	"70"	"5932"	"0"	"5932"	"0"	"c.5932C>T"	"r.(?)"	"p.(Arg1978*)"	"44"
"0000831188"	"00000021"	"70"	"5734"	"0"	"5734"	"0"	"c.5734del"	"r.(?)"	"p.(Trp1912Glyfs*11)"	"43"
"0000831189"	"00000021"	"70"	"5734"	"0"	"5734"	"0"	"c.5734del"	"r.(?)"	"p.(Trp1912Glyfs*11)"	"43"
"0000831190"	"00000021"	"70"	"5941"	"0"	"5941"	"0"	"c.5941G>T"	"r.(?)"	"p.(Glu1981*)"	"44"
"0000831191"	"00000021"	"70"	"5163"	"0"	"5163"	"0"	"c.5163del"	"r.(?)"	"p.(Thr1722Glnfs*2)"	"39"
"0000831192"	"00000021"	"70"	"1419"	"0"	"1423"	"0"	"c.1419_1423del"	"r.(?)"	"p.(Ile474Argfs*5)"	"15"
"0000831195"	"00000021"	"70"	"1512"	"0"	"1515"	"0"	"c.1512_1515del"	"r.(?)"	"p.(Arg504Serfs*10)"	""
"0000831215"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831216"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831217"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831218"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831219"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831220"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831221"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	"26i"
"0000831222"	"00000021"	"70"	"4028"	"0"	"4028"	"0"	"c.4028del"	"r.(?)"	"p.(Lys1343Argfs*2)"	""
"0000831223"	"00000021"	"70"	"3922"	"0"	"3922"	"0"	"c.3922C>T"	"r.(?)"	"p.(Gln1308*)"	""
"0000831224"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	""
"0000831225"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.(?)"	""
"0000831226"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000831227"	"00000021"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000831228"	"00000021"	"90"	"5666"	"0"	"5666"	"0"	"c.5666delA"	"r.(?)"	"p.(Glu1889Glyfs*7"	"41"
"0000831229"	"00000021"	"90"	"5666"	"0"	"5666"	"0"	"c.5666delA"	"r.(?)"	"p.(Glu1889Glyfs*7"	"41"
"0000831230"	"00000021"	"90"	"5666"	"0"	"5666"	"0"	"c.5666delA"	"r.(?)"	"p.(Glu1889Glyfs*7"	"41"
"0000831237"	"00000021"	"90"	"7323"	"0"	"7327"	"0"	"c.7323_7327delAGAAG"	"r.(?)"	"p.(Glu2443Glyfs*11)"	"54"
"0000831238"	"00000021"	"90"	"6012"	"-2"	"6012"	"-2"	"c.6012-2A>G"	"r.(?)"	"p.?"	"43i"
"0000831401"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000831449"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831450"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831451"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831452"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831453"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000831454"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000831455"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000831456"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000831457"	"00000021"	"70"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465*)"	""
"0000831458"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831459"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831460"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831461"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831462"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831463"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831464"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831465"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831466"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831467"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831468"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831469"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831470"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831471"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831472"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000831473"	"00000021"	"70"	"1681"	"0"	"1681"	"0"	"c.1681C>T"	"r.(?)"	"p.(Gln561*)"	""
"0000831474"	"00000021"	"70"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	""
"0000831475"	"00000021"	"70"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	""
"0000831476"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831477"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831478"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831479"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dupA"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000831480"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831481"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831482"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831483"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000831484"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663delAAG"	"r.(?)"	"p.(1554delGlu)"	""
"0000831485"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663delAAG"	"r.(?)"	"p.(1554delGlu)"	""
"0000831486"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663delAAG"	"r.(?)"	"p.(1554delGlu)"	""
"0000831487"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831488"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831489"	"00000021"	"50"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000831490"	"00000021"	"70"	"1163"	"0"	"1163"	"0"	"c.1163T>A"	"r.(?)"	"p.(Leu388*)"	""
"0000831491"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000831492"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000831493"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000831494"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000831495"	"00000021"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(His50Tyr)"	""
"0000831496"	"00000021"	"70"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	""
"0000831497"	"00000021"	"70"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Glu238*)"	""
"0000831498"	"00000021"	"70"	"6277"	"0"	"6277"	"0"	"c.6277delG"	"r.(?)"	"p.(Val2093fs)"	""
"0000831499"	"00000021"	"70"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	""
"0000831500"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dupA"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000831501"	"00000021"	"70"	"6079"	"0"	"6079"	"0"	"c.6079delG"	"r.(?)"	"p.(Glu2027Lysfs*5)"	""
"0000831502"	"00000021"	"70"	"1781"	"0"	"1781"	"0"	"c.1781T>A"	"r.(?)"	"p.(Leu594*)"	""
"0000831503"	"00000021"	"70"	"384"	"0"	"387"	"0"	"c.384_387delTAGA"	"r.(?)"	"p.(Asp128Glufs*34)"	""
"0000831504"	"00000021"	"70"	"1066"	"-1"	"1066"	"-1"	"c.1066-1G>A"	"r.spl"	"splice"	""
"0000831505"	"00000021"	"70"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	""
"0000831506"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831507"	"00000021"	"70"	"7027"	"0"	"7027"	"0"	"c.7027delG"	"r.(?)"	"p.(Val2343Phefs*4)"	""
"0000831508"	"00000021"	"70"	"4966"	"0"	"4967"	"0"	"c.4966_4967delGA"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000831509"	"00000021"	"70"	"4966"	"0"	"4967"	"0"	"c.4966_4967delGA"	"r.(?)"	"p.(Glu1656Asnfs*3)"	""
"0000831510"	"00000021"	"70"	"381"	"0"	"382"	"0"	"c.381_382delinsT"	"r.(?)"	"p.(Lys127Asnfs36*)"	""
"0000831511"	"00000021"	"70"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*13)"	""
"0000831512"	"00000021"	"70"	"7048"	"0"	"7048"	"0"	"c.7048C>T"	"r.(?)"	"p.(Gln2350*)"	""
"0000831513"	"00000021"	"70"	"4966"	"0"	"4966"	"0"	"c.4966G>T"	"r.(?)"	"p.(Glu1656*)"	""
"0000831514"	"00000021"	"70"	"5941"	"0"	"5941"	"0"	"c.5941G>T"	"r.(?)"	"p.(Glu1981*)"	""
"0000831515"	"00000021"	"70"	"4801"	"0"	"4801"	"0"	"c.4801C>T"	"r.(?)"	"p.(Gln1601*)"	""
"0000831516"	"00000021"	"70"	"270"	"0"	"274"	"0"	"c.270_274delAGTAA"	"r.(?)"	"p.(Lys90Asnfs*6)"	""
"0000831517"	"00000021"	"70"	"3175"	"0"	"3175"	"0"	"c.3175dupA"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000831632"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.spl"	"p.(Ile556Phefs*17)"	""
"0000831633"	"00000021"	"90"	"508"	"0"	"508"	"0"	"c.508A>T"	"r.spl"	"p.(Lys170*)"	""
"0000831634"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831635"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831636"	"00000021"	"90"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.spl"	"p.(Arg205*)"	""
"0000831637"	"00000021"	"90"	"4090"	"0"	"4090"	"0"	"c.4090G>T"	"r.spl"	"p.(Glu1364*)"	""
"0000831833"	"00000021"	"90"	"5704"	"0"	"5704"	"0"	"c.5704G>T"	"r.(?)"	"p.(Glu1902*)"	""
"0000831834"	"00000021"	"90"	"5704"	"0"	"5704"	"0"	"c.5704G>T"	"r.(?)"	"p.(Glu1902*)"	""
"0000831835"	"00000021"	"90"	"5704"	"0"	"5704"	"0"	"c.5704G>T"	"r.(?)"	"p.(Glu1902*)"	""
"0000831955"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831956"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831957"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831958"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831959"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831960"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831961"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831962"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831963"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831964"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831965"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831966"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831967"	"00000021"	"90"	"2291"	"1655"	"2291"	"1655"	"c.2291+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831968"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831969"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831970"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831971"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831972"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831973"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831974"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000831975"	"00000021"	"70"	"5493"	"0"	"5493"	"0"	"c.5493delA"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000831976"	"00000021"	"70"	"4029"	"1"	"4029"	"1"	"c.4029+1G>A"	"r.spl"	"p. (?)"	""
"0000831977"	"00000021"	"70"	"289"	"0"	"289"	"0"	"c.289G>T"	"r.(?)"	"p.(Glu97*)"	""
"0000831978"	"00000021"	"70"	"1936"	"0"	"1936"	"0"	"c.1936C>T"	"r.(?)"	"p.(Gln646*)"	""
"0000831979"	"00000021"	"70"	"3310"	"-1"	"3310"	"-1"	"c.3310-1G>C"	"r.spl"	"p. (?)"	""
"0000831980"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	""
"0000831981"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p. (?)"	""
"0000831982"	"00000021"	"70"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000831983"	"00000021"	"70"	"5866"	"0"	"5866"	"0"	"c.5866G>T"	"r.(?)"	"p.(Glu1956*)"	""
"0000831984"	"00000021"	"70"	"7341"	"0"	"7341"	"0"	"c.7341dupA"	"r.(?)"	"p.(Leu2448Thrfs*8)"	""
"0000831985"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p. (?)"	""
"0000831986"	"00000021"	"70"	"3811"	"0"	"3811"	"0"	"c.3811C>T"	"r.(?)"	"p.(Arg1271*)"	""
"0000831987"	"00000021"	"70"	"256"	"0"	"256"	"0"	"c.256delC"	"r.(?)"	"p.(Gln86Asnfs*2)"	""
"0000831988"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000831989"	"00000021"	"70"	"6964"	"0"	"6964"	"0"	"c.6964A>T"	"r.(?)"	"p.(Lys2322*)"	""
"0000831990"	"00000021"	"70"	"6964"	"0"	"6964"	"0"	"c.6964A>T"	"r.(?)"	"p.(Lys2322*)"	""
"0000831991"	"00000021"	"70"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p. (?)"	""
"0000831992"	"00000021"	"70"	"7048"	"0"	"7048"	"0"	"c.7048C>T"	"r.(?)"	"p.(Gln2350*)"	""
"0000831993"	"00000021"	"70"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000831994"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266*)"	""
"0000831995"	"00000021"	"50"	"2174"	"0"	"2174"	"0"	"c.2174A>C"	"r.(?)"	"p.(Glu725Ala)"	""
"0000838424"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000839889"	"00000021"	"50"	"4237"	"0"	"4237"	"0"	"c.4237G>C"	"r.(?)"	"p.(Asp1413His)"	""
"0000844338"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844339"	"00000021"	"70"	"5777"	"0"	"5777"	"0"	"c.5777G>C"	"r.(?)"	"p.(Arg1926Pro)"	""
"0000844340"	"00000021"	"70"	"6277"	"0"	"6277"	"0"	"c.6277del"	"r.(?)"	"p.(Val2093Serfs*4)"	""
"0000844341"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844342"	"00000021"	"70"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Glu277Gln)"	""
"0000844343"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844344"	"00000021"	"70"	"1429"	"0"	"1429"	"0"	"c.1429C>T"	"r.(?)"	"p.(Arg447*)"	""
"0000844345"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844346"	"00000021"	"70"	"3178"	"0"	"3178"	"0"	"c.3178del"	"r.(?)"	"p.(Thr1060Leufs*5)"	""
"0000844347"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844348"	"00000021"	"70"	"4452"	"0"	"4455"	"0"	"c.4452_4455del"	"r.(?)"	"p.(Glu1484Leufs*3)"	""
"0000844349"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844350"	"00000021"	"70"	"1236"	"0"	"1236"	"0"	"c.1236del"	"r.(?)"	"p.(Leu412*)"	""
"0000844351"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844352"	"00000021"	"70"	"1066"	"-1"	"1066"	"-1"	"c.1066-1G>A"	"r.spl"	"p.(?)"	""
"0000844353"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844354"	"00000021"	"70"	"1830"	"0"	"1830"	"0"	"c.1830del"	"r.(?)"	"p.(Leu611Phefs*5)"	""
"0000844355"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844356"	"00000021"	"70"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1831Profs*19)"	""
"0000844357"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844358"	"00000021"	"70"	"5813"	"0"	"5817"	"0"	"c.5813_5817del"	"r.(?)"	"p.(Thr1938Aspfs*16)"	""
"0000844359"	"00000021"	"70"	"2213"	"0"	"2213"	"0"	"c.2213del"	"r.(?)"	"p.(Leu738*)"	""
"0000844360"	"00000021"	"70"	"4438"	"-3"	"4438"	"-3"	"c.4438-3del"	"r.spl?"	"p.(?)"	""
"0000844361"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844362"	"00000021"	"70"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1655Asnfs*3)"	""
"0000844363"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844364"	"00000021"	"70"	"4882"	"0"	"4882"	"0"	"c.4882C>T"	"r.(?)"	"p.(Gln1628*)"	""
"0000844365"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844366"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844367"	"00000021"	"70"	"2506"	"0"	"2507"	"0"	"c.2506_2507del"	"r.(?)"	"p.(Gly836Ilefs*2)"	""
"0000844368"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844369"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844370"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844389"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844390"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844391"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844392"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844393"	"00000021"	"70"	"4438"	"-3"	"4438"	"-3"	"c.4438-3del"	"r.spl?"	"p.(?)"	""
"0000844394"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844395"	"00000021"	"90"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000844399"	"00000021"	"70"	"4962"	"0"	"4963"	"0"	"c.4962_4963del"	"r.(?)"	"p.(Glu1656Asnfs*)"	""
"0000844400"	"00000021"	"70"	"5776"	"0"	"5776"	"0"	"c.5776C>T"	"r.(?)"	"p.(Arg1926Ter)"	""
"0000845824"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000845825"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000845826"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000845827"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000845828"	"00000021"	"70"	"3175"	"0"	"3176"	"0"	"c.3175_3176insA"	"r.(?)"	"p.(Ile1059Asnfs*11)"	""
"0000845829"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(Cys998*)"	""
"0000845835"	"00000021"	"70"	"289"	"0"	"289"	"0"	"c.289G>T"	"r.(?)"	"p.(Glu97*)"	""
"0000845836"	"00000021"	"70"	"1550"	"0"	"1550"	"0"	"c.1550delT"	"r.(?)"	"p.(Leu517*)"	""
"0000845837"	"00000021"	"70"	"5493"	"0"	"5493"	"0"	"c.5493delA"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000845838"	"00000021"	"70"	"5493"	"0"	"5493"	"0"	"c.5493delA"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000845839"	"00000021"	"70"	"7341"	"0"	"7342"	"0"	"c.7341_7342insA"	"r.(?)"	"p.(Leu2448Thrfs*8)"	""
"0000845840"	"00000021"	"70"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575*)"	""
"0000845906"	"00000021"	"70"	"5237"	"0"	"5237"	"0"	"c.5237G>A"	"r.(?)"	"p.(Arg1746Gln)"	""
"0000845927"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666delA"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000845928"	"00000021"	"90"	"6012"	"-12"	"6012"	"-12"	"c.6012-12A>T"	"r.spl?"	"p.(?)"	""
"0000846875"	"00000021"	"70"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	""
"0000846927"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.(?)"	""
"0000847313"	"00000021"	"90"	"4714"	"0"	"4714"	"0"	"c.4714G>T"	"r.(?)"	"p.(Glu1572*)"	""
"0000847322"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000847323"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	""
"0000853539"	"00000021"	"30"	"5322"	"0"	"5322"	"0"	"c.5322C>T"	"r.(?)"	"p.(Leu1774=)"	""
"0000853540"	"00000021"	"90"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Arg1508Ter)"	""
"0000853541"	"00000021"	"50"	"3410"	"0"	"3410"	"0"	"c.3410G>A"	"r.(?)"	"p.(Arg1137Gln)"	""
"0000853542"	"00000021"	"30"	"1712"	"-6"	"1712"	"-6"	"c.1712-6A>G"	"r.(=)"	"p.(=)"	""
"0000863145"	"00000021"	"30"	"6960"	"1"	"6960"	"1"	"c.6960+1del"	"r.spl?"	"p.?"	""
"0000863146"	"00000021"	"50"	"5971"	"0"	"5971"	"0"	"c.5971A>G"	"r.(?)"	"p.(Lys1991Glu)"	""
"0000863147"	"00000021"	"50"	"5926"	"0"	"5926"	"0"	"c.5926G>C"	"r.(?)"	"p.(Gly1976Arg)"	""
"0000863148"	"00000021"	"50"	"2615"	"0"	"2615"	"0"	"c.2615C>T"	"r.(?)"	"p.(Ser872Leu)"	""
"0000863149"	"00000021"	"90"	"2390"	"0"	"2390"	"0"	"c.2390del"	"r.(?)"	"p.(Lys797SerfsTer2)"	""
"0000863150"	"00000021"	"50"	"2090"	"0"	"2090"	"0"	"c.2090C>G"	"r.(?)"	"p.(Ala697Gly)"	""
"0000863151"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407GlufsTer14)"	""
"0000880203"	"00000021"	"70"	"5955"	"0"	"5955"	"0"	"c.5955A>C"	"r.(?)"	"p.(Glu1985Asp)"	""
"0000890810"	"00000021"	"30"	"7386"	"0"	"7386"	"0"	"c.7386T>C"	"r.(?)"	"p.(Ala2462=)"	""
"0000890811"	"00000021"	"30"	"7365"	"0"	"7365"	"0"	"c.7365A>G"	"r.(?)"	"p.(Glu2455=)"	""
"0000890812"	"00000021"	"50"	"7321"	"0"	"7321"	"0"	"c.7321T>A"	"r.(?)"	"p.(Leu2441Ile)"	""
"0000890813"	"00000021"	"50"	"7276"	"0"	"7276"	"0"	"c.7276G>A"	"r.(?)"	"p.(Asp2426Asn)"	""
"0000890814"	"00000021"	"30"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	""
"0000890815"	"00000021"	"50"	"7015"	"0"	"7015"	"0"	"c.7015C>T"	"r.(?)"	"p.(Arg2339Trp)"	""
"0000890816"	"00000021"	"30"	"6134"	"0"	"6134"	"0"	"c.6134C>T"	"r.(?)"	"p.(Ser2045Leu)"	""
"0000890817"	"00000021"	"50"	"6025"	"0"	"6025"	"0"	"c.6025C>T"	"r.(?)"	"p.(Leu2009Phe)"	""
"0000890818"	"00000021"	"70"	"5855"	"5"	"5855"	"5"	"c.5855+5G>A"	"r.spl?"	"p.?"	""
"0000890819"	"00000021"	"30"	"5255"	"0"	"5255"	"0"	"c.5255G>A"	"r.(?)"	"p.(Arg1752Gln)"	""
"0000890820"	"00000021"	"30"	"5199"	"0"	"5199"	"0"	"c.5199A>G"	"r.(?)"	"p.(Gln1733=)"	""
"0000890821"	"00000021"	"30"	"4806"	"0"	"4806"	"0"	"c.4806G>A"	"r.(?)"	"p.(Thr1602=)"	""
"0000890822"	"00000021"	"90"	"3777"	"0"	"3778"	"0"	"c.3777_3778del"	"r.(?)"	"p.(Arg1259Serfs*16)"	""
"0000890823"	"00000021"	"10"	"3465"	"0"	"3465"	"0"	"c.3465G>A"	"r.(?)"	"p.(Leu1155=)"	""
"0000890824"	"00000021"	"30"	"1716"	"0"	"1716"	"0"	"c.1716A>G"	"r.(?)"	"p.(Leu572=)"	""
"0000890825"	"00000021"	"70"	"1711"	"1"	"1711"	"1"	"c.1711+1G>T"	"r.spl?"	"p.?"	""
"0000890826"	"00000021"	"30"	"650"	"0"	"650"	"0"	"c.650A>G"	"r.(?)"	"p.(Gln217Arg)"	""
"0000896442"	"00000021"	"90"	"4897"	"0"	"4897"	"0"	"c.4897C>T"	"r.(?)"	"p.(Gln1633Ter)"	""
"0000896443"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266Ter)"	""
"0000896464"	"00000021"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Gln1268Ter)"	""
"0000896465"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266Ter)"	""
"0000896522"	"00000021"	"90"	"6358"	"-1"	"6358"	"-1"	"c.6358-1G>A"	"r.spl"	"p.?"	""
"0000896545"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666delA"	"r.(?)"	"p.(Ile556PhefsTer17)"	""
"0000896546"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266Ter)"	""
"0000896637"	"00000021"	"90"	"6798"	"0"	"6798"	"0"	"c.6798G>A"	"r.(?)"	"p.(Trp2266Ter)"	""
"0000896638"	"00000021"	"90"	"4962"	"0"	"4963"	"0"	"c.4962_4963delAA"	"r.(?)"	"p.(Glu1656AsnfsTer3)"	""
"0000896689"	"00000021"	"90"	"7333"	"0"	"7334"	"0"	"c.7333_7334insAGAAG"	"r.(?)"	"p.(Val2445GlufsTer3)"	""
"0000896690"	"00000021"	"90"	"1627"	"0"	"1627"	"0"	"c.1627G>T"	"r.(?)"	"p.(Glu543Ter)"	""
"0000896731"	"00000021"	"90"	"6358"	"-1"	"6358"	"-1"	"c.6358-1G>A"	"r.spl"	"p.?"	""
"0000905925"	"00000021"	"90"	"1781"	"0"	"1781"	"0"	"c.1781T>A"	"r.(?)"	"p.(Leu594*)"	""
"0000905926"	"00000021"	"50"	"2888"	"0"	"2888"	"0"	"c.2888A>G"	"r.(?)"	"p.(Glu963Gly)"	""
"0000905927"	"00000021"	"90"	"1781"	"0"	"1781"	"0"	"c.1781T>A"	"r.(?)"	"p.(Leu594*)"	""
"0000905928"	"00000021"	"50"	"2888"	"0"	"2888"	"0"	"c.2888A>G"	"r.(?)"	"p.(Glu963Gly)"	""
"0000905963"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000913962"	"00000021"	"30"	"6136"	"-19"	"6136"	"-19"	"c.6136-19T>G"	"r.(=)"	"p.(=)"	""
"0000913963"	"00000021"	"30"	"4705"	"-18"	"4705"	"-18"	"c.4705-18C>T"	"r.(=)"	"p.(=)"	""
"0000915811"	"00000021"	"90"	"5932"	"0"	"5932"	"0"	"c.5932C>T"	"r.(?)"	"p.(Arg1978*)"	"43"
"0000915812"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.[Cys998*=]"	"26i"
"0000915877"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.[Cys998*=]"	"26i"
"0000915878"	"00000021"	"90"	"3175"	"0"	"3175"	"0"	"c.3175dup"	"r.(?)"	"p.(Ile1059Asnfs*11)"	"28"
"0000915961"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(?)"	"p.(Asp128Glufs*34)"	"6"
"0000915962"	"00000021"	"90"	"7031"	"0"	"7031"	"0"	"c.[7031T>A;7034_7034+8del]"	"r.(?)"	"p.[(Leu2344His;Arg2345Asnfs*2)]"	"51"
"0000915963"	"00000021"	"90"	"7031"	"0"	"7031"	"0"	"c.[7031T>A;7034_7034+8del]"	"r.?"	"p.[(Leu2344His;Arg2345Asnfs*2)]"	"51"
"0000916054"	"00000021"	"50"	"2879"	"0"	"2879"	"0"	"c.2879C>T"	"r.(?)"	"p.(Ser960Phe)"	"26"
"0000916129"	"00000021"	"50"	"1159"	"0"	"1159"	"0"	"c.1159G>A"	"r.(?)"	"p.(Asp387Asn)"	"13"
"0000916130"	"00000021"	"90"	"6031"	"0"	"6031"	"0"	"c.6031C>T"	"r.(?)"	"p.(Arg2011*)"	"44"
"0000916300"	"00000021"	"90"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(?)"	"p.(Leu1884Thrfs*23)"	"41"
"0000916301"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.[Cys998*=]"	"26i"
"0000916417"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556Phefs*17)"	"17"
"0000916474"	"00000021"	"90"	"1623"	"1"	"1623"	"1"	"c.1623+1G>A"	"r.spl?"	"p.(?)"	"16i"
"0000916475"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.[Cys998*=]"	"26i"
"0000916533"	"00000021"	"90"	"508"	"0"	"508"	"0"	"c.508A>T"	"r.(?)"	"p.(Lys170*)"	"8"
"0000916534"	"00000021"	"50"	"1298"	"0"	"1298"	"0"	"c.1298A>G"	"r.(?)"	"p.(Asp433Gly)"	"14"
"0000916603"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.[Cys998*=]"	"26i"
"0000916604"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890*)"	"41"
"0000916630"	"00000021"	"70"	"4094"	"0"	"4094"	"0"	"c.4094T>A"	"r.(?)"	"p.(Leu1365*)"	"32"
"0000916631"	"00000021"	"70"	"4438"	"-3"	"4438"	"-3"	"c.4438-3del"	"r.spl?"	"p.(?)"	"34i"
"0000925705"	"00000021"	"50"	"5825"	"0"	"5825"	"0"	"c.5825A>G"	"r.(?)"	"p.(Gln1942Arg)"	""
"0000925706"	"00000021"	"30"	"942"	"4"	"942"	"4"	"c.942+4T>A"	"r.spl?"	"p.?"	""
"0000930157"	"00000021"	"50"	"7340"	"0"	"7340"	"0"	"c.7340A>C"	"r.(?)"	"p.(Lys2447Thr)"	""
"0000930158"	"00000021"	"30"	"7186"	"0"	"7186"	"0"	"c.7186G>T"	"r.(?)"	"p.(Asp2396Tyr)"	""
"0000930159"	"00000021"	"30"	"6235"	"0"	"6235"	"0"	"c.6235C>A"	"r.(?)"	"p.(Leu2079Ile)"	""
"0000930160"	"00000021"	"50"	"6098"	"0"	"6098"	"0"	"c.6098A>G"	"r.(?)"	"p.(Glu2033Gly)"	""
"0000930161"	"00000021"	"50"	"4754"	"0"	"4754"	"0"	"c.4754A>G"	"r.(?)"	"p.(His1585Arg)"	""
"0000930162"	"00000021"	"50"	"4028"	"0"	"4028"	"0"	"c.4028A>T"	"r.(?)"	"p.(Lys1343Met)"	""
"0000933617"	"00000021"	"90"	"4651"	"0"	"4651"	"0"	"c.4651C>T"	"r.(?)"	"p.(Gln1551*)"	""
"0000933806"	"00000021"	"90"	"1523"	"-1"	"2991"	"1"	"c.(1522+1_1523-1)_(2991+1_2992-1)dup"	"r.?"	"p.?"	"15i_26i"
"0000933807"	"00000021"	"90"	"4651"	"0"	"4651"	"0"	"c.4651C>T"	"r.(?)"	"p.(Gln1551*)"	""
"0000950038"	"00000021"	"30"	"8210"	"0"	"8210"	"0"	"c.*770C>G"	"r.(=)"	"p.(=)"	""
"0000950039"	"00000021"	"50"	"3976"	"0"	"3976"	"0"	"c.3976A>G"	"r.(?)"	"p.(Lys1326Glu)"	""
"0000950040"	"00000021"	"50"	"3626"	"0"	"3626"	"0"	"c.3626C>G"	"r.(?)"	"p.(Ser1209Cys)"	""
"0000950041"	"00000021"	"30"	"1712"	"-6"	"1712"	"-6"	"c.1712-6A>G"	"r.(=)"	"p.(=)"	""
"0000950042"	"00000021"	"30"	"1712"	"-20"	"1712"	"-20"	"c.1712-20G>T"	"r.(=)"	"p.(=)"	""
"0000950043"	"00000021"	"30"	"250"	"10"	"250"	"10"	"c.250+10T>C"	"r.(=)"	"p.(=)"	""
"0000950044"	"00000021"	"50"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Ala76Thr)"	""
"0000951806"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(384_387del)"	"p.(Asp128Glufs*34)"	""
"0000951807"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(384_387del)"	"p.(Asp128Glufs*34)"	""
"0000951808"	"00000021"	"90"	"180"	"2"	"180"	"2"	"c.180+2T>A"	"r.spl"	"p.?"	"3i"
"0000951809"	"00000021"	"90"	"384"	"0"	"387"	"0"	"c.384_387del"	"r.(384_387del)"	"p.(Asp128Glufs*34)"	""
"0000951810"	"00000021"	"90"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(?)"	"p.(Arg205*)"	""
"0000951811"	"00000021"	"90"	"4115"	"0"	"4116"	"0"	"c.4115_4116del"	"r.(?)"	"p.(Ile1372Lysfs*5)"	""
"0000951812"	"00000021"	"90"	"1860"	"0"	"1861"	"0"	"c.1860_1861del"	"r.(?)"	"p.(Asp622Phefs*5)"	""
"0000951813"	"00000021"	"90"	"3793"	"0"	"3793"	"0"	"c.3793C>T"	"r.(?)"	"p.(Gln1265*)"	""
"0000951814"	"00000021"	"90"	"3104"	"-1"	"3104"	"-1"	"c.3104-1G>A"	"r.spl"	"p.?"	""
"0000951815"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	""
"0000951818"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000951819"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000951820"	"00000021"	"90"	"5850"	"0"	"5850"	"0"	"c.5850del"	"r.(?)"	"p.(Phe1950Leufs*15)"	""
"0000951821"	"00000021"	"90"	"289"	"0"	"289"	"0"	"c.289G>T"	"r.(?)"	"p.(Glu97*)"	""
"0000951822"	"00000021"	"90"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Gln662*)"	""
"0000951823"	"00000021"	"90"	"3446"	"0"	"3447"	"0"	"c.3446_3447del"	"r.(?)"	"p.(Lys1149Serfs*2)"	""
"0000951824"	"00000021"	"90"	"1219"	"0"	"1220"	"0"	"c.1219_1220del"	"r.(?)"	"p.(Met407Glufs*14)"	""
"0000951872"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000951874"	"00000021"	"90"	"5493"	"0"	"5493"	"0"	"c.5493del"	"r.(?)"	"p.(Ala1832Profs*19)"	""
"0000957955"	"00000021"	"70"	"251"	"-2"	"251"	"-2"	"c.251-2A>T"	"r.(?)"	"p.(?)"	""
"0000958035"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl?"	"p.?"	""
"0000958048"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556PhefsTer17)"	""
"0000958061"	"00000021"	"90"	"6448"	"0"	"6455"	"0"	"c.6448_6455del"	"r.(?)"	"p.(Gln2150LysfsTer8)"	""
"0000958205"	"00000021"	"70"	"2368"	"-831"	"2483"	"627"	"c.2368-831_2483+627del"	"r.?"	"p.?"	""
"0000958206"	"00000021"	"90"	"4159"	"0"	"4159"	"0"	"c.4159dup"	"r.(?)"	"p.(Ser1387LysfsTer4)"	""
"0000958343"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.?"	""
"0000958408"	"00000021"	"90"	"1709"	"0"	"1709"	"0"	"c.1709C>G"	"r.(?)"	"p.(Ser570Ter)"	""
"0000958432"	"00000021"	"90"	"5740"	"0"	"5740"	"0"	"c.5740G>T"	"r.(?)"	"p.(Glu1914Ter)"	""
"0000958442"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000958550"	"00000021"	"70"	"2991"	"1655"	"2991"	"1655"	"c.2991+1655A>G"	"r.spl"	"p.?"	""
"0000958551"	"00000021"	"70"	"4661"	"0"	"4663"	"0"	"c.4661_4663del"	"r.(?)"	"p.(Glu1554del)"	""
"0000958873"	"00000021"	"90"	"4452"	"0"	"4455"	"0"	"c.4452_4455del"	"r.(?)"	"p.(Lys1484AsnfsTer4)"	""
"0000959062"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl"	"p.?"	""
"0000959314"	"00000021"	"50"	"2414"	"0"	"2414"	"0"	"c.2414T>C"	"r.(?)"	"p.(Leu805Pro)"	""
"0000959388"	"00000021"	"90"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360Ter)"	""
"0000967099"	"00000021"	"30"	"6452"	"0"	"6452"	"0"	"c.6452T>C"	"r.(?)"	"p.(Leu2151Ser)"	""
"0000967101"	"00000021"	"30"	"4705"	"-18"	"4705"	"-18"	"c.4705-18C>T"	"r.(=)"	"p.(=)"	""
"0000967102"	"00000021"	"50"	"2980"	"0"	"2980"	"0"	"c.2980G>A"	"r.(?)"	"p.(Glu994Lys)"	""
"0000967103"	"00000021"	"30"	"2780"	"0"	"2780"	"0"	"c.2780A>G"	"r.(?)"	"p.(Glu927Gly)"	""
"0000967106"	"00000021"	"30"	"341"	"0"	"341"	"0"	"c.341G>A"	"r.(?)"	"p.(Arg114His)"	""
"0000980495"	"00000021"	"90"	"5668"	"0"	"5668"	"0"	"c.5668G>T"	"r.(?)"	"p.(Gly1890Ter)"	""
"0000980496"	"00000021"	"50"	"4754"	"0"	"4754"	"0"	"c.4754A>G"	"r.(?)"	"p.(His1585Arg)"	""
"0000980497"	"00000021"	"50"	"3826"	"0"	"3826"	"0"	"c.3826G>A"	"r.(?)"	"p.(Gly1276Arg)"	""
"0000980498"	"00000021"	"50"	"523"	"0"	"523"	"0"	"c.523C>A"	"r.(?)"	"p.(Gln175Lys)"	""
"0000985481"	"00000021"	"90"	"6869"	"0"	"6869"	"0"	"c.6869del"	"r.(?)"	"p.(Asn2290IlefsTer11)"	""
"0000985482"	"00000021"	"70"	"6604"	"0"	"6604"	"0"	"c.6604del"	"r.(?)"	"p.(Ile2202LeufsTer24)"	""
"0000985492"	"00000021"	"90"	"6136"	"-436"	"6136"	"-436"	"c.6136-436A>G"	"r.6135_6136ins[6136-498_6136-437;g;6136-435_6136-402]"	"p.Ile2046Aspfs*29"	""
"0000985493"	"00000021"	"90"	"6136"	"-436"	"6136"	"-436"	"c.6136-436A>G"	"r.6135_6136ins[6136-498_6136-437;g;6136-435_6136-402]"	"p.Ile2046Aspfs*29"	""
"0001000353"	"00000021"	"30"	"7394"	"0"	"7395"	"0"	"c.7394_7395del"	"r.(?)"	"p.(Glu2465ValfsTer2)"	""
"0001000354"	"00000021"	"50"	"7268"	"0"	"7268"	"0"	"c.7268A>G"	"r.(?)"	"p.(Glu2423Gly)"	""
"0001000355"	"00000021"	"30"	"6116"	"0"	"6116"	"0"	"c.6116A>G"	"r.(?)"	"p.(Asp2039Gly)"	""
"0001000356"	"00000021"	"30"	"5322"	"0"	"5322"	"0"	"c.5322C>T"	"r.(?)"	"p.(Leu1774=)"	""
"0001000357"	"00000021"	"90"	"4393"	"0"	"4393"	"0"	"c.4393C>T"	"r.(?)"	"p.(Arg1465Ter)"	""
"0001000358"	"00000021"	"50"	"2317"	"0"	"2317"	"0"	"c.2317A>T"	"r.(?)"	"p.(Ser773Cys)"	""
"0001000359"	"00000021"	"50"	"2279"	"0"	"2279"	"0"	"c.2279T>C"	"r.(?)"	"p.(Phe760Ser)"	""
"0001000360"	"00000021"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Ter)"	""
"0001015020"	"00000021"	"90"	"5587"	"-1"	"5587"	"-1"	"c.5587-1G>C"	"r.spl?"	"p.?"	""
"0001022194"	"00000021"	"70"	"5855"	"5"	"5855"	"5"	"c.5855+5G>A"	"r.5710_5855del"	"p.Asn1904SerfsTer3"	"42i"
"0001022261"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0001022307"	"00000021"	"90"	"4723"	"0"	"4723"	"0"	"c.4723A>T"	"r.(?)"	"p.(Lys1575Ter)"	""
"0001022351"	"00000021"	"90"	"6152"	"0"	"6152"	"0"	"c.6152C>G"	"r.(?)"	"p.(Ser2051Ter)"	""
"0001026237"	"00000021"	"50"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Arg360Gln)"	""
"0001027553"	"00000021"	"90"	"6401"	"0"	"6401"	"0"	"c.6401T>C"	"r.(?)"	"p.(Ile2134Thr)"	""
"0001027571"	"00000021"	"90"	"4195"	"-1"	"4195"	"-1"	"c.4195-1G>A"	"r.spl"	"p.?"	""
"0001039495"	"00000021"	"50"	"7311"	"0"	"7313"	"0"	"c.7311_7313del"	"r.(?)"	"p.(Lys2437del)"	""
"0001039496"	"00000021"	"50"	"7275"	"0"	"7275"	"0"	"c.7275A>C"	"r.(?)"	"p.(Glu2425Asp)"	""
"0001039497"	"00000021"	"30"	"7070"	"0"	"7070"	"0"	"c.7070A>G"	"r.(?)"	"p.(Glu2357Gly)"	""
"0001039498"	"00000021"	"90"	"5813"	"0"	"5817"	"0"	"c.5813_5817del"	"r.(?)"	"p.(Thr1938Asnfs*16)"	""
"0001039499"	"00000021"	"50"	"4294"	"0"	"4294"	"0"	"c.4294G>A"	"r.(?)"	"p.(Ala1432Thr)"	""
"0001039500"	"00000021"	"50"	"3545"	"0"	"3545"	"0"	"c.3545C>G"	"r.(?)"	"p.(Ser1182Cys)"	""
"0001039501"	"00000021"	"70"	"3541"	"0"	"3541"	"0"	"c.3541G>T"	"r.(?)"	"p.(Glu1181*)"	""
"0001039502"	"00000021"	"30"	"2694"	"0"	"2694"	"0"	"c.2694G>A"	"r.(?)"	"p.(=)"	""
"0001039503"	"00000021"	"70"	"1360"	"0"	"1360"	"0"	"c.1360G>T"	"r.(?)"	"p.(Gly454*)"	""
"0001044567"	"00000021"	"90"	"5649"	"0"	"5649"	"0"	"c.5649dup"	"r.(5649dup)"	"p.(Leu1884ThrfsTer23)"	""
"0001044568"	"00000021"	"30"	"7130"	"-160"	"7130"	"-160"	"c.7130-160T>G"	"r.(=)"	"p.(=)"	""
"0001048425"	"00000021"	"90"	"1666"	"0"	"1666"	"0"	"c.1666dup"	"r.(?)"	"p.(Ile556Asnfs*20)"	""
"0001048426"	"00000021"	"90"	"6271"	"-8"	"6271"	"-8"	"c.6271-8T>G"	"r.6270_6271ins6271-7_6271-1"	"p.Asn2091LeufsTer13"	"45i"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1419
"{{screeningid}}"	"{{variantid}}"
"0000000023"	"0000000272"
"0000000087"	"0000730374"
"0000028950"	"0000785441"
"0000028955"	"0000052263"
"0000028955"	"0000052395"
"0000033147"	"0000059618"
"0000033147"	"0000059620"
"0000033148"	"0000059622"
"0000033148"	"0000059624"
"0000033149"	"0000059626"
"0000033149"	"0000059627"
"0000033150"	"0000059619"
"0000033151"	"0000059621"
"0000033152"	"0000059623"
"0000033153"	"0000059625"
"0000033154"	"0000059628"
"0000033202"	"0000059632"
"0000033202"	"0000059633"
"0000033211"	"0000059629"
"0000033211"	"0000059630"
"0000033259"	"0000059764"
"0000033260"	"0000059749"
"0000033261"	"0000059750"
"0000033262"	"0000059653"
"0000033262"	"0000951811"
"0000033263"	"0000059651"
"0000033264"	"0000059652"
"0000033265"	"0000059655"
"0000033266"	"0000059654"
"0000033267"	"0000059656"
"0000033268"	"0000059636"
"0000033269"	"0000059660"
"0000033270"	"0000059657"
"0000033271"	"0000059658"
"0000033272"	"0000059659"
"0000033273"	"0000059751"
"0000033274"	"0000059770"
"0000033276"	"0000059769"
"0000033276"	"0000951806"
"0000033277"	"0000059661"
"0000033278"	"0000059663"
"0000033279"	"0000059662"
"0000033280"	"0000059752"
"0000033281"	"0000059666"
"0000033282"	"0000059667"
"0000033283"	"0000059664"
"0000033284"	"0000059631"
"0000033285"	"0000059665"
"0000033286"	"0000059634"
"0000033287"	"0000059753"
"0000033288"	"0000059668"
"0000033289"	"0000059669"
"0000033290"	"0000059635"
"0000033291"	"0000059757"
"0000033292"	"0000059670"
"0000033293"	"0000059756"
"0000033294"	"0000059754"
"0000033295"	"0000059755"
"0000033296"	"0000059674"
"0000033297"	"0000059675"
"0000033298"	"0000059673"
"0000033299"	"0000059672"
"0000033300"	"0000059671"
"0000033301"	"0000059676"
"0000033302"	"0000059637"
"0000033303"	"0000059677"
"0000033304"	"0000059678"
"0000033305"	"0000059638"
"0000033306"	"0000059679"
"0000033306"	"0000951813"
"0000033307"	"0000059778"
"0000033308"	"0000059758"
"0000033309"	"0000059759"
"0000033310"	"0000059680"
"0000033310"	"0000951814"
"0000033311"	"0000059761"
"0000033312"	"0000059760"
"0000033313"	"0000059681"
"0000033314"	"0000059683"
"0000033315"	"0000059684"
"0000033316"	"0000059642"
"0000033317"	"0000059682"
"0000033318"	"0000059762"
"0000033319"	"0000059763"
"0000033320"	"0000059685"
"0000033322"	"0000059641"
"0000033322"	"0000951812"
"0000033323"	"0000059686"
"0000033324"	"0000059689"
"0000033325"	"0000059640"
"0000033326"	"0000059643"
"0000033327"	"0000059644"
"0000033328"	"0000059691"
"0000033329"	"0000059688"
"0000033330"	"0000059687"
"0000033332"	"0000059693"
"0000033333"	"0000059765"
"0000033334"	"0000059639"
"0000033335"	"0000059694"
"0000033336"	"0000059695"
"0000033337"	"0000059696"
"0000033338"	"0000059697"
"0000033339"	"0000059698"
"0000033340"	"0000059766"
"0000033341"	"0000059699"
"0000033342"	"0000059700"
"0000033343"	"0000059701"
"0000033344"	"0000059702"
"0000033345"	"0000059704"
"0000033346"	"0000059703"
"0000033347"	"0000059705"
"0000033348"	"0000059708"
"0000033349"	"0000059707"
"0000033350"	"0000059706"
"0000033351"	"0000059709"
"0000033352"	"0000059710"
"0000033353"	"0000059711"
"0000033354"	"0000059767"
"0000033355"	"0000059712"
"0000033356"	"0000059713"
"0000033357"	"0000059716"
"0000033358"	"0000059717"
"0000033359"	"0000059718"
"0000033360"	"0000059714"
"0000033361"	"0000059715"
"0000033362"	"0000059771"
"0000033363"	"0000059725"
"0000033364"	"0000059726"
"0000033364"	"0000951815"
"0000033365"	"0000059719"
"0000033366"	"0000059720"
"0000033367"	"0000059647"
"0000033368"	"0000059773"
"0000033369"	"0000059772"
"0000033370"	"0000059729"
"0000033371"	"0000059728"
"0000033372"	"0000059732"
"0000033373"	"0000059730"
"0000033374"	"0000059731"
"0000033375"	"0000059727"
"0000033376"	"0000059735"
"0000033377"	"0000059736"
"0000033378"	"0000059734"
"0000033379"	"0000059733"
"0000033380"	"0000059738"
"0000033381"	"0000059737"
"0000033383"	"0000059646"
"0000033384"	"0000059774"
"0000033385"	"0000059740"
"0000033386"	"0000059739"
"0000033387"	"0000059775"
"0000033388"	"0000059741"
"0000033389"	"0000059742"
"0000033390"	"0000059649"
"0000033391"	"0000059744"
"0000033392"	"0000059743"
"0000033393"	"0000059776"
"0000033394"	"0000059777"
"0000033395"	"0000059748"
"0000033396"	"0000059747"
"0000033397"	"0000059746"
"0000033398"	"0000059745"
"0000033399"	"0000059648"
"0000033400"	"0000059650"
"0000033401"	"0000059723"
"0000033402"	"0000059724"
"0000033403"	"0000059721"
"0000033403"	"0000059722"
"0000033404"	"0000059779"
"0000033404"	"0000059780"
"0000050602"	"0000079582"
"0000050602"	"0000079691"
"0000056007"	"0000086044"
"0000056007"	"0000086045"
"0000080990"	"0000130076"
"0000100497"	"0000162796"
"0000105469"	"0000170887"
"0000105469"	"0000170888"
"0000117838"	"0000193784"
"0000117838"	"0000193785"
"0000117839"	"0000193786"
"0000117839"	"0000193787"
"0000156272"	"0000358194"
"0000156273"	"0000358195"
"0000156274"	"0000358196"
"0000156274"	"0000358416"
"0000156275"	"0000358197"
"0000174721"	"0000790653"
"0000208520"	"0000438396"
"0000208520"	"0000438398"
"0000208522"	"0000438399"
"0000208522"	"0000438400"
"0000208528"	"0000438407"
"0000208528"	"0000438408"
"0000208625"	"0000438543"
"0000208625"	"0000438544"
"0000208657"	"0000438628"
"0000208657"	"0000438629"
"0000208701"	"0000438638"
"0000208701"	"0000438639"
"0000241537"	"0000487547"
"0000270579"	"0000604355"
"0000270579"	"0000604356"
"0000270580"	"0000604357"
"0000270580"	"0000604358"
"0000270582"	"0000604359"
"0000270582"	"0000604360"
"0000270583"	"0000604361"
"0000270584"	"0000604362"
"0000270584"	"0000604363"
"0000270584"	"0000604364"
"0000270616"	"0000604392"
"0000270616"	"0000604393"
"0000270746"	"0000604562"
"0000270746"	"0000604563"
"0000270746"	"0000604564"
"0000270747"	"0000604565"
"0000270747"	"0000604566"
"0000270747"	"0000604567"
"0000270922"	"0000620299"
"0000270923"	"0000620300"
"0000270924"	"0000620301"
"0000270925"	"0000620302"
"0000270925"	"0000620303"
"0000270927"	"0000620291"
"0000270927"	"0000620298"
"0000270929"	"0000620293"
"0000270930"	"0000620294"
"0000270930"	"0000620297"
"0000271122"	"0000624991"
"0000271122"	"0000624992"
"0000291974"	"0000648663"
"0000291975"	"0000648664"
"0000291976"	"0000648665"
"0000291977"	"0000648666"
"0000291978"	"0000648667"
"0000291979"	"0000648668"
"0000291980"	"0000648669"
"0000291981"	"0000648670"
"0000291982"	"0000648671"
"0000291983"	"0000648672"
"0000291984"	"0000648673"
"0000296530"	"0000653219"
"0000296540"	"0000653229"
"0000296674"	"0000653366"
"0000301719"	"0000664769"
"0000301719"	"0000664784"
"0000305512"	"0000669200"
"0000305513"	"0000669201"
"0000309637"	"0000684510"
"0000309638"	"0000684511"
"0000310173"	"0000685084"
"0000310174"	"0000685085"
"0000310175"	"0000685086"
"0000310176"	"0000685087"
"0000316660"	"0000698821"
"0000326702"	"0000710294"
"0000329137"	"0000713260"
"0000329242"	"0000713365"
"0000329245"	"0000713368"
"0000332572"	"0000729854"
"0000332573"	"0000729855"
"0000332574"	"0000729856"
"0000332575"	"0000729857"
"0000332576"	"0000729858"
"0000332577"	"0000729859"
"0000332954"	"0000730341"
"0000332954"	"0000730361"
"0000333408"	"0000730982"
"0000333408"	"0000731035"
"0000333409"	"0000730983"
"0000333485"	"0000731139"
"0000333485"	"0000731166"
"0000333493"	"0000731147"
"0000333495"	"0000731149"
"0000333495"	"0000731172"
"0000333570"	"0000731246"
"0000333570"	"0000731272"
"0000333571"	"0000731247"
"0000333571"	"0000731273"
"0000333572"	"0000731248"
"0000333572"	"0000731274"
"0000333573"	"0000731249"
"0000333573"	"0000731275"
"0000333574"	"0000731250"
"0000333574"	"0000731276"
"0000333614"	"0000731316"
"0000333614"	"0000731341"
"0000333615"	"0000731317"
"0000333615"	"0000731342"
"0000333615"	"0000731345"
"0000333684"	"0000731433"
"0000333684"	"0000731454"
"0000333688"	"0000731437"
"0000333688"	"0000731456"
"0000333697"	"0000731460"
"0000333698"	"0000731461"
"0000333699"	"0000731462"
"0000334578"	"0000732452"
"0000334585"	"0000732488"
"0000334585"	"0000732489"
"0000334686"	"0000732666"
"0000334686"	"0000732693"
"0000334687"	"0000732667"
"0000334687"	"0000732705"
"0000334697"	"0000732677"
"0000334697"	"0000732704"
"0000335038"	"0000733047"
"0000335038"	"0000733517"
"0000335039"	"0000733048"
"0000335039"	"0000733518"
"0000335121"	"0000733130"
"0000335121"	"0000733580"
"0000335122"	"0000733131"
"0000335122"	"0000733581"
"0000335158"	"0000733167"
"0000335158"	"0000733605"
"0000335159"	"0000733168"
"0000335159"	"0000733606"
"0000335160"	"0000733169"
"0000335160"	"0000733607"
"0000335161"	"0000733170"
"0000335161"	"0000733608"
"0000335162"	"0000733171"
"0000335162"	"0000733609"
"0000335163"	"0000733172"
"0000335163"	"0000733610"
"0000335168"	"0000733177"
"0000335169"	"0000733178"
"0000335169"	"0000733614"
"0000335170"	"0000733179"
"0000335170"	"0000733615"
"0000335171"	"0000733180"
"0000335171"	"0000733616"
"0000335192"	"0000733201"
"0000335192"	"0000733631"
"0000335193"	"0000733202"
"0000335193"	"0000733632"
"0000335194"	"0000733203"
"0000335194"	"0000733633"
"0000335325"	"0000733334"
"0000335325"	"0000733716"
"0000336325"	"0000735600"
"0000336325"	"0000735723"
"0000336326"	"0000735601"
"0000336326"	"0000735724"
"0000336473"	"0000735848"
"0000336473"	"0000735868"
"0000336490"	"0000735886"
"0000336490"	"0000735954"
"0000336491"	"0000735887"
"0000336492"	"0000735888"
"0000336492"	"0000735953"
"0000336493"	"0000735889"
"0000336493"	"0000735955"
"0000336562"	"0000735987"
"0000336563"	"0000735988"
"0000336673"	"0000736158"
"0000336673"	"0000736159"
"0000336707"	"0000736197"
"0000336707"	"0000736252"
"0000336708"	"0000736198"
"0000336708"	"0000736253"
"0000336709"	"0000736199"
"0000336709"	"0000736254"
"0000336764"	"0000736298"
"0000336764"	"0000736299"
"0000336766"	"0000736301"
"0000336766"	"0000736302"
"0000360047"	"0000759723"
"0000360047"	"0000759724"
"0000360077"	"0000759753"
"0000360077"	"0000759781"
"0000360079"	"0000759755"
"0000360080"	"0000759756"
"0000360080"	"0000759783"
"0000360083"	"0000759759"
"0000360083"	"0000759785"
"0000360084"	"0000759760"
"0000360087"	"0000759763"
"0000360097"	"0000759773"
"0000360097"	"0000759796"
"0000360102"	"0000759778"
"0000360102"	"0000759803"
"0000360126"	"0000759824"
"0000360126"	"0000759858"
"0000360127"	"0000759825"
"0000360127"	"0000759859"
"0000360128"	"0000759826"
"0000360128"	"0000759860"
"0000360128"	"0000759861"
"0000360129"	"0000759827"
"0000360129"	"0000759862"
"0000360130"	"0000759828"
"0000360130"	"0000759863"
"0000360187"	"0000759983"
"0000360202"	"0000759929"
"0000360202"	"0000759955"
"0000360203"	"0000759930"
"0000360203"	"0000759956"
"0000360278"	"0000760170"
"0000360278"	"0000760430"
"0000360290"	"0000760182"
"0000360296"	"0000760188"
"0000360296"	"0000760401"
"0000360299"	"0000760191"
"0000360299"	"0000760439"
"0000360301"	"0000760193"
"0000360301"	"0000760440"
"0000360319"	"0000760211"
"0000360319"	"0000760446"
"0000360322"	"0000760214"
"0000360322"	"0000760449"
"0000360323"	"0000760215"
"0000360323"	"0000760450"
"0000360324"	"0000760216"
"0000360324"	"0000760451"
"0000360330"	"0000760222"
"0000360330"	"0000760454"
"0000360334"	"0000760226"
"0000360334"	"0000760456"
"0000360424"	"0000760316"
"0000360424"	"0000760493"
"0000360569"	"0000760601"
"0000360569"	"0000760611"
"0000360620"	"0000760662"
"0000363316"	"0000763893"
"0000363316"	"0000763973"
"0000364162"	"0000764924"
"0000364162"	"0000764944"
"0000364167"	"0000764929"
"0000364167"	"0000764947"
"0000364624"	"0000765489"
"0000364624"	"0000765504"
"0000364679"	"0000765554"
"0000364679"	"0000765594"
"0000364790"	"0000765697"
"0000364790"	"0000765736"
"0000364791"	"0000765698"
"0000364791"	"0000765737"
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