### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GUCA1A)
# 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}}"
"GUCA1A"	"guanylate cyclase activator 1A (retina)"	"6"	"p21.1"	"unknown"	"NG_009938.1"	"UD_132118245599"	""	"http://www.LOVD.nl/GUCA1A"	""	"1"	"4678"	"2978"	"600364"	"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/GUCA1A_NM_000409.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-02-13 00:00:00"	"00006"	"2015-02-28 09:08:01"	"00000"	"2024-08-28 13:16:32"


## 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}}"
"00009059"	"GUCA1A"	"guanylate cyclase activator 1A (retina)"	"001"	"NM_000409.3"	""	"NP_000400.2"	""	""	""	"-645"	"1259"	"606"	"42123144"	"42147794"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"
"02417"	"COD3;CORD14"	"dystrophy, cone, type 3 (COD-3, dystrophy, cone-rod, type 14 (CORD-14))"	"AD"	"602093"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GUCA1A"	"02417"


## Individuals ## Do not remove or alter this header ##
## Count = 247
"{{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}}"
"00033100"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033133"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00240437"	""	""	""	"1"	""	"03335"	""	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00294107"	""	""	""	"58"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305101"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308386"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC06352"
"00325448"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"2996"
"00327907"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240001"
"00328060"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G002631"
"00328100"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005202"
"00328220"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G007746"
"00328460"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15017066"
"00331294"	""	""	""	"1"	""	"00000"	"{PMID:Wawrocka 2018:29769798}"	""	""	""	"Poland"	""	"0"	""	""	""	"Fam18"
"00332038"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat176"
"00332039"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat177"
"00332040"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat178"
"00332198"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB185"
"00333381"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD13–01"
"00333419"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD1–12"
"00333420"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD11–05"
"00333584"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"293"
"00333626"	""	""	""	"12"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 12 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"381"
"00333627"	""	""	""	"12"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 12 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"382"
"00333628"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"383"
"00333629"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"384"
"00333630"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"385"
"00333636"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"469"
"00359134"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12002573"
"00362066"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT580"
"00362067"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2013:23428504}, {PMID:Huang 2016:26992781}"	"4-generation family, 9 affected (8f, M)"	"F;M"	""	"China"	""	"0"	""	""	""	"QT946"
"00362894"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"MB54"
"00372691"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP235"
"00382311"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"140"
"00382312"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"141"
"00387622"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"4"
"00388035"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27788217}"	""	"F"	""	"United States"	""	"0"	""	""	""	"7"
"00389207"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 163, macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"491"
"00389208"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 163, macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"492"
"00389729"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1013"
"00389730"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1014"
"00389731"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1015"
"00389732"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1016"
"00389818"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 743, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1102"
"00389819"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 743, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1103"
"00390275"	""	""	""	"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"	""	""	""	"G002631"
"00390276"	""	""	""	"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"	""	""	""	"G005202"
"00390277"	""	""	""	"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"	""	""	""	"G007746"
"00391009"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00391161"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"123"
"00391162"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"124"
"00391163"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"125"
"00391164"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"126"
"00393648"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393667"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00406297"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD1, individual IV:7"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD1_IV:7"
"00406298"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD1, individual IV:12"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD1_IV:12"
"00406299"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD1, individual IV:13"	"F"	""	"Germany"	""	"0"	""	""	""	"ZD1_IV:13"
"00406300"	""	""	""	"1"	""	"00000"	"{PMID:Zobor 2014:24875811}"	"family ZD1, individual V:5"	"M"	""	"Germany"	""	"0"	""	""	""	"ZD1_V:5"
"00406360"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406361"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406362"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00406363"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2012:22183351}"	""	"?"	""	"Germany"	""	"0"	""	""	""	"?"
"00413256"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"A I/1"
"00413257"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"A II/1"
"00413258"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"F"	""	""	""	"0"	""	""	""	"A II/9"
"00413259"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"F"	""	""	""	"0"	""	""	""	"A II/11"
"00413260"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"A III/2"
"00413261"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"A III/4"
"00413262"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family A"	"F"	""	""	""	"0"	""	""	""	"A IV/2"
"00413263"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family B, mutation found also in 3 other family members, not sepcified"	"F"	""	""	""	"0"	""	""	""	"B IV/1"
"00413264"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732}"	"Family C"	"F"	""	""	""	"0"	""	""	""	"C II/3"
"00413265"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732};{PMID:Mahroo 2019:31804667}"	"Family C, proband; re-evaluated in {PMID:Mahroo 2019:31804667} due to his daughter\'s phenotype matching the X-linked dominant inheritance"	"M"	""	""	""	"0"	""	""	""	"C III/2"
"00413266"	""	""	""	"1"	""	"00000"	"{PMID:Downes 2001:11146732};{PMID:Mahroo 2019:31804667}"	"Family C"	"F"	""	""	""	"0"	""	""	""	"C III/10 (IV/3)"
"00413267"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"III:10"
"00413268"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"III:13"
"00413269"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"III:20"
"00413270"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"III:21"
"00413271"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"III:23"
"00413272"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"III:24"
"00413273"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"III:26"
"00413274"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:2"
"00413275"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:6"
"00413276"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:7"
"00413277"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:8"
"00413278"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:11"
"00413279"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:12"
"00413280"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:16"
"00413281"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:19"
"00413282"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:20"
"00413283"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:25"
"00413284"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:28"
"00413285"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:30"
"00413286"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"IV:32"
"00413287"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:36"
"00413288"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:37"
"00413289"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"IV:39"
"00413290"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"V:4"
"00413291"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"V:6"
"00413292"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"V:16"
"00413293"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"F"	""	"United States"	""	"0"	""	""	"white"	"V:18"
"00413294"	""	""	""	"1"	""	"00000"	"{PMID:Wilkie_2001:11484154}"	"Family with 33 affected individuals"	"M"	""	"United States"	""	"0"	""	""	"white"	"V:20"
"00413295"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi_2004:15505030}"	"5-generation family #3762, proband"	"M"	""	"United States"	""	"0"	""	""	""	"IV:1"
"00413296"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi_2004:15505030}"	"5-generation family #3762, proband\'s son"	"M"	""	"United States"	""	"0"	""	""	""	"V:1"
"00413297"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi_2004:15505030}"	"family #6551, proband (isolated)"	"M"	""	"United States"	""	"0"	""	""	""	"III:3"
"00413302"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"1"
"00413303"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"M"	""	"United States"	""	"0"	""	""	""	"2"
"00413304"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"M"	""	"United States"	""	"0"	""	""	""	"4"
"00413305"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"11"
"00413306"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"16"
"00413307"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"17"
"00413308"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"M"	""	"United States"	""	"0"	""	""	""	"18"
"00413309"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"19"
"00413310"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"20"
"00413311"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"M"	""	"United States"	""	"0"	""	""	""	"22"
"00413312"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"M"	""	"United States"	""	"0"	""	""	""	"23"
"00413313"	""	""	""	"1"	""	"00000"	"{PMID:Sokal 2005:15790869}"	""	"F"	""	"United States"	""	"0"	""	""	""	"24"
"00413314"	""	""	""	"1"	""	"00000"	"{PMID:Michaelides 2005:15953638}"	"British family, proband\'s maternal uncle"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"II:1"
"00413315"	""	""	""	"1"	""	"00000"	"{PMID:Michaelides 2005:15953638}"	"British family, proband\'s mother"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"II:5"
"00413316"	""	""	""	"1"	""	"00000"	"{PMID:Michaelides 2005:15953638}"	"British family, proband\'s maternal uncle\'s daughter"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III:1"
"00413317"	""	""	""	"1"	""	"00000"	"{PMID:Michaelides 2005:15953638}"	"British family, proband\'s maternal uncle\'s son"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III:4"
"00413318"	""	""	""	"1"	""	"00000"	"{PMID:Michaelides 2005:15953638}"	"British family, proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III:5"
"00413319"	""	""	""	"1"	""	"00000"	"{PMID:Michaelides 2005:15953638}"	"British family, proband\'s brother"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III:9"
"00413324"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2008:18706439}"	"American family, proband"	"M"	""	"United States"	""	"0"	""	""	""	"IV-3"
"00413325"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2008:18706439}"	"American family, proband\'s brother"	"M"	""	"United States"	""	"0"	""	""	""	"IV-1"
"00413326"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2008:18706439}"	"American family, proband\'s father"	"M"	""	"United States"	""	"0"	""	""	""	"III-1"
"00413327"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD182, individual 12121"	"M"	""	""	""	"0"	""	""	""	"12121"
"00413328"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD191, individual 15859"	"F"	""	""	""	"0"	""	""	""	"15859"
"00413329"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD1, individual 2093"	"F"	""	""	""	"0"	""	""	""	"2093"
"00413330"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD1, individual 2081"	"F"	""	""	""	"0"	""	""	""	"2081"
"00413331"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD1, individual 1737"	"F"	""	""	""	"0"	""	""	""	"1737"
"00413332"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD172, individual 11798"	"M"	""	""	""	"0"	""	""	""	"11798"
"00413333"	""	""	""	"1"	""	"00000"	"{PMID:Kitiratschky 2009:19459154}"	"family ZD172, individual 16033"	"M"	""	""	""	"0"	""	""	""	"16033"
"00413334"	""	""	""	"1"	""	"00000"	"{PMID:Kamenarova_2013:24024198}"	"family 141, individual II:1"	"M"	""	""	""	"0"	""	""	""	"I:1"
"00413335"	""	""	""	"1"	""	"00000"	"{PMID:Kamenarova_2013:24024198}"	"family 141, individual II:1"	"F"	""	""	""	"0"	""	""	""	"II:1"
"00413336"	""	""	""	"1"	""	"00000"	"{PMID:Kamenarova_2013:24024198}"	"family 141, individual II:1"	"F"	""	""	""	"0"	""	""	""	"II:3"
"00413337"	""	""	""	"1"	""	"00000"	"{PMID:Kamenarova_2013:24024198}"	"family 141, individual II:1"	"M"	""	""	""	"0"	""	""	""	"III:1"
"00413338"	""	""	""	"1"	""	"00000"	"{PMID:Kamenarova_2013:24024198}"	"family 141, individual II:1"	"M"	""	""	""	"0"	""	""	""	"III:4"
"00413339"	""	""	""	"1"	""	"00000"	"{PMID:Kamenarova_2013:24024198}"	"family 387, individual III:2"	"M"	""	""	""	"0"	""	""	""	"III:2"
"00413340"	""	""	""	"1"	""	"00000"	"{PMID:Nong 2014:24352742}"	"proband"	"M"	""	""	""	"0"	""	""	""	"Patient 1"
"00413341"	""	""	""	"1"	""	"00000"	"{PMID:Nong 2014:24352742}"	"proband\'s sister"	"F"	""	""	""	"0"	""	""	""	"Patient 2"
"00413342"	""	""	""	"1"	""	"00000"	"{PMID:Nong 2014:24352742}"	"proband\'s niece"	"F"	""	""	""	"0"	""	""	""	"Patient 3"
"00413344"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual I:1"	"M"	""	""	""	"0"	""	""	""	"I:1"
"00413345"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual II:3"	"F"	""	""	""	"0"	""	""	""	"II:3"
"00413346"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual II:5"	"F"	""	""	""	"0"	""	""	""	"II:5"
"00413347"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual III:2"	"F"	""	""	""	"0"	""	""	""	"III:2"
"00413348"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual III:5"	"F"	""	""	""	"0"	""	""	""	"III:5"
"00413349"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual III:7"	"M"	""	""	""	"0"	""	""	""	"III:7"
"00413350"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual III:9"	"M"	""	""	""	"0"	""	""	""	"III:9"
"00413351"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual IV:1 (proband)"	"M"	""	""	""	"0"	""	""	""	"IV:1"
"00413352"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual IV:3"	"M"	""	""	""	"0"	""	""	""	"IV:3"
"00413353"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual IV:6"	"M"	""	""	""	"0"	""	""	""	"IV:6"
"00413354"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual IV:10"	"F"	""	""	""	"0"	""	""	""	"IV:10"
"00413355"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual IV:11"	"M"	""	""	""	"0"	""	""	""	"IV:11"
"00413356"	""	""	""	"1"	""	"00000"	"{PMID:Jiang 2005:15735604}"	"american pedigree, individual V:4"	"F"	""	""	""	"0"	""	""	""	"V:4"
"00413357"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"I:1"
"00413358"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"II:1"
"00413359"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"II:9"
"00413360"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"II:11"
"00413361"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III:2"
"00413362"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"III:4"
"00413363"	""	""	""	"1"	""	"00000"	"{PMID:Payne 1998:9425234}"	"4-generation British family"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"IV:2"
"00413364"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 1"	"F"	""	""	""	"0"	""	""	""	"II:2"
"00413365"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 1"	"M"	""	""	""	"0"	""	""	""	"II:5"
"00413366"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 1"	"M"	""	""	""	"0"	""	""	""	"III:3"
"00413367"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 1"	"M"	""	""	""	"0"	""	""	""	"III:4"
"00413368"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 2"	"M"	""	""	""	"0"	""	""	""	"I:1"
"00413369"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 2"	"F"	""	""	""	"0"	""	""	""	"II:1"
"00413370"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 2"	"F"	""	""	""	"0"	""	""	""	"II:2"
"00413371"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 2"	"F"	""	""	""	"0"	""	""	""	"II:3"
"00413372"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 3"	"F"	""	""	""	"0"	""	""	""	"I:2"
"00413373"	""	""	""	"1"	""	"00000"	"{PMID:Vocke 2017:28025326}"	"Family 3"	"M"	""	""	""	"0"	""	""	""	"II:1"
"00413374"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-II:6"
"00413375"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-II:11"
"00413376"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-II:13"
"00413377"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:7"
"00413378"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:12"
"00413379"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:14"
"00413380"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:16"
"00413381"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:18"
"00413382"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:20"
"00413383"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:31"
"00413384"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-III:33"
"00413385"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-IV:3"
"00413386"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-IV:5"
"00413387"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-IV:6"
"00413388"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-IV:9"
"00413389"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"DC-IV:13"
"00413390"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-IV:19"
"00413391"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2017:28125083}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"DC-V:3"
"00413395"	""	""	""	"1"	""	"00000"	"{PMID:Manes 2019:28442884}"	"Family MTP 434, individual III-2"	"F"	""	"France"	""	"0"	""	""	""	"III-2"
"00413396"	""	""	""	"1"	""	"00000"	"{PMID:Manes 2019:28442884}"	"Family MTP 434, individual IV-1"	"F"	""	"France"	""	"0"	""	""	""	"IV-1"
"00413397"	""	""	""	"1"	""	"00000"	"{PMID:Manes 2019:28442884}"	"Family MTP 434, individual IV-3"	"M"	""	"France"	""	"0"	""	""	""	"IV-3"
"00413398"	""	""	""	"1"	""	"00000"	"{PMID:Manes 2019:28442884}"	"Family MTP 1560, individual II-1"	"M"	""	"France"	""	"0"	""	""	""	"II-1"
"00413399"	""	""	""	"1"	""	"00000"	"{PMID:Manes 2019:28442884}"	"Family MTP 1560, individual III-2"	"F"	""	"France"	""	"0"	""	""	""	"III-2"
"00413400"	""	""	""	"1"	""	"00000"	"{PMID:Manes 2019:28442884}"	"Family MTP 1560, individual IV-3"	"M"	""	"France"	""	"0"	""	""	""	"IV-3"
"00413402"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"M"	""	""	""	"0"	""	""	""	"II-1"
"00413403"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"M"	""	""	""	"0"	""	""	""	"II-2"
"00413404"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"M"	""	""	""	"0"	""	""	""	"II-3"
"00413405"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"F"	""	""	""	"0"	""	""	""	"II-6"
"00413406"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"F"	""	""	""	"0"	""	""	""	"III-1"
"00413407"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"M"	""	""	""	"0"	""	""	""	"III-2"
"00413408"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"F"	""	""	""	"0"	""	""	""	"IV-1"
"00413409"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"M"	""	""	""	"0"	""	""	""	"IV-2"
"00413410"	""	""	""	"1"	""	"00000"	"{PMID:Song 2018:29074494}"	"single family, 4 generations"	"F"	""	""	""	"0"	""	""	""	"IV-5"
"00413414"	""	""	""	"1"	""	"00000"	"{PMID:Marino 2018:30184081}"	"family, proband"	"M"	""	"Italy"	""	"0"	""	""	""	"II:1"
"00413415"	""	""	""	"1"	""	"00000"	"{PMID:Marino 2018:30184081}"	"family, proband\'s daughter 1"	"F"	""	"Italy"	""	"0"	""	""	""	"III:1"
"00413416"	""	""	""	"1"	""	"00000"	"{PMID:Marino 2018:30184081}"	"family, proband\'s daughter 3"	"F"	""	"Italy"	""	"0"	""	""	""	"III:3"
"00413417"	""	""	""	"1"	""	"00000"	"{PMID:Peshenko 2019:30622141}"	"family, proband"	"M"	""	""	""	"0"	""	""	""	"III:2"
"00413418"	""	""	""	"1"	""	"00000"	"{PMID:Peshenko 2019:30622141}"	"family, proband\'s maternal cousin"	"F"	""	""	""	"0"	""	""	""	"III:3"
"00413419"	""	""	""	"1"	""	"00000"	"{PMID:Peshenko 2019:30622141}"	"family, proband\'s maternal cousin\'s daughter"	"F"	""	""	""	"0"	""	""	""	"IV:1"
"00413421"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family JIKEI 136, proband\'s mother"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famJIKEI 136patI:2"
"00413422"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family JIKEI 136, proband"	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"famJIKEI 136patII:2"
"00413423"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family NTMC 244, proband"	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"famNTMC 244patII:1"
"00413424"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family NTMC 244, proband\'s father"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famNTMC 244patI:1"
"00413425"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family NTMC 244, proband\'s brother"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famNTMC 244patII:2"
"00413426"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family NTMC 244, proband\'s son"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famNTMC 244patIII:1"
"00413427"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family JIKEI 215, proband"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famJIKEI 215patII:1"
"00413428"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family JIKEI 215, proband\'s father"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famJIKEI 215patI:1"
"00413429"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family JIKEI 215, proband\'s brother"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"famJIKEI 215patII:3"
"00413430"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family IWATE003, JIKEI010"	"?"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00413431"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family NTMC223, NAGOYA114 (segregation not done)"	"?"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00413432"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family NTMC262"	"?"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00413433"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family TEIKYO009"	"?"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00413434"	""	""	""	"1"	""	"00000"	"{PMID:Mizobuchi 2019:31728034}"	"family JIKEI118, NTMC234, NTMC290, KINKI051, MIE066 - two families not matched, remaining 3 families not done"	"?"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00413470"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband\'s maternal grandfather"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"I:I"
"00413471"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband\'s mother"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:2"
"00413472"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband\'s mother\'s sister - female in the pedigree, male in text (?)"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:3"
"00413473"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"III:2"
"00413474"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband\'s brother"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"III:3"
"00413475"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband\'s daughter"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"IV:2"
"00413476"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2019:32025184}"	"four generations of a family with adCOD; proband\'s brother\'s son"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:3"
"00419706"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"F"	""	""	""	"0"	""	""	""	"070520"
"00419707"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070924"
"00421572"	""	""	""	"1"	""	"00000"	"{PMID:Abbas 2020:32298085}"	"cell line experimets"	""	""	""	""	"0"	""	""	""	"patient A"
"00421573"	""	""	""	"1"	""	"00000"	"{PMID:Abbas 2020:32298085}"	"cell line experimets"	""	""	""	""	"0"	""	""	""	"patient B"
"00447049"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"CD-1"
"00447059"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"CD-626"
"00447148"	""	""	""	"3"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"MDS-163"
"00447157"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"MDS-401"
"00447382"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"STGD-436"
"00450690"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"079882"
"00450691"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"079883"
"00450846"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"066649"
"00450847"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"067155"
"00450848"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"070514"
"00450849"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"070515"
"00450850"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"070819"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 247
"{{individualid}}"	"{{diseaseid}}"
"00033100"	"04214"
"00033133"	"04214"
"00240437"	"00381"
"00294107"	"00198"
"00305101"	"00198"
"00308386"	"04214"
"00325448"	"04214"
"00327907"	"04214"
"00328060"	"04214"
"00328100"	"04214"
"00328220"	"04214"
"00328460"	"04214"
"00331294"	"04214"
"00332038"	"04214"
"00332039"	"04214"
"00332040"	"04214"
"00332198"	"04214"
"00333381"	"04214"
"00333419"	"04214"
"00333420"	"04214"
"00333584"	"04214"
"00333626"	"04214"
"00333627"	"04214"
"00333628"	"04214"
"00333629"	"04214"
"00333630"	"04214"
"00333636"	"04214"
"00359134"	"04214"
"00362066"	"04214"
"00362067"	"04214"
"00362894"	"04214"
"00372691"	"04214"
"00382311"	"04214"
"00382312"	"04214"
"00387622"	"04214"
"00388035"	"04214"
"00389207"	"04214"
"00389208"	"04214"
"00389729"	"04214"
"00389730"	"04214"
"00389731"	"04214"
"00389732"	"04214"
"00389818"	"04214"
"00389819"	"04214"
"00390275"	"04214"
"00390276"	"04214"
"00390277"	"04214"
"00391009"	"04214"
"00391161"	"04214"
"00391162"	"04214"
"00391163"	"04214"
"00391164"	"04214"
"00393648"	"04214"
"00393667"	"04214"
"00406297"	"04214"
"00406298"	"04214"
"00406299"	"04214"
"00406300"	"04214"
"00406360"	"04214"
"00406361"	"04214"
"00406362"	"04214"
"00406363"	"04214"
"00413256"	"04214"
"00413257"	"04214"
"00413258"	"04214"
"00413259"	"04214"
"00413260"	"04214"
"00413261"	"04214"
"00413262"	"04214"
"00413263"	"04214"
"00413264"	"04214"
"00413265"	"04214"
"00413266"	"04214"
"00413267"	"04214"
"00413268"	"04214"
"00413269"	"04214"
"00413270"	"04214"
"00413271"	"04214"
"00413272"	"04214"
"00413273"	"04214"
"00413274"	"04214"
"00413275"	"04214"
"00413276"	"04214"
"00413277"	"04214"
"00413278"	"04214"
"00413279"	"04214"
"00413280"	"04214"
"00413281"	"04214"
"00413282"	"04214"
"00413283"	"04214"
"00413284"	"04214"
"00413285"	"04214"
"00413286"	"04214"
"00413287"	"04214"
"00413288"	"04214"
"00413289"	"04214"
"00413290"	"04214"
"00413291"	"04214"
"00413292"	"04214"
"00413293"	"04214"
"00413294"	"04214"
"00413295"	"04214"
"00413296"	"04214"
"00413297"	"04214"
"00413302"	"04214"
"00413303"	"04214"
"00413304"	"04214"
"00413305"	"04214"
"00413306"	"04214"
"00413307"	"04214"
"00413308"	"04214"
"00413309"	"04214"
"00413310"	"04214"
"00413311"	"04214"
"00413312"	"04214"
"00413313"	"04214"
"00413314"	"04214"
"00413315"	"04214"
"00413316"	"04214"
"00413317"	"04214"
"00413318"	"04214"
"00413319"	"04214"
"00413324"	"04214"
"00413325"	"04214"
"00413326"	"04214"
"00413327"	"04214"
"00413328"	"04214"
"00413329"	"04214"
"00413330"	"04214"
"00413331"	"04214"
"00413332"	"04214"
"00413333"	"04214"
"00413334"	"04214"
"00413335"	"04214"
"00413336"	"04214"
"00413337"	"04214"
"00413338"	"04214"
"00413339"	"04214"
"00413340"	"04214"
"00413341"	"04214"
"00413342"	"04214"
"00413344"	"04214"
"00413345"	"04214"
"00413346"	"04214"
"00413347"	"04214"
"00413348"	"04214"
"00413349"	"04214"
"00413350"	"04214"
"00413351"	"04214"
"00413352"	"04214"
"00413353"	"04214"
"00413354"	"04214"
"00413355"	"04214"
"00413356"	"04214"
"00413357"	"04214"
"00413358"	"04214"
"00413359"	"04214"
"00413360"	"04214"
"00413361"	"04214"
"00413362"	"04214"
"00413363"	"04214"
"00413364"	"04214"
"00413365"	"04214"
"00413366"	"04214"
"00413367"	"04214"
"00413368"	"04214"
"00413369"	"04214"
"00413370"	"04214"
"00413371"	"04214"
"00413372"	"04214"
"00413373"	"04214"
"00413374"	"04214"
"00413375"	"04214"
"00413376"	"04214"
"00413377"	"04214"
"00413378"	"04214"
"00413379"	"04214"
"00413380"	"04214"
"00413381"	"04214"
"00413382"	"04214"
"00413383"	"04214"
"00413384"	"04214"
"00413385"	"04214"
"00413386"	"04214"
"00413387"	"04214"
"00413388"	"04214"
"00413389"	"04214"
"00413390"	"04214"
"00413391"	"04214"
"00413395"	"04214"
"00413396"	"04214"
"00413397"	"04214"
"00413398"	"04214"
"00413399"	"04214"
"00413400"	"04214"
"00413402"	"04214"
"00413403"	"04214"
"00413404"	"04214"
"00413405"	"04214"
"00413406"	"04214"
"00413407"	"04214"
"00413408"	"04214"
"00413409"	"04214"
"00413410"	"04214"
"00413414"	"04214"
"00413415"	"04214"
"00413416"	"04214"
"00413417"	"04214"
"00413418"	"04214"
"00413419"	"04214"
"00413421"	"04214"
"00413422"	"04214"
"00413423"	"04214"
"00413424"	"04214"
"00413425"	"04214"
"00413426"	"04214"
"00413427"	"04214"
"00413428"	"04214"
"00413429"	"04214"
"00413430"	"04214"
"00413431"	"04214"
"00413432"	"04214"
"00413433"	"04214"
"00413434"	"04214"
"00413470"	"04214"
"00413471"	"04214"
"00413472"	"04214"
"00413473"	"04214"
"00413474"	"04214"
"00413475"	"04214"
"00413476"	"04214"
"00419706"	"04214"
"00419707"	"04214"
"00421572"	"04214"
"00421573"	"04214"
"00447049"	"00198"
"00447059"	"00198"
"00447148"	"00198"
"00447157"	"00198"
"00447382"	"00198"
"00450690"	"04249"
"00450691"	"04249"
"00450846"	"04249"
"00450847"	"04249"
"00450848"	"04249"
"00450849"	"04249"
"00450850"	"04249"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00381, 02417, 04214, 04249
## Count = 245
"{{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}}"
"0000026529"	"04214"	"00033100"	"00229"	"Unknown"	"25y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026562"	"04214"	"00033133"	"00229"	"Unknown"	"6y"	"retinal degeneration, severe, early onset (EOSRD)"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000233813"	"04214"	"00308386"	"00004"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000243935"	"04214"	"00325448"	"00006"	"Unknown"	""	"cone-rod dystrophy"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246134"	"04214"	"00327907"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246287"	"04214"	"00328060"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246327"	"04214"	"00328100"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000246447"	"04214"	"00328220"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246686"	"04214"	"00328460"	"00000"	"Unknown"	"7y"	"cone/cone-rod dystrophy (HP:0000548)"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000249487"	"04214"	"00331294"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000250229"	"04214"	"00332038"	"00000"	"Familial, autosomal dominant"	"26y"	"reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline"	""	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250230"	"04214"	"00332039"	"00000"	"Familial, autosomal dominant"	"50y"	"reduced visual acuity; scotopic ERG not analyzable; photopic ERG borderline"	"47y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250231"	"04214"	"00332040"	"00000"	"Familial, autosomal dominant"	"61y"	"reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished"	"18y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250385"	"04214"	"00332198"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251568"	"04214"	"00333381"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"CRD"	""
"0000251606"	"04214"	"00333419"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"CRD"	""
"0000251607"	"04214"	"00333420"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000251768"	"04214"	"00333584"	"00000"	"Familial, autosomal dominant"	"43y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251810"	"04214"	"00333626"	"00000"	"Familial, autosomal dominant"	"46y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251811"	"04214"	"00333627"	"00000"	"Familial, autosomal dominant"	"37y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251812"	"04214"	"00333628"	"00000"	"Familial, autosomal dominant"	"35y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251813"	"04214"	"00333629"	"00000"	"Familial, autosomal dominant"	"59y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251814"	"04214"	"00333630"	"00000"	"Familial, autosomal dominant"	"72y"	"clinical category IA1bii"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000251820"	"04214"	"00333636"	"00000"	"Familial, autosomal dominant"	"29y"	"clinical category IA2e"	""	""	""	""	""	""	""	""	""	"blue cone monochromacy v achromatopsia"	""
"0000254431"	"04214"	"00359134"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000257480"	"04214"	"00362066"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257481"	"04214"	"00362067"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000258260"	"04214"	"00362894"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000267970"	"04214"	"00372691"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000276160"	"04214"	"00382311"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Macular dystrophy unspecified"	""
"0000276161"	"04214"	"00382312"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000281185"	"04214"	"00387622"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"	"Adult retinal dystrophy"	""
"0000281627"	"04214"	"00388035"	"00000"	"Familial, autosomal dominant"	""	"Retinal dystrophy"	"33y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000281628"	"04214"	"00388035"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000282748"	"04214"	"00389207"	"00000"	"Familial, autosomal dominant"	"62y"	"age at genetic diagnosis mentioned"	""	"55y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000282749"	"04214"	"00389208"	"00000"	"Familial, autosomal dominant"	"52y"	"age at genetic diagnosis mentioned"	""	"45y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000283270"	"04214"	"00389729"	"00000"	"Familial, autosomal dominant"	"55y"	"age at genetic diagnosis mentioned"	""	"49y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283271"	"04214"	"00389730"	"00000"	"Familial, autosomal dominant"	"53y"	"age at genetic diagnosis mentioned"	""	"47y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283272"	"04214"	"00389731"	"00000"	"Familial, autosomal dominant"	"52y"	"age at genetic diagnosis mentioned"	""	"46y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283273"	"04214"	"00389732"	"00000"	"Familial, autosomal dominant"	"87y"	"age at genetic diagnosis mentioned"	""	"81y"	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000283359"	"04214"	"00389818"	"00000"	"Familial, autosomal dominant"	"32y"	"age at genetic diagnosis mentioned"	""	"30y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283360"	"04214"	"00389819"	"00000"	"Familial, autosomal dominant"	"7y"	"age at genetic diagnosis mentioned"	""	"6y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283813"	"04214"	"00390275"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283814"	"04214"	"00390276"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283815"	"04214"	"00390277"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284497"	"04214"	"00391009"	"00000"	"Familial, autosomal recessive"	"26y-30y"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy (COD)"	""
"0000284603"	"04214"	"00391161"	"00000"	"Unknown"	"26y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284604"	"04214"	"00391162"	"00000"	"Unknown"	"30y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284605"	"04214"	"00391163"	"00000"	"Unknown"	"49y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284606"	"04214"	"00391164"	"00000"	"Unknown"	"58y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000286854"	"04214"	"00393648"	"00000"	"Isolated (sporadic)"	"33y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000286873"	"04214"	"00393667"	"00000"	"Familial, autosomal dominant"	"37y"	""	""	""	""	""	""	""	""	""	""	"Cone-rod Dystrophy (CORD)"	""
"0000298795"	"04214"	"00406297"	"00000"	"Familial, autosomal recessive"	"57y"	"best corrected visual acuity right/left eye: 0.04; 0.04, refraction: +2.25 sph -0.5 cyl 160deg +2.75 sph, progressive, severe color confusions"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298796"	"04214"	"00406298"	"00000"	"Familial, autosomal recessive"	"51y"	"best corrected visual acuity right/left eye: 0.7; 0.5, refraction: +4.0 sph -2.5 cyl 2deg +3.75 sph -2.5 cyl 7deg, progressive, tritan defect"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298797"	"04214"	"00406299"	"00000"	"Familial, autosomal recessive"	"47y"	"best corrected visual acuity right/left eye: 0.1; 0.08, refraction: +3.25 sph -2.5 cyl 2deg +2.5 sph -0.75 cyl 97deg, progressive, severe color confusions"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298798"	"04214"	"00406300"	"00000"	"Familial, autosomal recessive"	"35y"	"best corrected visual acuity right/left eye: 0.3; 0.2, refraction: +4.0 sph -0.75 cyl 45deg +3.5 sph -0.5 cyl 127deg, progressive, tritan-tetartan defect, Brown syndrome"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298847"	"04214"	"00406360"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298848"	"04214"	"00406361"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298849"	"04214"	"00406362"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000298850"	"04214"	"00406363"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305237"	"04214"	"00413256"	"00000"	"Familial, autosomal dominant"	"88y"	"best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal for age, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased"	"31y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305238"	"04214"	"00413257"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased"	"35y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305239"	"04214"	"00413258"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right, left eye: 20/120, 20/120; electro-oculogram: normal; electroretinograms: pattern: decreased, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decraased, implicit time: normal; pathway response, ON: decreased, OFF: decreased"	"25y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305240"	"04214"	"00413259"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased"	"30y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305241"	"04214"	"00413260"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right, left eye: 20/40, 20/60; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased"	"33y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305242"	"04214"	"00413261"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right, left eye: 20/120, 20/120; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased"	"26y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305243"	"04214"	"00413262"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity right, left eye: 20/30, 20/30; electro-oculogram: normal; electroretinograms: pattern: decreased, right eye, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: normal, implicit time: normal; pathway response, ON: normal, OFF: normal"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305244"	"04214"	"00413263"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity right, left eye: 20/120, 20/120; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: normal, implicit time: normal; pathway response, ON: not performed, OFF: not performed"	"16y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305245"	"04214"	"00413264"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right, left eye: 20/30, 20/30; electro-oculogram: normal; electroretinograms: pattern: decreased, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: normal, implicit time: normal; pathway response, ON: not performed, OFF: not performed"	"56y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305246"	"04214"	"00413265"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right, left eye: 20/40, 20/40; electro-oculogram: not performed; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: not performed, OFF: not performed"	"39y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305247"	"04214"	"00413266"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right, left eye: 20/60, 20/40; electro-oculogram: extinguished light rise; electroretinograms: pattern: absent, rod: amplitude decreased, implicit time normal, bright white flash: amplitude decreased, implicit time normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: increased; pathway response, ON: not performed, OFF: not performed"	"16y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305248"	"04214"	"00413267"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305249"	"04214"	"00413268"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305250"	"04214"	"00413269"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305251"	"04214"	"00413270"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305252"	"04214"	"00413271"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305253"	"04214"	"00413272"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305254"	"04214"	"00413273"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305255"	"04214"	"00413274"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305256"	"04214"	"00413275"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305257"	"04214"	"00413276"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305258"	"04214"	"00413277"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305259"	"04214"	"00413278"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305260"	"04214"	"00413279"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305261"	"04214"	"00413280"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305262"	"04214"	"00413281"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305263"	"04214"	"00413282"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305264"	"04214"	"00413283"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305265"	"04214"	"00413284"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305266"	"04214"	"00413285"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305267"	"04214"	"00413286"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305268"	"04214"	"00413287"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305269"	"04214"	"00413288"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305270"	"04214"	"00413289"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305271"	"04214"	"00413290"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305272"	"04214"	"00413291"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes; individual V:6 electroretinograms: under standard stimulation and recording conditions: amplitude of the b-wave: normal; response of the dark-adapted eye to a high-intensity stimulus flash: negative-polarity a-wave: normal, positive b-wave - at or slightly below the normal range; light-adapted conditions to isolate the cone response: amplitude of the cone electroretinogram falls well below the lower limit of the normal range"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305273"	"04214"	"00413292"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305274"	"04214"	"00413293"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305275"	"04214"	"00413294"	"00000"	"Familial, autosomal dominant"	""	"general family description: decreased visual acuity, color vision defects, and photophobia: 8-24y (mean: 16y); visual loss progress, during the next two decades, until visual acuity is between 20/200 and 20/400; fundus: central macular lesion with pigmentary changes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305276"	"04214"	"00413295"	"00000"	"Familial, autosomal dominant"	"45y"	"45y: photophobia, visual acuity: 20/300 both eyes, absent color vision, and small regions of retinal atrophy in the center of the macula of both eyes; electroretinogram: minimal if any 30-Hz cone responses and intact 0.5-Hz rod responses to blue or white light; early receptor potential amplitudes after a bleaching light recovered at a rate slower than normal and corresponded to the normal rate of rhodopsin regeneration, indicating little to no cone function; eye obtained at autopsy at age 75y - absence of rod and cone photoreceptors in the central macula; some degenerating photoreceptor inner and outer segments in the parafoveal region, in the periphery, rod photoreceptors intact and normal in number, and a few intact cone photoreceptors also present"	""	""	""	"persistent stimulation of guanylate cyclase by the mutant proteins"	""	""	""	""	"cone dystrophy"	""	""
"0000305277"	"04214"	"00413296"	"00000"	"Familial, autosomal dominant"	"25y"	"15y: visual acuity:20/20 in both eyes; cone function severely compromised, as indicated by absent color vision (inability to arrange the Farnsworth D-15 panel or to correctly identify Hardy-Rand-Rittler (HRR) color plates); 25y: electroretinogram: minimal if any 30-Hz cone responses and intact 0.5-Hz rod responses to blue or white light; early receptor potential amplitudes after a bleaching light recovered at a rate slower than normal and corresponded to the normal rate of rhodopsin regeneration, indicating little to no cone function"	""	""	""	"persistent stimulation of guanylate cyclase by the mutant proteins"	""	""	""	""	"cone dystrophy"	""	""
"0000305278"	"04214"	"00413297"	"00000"	"Isolated (sporadic)"	"29y"	"29y: electroretinogram: rod amplitudes reduced approximately 70%-75% below the lower limit of normal, cone amplitudes reduced only approximately 65% below the lower limit of normal; reduction in rod and cone ERG amplitudes was very different from that found in previously reported patients with GUCA1A mutations"	""	""	""	""	""	""	""	""	"atypical retinal degeneration"	""	""
"0000305284"	"04214"	"00413302"	"00000"	"Familial, autosomal dominant"	"23y"	"10y: best corrected visual acuity right, left eye: 20/25, 20/25; electroretinogram, photopic (% amp): minimal, scotopic (% amp): borderline; hemeralopia; color deficit: severe; 23y: best corrected visual acuity right, left eye: 20/40, 20/40; electroretinogram, photopic: nonrecordable, scotopic: 0."	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305285"	"04214"	"00413303"	"00000"	"Familial, autosomal dominant"	"57y"	"40y: best corrected visual acuity right, left eye: 20/60, 20/200; electroretinogram, photopic: minimal, scotopic: 0.5; visual field defect: central; hemeralopia; color deficit: severe; 57y: best corrected visual acuity right, left eye: 20/400, 20/400; electroretinogram, photopic: nonrecordable, scotopic: nonrecordab"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305286"	"04214"	"00413304"	"00000"	"Familial, autosomal dominant"	"38y"	"33y: best corrected visual acuity right, left eye: 20/160, 20/50; electroretinogram, photopic: 0.2, scotopic: 0.37; visual field defect: central, paracentral; hemeralopia; color deficit: severe; 38y: best corrected visual acuity right, left eye: 20/200, 20/50; electroretinogram, photopic: nonrecordable, scotopic: 0."	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305287"	"04214"	"00413305"	"00000"	"Familial, autosomal dominant"	"58y"	"58y: best corrected visual acuity right, left eye: 20/400, 20/400; color deficit: seve"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305288"	"04214"	"00413306"	"00000"	"Familial, autosomal dominant"	"35y"	"27y: best corrected visual acuity right, left eye: 20/40, 20/30; color deficit: severe; 35y: best corrected visual acuity right, left eye: 20/50, 20/"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305289"	"04214"	"00413307"	"00000"	"Familial, autosomal dominant"	"85y"	"85y: best corrected visual acuity right, left eye: light perception, light perception; color deficit: unab"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305290"	"04214"	"00413308"	"00000"	"Familial, autosomal dominant"	"36y"	"36y: best corrected visual acuity right, left eye: 20/40, 20/40; color deficit: seve"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305291"	"04214"	"00413309"	"00000"	"Familial, autosomal dominant"	"37y"	"26y: best corrected visual acuity right, left eye: 20/40, 20/50; electroretinogram, photopic: slightly reduced, scotopic: borderline; visual field defect: central; no hemeralopia; color deficit: severe; 37y: best corrected visual acuity right, left eye: 20/63, 20/"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305292"	"04214"	"00413310"	"00000"	"Familial, autosomal dominant"	"61y"	"40y: best corrected visual acuity right, left eye: 20/60, 20/50; electroretinogram, photopic: no red, scotopic: normal; visual field defect: none; hemeralopia; color deficit: severe; 61y: best corrected visual acuity right, left eye: 20/125, 20/1"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305293"	"04214"	"00413311"	"00000"	"Familial, autosomal dominant"	"38y"	"17y: best corrected visual acuity right, left eye: 20/30, 20/40; electroretinogram, photopic: no red 13%; no fiicker, scotopic: normal; visual field defect: paracentral; hemeralopia; color deficit: moderate; 38y: best corrected visual acuity right, left eye: 20/50, 20/50; electroretinogram, scotopic:"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305294"	"04214"	"00413312"	"00000"	"Familial, autosomal dominant"	"18y"	"18y: best corrected visual acuity right, left eye: 20/25, 20/25; color deficit: seve"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305295"	"04214"	"00413313"	"00000"	"Familial, autosomal dominant"	"17y"	"17y: best corrected visual acuity right, left eye: 20/20, 20/20; electroretinogram, photopic: delayed implicit time, scotopic: normal; color deficit: seve"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305296"	"04214"	"00413314"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right, left eye: counting fingers, counting fingers; fundus: bilateral macular atrophy, more marked in the left than right eye; fundus autofluorescence: bilateral decreased autofluorescence corresponding to atrophy seen on ophthalmoscopy, with areas of relative increased autofluorescence at the right macula; electroretinogram: cone responses more markedly reduced than rod; pattern electroretinogram: absent; color vision: absent"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305297"	"04214"	"00413315"	"00000"	"Familial, autosomal dominant"	"74y"	"best corrected visual acuity right, left eye: 3/36, counting fingers; fundus: bilateral macular atrophy, more marked in the left than right eye; fundus autofluorescence: bilateral decreased autofluorescence corresponding to atrophy seen on ophthalmoscopy; electroretinogram: cone responses more markedly reduced than rod; pattern electroretinogram: absent; color vision: absent"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305298"	"04214"	"00413316"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right, left eye: 6/12, 6/9; fundus: bilateral mild macular retinal pigment epithelium changes; fundus autofluorescence: bilateral localized increased macular autofluorescence; electroretinogram: normal; pattern electroretinogram: markedly reduced; color vision: not available"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305299"	"04214"	"00413317"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right, left eye: 6/24, 6/12; fundus: bilateral macular retinal pigment epithelium changes with areas of atrophy and pigmentation; fundus autofluorescence: bilateral localized areas of increased macular autofluorescence; electroretinogram: mild reduction in cone responses; pattern electroretinogram: absent; color vision: bilateral moderate protan, deutan, and tritan defects"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305300"	"04214"	"00413318"	"00000"	"Familial, autosomal dominant"	"53y"	"best corrected visual acuity right, left eye: 6/9, 6/12; fundus: bilateral macular retinal pigment epithelium changes with areas of atrophy & pigmentation; left right eye; fundus autofluorescence: bilateral localized areas of increased macular autofluorescence; electroretinogram: markedly reduced cone responses; pattern electroretinogram: absent; color vision: absent"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305301"	"04214"	"00413319"	"00000"	"Familial, autosomal dominant"	"43y"	"best corrected visual acuity right, left eye: 6/9, 6/12; fundus: bilateral macular retinal pigment epithelium changes with areas of atrophy; left>right eye; fundus autofluorescence: bilateral localized area of increased ; electroretinogram: reduced cone and rod responses ; pattern electroretinogram: left: absent; right: markedly reduced; color vision: absent"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305303"	"04214"	"00413324"	"00000"	"Familial, autosomal dominant"	"45y"	"33y: best corrected visual acuity right, left eye: 20/200, 20/80; refraction right, left eye: -2.00 +3.00 x 095; -2.00 +3.00 x 082; 38y: best corrected visual acuity right, left eye dropped 20/320, 20/250; 42y: 20/400, 20/ 400; 45y: 20/500, 20/500; Humphrey visual fields: dense central scotoma which enlarged over time with near normal sensitivity in the peripheral retina; elevated visual thresholds 7deg below fixation following 45 min of dark-adaptation: 0.1 log unit 33y, within normal limits 38 and 32y, 45y: elevated 0.1 log unit; full-field electroretinography: rod responses reduced 40% in amplitude compared to the lower limit of normal, and borderline delayed in b-wave implicit time (89.6 ms vs. upper limit of normal of 88.2 ms), mixed rod and cone combined electroretinograms: reduced 40% in amplitude (compared to the lower limit of normal; cone responses to the 30 Hz flicker: reduced 65% in amplitude compared to the lower limit of normal, b-wave implicit time of 34.4 ms - only slightly delayed relative to the upper limit of normal (31.5 ms), single-flash cone electroretinogram: 70% reduced in amplitude and borderline normal in b-wave implicit time; 12 years of follow-up: rod responses fluctuated in amplitude but showed no clear trend toward progression, cone responses declined progressively at a slow rate of 0.66 lV (5%) per year, full recovery functions compared to the representative normal subject: (Tsat = 520 ms) and a mean normal of 490.1 ± 111.2 ms - 889 ms - large delay"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305304"	"04214"	"00413325"	"00000"	"Familial, autosomal dominant"	"47y"	"47y: best corrected visual acuity right, left eye: 20/320, 20/200,  refraction right, left eye:: -5.00 +3.75 x 113; -3.50 +2.00 x 077; Humphrey visual fields: dense central scotoma with near normal sensitivity in the peripheral retina; visual thresholds 7deg below fixation following 45 min of dark-adaptation: within the normal range; 47y: full-field electroretinography: rod response reduced in amplitude by 76%, cone responses to 30 Hz flicker and single flashes: reduced in amplitude by greater than 99%, both rod and cone responses borderline delayed in b-wave implicit time, full recovery functions compared to the representative normal subject: (Tsat = 520 ms) and a mean normal of 490.1 ± 111.2 ms - 802 ms - large delay"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305305"	"04214"	"00413326"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305306"	"04214"	"00413327"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right/left eye: 0.4/0.5, color vision: PD15 sat: scotopic defect; glare sensitivity: increased; night vision: normal; additional fundus findings: mild macular pigment changes; visual field: center: reduced sensitivity, periphery: normal; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, normal, normal, normalphotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, prolonged, normal, normal; multifocal electroretinogram: central and ring 2 + 3 reduced amplitude , normal implicit time"	"20y"	""	""	""	""	""	""	""	"cone dystrophy / macular dystrophy"	""	""
"0000305307"	"04214"	"00413328"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right/left eye: hand movement/0.5, color vision: no information; glare sensitivity: no information; night vision: no information; additional fundus findings: ; visual field: center: no information, periphery: no information; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, normal, no information,  no information, photopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): borderline normal, borderline normal, borderline normal, borderline normal; multifocal electroretinogram: no information"	""	""	""	""	""	""	""	""	"cone dystrophy and glaucoma"	""	""
"0000305308"	"04214"	"00413329"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye: 1.0/1.0, color vision: PD15 sat: tritan defect, anomalo -scope: protanomaly; glare sensitivity: increased; night vision: normal; additional fundus findings: normal fundus; visual field: center: normal, periphery: normal; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, normal, normal, normalphotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, prolonged, normal, normal; multifocal electroretinogram: no information"	"15y"	""	""	""	""	""	""	""	"cone dystrophy / mild maculopathy"	""	""
"0000305309"	"04214"	"00413330"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right/left eye: 0.05/0.1, color vision: PD15 sat: protan and tritan defect, anomalo -scope: protanomaly; glare sensitivity: increased; night vision: normal; additional fundus findings: fine granular retinal pigment atrophy; visual field: center: central scotoma, periphery: normal ; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, normal, normal, normalphotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, prolonged, no information, no information; multifocal electroretinogram: no information"	"20y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305310"	"04214"	"00413331"	"00000"	"Familial, autosomal dominant"	"67y"	"best corrected visual acuity right/left eye: 0.05/0.1, color vision: PD15 sat: protan/ deutan defect; glare sensitivity: increased; night vision: normal; additional fundus findings: central geographic atrophy, periphery normal; visual field: center: central scotoma, periphery: normal; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): borderline normal, borderline normal, no information, no information, photopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): severely reduced, prolonged, no information, no information; multifocal electroretinogram: no information"	"25y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305311"	"04214"	"00413332"	"00000"	"Familial, autosomal dominant"	"55y"	"best corrected visual acuity right/left eye: 0.05/0.05, color vision: PD15 desat: no colour differen ces detected; glare sensitivity: increased; night vision: normal; additional fundus findings: central geographic atrophy, periphery normal, pale temporal optic disc, bilateral; visual field: center: central scotoma, periphery: normal ; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): normal, normal, borderline normal, normalphotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): reduced, prolonged, reduced, prolonged; multifocal electroretinogram: central ring no responses, ring 2-3 severely reduced, ring 4-5 moderately reduced responses, delayed implicit time"	"26y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305312"	"04214"	"00413333"	"00000"	"Familial, autosomal dominant"	"81y"	"best corrected visual acuity right/left eye: 0.05/hand movement, color vision: no information; glare sensitivity: increased; night vision: no information; additional fundus findings: central geographic atrophy, peripheral few bone spicules, bilateral; visual field: center:, periphery: central scotoma prior to narrowing of peripheral visual field; full field electroretinography, scotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): extinguished, extinguished, reduced, prolongedphotopic (rod response: amplitude; implicit time; mixed rod-cone response: amplitude; implicit time): extinguished, extinguished, extinguished, extinguished; multifocal electroretinogram: no information"	"20y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305313"	"04214"	"00413334"	"00000"	"Familial, autosomal dominant"	"75y"	"color vision deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.05 / 0.05; refractive error: +0.50 -2.50 90deg / +0.50 -2.00 80deg; visual field right/left eye: central scotomas / central and peripheral scotomas; electroretinography amplitudes scotopic / photopic: low amplitudes / nonrecordable; electroretinography implicit time scotopic / photopic: normal / nonrecordable; multifocal electroretinography: nonrecordable or diminished responses ; electrooculogram: normal; optical coherence tomography: not performed; anterior segment: pseudophakia in both eyes"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305314"	"04214"	"00413335"	"00000"	"Familial, autosomal dominant"	"53y"	"mild color vision deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.05 / 0.05; refractive error: +050 -100 165deg / +050 -075 15deg; visual field right/left eye: central and peripheral scotomas / peripheral scotomas; electroretinography amplitudes scotopic / photopic: normal / low amplitudes; electroretinography implicit time scotopic / photopic: normal / augmented; multifocal electroretinography: nonrecordable or diminished responses; electrooculogram: normal; optical coherence tomography: neurosensorial atrophy; anterior segment: normal in both eyes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305315"	"04214"	"00413336"	"00000"	"Familial, autosomal dominant"	"47y"	"color vision deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.1 / 0.1; refractive error: +0.75 -0.50 130deg /  +0.75 -0.50 50deg; visual field right/left eye: central and superior scotoma both eyes; electroretinography amplitudes scotopic / photopic: normal / normal; electroretinography implicit time scotopic / photopic: normal / mixed: augmented; multifocal electroretinography: diminished responses; electrooculogram: normal; optical coherence tomography: not performed; anterior segment: normal in both eyes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305316"	"04214"	"00413337"	"00000"	"Familial, autosomal dominant"	"25y"	"mild color deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.3 / 0.3; refractive error: -6.00 -3.50 180deg /  -5.00 -3.75 180deg; visual field right/left eye: central and peripheral scotomas both eyes; electroretinography amplitudes scotopic / photopic: normal / very low amplitudes; electroretinography implicit time scotopic / photopic: normal / augmented; multifocal electroretinography: diminished responses; electrooculogram: normal; optical coherence tomography: neurosensorial atrophy; anterior segment: normal in both eyes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305317"	"04214"	"00413338"	"00000"	"Familial, autosomal dominant"	"12y"	"photophobia, no night blindness; best corrected visual acuity right/left eye: 0.4 / 0.4; refractive error: +0.50 -0.50 110deg /  +0.50 -0.75 85deg; visual field right/left eye: normal / central low density scotoma; electroretinography amplitudes scotopic / photopic: normal / low amplitudes; electroretinography implicit time scotopic / photopic: normal / augmented; multifocal electroretinography: diminished responses; electrooculogram: normal; optical coherence tomography: not performed; anterior segment: normal in both eyes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305318"	"04214"	"00413339"	"00000"	"Familial, autosomal dominant"	"38y"	"color vision deficiency, photophobia, no night blindness; best corrected visual acuity right/left eye: 0.7 / 0.6; refractive error: not performed; visual field right/left eye: central scotoma; electroretinography amplitudes scotopic / photopic: low amplitudes / low amplitudes; electroretinography implicit time scotopic / photopic: not performed; multifocal electroretinography: not performed; electrooculogram: not performed; optical coherence tomography: sparse retinal pigment epithelium alteration at the macula; anterior segment: normal in both eyes"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305319"	"04214"	"00413340"	"00000"	"Familial, autosomal dominant"	"49y"	"best corrected visual acuity right, left eye: 20/400,20/300; symptoms: nystagmus, vision decline"	"4y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305320"	"04214"	"00413341"	"00000"	"Familial, autosomal dominant"	"51y"	"best corrected visual acuity right, left eye: 20/400,20/400; symptoms: vision decline"	"5y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305321"	"04214"	"00413342"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity right, left eye: 20/400,20/150; symptoms: vision decline"	"9y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305322"	"04214"	"00413344"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305323"	"04214"	"00413345"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: <20/200, <20/200"	"3y"	""	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305324"	"04214"	"00413346"	"00000"	"Familial, autosomal dominant"	"88y"	"best corrected visual acuity right, left eye: <20/200, <20/200"	"5y"	"40y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305325"	"04214"	"00413347"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right, left eye: 20/400, 20/400"	"20y"	"16y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305326"	"04214"	"00413348"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right, left eye: <20/300, <20/300"	"28y"	"32y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305327"	"04214"	"00413349"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right, left eye: 20/200, 20/400"	"11y"	"32y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305328"	"04214"	"00413350"	"00000"	"Familial, autosomal dominant"	"52y"	"best corrected visual acuity right, left eye: 20/400, 20/400"	"8y"	"16y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305329"	"04214"	"00413351"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right, left eye: 20/40, 20/50"	"24y"	"24y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305330"	"04214"	"00413352"	"00000"	"Familial, autosomal dominant"	"24y"	"best corrected visual acuity right, left eye: 20/40, 20/40"	"8y"	"24y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305331"	"04214"	"00413353"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right, left eye: 20/40, 20/40"	"26y"	"32y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305332"	"04214"	"00413354"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right, left eye: 20/400, 20/200"	"14y"	"25y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305333"	"04214"	"00413355"	"00000"	"Familial, autosomal dominant"	"39y"	"best corrected visual acuity right, left eye: 20/30, 20/30"	"27y"	"27y"	"photophobia, decreased color vision, and decreased visual acuity."	""	""	""	""	""	"cone dystrophy"	""	""
"0000305334"	"04214"	"00413356"	"00000"	"Familial, autosomal dominant"	"8y"	"best corrected visual acuity right, left eye: 20/20, 20/20"	""	"6y"	"asymptomatic"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305335"	"04214"	"00413357"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305336"	"04214"	"00413358"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305337"	"04214"	"00413359"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305338"	"04214"	"00413360"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305339"	"04214"	"00413361"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305340"	"04214"	"00413362"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305341"	"04214"	"00413363"	"00000"	"Familial, autosomal dominant"	""	"whole family general description: initial symptom of reduced visual acuity associated with loss of colour vision apparent 20-40y; changes at the level of the retinal pigment epithelium at the macula identified prior to visual loss, central atrophy developed with time; visual field: central loss, preservation of peripheral visual fields, even in late disease; significant generalized loss of cone function -  reduction in photopic electroretinograms, and central retinal involvement (reduction in pattern electroretinograms); flicker responses: reduced, normal implicit time; rod and the maximal dark adapted single white flash responses - low amplitude, but not markedly subnormal; in most members of the family the electro-oculogram (EOG) light induced rise - normal, but in some the rise was high (+375%)"	""	""	"reduced visual acuity associated with loss of colour vision"	""	""	""	""	""	"cone dystrophy"	""	""
"0000305342"	"04214"	"00413364"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right/left eye: 0.4/0.1; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: yes; visual field: central dysfunction; full field electroretinography: scotopic normal, photopic  normal; multifocal electroretinogram: not available; electrooculogram: not available; comments: no evidence of peripheral cone dysfunction"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305343"	"04214"	"00413365"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye: 1.0/0.8; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: yes; visual field: small paracentral dysfunction; full field electroretinography: scotopic normal, photopic  normal; multifocal electroretinogram: not available; electrooculogram: not available; comments: no evidence of peripheral cone dysfunction"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305344"	"04214"	"00413366"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity right/left eye: 1.0/1.0; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: yes; visual field: paracentral dysfunction; full field electroretinography: scotopic normal, photopic  normal; multifocal electroretinogram: not available; electrooculogram: not available; comments: no evidence of peripheral cone dysfunction"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305345"	"04214"	"00413367"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity right/left eye: 1.0/1.0; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: yes; visual field: small paracentral dysfunction; full field electroretinography: scotopic normal, photopic  normal; multifocal electroretinogram: not available; electrooculogram: not available; comments: no evidence of peripheral cone dysfunction"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305346"	"04214"	"00413368"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"macular dystrophy/cone dystrophy"	""	""
"0000305347"	"04214"	"00413369"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right/left eye: 0.1/0.1; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: yes; visual field: central dysfunction; full field electroretinography: scotopic normal, photopic  reduced amplitudes; multifocal electroretinogram: diminished central responses; electrooculogram: normal; comments: slow progression from macular to peripheral cone dysfunction"	""	""	""	""	""	""	""	""	"macular dystrophy/cone dystrophy"	""	""
"0000305348"	"04214"	"00413370"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye: not available; macular retinal pigment epithelium changes: no; reduction of foveal outer nuclear layer thickness: yes; visual field: central dysfunction; full field electroretinography: scotopic normal, photopic  reduced amplitudes and slightly prolonged implicit times; multifocal electroretinogram: diminished central responses; electrooculogram: normal; comments: slow progression from macular to peripheral cone dysfunction"	""	""	""	""	""	""	""	""	"macular dystrophy/cone dystrophy"	""	""
"0000305349"	"04214"	"00413371"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"macular dystrophy/cone dystrophy"	""	""
"0000305350"	"04214"	"00413372"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right/left eye: not available; macular retinal pigment epithelium changes: not available; reduction of foveal outer nuclear layer thickness: not available; visual field: central dysfunction; full field electroretinography: scotopic normal, photopic  normal; multifocal electroretinogram: diminished central responses; electrooculogram: normal"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305351"	"04214"	"00413373"	"00000"	"Familial, autosomal dominant"	"49y"	"best corrected visual acuity right/left eye: 0.6/0.6; macular retinal pigment epithelium changes: yes; reduction of foveal outer nuclear layer thickness: not available; visual field: paracentral dysfunction; full field electroretinography: right eye: scotopic and photopic normal, left eye: scotopic and photopic reduced amplitudes; multifocal electroretinogram: diminished central responses, slightly diminished peripheral responses ; electrooculogram: normal; comments: rod involvement in the left eye"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305352"	"04214"	"00413374"	"00000"	"Familial, autosomal dominant"	"70y"	"best corrected visual acuity right/left eye: finger count/finger count; refractive errors right/left eye: +2.25DS/+0.75DC*15/+1.25DS/+1.20DC*75; color anomaly; grades of maculopathy right/left eye: IV/IV"	"<25y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305353"	"04214"	"00413375"	"00000"	"Familial, autosomal dominant"	"66y"	"best corrected visual acuity right/left eye: 0.12/0.1; refractive errors right/left eye: +0.25DS/+0.50DC*85/+1.75DS/-2.00DC*165; color anomaly; grades of maculopathy right/left eye: III/IV"	"<35y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305354"	"04214"	"00413376"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right/left eye: finger count/finger count; refractive errors right/left eye: +0.75DS/-0.75DC*40/+0.25DS/+1.00DC*5; color anomaly; grades of maculopathy right/left eye: III/III"	">20y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305355"	"04214"	"00413377"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right/left eye: finger count/finger count; refractive errors right/left eye: +0.75DS/-1.75DC*100/+0.25DS/+0.75DC*175; color anomaly; grades of maculopathy right/left eye: IV/IV"	"27y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305356"	"04214"	"00413378"	"00000"	"Familial, autosomal dominant"	"49y"	"best corrected visual acuity right/left eye: 0.12/0.1; refractive errors right/left eye: +1.00DS/-0.50DC*5/+0.50DS/+0.75DC*125; color anomaly; grades of maculopathy right/left eye: III/III"	"33y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305357"	"04214"	"00413379"	"00000"	"Familial, autosomal dominant"	"57y"	"best corrected visual acuity right/left eye: 0.1/finger count; refractive errors right/left eye: +1.50DS/-1.50DC*85/+0.25DS/+0.75DC*180; color anomaly; grades of maculopathy right/left eye: III/III"	"40y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305358"	"04214"	"00413380"	"00000"	"Familial, autosomal dominant"	"55y"	"best corrected visual acuity right/left eye: 0.4/0.5; refractive errors right/left eye: +1.25DS/-1.75DC*15/+0.25DS/-1.00DC*95; color anomaly; grades of maculopathy right/left eye: II/II"	"30y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305359"	"04214"	"00413381"	"00000"	"Familial, autosomal dominant"	"53y"	"best corrected visual acuity right/left eye: 0.1/0.08; refractive errors right/left eye: +0.25DS/-0.50DC*85/+0.25DS/-0.50DC*85; color anomaly; grades of maculopathy right/left eye: IV/IV"	"24y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305360"	"04214"	"00413382"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right/left eye: 0.5/0.4; refractive errors right/left eye: +0.50DS/-1.00DC*20/+1.50DS/-1.00DC*90; color anomaly; grades of maculopathy right/left eye: II/II"	"39y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305361"	"04214"	"00413383"	"00000"	"Familial, autosomal dominant"	"43y"	"best corrected visual acuity right/left eye: 0.6/0.8; refractive errors right/left eye: -1.00DS/-1.00DS/-0.50DC*125 ; color anomaly; grades of maculopathy right/left eye: I/I"	"38y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305362"	"04214"	"00413384"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right/left eye: 0.12/0.2; refractive errors right/left eye: +1.25DS/-0.50DC*25/+0.25DS/-1.50DC*95; color anomaly; grades of maculopathy right/left eye: III/III"	"28y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305363"	"04214"	"00413385"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right/left eye: 0.12/0.12; refractive errors right/left eye: -0.25DS/-0.50DC*50 ; color anomaly; grades of maculopathy right/left eye: III/III"	"29y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305364"	"04214"	"00413386"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right/left eye: 0.12/0.15; refractive errors right/left eye: +0.25DS/-0.25DC*110/-0.50DC*80; color anomaly; grades of maculopathy right/left eye: III/III"	"32y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305365"	"04214"	"00413387"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity right/left eye: 0.6/1; refractive errors right/left eye: -0.75DS/-0.50DC*110/-1.25DS/-0.50DC*130; color anomaly; grades of maculopathy right/left eye: I/I"	"29y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305366"	"04214"	"00413388"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right/left eye: 1/1; refractive errors right/left eye: -0.75DS/-0.25DC*95/-0.25DS/-0.50DC*105; no color anomaly; grades of maculopathy right/left eye: I/I"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305367"	"04214"	"00413389"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity right/left eye: 0.5/0.25; refractive errors right/left eye: -1.75DS/-0.50DC*120/-2.50DS/-0.5DC*180; color anomaly; grades of maculopathy right/left eye: III/III"	"23y"	""	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000305368"	"04214"	"00413390"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye: 0.6/0.6; refractive errors right/left eye: -2.50DS/-0.25DC*175/-1.75DS/-0.50DC*90; color anomaly; grades of maculopathy right/left eye: II/II"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305369"	"04214"	"00413391"	"00000"	"Familial, autosomal dominant"	"13y"	"best corrected visual acuity right/left eye: 1/1; refractive errors right/left eye: -0.50DS/-0.25DC*130/-1.25DS; no color anomaly; grades of maculopathy right/left eye: I/I"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305371"	"04214"	"00413395"	"00000"	"Familial, autosomal dominant"	"53y"	"best corrected visual acuity [refraction] right, left eye:0.05 [+2.25(-1,00)135deg], 0.05 [+3.00(-1,00)65deg]; symptoms: photophobia, moderate night blindness"	"25y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305372"	"04214"	"00413396"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity [refraction] right, left eye:0.1 [+0.50(-0,50)160deg], 0.1 [+0.25]; symptoms: photophobia, moderate night blindness"	"25y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305373"	"04214"	"00413397"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity [refraction] right, left eye:0.6 [-0.50], 0.6 [-0.50]; symptoms: no night blindness, photophobia"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305374"	"04214"	"00413398"	"00000"	"Familial, autosomal dominant"	"63y"	"best corrected visual acuity [refraction] right, left eye:0.05 [+4.75], 0.05 [+4.00(-0.50)135deg]; symptoms: no night blindness, photophobia, stopped driving at 45"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305375"	"04214"	"00413399"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity [refraction] right, left eye:0.16 [-2.50(-1,75)120deg], 0.10 [-2.50(-1,25)165deg]; symptoms: no night blindness, photophobia"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305376"	"04214"	"00413400"	"00000"	"Familial, autosomal dominant"	"9y"	"best corrected visual acuity [refraction] right, left eye:0.9 [+2.50(-2,25)115deg], 0.9 [+2.75(-3,00)70deg]; symptoms: no night blindness, photophobia"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305377"	"04214"	"00413402"	"00000"	"Familial, autosomal dominant"	"67y"	"best corrected visual acuity right, left eye: 20/200, 20/300; electroretinography (% amp), photopic/scotopic: 30 / 50; Goldmann visual field: central scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305378"	"04214"	"00413403"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right, left eye: 20/200, 20/150; electroretinography (% amp), photopic/scotopic: 15 / 40; Goldmann visual field: central scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305379"	"04214"	"00413404"	"00000"	"Familial, autosomal dominant"	"57y"	"best corrected visual acuity right, left eye: 20/150, 20/150; electroretinography (% amp), photopic/scotopic: 50 / 100; Goldmann visual field: central scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305380"	"04214"	"00413405"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right, left eye: 20/400, 20/200; electroretinography (% amp), photopic/scotopic: 0 / 0; Goldmann visual field: central scotoma and peripheral constriction"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305381"	"04214"	"00413406"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right, left eye: 20/70, 20/100; electroretinography (% amp), photopic/scotopic: 30 / 100; Goldmann visual field: central scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305382"	"04214"	"00413407"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right, left eye: 20/150, 20/150; electroretinography (% amp), photopic/scotopic:  / ; Goldmann visual field: central scotoma and peripheral constriction"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305383"	"04214"	"00413408"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right, left eye: 20/40, 20/40; electroretinography (% amp), photopic/scotopic: 80 / 100; Goldmann visual field: small central scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305384"	"04214"	"00413409"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right, left eye: 20/20, 20/20; electroretinography (% amp), photopic/scotopic: 100 / 100; Goldmann visual field: small central scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305385"	"04214"	"00413410"	"00000"	"Familial, autosomal dominant"	"12y"	"best corrected visual acuity right, left eye: 20/30, 20/25; electroretinography (% amp), photopic/scotopic:  / ; Goldmann visual field: mid-peripheral scotoma"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305389"	"04214"	"00413414"	"00000"	"Familial, autosomal dominant"	"53y"	"first symptoms and course: congenital nystagmus, low visual acuity, minor progression, photophobia; best corrected visual acuity: 1.3 (not improving with pinhole or lens correction); visual field: central scotoma; light-/dark-adapted/ electroretinogram amplitudes // implicit time: severely reduced (cone = rod) // delayed (cone = rod); electrooculogram: normal; optical coherence tomography: central neuroretinal atrophy; anterior segment: normal"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305390"	"04214"	"00413415"	"00000"	"Familial, autosomal dominant"	"22y"	"first symptoms and course: congenital nystagmus, low visual acuity, minor progression photophobia; best corrected visual acuity: 1.08; visual field: central scotoma; light-/dark-adapted/ electroretinogram amplitudes // implicit time: severely reduced (cone > rod) // delayed (cone = rod); electrooculogram: normal; optical coherence tomography: central neuroretinal atrophy; anterior segment: normal"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305391"	"04214"	"00413416"	"00000"	"Familial, autosomal dominant"	"16y"	"first symptoms and course: low visual acuity, minor progression, photophobia; best corrected visual acuity: 0.79; visual field: central scotoma; light-/dark-adapted/ electroretinogram amplitudes // implicit time: severely reduced (cone > rod) // delayed (cone = rod) ; electrooculogram: normal; optical coherence tomography: central neuroretinal atrophy; anterior segment: normal"	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305392"	"04214"	"00413417"	"00000"	"Familial, autosomal dominant"	"62y"	"62y: no history of visual problems (other than myopia) until 5th decade of life; 56y: best corrected visual acuity right, left eye: 20/60, 20/200; reading and distance vision decreased progressively over many years; color discrimination became difficult; no photosensitivity, no peripheral field or night vision complaints; no general health issues; 62y: visual acuity 20/200 (with no significant refractive error) both eyes; fundi: maculae granular and thinned in appearance; peripheral retina, optic nerve, vessel caliber: normal; macular functional abnormalities: retinal pigment epithelium disease apparent on en face imaging and retinal structural changes on cross-sectional imaging; optical coherence tomography: loss of central retinal lamination suggesting complete degeneration of rod and cone photoreceptors; by 10deg from the fovea, outer nuclear layer thickness returned to normal, beyond the perifoveal region mild thinning of both cone and rod outer segments extending across the width of the scan; electrophysiological and perceptual results suggested mild dysfunction across the retina of both rod and cone photoreceptor-driven function, and a severe loss of macular function; family history: 6 other members with visual symptoms, suggesting an autosomal dominant mode of inheritance, although there was no male-to-male transmission"	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305393"	"04214"	"00413418"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305394"	"04214"	"00413419"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000305395"	"04214"	"00413421"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right/left eye: 0.2 / 0.2; stage: advanced; fundus: extention of the retinal atrophy in direction to the optic disc and inferior arcade vessel; fundus autofluorescence: loss of autofluorescence  at retinal atrophy area with hyper-autofluorescence  around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): absolute central scotoma; full field electroretinography: rod: decreased b-wave, combined: normal a-wave and decreased b-wave, cone and 30-Hz flickers: non- recordable"	"3y"	""	"reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305396"	"04214"	"00413422"	"00000"	"Familial, autosomal dominant"	"68y"	"best corrected visual acuity right/left eye: 0.01 / 0.02; stage: advanced; fundus: extention of the retinal atrophy over the optic disc and inferior arcade vessel; fundus autofluorescence: loss of autofluorescence  at retinal atrophy area with hyper-autofluorescence  around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): loss of central visual field; full field electroretinography: rod: non- recordable, combined: non- recordable, cone and 30-Hz flickers: non-recordable"	"6y"	""	"reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305397"	"04214"	"00413423"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right/left eye: 0.2 / 0.1; stage: middle; fundus: macular atrophy; fundus autofluorescence: hypo-autofluorescence  at retinal atrophy area with hyper-autofluorescence  around the area; optical coherence tomography, ellipsoid zone line: disrupted/ diffused, thinning of outer retinal layers: absent; visual field testing (Goldmann perimetry): absolute central scotoma; full field electroretinography: rod: decreased b-wave, combined: decreased a and b-waves, cone and 30-Hz flickers: non-recordable"	"22y"	""	"photophobia, reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305398"	"04214"	"00413424"	"00000"	"Familial, autosomal dominant"	"30y"	"best corrected visual acuity right/left eye: 0.15 / 0.1; stage: advanced; fundus: severe macular atrophy; fundus autofluorescence: loss of autofluorescence  at retinal atrophy area with hyper-autofluorescence  around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): absolute central scotoma; full field electroretinography: rod: decreased b-wave, combined: decreased a and b-waves, cone and 30-Hz flickers: non-recordable"	"19y"	""	"photophobia, reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305399"	"04214"	"00413425"	"00000"	"Familial, autosomal dominant"	"65y"	"best corrected visual acuity right/left eye: 0.01 / 0.01; stage: advanced; fundus: elliptical enlargement of retinal atrophy within the vascular arcades; fundus autofluorescence: loss of autofluorescence  at retinal atrophy area with hyper-autofluorescence  around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): not done; full field electroretinography: not done"	"18y"	""	"reduced visual acuity, central visual field loss"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305400"	"04214"	"00413426"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right/left eye: 0.7 / 0.7; stage: early; fundus: discoloration limited at the fovea; fundus autofluorescence: slight hyper-autofluorescence  limited at the fovea; optical coherence tomography, ellipsoid zone line: preserved, thinning of outer retinal layers: absent; visual field testing (Goldmann perimetry): normal in re and slightly decreased central sensitivity in le in hfa; full field electroretinography: rod: normal b-wave, combined: normal a-wave and decreased b-wave, cone and 30-Hz flickers: severely decreased"	"4y"	""	"photophobia and reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305401"	"04214"	"00413427"	"00000"	"Familial, autosomal dominant"	"34y"	"best corrected visual acuity right/left eye: 0.5 / 0.8; stage: middle; fundus: almost normal fundus appearance; fundus autofluorescence: hyper-autofluorescence  ring around the fovea; optical coherence tomography, ellipsoid zone line: disrupted/ diffused, thinning of outer retinal layers: absent; visual field testing (Goldmann perimetry): relative central scotoma; full field electroretinography: rod: normal b-wave, combined: normal a-wave and decreased b-wave, cone and 30-Hz flickers: severely decr"	"30y"	""	"reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305402"	"04214"	"00413428"	"00000"	"Familial, autosomal dominant"	"69y"	"best corrected visual acuity right/left eye: 0.09 / 0.06; stage: advanced; fundus: elliptical enlargement of retinal atrophy in direction over optic disc to nasal retina; fundus autofluorescence: loss of autofluorescence  at retinal atrophy area with hyper-autofluorescence  around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): not done; full field electroretinography: rod: decreased b-wave, combined: decreased a and b-waves, cone and 30-Hz flickers: non-recordable"	""	""	"reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305403"	"04214"	"00413429"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity right/left eye: 0.2 / 0.4; stage: middle; fundus: slight macular atrophy; fundus autofluorescence: hyper-autofluorescence  ring around the fovea; optical coherence tomography, ellipsoid zone line: disrupted/ diffused, thinning of outer retinal layers: absent; visual field testing (Goldmann perimetry): absolute central scotoma in re and relative central scotoma in le; full field electroretinography: rod: normal b-wave, combined: normal a-wave and decreased b-wave, cone and 30-Hz flickers: severely decr"	""	""	"reduced visual acuity"	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305404"	"04214"	"00413430"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305405"	"04214"	"00413431"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305406"	"04214"	"00413432"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305407"	"04214"	"00413433"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305408"	"04214"	"00413434"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000305444"	"04214"	"00413470"	"00000"	"Familial, autosomal dominant"	"82y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305445"	"04214"	"00413471"	"00000"	"Familial, autosomal dominant"	"63y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305446"	"04214"	"00413472"	"00000"	"Familial, autosomal dominant"	"61y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305447"	"04214"	"00413473"	"00000"	"Familial, autosomal dominant"	"38y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment; individual: best corrected visual acuity right, left eye: 0.1, 0.05; fundus appearance and macular optical coherence tomography consistent with the diagnosis"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305448"	"04214"	"00413474"	"00000"	"Familial, autosomal dominant"	"37y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305449"	"04214"	"00413475"	"00000"	"Familial, autosomal dominant"	"8y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305450"	"04214"	"00413476"	"00000"	"Familial, autosomal dominant"	"15y"	"whole family description: all individuals with similar features, including progressive vision loss, photophobia, nystagmus, color vision impairment, visual field impairment; individual: multifocal electroretinography: amplitude density of the left eye macular area significantly reduced; Humphrey visual field: visual fields of both eyes were defected to different degrees"	""	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000310986"	"04214"	"00419706"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000310987"	"04214"	"00419707"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000312778"	"04214"	"00421572"	"00000"	"Isolated (sporadic)"	""	"this mutation leads to a higher cGMP synthesis in photoreceptor cells than normal due to the shifted Ca2+- sensitivity, which would imbalance the cGMP-Ca2+-homeostasis; phototransduction and photoresponse recovery are working,; less severe changes in protein structure and dynamics in H19Y could further lead to aggregation phenomena in the cell"	""	""	""	"shift of the GC activation curve to higher free Ca2+-concentration but was still able to stimulate GC-E activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312779"	"04214"	"00421573"	"00000"	"Isolated (sporadic)"	""	"progressively faster decline in retinal function than patient A; regulation of GC activity and increased amino acid side chain flexibility more severely affected in comparison to the WT and variant H19Y"	""	""	""	"20-fold less efficient in activating the target GC-E"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000336248"	"00198"	"00447049"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000336258"	"00198"	"00447059"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000336347"	"00198"	"00447148"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000336356"	"00198"	"00447157"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000336581"	"00198"	"00447382"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339745"	"04249"	"00450690"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339746"	"04249"	"00450691"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339901"	"04249"	"00450846"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339902"	"04249"	"00450847"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339903"	"04249"	"00450848"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339904"	"04249"	"00450849"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339905"	"04249"	"00450850"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 247
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033168"	"00033100"	"1"	"00229"	"00229"	"2012-02-28 21:24:28"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033201"	"00033133"	"1"	"00229"	"00229"	"2012-02-28 21:24:28"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000241547"	"00240437"	"1"	"03335"	"00008"	"2019-06-20 17:48:49"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000295275"	"00294107"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306230"	"00305101"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309530"	"00308386"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000326659"	"00325448"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329122"	"00327907"	"1"	"00000"	"00006"	"2021-01-27 12:00:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329275"	"00328060"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329315"	"00328100"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329435"	"00328220"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329675"	"00328460"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000332513"	"00331294"	"1"	"00000"	"00006"	"2021-02-11 11:33:52"	""	""	"SEQ"	"DNA"	""	""
"0000333257"	"00332038"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333258"	"00332039"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333259"	"00332040"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333418"	"00332198"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000334606"	"00333381"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334644"	"00333419"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334645"	"00333420"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334810"	"00333584"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334852"	"00333626"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334853"	"00333627"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334854"	"00333628"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334855"	"00333629"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334856"	"00333630"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334862"	"00333636"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000360372"	"00359134"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000363295"	"00362066"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363296"	"00362067"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ"	"DNA"	""	""
"0000364122"	"00362894"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373923"	"00372691"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000383525"	"00382311"	"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"
"0000383526"	"00382312"	"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"
"0000388848"	"00387622"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389271"	"00388035"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG;arrayCGH;SEQ"	"DNA"	"blood"	""
"0000390450"	"00389207"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390451"	"00389208"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390972"	"00389729"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390973"	"00389730"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390974"	"00389731"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390975"	"00389732"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000391061"	"00389818"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391062"	"00389819"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000391516"	"00390275"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391517"	"00390276"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391518"	"00390277"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392250"	"00391009"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392403"	"00391161"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392404"	"00391162"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392405"	"00391163"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392406"	"00391164"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000394896"	"00393648"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394915"	"00393667"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000407538"	"00406297"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407539"	"00406298"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407540"	"00406299"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407541"	"00406300"	"1"	"00000"	"03840"	"2022-03-27 18:27:53"	""	""	"?"	"DNA"	""	""
"0000407602"	"00406360"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407603"	"00406361"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407604"	"00406362"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407605"	"00406363"	"1"	"00000"	"03840"	"2022-03-29 14:34:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414528"	"00413256"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414529"	"00413257"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414530"	"00413258"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414531"	"00413259"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414532"	"00413260"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414533"	"00413261"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414534"	"00413262"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414535"	"00413263"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414536"	"00413264"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414537"	"00413265"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414538"	"00413266"	"1"	"00000"	"03840"	"2022-07-13 11:40:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414539"	"00413267"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414540"	"00413268"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414541"	"00413269"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414542"	"00413270"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414543"	"00413271"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414544"	"00413272"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414545"	"00413273"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414546"	"00413274"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414547"	"00413275"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414548"	"00413276"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414549"	"00413277"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414550"	"00413278"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414551"	"00413279"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414552"	"00413280"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414553"	"00413281"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414554"	"00413282"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414555"	"00413283"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414556"	"00413284"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414557"	"00413285"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414558"	"00413286"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414559"	"00413287"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414560"	"00413288"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414561"	"00413289"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414562"	"00413290"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414563"	"00413291"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414564"	"00413292"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414565"	"00413293"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414566"	"00413294"	"1"	"00000"	"03840"	"2022-07-13 12:32:33"	""	""	"STR;SSCA;SEQ"	"DNA"	"blood"	""
"0000414567"	"00413295"	"1"	"00000"	"03840"	"2022-07-13 13:25:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414568"	"00413296"	"1"	"00000"	"03840"	"2022-07-13 13:25:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414569"	"00413297"	"1"	"00000"	"03840"	"2022-07-13 13:25:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414575"	"00413302"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414576"	"00413303"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414577"	"00413304"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414578"	"00413305"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414579"	"00413306"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414580"	"00413307"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414581"	"00413308"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414582"	"00413309"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414583"	"00413310"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414584"	"00413311"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414585"	"00413312"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414586"	"00413313"	"1"	"00000"	"03840"	"2022-07-14 15:57:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414587"	"00413314"	"1"	"00000"	"03840"	"2022-07-14 20:21:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414588"	"00413315"	"1"	"00000"	"03840"	"2022-07-14 20:21:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414589"	"00413316"	"1"	"00000"	"03840"	"2022-07-14 20:21:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414590"	"00413317"	"1"	"00000"	"03840"	"2022-07-14 20:21:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414591"	"00413318"	"1"	"00000"	"03840"	"2022-07-14 20:21:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414592"	"00413319"	"1"	"00000"	"03840"	"2022-07-14 20:21:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414600"	"00413324"	"1"	"00000"	"03840"	"2022-07-15 11:57:28"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000414601"	"00413325"	"1"	"00000"	"03840"	"2022-07-15 11:57:28"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000414602"	"00413326"	"1"	"00000"	"03840"	"2022-07-15 11:57:28"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000414603"	"00413327"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414604"	"00413328"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414605"	"00413329"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414606"	"00413330"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414607"	"00413331"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414608"	"00413332"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414609"	"00413333"	"1"	"00000"	"03840"	"2022-07-15 13:12:36"	""	""	"SEQ"	"DNA"	""	""
"0000414610"	"00413334"	"1"	"00000"	"03840"	"2022-07-15 13:49:51"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000414611"	"00413335"	"1"	"00000"	"03840"	"2022-07-15 13:49:51"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000414612"	"00413336"	"1"	"00000"	"03840"	"2022-07-15 13:49:51"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000414613"	"00413337"	"1"	"00000"	"03840"	"2022-07-15 13:49:51"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000414614"	"00413338"	"1"	"00000"	"03840"	"2022-07-15 13:49:51"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000414615"	"00413339"	"1"	"00000"	"03840"	"2022-07-15 13:49:51"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414616"	"00413340"	"1"	"00000"	"03840"	"2022-07-15 14:12:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414617"	"00413341"	"1"	"00000"	"03840"	"2022-07-15 14:12:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414618"	"00413342"	"1"	"00000"	"03840"	"2022-07-15 14:12:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414621"	"00413344"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414622"	"00413345"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414623"	"00413346"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414624"	"00413347"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414625"	"00413348"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414626"	"00413349"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414627"	"00413350"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414628"	"00413351"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414629"	"00413352"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414630"	"00413353"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414631"	"00413354"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414632"	"00413355"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414633"	"00413356"	"1"	"00000"	"03840"	"2022-07-15 14:38:59"	""	""	"SEQ"	"DNA"	""	""
"0000414634"	"00413357"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414635"	"00413358"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414636"	"00413359"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414637"	"00413360"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414638"	"00413361"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414639"	"00413362"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414640"	"00413363"	"1"	"00000"	"03840"	"2022-07-15 15:21:58"	""	""	"STR;HD;SEQ"	"DNA"	"blood"	""
"0000414641"	"00413364"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414642"	"00413365"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414643"	"00413366"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414644"	"00413367"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414645"	"00413368"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414646"	"00413369"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414647"	"00413370"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414648"	"00413371"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414649"	"00413372"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414650"	"00413373"	"1"	"00000"	"03840"	"2022-07-15 16:03:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414651"	"00413374"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414652"	"00413375"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414653"	"00413376"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414654"	"00413377"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414655"	"00413378"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414656"	"00413379"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414657"	"00413380"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414658"	"00413381"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414659"	"00413382"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414660"	"00413383"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414661"	"00413384"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414662"	"00413385"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000414663"	"00413386"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414664"	"00413387"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414665"	"00413388"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414666"	"00413389"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole-exome sequencing"
"0000414667"	"00413390"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414668"	"00413391"	"1"	"00000"	"03840"	"2022-07-16 20:20:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414672"	"00413395"	"1"	"00000"	"03840"	"2022-07-17 12:23:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414673"	"00413396"	"1"	"00000"	"03840"	"2022-07-17 12:23:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414674"	"00413397"	"1"	"00000"	"03840"	"2022-07-17 12:23:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414675"	"00413398"	"1"	"00000"	"03840"	"2022-07-17 12:23:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414676"	"00413399"	"1"	"00000"	"03840"	"2022-07-17 12:23:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414677"	"00413400"	"1"	"00000"	"03840"	"2022-07-17 12:23:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414679"	"00413402"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414680"	"00413403"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414681"	"00413404"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414682"	"00413405"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414683"	"00413406"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414684"	"00413407"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414685"	"00413408"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414686"	"00413409"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414687"	"00413410"	"1"	"00000"	"03840"	"2022-07-17 21:14:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414691"	"00413414"	"1"	"00000"	"03840"	"2022-07-18 10:01:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000414692"	"00413415"	"1"	"00000"	"03840"	"2022-07-18 10:01:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414693"	"00413416"	"1"	"00000"	"03840"	"2022-07-18 10:01:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414694"	"00413417"	"1"	"00000"	"03840"	"2022-07-18 10:06:09"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000414695"	"00413418"	"1"	"00000"	"03840"	"2022-07-18 10:06:09"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414696"	"00413419"	"1"	"00000"	"03840"	"2022-07-18 10:06:09"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414698"	"00413421"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000414699"	"00413422"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414700"	"00413423"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000414701"	"00413424"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414702"	"00413425"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414703"	"00413426"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414704"	"00413427"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000414705"	"00413428"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414706"	"00413429"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414707"	"00413430"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414708"	"00413431"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414709"	"00413432"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414710"	"00413433"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414711"	"00413434"	"1"	"00000"	"03840"	"2022-07-18 13:24:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000414749"	"00413470"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414750"	"00413471"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414751"	"00413472"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414752"	"00413473"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414753"	"00413474"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414754"	"00413475"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000414755"	"00413476"	"1"	"00000"	"03840"	"2022-07-19 11:40:20"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000421011"	"00419706"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421012"	"00419707"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000422883"	"00421572"	"1"	"00000"	"03840"	"2022-11-07 15:19:48"	""	""	"SEQ-NG"	"DNA"	""	"panel targeting 108 genes associated with inherited retinal degeneration"
"0000422884"	"00421573"	"1"	"00000"	"03840"	"2022-11-07 15:19:48"	""	""	"SEQ-NG"	"DNA"	""	"panel targeting 108 genes associated with inherited retinal degeneration"
"0000448626"	"00447049"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448636"	"00447059"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448725"	"00447148"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448734"	"00447157"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448959"	"00447382"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452288"	"00450690"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452289"	"00450691"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452444"	"00450846"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452445"	"00450847"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452446"	"00450848"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452447"	"00450849"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452448"	"00450850"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 226
"{{screeningid}}"	"{{geneid}}"
"0000033168"	"GUCA1A"
"0000033201"	"GUCA1A"
"0000241547"	"GUCA1A"
"0000309530"	"GUCA1A"
"0000326659"	"GUCA1A"
"0000329122"	"GUCA1A"
"0000329275"	"GUCA1A"
"0000329315"	"GUCA1A"
"0000329435"	"GUCA1A"
"0000329675"	"GUCA1A"
"0000332513"	"GUCA1A"
"0000333257"	"GUCA1A"
"0000333258"	"GUCA1A"
"0000333259"	"GUCA1A"
"0000334606"	"GUCA1A"
"0000334810"	"GUCA1A"
"0000334852"	"GUCA1A"
"0000334853"	"GUCA1A"
"0000334854"	"GUCA1A"
"0000334855"	"GUCA1A"
"0000334856"	"GUCA1A"
"0000334862"	"GUCA1A"
"0000363295"	"GUCA1A"
"0000363296"	"GUCA1A"
"0000364122"	"GUCA1A"
"0000383525"	"GUCA1A"
"0000383526"	"GUCA1A"
"0000388848"	"GUCA1A"
"0000389271"	"GUCA1A"
"0000390450"	"GUCA1A"
"0000390451"	"GUCA1A"
"0000390972"	"GUCA1A"
"0000390973"	"GUCA1A"
"0000390974"	"GUCA1A"
"0000390975"	"GUCA1A"
"0000391061"	"GUCA1A"
"0000391062"	"GUCA1A"
"0000391516"	"GUCA1A"
"0000391517"	"GUCA1A"
"0000391518"	"GUCA1A"
"0000392250"	"GUCA1A"
"0000392403"	"GUCA1A"
"0000392404"	"GUCA1A"
"0000392405"	"GUCA1A"
"0000392406"	"GUCA1A"
"0000394896"	"GUCA1A"
"0000394915"	"GUCA1A"
"0000407538"	"GUCA1A"
"0000407539"	"GUCA1A"
"0000407540"	"GUCA1A"
"0000407541"	"GUCA1A"
"0000407602"	"GUCA1A"
"0000407603"	"GUCA1A"
"0000407604"	"GUCA1A"
"0000407605"	"GUCA1A"
"0000414528"	"GUCA1A"
"0000414529"	"GUCA1A"
"0000414530"	"GUCA1A"
"0000414531"	"GUCA1A"
"0000414532"	"GUCA1A"
"0000414533"	"GUCA1A"
"0000414534"	"GUCA1A"
"0000414535"	"GUCA1A"
"0000414536"	"GUCA1A"
"0000414537"	"GUCA1A"
"0000414538"	"GUCA1A"
"0000414539"	"GUCA1A"
"0000414540"	"GUCA1A"
"0000414541"	"GUCA1A"
"0000414542"	"GUCA1A"
"0000414543"	"GUCA1A"
"0000414544"	"GUCA1A"
"0000414545"	"GUCA1A"
"0000414546"	"GUCA1A"
"0000414547"	"GUCA1A"
"0000414548"	"GUCA1A"
"0000414549"	"GUCA1A"
"0000414550"	"GUCA1A"
"0000414551"	"GUCA1A"
"0000414552"	"GUCA1A"
"0000414553"	"GUCA1A"
"0000414554"	"GUCA1A"
"0000414555"	"GUCA1A"
"0000414556"	"GUCA1A"
"0000414557"	"GUCA1A"
"0000414558"	"GUCA1A"
"0000414559"	"GUCA1A"
"0000414560"	"GUCA1A"
"0000414561"	"GUCA1A"
"0000414562"	"GUCA1A"
"0000414563"	"GUCA1A"
"0000414564"	"GUCA1A"
"0000414565"	"GUCA1A"
"0000414566"	"GUCA1A"
"0000414567"	"GUCA1A"
"0000414568"	"GUCA1A"
"0000414569"	"GUCA1A"
"0000414575"	"GUCA1A"
"0000414576"	"GUCA1A"
"0000414577"	"GUCA1A"
"0000414578"	"GUCA1A"
"0000414579"	"GUCA1A"
"0000414580"	"GUCA1A"
"0000414581"	"GUCA1A"
"0000414582"	"GUCA1A"
"0000414583"	"GUCA1A"
"0000414584"	"GUCA1A"
"0000414585"	"GUCA1A"
"0000414586"	"GUCA1A"
"0000414587"	"GUCA1A"
"0000414588"	"GUCA1A"
"0000414589"	"GUCA1A"
"0000414590"	"GUCA1A"
"0000414591"	"GUCA1A"
"0000414592"	"GUCA1A"
"0000414600"	"GUCA1A"
"0000414601"	"GUCA1A"
"0000414602"	"GUCA1A"
"0000414603"	"GUCA1A"
"0000414604"	"GUCA1A"
"0000414605"	"GUCA1A"
"0000414606"	"GUCA1A"
"0000414607"	"GUCA1A"
"0000414608"	"GUCA1A"
"0000414609"	"GUCA1A"
"0000414610"	"GUCA1A"
"0000414611"	"GUCA1A"
"0000414612"	"GUCA1A"
"0000414613"	"GUCA1A"
"0000414614"	"GUCA1A"
"0000414615"	"GUCA1A"
"0000414616"	"GUCA1A"
"0000414617"	"GUCA1A"
"0000414618"	"GUCA1A"
"0000414621"	"GUCA1A"
"0000414622"	"GUCA1A"
"0000414623"	"GUCA1A"
"0000414624"	"GUCA1A"
"0000414625"	"GUCA1A"
"0000414626"	"GUCA1A"
"0000414627"	"GUCA1A"
"0000414628"	"GUCA1A"
"0000414629"	"GUCA1A"
"0000414630"	"GUCA1A"
"0000414631"	"GUCA1A"
"0000414632"	"GUCA1A"
"0000414633"	"GUCA1A"
"0000414634"	"GUCA1A"
"0000414635"	"GUCA1A"
"0000414636"	"GUCA1A"
"0000414637"	"GUCA1A"
"0000414638"	"GUCA1A"
"0000414639"	"GUCA1A"
"0000414640"	"GUCA1A"
"0000414641"	"GUCA1A"
"0000414642"	"GUCA1A"
"0000414643"	"GUCA1A"
"0000414644"	"GUCA1A"
"0000414645"	"GUCA1A"
"0000414646"	"GUCA1A"
"0000414647"	"GUCA1A"
"0000414648"	"GUCA1A"
"0000414649"	"GUCA1A"
"0000414650"	"GUCA1A"
"0000414651"	"GUCA1A"
"0000414652"	"GUCA1A"
"0000414653"	"GUCA1A"
"0000414654"	"GUCA1A"
"0000414655"	"GUCA1A"
"0000414656"	"GUCA1A"
"0000414657"	"GUCA1A"
"0000414658"	"GUCA1A"
"0000414659"	"GUCA1A"
"0000414660"	"GUCA1A"
"0000414661"	"GUCA1A"
"0000414662"	"GUCA1A"
"0000414663"	"GUCA1A"
"0000414664"	"GUCA1A"
"0000414665"	"GUCA1A"
"0000414666"	"GUCA1A"
"0000414667"	"GUCA1A"
"0000414668"	"GUCA1A"
"0000414672"	"GUCA1A"
"0000414673"	"GUCA1A"
"0000414674"	"GUCA1A"
"0000414675"	"GUCA1A"
"0000414676"	"GUCA1A"
"0000414677"	"GUCA1A"
"0000414679"	"GUCA1A"
"0000414680"	"GUCA1A"
"0000414681"	"GUCA1A"
"0000414682"	"GUCA1A"
"0000414683"	"GUCA1A"
"0000414684"	"GUCA1A"
"0000414685"	"GUCA1A"
"0000414686"	"GUCA1A"
"0000414687"	"GUCA1A"
"0000414691"	"GUCA1A"
"0000414692"	"GUCA1A"
"0000414693"	"GUCA1A"
"0000414694"	"GUCA1A"
"0000414695"	"GUCA1A"
"0000414696"	"GUCA1A"
"0000414698"	"GUCA1A"
"0000414699"	"GUCA1A"
"0000414700"	"GUCA1A"
"0000414701"	"GUCA1A"
"0000414702"	"GUCA1A"
"0000414703"	"GUCA1A"
"0000414704"	"GUCA1A"
"0000414705"	"GUCA1A"
"0000414706"	"GUCA1A"
"0000414707"	"GUCA1A"
"0000414708"	"GUCA1A"
"0000414709"	"GUCA1A"
"0000414710"	"GUCA1A"
"0000414711"	"GUCA1A"
"0000414749"	"GUCA1A"
"0000414750"	"GUCA1A"
"0000414751"	"GUCA1A"
"0000414752"	"GUCA1A"
"0000414753"	"GUCA1A"
"0000414754"	"GUCA1A"
"0000414755"	"GUCA1A"
"0000422883"	"GUCA1A"
"0000422884"	"GUCA1A"


## 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 = 271
"{{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}}"
"0000059890"	"1"	"50"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00229"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.42173762C>T"	""	"VUS"	""
"0000059891"	"1"	"50"	"6"	"42147133"	"42147133"	"subst"	"0"	"00229"	"GUCA1A_000002"	"g.42147133G>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.42179395G>A"	""	"VUS"	""
"0000277517"	"0"	"10"	"6"	"42147151"	"42147151"	"subst"	"0.000519751"	"02330"	"GUCA1A_000009"	"g.42147151C>A"	""	""	""	"LOC118142757(NM_000409.5):c.*10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42179413C>A"	""	"benign"	""
"0000277518"	"0"	"30"	"6"	"42141517"	"42141517"	"subst"	"0"	"02330"	"GUCA1A_000003"	"g.42141517G>T"	""	""	""	"LOC118142757(NM_000409.5):c.166G>T (p.V56L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42173779G>T"	""	"likely benign"	""
"0000277519"	"0"	"30"	"6"	"42146002"	"42146002"	"subst"	"0.00103051"	"02330"	"GUCA1A_000004"	"g.42146002C>T"	""	""	""	"GUCA1A(NM_001384910.1):c.202-16C>T, LOC118142757(NM_000409.5):c.202-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42178264C>T"	""	"likely benign"	""
"0000277520"	"0"	"10"	"6"	"42146032"	"42146032"	"subst"	"4.06382E-6"	"02330"	"GUCA1A_000005"	"g.42146032T>C"	""	""	""	"LOC118142757(NM_000409.5):c.216T>C (p.D72=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42178294T>C"	""	"benign"	""
"0000277521"	"0"	"10"	"6"	"42146963"	"42146963"	"subst"	"0.00220733"	"02330"	"GUCA1A_000006"	"g.42146963C>A"	""	""	""	"LOC118142757(NM_001319061.2):c.446-18C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42179225C>A"	""	"benign"	""
"0000277522"	"0"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"02330"	"GUCA1A_000007"	"g.42147061C>T"	""	""	""	"LOC118142757(NM_000409.5):c.526C>T (p.L176F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000288886"	"0"	"30"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"01943"	"GUCA1A_000001"	"g.42141500C>T"	""	""	""	"GUCA1A(NM_000409.4):c.149C>T (p.P50L), GUCA1A(NM_001384910.1):c.149C>T (p.P50L), LOC118142757(NM_001319061.2):c.149C>T (p.P50L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42173762C>T"	""	"likely benign"	""
"0000288887"	"0"	"30"	"6"	"42147102"	"42147102"	"subst"	"0.00330007"	"01943"	"GUCA1A_000008"	"g.42147102C>T"	""	""	""	"GUCA1A(NM_000409.4):c.567C>T (p.D189=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42179364C>T"	""	"likely benign"	""
"0000288888"	"0"	"30"	"6"	"42152586"	"42152586"	"subst"	"8.93568E-5"	"01943"	"GUCA1B_000004"	"g.42152586G>A"	""	""	""	"GUCA1B(NM_002098.5):c.570C>T (p.L190=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42184848G>A"	""	"likely benign"	""
"0000346794"	"0"	"50"	"6"	"42146028"	"42146028"	"subst"	"1.626E-5"	"02327"	"GUCA1A_000010"	"g.42146028T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.42178290T>C"	""	"VUS"	""
"0000487557"	"11"	"90"	"6"	"42146144"	"42146153"	"del"	"0"	"03335"	"GUCA1A_000011"	"g.42146144_42146153del"	""	""	""	""	"dominant, reduced risk"	"Germline"	""	""	"0"	""	""	"g.42178406_42178415del"	""	"pathogenic (!)"	""
"0000528841"	"0"	"30"	"6"	"42123333"	"42123333"	"subst"	"0"	"01943"	"GUCA1A_000012"	"g.42123333T>C"	""	""	""	"GUCA1A(NM_001319061.1):c.-829+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.42155595T>C"	""	"likely benign"	""
"0000528842"	"0"	"10"	"6"	"42141360"	"42141360"	"subst"	"0.000771843"	"02330"	"GUCA1A_000013"	"g.42141360C>T"	""	""	""	"LOC118142757(NM_000409.5):c.9C>T (p.N3=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.42173622C>T"	""	"benign"	""
"0000528843"	"0"	"30"	"6"	"42141393"	"42141393"	"subst"	"0"	"01943"	"GUCA1A_000014"	"g.42141393C>T"	""	""	""	"GUCA1A(NM_001319061.1):c.42C>T (p.S14=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.42173655C>T"	""	"likely benign"	""
"0000528844"	"0"	"50"	"6"	"42141415"	"42141415"	"subst"	"4.06091E-6"	"01943"	"GUCA1A_000015"	"g.42141415T>C"	""	""	""	"GUCA1A(NM_001319061.1):c.64T>C (p.Y22H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.42173677T>C"	""	"VUS"	""
"0000528845"	"0"	"50"	"6"	"42141475"	"42141475"	"subst"	"8.12117E-5"	"01943"	"GUCA1A_000016"	"g.42141475T>A"	""	""	""	"GUCA1A(NM_001319061.1):c.124T>A (p.F42I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.42173737T>A"	""	"VUS"	""
"0000528846"	"0"	"90"	"6"	"42146147"	"42146147"	"subst"	"0"	"02330"	"GUCA1A_000017"	"g.42146147G>A"	""	""	""	"LOC118142757(NM_000409.5):c.331G>A (p.E111K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.42178409G>A"	""	"pathogenic"	""
"0000651964"	"1"	"30"	"6"	"42130650"	"42130650"	"subst"	"0.0284362"	"03575"	"GUCA1A_000018"	"g.42130650C>T"	"58/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"58 heterozygous; {DB:CLININrs58894089}"	"Germline"	""	"rs58894089"	"0"	""	""	"g.42162912C>T"	""	"likely benign"	""
"0000669918"	"3"	"30"	"6"	"42130650"	"42130650"	"subst"	"0.0284362"	"03575"	"GUCA1A_000018"	"g.42130650C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs58894089}"	"Germline"	""	"rs58894089"	"0"	""	""	"g.42162912C>T"	""	"likely benign"	""
"0000684395"	"1"	"70"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00004"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs104893968"	"0"	""	""	"g.42173762C>T"	""	"likely pathogenic (dominant)"	""
"0000689737"	"0"	"30"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"02330"	"GUCA1A_000001"	"g.42141500C>T"	""	""	""	"GUCA1A(NM_000409.4):c.149C>T (p.P50L), GUCA1A(NM_001384910.1):c.149C>T (p.P50L), LOC118142757(NM_001319061.2):c.149C>T (p.P50L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000710251"	"1"	"90"	"6"	"42146144"	"42146153"	"del"	"0"	"00006"	"GUCA1A_000011"	"g.42146144_42146153del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"328_337delGATGAGCTGC"	"ACMG PVS1, PM2, PP4"	"Germline"	""	""	"0"	""	""	"g.42178406_42178415del"	""	"pathogenic"	"ACMG"
"0000713245"	"0"	"90"	"6"	"42146148"	"42146148"	"subst"	"0"	"00000"	"GUCA1A_000020"	"g.42146148A>C"	""	"{PMID:Carss 2017:28041643}"	""	"6:42146148A>C ENST00000394237.1:c.332A>C (Glu111Ala)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000713398"	"0"	"90"	"6"	"42146148"	"42146148"	"subst"	"0"	"00000"	"GUCA1A_000020"	"g.42146148A>C"	""	"{PMID:Carss 2017:28041643}"	""	"6:42146148A>C ENST00000394237.1:c.332A>C (Glu111Ala)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000713438"	"0"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Carss 2017:28041643}"	""	"6:42146112A>G ENST00000394237.1:c.296A>G (Tyr99Cys)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000713558"	"0"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Carss 2017:28041643}"	""	"6:42146112A>G ENST00000394237.1:c.296A>G (Tyr99Cys)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000714032"	"0"	"70"	"6"	"42146612"	"42146612"	"subst"	"0.000239664"	"00000"	"GUCA1A_000021"	"g.42146612A>G"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178874A>G"	""	"likely pathogenic"	""
"0000729791"	"0"	"90"	"6"	"42146128"	"42146128"	"subst"	"0"	"00000"	"GUCA1A_000022"	"g.42146128C>A"	""	"{PMID:Wawrocka 2018:29769798}"	""	"819_826del8"	""	"Germline"	""	""	"0"	""	""	"g.42178390C>A"	""	"pathogenic (recessive)"	""
"0000730681"	"1"	"90"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179248C>T"	""	"pathogenic (dominant)"	""
"0000730682"	"1"	"90"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179323C>T"	""	"pathogenic (dominant)"	""
"0000730683"	"1"	"90"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179248C>T"	""	"pathogenic (dominant)"	""
"0000730993"	"1"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"De novo"	""	"rs104893967"	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000732538"	"1"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000732577"	"0"	"50"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs104893968"	"0"	""	""	"g.42173762C>T"	""	"VUS"	""
"0000732600"	"0"	"50"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs104893968"	"0"	""	""	"g.42173762C>T"	""	"VUS"	""
"0000732817"	"0"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000732859"	"0"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000732860"	"0"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000732861"	"0"	"70"	"6"	"42146122"	"42146122"	"subst"	"0"	"00000"	"GUCA1A_000025"	"g.42146122T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178384T>A"	""	"likely pathogenic"	""
"0000732862"	"0"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic"	""
"0000732863"	"0"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Stone 2017:28559085}"	""	"428delTinsACAC"	""	"Germline"	""	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic"	""
"0000732869"	"0"	"70"	"6"	"42141544"	"42141544"	"subst"	"0"	"00000"	"GUCA1A_000024"	"g.42141544T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42173806T>G"	""	"likely pathogenic"	""
"0000760264"	"0"	"70"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42173762C>T"	""	"likely pathogenic"	""
"0000763872"	"1"	"70"	"6"	"42146120"	"42146120"	"subst"	"0"	"00006"	"GUCA1A_000028"	"g.42146120G>C"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178382G>C"	""	"likely pathogenic (dominant)"	""
"0000763873"	"1"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00006"	"GUCA1A_000029"	"g.42146999A>C"	""	"{PMID:Huang 2013:23428504}, {PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179261A>C"	""	"likely pathogenic (dominant)"	""
"0000764884"	"1"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000784623"	"0"	"50"	"6"	"42146547"	"42146547"	"subst"	"0"	"00000"	"GUCA1A_000030"	"g.42146547G>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"0/1266 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.42178809G>A"	""	"VUS"	""
"0000797673"	"0"	"90"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCA1A c.149C>T, p.(Pro50Leu)"	""	"Germline"	"?"	""	"0"	""	""	"g.42173762C>T"	""	"pathogenic"	"ACMG"
"0000797674"	"0"	"90"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GUCA1A c.149C>T, p.(Pro50Leu), ABCA4 c.5882G>A(,), 3259G>A, p.(Gly1961Glu,Glu1087Lys)"	""	"Germline"	"?"	""	"0"	""	""	"g.42173762C>T"	""	"pathogenic"	"ACMG"
"0000802593"	"0"	"30"	"6"	"42146178"	"42146178"	"subst"	"0"	"02330"	"GUCA1A_000031"	"g.42146178C>T"	""	""	""	"LOC118142757(NM_001319061.2):c.351+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000817624"	"1"	"70"	"6"	"42146617"	"42146618"	"ins"	"0"	"00000"	"GUCA1A_000033"	"g.42146617_42146618insACA"	""	"{PMID:Zanolli 2020:32141364}"	""	"GUCA1A c.429_430insACA; c.428T>C"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42178879_42178880insACA"	""	"likely pathogenic"	""
"0000817625"	"2"	"70"	"6"	"42146616"	"42146616"	"subst"	"4.06256E-6"	"00000"	"GUCA1A_000032"	"g.42146616T>C"	""	"{PMID:Zanolli 2020:32141364}"	""	"GUCA1A c.429_430insACA; c.428T>C"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42178878T>C"	""	"likely pathogenic"	""
"0000818190"	"0"	"90"	"6"	"42146157"	"42146157"	"subst"	"3.25137E-5"	"00000"	"GUCA1A_000034"	"g.42146157C>T"	""	"{PMID:Wang 2016:27788217}"	""	"c.341C>T(p.T114I)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000819795"	"1"	"70"	"6"	"42146547"	"42146547"	"subst"	"0"	"00000"	"GUCA1A_000036"	"g.42146547G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.359G>T/p.R120L"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42178809G>T"	""	"likely pathogenic"	""
"0000819796"	"1"	"70"	"6"	"42146547"	"42146547"	"subst"	"0"	"00000"	"GUCA1A_000036"	"g.42146547G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.359G>T/p.R120L"	"possibly solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42178809G>T"	""	"likely pathogenic"	""
"0000820317"	"1"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.526C>T/p.L176F"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000820318"	"1"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.526C>T/p.L176F"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000820319"	"1"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.526C>T/p.L176F"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000820320"	"1"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.526C>T/p.L176F"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000820406"	"1"	"70"	"6"	"42146631"	"42146631"	"subst"	"0"	"00000"	"GUCA1A_000037"	"g.42146631A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.443A>C/p.D148A"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178893A>C"	""	"likely pathogenic"	""
"0000820407"	"1"	"70"	"6"	"42146631"	"42146631"	"subst"	"0"	"00000"	"GUCA1A_000037"	"g.42146631A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GUCA1A, variant 1: c.443A>C/p.D148A"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178893A>C"	""	"likely pathogenic"	""
"0000821265"	"0"	"70"	"6"	"42146148"	"42146148"	"subst"	"0"	"00000"	"GUCA1A_000020"	"g.42146148A>C"	""	"{PMID:Turro 2020:32581362}"	""	"GUCA1A c.332A>C, p.Glu111Ala"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.42178410A>C"	""	"likely pathogenic"	""
"0000821266"	"0"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Turro 2020:32581362}"	""	"GUCA1A c.296A>G, p.Tyr99Cys"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic"	""
"0000821267"	"0"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Turro 2020:32581362}"	""	"GUCA1A c.296A>G, p.Tyr99Cys"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic"	""
"0000822495"	"1"	"70"	"6"	"42146149"	"42146149"	"subst"	"0"	"00000"	"GUCA1A_000035"	"g.42146149G>C"	""	"{PMID:Maggi_2021:33546218}"	""	"c.333G>C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822694"	"0"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCA1A c.526C>T, p.Leu176Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000822695"	"0"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCA1A c.451C>T, p.Leu151Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000822696"	"0"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCA1A c.526C>T, p.Leu176Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000822697"	"0"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"GUCA1A c.526C>T, p.Leu176Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic"	""
"0000825977"	"0"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.296A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826005"	"0"	"70"	"6"	"42147010"	"42147010"	"subst"	"0"	"00000"	"GUCA1A_000038"	"g.42147010G>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.475G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000844208"	"21"	"70"	"17"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCA1A: c.451C.T/p.L151F"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000844209"	"21"	"70"	"17"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCA1A: c.451C.T/p.L151F"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000844210"	"21"	"70"	"17"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCA1A: c.451C.T/p.L151F"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000844211"	"21"	"70"	"17"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Zobor 2014:24875811}"	""	"GUCA1A: c.451C.T/p.L151F"	"heteozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic"	""
"0000844279"	"0"	"70"	"6"	"42146081"	"42146081"	"subst"	"0"	"00000"	"GUCA1A_000039"	"g.42146081G>A"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCA1A c.265G>A, p.Glu89Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42178343G>A"	""	"likely pathogenic (dominant)"	""
"0000844280"	"0"	"70"	"6"	"42146116"	"42146116"	"subst"	"0"	"00000"	"GUCA1A_000040"	"g.42146116T>A"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCA1A c.300T>A, Asp100Gln"	"error in annotation, should be p.(Asp100Glu); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178378T>A"	""	"likely pathogenic (dominant)"	""
"0000844281"	"0"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCA1A c.451C>T, p.Leu151Phe"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000844282"	"0"	"70"	"6"	"42147011"	"42147011"	"subst"	"0"	"00000"	"GUCA1A_000041"	"g.42147011G>T"	""	"{PMID:Kohl 2012:22183351}"	""	"GUCA1A c.476G>T, p.Gly159Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179273G>T"	""	"likely pathogenic (dominant)"	""
"0000860351"	"0"	"50"	"6"	"42141503"	"42141503"	"subst"	"0.000182734"	"01943"	"GUCA1A_000042"	"g.42141503C>T"	""	""	""	"GUCA1A(NM_001319061.1):c.152C>T (p.S51L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000872218"	"0"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872219"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872220"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872221"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872222"	"21"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872223"	"21"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872224"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872225"	"10"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A Y99C"	"heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872226"	"0"	"70"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A P50L"	"heterozygous; said to be exon 1, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42173762C>T"	""	"likely pathogenic (dominant)"	""
"0000872227"	"20"	"70"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A P50L"	"heterozygous; said to be exon 1, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42173762C>T"	""	"likely pathogenic (dominant)"	""
"0000872228"	"21"	"70"	"6"	"42141500"	"42141500"	"subst"	"0.00117762"	"00000"	"GUCA1A_000001"	"g.42141500C>T"	""	"{PMID:Downes 2001:11146732}"	""	"GUCA1A P50L"	"heterozygous; in Downes 2001 likely pathogenic, verified in Mahroo 2019 when this mutation was deemed likely benign due to RPGR mutation finding better matching the phenotype. In Downes et al. said to be exon 1, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases"	"Germline"	"yes"	""	"0"	""	""	"g.42173762C>T"	""	"likely pathogenic (dominant)"	""
"0000872229"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872230"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872231"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872232"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872233"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872234"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872235"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872236"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872237"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872238"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872239"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872240"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872241"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872242"	"10"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872243"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872244"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872245"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872246"	"20"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872247"	"11"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872248"	"11"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872249"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872250"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872251"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872252"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872253"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872254"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872255"	"11"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872256"	"21"	"70"	"6"	"42146999"	"42146999"	"subst"	"0"	"00000"	"GUCA1A_000027"	"g.42146999A>G"	""	"{PMID:Wilkie_2001:11484154}"	""	"GUCA1A A464G, E155G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179261A>G"	""	"likely pathogenic (dominant)"	""
"0000872257"	"10"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Nishiguchi_2004:15505030}"	""	"GUCA1A c.428delTinsACAC, I143NT"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872258"	"11"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Nishiguchi_2004:15505030}"	""	"GUCA1A c.428delTinsACAC, I143NT"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872259"	"0"	"70"	"6"	"42146157"	"42146157"	"subst"	"3.25137E-5"	"00000"	"GUCA1A_000034"	"g.42146157C>T"	""	"{PMID:Nishiguchi_2004:15505030}"	""	"GUCA1A c.341C>T, T114I"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42178419C>T"	""	"likely pathogenic (dominant)"	""
"0000872273"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872274"	"20"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872275"	"10"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872276"	"20"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872277"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872278"	"10"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872279"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872280"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872281"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872282"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872283"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872284"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Sokal 2005:15790869}"	""	"GUCA1A L151F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872285"	"20"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Michaelides 2005:15953638}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000872286"	"20"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Michaelides 2005:15953638}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000872287"	"11"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Michaelides 2005:15953638}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000872288"	"11"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Michaelides 2005:15953638}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000872289"	"21"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Michaelides 2005:15953638}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000872290"	"21"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Michaelides 2005:15953638}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic (dominant)"	""
"0000872295"	"20"	"70"	"6"	"42146128"	"42146128"	"subst"	"0"	"00000"	"GUCA1A_000022"	"g.42146128C>A"	""	"{PMID:Jiang 2008:18706439}"	""	"GUCA1A C312A, N104K"	"obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178390C>A"	""	"likely pathogenic (dominant)"	""
"0000872296"	"20"	"70"	"6"	"42146128"	"42146128"	"subst"	"0"	"00000"	"GUCA1A_000022"	"g.42146128C>A"	""	"{PMID:Jiang 2008:18706439}"	""	"GUCA1A C312A, N104K"	"obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178390C>A"	""	"likely pathogenic (dominant)"	""
"0000872297"	"20"	"70"	"6"	"42146128"	"42146128"	"subst"	"0"	"00000"	"GUCA1A_000022"	"g.42146128C>A"	""	"{PMID:Jiang 2008:18706439}"	""	"GUCA1A C312A, N104K"	"obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178390C>A"	""	"likely pathogenic (dominant)"	""
"0000872298"	"20"	"70"	"6"	"42146081"	"42146081"	"subst"	"0"	"00000"	"GUCA1A_000039"	"g.42146081G>A"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.265G>A (p.Glu89Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178343G>A"	""	"likely pathogenic (dominant)"	""
"0000872299"	"20"	"70"	"6"	"42146116"	"42146116"	"subst"	"0"	"00000"	"GUCA1A_000040"	"g.42146116T>A"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.300T>A (p.Asp100Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178378T>A"	""	"likely pathogenic (dominant)"	""
"0000872300"	"20"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.451C>T (p.Leu151Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872301"	"20"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.451C>T (p.Leu151Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872302"	"20"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.451C>T (p.Leu151Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872303"	"20"	"70"	"6"	"42147011"	"42147011"	"subst"	"0"	"00000"	"GUCA1A_000041"	"g.42147011G>T"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.476G>T (p.Gly159Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179273G>T"	""	"likely pathogenic (dominant)"	""
"0000872304"	"20"	"70"	"6"	"42147011"	"42147011"	"subst"	"0"	"00000"	"GUCA1A_000041"	"g.42147011G>T"	""	"{PMID:Kitiratschky 2009:19459154}"	""	"GUCA1A c.476G>T (p.Gly159Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179273G>T"	""	"likely pathogenic (dominant)"	""
"0000872305"	"0"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"00000"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Kamenarova_2013:24024198}"	""	"GUCA1A c.250C>T, p.L84F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic (dominant)"	""
"0000872306"	"11"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"00000"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Kamenarova_2013:24024198}"	""	"GUCA1A c.250C>T, p.L84F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic (dominant)"	""
"0000872307"	"11"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"00000"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Kamenarova_2013:24024198}"	""	"GUCA1A c.250C>T, p.L84F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic (dominant)"	""
"0000872308"	"21"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"00000"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Kamenarova_2013:24024198}"	""	"GUCA1A c.250C>T, p.L84F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic (dominant)"	""
"0000872309"	"21"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"00000"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Kamenarova_2013:24024198}"	""	"GUCA1A c.250C>T, p.L84F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic (dominant)"	""
"0000872310"	"10"	"70"	"6"	"42146136"	"42146136"	"subst"	"4.06167E-6"	"00000"	"GUCA1A_000046"	"g.42146136T>C"	""	"{PMID:Kamenarova_2013:24024198}"	""	"GUCA1A c.320T>C, p.I107T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178398T>C"	""	"likely pathogenic (dominant)"	""
"0000872311"	"0"	"70"	"6"	"42146115"	"42146115"	"subst"	"0"	"00000"	"GUCA1A_000044"	"g.42146115A>G"	""	"{PMID:Nong 2014:24352742}"	""	"GUCA1A c.299 A>G p.Asp100Gly (D100G)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178377A>G"	""	"likely pathogenic (dominant)"	""
"0000872312"	"0"	"70"	"6"	"42146115"	"42146115"	"subst"	"0"	"00000"	"GUCA1A_000044"	"g.42146115A>G"	""	"{PMID:Nong 2014:24352742}"	""	"GUCA1A c.299 A>G p.Asp100Gly (D100G)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178377A>G"	""	"likely pathogenic (dominant)"	""
"0000872313"	"0"	"70"	"6"	"42146115"	"42146115"	"subst"	"0"	"00000"	"GUCA1A_000044"	"g.42146115A>G"	""	"{PMID:Nong 2014:24352742}"	""	"GUCA1A c.299 A>G p.Asp100Gly (D100G)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178377A>G"	""	"likely pathogenic (dominant)"	""
"0000872315"	"0"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872316"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872317"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872318"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872319"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872320"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872321"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872322"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872323"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872324"	"21"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872325"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872326"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872327"	"11"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Jiang 2005:15735604}"	""	"GUCA1A  C451T, l L151F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	""
"0000872329"	"0"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872330"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872331"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872332"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872333"	"21"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872334"	"21"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872335"	"11"	"70"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Payne 1998:9425234}"	""	"GUCA1A Y99C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>G"	""	"likely pathogenic (dominant)"	""
"0000872336"	"10"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872337"	"10"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872338"	"21"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872339"	"11"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872340"	"0"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872341"	"11"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872342"	"11"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872343"	"11"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872344"	"0"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872345"	"11"	"70"	"6"	"42147061"	"42147061"	"subst"	"0"	"00000"	"GUCA1A_000007"	"g.42147061C>T"	""	"{PMID:Vocke 2017:28025326}"	""	"GUCA1A c.526C> T, p.L176F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179323C>T"	""	"likely pathogenic (dominant)"	""
"0000872346"	"0"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872347"	"0"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872348"	"0"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872349"	"20"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872350"	"20"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872351"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872352"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872353"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872354"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872355"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872356"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872357"	"11"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872358"	"11"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872359"	"11"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872360"	"11"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872361"	"11"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872362"	"11"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872363"	"21"	"70"	"6"	"42146547"	"42146548"	"delins"	"0"	"00000"	"GUCA1A_000047"	"g.42146547_42146548delinsTT"	""	"{PMID:Chen 2017:28125083}"	""	"GUCA1A c.359_360delinsTT, p.R120L"	"heterozygous; functional analyses: causes atrophy of photoreceptors, retinal pigment epithelium, retinal vessels, and choriocapillaris, probably in a gain-of-function manner"	"Germline"	"yes"	""	"0"	""	""	"g.42178809_42178810delinsTT"	""	"likely pathogenic (dominant)"	""
"0000872373"	"20"	"70"	"6"	"42146118"	"42146120"	"del"	"0"	"00000"	"GUCA1A_000045"	"g.42146118_42146120del"	""	"{PMID:Manes 2019:28442884}"	""	"GUCA1A c.302_304delTAG (p.Val101del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178380_42178382del"	""	"likely pathogenic (dominant)"	""
"0000872374"	"21"	"70"	"6"	"42146118"	"42146120"	"del"	"0"	"00000"	"GUCA1A_000045"	"g.42146118_42146120del"	""	"{PMID:Manes 2019:28442884}"	""	"GUCA1A c.302_304delTAG (p.Val101del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178380_42178382del"	""	"likely pathogenic (dominant)"	""
"0000872375"	"21"	"70"	"6"	"42146118"	"42146120"	"del"	"0"	"00000"	"GUCA1A_000045"	"g.42146118_42146120del"	""	"{PMID:Manes 2019:28442884}"	""	"GUCA1A c.302_304delTAG (p.Val101del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178380_42178382del"	""	"likely pathogenic (dominant)"	""
"0000872376"	"10"	"70"	"6"	"42146632"	"42146632"	"subst"	"0"	"00000"	"GUCA1A_000048"	"g.42146632T>A"	""	"{PMID:Manes 2019:28442884}"	""	"GUCA1A c.444T>A (p.Asp148Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178894T>A"	""	"likely pathogenic (dominant)"	""
"0000872377"	"11"	"70"	"6"	"42146632"	"42146632"	"subst"	"0"	"00000"	"GUCA1A_000048"	"g.42146632T>A"	""	"{PMID:Manes 2019:28442884}"	""	"GUCA1A c.444T>A (p.Asp148Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178894T>A"	""	"likely pathogenic (dominant)"	""
"0000872378"	"21"	"70"	"6"	"42146632"	"42146632"	"subst"	"0"	"00000"	"GUCA1A_000048"	"g.42146632T>A"	""	"{PMID:Manes 2019:28442884}"	""	"GUCA1A c.444T>A (p.Asp148Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178894T>A"	""	"likely pathogenic (dominant)"	""
"0000872380"	"10"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872381"	"10"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872382"	"10"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872383"	"10"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872384"	"11"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872385"	"21"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872386"	"21"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872387"	"21"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872388"	"11"	"70"	"6"	"42146616"	"42146616"	"delins"	"0"	"00000"	"GUCA1A_000026"	"g.42146616delinsACAC"	""	"{PMID:Song 2018:29074494}"	""	"GUCA1A c.428delTinsACAC"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178878delinsACAC"	""	"likely pathogenic (dominant)"	""
"0000872392"	"0"	"90"	"6"	"42146148"	"42146148"	"subst"	"0"	"00000"	"GUCA1A_000049"	"g.42146148A>T"	""	"{PMID:Marino 2018:30184081}"	""	"GUCA1A c.332A>T; p.(Glu111Val) - E111V"	"disrupts the coordination of the Ca2+ ion in the high-affinity site significantly decreasing the ability of GCAP1 to sense Ca2+; prone to severe aggregation over time; shifts the GC inhibition leading to the aberrant constitutive synthesis of cGMP under conditions of dark-adapted photoreceptors; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178410A>T"	""	"pathogenic (dominant)"	""
"0000872393"	"11"	"90"	"6"	"42146148"	"42146148"	"subst"	"0"	"00000"	"GUCA1A_000049"	"g.42146148A>T"	""	"{PMID:Marino 2018:30184081}"	""	"GUCA1A c.332A>T; p.(Glu111Val) - E111V"	"disrupts the coordination of the Ca2+ ion in the high-affinity site significantly decreasing the ability of GCAP1 to sense Ca2+; prone to severe aggregation over time; shifts the GC inhibition leading to the aberrant constitutive synthesis of cGMP under conditions of dark-adapted photoreceptors; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178410A>T"	""	"pathogenic (dominant)"	""
"0000872394"	"11"	"90"	"6"	"42146148"	"42146148"	"subst"	"0"	"00000"	"GUCA1A_000049"	"g.42146148A>T"	""	"{PMID:Marino 2018:30184081}"	""	"GUCA1A c.332A>T; p.(Glu111Val) - E111V"	"disrupts the coordination of the Ca2+ ion in the high-affinity site significantly decreasing the ability of GCAP1 to sense Ca2+; prone to severe aggregation over time; shifts the GC inhibition leading to the aberrant constitutive synthesis of cGMP under conditions of dark-adapted photoreceptors; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178410A>T"	""	"pathogenic (dominant)"	""
"0000872395"	"20"	"90"	"6"	"42146072"	"42146072"	"subst"	"0"	"00000"	"GUCA1A_000053"	"g.42146072G>C"	""	"{PMID:Peshenko 2019:30622141}"	""	"GUCA1A c.256G -> C, G86R"	"functional analyses: abnormally high affinity for the target enzyme and reduced Ca2+ sensitivity of GCAP1 predicted to abnormally elevate cGMP production and Ca2+ influx in photoreceptors in the dark; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178334G>C"	""	"pathogenic (dominant)"	""
"0000872396"	"10"	"90"	"6"	"42146072"	"42146072"	"subst"	"0"	"00000"	"GUCA1A_000053"	"g.42146072G>C"	""	"{PMID:Peshenko 2019:30622141}"	""	"GUCA1A c.256G -> C, G86R"	"functional analyses: abnormally high affinity for the target enzyme and reduced Ca2+ sensitivity of GCAP1 predicted to abnormally elevate cGMP production and Ca2+ influx in photoreceptors in the dark; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178334G>C"	""	"pathogenic (dominant)"	""
"0000872397"	"21"	"90"	"6"	"42146072"	"42146072"	"subst"	"0"	"00000"	"GUCA1A_000053"	"g.42146072G>C"	""	"{PMID:Peshenko 2019:30622141}"	""	"GUCA1A c.256G -> C, G86R"	"functional analyses: abnormally high affinity for the target enzyme and reduced Ca2+ sensitivity of GCAP1 predicted to abnormally elevate cGMP production and Ca2+ influx in photoreceptors in the dark; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178334G>C"	""	"pathogenic (dominant)"	""
"0000872400"	"21"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000055"	"g.42146112A>C"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.296 A> C (p.Y99S)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>C"	""	"pathogenic (dominant)"	"ACMG"
"0000872401"	"0"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"00000"	"GUCA1A_000055"	"g.42146112A>C"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.296 A> C (p.Y99S)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178374A>C"	""	"pathogenic (dominant)"	"ACMG"
"0000872402"	"11"	"90"	"6"	"42146111"	"42146111"	"subst"	"0"	"00000"	"GUCA1A_000054"	"g.42146111T>A"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.295 T>A (p.Y99N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178373T>A"	""	"pathogenic (dominant)"	"ACMG"
"0000872403"	"0"	"90"	"6"	"42146111"	"42146111"	"subst"	"0"	"00000"	"GUCA1A_000054"	"g.42146111T>A"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.295 T>A (p.Y99N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178373T>A"	""	"pathogenic (dominant)"	"ACMG"
"0000872404"	"11"	"90"	"6"	"42146111"	"42146111"	"subst"	"0"	"00000"	"GUCA1A_000054"	"g.42146111T>A"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.295 T>A (p.Y99N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178373T>A"	""	"pathogenic (dominant)"	"ACMG"
"0000872405"	"21"	"90"	"6"	"42146111"	"42146111"	"subst"	"0"	"00000"	"GUCA1A_000054"	"g.42146111T>A"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.295 T>A (p.Y99N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42178373T>A"	""	"pathogenic (dominant)"	"ACMG"
"0000872406"	"11"	"90"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.451 C> T (p.L151F)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000872407"	"0"	"90"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.451 C> T (p.L151F)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000872408"	"11"	"90"	"6"	"42146986"	"42146986"	"subst"	"0"	"00000"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.451 C> T (p.L151F)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.42179248C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000872409"	"0"	"50"	"6"	"42141401"	"42141431"	"del"	"0"	"00000"	"GUCA1A_000050"	"g.42141401_42141431del"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.C50_80del p.E17VfsX22"	"number of normal cases with GUCA1A variant: 3; heterozygous"	"Unknown"	"no"	""	"0"	""	""	"g.42173663_42173693del"	""	"VUS"	"ACMG"
"0000872410"	"0"	"50"	"6"	"42141475"	"42141475"	"subst"	"8.12117E-5"	"00000"	"GUCA1A_000016"	"g.42141475T>A"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.124T>A p.F42I"	"number of normal cases with GUCA1A variant: 2; heterozygous"	"Unknown"	"no"	""	"0"	""	""	"g.42173737T>A"	""	"VUS"	"ACMG"
"0000872411"	"0"	"50"	"6"	"42146020"	"42146020"	"subst"	"0"	"00000"	"GUCA1A_000051"	"g.42146020C>G"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.204C>G p.D68E"	"number of normal cases with GUCA1A variant: 1; heterozygous"	"Unknown"	"no"	""	"0"	""	""	"g.42178282C>G"	""	"VUS"	"ACMG"
"0000872412"	"0"	"50"	"6"	"42146054"	"42146054"	"subst"	"0"	"00000"	"GUCA1A_000052"	"g.42146054C>A"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.238C>A p.L80I"	"number of normal cases with GUCA1A variant: 2; heterozygous"	"Unknown"	"no"	""	"0"	""	""	"g.42178316C>A"	""	"VUS"	"ACMG"
"0000872413"	"0"	"50"	"6"	"42147086"	"42147086"	"subst"	"7.78089E-5"	"00000"	"GUCA1A_000057"	"g.42147086A>G"	""	"{PMID:Mizobuchi 2019:31728034}"	""	"GUCA1A c.551A>G p.Q184R"	"number of normal cases with GUCA1A variant: 2; heterozygous"	"Unknown"	"no"	""	"0"	""	""	"g.42179348A>G"	""	"VUS"	"ACMG"
"0000872461"	"0"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000872462"	"11"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000872463"	"11"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000872464"	"21"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000872465"	"21"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000872466"	"21"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000872467"	"11"	"90"	"6"	"42146619"	"42146619"	"subst"	"0"	"00000"	"GUCA1A_000056"	"g.42146619A>G"	""	"{PMID:Tang 2019:32025184}"	""	"GUCA1A c.431A>G, p.D144G"	"heterozygous; protein more susceptible to hydrolysis, slower mobility in the presence of Ca2+; at high Ca2+ concentrations, stimulated retGC1 in the HEK-293 membrane to significantly increase intracellular cGMP protein concentrations; increased interaction with retGC1, as detected in the coimmunoprecipitation assay"	"Germline"	"yes"	""	"0"	""	""	"g.42178881A>G"	""	"pathogenic (dominant)"	""
"0000881429"	"1"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"04405"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic"	"ACMG"
"0000881430"	"1"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"04405"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic"	"ACMG"
"0000887248"	"0"	"30"	"6"	"42141563"	"42141563"	"subst"	"1.22025E-5"	"02330"	"GUCA1A_000058"	"g.42141563G>T"	""	""	""	"LOC118142757(NM_001319061.2):c.201+11G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000887249"	"0"	"50"	"6"	"42146619"	"42146619"	"subst"	"0"	"02330"	"GUCA1A_000059"	"g.42146619A>C"	""	""	""	"LOC118142757(NM_001319061.2):c.431A>C (p.D144A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000898137"	"0"	"70"	"6"	"42141406"	"42141406"	"subst"	"0"	"00000"	"GUCA1A_000060"	"g.42141406C>T"	""	"{PMID:Abbas 2020:32298085}"	""	"GUCA1A c.55C > T (p.H19Y)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42173668C>T"	""	"likely pathogenic"	""
"0000898138"	"0"	"70"	"6"	"42147014"	"42147014"	"subst"	"0"	"00000"	"GUCA1A_000061"	"g.42147014T>G"	""	"{PMID:Abbas 2020:32298085}"	""	"GUCA1A c.479T > G (p.V160G)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.42179276T>G"	""	"likely pathogenic"	""
"0000912521"	"0"	"50"	"6"	"42147000"	"42147000"	"subst"	"0"	"02327"	"GUCA1A_000062"	"g.42147000G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000958112"	"1"	"70"	"6"	"42146986"	"42146986"	"subst"	"0"	"00006"	"GUCA1A_000023"	"g.42146986C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.42179248C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000958122"	"1"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"00006"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000958211"	"1"	"70"	"6"	"42146547"	"42146547"	"subst"	"0"	"00006"	"GUCA1A_000036"	"g.42146547G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.42178809G>T"	"802212"	"likely pathogenic (dominant)"	"ACMG"
"0000958220"	"0"	"70"	"6"	"42146081"	"42146081"	"subst"	"0"	"00006"	"GUCA1A_000039"	"g.42146081G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1, PP2, PP5"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.42178343G>A"	"986883"	"likely pathogenic (dominant)"	"ACMG"
"0000959163"	"0"	"70"	"6"	"42039467"	"42275673"	"dup"	"0"	"00006"	"C6orf132_000007"	"g.42039467_42275673dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000986427"	"1"	"90"	"6"	"42146547"	"42146547"	"subst"	"0"	"04405"	"GUCA1A_000036"	"g.42146547G>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178809G>T"	""	"pathogenic"	"ACMG"
"0000986428"	"1"	"70"	"6"	"42146618"	"42146618"	"subst"	"0"	"04405"	"GUCA1A_000063"	"g.42146618G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178880G>A"	""	"likely pathogenic"	"ACMG"
"0000986429"	"1"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"04405"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic"	"ACMG"
"0000986430"	"1"	"70"	"6"	"42146066"	"42146066"	"subst"	"0"	"04405"	"GUCA1A_000043"	"g.42146066C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178328C>T"	""	"likely pathogenic"	"ACMG"
"0000986431"	"1"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"04405"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic"	"ACMG"
"0000986832"	"1"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"04405"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"carries likely causative variants in more than one gene"	"Germline"	""	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic"	"ACMG"
"0000986835"	"1"	"90"	"6"	"42146112"	"42146112"	"subst"	"0"	"04405"	"GUCA1A_000019"	"g.42146112A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"carries likely causative variants in more than one gene"	"Germline"	""	""	"0"	""	""	"g.42178374A>G"	""	"pathogenic"	"ACMG"
"0000995764"	"0"	"50"	"6"	"42146559"	"42146559"	"subst"	"4.06088E-6"	"02330"	"GUCA1A_000064"	"g.42146559C>T"	""	""	""	"GUCA1A(NM_001384910.1):c.371C>T (p.P124L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 GUCA1A
## Count = 271
"{{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}}"
"0000059890"	"00009059"	"50"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	"3"
"0000059891"	"00009059"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Ala200Thr)"	"6"
"0000277517"	"00009059"	"10"	"616"	"0"	"616"	"0"	"c.*10C>A"	"r.(=)"	"p.(=)"	""
"0000277518"	"00009059"	"30"	"166"	"0"	"166"	"0"	"c.166G>T"	"r.(?)"	"p.(Val56Leu)"	""
"0000277519"	"00009059"	"30"	"202"	"-16"	"202"	"-16"	"c.202-16C>T"	"r.(=)"	"p.(=)"	""
"0000277520"	"00009059"	"10"	"216"	"0"	"216"	"0"	"c.216T>C"	"r.(?)"	"p.(Asp72=)"	""
"0000277521"	"00009059"	"10"	"446"	"-18"	"446"	"-18"	"c.446-18C>A"	"r.(=)"	"p.(=)"	""
"0000277522"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000288886"	"00009059"	"30"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000288887"	"00009059"	"30"	"567"	"0"	"567"	"0"	"c.567C>T"	"r.(?)"	"p.(Asp189=)"	""
"0000288888"	"00009059"	"30"	"6051"	"0"	"6051"	"0"	"c.*5445G>A"	"r.(=)"	"p.(=)"	""
"0000346794"	"00009059"	"50"	"212"	"0"	"212"	"0"	"c.212T>C"	"r.(?)"	"p.(Ile71Thr)"	""
"0000487557"	"00009059"	"90"	"328"	"0"	"337"	"0"	"c.328_337del"	"r.(?)"	"p.(Asp110Serfs*18)"	"4"
"0000528841"	"00009059"	"30"	"-458"	"2"	"-458"	"2"	"c.-458+2T>C"	"r.spl?"	"p.?"	""
"0000528842"	"00009059"	"10"	"9"	"0"	"9"	"0"	"c.9C>T"	"r.(?)"	"p.(Asn3=)"	""
"0000528843"	"00009059"	"30"	"42"	"0"	"42"	"0"	"c.42C>T"	"r.(?)"	"p.(Ser14=)"	""
"0000528844"	"00009059"	"50"	"64"	"0"	"64"	"0"	"c.64T>C"	"r.(?)"	"p.(Tyr22His)"	""
"0000528845"	"00009059"	"50"	"124"	"0"	"124"	"0"	"c.124T>A"	"r.(?)"	"p.(Phe42Ile)"	""
"0000528846"	"00009059"	"90"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Glu111Lys)"	""
"0000651964"	"00009059"	"30"	"-457"	"-8"	"-457"	"-8"	"c.-457-8C>T"	"r.(=)"	"p.(=)"	""
"0000669918"	"00009059"	"30"	"-457"	"-8"	"-457"	"-8"	"c.-457-8C>T"	"r.(=)"	"p.(=)"	""
"0000684395"	"00009059"	"70"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	"3"
"0000689737"	"00009059"	"30"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000710251"	"00009059"	"90"	"328"	"0"	"337"	"0"	"c.328_337del"	"r.(?)"	"p.(Asp110Serfs*18)"	""
"0000713245"	"00009059"	"90"	"332"	"0"	"332"	"0"	"c.332A>C"	"r.(?)"	"p.(Glu111Ala)"	""
"0000713398"	"00009059"	"90"	"332"	"0"	"332"	"0"	"c.332A>C"	"r.(?)"	"p.(Glu111Ala)"	""
"0000713438"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000713558"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000714032"	"00009059"	"70"	"424"	"0"	"424"	"0"	"c.424A>G"	"r.(?)"	"p.(Lys142Glu)"	""
"0000729791"	"00009059"	"90"	"312"	"0"	"312"	"0"	"c.312C>A"	"r.(?)"	"p.(Asn104Lys)"	""
"0000730681"	"00009059"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"6"
"0000730682"	"00009059"	"90"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	"6"
"0000730683"	"00009059"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"6"
"0000730993"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000732538"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000732577"	"00009059"	"50"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000732600"	"00009059"	"50"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000732817"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000732859"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000732860"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000732861"	"00009059"	"70"	"306"	"0"	"306"	"0"	"c.306T>A"	"r.(?)"	"p.(Asp102Glu)"	""
"0000732862"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	""
"0000732863"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000732869"	"00009059"	"70"	"193"	"0"	"193"	"0"	"c.193T>G"	"r.(?)"	"p.(Phe65Val)"	""
"0000760264"	"00009059"	"70"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000763872"	"00009059"	"70"	"304"	"0"	"304"	"0"	"c.304G>C"	"r.(?)"	"p.(Asp102His)"	""
"0000763873"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>C"	"r.(?)"	"p.(Glu155Ala)"	""
"0000764884"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000784623"	"00009059"	"50"	"359"	"0"	"359"	"0"	"c.359G>A"	"r.(?)"	"p.(Arg120His)"	""
"0000797673"	"00009059"	"90"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000797674"	"00009059"	"90"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	""
"0000802593"	"00009059"	"30"	"351"	"11"	"351"	"11"	"c.351+11C>T"	"r.(=)"	"p.(=)"	""
"0000817624"	"00009059"	"70"	"429"	"0"	"430"	"0"	"c.429_430insACA"	"r.(?)"	"p.(Ile143_Asp144insThr)"	""
"0000817625"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428T>C"	"r.(?)"	"p.(Ile143Thr)"	""
"0000818190"	"00009059"	"90"	"341"	"0"	"341"	"0"	"c.341C>T"	"r.(?)"	"p.(Thr114Ile)"	"4"
"0000819795"	"00009059"	"70"	"359"	"0"	"359"	"0"	"c.359G>T"	"r.(?)"	"p.(Arg120Leu)"	""
"0000819796"	"00009059"	"70"	"359"	"0"	"359"	"0"	"c.359G>T"	"r.(?)"	"p.(Arg120Leu)"	""
"0000820317"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000820318"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000820319"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000820320"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000820406"	"00009059"	"70"	"443"	"0"	"443"	"0"	"c.443A>C"	"r.(?)"	"p.(Asp148Ala)"	""
"0000820407"	"00009059"	"70"	"443"	"0"	"443"	"0"	"c.443A>C"	"r.(?)"	"p.(Asp148Ala)"	""
"0000821265"	"00009059"	"70"	"332"	"0"	"332"	"0"	"c.332A>C"	"r.(?)"	"p.(Glu111Ala)"	""
"0000821266"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000821267"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000822495"	"00009059"	"70"	"333"	"0"	"333"	"0"	"c.333G>C"	"r.(?)"	"p.(Glu111Asp)"	"4"
"0000822694"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	"6"
"0000822695"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"6"
"0000822696"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	"6"
"0000822697"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	"6"
"0000825977"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000826005"	"00009059"	"70"	"475"	"0"	"475"	"0"	"c.475G>T"	"r.(?)"	"p.(Gly159Cys)"	"6"
"0000844208"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000844209"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000844210"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000844211"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000844279"	"00009059"	"70"	"265"	"0"	"265"	"0"	"c.265G>A"	"r.(?)"	"p.(Glu89Lys)"	""
"0000844280"	"00009059"	"70"	"300"	"0"	"300"	"0"	"c.300T>A"	"r.(?)"	"p.(Asp100Glu)"	""
"0000844281"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000844282"	"00009059"	"70"	"476"	"0"	"476"	"0"	"c.476G>T"	"r.(?)"	"p.(Gly159Val)"	""
"0000860351"	"00009059"	"50"	"152"	"0"	"152"	"0"	"c.152C>T"	"r.(?)"	"p.(Ser51Leu)"	""
"0000872218"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872219"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872220"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872221"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872222"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872223"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872224"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872225"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872226"	"00009059"	"70"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	"3"
"0000872227"	"00009059"	"70"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	"3"
"0000872228"	"00009059"	"70"	"149"	"0"	"149"	"0"	"c.149C>T"	"r.(?)"	"p.(Pro50Leu)"	"3"
"0000872229"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872230"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872231"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872232"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872233"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872234"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872235"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872236"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872237"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872238"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872239"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872240"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872241"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872242"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872243"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872244"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872245"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872246"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872247"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872248"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872249"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872250"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872251"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872252"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872253"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872254"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872255"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872256"	"00009059"	"70"	"464"	"0"	"464"	"0"	"c.464A>G"	"r.(?)"	"p.(Glu155Gly)"	"6"
"0000872257"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delTinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	"5"
"0000872258"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delTinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	"5"
"0000872259"	"00009059"	"70"	"341"	"0"	"341"	"0"	"c.341C>T"	"r.(?)"	"p.(Thr114Ile)"	"4"
"0000872273"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872274"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872275"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872276"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872277"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872278"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872279"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872280"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872281"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872282"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872283"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872284"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	"5"
"0000872285"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872286"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872287"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872288"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872289"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872290"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872295"	"00009059"	"70"	"312"	"0"	"312"	"0"	"c.312C>A"	"r.(?)"	"p.(Asn104Lys)"	"4"
"0000872296"	"00009059"	"70"	"312"	"0"	"312"	"0"	"c.312C>A"	"r.(?)"	"p.(Asn104Lys)"	"4"
"0000872297"	"00009059"	"70"	"312"	"0"	"312"	"0"	"c.312C>A"	"r.(?)"	"p.(Asn104Lys)"	"4"
"0000872298"	"00009059"	"70"	"265"	"0"	"265"	"0"	"c.265G>A"	"r.(?)"	"p.(Glu89Lys)"	""
"0000872299"	"00009059"	"70"	"300"	"0"	"300"	"0"	"c.300T>A"	"r.(?)"	"p.(Asp100Glu)"	""
"0000872300"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872301"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872302"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872303"	"00009059"	"70"	"476"	"0"	"476"	"0"	"c.476G>T"	"r.(?)"	"p.(Gly159Val)"	""
"0000872304"	"00009059"	"70"	"476"	"0"	"476"	"0"	"c.476G>T"	"r.(?)"	"p.(Gly159Val)"	""
"0000872305"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000872306"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000872307"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000872308"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000872309"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000872310"	"00009059"	"70"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Ile107Thr)"	""
"0000872311"	"00009059"	"70"	"299"	"0"	"299"	"0"	"c.299A>G"	"r.(?)"	"p.(Asp100Gly)"	""
"0000872312"	"00009059"	"70"	"299"	"0"	"299"	"0"	"c.299A>G"	"r.(?)"	"p.(Asp100Gly)"	""
"0000872313"	"00009059"	"70"	"299"	"0"	"299"	"0"	"c.299A>G"	"r.(?)"	"p.(Asp100Gly)"	""
"0000872315"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872316"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872317"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872318"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872319"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872320"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872321"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872322"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872323"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872324"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872325"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872326"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872327"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872329"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872330"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872331"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872332"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872333"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872334"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872335"	"00009059"	"70"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000872336"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872337"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872338"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872339"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872340"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872341"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872342"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872343"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872344"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872345"	"00009059"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Leu176Phe)"	""
"0000872346"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872347"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872348"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872349"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872350"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872351"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872352"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872353"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872354"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872355"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872356"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872357"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872358"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872359"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872360"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872361"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872362"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872363"	"00009059"	"70"	"359"	"0"	"360"	"0"	"c.359_360delinsTT"	"r.(?)"	"p.(Arg120Leu)"	""
"0000872373"	"00009059"	"70"	"302"	"0"	"304"	"0"	"c.302_304delTAG"	"r.(?)"	"p.(Val101del)"	""
"0000872374"	"00009059"	"70"	"302"	"0"	"304"	"0"	"c.302_304delTAG"	"r.(?)"	"p.(Val101del)"	""
"0000872375"	"00009059"	"70"	"302"	"0"	"304"	"0"	"c.302_304delTAG"	"r.(?)"	"p.(Val101del)"	""
"0000872376"	"00009059"	"70"	"444"	"0"	"444"	"0"	"c.444T>A"	"r.(?)"	"p.(Asp148Glu)"	""
"0000872377"	"00009059"	"70"	"444"	"0"	"444"	"0"	"c.444T>A"	"r.(?)"	"p.(Asp148Glu)"	""
"0000872378"	"00009059"	"70"	"444"	"0"	"444"	"0"	"c.444T>A"	"r.(?)"	"p.(Asp148Glu)"	""
"0000872380"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872381"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872382"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872383"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872384"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872385"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872386"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872387"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872388"	"00009059"	"70"	"428"	"0"	"428"	"0"	"c.428delinsACAC"	"r.(?)"	"p.(Ile143delinsAsnThr)"	""
"0000872392"	"00009059"	"90"	"332"	"0"	"332"	"0"	"c.332A>T"	"r.(?)"	"p.(Glu111Val)"	""
"0000872393"	"00009059"	"90"	"332"	"0"	"332"	"0"	"c.332A>T"	"r.(?)"	"p.(Glu111Val)"	""
"0000872394"	"00009059"	"90"	"332"	"0"	"332"	"0"	"c.332A>T"	"r.(?)"	"p.(Glu111Val)"	""
"0000872395"	"00009059"	"90"	"256"	"0"	"256"	"0"	"c.256G>C"	"r.(?)"	"p.(Gly86Arg)"	""
"0000872396"	"00009059"	"90"	"256"	"0"	"256"	"0"	"c.256G>C"	"r.(?)"	"p.(Gly86Arg)"	""
"0000872397"	"00009059"	"90"	"256"	"0"	"256"	"0"	"c.256G>C"	"r.(?)"	"p.(Gly86Arg)"	""
"0000872400"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>C"	"r.(?)"	"p.(Tyr99Ser)"	""
"0000872401"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>C"	"r.(?)"	"p.(Tyr99Ser)"	""
"0000872402"	"00009059"	"90"	"295"	"0"	"295"	"0"	"c.295T>A"	"r.(?)"	"p.(Tyr99Asn)"	""
"0000872403"	"00009059"	"90"	"295"	"0"	"295"	"0"	"c.295T>A"	"r.(?)"	"p.(Tyr99Asn)"	""
"0000872404"	"00009059"	"90"	"295"	"0"	"295"	"0"	"c.295T>A"	"r.(?)"	"p.(Tyr99Asn)"	""
"0000872405"	"00009059"	"90"	"295"	"0"	"295"	"0"	"c.295T>A"	"r.(?)"	"p.(Tyr99Asn)"	""
"0000872406"	"00009059"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872407"	"00009059"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872408"	"00009059"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000872409"	"00009059"	"50"	"50"	"0"	"80"	"0"	"c.50_80del"	"r.(?)"	"p.(Glu17Valfs*22)"	""
"0000872410"	"00009059"	"50"	"124"	"0"	"124"	"0"	"c.124T>A"	"r.(?)"	"p.(Phe42Ile)"	""
"0000872411"	"00009059"	"50"	"204"	"0"	"204"	"0"	"c.204C>G"	"r.(?)"	"p.(Asp68Glu)"	""
"0000872412"	"00009059"	"50"	"238"	"0"	"238"	"0"	"c.238C>A"	"r.(?)"	"p.(Leu80Ile)"	""
"0000872413"	"00009059"	"50"	"551"	"0"	"551"	"0"	"c.551A>G"	"r.(?)"	"p.(Gln184Arg)"	""
"0000872461"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000872462"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000872463"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000872464"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000872465"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000872466"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000872467"	"00009059"	"90"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Asp144Gly)"	"5"
"0000881429"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000881430"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	""
"0000887248"	"00009059"	"30"	"201"	"11"	"201"	"11"	"c.201+11G>T"	"r.(=)"	"p.(=)"	""
"0000887249"	"00009059"	"50"	"431"	"0"	"431"	"0"	"c.431A>C"	"r.(?)"	"p.(Asp144Ala)"	""
"0000898137"	"00009059"	"70"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"(p.H19Y)"	""
"0000898138"	"00009059"	"70"	"479"	"0"	"479"	"0"	"c.479T>G"	"r.(?)"	"(p.V160G)"	""
"0000912521"	"00009059"	"50"	"465"	"0"	"465"	"0"	"c.465G>T"	"r.(?)"	"p.(Glu155Asp)"	""
"0000958112"	"00009059"	"70"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Leu151Phe)"	""
"0000958122"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	""
"0000958211"	"00009059"	"70"	"359"	"0"	"359"	"0"	"c.359G>T"	"r.(?)"	"p.(Arg120Leu)"	""
"0000958220"	"00009059"	"70"	"265"	"0"	"265"	"0"	"c.265G>A"	"r.(?)"	"p.(Glu89Lys)"	""
"0000959163"	"00009059"	"70"	"-84322"	"0"	"129138"	"0"	"c.-84322_*128532dup"	"r.0?"	"p.0?"	""
"0000986427"	"00009059"	"90"	"359"	"0"	"359"	"0"	"c.359G>T"	"r.(?)"	"p.(Arg120Leu)"	"5"
"0000986428"	"00009059"	"70"	"430"	"0"	"430"	"0"	"c.430G>A"	"r.(?)"	"p.(Asp144Asn)"	"5"
"0000986429"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	"4"
"0000986430"	"00009059"	"70"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Leu84Phe)"	"4"
"0000986431"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"4"
"0000986832"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"2"
"0000986835"	"00009059"	"90"	"296"	"0"	"296"	"0"	"c.296A>G"	"r.(?)"	"p.(Tyr99Cys)"	"2"
"0000995764"	"00009059"	"50"	"371"	"0"	"371"	"0"	"c.371C>T"	"r.(?)"	"p.(Pro124Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 248
"{{screeningid}}"	"{{variantid}}"
"0000033168"	"0000059890"
"0000033201"	"0000059891"
"0000241547"	"0000487557"
"0000295275"	"0000651964"
"0000306230"	"0000669918"
"0000309530"	"0000684395"
"0000326659"	"0000710251"
"0000329122"	"0000713245"
"0000329275"	"0000713398"
"0000329315"	"0000713438"
"0000329435"	"0000713558"
"0000329675"	"0000714032"
"0000332513"	"0000729791"
"0000333257"	"0000730681"
"0000333258"	"0000730682"
"0000333259"	"0000730683"
"0000333418"	"0000730993"
"0000334606"	"0000732538"
"0000334644"	"0000732600"
"0000334645"	"0000732577"
"0000334810"	"0000732817"
"0000334852"	"0000732859"
"0000334853"	"0000732860"
"0000334854"	"0000732861"
"0000334855"	"0000732862"
"0000334856"	"0000732863"
"0000334862"	"0000732869"
"0000360372"	"0000760264"
"0000363295"	"0000763872"
"0000363296"	"0000763873"
"0000364122"	"0000764884"
"0000373923"	"0000784623"
"0000383525"	"0000797673"
"0000383526"	"0000797674"
"0000388848"	"0000817624"
"0000388848"	"0000817625"
"0000389271"	"0000818190"
"0000390450"	"0000819795"
"0000390451"	"0000819796"
"0000390972"	"0000820317"
"0000390973"	"0000820318"
"0000390974"	"0000820319"
"0000390975"	"0000820320"
"0000391061"	"0000820406"
"0000391062"	"0000820407"
"0000391516"	"0000821265"
"0000391517"	"0000821266"
"0000391518"	"0000821267"
"0000392250"	"0000822495"
"0000392403"	"0000822694"
"0000392404"	"0000822695"
"0000392405"	"0000822696"
"0000392406"	"0000822697"
"0000394896"	"0000825977"
"0000394915"	"0000826005"
"0000407538"	"0000844208"
"0000407539"	"0000844209"
"0000407540"	"0000844210"
"0000407541"	"0000844211"
"0000407602"	"0000844279"
"0000407603"	"0000844280"
"0000407604"	"0000844281"
"0000407605"	"0000844282"
"0000414528"	"0000872218"
"0000414529"	"0000872219"
"0000414530"	"0000872220"
"0000414531"	"0000872221"
"0000414532"	"0000872222"
"0000414533"	"0000872223"
"0000414534"	"0000872224"
"0000414535"	"0000872225"
"0000414536"	"0000872226"
"0000414537"	"0000872227"
"0000414538"	"0000872228"
"0000414539"	"0000872229"
"0000414540"	"0000872230"
"0000414541"	"0000872231"
"0000414542"	"0000872232"
"0000414543"	"0000872233"
"0000414544"	"0000872234"
"0000414545"	"0000872235"
"0000414546"	"0000872236"
"0000414547"	"0000872237"
"0000414548"	"0000872238"
"0000414549"	"0000872239"
"0000414550"	"0000872240"
"0000414551"	"0000872241"
"0000414552"	"0000872242"
"0000414553"	"0000872243"
"0000414554"	"0000872244"
"0000414555"	"0000872245"
"0000414556"	"0000872246"
"0000414557"	"0000872247"
"0000414558"	"0000872248"
"0000414559"	"0000872249"
"0000414560"	"0000872250"
"0000414561"	"0000872251"
"0000414562"	"0000872252"
"0000414563"	"0000872253"
"0000414564"	"0000872254"
"0000414565"	"0000872255"
"0000414566"	"0000872256"
"0000414567"	"0000872257"
"0000414568"	"0000872258"
"0000414569"	"0000872259"
"0000414575"	"0000872273"
"0000414576"	"0000872274"
"0000414577"	"0000872275"
"0000414578"	"0000872276"
"0000414579"	"0000872277"
"0000414580"	"0000872278"
"0000414581"	"0000872279"
"0000414582"	"0000872280"
"0000414583"	"0000872281"
"0000414584"	"0000872282"
"0000414585"	"0000872283"
"0000414586"	"0000872284"
"0000414587"	"0000872285"
"0000414588"	"0000872286"
"0000414589"	"0000872287"
"0000414590"	"0000872288"
"0000414591"	"0000872289"
"0000414592"	"0000872290"
"0000414600"	"0000872295"
"0000414601"	"0000872296"
"0000414602"	"0000872297"
"0000414603"	"0000872298"
"0000414604"	"0000872299"
"0000414605"	"0000872300"
"0000414606"	"0000872301"
"0000414607"	"0000872302"
"0000414608"	"0000872303"
"0000414609"	"0000872304"
"0000414610"	"0000872305"
"0000414611"	"0000872306"
"0000414612"	"0000872307"
"0000414613"	"0000872308"
"0000414614"	"0000872309"
"0000414615"	"0000872310"
"0000414616"	"0000872311"
"0000414617"	"0000872312"
"0000414618"	"0000872313"
"0000414621"	"0000872315"
"0000414622"	"0000872316"
"0000414623"	"0000872317"
"0000414624"	"0000872318"
"0000414625"	"0000872319"
"0000414626"	"0000872320"
"0000414627"	"0000872321"
"0000414628"	"0000872322"
"0000414629"	"0000872323"
"0000414630"	"0000872324"
"0000414631"	"0000872325"
"0000414632"	"0000872326"
"0000414633"	"0000872327"
"0000414634"	"0000872329"
"0000414635"	"0000872330"
"0000414636"	"0000872331"
"0000414637"	"0000872332"
"0000414638"	"0000872333"
"0000414639"	"0000872334"
"0000414640"	"0000872335"
"0000414641"	"0000872336"
"0000414642"	"0000872337"
"0000414643"	"0000872338"
"0000414644"	"0000872339"
"0000414645"	"0000872340"
"0000414646"	"0000872341"
"0000414647"	"0000872342"
"0000414648"	"0000872343"
"0000414649"	"0000872344"
"0000414650"	"0000872345"
"0000414651"	"0000872346"
"0000414652"	"0000872347"
"0000414653"	"0000872348"
"0000414654"	"0000872349"
"0000414655"	"0000872350"
"0000414656"	"0000872351"
"0000414657"	"0000872352"
"0000414658"	"0000872353"
"0000414659"	"0000872354"
"0000414660"	"0000872355"
"0000414661"	"0000872356"
"0000414662"	"0000872357"
"0000414663"	"0000872358"
"0000414664"	"0000872359"
"0000414665"	"0000872360"
"0000414666"	"0000872361"
"0000414667"	"0000872362"
"0000414668"	"0000872363"
"0000414672"	"0000872373"
"0000414673"	"0000872374"
"0000414674"	"0000872375"
"0000414675"	"0000872376"
"0000414676"	"0000872377"
"0000414677"	"0000872378"
"0000414679"	"0000872380"
"0000414680"	"0000872381"
"0000414681"	"0000872382"
"0000414682"	"0000872383"
"0000414683"	"0000872384"
"0000414684"	"0000872385"
"0000414685"	"0000872386"
"0000414686"	"0000872387"
"0000414687"	"0000872388"
"0000414691"	"0000872392"
"0000414692"	"0000872393"
"0000414693"	"0000872394"
"0000414694"	"0000872395"
"0000414695"	"0000872396"
"0000414696"	"0000872397"
"0000414698"	"0000872400"
"0000414699"	"0000872401"
"0000414700"	"0000872402"
"0000414701"	"0000872403"
"0000414702"	"0000872404"
"0000414703"	"0000872405"
"0000414704"	"0000872406"
"0000414705"	"0000872407"
"0000414706"	"0000872408"
"0000414707"	"0000872409"
"0000414708"	"0000872410"
"0000414709"	"0000872411"
"0000414710"	"0000872412"
"0000414711"	"0000872413"
"0000414749"	"0000872461"
"0000414750"	"0000872462"
"0000414751"	"0000872463"
"0000414752"	"0000872464"
"0000414753"	"0000872465"
"0000414754"	"0000872466"
"0000414755"	"0000872467"
"0000421011"	"0000881429"
"0000421012"	"0000881430"
"0000422883"	"0000898137"
"0000422884"	"0000898138"
"0000448626"	"0000958112"
"0000448636"	"0000958122"
"0000448725"	"0000958211"
"0000448734"	"0000958220"
"0000448959"	"0000959163"
"0000452288"	"0000986832"
"0000452289"	"0000986835"
"0000452444"	"0000986427"
"0000452445"	"0000986428"
"0000452446"	"0000986429"
"0000452447"	"0000986430"
"0000452448"	"0000986431"