### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GJA8)
# 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}}"
"GJA8"	"gap junction protein, alpha 8, 50kDa"	"1"	"q21.1"	"unknown"	"NG_016242.1"	"UD_132118547277"	""	"https://www.LOVD.nl/GJA8"	""	"1"	"4281"	"2703"	"600897"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases</font>.\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/GJA8_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-03-01 00:00:00"	"00006"	"2020-11-20 17:38:10"	"00006"	"2025-11-25 19:19:10"


## 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}}"
"00008533"	"GJA8"	"gap junction protein, alpha 8, 50kDa"	"001"	"NM_005267.4"	""	"NP_005258.2"	""	""	""	"-53"	"1314"	"1302"	"147374946"	"147381396"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"00325"	"SPG"	"paraplegia, spastic (SPG)"	""	""	""	""	""	"00006"	"2014-02-15 22:29:17"	"00006"	"2016-11-28 13:01:43"
"01235"	"CTRCT1"	"cataract, type 1 (CTRCT1)"	"AD"	"116200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-20 17:38:33"
"02344"	"MCOPS9"	"microphthalmia syndromic, type 9 (MCOPS-9)"	"AR"	"601186"	""	""	""	"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"
"04267"	"-"	"glaucoma"	""	""	""	""	""	"00006"	"2015-05-14 15:50:28"	""	""
"05165"	"CCTRCT"	"cataract, congenital (CCTRCT)"	""	""	""	""	""	"00006"	"2016-05-15 20:37:47"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GJA8"	"01235"


## Individuals ## Do not remove or alter this header ##
## Count = 116
"{{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}}"
"00050448"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050487"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050570"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected father/child"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00060062"	""	""	""	"1"	""	"00227"	""	"1 familie, 3 patients"	"M"	""	"China"	""	"0"	""	""	"Han"	""
"00060073"	""	""	""	"1"	""	"00006"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00060074"	""	""	""	"1"	""	"00006"	""	""	""	""	"Pakistan"	""	"0"	""	""	""	""
"00060075"	""	""	""	"1"	""	"00006"	""	""	""	""	"Russian Federation"	""	"0"	""	""	""	""
"00060076"	""	""	""	"1"	""	"00006"	""	""	""	""	"Iran"	""	"0"	""	""	""	""
"00060077"	""	""	""	"1"	""	"00006"	""	""	""	""	"India"	""	"0"	""	""	""	""
"00060078"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00060079"	""	""	""	"1"	""	"00006"	""	""	""	""	"China"	""	"0"	""	""	""	""
"00060085"	""	""	""	"14"	""	"00006"	"{PMID:Hansen 2009:19182255}"	"4-generation family, 14 affected (8F, 6M)"	"F;M"	""	"Denmark"	""	"0"	""	""	""	"CC00145"
"00060092"	""	""	""	"2"	""	"00006"	"{PMID:Hansen 2009:19182255}"	"2-generation family, affected mother/son"	"F;M"	""	"Denmark"	""	"0"	""	""	""	"CC00110"
"00060094"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00060205"	""	""	""	"4"	""	"00245"	"{PMID:Prokudin 2014:24281366}"	"3-generation family, 4 affected (mother/3 sons)"	"F"	""	"Australia"	""	"0"	""	""	""	"Fam1PatII1"
"00060210"	""	""	""	"1"	""	"00227"	""	""	"M"	"no"	"China"	""	"0"	""	""	""	""
"00065032"	""	""	""	"1"	""	"00006"	"{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}"	"no family history"	"M"	"yes"	""	""	"0"	""	""	""	""
"00065034"	""	""	""	"3"	""	"00006"	"{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}"	"has affected mother and maternal grandfather"	"F"	"no"	""	""	"0"	""	""	""	""
"00102742"	""	""	""	"1"	""	"01954"	""	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	""
"00102748"	""	""	""	"1"	""	"01954"	""	""	"F"	"no"	"China"	""	"0"	""	""	""	""
"00363787"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"G462"
"00382149"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2019:30653986}"	""	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"288"
"00384435"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"14525"
"00385452"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"11012212"
"00385477"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"15018151"
"00392276"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2021:33494148}"	""	"F"	"no"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"34"
"00414370"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP37"
"00414385"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP52"
"00414406"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP73"
"00414422"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"F"	""	"China"	""	"0"	""	""	""	"WHP89"
"00434106"	""	""	""	"1"	""	"00006"	"{PMID:Hansen 2009:19182255}"	"family"	""	""	"Denmark"	""	"0"	""	""	""	"CCMC0103"
"00434116"	""	""	""	"1"	""	"00006"	"{PMID:Cao 2018:30143024}"	""	""	""	"Denmark"	""	"0"	""	""	""	"CC00159"
"00434120"	""	""	""	"1"	""	"00006"	"{PMID:Cao 2018:30143024}"	""	""	""	"Denmark"	""	"0"	""	""	""	"controls"
"00434129"	""	""	""	"2"	""	"00006"	"{PMID:Li 2019:31842807}"	"2-generation family, affected mother/son"	"M"	""	"China"	""	"0"	""	""	""	"Fam1PatII1"
"00434130"	""	""	""	"3"	""	"00006"	"{PMID:Li 2019:31842807}"	"2-generation family, affected mother/2 daughters"	"F"	""	"China"	""	"0"	""	""	""	"Fam2PatII1"
"00434167"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Spain"	""	"0"	""	""	""	"Fam12"
"00434168"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Spain"	""	"0"	""	""	""	"Fam13"
"00434169"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Spain"	""	"0"	""	""	""	"Fam14"
"00434170"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Spain"	""	"0"	""	""	""	"Fam15"
"00434171"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Spain"	""	"0"	""	""	""	"Fam16"
"00434186"	""	""	""	"6"	""	"00006"	"{PMID:Zhang 2018:30078984}"	"4-generation family, 6 affected (4F, 2M)"	"F"	""	"China"	""	"0"	""	""	""	"WCC2PatIII2"
"00434187"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2018:30078984}"	"2-generation family, 1 affected"	"M"	""	"China"	""	"0"	""	""	""	"WCC11PatII1"
"00434232"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Fam26334"
"00434287"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	""	""	""	""	"0"	""	""	""	"Fam26333"
"00441796"	""	""	""	"3"	""	"00006"	"{PMID:Amine 2023:37931120}"	"3-generation family, several affected (sister, father, paternal family members)"	"F"	""	"United States"	""	"0"	""	""	""	"Pat1"
"00441802"	""	""	""	"5"	""	"00006"	"{PMID:Javadiyan 2017:28839118}"	"4-generation family, 5 affected (3F, 2M)"	"F;M"	""	"Australia"	""	"0"	""	""	""	"CRCH20"
"00441803"	""	""	""	"2"	""	"00006"	"{PMID:Javadiyan 2017:28839118}"	"2-generation family, affected father/daughter"	"F;M"	""	"Australia"	""	"0"	""	""	""	"CSA125"
"00441804"	""	""	""	"3"	""	"00006"	"{PMID:Javadiyan 2017:28839118}"	"3-generation family, affected grandmother/mother/daughter"	"F"	""	"Australia"	""	"0"	""	""	""	"CSA162"
"00444113"	""	""	""	"9"	""	"00006"	"{PMID:Astiazaran 2018:30450742}"	"3-generation family, 9 affected (5F, 4M)"	"F"	""	"Mexico"	""	"0"	""	""	""	"Fam5PatIII2"
"00444114"	""	""	"00444113"	"1"	""	"00006"	"{PMID:Astiazaran 2018:30450742}"	"mother"	"F"	""	"Mexico"	""	"0"	""	""	""	"Fam5PatII2"
"00444869"	""	""	""	"2"	""	"00006"	"{PMID:Fan 2020:32883240}"	"2-generation family, affected father/sib"	""	""	"China"	""	"0"	""	""	""	"Fam9"
"00444885"	""	""	""	"2"	""	"00006"	"{PMID:Ma 2016:26694549}"	"2-generation family, affected bother/sister, mother sutural cataract"	"M"	""	"Australia"	""	"0"	""	""	""	"Fam1PatII1"
"00444886"	""	""	""	"1"	""	"00006"	"{PMID:Ma 2016:26694549}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Australia"	""	"0"	""	""	""	"Fam2PatII1"
"00444897"	""	""	""	"2"	""	"00006"	"{PMID:Ma 2016:26694549}"	"2-generation family, 1 affected"	"F"	"yes"	"Australia"	""	"0"	""	""	""	"Fam14PatII2"
"00444903"	""	""	""	"1"	""	"00006"	"{PMID:Ma 2016:26694549}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Australia"	""	"0"	""	""	""	"Fam20PatII2"
"00444928"	""	""	""	"1"	""	"00006"	"{PMID:Ma 2016:26694549}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"Australia"	""	"0"	""	""	""	"Fam45PatII1"
"00444958"	""	""	""	"6"	""	"00006"	"{PMID:Patel 2017:27878435}"	"family"	""	""	""	""	"0"	""	""	""	"11DG1761"
"00444988"	""	""	""	"1"	""	"00006"	"{PMID:Reis 2013:23508780}"	"family, 6 affected"	""	""	"United States"	""	"0"	""	""	"white"	"Pat2"
"00444989"	""	""	""	"1"	""	"00006"	"{PMID:Reis 2013:23508780}"	"family, 2 affected"	""	""	"United States"	""	"0"	""	""	"white"	"Pat3"
"00444997"	""	""	""	"1"	""	"00006"	"{PMID:Reis 2013:23508780}"	"family, 3 affected"	""	""	"United States"	""	"0"	""	""	"white"	"Pat11"
"00445044"	""	""	""	"1"	""	"00006"	"{PMID:Kessel 2021:34169787}"	"patient"	""	""	"Denmark"	""	"0"	""	""	""	"CC0000744"
"00445089"	""	""	""	"2"	""	"00006"	"{PMID:Reichsteiner 2021:34014271}"	"2-generation family, affected mother/daughter"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam9PatI2"
"00445090"	""	""	""	"1"	""	"00006"	"{PMID:Reichsteiner 2021:34014271}"	"daughter"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam9PatII1"
"00445091"	""	""	""	"1"	""	"00006"	"{PMID:Reichsteiner 2021:34014271}"	"2-generation family, 1 affected, unaffected non-carrier mother"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam10PatII1"
"00446381"	""	""	""	"1"	""	"00006"	"{PMID:Khidiyatova 2023:37367076}"	"patient"	""	""	"Russia"	""	"0"	""	""	""	"Fam5"
"00446382"	""	""	""	"1"	""	"00006"	"{PMID:Khidiyatova 2023:37367076}"	"patient"	""	""	"Russia"	""	"0"	""	""	""	"Fam5"
"00446383"	""	""	""	"1"	""	"00006"	"{PMID:Khidiyatova 2023:37367076}"	"patient"	""	""	"Russia"	""	"0"	""	""	"Bashkir"	"Fam6"
"00446384"	""	""	""	"1"	""	"00006"	"{PMID:Khidiyatova 2023:37367076}"	"patient"	""	""	"Russia"	""	"0"	""	""	""	"Fam7"
"00446385"	""	""	""	"1"	""	"00006"	"{PMID:Khidiyatova 2023:37367076}"	"patient"	""	""	"Russia"	""	"0"	""	""	""	"Fam8"
"00446411"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	""	"M"	""	"China"	""	"0"	""	""	""	"Fam1Pat1"
"00446435"	""	""	""	"2"	""	"00006"	"{PMID:Liu 2023:37337769}"	"2-generation family, affected father/daughter"	"F"	""	"China"	""	"0"	""	""	""	"Fam18Pat51"
"00446436"	""	""	"00446435"	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	"father"	"M"	""	"China"	""	"0"	""	""	""	"Fam18Pat53"
"00446455"	""	""	""	"3"	""	"00006"	"{PMID:Liu 2023:37337769}"	"family, 3 affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam47Pat127"
"00446456"	""	""	""	"2"	""	"00006"	"{PMID:Liu 2023:37337769}"	"2-generation family, affected father/daughter"	"F"	""	"China"	""	"0"	""	""	""	"Fam49Pat133"
"00446457"	""	""	"00446456"	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	"father"	"M"	""	"China"	""	"0"	""	""	""	"Fam49Pat134"
"00446465"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	""	"F"	""	"China"	""	"0"	""	""	""	"Fam59Pat163"
"00446517"	""	""	""	"4"	""	"00006"	"{PMID:Liu 2023:37337769}"	"3-generation family, 4 affected (F, 3M)"	"F"	""	"China"	""	"0"	""	""	""	"Fam119Pat320"
"00446518"	""	""	"00446517"	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	"grandson"	"M"	""	"China"	""	"0"	""	""	""	"Fam119Pat321"
"00446537"	""	""	""	"2"	""	"00006"	"{PMID:Liu 2023:37337769}"	"2-generation family, affected father/daughter"	"F"	""	"China"	""	"0"	""	""	""	"Fam137Pat365"
"00446538"	""	""	"00446537"	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	"father"	"M"	""	"China"	""	"0"	""	""	""	"Fam137Pat367"
"00446587"	""	""	""	"3"	""	"00006"	"{PMID:Senthil Kumar 2016:28530003}"	"3-generation family, 3 affected (3F), unaffected"	"F"	""	"India"	""	"0"	""	""	"India-S"	"family"
"00446603"	""	""	""	"4"	""	"00006"	"{PMID:Mackay 2014:25403472}"	"2-generation family, affected father/3daughters"	"F;M"	""	"United States"	""	"0"	""	""	"white"	"FamB"
"00446604"	""	""	""	"2"	""	"00006"	"{PMID:Mackay 2014:25403472}"	"2-generation family, affected father/daughter"	"F;M"	""	"United States"	""	"0"	""	""	"white"	"FamC"
"00468317"	""	""	""	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"patient, no family history"	"F"	""	"China"	""	"0"	""	""	""	"Fam26Pat7811"
"00468318"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam27Pat18206"
"00468319"	""	""	""	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"patient, no family history"	"F"	""	"China"	""	"0"	""	""	""	"Fam28Pat19713"
"00468320"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam29Pat9736"
"00468321"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam30Pat41082"
"00468322"	""	""	""	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"patient, no family history"	"M"	""	"China"	""	"0"	""	""	""	"Fam31Pat5782"
"00468323"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam32Pat22328"
"00468324"	""	""	""	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"patient, no family history"	"M"	""	"China"	""	"0"	""	""	""	"Fam33Pat27261"
"00468353"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam54Pat15993"
"00468354"	""	""	"00468353"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"relative"	"F"	""	"China"	""	"0"	""	""	""	"Fam54Pat17474"
"00468358"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam57Pat6204"
"00468359"	""	""	"00468358"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"relative"	"F"	""	"China"	""	"0"	""	""	""	"Fam57Pat6205"
"00468364"	""	""	"00468363"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"relative"	"M"	""	"China"	""	"0"	""	""	""	"Fam60Pat16016"
"00468365"	""	""	"00468363"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam60Pat16017"
"00468375"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam67Pat19984"
"00468376"	""	""	"00468375"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"relative"	"F"	""	"China"	""	"0"	""	""	""	"Fam67Pat19986"
"00468382"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam71Pat22910"
"00468383"	""	""	"00468382"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"relative"	"F"	""	"China"	""	"0"	""	""	""	"Fam71Pat22912"
"00468392"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam78Pat25151"
"00468393"	""	""	"00468392"	"1"	""	"00006"	"{PMID:Guo 2025:40449652}"	"relative"	"M"	""	"China"	""	"0"	""	""	""	"Fam78Pat25153"
"00468394"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam79Pat14525"
"00468420"	""	""	""	"2"	""	"00006"	"{PMID:Guo 2025:40449652}"	"family, several affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam88Pat6071"
"00468478"	""	""	""	"2"	""	"00006"	"{PMID:Wang 2024:38184101}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"Pat37"
"00468479"	""	""	""	"2"	""	"00006"	"{PMID:Wang 2024:38184101}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"Pat38"
"00468480"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2024:38184101}"	"patient, no family history"	"F"	""	"China"	""	"0"	""	""	""	"Pat39"
"00468481"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2024:38184101}"	"patient, no family history"	"M"	""	"China"	""	"0"	""	""	""	"Pat40"
"00468482"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2024:38184101}"	"patient, no family history"	"F"	""	"China"	""	"0"	""	""	""	"Pat41"
"00468483"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2024:38184101}"	"patient, no family history"	"M"	""	"China"	""	"0"	""	""	""	"Pat42"
"00469997"	""	""	""	"7"	""	"00006"	"{PMID:Lecca 2024:38840272}"	"4-generation family, 7 affected (3F, 4M)"	"F"	""	"Italy"	""	"0"	""	""	""	"FamBPat4"
"00469998"	""	""	"00469997"	"1"	""	"00006"	"{PMID:Lecca 2024:38840272}"	"father"	""	""	"Italy"	""	"0"	""	""	""	"FamBPat5"
"00470023"	""	""	""	"3"	""	"00006"	"{PMID:Lecca 2024:38840272}"	"4-generation family, 3 affected (2F, M)"	"F"	""	"Italy"	""	"0"	""	""	""	"FamAPat1"
"00470024"	""	""	"00470023"	"1"	""	"00006"	"{PMID:Lecca 2024:38840272}"	"brother"	"M"	""	"Italy"	""	"0"	""	""	""	"FamAPat2"
"00470025"	""	""	"00470023"	"1"	""	"00006"	"{PMID:Lecca 2024:38840272}"	"mother"	"F"	""	"Italy"	""	"0"	""	""	""	"FamAPat3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 116
"{{individualid}}"	"{{diseaseid}}"
"00050448"	"00198"
"00050487"	"00198"
"00050570"	"00198"
"00060062"	"00296"
"00060073"	"01235"
"00060074"	"01235"
"00060075"	"01235"
"00060076"	"00296"
"00060077"	"01235"
"00060078"	"01235"
"00060079"	"01235"
"00060085"	"00296"
"00060092"	"00296"
"00060094"	"00198"
"00060205"	"00296"
"00060210"	"00296"
"00065032"	"05165"
"00065034"	"05165"
"00102742"	"00296"
"00102748"	"00296"
"00363787"	"04267"
"00382149"	"02344"
"00384435"	"01235"
"00385452"	"04214"
"00385477"	"04214"
"00392276"	"04214"
"00414370"	"00198"
"00414385"	"00198"
"00414406"	"00198"
"00414422"	"00198"
"00434106"	"00296"
"00434116"	"00296"
"00434120"	"00000"
"00434129"	"00296"
"00434130"	"00296"
"00434167"	"00296"
"00434168"	"00296"
"00434169"	"00296"
"00434170"	"00296"
"00434171"	"00296"
"00434186"	"00296"
"00434187"	"00296"
"00434232"	"00198"
"00434287"	"00198"
"00441796"	"00296"
"00441802"	"00296"
"00441803"	"00296"
"00441804"	"00296"
"00444113"	"00296"
"00444114"	"00296"
"00444869"	"00296"
"00444885"	"00296"
"00444886"	"00296"
"00444897"	"00296"
"00444903"	"00296"
"00444928"	"00296"
"00444958"	"00296"
"00444988"	"00296"
"00444989"	"00296"
"00444997"	"00296"
"00445044"	"00296"
"00445089"	"00296"
"00445090"	"00296"
"00445091"	"00296"
"00446381"	"00296"
"00446382"	"00296"
"00446383"	"00296"
"00446384"	"00296"
"00446385"	"00296"
"00446411"	"00296"
"00446435"	"00296"
"00446436"	"00296"
"00446455"	"00296"
"00446456"	"00296"
"00446457"	"00296"
"00446465"	"00296"
"00446517"	"00296"
"00446518"	"00296"
"00446537"	"00296"
"00446538"	"00296"
"00446587"	"00296"
"00446603"	"00296"
"00446604"	"00296"
"00468317"	"00296"
"00468318"	"00296"
"00468319"	"00296"
"00468320"	"00296"
"00468321"	"00296"
"00468322"	"00296"
"00468323"	"00296"
"00468324"	"00296"
"00468353"	"00296"
"00468354"	"00296"
"00468358"	"00296"
"00468359"	"00296"
"00468364"	"00296"
"00468365"	"00296"
"00468375"	"00296"
"00468376"	"00296"
"00468382"	"00296"
"00468383"	"00296"
"00468392"	"00296"
"00468393"	"00296"
"00468394"	"00296"
"00468420"	"00296"
"00468478"	"00296"
"00468479"	"00296"
"00468480"	"00296"
"00468481"	"00296"
"00468482"	"00296"
"00468483"	"00296"
"00469997"	"00296"
"00469998"	"00296"
"00470023"	"00325"
"00470024"	"00325"
"00470025"	"00325"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 00325, 01235, 02344, 04214, 04267, 05165
## Count = 113
"{{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}}"
"0000037060"	"00198"	"00050448"	"00006"	"Isolated (sporadic)"	""	"abnormality of the eye, bilateral microphthalmos, microphthalmos, bilateral microphthalmos, congenital cataract, anterior segment dysgenesis, hypoplasia of the iris, persistent pupillary membrane"	""	""	""	""	""	""	""	""	""	""	""
"0000037099"	"00198"	"00050487"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, microcephaly, seizures"	""	""	""	""	""	""	""	""	""	""	""
"0000037182"	"00198"	"00050570"	"00006"	"Unknown"	""	"brachycephaly, gastroesophageal reflux, delayed speech and language development, global developmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000046552"	"00296"	"00060062"	"00227"	"Unknown"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000046563"	"01235"	"00060073"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046564"	"01235"	"00060074"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046565"	"01235"	"00060075"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046566"	"00296"	"00060076"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046567"	"01235"	"00060077"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046568"	"01235"	"00060078"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046569"	"01235"	"00060079"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046575"	"00296"	"00060085"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000046582"	"00296"	"00060092"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000046584"	"00198"	"00060094"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046695"	"00296"	"00060205"	"00245"	"Familial, autosomal dominant"	""	"see paper; ..., nuclear cataracts, microcornea"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000046700"	"00296"	"00060210"	"00227"	"Familial, autosomal dominant"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000051169"	"05165"	"00065032"	"00006"	"Familial, autosomal recessive"	""	"nuclear, lamellar cataract, posterior capsule opacity"	""	""	""	""	""	""	""	""	""	""	""
"0000051171"	"05165"	"00065034"	"00006"	"Familial, autosomal dominant"	""	"total cataract; amblyopia, convergent squint, all other measurements within normal range"	""	""	""	""	""	""	""	""	""	""	""
"0000081598"	"00296"	"00102742"	"01954"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081599"	"00296"	"00102748"	"01954"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000259134"	"04267"	"00363787"	"00000"	"Unknown"	"29y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary open‐angle glaucoma"	""
"0000275991"	"02344"	"00382149"	"00000"	"Familial, autosomal dominant"	""	"congenital cataract; MIM, 600897"	""	""	""	""	""	""	""	""	""	"MIM, 600897"	""
"0000278220"	"01235"	"00384435"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Congenital cataract"	""
"0000279247"	"04214"	"00385452"	"00000"	"Familial, autosomal dominant"	""	""	"<1y"	""	""	""	""	""	""	""	"bilateral paediatric cataract"	"congenital cataract"	""
"0000279272"	"04214"	"00385477"	"00000"	"Familial, autosomal dominant"	""	""	"<1y"	""	""	""	""	""	""	""	"bilateral paediatric cataract"	"congenital cataracts"	""
"0000285554"	"04214"	"00392276"	"00000"	"Familial, autosomal dominant"	"3y"	"congenital cataract"	""	"2m"	""	""	""	""	""	""	"Cataract 1, multiple types"	""	""
"0000306205"	"00198"	"00414370"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Cataract 1"	""	""
"0000306220"	"00198"	"00414385"	"00000"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	"Cataract 1"	""	""
"0000306241"	"00198"	"00414406"	"00000"	"Familial, autosomal dominant"	"26y"	""	""	""	""	""	""	""	""	""	"Cataract 1"	""	""
"0000306257"	"00198"	"00414422"	"00000"	"Familial, autosomal dominant"	"48y"	""	""	""	""	""	""	""	""	""	"Cataract 1"	""	""
"0000324483"	"00296"	"00434129"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., nuclear cataract, white opacities"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000324484"	"00296"	"00434130"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., nuclear/lamellar cataract, blue punctate opacities"	""	""	""	""	""	""	""	""	"CTRCT14"	"cataract"	""
"0000324525"	"00296"	"00434167"	"00006"	"Isolated (sporadic)"	""	"nuclear cataract; no microphthalmia; microcornea; no iris malformations"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324526"	"00296"	"00434168"	"00006"	"Familial, autosomal dominant"	""	"lamellar cataract; no microphthalmia; no microcornea; no iris malformations"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324527"	"00296"	"00434169"	"00006"	"Unknown"	""	"nuclear cataract; no microphthalmia; no microcornea; no iris malformations"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324528"	"00296"	"00434170"	"00006"	"Isolated (sporadic)"	""	"posterior polar cataract; no microphthalmia; microcornea; no iris malformations"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324529"	"00296"	"00434171"	"00006"	"Isolated (sporadic)"	""	"nuclear cataract; microphthalmia; no microcornea; no iris malformations"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324544"	"00296"	"00434186"	"00006"	"Familial, autosomal dominant"	"26y"	"nuclear opacity"	""	""	""	""	""	""	""	""	""	"congenital cataract"	""
"0000324545"	"00296"	"00434187"	"00006"	"Isolated (sporadic)"	"6m"	"nuclear opacity"	""	""	""	""	""	""	""	""	""	"congenital cataract"	""
"0000324590"	"00198"	"00434232"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CTRCT1"	"microphthalmia, anophthalmia, coloboma"	""
"0000324645"	"00198"	"00434287"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000331204"	"00296"	"00441796"	"00006"	"Familial, autosomal dominant"	"05y"	"see paper; ..., bilateral congenital cataracts"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000331210"	"00296"	"00441802"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"bilateral congenital nuclear"	""
"0000331211"	"00296"	"00441803"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"nuclear cataract, posterior pole cataract"	""
"0000331212"	"00296"	"00441804"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"pediatric cataract"	""
"0000333366"	"00296"	"00444113"	"00006"	"Familial, autosomal dominant"	""	"bilateral cataract"	"1d"	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000333367"	"00296"	"00444114"	"00006"	"Familial, autosomal dominant"	""	"bilateral cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334119"	"00296"	"00444869"	"00006"	"Familial, autosomal dominant"	""	"binocular, microphthalmia"	""	""	""	""	""	""	""	""	"CTRCT10"	"cataract"	""
"0000334135"	"00296"	"00444885"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., bilateral cataract, 30y-aphakic glaucoma, retinal detachment; sister less severely affected bilateral cataracts; mother sutural cataract"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000334136"	"00296"	"00444886"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., bilateral dense cataract with anterior polar component, aphakic glaucoma, nystagmus visual acuity R 6/30 L 6/60"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334147"	"00296"	"00444897"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., bilateral cataract, 17y-severe glaucoma, visual acuity R 6/15 L unobtainable; mother nuclear dot cataracts, early L posterior subcapsular cataract, HCD 10.5mm"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334153"	"00296"	"00444903"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., bilateral anterior cortical/nuclear cataract, 6m-visual acuity R 6/280 L 6/120, latent nystagmus"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334178"	"00296"	"00444928"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., bilateral cataract, bilateral microphthalmia/ sclerocornea"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334208"	"00296"	"00444958"	"00006"	"Familial, autosomal dominant"	""	"pediatric cataract; not syndromic"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334239"	"00296"	"00444988"	"00006"	"Familial, autosomal dominant"	""	"congenital cataract; microcornea, glaucoma"	""	""	""	""	""	""	""	""	"CTRCT17"	"cataract"	""
"0000334240"	"00296"	"00444989"	"00006"	"Familial, autosomal dominant"	""	"congenital cataract; glaucoma"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334248"	"00296"	"00444997"	"00006"	"Familial, autosomal dominant"	""	"congenital cataract; pupil defects, glaucoma"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334296"	"00296"	"00445044"	"00006"	"Familial, autosomal dominant"	""	"bilateral cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334342"	"00296"	"00445089"	"00006"	"Familial, autosomal dominant"	""	"cataract; non-syndromic"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334343"	"00296"	"00445090"	"00006"	"Familial, autosomal dominant"	""	"pulverulent cataract (restricted to nucleus); non-syndromic; no aphakic glaucoma"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000334344"	"00296"	"00445091"	"00006"	"Unknown"	""	"cataract; microcornea left eye ; non-syndromic; no aphakic glaucoma"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000335616"	"00296"	"00446381"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., punctate cataract"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000335617"	"00296"	"00446382"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., nuclear cataract"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000335618"	"00296"	"00446383"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., anterior polar cataract"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000335619"	"00296"	"00446384"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., zonular cataract, microphthalmos, microcornea"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000335620"	"00296"	"00446385"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., zonular cataract"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000335634"	"00296"	"00446411"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335657"	"00296"	"00446435"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335658"	"00296"	"00446436"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335675"	"00296"	"00446455"	"00006"	"Familial, autosomal recessive"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335676"	"00296"	"00446456"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335677"	"00296"	"00446457"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335685"	"00296"	"00446465"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335730"	"00296"	"00446517"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335731"	"00296"	"00446518"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335745"	"00296"	"00446537"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335746"	"00296"	"00446538"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital catarct"	""
"0000335788"	"00296"	"00446587"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., posterior cortical cataract left, mature cortical cataract right"	""	""	""	""	""	""	""	""	"CTRCT1"	"congenital cataract"	""
"0000335804"	"00296"	"00446603"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"catarct"	""
"0000335805"	"00296"	"00446604"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"catarct"	""
"0000353469"	"00296"	"00468317"	"00006"	"Familial, autosomal dominant"	"29.0y"	"see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 6.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353470"	"00296"	"00468318"	"00006"	"Familial, autosomal dominant"	"22.5y"	"see paper; ..., cataract; microcornea; nystagmus; high myopia; 7.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353471"	"00296"	"00468319"	"00006"	"Familial, autosomal dominant"	"22.1y"	"see paper; ..., cataract; microcornea; nystagmus; 0.3y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353472"	"00296"	"00468320"	"00006"	"Familial, autosomal dominant"	"12.0y"	"see paper; ..., nuclear cataract; microcornea; nystagmus; high myopia; 0.4y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353473"	"00296"	"00468321"	"00006"	"Familial, autosomal dominant"	"34.0y"	"see paper; ..., total cataract; microcornea; nystagmus; no surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353474"	"00296"	"00468322"	"00006"	"Familial, autosomal dominant"	"7.0y"	"see paper; ..., cataract; microcornea; microphthalmia; nystagmus; no surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353475"	"00296"	"00468323"	"00006"	"Familial, autosomal dominant"	"22.0y"	"see paper; ..., cataract; no surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353476"	"00296"	"00468324"	"00006"	"Familial, autosomal dominant"	"7.0y"	"see paper; ..., cataract; postoperative retinal detachment, glaucoma; microcornea; nystagmus; high myopia; 1y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353505"	"00296"	"00468353"	"00006"	"Familial, autosomal dominant"	"24.6y"	"see paper; ..., cataract; nystagmus; high myopia; 3.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353506"	"00296"	"00468354"	"00006"	"Familial, autosomal dominant"	"1.0y"	"see paper; ..., nuclear cataract; 1.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353510"	"00296"	"00468358"	"00006"	"Familial, autosomal dominant"	"6.7y"	"see paper; ..., cataract; microphthalmia; nystagmus; 1.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353511"	"00296"	"00468359"	"00006"	"Familial, autosomal dominant"	"48.0y"	"see paper; ..., cataract; microphthalmia; nystagmus; 1.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353516"	"00296"	"00468364"	"00006"	"Familial, autosomal dominant"	"0.3y"	"see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 1.2y-surgery"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000353517"	"00296"	"00468365"	"00006"	"Familial, autosomal dominant"	"28.0y"	"see paper; ..., cataract; microcornea; microphthalmia; nystagmus;"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353527"	"00296"	"00468375"	"00006"	"Familial, autosomal dominant"	"3.4y"	"see paper; ..., cataract; nystagmus; no surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353528"	"00296"	"00468376"	"00006"	"Familial, autosomal dominant"	"31.5y"	"see paper; ..., cataract; nystagmus; 26.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353534"	"00296"	"00468382"	"00006"	"Familial, autosomal dominant"	"0.5y"	"see paper; ..., cataract; nystagmus; no surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353535"	"00296"	"00468383"	"00006"	"Familial, autosomal dominant"	"30.0y"	"see paper; ..., nuclear cataract; nystagmus;"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353544"	"00296"	"00468392"	"00006"	"Familial, autosomal dominant"	"4.2y"	"see paper; ..., membranous cataract; microcornea; nystagmus; 4.5y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353545"	"00296"	"00468393"	"00006"	"Familial, autosomal dominant"	"44.3y"	"see paper; ..., total cataract; nystagmus; no surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353546"	"00296"	"00468394"	"00006"	"Familial, autosomal dominant"	"6.8y"	"see paper; ..., cataract; nystagmus; high myopia; 0.3y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353572"	"00296"	"00468420"	"00006"	"Familial, autosomal dominant"	"30.7y"	"see paper; ..., nuclear cataract; microcornea; microphthalmia; 31.0y-surgery"	""	""	""	""	""	""	""	""	"CTRCT1"	"cataract"	""
"0000353630"	"00296"	"00468478"	"00006"	"Familial, autosomal dominant"	""	"pocket-like cataract; symmetrical opacities"	"0y"	""	""	""	""	""	""	""	"CTRCT1"	"bilateral cataract"	""
"0000353631"	"00296"	"00468479"	"00006"	"Familial, autosomal dominant"	""	"pocket-like cataract; symmetrical opacities"	"1y"	""	""	""	""	""	""	""	""	"bilateral cataract"	""
"0000353632"	"00296"	"00468480"	"00006"	"Familial, autosomal dominant"	""	"pocket-like cataract; symmetrical opacities"	"0y"	""	""	""	""	""	""	""	"CTRCT1"	"bilateral cataract"	""
"0000353633"	"00296"	"00468481"	"00006"	"Familial, autosomal dominant"	""	"nuclear cataract; symmetrical opacities"	"0y"	""	""	""	""	""	""	""	""	"bilateral cataract"	""
"0000353634"	"00296"	"00468482"	"00006"	"Familial, autosomal dominant"	""	"pocket-like cataract; symmetrical opacities"	"1y"	""	""	""	""	""	""	""	""	"bilateral cataract"	""
"0000353635"	"00296"	"00468483"	"00006"	"Familial, autosomal dominant"	""	"pocket-like cataract; symmetrical opacities"	"0y"	""	""	""	""	""	""	""	"CTRCT1"	"bilateral cataract"	""
"0000355142"	"00296"	"00469997"	"00006"	"Familial, autosomal dominant"	"10y9m"	"see paper; ..., non-syndromic, bilateral zonular cataract"	"5y"	""	""	""	""	""	""	""	"CTRCT1"	"bilateral zonular cataract"	""
"0000355143"	"00296"	"00469998"	"00006"	"Familial, autosomal dominant"	"43y"	"see paper; ..., non-syndromic, bilateral zonular cataract"	"1y"	""	""	""	""	""	""	""	"CTRCT1"	"bilateral zonular cataract"	""
"0000355168"	"00325"	"00470023"	"00006"	"Familial, autosomal dominant"	"13y5m"	"see paper; ..., non-syndromic, bilateral central cataract"	"1d"	""	""	""	""	""	""	""	""	"bilateral central cataract"	""
"0000355169"	"00325"	"00470024"	"00006"	"Familial, autosomal dominant"	"10y7m"	"see paper; ..., non-syndromic, bilateral central cataract"	"1d"	""	""	""	""	""	""	""	""	"bilateral central cataract"	""
"0000355170"	"00325"	"00470025"	"00006"	"Familial, autosomal dominant"	"45y11m"	"see paper; ..., non-syndromic, bilateral central cataract"	"5y"	""	""	""	""	""	""	""	""	"bilateral central cataract"	""


## Screenings ## Do not remove or alter this header ##
## Count = 116
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050393"	"00050448"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050432"	"00050487"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050515"	"00050570"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000060049"	"00060062"	"1"	"00227"	"00227"	"2011-11-16 03:07:25"	""	""	"SEQ"	"DNA"	""	""
"0000060060"	"00060073"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060061"	"00060074"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060062"	"00060075"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060063"	"00060076"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060064"	"00060077"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060065"	"00060078"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060066"	"00060079"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060072"	"00060085"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060079"	"00060092"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060081"	"00060094"	"1"	"00006"	"00006"	"2011-11-17 23:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000060192"	"00060205"	"1"	"00245"	"00245"	"2013-09-04 09:00:41"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000060197"	"00060210"	"1"	"00227"	"00227"	"2015-01-14 02:22:30"	""	""	"SEQ"	"DNA"	""	""
"0000065174"	"00065032"	"1"	"00006"	"00006"	"2016-05-15 22:17:13"	"00006"	"2016-05-15 22:46:06"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000065176"	"00065034"	"1"	"00006"	"00006"	"2016-05-15 22:17:13"	"00006"	"2016-05-15 22:48:41"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000103193"	"00102742"	"1"	"01954"	"01954"	"2017-04-03 10:34:10"	""	""	"SEQ"	"DNA"	""	""
"0000103583"	"00102748"	"1"	"01954"	"01954"	"2017-04-05 00:52:28"	""	""	"SEQ"	"DNA"	""	""
"0000365015"	"00363787"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000383365"	"00382149"	"1"	"00000"	"03840"	"2021-09-07 10:12:12"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000385660"	"00384435"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386681"	"00385452"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"144 genes panel tested"
"0000386706"	"00385477"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000393518"	"00392276"	"1"	"00000"	"03840"	"2021-11-22 09:44:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000415650"	"00414370"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000415665"	"00414385"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000415686"	"00414406"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000415702"	"00414422"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000435573"	"00434106"	"1"	"00006"	"00006"	"2023-03-20 09:36:10"	""	""	"SEQ"	"DNA"	""	""
"0000435583"	"00434116"	"1"	"00006"	"00006"	"2023-03-20 13:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000435587"	"00434120"	"1"	"00006"	"00006"	"2023-03-20 13:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000435596"	"00434129"	"1"	"00006"	"00006"	"2023-03-20 14:55:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435597"	"00434130"	"1"	"00006"	"00006"	"2023-03-20 14:55:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435635"	"00434167"	"1"	"00006"	"00006"	"2023-03-21 17:22:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435636"	"00434168"	"1"	"00006"	"00006"	"2023-03-21 17:22:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435637"	"00434169"	"1"	"00006"	"00006"	"2023-03-21 17:22:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435638"	"00434170"	"1"	"00006"	"00006"	"2023-03-21 17:22:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435639"	"00434171"	"1"	"00006"	"00006"	"2023-03-21 17:22:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435654"	"00434186"	"1"	"00006"	"00006"	"2023-03-21 18:38:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435655"	"00434187"	"1"	"00006"	"00006"	"2023-03-21 18:38:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435700"	"00434232"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000435755"	"00434287"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000443282"	"00441796"	"1"	"00006"	"00006"	"2023-11-12 20:32:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel cataract"
"0000443288"	"00441802"	"1"	"00006"	"00006"	"2023-11-13 11:55:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000443289"	"00441803"	"1"	"00006"	"00006"	"2023-11-13 11:55:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000443290"	"00441804"	"1"	"00006"	"00006"	"2023-11-13 11:55:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445610"	"00444113"	"1"	"00006"	"00006"	"2023-12-18 16:39:30"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000445611"	"00444114"	"1"	"00006"	"00006"	"2023-12-18 16:39:30"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000446438"	"00444869"	"1"	"00006"	"00006"	"2023-12-28 14:50:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000446454"	"00444885"	"1"	"00006"	"00006"	"2023-12-28 19:27:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000446455"	"00444886"	"1"	"00006"	"00006"	"2023-12-28 19:27:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000446466"	"00444897"	"1"	"00006"	"00006"	"2023-12-28 19:27:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000446472"	"00444903"	"1"	"00006"	"00006"	"2023-12-28 19:27:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000446497"	"00444928"	"1"	"00006"	"00006"	"2023-12-28 19:27:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000446527"	"00444958"	"1"	"00006"	"00006"	"2023-12-29 13:59:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000446557"	"00444988"	"1"	"00006"	"00006"	"2023-12-29 15:44:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446558"	"00444989"	"1"	"00006"	"00006"	"2023-12-29 15:44:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446566"	"00444997"	"1"	"00006"	"00006"	"2023-12-29 15:44:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446614"	"00445044"	"1"	"00006"	"00006"	"2024-01-02 15:26:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000446659"	"00445089"	"1"	"00006"	"00006"	"2024-01-02 18:58:09"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446660"	"00445090"	"1"	"00006"	"00006"	"2024-01-02 18:58:09"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446661"	"00445091"	"1"	"00006"	"00006"	"2024-01-02 18:58:09"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000447955"	"00446381"	"1"	"00006"	"00006"	"2024-01-15 19:29:08"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000447956"	"00446382"	"1"	"00006"	"00006"	"2024-01-15 19:29:08"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000447957"	"00446383"	"1"	"00006"	"00006"	"2024-01-15 19:29:08"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000447958"	"00446384"	"1"	"00006"	"00006"	"2024-01-15 19:29:08"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000447959"	"00446385"	"1"	"00006"	"00006"	"2024-01-15 19:29:08"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000447984"	"00446411"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448008"	"00446435"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448009"	"00446436"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448028"	"00446455"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448029"	"00446456"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448030"	"00446457"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448038"	"00446465"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448090"	"00446517"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448091"	"00446518"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448110"	"00446537"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448111"	"00446538"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448160"	"00446587"	"1"	"00006"	"00006"	"2024-01-18 15:39:31"	""	""	"SEQ"	"DNA"	""	"8-gene panel"
"0000448176"	"00446603"	"1"	"00006"	"00006"	"2024-01-18 21:20:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000448177"	"00446604"	"1"	"00006"	"00006"	"2024-01-18 21:20:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000469983"	"00468317"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469984"	"00468318"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469985"	"00468319"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469986"	"00468320"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469987"	"00468321"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469988"	"00468322"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469989"	"00468323"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000469990"	"00468324"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470019"	"00468353"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470020"	"00468354"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470024"	"00468358"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470025"	"00468359"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470030"	"00468364"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470031"	"00468365"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470041"	"00468375"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470042"	"00468376"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470048"	"00468382"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470049"	"00468383"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470058"	"00468392"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470059"	"00468393"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470060"	"00468394"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470086"	"00468420"	"1"	"00006"	"00006"	"2025-11-08 17:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470145"	"00468478"	"1"	"00006"	"00006"	"2025-11-09 20:53:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470146"	"00468479"	"1"	"00006"	"00006"	"2025-11-09 20:53:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470147"	"00468480"	"1"	"00006"	"00006"	"2025-11-09 20:53:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470148"	"00468481"	"1"	"00006"	"00006"	"2025-11-09 20:53:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470149"	"00468482"	"1"	"00006"	"00006"	"2025-11-09 20:53:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470150"	"00468483"	"1"	"00006"	"00006"	"2025-11-09 20:53:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471665"	"00469997"	"1"	"00006"	"00006"	"2025-11-25 19:19:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471666"	"00469998"	"1"	"00006"	"00006"	"2025-11-25 19:19:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471691"	"00470023"	"1"	"00006"	"00006"	"2025-11-25 19:19:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471692"	"00470024"	"1"	"00006"	"00006"	"2025-11-25 19:19:02"	""	""	"SEQ"	"DNA"	""	""
"0000471693"	"00470025"	"1"	"00006"	"00006"	"2025-11-25 19:19:02"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 33
"{{screeningid}}"	"{{geneid}}"
"0000050393"	"GJA8"
"0000050432"	"CAMTA1"
"0000060049"	"GJA8"
"0000060060"	"GJA8"
"0000060061"	"GJA8"
"0000060062"	"GJA8"
"0000060063"	"GJA8"
"0000060064"	"GJA8"
"0000060065"	"GJA8"
"0000060066"	"GJA8"
"0000060072"	"GJA8"
"0000060079"	"GJA8"
"0000060081"	"GJA8"
"0000060192"	"GJA8"
"0000060197"	"GJA8"
"0000065174"	"GJA8"
"0000065176"	"GJA8"
"0000103193"	"GJA8"
"0000103583"	"GJA8"
"0000365015"	"GJA8"
"0000383365"	"GJA8"
"0000385660"	"GJA8"
"0000386681"	"GJA8"
"0000386706"	"GJA8"
"0000393518"	"GJA8"
"0000415650"	"GJA8"
"0000415665"	"GJA8"
"0000415686"	"GJA8"
"0000415702"	"GJA8"
"0000435573"	"GJA8"
"0000435583"	"GJA8"
"0000435587"	"GJA8"
"0000448160"	"GJA8"


## 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 = 155
"{{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}}"
"0000079373"	"0"	"90"	"1"	"147380372"	"147380372"	"subst"	"0"	"00006"	"GJA8_000026"	"g.147380372T>G"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908245T>G"	""	"pathogenic"	""
"0000079495"	"11"	"90"	"1"	"145752381"	"148936712"	"del"	"0"	"00006"	"ACP6_000003"	"g.145752381_148936712del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000079664"	"11"	"90"	"1"	"145765433"	"148250973"	"dup"	"0"	"00006"	"ACP6_000002"	"g.145765433_148250973dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"increased gene dosage"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000090838"	"11"	"90"	"1"	"147380227"	"147380227"	"subst"	"0"	"00227"	"GJA8_000001"	"g.147380227C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908100C>G"	""	"pathogenic"	""
"0000090849"	"1"	"90"	"1"	"147380344"	"147380344"	"subst"	"0"	"00006"	"GJA8_000019"	"g.147380344C>T"	""	"{PMID:Shiels 1998:09497259}, {OMIM600897:0001}"	""	""	"LOVD2: GJ8_00002"	"Germline"	""	""	"0"	""	""	"g.147908217C>T"	""	"pathogenic"	""
"0000090850"	"1"	"90"	"1"	"147380224"	"147380224"	"subst"	"0"	"00006"	"GJA8_000020"	"g.147380224G>A"	""	"{PMID:Berry 1999:10480374}, {OMIM600897:0002}"	""	""	"LOVD2: GJ8_00003"	"Germline"	""	""	"0"	""	""	"g.147908097G>A"	""	"pathogenic"	""
"0000090851"	"1"	"90"	"1"	"147380823"	"147380823"	"subst"	"0.0035618"	"00006"	"GJA8_000021"	"g.147380823T>G"	""	"{PMID:Polyakov 2001:11846744}, {OMIM600897:0003}"	""	""	"LOVD2: GJ8_00004"	"Germline"	""	""	"0"	""	""	"g.147908696T>G"	""	"pathogenic"	""
"0000090852"	"1"	"90"	"1"	"147380150"	"147380150"	"subst"	"0"	"00006"	"GJA8_000022"	"g.147380150G>C"	""	"{PMID:Willoughby 2003:14627691}, {OMIM600897:0004}"	""	""	"LOVD2: GJ8_00005"	"Germline"	""	""	"0"	""	""	"g.147908023G>C"	""	"pathogenic"	""
"0000090853"	"1"	"90"	"1"	"147380213"	"147380213"	"subst"	"0"	"00006"	"GJA8_000023"	"g.147380213T>A"	""	"{PMID:Devi 2006:16604058}, {OMIM600897:0005}"	""	""	"LOVD2: GJ8_00006"	"Germline"	""	""	"0"	""	""	"g.147908086T>A"	""	"pathogenic"	""
"0000090854"	"1"	"90"	"1"	"147380675"	"147380675"	"subst"	"0"	"00006"	"GJA8_000024"	"g.147380675G>A"	""	"{PMID:Devi 2006:16604058}, {OMIM600897:0006}"	""	""	"LOVD2: GJ8_00007"	"Germline"	""	""	"0"	""	""	"g.147908548G>A"	""	"pathogenic"	""
"0000090855"	"1"	"90"	"1"	"147380221"	"147380221"	"subst"	"0"	"00006"	"GJA8_000025"	"g.147380221G>A"	""	"{PMID:He 2011:21174522}, {OMIM600897:0007}"	""	""	"LOVD2: GJ8_00008"	"Germline"	""	""	"0"	""	""	"g.147908094G>A"	""	"pathogenic"	""
"0000090861"	"1"	"90"	"1"	"147380300"	"147380300"	"subst"	"0"	"00006"	"GJA8_000007"	"g.147380300C>T"	""	"{PMID:Hansen 2009:19182255}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908173C>T"	""	"pathogenic"	""
"0000090868"	"1"	"90"	"1"	"147380858"	"147380858"	"subst"	"0"	"00006"	"GJA8_000014"	"g.147380858C>A"	""	"{PMID:Hansen 2009:19182255}"	""	"836C>A"	""	"Germline"	""	""	"0"	""	""	"g.147908731C>A"	""	"pathogenic (dominant)"	""
"0000090870"	"1"	"50"	"1"	"147380909"	"147380909"	"subst"	"0"	"00006"	"GJA8_000015"	"g.147380909C>T"	""	""	""	""	""	"Germline"	""	"rs45619342"	"0"	""	""	"g.147908782C>T"	""	"VUS"	""
"0000091164"	"0"	"90"	"1"	"147380675"	"147380675"	"subst"	"0"	"00245"	"GJA8_000024"	"g.147380675G>A"	""	"{PMID:Prokudin 2014:24281366}"	""	""	"de novo in mother"	"De novo"	"yes"	""	"0"	""	""	"g.147908548G>A"	""	"pathogenic (dominant)"	""
"0000091171"	"1"	"90"	"1"	"147380651"	"147380651"	"subst"	"0"	"00227"	"GJA8_000018"	"g.147380651A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908524A>G"	""	"pathogenic"	""
"0000096830"	"3"	"90"	"1"	"147381355"	"147381355"	"subst"	"2.05738E-5"	"00006"	"GJA8_000027"	"g.147381355C>T"	""	"{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147909228C>T"	""	"pathogenic"	""
"0000096832"	"1"	"70"	"1"	"147380375"	"147380375"	"subst"	"0"	"00006"	"GJA8_000028"	"g.147380375A>G"	""	"{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908248A>G"	""	"likely pathogenic"	""
"0000166308"	"11"	"70"	"1"	"147380996"	"147380996"	"subst"	"0"	"01954"	"GJA8_000029"	"g.147380996G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908869G>A"	""	"likely pathogenic"	""
"0000167016"	"11"	"70"	"1"	"147380091"	"147380091"	"subst"	"0"	"01954"	"GJA8_000030"	"g.147380091C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147907964C>G"	""	"likely pathogenic"	""
"0000254785"	"0"	"30"	"1"	"147380740"	"147380740"	"subst"	"0.00228616"	"01943"	"GJA8_000032"	"g.147380740A>G"	""	""	""	"GJA8(NM_005267.4):c.658A>G (p.N220D, p.(Asn220Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.147908613A>G"	""	"likely benign"	""
"0000288346"	"0"	"30"	"1"	"147380467"	"147380467"	"subst"	"0.00083265"	"01943"	"GJA8_000031"	"g.147380467G>A"	""	""	""	"GJA8(NM_005267.4):c.385G>A (p.V129I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.147908340G>A"	""	"likely benign"	""
"0000288347"	"0"	"30"	"1"	"147380823"	"147380823"	"subst"	"0.0035618"	"01943"	"GJA8_000021"	"g.147380823T>G"	""	""	""	"GJA8(NM_005267.4):c.741T>G (p.I247M, p.(Ile247Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.147908696T>G"	""	"likely benign"	""
"0000348099"	"0"	"30"	"1"	"147380332"	"147380332"	"subst"	"5.27897E-5"	"02327"	"GJA8_000034"	"g.147380332T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.147908205T>A"	""	"likely benign"	""
"0000349568"	"0"	"50"	"1"	"147380249"	"147380249"	"subst"	"0"	"02327"	"GJA8_000033"	"g.147380249C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.147908122C>T"	""	"VUS"	""
"0000503037"	"0"	"30"	"1"	"147380199"	"147380199"	"subst"	"1.2182E-5"	"01943"	"GJA8_000037"	"g.147380199G>A"	""	""	""	"GJA8(NM_005267.4):c.117G>A (p.T39=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908072G>A"	""	"likely benign"	""
"0000503038"	"0"	"70"	"1"	"147380222"	"147380222"	"subst"	"0"	"02327"	"GJA8_000038"	"g.147380222A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908095A>G"	""	"likely pathogenic"	""
"0000503039"	"0"	"30"	"1"	"147380415"	"147380415"	"subst"	"4.46947E-5"	"01943"	"GJA8_000039"	"g.147380415G>A"	""	""	""	"GJA8(NM_005267.4):c.333G>A (p.A111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908288G>A"	""	"likely benign"	""
"0000503040"	"0"	"30"	"1"	"147380559"	"147380559"	"subst"	"4.8742E-5"	"01943"	"GJA8_000040"	"g.147380559C>T"	""	""	""	"GJA8(NM_005267.4):c.477C>T (p.T159=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908432C>T"	""	"likely benign"	""
"0000503042"	"0"	"30"	"1"	"147380740"	"147380740"	"subst"	"0.00228616"	"01804"	"GJA8_000032"	"g.147380740A>G"	""	""	""	"GJA8(NM_005267.4):c.658A>G (p.N220D, p.(Asn220Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908613A>G"	""	"likely benign"	""
"0000503043"	"0"	"30"	"1"	"147380823"	"147380823"	"subst"	"0.0035618"	"01804"	"GJA8_000021"	"g.147380823T>G"	""	""	""	"GJA8(NM_005267.4):c.741T>G (p.I247M, p.(Ile247Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908696T>G"	""	"likely benign"	""
"0000503044"	"0"	"30"	"1"	"147381243"	"147381243"	"subst"	"0.00010983"	"01804"	"GJA8_000042"	"g.147381243G>T"	""	""	""	"GJA8(NM_005267.4):c.1161G>T (p.(Gln387His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147909116G>T"	""	"likely benign"	""
"0000503045"	"0"	"30"	"1"	"147381244"	"147381244"	"subst"	"0.000109818"	"01804"	"GJA8_000043"	"g.147381244T>G"	""	""	""	"GJA8(NM_005267.4):c.1162T>G (p.(Ser388Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147909117T>G"	""	"likely benign"	""
"0000653651"	"0"	"30"	"1"	"147380133"	"147380133"	"subst"	"1.62443E-5"	"01943"	"GJA8_000044"	"g.147380133C>T"	""	""	""	"GJA8(NM_005267.4):c.51C>T (p.H17=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908006C>T"	""	"likely benign"	""
"0000653652"	"0"	"50"	"1"	"147380635"	"147380635"	"subst"	"1.62434E-5"	"01943"	"GJA8_000041"	"g.147380635C>T"	""	""	""	"GJA8(NM_005267.4):c.553C>T (p.R185W), GJA8(NM_005267.5):c.553C>T (p.R185W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.147908508C>T"	""	"VUS"	""
"0000675459"	"0"	"50"	"1"	"147380227"	"147380227"	"subst"	"0"	"02327"	"GJA8_000001"	"g.147380227C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675460"	"0"	"50"	"1"	"147380809"	"147380809"	"subst"	"0"	"02327"	"GJA8_000045"	"g.147380809C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675461"	"0"	"50"	"1"	"147381187"	"147381187"	"subst"	"1.32288E-5"	"01943"	"GJA8_000046"	"g.147381187G>T"	""	""	""	"GJA8(NM_005267.4):c.1105G>T (p.G369W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687860"	"0"	"30"	"1"	"147380184"	"147380184"	"subst"	"1.62426E-5"	"01943"	"GJA8_000047"	"g.147380184C>T"	""	""	""	"GJA8(NM_005267.4):c.102C>T (p.I34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000687861"	"0"	"90"	"1"	"147380309"	"147380309"	"subst"	"0"	"02327"	"GJA8_000048"	"g.147380309G>A"	""	""	""	"GJA8(NM_005267.4):c.227G>A (p.(Arg76His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000716777"	"0"	"50"	"1"	"147380101"	"147380112"	"del"	"0"	"02329"	"GJA8_000035"	"g.147380101_147380112del"	""	""	""	"GJA8(NM_005267.5):c.19_30delCTGGGGAACATC (p.G8_L11del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716778"	"0"	"50"	"1"	"147380104"	"147380104"	"subst"	"2.43714E-5"	"02329"	"GJA8_000036"	"g.147380104G>A"	""	""	""	"GJA8(NM_005267.5):c.22G>A (p.G8R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716779"	"0"	"50"	"1"	"147380635"	"147380635"	"subst"	"1.62434E-5"	"02329"	"GJA8_000041"	"g.147380635C>T"	""	""	""	"GJA8(NM_005267.4):c.553C>T (p.R185W), GJA8(NM_005267.5):c.553C>T (p.R185W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716780"	"0"	"30"	"1"	"147381177"	"147381177"	"subst"	"2.26085E-5"	"01943"	"GJA8_000049"	"g.147381177C>T"	""	""	""	"GJA8(NM_005267.4):c.1095C>T (p.A365=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716781"	"0"	"30"	"1"	"147381211"	"147381211"	"subst"	"1.25375E-5"	"01943"	"GJA8_000050"	"g.147381211G>A"	""	""	""	"GJA8(NM_005267.4):c.1129G>A (p.V377M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000765965"	"0"	"70"	"1"	"147380651"	"147380651"	"subst"	"0"	"00000"	"GJA8_000018"	"g.147380651A>G"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908524A>G"	""	"likely pathogenic"	""
"0000797426"	"0"	"70"	"1"	"147380159"	"147380159"	"subst"	"0"	"00000"	"GJA8_000053"	"g.147380159T>C"	""	"{PMID:Patel 2019:30653986}"	""	"c.77T-->C; p.Leu26Pro"	"no Sanger sequencing; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.147908032T>C"	""	"likely pathogenic"	""
"0000812761"	"0"	"70"	"1"	"147380749"	"147380749"	"subst"	"0"	"00000"	"GJA8_000054"	"g.147380749G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.667G>A, p.(Glu223Lys)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.147908622G>A"	""	"likely pathogenic"	""
"0000814361"	"0"	"50"	"1"	"147380375"	"147380375"	"subst"	"0"	"00000"	"GJA8_000028"	"g.147380375A>G"	""	"{PMID:Lenassi 2020:31848469}"	""	"GJA8 c.293A>G p.(His98Arg) het"	"error in annotation, c.997C>T causes p.(Leu333Phe) and not p.(Leu333Trp) in all transcripts; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.147908248A>G"	""	"VUS"	"ACMG"
"0000814386"	"0"	"50"	"1"	"147380345"	"147380345"	"subst"	"0"	"00000"	"GJA8_000055"	"g.147380345C>T"	""	"{PMID:Lenassi 2020:31848469}"	""	"GJA8 c.263C>T p.(Pro88Leu) het"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.147908218C>T"	""	"VUS"	"ACMG"
"0000824280"	"0"	"90"	"1"	"147380216"	"147380216"	"subst"	"0"	"00000"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Bell 2021:33494148}"	""	"GJA8 c.134G>T, p.(Gln155Ter)"	"heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.147908089G>T"	""	"pathogenic"	""
"0000856952"	"0"	"90"	"1"	"147380309"	"147380309"	"subst"	"0"	"01804"	"GJA8_000048"	"g.147380309G>A"	""	""	""	"GJA8(NM_005267.4):c.227G>A (p.(Arg76His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000856953"	"0"	"50"	"1"	"147381382"	"147381382"	"subst"	"0"	"02327"	"GJA8_000057"	"g.147381382T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000873493"	"0"	"70"	"1"	"147380236"	"147380236"	"subst"	"0"	"00000"	"GJA8_000058"	"g.147380236T>C"	"137"	"{PMID:Sun 2018:30076350}"	""	"GJA8(NM_005267.4):c.154T>C(p.F52L)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.147908109T>C"	""	"likely pathogenic"	""
"0000873511"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00000"	"GJA8_000009"	"g.147380216G>C"	"152"	"{PMID:Sun 2018:30076350}"	""	"GJA8(NM_005267.4):c.134G>C(p.W45S)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.147908089G>C"	""	"likely pathogenic"	""
"0000873543"	"0"	"70"	"1"	"147380245"	"147380245"	"subst"	"0"	"00000"	"GJA8_000059"	"g.147380245A>G"	"173"	"{PMID:Sun 2018:30076350}"	""	"GJA8(NM_005267.4):c.163A>G(p.N55D)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.147908118A>G"	""	"likely pathogenic"	""
"0000873563"	"0"	"70"	"1"	"147380855"	"147380855"	"subst"	"0"	"00000"	"GJA8_000013"	"g.147380855C>T"	"189"	"{PMID:Sun 2018:30076350}"	""	"GJA8(NM_005267.4):c.773C>T(p.S258F)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.147908728C>T"	""	"likely pathogenic"	""
"0000882755"	"0"	"50"	"1"	"147380678"	"147380678"	"subst"	"0"	"02327"	"GJA8_000060"	"g.147380678C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000921593"	"1"	"90"	"1"	"147380648"	"147380648"	"subst"	"0"	"00006"	"GJA8_000011"	"g.147380648C>T"	""	"{PMID:Hansen 2009:19182255}"	""	"565C>T (Pro189Leu)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000921605"	"0"	"10"	"1"	"147380740"	"147380740"	"subst"	"0.00228616"	"00006"	"GJA8_000032"	"g.147380740A>G"	"1/38 chromosomes cases CTRCT"	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908613A>G"	""	"benign"	""
"0000921609"	"0"	"10"	"1"	"147380740"	"147380740"	"subst"	"0.00228616"	"00006"	"GJA8_000032"	"g.147380740A>G"	"1/340 control chromosomes"	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908613A>G"	""	"benign"	""
"0000921619"	"0"	"70"	"1"	"147380236"	"147380236"	"subst"	"0"	"00006"	"GJA8_000058"	"g.147380236T>C"	""	"{PMID:Li 2019:31842807}"	""	""	"ACMG PM1 PM2 PP3 PP4"	"Germline"	""	""	"0"	""	""	"g.147908109T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000921647"	"0"	"30"	"1"	"147380886"	"147380886"	"subst"	"0.0403897"	"00006"	"GJA8_000066"	"g.147380886C>T"	""	"{PMID:Li 2019:31842807}"	""	""	""	"Germline"	""	"rs3766503"	"0"	""	""	"g.147908759C>T"	""	"likely benign"	""
"0000921796"	"0"	"70"	"1"	"147380308"	"147380308"	"subst"	"0"	"00006"	"GJA8_000063"	"g.147380308C>G"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908181C>G"	""	"likely pathogenic (dominant)"	""
"0000921797"	"21"	"70"	"1"	"147380146"	"147380146"	"subst"	"0"	"00006"	"GJA8_000061"	"g.147380146G>A"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908019G>A"	""	"likely pathogenic (dominant)"	""
"0000921798"	"0"	"70"	"1"	"147380647"	"147380647"	"subst"	"0"	"00006"	"GJA8_000065"	"g.147380647C>G"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.147908520C>G"	""	"likely pathogenic (dominant)"	""
"0000921799"	"0"	"70"	"1"	"147380308"	"147380308"	"subst"	"0"	"00006"	"GJA8_000064"	"g.147380308C>T"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908181C>T"	""	"likely pathogenic (dominant)"	""
"0000921800"	"0"	"90"	"1"	"147380674"	"147380674"	"subst"	"0"	"00006"	"GJA8_000012"	"g.147380674C>T"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908547C>T"	""	"pathogenic (dominant)"	""
"0000921816"	"0"	"90"	"1"	"147380212"	"147380212"	"subst"	"0"	"00006"	"GJA8_000062"	"g.147380212G>A"	""	"{PMID:Zhang 2018:30078984}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908085G>A"	""	"pathogenic (dominant)"	""
"0000921817"	"0"	"90"	"1"	"147380212"	"147380212"	"subst"	"0"	"00006"	"GJA8_000062"	"g.147380212G>A"	""	"{PMID:Zhang 2018:30078984}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908085G>A"	""	"pathogenic (dominant)"	""
"0000921873"	"0"	"90"	"1"	"147380372"	"147380372"	"subst"	"0"	"00006"	"GJA8_000026"	"g.147380372T>G"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908245T>G"	""	"pathogenic (dominant)"	""
"0000921928"	"0"	"90"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908089G>T"	""	"pathogenic (dominant)"	""
"0000944683"	"11"	"70"	"1"	"147380146"	"147380146"	"subst"	"0"	"00006"	"GJA8_000067"	"g.147380146G>C"	""	"{PMID:Amine 2023:37931120}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908019G>C"	""	"likely pathogenic (dominant)"	""
"0000944690"	"1"	"70"	"1"	"147380155"	"147380155"	"subst"	"0"	"00006"	"GJA8_000068"	"g.147380155T>C"	""	"{PMID:Javadiyan 2017:28839118}"	""	""	"incomplete penetrance"	"Germline"	"yes"	""	"0"	""	""	"g.147908028T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000944691"	"11"	"50"	"1"	"147380566"	"147380566"	"subst"	"0"	"00006"	"GJA8_000069"	"g.147380566G>A"	""	"{PMID:Javadiyan 2017:28839118}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908439G>A"	""	"VUS"	"ACMG"
"0000944692"	"21"	"90"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000009"	"g.147380216G>C"	""	"{PMID:Javadiyan 2017:28839118}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908089G>C"	""	"pathogenic (dominant)"	"ACMG"
"0000946973"	"0"	"50"	"1"	"147380684"	"147380684"	"subst"	"0"	"02329"	"GJA8_000070"	"g.147380684A>C"	""	""	""	"GJA8(NM_005267.5):c.602A>C (p.E201A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000953744"	"21"	"70"	"1"	"147380105"	"147380116"	"del"	"0"	"00006"	"GJA8_000071"	"g.147380105_147380116del"	""	"{PMID:Astiazaran 2018:30450742}"	""	"21_32del"	""	"Germline"	"yes"	""	"0"	""	""	"g.147907978_147907989del"	""	"likely pathogenic (dominant)"	""
"0000953745"	"21"	"70"	"1"	"147380105"	"147380116"	"del"	"0"	"00006"	"GJA8_000071"	"g.147380105_147380116del"	""	"{PMID:Astiazaran 2018:30450742}"	""	"21_32del"	""	"Germline"	"yes"	""	"0"	""	""	"g.147907978_147907989del"	""	"likely pathogenic (dominant)"	""
"0000954781"	"11"	"70"	"1"	"147380218"	"147380218"	"subst"	"0"	"00006"	"GJA8_000074"	"g.147380218G>A"	""	"{PMID:Fan 2020:32883240}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908091G>A"	""	"likely pathogenic (dominant)"	""
"0000954801"	"11"	"10"	"1"	"147380740"	"147380740"	"subst"	"0.00228616"	"00006"	"GJA8_000032"	"g.147380740A>G"	""	"{PMID:Ma 2016:26694549}"	""	""	"in unaffected father"	"Germline"	""	"rs138140155"	"0"	""	""	"g.147908613A>G"	""	"benign"	""
"0000954802"	"0"	"70"	"1"	"147380201"	"147380201"	"subst"	"0"	"00006"	"GJA8_000073"	"g.147380201C>T"	""	"{PMID:Ma 2016:26694549}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908074C>T"	""	"likely pathogenic (dominant)"	""
"0000954809"	"3"	"90"	"1"	"147380171"	"147380171"	"dup"	"0"	"00006"	"GJA8_000072"	"g.147380171dup"	""	"{PMID:Ma 2016:26694549}"	""	"89dupT"	"father unavailable"	"Germline"	""	""	"0"	""	""	"g.147908044dup"	""	"pathogenic (recessive)"	""
"0000954814"	"0"	"90"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000009"	"g.147380216G>C"	""	"{PMID:Ma 2016:26694549}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908089G>C"	""	"pathogenic (dominant)"	""
"0000954835"	"0"	"70"	"1"	"147380233"	"147380233"	"subst"	"0"	"00006"	"GJA8_000075"	"g.147380233G>A"	""	"{PMID:Ma 2016:26694549}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.147908106G>A"	""	"likely pathogenic (dominant)"	""
"0000954871"	"1"	"90"	"1"	"147380542"	"147380542"	"subst"	"0"	"00006"	"GJA8_000077"	"g.147380542C>G"	""	"{PMID:Patel 2017:27878435}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908415C>G"	""	"pathogenic (dominant)"	""
"0000954903"	"1"	"90"	"1"	"147380282"	"147380282"	"subst"	"0"	"00006"	"GJA8_000076"	"g.147380282A>G"	""	"{PMID:Reis 2013:23508780}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908155A>G"	""	"pathogenic (dominant)"	""
"0000954909"	"1"	"90"	"1"	"147380308"	"147380308"	"subst"	"0"	"00006"	"GJA8_000064"	"g.147380308C>T"	""	"{PMID:Reis 2013:23508780}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908181C>T"	""	"pathogenic (dominant)"	""
"0000954918"	"1"	"10"	"1"	"147380823"	"147380823"	"subst"	"0.0035618"	"00006"	"GJA8_000021"	"g.147380823T>G"	""	"{PMID:Reis 2013:23508780}"	""	""	""	"Germline"	"no"	"rs80358202"	"0"	""	""	"g.147908696T>G"	""	"benign"	""
"0000954967"	"1"	"50"	"1"	"147380308"	"147380308"	"subst"	"0"	"00006"	"GJA8_000064"	"g.147380308C>T"	""	"{PMID:Kessel 2021:34169787}"	""	""	"VUS PS4sup, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.147908181C>T"	""	"VUS"	""
"0000955018"	"21"	"50"	"1"	"147380855"	"147380855"	"subst"	"0"	"00006"	"GJA8_000013"	"g.147380855C>T"	""	"{PMID:Reichsteiner 2021:34014271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908728C>T"	""	"VUS"	""
"0000955019"	"21"	"50"	"1"	"147380855"	"147380855"	"subst"	"0"	"00006"	"GJA8_000013"	"g.147380855C>T"	""	"{PMID:Reichsteiner 2021:34014271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908728C>T"	""	"VUS"	""
"0000955020"	"0"	"70"	"1"	"147380308"	"147380308"	"subst"	"0"	"00006"	"GJA8_000064"	"g.147380308C>T"	""	"{PMID:Reichsteiner 2021:34014271}"	""	""	"father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.147908181C>T"	""	"likely pathogenic (dominant)"	""
"0000957327"	"1"	"90"	"1"	"147380150"	"147380150"	"subst"	"0"	"00006"	"GJA8_000022"	"g.147380150G>C"	""	"{PMID:Khidiyatova 2023:37367076}"	""	"68G>T"	"ACMG PM1, PP1, PP3, PS3"	"Germline"	""	"rs80358203"	"0"	""	""	"g.147908023G>C"	""	"pathogenic (dominant)"	"ACMG"
"0000957328"	"1"	"90"	"1"	"147380150"	"147380150"	"subst"	"0"	"00006"	"GJA8_000022"	"g.147380150G>C"	""	"{PMID:Khidiyatova 2023:37367076}"	""	"68G>T"	"ACMG PM1, PP1, PP3, PS3"	"Germline"	""	"rs80358203"	"0"	""	""	"g.147908023G>C"	""	"pathogenic (dominant)"	"ACMG"
"0000957329"	"10"	"90"	"1"	"147380215"	"147380224"	"del"	"0"	"00006"	"GJA8_000080"	"g.147380215_147380224del"	""	"{PMID:Khidiyatova 2023:37367076}"	""	""	"ACMG PVS1, PM1, PM2"	"Germline"	""	""	"0"	""	""	"g.147908088_147908097del"	""	"pathogenic (dominant)"	"ACMG"
"0000957330"	"10"	"70"	"1"	"147380261"	"147380261"	"subst"	"0"	"00006"	"GJA8_000084"	"g.147380261G>A"	""	"{PMID:Khidiyatova 2023:37367076}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.147908134G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000957331"	"21"	"70"	"1"	"147380225"	"147380225"	"subst"	"0"	"00006"	"GJA8_000083"	"g.147380225A>G"	""	"{PMID:Khidiyatova 2023:37367076}"	""	""	"ACMG PM1, PM2, PM5, PP3"	"Germline"	""	""	"0"	""	""	"g.147908098A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000957340"	"11"	"50"	"1"	"147380823"	"147380823"	"subst"	"0.0035618"	"00006"	"GJA8_000021"	"g.147380823T>G"	""	"{PMID:Khidiyatova 2023:37367076}"	""	""	"ACMG PS4, PP4, BS3"	"Germline"	""	"rs80358202"	"0"	""	""	"g.147908696T>G"	""	"VUS"	"ACMG"
"0000957364"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000009"	"g.147380216G>C"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	""	"rs864309688"	"0"	""	""	"g.147908089G>C"	"rs864309688"	"likely pathogenic (dominant)"	""
"0000957388"	"11"	"70"	"1"	"147380102"	"147380102"	"subst"	"0"	"00006"	"GJA8_000079"	"g.147380102T>C"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147907975T>C"	""	"likely pathogenic (dominant)"	""
"0000957389"	"0"	"70"	"1"	"147380102"	"147380102"	"subst"	"0"	"00006"	"GJA8_000079"	"g.147380102T>C"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147907975T>C"	""	"likely pathogenic (dominant)"	""
"0000957408"	"1"	"90"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000081"	"g.147380216G>A"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908089G>A"	""	"pathogenic (recessive)"	""
"0000957409"	"0"	"90"	"1"	"147380674"	"147380674"	"subst"	"0"	"00006"	"GJA8_000012"	"g.147380674C>T"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908547C>T"	""	"pathogenic (dominant)"	""
"0000957410"	"0"	"90"	"1"	"147380674"	"147380674"	"subst"	"0"	"00006"	"GJA8_000012"	"g.147380674C>T"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908547C>T"	""	"pathogenic (dominant)"	""
"0000957418"	"0"	"90"	"1"	"147380221"	"147380221"	"subst"	"0"	"00006"	"GJA8_000082"	"g.147380221G>C"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	"rs121434643"	"0"	""	""	"g.147908094G>C"	"rs121434643"	"pathogenic (dominant)"	""
"0000957470"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908089G>T"	""	"likely pathogenic (dominant)"	""
"0000957471"	"11"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908089G>T"	""	"likely pathogenic (dominant)"	""
"0000957490"	"11"	"70"	"1"	"147380218"	"147380218"	"subst"	"0"	"00006"	"GJA8_000074"	"g.147380218G>A"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908091G>A"	""	"likely pathogenic (dominant)"	""
"0000957491"	"0"	"70"	"1"	"147380218"	"147380218"	"subst"	"0"	"00006"	"GJA8_000074"	"g.147380218G>A"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908091G>A"	""	"likely pathogenic (dominant)"	""
"0000957511"	"2"	"70"	"1"	"147381292"	"147381293"	"ins"	"0"	"00006"	"GJA8_000086"	"g.147381292_147381293insACAC"	""	"{PMID:Liu 2023:37337769}"	""	"1207_1208insCACA"	""	"Germline"	""	""	"0"	""	""	"g.147909165_147909166insACAC"	""	"likely pathogenic"	""
"0000957555"	"21"	"90"	"1"	"147381184"	"147381184"	"subst"	"0.000433387"	"00006"	"GJA8_000078"	"g.147381184G>C"	""	"{PMID:Senthil Kumar 2016:28530003}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147909057G>C"	""	"pathogenic (dominant)"	""
"0000957573"	"21"	"90"	"1"	"147380102"	"147380102"	"subst"	"0"	"00006"	"GJA8_000079"	"g.147380102T>C"	""	"{PMID:Mackay 2014:25403472}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147907975T>C"	""	"pathogenic (dominant)"	""
"0000957574"	"11"	"90"	"1"	"147380375"	"147380375"	"subst"	"0"	"00006"	"GJA8_000085"	"g.147380375A>C"	""	"{PMID:Mackay 2014:25403472}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.147908248A>C"	""	"pathogenic (dominant)"	""
"0000960468"	"0"	"50"	"1"	"147380843"	"147380843"	"subst"	"0"	"02327"	"GJA8_000087"	"g.147380843C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990246"	"0"	"90"	"1"	"147380216"	"147380216"	"subst"	"0"	"01804"	"GJA8_000056"	"g.147380216G>T"	""	""	""	"GJA8(NM_005267.4):c.134G>T (p.(Trp45Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000990247"	"0"	"50"	"1"	"147380239"	"147380239"	"subst"	"1.62427E-5"	"01804"	"GJA8_000088"	"g.147380239G>T"	""	""	""	"GJA8(NM_005267.4):c.157G>T (p.(Val53Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990248"	"0"	"30"	"1"	"147380421"	"147380421"	"subst"	"2.4378E-5"	"01804"	"GJA8_000089"	"g.147380421G>C"	""	""	""	"GJA8(NM_005267.4):c.339G>C (p.(Glu113Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990249"	"0"	"10"	"1"	"147380823"	"147380823"	"subst"	"0.0035618"	"02327"	"GJA8_000021"	"g.147380823T>G"	""	""	""	"GJA8(NM_005267.4):c.741T>G (p.I247M, p.(Ile247Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001031234"	"0"	"50"	"1"	"147380208"	"147380208"	"subst"	"0"	"01804"	"GJA8_000090"	"g.147380208G>C"	""	""	""	"GJA8(NM_005267.5):c.126G>C (p.(Glu42Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031235"	"0"	"30"	"1"	"147381178"	"147381178"	"subst"	"5.86849E-5"	"01804"	"GJA8_000091"	"g.147381178G>A"	""	""	""	"GJA8(NM_005267.5):c.1096G>A (p.(Val366Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001050241"	"0"	"50"	"1"	"147380488"	"147380488"	"subst"	"0"	"01804"	"GJA8_000092"	"g.147380488A>G"	""	""	""	"GJA8(NM_005267.5):c.406A>G (p.(Lys136Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001058064"	"0"	"70"	"1"	"147380245"	"147380245"	"subst"	"0"	"00006"	"GJA8_000059"	"g.147380245A>G"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908118A>G"	""	"likely pathogenic (dominant)"	""
"0001058065"	"0"	"70"	"1"	"147380092"	"147380092"	"subst"	"0"	"00006"	"GJA8_000093"	"g.147380092T>C"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147907965T>C"	""	"likely pathogenic (dominant)"	""
"0001058066"	"0"	"70"	"1"	"147380672"	"147380672"	"subst"	"0"	"00006"	"GJA8_000103"	"g.147380672C>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908545C>T"	""	"likely pathogenic (dominant)"	""
"0001058067"	"0"	"70"	"1"	"147380257"	"147380257"	"subst"	"0"	"00006"	"GJA8_000096"	"g.147380257C>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908130C>T"	""	"likely pathogenic (dominant)"	""
"0001058068"	"0"	"70"	"1"	"147380218"	"147380218"	"subst"	"0"	"00006"	"GJA8_000074"	"g.147380218G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908091G>A"	""	"likely pathogenic (dominant)"	""
"0001058069"	"0"	"70"	"1"	"147380198"	"147380198"	"subst"	"0"	"00006"	"GJA8_000095"	"g.147380198C>G"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908071C>G"	""	"likely pathogenic (dominant)"	""
"0001058070"	"0"	"70"	"1"	"147380266"	"147380266"	"subst"	"0"	"00006"	"GJA8_000097"	"g.147380266G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908139G>A"	""	"likely pathogenic (dominant)"	""
"0001058071"	"0"	"70"	"1"	"147380290"	"147380290"	"subst"	"0"	"00006"	"GJA8_000100"	"g.147380290T>C"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908163T>C"	""	"likely pathogenic (dominant)"	""
"0001058100"	"0"	"70"	"1"	"147380384"	"147380384"	"subst"	"0"	"00006"	"GJA8_000101"	"g.147380384G>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908257G>T"	""	"likely pathogenic (dominant)"	""
"0001058101"	"0"	"70"	"1"	"147380384"	"147380384"	"subst"	"0"	"00006"	"GJA8_000101"	"g.147380384G>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908257G>T"	""	"likely pathogenic (dominant)"	""
"0001058105"	"0"	"70"	"1"	"147380212"	"147380212"	"subst"	"0"	"00006"	"GJA8_000062"	"g.147380212G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908085G>A"	""	"likely pathogenic (dominant)"	""
"0001058106"	"0"	"70"	"1"	"147380212"	"147380212"	"subst"	"0"	"00006"	"GJA8_000062"	"g.147380212G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908085G>A"	""	"likely pathogenic (dominant)"	""
"0001058112"	"0"	"70"	"1"	"147380233"	"147380233"	"subst"	"0"	"00006"	"GJA8_000075"	"g.147380233G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908106G>A"	""	"likely pathogenic (dominant)"	""
"0001058122"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908089G>T"	""	"likely pathogenic (dominant)"	""
"0001058123"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908089G>T"	""	"likely pathogenic (dominant)"	""
"0001058129"	"0"	"70"	"1"	"147380279"	"147380279"	"subst"	"0"	"00006"	"GJA8_000098"	"g.147380279A>G"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908152A>G"	""	"likely pathogenic (dominant)"	""
"0001058130"	"0"	"70"	"1"	"147380279"	"147380279"	"subst"	"0"	"00006"	"GJA8_000098"	"g.147380279A>G"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908152A>G"	""	"likely pathogenic (dominant)"	""
"0001058139"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908089G>T"	""	"likely pathogenic (dominant)"	""
"0001058140"	"0"	"70"	"1"	"147380216"	"147380216"	"subst"	"0"	"00006"	"GJA8_000056"	"g.147380216G>T"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908089G>T"	""	"likely pathogenic (dominant)"	""
"0001058141"	"0"	"70"	"1"	"147380749"	"147380749"	"subst"	"0"	"00006"	"GJA8_000054"	"g.147380749G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908622G>A"	""	"likely pathogenic (dominant)"	""
"0001058167"	"0"	"70"	"1"	"147380449"	"147380449"	"subst"	"4.08073E-6"	"00006"	"GJA8_000102"	"g.147380449G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908322G>A"	""	"likely pathogenic (dominant)"	""
"0001058190"	"0"	"70"	"1"	"147380233"	"147380233"	"subst"	"0"	"00006"	"GJA8_000075"	"g.147380233G>A"	""	"{PMID:Guo 2025:40449652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.147908106G>A"	""	"likely pathogenic (dominant)"	""
"0001058232"	"0"	"70"	"1"	"147380102"	"147380102"	"subst"	"0"	"00006"	"GJA8_000079"	"g.147380102T>C"	""	"{PMID:Wang 2024:38184101}"	""	""	"ACMG PS2_mod, PS4_sup, PM2_sup, PP1, PP3"	"Germline"	""	""	"0"	""	""	"g.147907975T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0001058233"	"0"	"50"	"1"	"147380132"	"147380132"	"subst"	"0"	"00006"	"GJA8_000094"	"g.147380132A>C"	""	"{PMID:Wang 2024:38184101}"	""	""	"ACMG PM2_sup, PP1_sup, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.147908005A>C"	""	"VUS"	"ACMG"
"0001058234"	"0"	"90"	"1"	"147380225"	"147380225"	"subst"	"0"	"00006"	"GJA8_000083"	"g.147380225A>G"	""	"{PMID:Wang 2024:38184101}"	""	""	"ACMG PS2, PM2_sup, PM5, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.147908098A>G"	""	"pathogenic (dominant)"	"ACMG"
"0001058235"	"0"	"50"	"1"	"147380245"	"147380245"	"subst"	"0"	"00006"	"GJA8_000059"	"g.147380245A>G"	""	"{PMID:Wang 2024:38184101}"	""	""	"ACMG PS2_mod, PS4_sup, PM2_sup, PP3"	"Germline"	""	""	"0"	""	""	"g.147908118A>G"	""	"VUS"	"ACMG"
"0001058236"	"0"	"50"	"1"	"147380288"	"147380288"	"subst"	"0"	"00006"	"GJA8_000099"	"g.147380288C>T"	""	"{PMID:Wang 2024:38184101}"	""	""	"ACMG PM2_sup, PM5, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.147908161C>T"	""	"VUS"	"ACMG"
"0001058237"	"0"	"90"	"1"	"147380683"	"147380683"	"subst"	"0"	"00006"	"GJA8_000104"	"g.147380683G>A"	""	"{PMID:Wang 2024:38184101}"	""	""	"ACMG PS2_mod, PS3_sup, PM2_sup, PP1_strong, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.147908556G>A"	""	"pathogenic (dominant)"	"ACMG"
"0001059889"	"11"	"70"	"1"	"147380183"	"147380183"	"subst"	"0"	"00006"	"GJA8_000105"	"g.147380183T>C"	""	"{PMID:Lecca 2024:38840272}"	""	""	"ACMG PM2_P, PP2_P, PP3_S"	"Germline"	""	""	"0"	""	""	"g.147908056T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0001059890"	"0"	"70"	"1"	"147380183"	"147380183"	"subst"	"0"	"00006"	"GJA8_000105"	"g.147380183T>C"	""	"{PMID:Lecca 2024:38840272}"	""	""	"ACMG PM2_P, PP2_P, PP3_S"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.147908056T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0001059915"	"21"	"50"	"1"	"147380716"	"147380716"	"subst"	"0"	"00006"	"GJA8_000106"	"g.147380716G>T"	""	"{PMID:Lecca 2024:38840272}"	""	""	"ACMG PM2_P, PP2_P, PP3_M"	"Germline"	""	""	"0"	""	""	"g.147908589G>T"	""	"VUS"	"ACMG"
"0001059916"	"21"	"50"	"1"	"147380716"	"147380716"	"subst"	"0"	"00006"	"GJA8_000106"	"g.147380716G>T"	""	"{PMID:Lecca 2024:38840272}"	""	""	"ACMG PM2_P, PP2_P, PP3_M"	"Germline"	""	""	"0"	""	""	"g.147908589G>T"	""	"VUS"	"ACMG"
"0001059917"	"0"	"50"	"1"	"147380716"	"147380716"	"subst"	"0"	"00006"	"GJA8_000106"	"g.147380716G>T"	""	"{PMID:Lecca 2024:38840272}"	""	""	"ACMG PM2_P, PP2_P, PP3_M"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.147908589G>T"	""	"VUS"	"ACMG"


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GJA8
## Count = 155
"{{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}}"
"0000079373"	"00008533"	"00"	"290"	"0"	"290"	"0"	"c.290T>G"	"r.(?)"	"p.(Val97Gly)"	""
"0000079495"	"00008533"	"00"	"-1622618"	"0"	"1556630"	"0"	"c.-1622618_*1555328del"	"r.?"	"p.?"	""
"0000079664"	"00008533"	"00"	"-1609566"	"0"	"870891"	"0"	"c.-1609566_*869589dup"	"r.?"	"p.?"	""
"0000090838"	"00008533"	"90"	"145"	"0"	"145"	"0"	"c.145C>G"	"r.(?)"	"p.(Gln49Glu)"	"2"
"0000090849"	"00008533"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Pro88Ser)"	"2"
"0000090850"	"00008533"	"90"	"142"	"0"	"142"	"0"	"c.142G>A"	"r.(?)"	"p.(Glu48Lys)"	"2"
"0000090851"	"00008533"	"90"	"741"	"0"	"741"	"0"	"c.741T>G"	"r.(?)"	"p.(Ile247Met)"	"2"
"0000090852"	"00008533"	"90"	"68"	"0"	"68"	"0"	"c.68G>C"	"r.(?)"	"p.(Arg23Thr)"	"2"
"0000090853"	"00008533"	"90"	"131"	"0"	"131"	"0"	"c.131T>A"	"r.(?)"	"p.(Val44Glu)"	"2"
"0000090854"	"00008533"	"90"	"593"	"0"	"593"	"0"	"c.593G>A"	"r.(?)"	"p.(Arg198Gln)"	"2"
"0000090855"	"00008533"	"90"	"139"	"0"	"139"	"0"	"c.139G>A"	"r.(?)"	"p.(Asp47Asn)"	"2"
"0000090861"	"00008533"	"90"	"218"	"0"	"218"	"0"	"c.218C>T"	"r.(?)"	"p.(Ser73Phe)"	"2"
"0000090868"	"00008533"	"90"	"776"	"0"	"776"	"0"	"c.776C>A"	"r.(?)"	"p.(Ser259Tyr)"	"2"
"0000090870"	"00008533"	"50"	"827"	"0"	"827"	"0"	"c.827C>T"	"r.(?)"	"p.(Ser276Phe)"	"2"
"0000091164"	"00008533"	"90"	"593"	"0"	"593"	"0"	"c.593G>A"	"r.(?)"	"p.(Arg198Gln)"	"2"
"0000091171"	"00008533"	"90"	"569"	"0"	"569"	"0"	"c.569A>G"	"r.(?)"	"p.(Asn190Ser)"	"2"
"0000096830"	"00008533"	"90"	"1273"	"0"	"1273"	"0"	"c.1273C>T"	"r.(?)"	"p.(Arg425*)"	"2"
"0000096832"	"00008533"	"70"	"293"	"0"	"293"	"0"	"c.293A>G"	"r.(?)"	"p.(His98Arg)"	"2"
"0000166308"	"00008533"	"70"	"914"	"0"	"914"	"0"	"c.914G>A"	"r.(?)"	"p.(Ser305Asn)"	"2"
"0000167016"	"00008533"	"70"	"9"	"0"	"9"	"0"	"c.9C>G"	"r.(?)"	"p.(Asp3Glu)"	"2"
"0000254785"	"00008533"	"30"	"658"	"0"	"658"	"0"	"c.658A>G"	"r.(?)"	"p.(Asn220Asp)"	""
"0000288346"	"00008533"	"30"	"385"	"0"	"385"	"0"	"c.385G>A"	"r.(?)"	"p.(Val129Ile)"	""
"0000288347"	"00008533"	"30"	"741"	"0"	"741"	"0"	"c.741T>G"	"r.(?)"	"p.(Ile247Met)"	""
"0000348099"	"00008533"	"30"	"250"	"0"	"250"	"0"	"c.250T>A"	"r.(?)"	"p.(Phe84Ile)"	""
"0000349568"	"00008533"	"50"	"167"	"0"	"167"	"0"	"c.167C>T"	"r.(?)"	"p.(Thr56Ile)"	""
"0000503037"	"00008533"	"30"	"117"	"0"	"117"	"0"	"c.117G>A"	"r.(?)"	"p.(Thr39=)"	""
"0000503038"	"00008533"	"70"	"140"	"0"	"140"	"0"	"c.140A>G"	"r.(?)"	"p.(Asp47Gly)"	""
"0000503039"	"00008533"	"30"	"333"	"0"	"333"	"0"	"c.333G>A"	"r.(?)"	"p.(Ala111=)"	""
"0000503040"	"00008533"	"30"	"477"	"0"	"477"	"0"	"c.477C>T"	"r.(?)"	"p.(Thr159=)"	""
"0000503042"	"00008533"	"30"	"658"	"0"	"658"	"0"	"c.658A>G"	"r.(?)"	"p.(Asn220Asp)"	""
"0000503043"	"00008533"	"30"	"741"	"0"	"741"	"0"	"c.741T>G"	"r.(?)"	"p.(Ile247Met)"	""
"0000503044"	"00008533"	"30"	"1161"	"0"	"1161"	"0"	"c.1161G>T"	"r.(?)"	"p.(Gln387His)"	""
"0000503045"	"00008533"	"30"	"1162"	"0"	"1162"	"0"	"c.1162T>G"	"r.(?)"	"p.(Ser388Ala)"	""
"0000653651"	"00008533"	"30"	"51"	"0"	"51"	"0"	"c.51C>T"	"r.(?)"	"p.(His17=)"	""
"0000653652"	"00008533"	"50"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Trp)"	""
"0000675459"	"00008533"	"50"	"145"	"0"	"145"	"0"	"c.145C>G"	"r.(?)"	"p.(Gln49Glu)"	""
"0000675460"	"00008533"	"50"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Pro243Ser)"	""
"0000675461"	"00008533"	"50"	"1105"	"0"	"1105"	"0"	"c.1105G>T"	"r.(?)"	"p.(Gly369Trp)"	""
"0000687860"	"00008533"	"30"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Ile34=)"	""
"0000687861"	"00008533"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76His)"	""
"0000716777"	"00008533"	"50"	"19"	"0"	"30"	"0"	"c.19_30del"	"r.(?)"	"p.(Gly8_Leu11del)"	""
"0000716778"	"00008533"	"50"	"22"	"0"	"22"	"0"	"c.22G>A"	"r.(?)"	"p.(Gly8Arg)"	""
"0000716779"	"00008533"	"50"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Trp)"	""
"0000716780"	"00008533"	"30"	"1095"	"0"	"1095"	"0"	"c.1095C>T"	"r.(?)"	"p.(Ala365=)"	""
"0000716781"	"00008533"	"30"	"1129"	"0"	"1129"	"0"	"c.1129G>A"	"r.(?)"	"p.(Val377Met)"	""
"0000765965"	"00008533"	"70"	"569"	"0"	"569"	"0"	"c.569A>G"	"r.(?)"	"p.(Asn190Ser)"	""
"0000797426"	"00008533"	"70"	"77"	"0"	"77"	"0"	"c.77T>C"	"r.(?)"	"p.(Leu26Pro)"	""
"0000812761"	"00008533"	"70"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0000814361"	"00008533"	"50"	"293"	"0"	"293"	"0"	"c.293A>G"	"r.(?)"	"p.(His98Arg)"	""
"0000814386"	"00008533"	"50"	"263"	"0"	"263"	"0"	"c.263C>T"	"r.(?)"	"p.(Pro88Leu)"	""
"0000824280"	"00008533"	"90"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0000856952"	"00008533"	"90"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76His)"	""
"0000856953"	"00008533"	"50"	"1300"	"0"	"1300"	"0"	"c.1300T>C"	"r.(?)"	"p.(*434Argext*?)"	""
"0000873493"	"00008533"	"70"	"154"	"0"	"154"	"0"	"c.154T>C"	"r.(?)"	"p.(Phe52Leu)"	""
"0000873511"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>C"	"r.(?)"	"p.(Trp45Ser)"	""
"0000873543"	"00008533"	"70"	"163"	"0"	"163"	"0"	"c.163A>G"	"r.(?)"	"p.(Asn55Asp)"	""
"0000873563"	"00008533"	"70"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Ser258Phe)"	""
"0000882755"	"00008533"	"50"	"596"	"0"	"596"	"0"	"c.596C>G"	"r.(?)"	"p.(Pro199Arg)"	""
"0000921593"	"00008533"	"90"	"566"	"0"	"566"	"0"	"c.566C>T"	"r.(?)"	"p.(Pro189Leu)"	""
"0000921605"	"00008533"	"10"	"658"	"0"	"658"	"0"	"c.658A>G"	"r.(?)"	"p.(Asn220Asp)"	"2"
"0000921609"	"00008533"	"10"	"658"	"0"	"658"	"0"	"c.658A>G"	"r.(?)"	"p.(Asn220Asp)"	"2"
"0000921619"	"00008533"	"70"	"154"	"0"	"154"	"0"	"c.154T>C"	"r.(?)"	"p.(Phe52Leu)"	""
"0000921647"	"00008533"	"30"	"804"	"0"	"804"	"0"	"c.804C>T"	"r.(?)"	"p.(Leu268=)"	""
"0000921796"	"00008533"	"70"	"226"	"0"	"226"	"0"	"c.226C>G"	"r.(?)"	"p.(Arg76Gly)"	""
"0000921797"	"00008533"	"70"	"64"	"0"	"64"	"0"	"c.64G>A"	"r.(?)"	"p.(Gly22Ser)"	""
"0000921798"	"00008533"	"70"	"565"	"0"	"565"	"0"	"c.565C>G"	"r.(?)"	"p.(Pro189Ala)"	""
"0000921799"	"00008533"	"70"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Cys)"	""
"0000921800"	"00008533"	"90"	"592"	"0"	"592"	"0"	"c.592C>T"	"r.(?)"	"p.(Arg198Trp)"	""
"0000921816"	"00008533"	"90"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Val44Met)"	""
"0000921817"	"00008533"	"90"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Val44Met)"	""
"0000921873"	"00008533"	"90"	"290"	"0"	"290"	"0"	"c.290T>G"	"r.(?)"	"p.(Val97Gly)"	""
"0000921928"	"00008533"	"90"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0000944683"	"00008533"	"70"	"64"	"0"	"64"	"0"	"c.64G>C"	"r.(?)"	"p.(Gly22Arg)"	""
"0000944690"	"00008533"	"70"	"73"	"0"	"73"	"0"	"c.73T>C"	"r.(?)"	"p.(Trp25Arg)"	""
"0000944691"	"00008533"	"50"	"484"	"0"	"484"	"0"	"c.484G>A"	"r.(?)"	"p.(Glu162Lys)"	""
"0000944692"	"00008533"	"90"	"134"	"0"	"134"	"0"	"c.134G>C"	"r.(?)"	"p.(Trp45Ser)"	""
"0000946973"	"00008533"	"50"	"602"	"0"	"602"	"0"	"c.602A>C"	"r.(?)"	"p.(Glu201Ala)"	""
"0000953744"	"00008533"	"70"	"23"	"0"	"34"	"0"	"c.23_34del"	"r.(?)"	"p.(Gly8_Leu11del)"	""
"0000953745"	"00008533"	"70"	"23"	"0"	"34"	"0"	"c.23_34del"	"r.(?)"	"p.(Gly8_Leu11del)"	""
"0000954781"	"00008533"	"70"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Gly46Arg)"	""
"0000954801"	"00008533"	"10"	"658"	"0"	"658"	"0"	"c.658A>G"	"r.(?)"	"p.(Asn220Asp)"	""
"0000954802"	"00008533"	"70"	"119"	"0"	"119"	"0"	"c.119C>T"	"r.(?)"	"p.(Ala40Val)"	""
"0000954809"	"00008533"	"90"	"89"	"0"	"89"	"0"	"c.89dupT"	"r.(?)"	"p.(Ile31HisfsTer18)"	""
"0000954814"	"00008533"	"90"	"134"	"0"	"134"	"0"	"c.134G>C"	"r.(?)"	"p.(Trp45Ser)"	""
"0000954835"	"00008533"	"70"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Asp51Asn)"	""
"0000954871"	"00008533"	"90"	"460"	"0"	"460"	"0"	"c.460C>G"	"r.(?)"	"p.(His154Asp)"	""
"0000954903"	"00008533"	"90"	"200"	"0"	"200"	"0"	"c.200A>G"	"r.(?)"	"p.(Asp67Gly)"	""
"0000954909"	"00008533"	"90"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Cys)"	""
"0000954918"	"00008533"	"10"	"741"	"0"	"741"	"0"	"c.741T>G"	"r.(?)"	"p.(Ile247Met)"	""
"0000954967"	"00008533"	"50"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Cys)"	""
"0000955018"	"00008533"	"50"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Ser258Phe)"	""
"0000955019"	"00008533"	"50"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Ser258Phe)"	""
"0000955020"	"00008533"	"70"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Cys)"	""
"0000957327"	"00008533"	"90"	"68"	"0"	"68"	"0"	"c.68G>C"	"r.(?)"	"p.(Arg23Thr)"	""
"0000957328"	"00008533"	"90"	"68"	"0"	"68"	"0"	"c.68G>C"	"r.(?)"	"p.(Arg23Thr)"	""
"0000957329"	"00008533"	"90"	"133"	"0"	"142"	"0"	"c.133_142del"	"r.(?)"	"p.(Trp45SerfsTer43)"	""
"0000957330"	"00008533"	"70"	"179"	"0"	"179"	"0"	"c.179G>A"	"r.(?)"	"p.(Gly60Asp)"	""
"0000957331"	"00008533"	"70"	"143"	"0"	"143"	"0"	"c.143A>G"	"r.(?)"	"p.(Glu48Gly)"	""
"0000957340"	"00008533"	"50"	"741"	"0"	"741"	"0"	"c.741T>G"	"r.(?)"	"p.(Ile247Met)"	""
"0000957364"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>C"	"r.(?)"	"p.(Trp45Ser)"	"2"
"0000957388"	"00008533"	"70"	"20"	"0"	"20"	"0"	"c.20T>C"	"r.(?)"	"p.(Leu7Pro)"	"2"
"0000957389"	"00008533"	"70"	"20"	"0"	"20"	"0"	"c.20T>C"	"r.(?)"	"p.(Leu7Pro)"	"2"
"0000957408"	"00008533"	"90"	"134"	"0"	"134"	"0"	"c.134G>A"	"r.(?)"	"p.(Trp45Ter)"	""
"0000957409"	"00008533"	"90"	"592"	"0"	"592"	"0"	"c.592C>T"	"r.(?)"	"p.(Arg198Trp)"	"2"
"0000957410"	"00008533"	"90"	"592"	"0"	"592"	"0"	"c.592C>T"	"r.(?)"	"p.(Arg198Trp)"	"2"
"0000957418"	"00008533"	"90"	"139"	"0"	"139"	"0"	"c.139G>C"	"r.(?)"	"p.(Asp47His)"	"2"
"0000957470"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0000957471"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0000957490"	"00008533"	"70"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Gly46Arg)"	"2"
"0000957491"	"00008533"	"70"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Gly46Arg)"	"2"
"0000957511"	"00008533"	"70"	"1210"	"0"	"1211"	"0"	"c.1210_1211insACAC"	"r.(?)"	"p.(Leu404HisfsTer10)"	""
"0000957555"	"00008533"	"90"	"1102"	"0"	"1102"	"0"	"c.1102G>C"	"r.(?)"	"p.(Glu368Gln)"	""
"0000957573"	"00008533"	"90"	"20"	"0"	"20"	"0"	"c.20T>C"	"r.(?)"	"p.(Leu7Pro)"	""
"0000957574"	"00008533"	"90"	"293"	"0"	"293"	"0"	"c.293A>C"	"r.(?)"	"p.(His98Pro)"	""
"0000960468"	"00008533"	"50"	"761"	"0"	"761"	"0"	"c.761C>T"	"r.(?)"	"p.(Ser254Phe)"	""
"0000990246"	"00008533"	"90"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0000990247"	"00008533"	"50"	"157"	"0"	"157"	"0"	"c.157G>T"	"r.(?)"	"p.(Val53Leu)"	""
"0000990248"	"00008533"	"30"	"339"	"0"	"339"	"0"	"c.339G>C"	"r.(?)"	"p.(Glu113Asp)"	""
"0000990249"	"00008533"	"10"	"741"	"0"	"741"	"0"	"c.741T>G"	"r.(?)"	"p.(Ile247Met)"	""
"0001031234"	"00008533"	"50"	"126"	"0"	"126"	"0"	"c.126G>C"	"r.(?)"	"p.(Glu42Asp)"	""
"0001031235"	"00008533"	"30"	"1096"	"0"	"1096"	"0"	"c.1096G>A"	"r.(?)"	"p.(Val366Met)"	""
"0001050241"	"00008533"	"50"	"406"	"0"	"406"	"0"	"c.406A>G"	"r.(?)"	"p.(Lys136Glu)"	""
"0001058064"	"00008533"	"70"	"163"	"0"	"163"	"0"	"c.163A>G"	"r.(?)"	"p.(Asn55Asp)"	""
"0001058065"	"00008533"	"70"	"10"	"0"	"10"	"0"	"c.10T>C"	"r.(?)"	"p.(Trp4Arg)"	""
"0001058066"	"00008533"	"70"	"590"	"0"	"590"	"0"	"c.590C>T"	"r.(?)"	"p.(Ser197Phe)"	""
"0001058067"	"00008533"	"70"	"175"	"0"	"175"	"0"	"c.175C>T"	"r.(?)"	"p.(Pro59Ser)"	""
"0001058068"	"00008533"	"70"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Gly46Arg)"	""
"0001058069"	"00008533"	"70"	"116"	"0"	"116"	"0"	"c.116C>G"	"r.(?)"	"p.(Thr39Arg)"	""
"0001058070"	"00008533"	"70"	"184"	"0"	"184"	"0"	"c.184G>A"	"r.(?)"	"p.(Glu62Lys)"	""
"0001058071"	"00008533"	"70"	"208"	"0"	"208"	"0"	"c.208T>C"	"r.(?)"	"p.(Phe70Leu)"	""
"0001058100"	"00008533"	"70"	"302"	"0"	"302"	"0"	"c.302G>T"	"r.(?)"	"p.(Arg101Leu)"	""
"0001058101"	"00008533"	"70"	"302"	"0"	"302"	"0"	"c.302G>T"	"r.(?)"	"p.(Arg101Leu)"	""
"0001058105"	"00008533"	"70"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Val44Met)"	""
"0001058106"	"00008533"	"70"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Val44Met)"	""
"0001058112"	"00008533"	"70"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Asp51Asn)"	""
"0001058122"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0001058123"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0001058129"	"00008533"	"70"	"197"	"0"	"197"	"0"	"c.197A>G"	"r.(?)"	"p.(Tyr66Cys)"	""
"0001058130"	"00008533"	"70"	"197"	"0"	"197"	"0"	"c.197A>G"	"r.(?)"	"p.(Tyr66Cys)"	""
"0001058139"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0001058140"	"00008533"	"70"	"134"	"0"	"134"	"0"	"c.134G>T"	"r.(?)"	"p.(Trp45Leu)"	""
"0001058141"	"00008533"	"70"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0001058167"	"00008533"	"70"	"367"	"0"	"367"	"0"	"c.367G>A"	"r.(?)"	"p.(Gly123Ser)"	""
"0001058190"	"00008533"	"70"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Asp51Asn)"	""
"0001058232"	"00008533"	"70"	"20"	"0"	"20"	"0"	"c.20T>C"	"r.(?)"	"p.(Leu7Pro)"	""
"0001058233"	"00008533"	"50"	"50"	"0"	"50"	"0"	"c.50A>C"	"r.(?)"	"p.(His17Pro)"	""
"0001058234"	"00008533"	"90"	"143"	"0"	"143"	"0"	"c.143A>G"	"r.(?)"	"p.(Glu48Gly)"	""
"0001058235"	"00008533"	"50"	"163"	"0"	"163"	"0"	"c.163A>G"	"r.(?)"	"p.(Asn55Asp)"	""
"0001058236"	"00008533"	"50"	"206"	"0"	"206"	"0"	"c.206C>T"	"r.(?)"	"p.(Ala69Val)"	""
"0001058237"	"00008533"	"90"	"601"	"0"	"601"	"0"	"c.601G>A"	"r.(?)"	"p.(Glu201Lys)"	""
"0001059889"	"00008533"	"70"	"101"	"0"	"101"	"0"	"c.101T>C"	"r.(?)"	"p.(Ile34Thr)"	""
"0001059890"	"00008533"	"70"	"101"	"0"	"101"	"0"	"c.101T>C"	"r.(?)"	"p.(Ile34Thr)"	""
"0001059915"	"00008533"	"50"	"634"	"0"	"634"	"0"	"c.634G>T"	"r.(?)"	"p.(Val212Leu)"	""
"0001059916"	"00008533"	"50"	"634"	"0"	"634"	"0"	"c.634G>T"	"r.(?)"	"p.(Val212Leu)"	""
"0001059917"	"00008533"	"50"	"634"	"0"	"634"	"0"	"c.634G>T"	"r.(?)"	"p.(Val212Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 118
"{{screeningid}}"	"{{variantid}}"
"0000050393"	"0000079373"
"0000050432"	"0000079664"
"0000050515"	"0000079495"
"0000060049"	"0000090838"
"0000060060"	"0000090849"
"0000060061"	"0000090850"
"0000060062"	"0000090851"
"0000060063"	"0000090852"
"0000060064"	"0000090853"
"0000060065"	"0000090854"
"0000060066"	"0000090855"
"0000060072"	"0000090861"
"0000060079"	"0000090868"
"0000060081"	"0000090870"
"0000060192"	"0000091164"
"0000060197"	"0000091171"
"0000065174"	"0000096830"
"0000065176"	"0000096832"
"0000103193"	"0000166308"
"0000103583"	"0000167016"
"0000365015"	"0000765965"
"0000383365"	"0000797426"
"0000385660"	"0000812761"
"0000386681"	"0000814361"
"0000386706"	"0000814386"
"0000393518"	"0000824280"
"0000415650"	"0000873493"
"0000415665"	"0000873511"
"0000415686"	"0000873543"
"0000415702"	"0000873563"
"0000435573"	"0000921593"
"0000435583"	"0000921605"
"0000435587"	"0000921609"
"0000435596"	"0000921619"
"0000435597"	"0000921647"
"0000435635"	"0000921796"
"0000435636"	"0000921797"
"0000435637"	"0000921798"
"0000435638"	"0000921799"
"0000435639"	"0000921800"
"0000435654"	"0000921816"
"0000435655"	"0000921817"
"0000435700"	"0000921873"
"0000435755"	"0000921928"
"0000443282"	"0000944683"
"0000443288"	"0000944690"
"0000443289"	"0000944691"
"0000443290"	"0000944692"
"0000445610"	"0000953744"
"0000445611"	"0000953745"
"0000446438"	"0000954781"
"0000446454"	"0000954801"
"0000446455"	"0000954802"
"0000446466"	"0000954809"
"0000446472"	"0000954814"
"0000446497"	"0000954835"
"0000446527"	"0000954871"
"0000446557"	"0000954918"
"0000446558"	"0000954903"
"0000446566"	"0000954909"
"0000446614"	"0000954967"
"0000446659"	"0000955018"
"0000446660"	"0000955019"
"0000446661"	"0000955020"
"0000447955"	"0000957327"
"0000447956"	"0000957328"
"0000447957"	"0000957329"
"0000447958"	"0000957330"
"0000447959"	"0000957331"
"0000447959"	"0000957340"
"0000447984"	"0000957364"
"0000448008"	"0000957388"
"0000448009"	"0000957389"
"0000448028"	"0000957408"
"0000448028"	"0000957511"
"0000448029"	"0000957409"
"0000448030"	"0000957410"
"0000448038"	"0000957418"
"0000448090"	"0000957470"
"0000448091"	"0000957471"
"0000448110"	"0000957490"
"0000448111"	"0000957491"
"0000448160"	"0000957555"
"0000448176"	"0000957573"
"0000448177"	"0000957574"
"0000469983"	"0001058064"
"0000469984"	"0001058065"
"0000469985"	"0001058066"
"0000469986"	"0001058067"
"0000469987"	"0001058068"
"0000469988"	"0001058069"
"0000469989"	"0001058070"
"0000469990"	"0001058071"
"0000470019"	"0001058100"
"0000470020"	"0001058101"
"0000470024"	"0001058105"
"0000470025"	"0001058106"
"0000470030"	"0001058190"
"0000470031"	"0001058112"
"0000470041"	"0001058122"
"0000470042"	"0001058123"
"0000470048"	"0001058129"
"0000470049"	"0001058130"
"0000470058"	"0001058139"
"0000470059"	"0001058140"
"0000470060"	"0001058141"
"0000470086"	"0001058167"
"0000470145"	"0001058232"
"0000470146"	"0001058233"
"0000470147"	"0001058234"
"0000470148"	"0001058235"
"0000470149"	"0001058236"
"0000470150"	"0001058237"
"0000471665"	"0001059889"
"0000471666"	"0001059890"
"0000471691"	"0001059915"
"0000471692"	"0001059916"
"0000471693"	"0001059917"