### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FRMD7)
# 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}}"
"FRMD7"	"FERM domain containing 7"	"X"	"q26.2"	"unknown"	"NG_012347.1"	"UD_132118861984"	""	"https://www.LOVD.nl/FRMD7"	""	"1"	"8079"	"90167"	"300628"	"1"	"1"	"1"	"1"	"This gene sequence variant database has been initiated based on the data reported by <a href=\"http://www.ncbi.nlm.nih.gov/pubmed/19377476\">Tarpey et al. (2009) <i>A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543</i></a>. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/FRMD7_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2009-11-10 00:00:00"	"00006"	"2023-06-07 22:49:50"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00000847"	"FRMD7"	"FERM domain containing 7"	"001"	"NM_194277.2"	""	"NP_919253.1"	""	""	""	"-178"	"3024"	"2145"	"131211021"	"131262050"	"00000"	"2012-09-13 12:55:22"	""	""


## 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}}"
"00187"	"MRX;IDX"	"mental retardation, X-linked (MRX, intellectual disability (IDX))"	""	""	""	"X-linked"	""	"00006"	"2013-09-05 15:56:47"	"00006"	"2018-12-18 09:23:21"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00293"	"FVH2"	"hypoplasia, foveal, type  2, with or without optic nerve misrouting and/or anterior segment dysgenesis"	"AR"	"609218"	""	""	""	"00006"	"2013-12-24 22:31:42"	"00006"	"2021-12-10 21:51:32"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02253"	"NYS1"	"nystagmus, type 1, congenital, X-linked (NYS-1)"	"XL"	"310700"	""	""	""	"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"
"05324"	"DMD"	"dystrophy, muscular, Duchenne type (DMD)"	"XLR"	"310200"	""	""	""	"00006"	"2017-09-01 17:41:21"	"00006"	"2021-12-10 21:51:32"
"05969"	"NYS"	"nystagmus"	""	""	""	""	""	"00006"	"2021-09-09 11:25:37"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"FRMD7"	"02253"
"FRMD7"	"05969"


## Individuals ## Do not remove or alter this header ##
## Count = 90
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00035871"	""	""	""	"1"	""	"01164"	""	"2-generation family, affected male and heterozygous carrier mother"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00035872"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035873"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035874"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035875"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00050453"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected and affected2nd degree relatives"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00088176"	""	""	""	"2"	""	"01823"	"{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}"	"3-generation family, 2 affected"	"F;M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"NYS-001"
"00088178"	""	""	""	"10"	""	"01823"	"{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}"	"4-generation family, 10 affected (3F, 7M)"	"F;M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"NYS-003"
"00088182"	""	""	""	"3"	""	"01823"	"{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}"	"4-generation family, 5 affected (3F, 2M)"	"F;M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"NYS-007"
"00173108"	""	""	""	"16"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173109"	""	""	""	"15"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173110"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173111"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173112"	""	""	""	"61"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173113"	""	""	""	"19"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173114"	""	""	""	"9"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00183319"	""	""	""	"9"	""	"00006"	"{PMID:Ansar 2018:30290152}"	"5-generation family, 9 affected (5F, 4M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"30290152-FamF385"
"00294936"	""	""	""	"55"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305267"	""	""	""	"29"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00311040"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00320076"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"172087"
"00324433"	""	""	""	"2"	""	"01823"	""	""	"M"	""	""	""	""	""	""	""	"F3:III-1"
"00332405"	""	""	""	"1"	""	"00000"	"{PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat26"
"00332406"	""	""	""	"1"	""	"00000"	"{PMID:Rim 2017:29145603}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat27"
"00379746"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"IR_GH_0088"
"00379807"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"IR_GH_0173"
"00379839"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016121204"
"00382169"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"9205558"
"00382170"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"8605973"
"00382171"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"9347161"
"00382172"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"7788128"
"00382173"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"9046847"
"00382174"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"7364197"
"00382175"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"7915474"
"00382176"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"6038593"
"00382177"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"9265908"
"00382178"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"8224311"
"00382179"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"9125089"
"00382180"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"3088013"
"00382181"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"9327538"
"00382182"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"10019983"
"00382183"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"7575041"
"00382184"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"5485887"
"00382185"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"9295777"
"00382186"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"9228996"
"00382187"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"9225723"
"00382188"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"7805518"
"00382189"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"8216321"
"00382190"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"10050576"
"00383283"	""	""	""	"1"	""	"00227"	""	""	"M"	"no"	"China"	""	""	""	""	""	""
"00384258"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13219"
"00384294"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13503"
"00384309"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"13595"
"00384374"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14063"
"00393607"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00399365"	""	""	""	"2"	""	"00006"	"{PMID:Kuht 2020:32744312}"	"2-generation family, affected sister/brother, unaffected heterozygous carrier parents"	"F"	"no"	"Korea"	""	"0"	""	""	""	"F5:II-1"
"00399366"	""	""	"00399365"	"1"	""	"00006"	"{PMID:Kuht 2020:32744312}"	"brother"	"M"	"no"	"Korea"	""	"0"	""	""	""	"F5:II-2"
"00401191"	""	""	""	"3"	""	"00006"	"{PMID:Ehrenberg 2021:33594928}"	"family, 3 affected sibs"	"M"	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"FamPat25"
"00401192"	""	""	"00401191"	"1"	""	"00006"	"{PMID:Ehrenberg 2021:33594928}"	"sib"	"F"	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"FamPat26"
"00401193"	""	""	"00401191"	"1"	""	"00006"	"{PMID:Ehrenberg 2021:33594928}"	"sib"	"M"	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"FamPat27"
"00434217"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	"M"	""	""	""	"0"	""	""	""	"Fam46PatI"
"00434254"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Fam10282"
"00434255"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Fam18284"
"00434256"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	""	""	""	""	"0"	""	""	""	"Fam26131"
"00444257"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat16"
"00444258"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat17"
"00444259"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat18"
"00444260"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat19"
"00444261"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat20"
"00444262"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat21"
"00444263"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat22"
"00444264"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat23"
"00444265"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat24"
"00444266"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat25"
"00444267"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat26"
"00444268"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat27"
"00444269"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat28"
"00444270"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat29"
"00444271"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat30"
"00444272"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat31"
"00444273"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat32"
"00444274"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat33"
"00444275"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat34"
"00444276"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat35"
"00444277"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat36"
"00444278"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat37"
"00447215"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"NYS-19"
"00460682"	""	""	""	"1"	""	"00006"	"{PMID:Mai 2024:39575648}"	"2-generation family, 1 affected"	"M"	""	"China"	""	"0"	""	""	""	"Pat1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 86
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00035871"	"02253"
"00050453"	"00198"
"00088176"	"02253"
"00088178"	"02253"
"00088182"	"02253"
"00173108"	"00187"
"00173109"	"00187"
"00173110"	"00187"
"00173111"	"00187"
"00173112"	"00187"
"00173113"	"00187"
"00173114"	"00187"
"00183319"	"00296"
"00294936"	"00198"
"00305267"	"00198"
"00311040"	"00198"
"00320076"	"02253"
"00324433"	"02253"
"00332405"	"04214"
"00332406"	"04214"
"00379746"	"04214"
"00379807"	"04214"
"00379839"	"04214"
"00382169"	"00198"
"00382170"	"00198"
"00382171"	"00198"
"00382172"	"00198"
"00382173"	"00198"
"00382174"	"00198"
"00382175"	"00198"
"00382176"	"00198"
"00382177"	"00198"
"00382178"	"00198"
"00382179"	"00198"
"00382180"	"00198"
"00382181"	"00198"
"00382182"	"00198"
"00382183"	"00198"
"00382184"	"00198"
"00382185"	"00198"
"00382186"	"00198"
"00382187"	"00198"
"00382188"	"00198"
"00382189"	"00198"
"00382190"	"00198"
"00383283"	"05969"
"00384258"	"02253"
"00384294"	"02253"
"00384309"	"02253"
"00384374"	"02253"
"00393607"	"04214"
"00399365"	"00293"
"00399366"	"00293"
"00401191"	"00198"
"00401192"	"00198"
"00401193"	"00198"
"00434217"	"00198"
"00434254"	"00198"
"00434255"	"00198"
"00434256"	"00198"
"00444257"	"04214"
"00444258"	"04214"
"00444259"	"04214"
"00444260"	"04214"
"00444261"	"04214"
"00444262"	"04214"
"00444263"	"04214"
"00444264"	"04214"
"00444265"	"04214"
"00444266"	"04214"
"00444267"	"04214"
"00444268"	"04214"
"00444269"	"04214"
"00444270"	"04214"
"00444271"	"04214"
"00444272"	"04214"
"00444273"	"04214"
"00444274"	"04214"
"00444275"	"04214"
"00444276"	"04214"
"00444277"	"04214"
"00444278"	"04214"
"00447215"	"00198"
"00460682"	"05324"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00293, 00296, 01157, 02253, 04214, 05324, 05969
## Count = 83
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{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}}"
"0000037065"	"00198"	"00050453"	"00006"	"Unknown"	""	"congenital nystagmus, cerebral palsy, seizures, low-set ears"	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000067643"	"02253"	"00088176"	"01823"	"Familial, X-linked"	""	"BCVA - 0.2 LogMAR\r\nHorizontal Jerk nystagmus"	""	""	""	""	""	""	""	""	""	""	""	""
"0000067645"	"02253"	"00088178"	"01823"	"Familial, X-linked"	""	"BCVA 0.18 LogMAR\r\nHorizontal Jerk with periodic alternating nystagmus"	""	""	""	""	""	""	""	""	""	""	""	""
"0000067648"	"02253"	"00088182"	"01823"	"Familial, X-linked"	""	"BCVA 0.18\r\nHorizontal jerk nystagmus"	""	""	""	""	""	""	""	""	""	""	""	""
"0000067721"	"02253"	"00035871"	"01164"	"Familial, X-linked"	""	"congenital nystagmus"	""	""	""	""	""	""	""	""	""	""	""	""
"0000137972"	"00187"	"00173108"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137973"	"00187"	"00173109"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137974"	"00187"	"00173110"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137975"	"00187"	"00173111"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137976"	"00187"	"00173112"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137977"	"00187"	"00173113"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137978"	"00187"	"00173114"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000144056"	"00296"	"00183319"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., infantile or early-childhood cataracts and visual impairment"	""	""	""	""	""	""	""	""	""	""	"infantile cataract"	""
"0000236304"	"00198"	"00311040"	"01807"	"Unknown"	""	"Nystagmus (HP:0000639)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000242121"	"02253"	"00320076"	"01164"	"Unknown"	""	"Congenital nystagmus, possible foveal hypoplasia"	""	""	""	""	""	""	""	""	""	""	"1y"	""
"0000242975"	"02253"	"00324433"	"01823"	"Familial, X-linked"	"10y"	"Reduced VA (0.425 logmar BE), Nystagmus, grade 1 foveal hypoplasia,"	""	""	"10y"	"<6m"	""	""	""	""	""	"FRMD7 related infantile nystagmus"	"10y"	""
"0000250591"	"04214"	"00332405"	"00000"	"Unknown"	"33y1m"	"horizontal jerk nystagmus; fundus grossly normal; no oculodigital sign"	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	"idiopathic infantile nystagmus"	""
"0000250592"	"04214"	"00332406"	"00000"	"Unknown"	"2y5m"	"horizontal pendular nystagmus; fundus grossly normal; no oculodigital sign"	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	"idiopathic infantile nystagmus"	""
"0000273693"	"04214"	"00379839"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Congnital stationary night blindness"	""
"0000274274"	"04214"	"00379746"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037, HP:0000639, HP:0000007, HP:0007750"	""	""	""	""	""	""	""	""	""	""	"SLC38A8 foveal hypoplasia"	""
"0000274277"	"04214"	"00379807"	"03508"	"Familial, X-linked recessive"	""	"HP:0032037, HP:0000639"	""	""	""	""	""	""	""	""	""	""	"Infantile nystagmus"	""
"0000276018"	"00198"	"00382169"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276019"	"00198"	"00382170"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276020"	"00198"	"00382171"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276021"	"00198"	"00382172"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276022"	"00198"	"00382173"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276023"	"00198"	"00382174"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276024"	"00198"	"00382175"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276025"	"00198"	"00382176"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276026"	"00198"	"00382177"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276027"	"00198"	"00382178"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276028"	"00198"	"00382179"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276029"	"00198"	"00382180"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276030"	"00198"	"00382181"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276598"	"00198"	"00382182"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276600"	"00198"	"00382183"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276603"	"00198"	"00382184"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276604"	"00198"	"00382185"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276605"	"00198"	"00382186"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276606"	"00198"	"00382187"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276607"	"00198"	"00382188"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276608"	"00198"	"00382189"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000276609"	"00198"	"00382190"	"03508"	"Familial, X-linked dominant"	""	"HP:0001423, HP:0006934"	""	""	""	""	""	""	""	""	""	""	"infantile nystagmus"	""
"0000278043"	"02253"	"00384258"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital motor nystagmus"	""
"0000278079"	"02253"	"00384294"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital motor nystagmus"	""
"0000278094"	"02253"	"00384309"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital motor nystagmus"	""
"0000278159"	"02253"	"00384374"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital motor nystagmus"	""
"0000286813"	"04214"	"00393607"	"00000"	"Isolated (sporadic)"	"5y"	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness (CSNB)"	""
"0000292476"	"00293"	"00399365"	"00006"	"Familial, autosomal recessive"	""	"foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)"	""	""	""	""	""	""	""	""	""	"FVH2"	""	""
"0000292477"	"00293"	"00399366"	"00006"	"Familial, autosomal recessive"	""	"foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)"	""	""	""	""	""	""	""	""	""	"FVH2"	""	""
"0000294234"	"00198"	"00401191"	"00006"	"Familial, X-linked"	"12y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"NYS1"	""	""
"0000294235"	"00198"	"00401192"	"00006"	"Familial, X-linked"	"9y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"NYS1"	""	""
"0000294236"	"00198"	"00401193"	"00006"	"Familial, X-linked"	"3y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"NYS1"	""	""
"0000324575"	"00198"	"00434217"	"00006"	"Familial, X-linked recessive"	"11y"	"pendular nystagmus; hypermetropia; astigmatism"	""	""	""	""	""	""	""	""	""	"NYS1"	"X-linked congenital nystagmus"	""
"0000324612"	"00198"	"00434254"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	"NYS1"	"nystagmus"	""
"0000324613"	"00198"	"00434255"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	"NYS1"	"nystagmus"	""
"0000324614"	"00198"	"00434256"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	"NYS1"	"nystagmus"	""
"0000333510"	"04214"	"00444257"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333511"	"04214"	"00444258"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333512"	"04214"	"00444259"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333513"	"04214"	"00444260"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333514"	"04214"	"00444261"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333515"	"04214"	"00444262"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333516"	"04214"	"00444263"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333517"	"04214"	"00444264"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333518"	"04214"	"00444265"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333519"	"04214"	"00444266"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333520"	"04214"	"00444267"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333521"	"04214"	"00444268"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333522"	"04214"	"00444269"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333523"	"04214"	"00444270"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333524"	"04214"	"00444271"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333525"	"04214"	"00444272"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333526"	"04214"	"00444273"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333527"	"04214"	"00444274"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333528"	"04214"	"00444275"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333529"	"04214"	"00444276"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333530"	"04214"	"00444277"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000333531"	"04214"	"00444278"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"idiopathic infantile nystagmus"	""
"0000336414"	"00198"	"00447215"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"nystagmus"	""
"0000348363"	"05324"	"00460682"	"00006"	"Unknown"	"06y"	"see paper; ..., 3y-elevated muscle enzymes levels, CK level 7000‐33568 IU/L; 7m-crawl, 1y-walk, run/jump as peers"	"03y"	""	""	""	"IHC 5y3m-no DMD"	""	""	""	""	"DMD"	"Duchenne muscular dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 90
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000035941"	"00035871"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035942"	"00035872"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035943"	"00035873"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035944"	"00035874"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035945"	"00035875"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000050398"	"00050453"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000088320"	"00088176"	"1"	"01823"	"01823"	"2016-11-24 11:48:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000088322"	"00088178"	"1"	"01823"	"01823"	"2016-11-24 12:06:10"	""	""	"SEQ-NG"	"DNA"	""	""
"0000088325"	"00088182"	"1"	"01823"	"01823"	"2016-11-24 12:34:07"	"00006"	"2016-12-05 12:56:46"	"SEQ-NG"	"DNA"	""	""
"0000173991"	"00173108"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000173992"	"00173109"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000173993"	"00173110"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000173994"	"00173111"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000173995"	"00173112"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000173996"	"00173113"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000173997"	"00173114"	"1"	"00124"	"00006"	"2009-11-10 15:10:19"	"00006"	"2010-10-24 20:36:56"	"SEQ"	"DNA"	""	""
"0000184280"	"00183319"	"1"	"00006"	"00006"	"2018-10-22 18:46:20"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000296104"	"00294936"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306396"	"00305267"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000312192"	"00311040"	"1"	"01807"	"01807"	"2020-09-14 10:39:01"	""	""	"SEQ"	"DNA"	""	""
"0000321261"	"00320076"	"1"	"01164"	"01164"	"2020-11-23 13:29:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000325624"	"00324433"	"1"	"01823"	"01823"	"2020-12-12 12:04:47"	""	""	"MLPA;PCR;SEQ-NG"	"DNA"	""	""
"0000333629"	"00332405"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333630"	"00332406"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000380947"	"00379746"	"1"	"03508"	"03508"	"2021-08-09 03:49:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381041"	"00379839"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381137"	"00379807"	"1"	"03508"	"03508"	"2021-08-10 08:09:42"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383383"	"00382169"	"1"	"03508"	"03508"	"2021-09-09 07:17:30"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383384"	"00382170"	"1"	"03508"	"03508"	"2021-09-09 07:28:37"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383385"	"00382171"	"1"	"03508"	"03508"	"2021-09-09 07:47:55"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383386"	"00382172"	"1"	"03508"	"03508"	"2021-09-09 07:54:52"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383387"	"00382173"	"1"	"03508"	"03508"	"2021-09-09 08:17:08"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383388"	"00382174"	"1"	"03508"	"03508"	"2021-09-09 08:21:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383389"	"00382175"	"1"	"03508"	"03508"	"2021-09-09 08:23:37"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383390"	"00382176"	"1"	"03508"	"03508"	"2021-09-09 08:28:55"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383391"	"00382177"	"1"	"03508"	"03508"	"2021-09-09 08:32:18"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383392"	"00382178"	"1"	"03508"	"03508"	"2021-09-09 08:36:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383393"	"00382179"	"1"	"03508"	"03508"	"2021-09-09 08:39:25"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383394"	"00382180"	"1"	"03508"	"03508"	"2021-09-09 08:42:45"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383395"	"00382181"	"1"	"03508"	"03508"	"2021-09-09 08:47:46"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383396"	"00382182"	"1"	"03508"	"03508"	"2021-09-09 10:59:11"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383397"	"00382183"	"1"	"03508"	"03508"	"2021-09-09 11:02:05"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383398"	"00382184"	"1"	"03508"	"03508"	"2021-09-09 11:04:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383399"	"00382185"	"1"	"03508"	"03508"	"2021-09-09 11:06:11"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383400"	"00382186"	"1"	"03508"	"03508"	"2021-09-09 11:08:10"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383401"	"00382187"	"1"	"03508"	"03508"	"2021-09-09 11:10:10"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383402"	"00382188"	"1"	"03508"	"03508"	"2021-09-09 11:12:49"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383403"	"00382189"	"1"	"03508"	"03508"	"2021-09-09 11:14:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383404"	"00382190"	"1"	"03508"	"03508"	"2021-09-09 11:16:52"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000384507"	"00383283"	"1"	"00227"	"00227"	"2021-09-29 04:13:39"	""	""	"SEQ"	"DNA"	""	""
"0000385483"	"00384258"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385519"	"00384294"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385534"	"00384309"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385599"	"00384374"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000394855"	"00393607"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000400608"	"00399365"	"1"	"00006"	"00006"	"2022-01-19 22:05:08"	""	""	"SEQ-NG"	"DNA"	"Cheek cells"	""
"0000400609"	"00399366"	"1"	"00006"	"00006"	"2022-01-19 22:05:08"	""	""	"SEQ-NG"	"DNA"	"Cheek cells"	""
"0000402435"	"00401191"	"1"	"00006"	"00006"	"2022-01-28 14:50:52"	""	""	"SEQ"	"DNA"	""	""
"0000402436"	"00401192"	"1"	"00006"	"00006"	"2022-01-28 14:50:52"	""	""	"SEQ"	"DNA"	""	""
"0000402437"	"00401193"	"1"	"00006"	"00006"	"2022-01-28 14:50:52"	""	""	"SEQ"	"DNA"	""	""
"0000435685"	"00434217"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000435722"	"00434254"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000435723"	"00434255"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000435724"	"00434256"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000445831"	"00444257"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445832"	"00444258"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445833"	"00444259"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445834"	"00444260"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445835"	"00444261"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445836"	"00444262"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445837"	"00444263"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445838"	"00444264"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445839"	"00444265"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445840"	"00444266"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445841"	"00444267"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445842"	"00444268"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445843"	"00444269"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445844"	"00444270"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445845"	"00444271"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445846"	"00444272"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445847"	"00444273"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445848"	"00444274"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445849"	"00444275"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445850"	"00444276"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445851"	"00444277"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000445852"	"00444278"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000448792"	"00447215"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000462314"	"00460682"	"1"	"00006"	"00006"	"2025-01-29 13:48:00"	""	""	"OM"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 29
"{{screeningid}}"	"{{geneid}}"
"0000035941"	"FRMD7"
"0000035942"	"FRMD7"
"0000035943"	"FRMD7"
"0000035944"	"FRMD7"
"0000035945"	"FRMD7"
"0000050398"	"FRMD7"
"0000088325"	"FRMD7"
"0000173991"	"FRMD7"
"0000173992"	"FRMD7"
"0000173993"	"RNF128"
"0000173994"	"NHS"
"0000173995"	"NHS"
"0000173996"	"NHS"
"0000173997"	"NHS"
"0000184280"	"DNMBP"
"0000321261"	"FRMD7"
"0000333629"	"FRMD7"
"0000333630"	"FRMD7"
"0000381041"	"FRMD7"
"0000384507"	"FRMD7"
"0000385483"	"FRMD7"
"0000385519"	"FRMD7"
"0000385534"	"FRMD7"
"0000385599"	"FRMD7"
"0000394855"	"FRMD7"
"0000400608"	"SLC38A8"
"0000400609"	"SLC38A8"
"0000462314"	"DMD"
"0000462314"	"FRMD7"


## 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}}"
"0000003238"	"0"	"30"	"X"	"131231430"	"131231431"	"del"	"0"	"00037"	"FRMD7_000013"	"g.131231430_131231431del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.132097402_132097403del"	""	"likely benign"	""
"0000007655"	"20"	"30"	"X"	"131220194"	"131220194"	"subst"	"0"	"00037"	"FRMD7_000012"	"g.131220194C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.132086166C>T"	""	"likely benign"	""
"0000009795"	"20"	"30"	"X"	"131220194"	"131220194"	"subst"	"0"	"00037"	"FRMD7_000012"	"g.131220194C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.132086166C>T"	""	"likely benign"	""
"0000063066"	"1"	"70"	"X"	"131261815"	"131261815"	"subst"	"0"	"01164"	"FRMD7_000014"	"g.131261815C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.132127787C>T"	""	"likely pathogenic"	""
"0000063067"	"1"	"10"	"X"	"131212642"	"131212642"	"subst"	"0.0559423"	"01164"	"FRMD7_000003"	"g.131212642C>T"	""	""	""	""	""	"Germline"	""	"rs6637934"	"0"	""	""	"g.132078614C>T"	""	"benign"	""
"0000063068"	"1"	"10"	"X"	"131220073"	"131220073"	"subst"	"0.0301864"	"01164"	"FRMD7_000009"	"g.131220073G>A"	""	""	""	""	""	"Germline"	""	"rs56029310"	"0"	""	""	"g.132086045G>A"	""	"benign"	""
"0000063069"	"1"	"10"	"X"	"131234733"	"131234733"	"subst"	"0.0844724"	"01164"	"FRMD7_000005"	"g.131234733G>A"	""	""	""	""	""	"Germline"	""	"rs5930546"	"0"	""	""	"g.132100705G>A"	""	"benign"	""
"0000063070"	"1"	"90"	"X"	"131219659"	"131219659"	"del"	"0"	"01164"	"FRMD7_000008"	"g.131219659del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.132085631del"	""	"pathogenic"	""
"0000079378"	"21"	"90"	"X"	"131216472"	"131216472"	"subst"	"0"	"00006"	"FRMD7_000011"	"g.131216472T>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082444T>C"	""	"pathogenic"	""
"0000145986"	"1"	"70"	"X"	"131216500"	"131216500"	"subst"	"0"	"01823"	"FRMD7_000015"	"g.131216500C>G"	""	"{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.132082472C>G"	""	"likely pathogenic (dominant)"	""
"0000145988"	"1"	"90"	"X"	"131212785"	"131212785"	"del"	"0"	"01823"	"FRMD7_000010"	"g.131212785del"	""	"{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.132078757del"	""	"pathogenic (dominant)"	""
"0000148338"	"21"	"90"	"X"	"131211021"	"131234745"	"del"	"0"	"01823"	"FRMD7_000016"	"g.(?_131211021)_(131234745_131261815)del"	""	"{PMID:Thomas 2017:28378818}, {DOI:Thomas 2017:10.1038/ejhg.2017.44}"	""	"(235+1_236-1)_(*3202_?)del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000248736"	"0"	"10"	"X"	"131212512"	"131212512"	"subst"	"0.259548"	"02325"	"FRMD7_000022"	"g.131212512A>G"	""	""	""	"FRMD7(NM_194277.3):c.1533T>C (p.I511=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132078484A>G"	""	"benign"	""
"0000276903"	"0"	"10"	"X"	"131233980"	"131233980"	"subst"	"0"	"02330"	"FRMD7_000034"	"g.131233980C>T"	""	""	""	"FRMD7(NM_194277.3):c.163-442G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132099952C>T"	""	"benign"	""
"0000276904"	"0"	"10"	"X"	"131220194"	"131220194"	"subst"	"0"	"02330"	"FRMD7_000012"	"g.131220194C>T"	""	""	""	"FRMD7(NM_194277.3):c.383-132G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132086166C>T"	""	"benign"	""
"0000284430"	"0"	"90"	"X"	"131214290"	"131214290"	"subst"	"5.60783E-6"	"02326"	"FRMD7_000025"	"g.131214290G>A"	""	""	""	"FRMD7(NM_194277.2):c.910C>T (p.R304*), FRMD7(NM_194277.3):c.910C>T (p.R304*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132080262G>A"	""	"pathogenic"	""
"0000287936"	"0"	"30"	"X"	"131212487"	"131212487"	"subst"	"0.00200324"	"01943"	"FRMD7_000021"	"g.131212487G>C"	""	""	""	"FRMD7(NM_194277.2):c.1558C>G (p.H520D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132078459G>C"	""	"likely benign"	""
"0000287937"	"0"	"30"	"X"	"131212294"	"131212294"	"subst"	"1.12361E-5"	"01943"	"FRMD7_000019"	"g.131212294T>C"	""	""	""	"FRMD7(NM_194277.2):c.1751A>G (p.E584G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132078266T>C"	""	"likely benign"	""
"0000287938"	"0"	"10"	"X"	"131211958"	"131211958"	"subst"	"0"	"01943"	"FRMD7_000018"	"g.131211958T>C"	""	""	""	"FRMD7(NM_194277.2):c.2087A>G (p.N696S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132077930T>C"	""	"benign"	""
"0000287939"	"0"	"50"	"X"	"131231322"	"131231322"	"subst"	"0"	"01943"	"FRMD7_000033"	"g.131231322G>A"	""	""	""	"FRMD7(NM_194277.2):c.256C>T (p.P86S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132097294G>A"	""	"VUS"	""
"0000287940"	"0"	"30"	"X"	"131216452"	"131216452"	"subst"	"0"	"01943"	"FRMD7_000029"	"g.131216452C>T"	""	""	""	"FRMD7(NM_194277.2):c.844G>A (p.E282K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132082424C>T"	""	"likely benign"	""
"0000287941"	"0"	"50"	"X"	"131216397"	"131216397"	"subst"	"1.12023E-5"	"01943"	"FRMD7_000027"	"g.131216397C>T"	""	""	""	"FRMD7(NM_194277.2):c.899G>A (p.R300H), FRMD7(NM_194277.3):c.899G>A (p.R300H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132082369C>T"	""	"VUS"	""
"0000335544"	"0"	"50"	"X"	"131211932"	"131211932"	"subst"	"0"	"01804"	"FRMD7_000017"	"g.131211932A>G"	""	""	""	"FRMD7(NM_194277.2):c.2113T>C (p.(Ser705Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132077904A>G"	""	"VUS"	""
"0000335545"	"0"	"50"	"X"	"131212428"	"131212428"	"subst"	"5.60985E-6"	"01804"	"FRMD7_000020"	"g.131212428T>G"	""	""	""	"FRMD7(NM_194277.2):c.1617A>C (p.(Arg539Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132078400T>G"	""	"VUS"	""
"0000335546"	"0"	"50"	"X"	"131212514"	"131212514"	"subst"	"0.000224505"	"01804"	"FRMD7_000023"	"g.131212514T>C"	""	""	""	"FRMD7(NM_194277.2):c.1531A>G (p.I511V, p.(Ile511Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132078486T>C"	""	"VUS"	""
"0000335547"	"0"	"50"	"X"	"131212572"	"131212572"	"subst"	"0.00611992"	"01804"	"FRMD7_000024"	"g.131212572C>A"	""	""	""	"FRMD7(NM_194277.2):c.1473G>T (p.M491I, p.(Met491Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132078544C>A"	""	"VUS"	""
"0000335549"	"0"	"50"	"X"	"131216404"	"131216404"	"subst"	"5.0401E-5"	"01804"	"FRMD7_000028"	"g.131216404T>C"	""	""	""	"FRMD7(NM_194277.2):c.892A>G (p.S298G, p.(Ser298Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132082376T>C"	""	"VUS"	""
"0000335551"	"0"	"50"	"X"	"131231288"	"131231288"	"subst"	"0.000257324"	"01804"	"FRMD7_000031"	"g.131231288C>T"	""	""	""	"FRMD7(NM_194277.2):c.284+6G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132097260C>T"	""	"VUS"	""
"0000335553"	"0"	"50"	"X"	"131231298"	"131231298"	"subst"	"0"	"01804"	"FRMD7_000032"	"g.131231298T>G"	""	""	""	"FRMD7(NM_194277.2):c.280A>C (p.(Thr94Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132097270T>G"	""	"VUS"	""
"0000347996"	"0"	"50"	"X"	"131218561"	"131218561"	"subst"	"0"	"02327"	"FRMD7_000035"	"g.131218561A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132084533A>G"	""	"VUS"	""
"0000394308"	"1"	"50"	"X"	"131212944"	"131212944"	"subst"	"0.068694"	"00124"	"FRMD7_000038"	"g.131212944A>G"	"16/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"N367N"	"recurrent, found 16 times"	"Germline"	""	""	"0"	""	""	"g.132078916A>G"	""	"VUS"	""
"0000394309"	"1"	"50"	"X"	"131212642"	"131212642"	"subst"	"0.0559423"	"00124"	"FRMD7_000003"	"g.131212642C>T"	"15/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"R468H"	"recurrent, found 15 times"	"Germline"	""	""	"0"	""	""	"g.132078614C>T"	""	"VUS"	""
"0000394310"	"1"	"50"	"X"	"131212571"	"131212571"	"subst"	"5.05326E-5"	"00124"	"FRMD7_000037"	"g.131212571G>A"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"P492S"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.132078543G>A"	""	"VUS"	""
"0000394311"	"1"	"50"	"X"	"131212518"	"131212518"	"subst"	"7.85868E-5"	"00124"	"FRMD7_000036"	"g.131212518G>A"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"S509S"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.132078490G>A"	""	"VUS"	""
"0000394312"	"1"	"50"	"X"	"131212512"	"131212512"	"subst"	"0.259548"	"00124"	"FRMD7_000022"	"g.131212512A>G"	"61/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"I511I"	"recurrent, found 61 times"	"Germline"	""	""	"0"	""	""	"g.132078484A>G"	""	"VUS"	""
"0000394313"	"1"	"50"	"X"	"131234733"	"131234733"	"subst"	"0.0844724"	"00124"	"FRMD7_000005"	"g.131234733G>A"	"19/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"S23S"	"recurrent, found 19 times"	"Germline"	""	""	"0"	""	""	"g.132100705G>A"	""	"VUS"	""
"0000394314"	"1"	"50"	"X"	"131216454"	"131216454"	"subst"	"0.0438595"	"00124"	"FRMD7_000039"	"g.131216454G>A"	"9/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"S281L"	"recurrent, found 9 times"	"Germline"	""	""	"0"	""	""	"g.132082426G>A"	""	"VUS"	""
"0000408298"	"3"	"70"	"X"	"131220057"	"131220057"	"subst"	"8.96574E-5"	"00006"	"FRMD7_000040"	"g.131220057G>A"	""	"{PMID:Ansar 2018:30290152}"	""	""	"variant not associated with cataract phenotype"	"Germline"	""	""	"0"	""	""	"g.132086029G>A"	""	"VUS"	""
"0000573560"	"0"	"30"	"X"	"131212012"	"131212012"	"subst"	"4.49123E-5"	"02330"	"FRMD7_000041"	"g.131212012C>T"	""	""	""	"FRMD7(NM_194277.3):c.2033G>A (p.R678H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132077984C>T"	""	"likely benign"	""
"0000573561"	"0"	"30"	"X"	"131212069"	"131212069"	"subst"	"2.80697E-5"	"01943"	"FRMD7_000042"	"g.131212069T>A"	""	""	""	"FRMD7(NM_194277.2):c.1976A>T (p.K659I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078041T>A"	""	"likely benign"	""
"0000573562"	"0"	"30"	"X"	"131212402"	"131212402"	"subst"	"6.7337E-5"	"01943"	"FRMD7_000043"	"g.131212402T>G"	""	""	""	"FRMD7(NM_194277.2):c.1643A>C (p.Q548P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078374T>G"	""	"likely benign"	""
"0000573563"	"0"	"70"	"X"	"131212415"	"131212415"	"subst"	"0"	"02327"	"FRMD7_000044"	"g.131212415G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078387G>A"	""	"likely pathogenic"	""
"0000573564"	"0"	"30"	"X"	"131212501"	"131212501"	"subst"	"1.68347E-5"	"01804"	"FRMD7_000045"	"g.131212501T>G"	""	""	""	"FRMD7(NM_194277.2):c.1544A>C (p.(Glu515Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078473T>G"	""	"likely benign"	""
"0000573565"	"0"	"50"	"X"	"131212540"	"131212540"	"subst"	"0.000123535"	"01943"	"FRMD7_000046"	"g.131212540G>A"	""	""	""	"FRMD7(NM_194277.2):c.1505C>T (p.P502L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078512G>A"	""	"VUS"	""
"0000573566"	"0"	"30"	"X"	"131212571"	"131212571"	"subst"	"5.05326E-5"	"01804"	"FRMD7_000037"	"g.131212571G>A"	""	""	""	"FRMD7(NM_194277.2):c.1474C>T (p.(Pro492Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078543G>A"	""	"likely benign"	""
"0000573567"	"0"	"10"	"X"	"131212572"	"131212572"	"subst"	"0.00611992"	"01943"	"FRMD7_000024"	"g.131212572C>A"	""	""	""	"FRMD7(NM_194277.2):c.1473G>T (p.M491I, p.(Met491Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078544C>A"	""	"benign"	""
"0000573568"	"0"	"30"	"X"	"131212658"	"131212658"	"subst"	"3.36853E-5"	"01804"	"FRMD7_000047"	"g.131212658G>A"	""	""	""	"FRMD7(NM_194277.2):c.1387C>T (p.(Leu463Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078630G>A"	""	"likely benign"	""
"0000573569"	"0"	"30"	"X"	"131212671"	"131212671"	"subst"	"5.05368E-5"	"01943"	"FRMD7_000048"	"g.131212671G>A"	""	""	""	"FRMD7(NM_194277.2):c.1374C>T (p.S458=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078643G>A"	""	"likely benign"	""
"0000573570"	"0"	"30"	"X"	"131212682"	"131212682"	"subst"	"5.61653E-6"	"01943"	"FRMD7_000049"	"g.131212682T>C"	""	""	""	"FRMD7(NM_194277.2):c.1363A>G (p.N455D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078654T>C"	""	"likely benign"	""
"0000573571"	"0"	"50"	"X"	"131216398"	"131216398"	"subst"	"0.000229629"	"01943"	"FRMD7_000050"	"g.131216398G>A"	""	""	""	"FRMD7(NM_194277.2):c.898C>T (p.R300C, p.(Arg300Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132082370G>A"	""	"VUS"	""
"0000573572"	"0"	"30"	"X"	"131216398"	"131216398"	"subst"	"0.000229629"	"01804"	"FRMD7_000050"	"g.131216398G>A"	""	""	""	"FRMD7(NM_194277.2):c.898C>T (p.R300C, p.(Arg300Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132082370G>A"	""	"likely benign"	""
"0000573574"	"0"	"50"	"X"	"131219649"	"131219649"	"subst"	"0"	"02329"	"FRMD7_000051"	"g.131219649A>C"	""	""	""	"FRMD7(NM_194277.3):c.605T>G (p.I202S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132085621A>C"	""	"VUS"	""
"0000573575"	"0"	"50"	"X"	"131219687"	"131219687"	"subst"	"2.24168E-5"	"01943"	"FRMD7_000030"	"g.131219687G>C"	""	""	""	"FRMD7(NM_194277.2):c.567C>G (p.I189M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132085659G>C"	""	"VUS"	""
"0000573576"	"0"	"30"	"X"	"131220057"	"131220057"	"subst"	"8.96574E-5"	"01943"	"FRMD7_000040"	"g.131220057G>A"	""	""	""	"FRMD7(NM_194277.2):c.388C>T (p.L130F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132086029G>A"	""	"likely benign"	""
"0000573577"	"0"	"30"	"X"	"131231360"	"131231360"	"subst"	"1.11871E-5"	"01804"	"FRMD7_000052"	"g.131231360A>G"	""	""	""	"FRMD7(NM_194277.2):c.218T>C (p.(Ile73Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132097332A>G"	""	"likely benign"	""
"0000619008"	"0"	"30"	"X"	"131212828"	"131212828"	"subst"	"0"	"01943"	"FRMD7_000053"	"g.131212828T>G"	""	""	""	"FRMD7(NM_194277.2):c.1217A>C (p.H406P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078800T>G"	""	"likely benign"	""
"0000652793"	"1"	"30"	"X"	"131216454"	"131216454"	"subst"	"0.0438595"	"03575"	"FRMD7_000039"	"g.131216454G>A"	"55/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"55 heterozygous; {DB:CLININrs5977625}"	"Germline"	""	"rs5977625"	"0"	""	""	"g.132082426G>A"	""	"likely benign"	""
"0000659092"	"0"	"30"	"X"	"131212670"	"131212670"	"subst"	"0"	"01943"	"FRMD7_000054"	"g.131212670T>G"	""	""	""	"FRMD7(NM_194277.2):c.1375A>C (p.I459L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132078642T>G"	""	"likely benign"	""
"0000670084"	"0"	"30"	"X"	"131216454"	"131216454"	"subst"	"0.0438595"	"03575"	"FRMD7_000039"	"g.131216454G>A"	"29/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"29 homozygous; {DB:CLININrs5977625}"	"Germline"	""	"rs5977625"	"0"	""	""	"g.132082426G>A"	""	"likely benign"	""
"0000682097"	"0"	"30"	"X"	"131212370"	"131212370"	"subst"	"0.000190935"	"01943"	"FRMD7_000055"	"g.131212370C>T"	""	""	""	"FRMD7(NM_194277.2):c.1675G>A (p.G559S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682098"	"0"	"30"	"X"	"131212515"	"131212515"	"subst"	"1.68378E-5"	"01943"	"FRMD7_000056"	"g.131212515T>G"	""	""	""	"FRMD7(NM_194277.2):c.1530A>C (p.P510=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682099"	"0"	"50"	"X"	"131219995"	"131219995"	"subst"	"8.95631E-5"	"01943"	"FRMD7_000057"	"g.131219995G>T"	""	""	""	"FRMD7(NM_194277.2):c.450C>A (p.N150K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687748"	"0"	"90"	"X"	"131216515"	"131216515"	"subst"	"0"	"01807"	"FRMD7_000060"	"g.131216515G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000693350"	"0"	"50"	"X"	"131212087"	"131212087"	"subst"	"0"	"01943"	"FRMD7_000058"	"g.131212087G>A"	""	""	""	"FRMD7(NM_194277.2):c.1958C>T (p.S653F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000693351"	"0"	"30"	"X"	"131216453"	"131216453"	"subst"	"0.000140043"	"01943"	"FRMD7_000059"	"g.131216453C>T"	""	""	""	"FRMD7(NM_194277.2):c.843G>A (p.S281=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693352"	"0"	"30"	"X"	"131231368"	"131231368"	"subst"	"0.000257315"	"01943"	"FRMD7_000061"	"g.131231368A>G"	""	""	""	"FRMD7(NM_194277.2):c.210T>C (p.P70=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000704080"	"3"	"70"	"X"	"131234732"	"131234732"	"subst"	"0"	"01164"	"FRMD7_000062"	"g.131234732C>T"	""	"PMID: 18431453, 22490987, 17768376, 25678693"	""	""	"ACMG: PS4_moderat, PM2, PP1, PM3 class 3 X-linked"	"Germline"	"?"	""	""	""	""	""	""	"pathogenic (!)"	"ACMG"
"0000708750"	"21"	"90"	"X"	"131211021"	"131234745"	"del"	"0"	"01823"	"FRMD7_000016"	"g.(?_131211021)_(131234745_131261815)del"	""	""	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000728430"	"0"	"50"	"X"	"131212514"	"131212514"	"subst"	"0.000224505"	"01943"	"FRMD7_000023"	"g.131212514T>C"	""	""	""	"FRMD7(NM_194277.2):c.1531A>G (p.I511V, p.(Ile511Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728431"	"0"	"30"	"X"	"131231288"	"131231288"	"subst"	"0.000257324"	"01943"	"FRMD7_000031"	"g.131231288C>T"	""	""	""	"FRMD7(NM_194277.2):c.284+6G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000731331"	"1"	"70"	"X"	"131216395"	"131216395"	"subst"	"0"	"00000"	"FRMD7_000063"	"g.131216395A>G"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082367A>G"	""	"likely pathogenic"	""
"0000731332"	"20"	"70"	"X"	"131214290"	"131214290"	"subst"	"5.60783E-6"	"00000"	"FRMD7_000025"	"g.131214290G>A"	""	"{PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132080262G>A"	""	"likely pathogenic"	""
"0000794191"	"0"	"70"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"03508"	"FRMD7_000064"	"g.131216421A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794325"	"0"	"90"	"X"	"131212777"	"131212780"	"dup"	"0"	"00000"	"FRMD7_000066"	"g.131212777_131212780dup"	""	"{PMID:Wang 2018:30029497}"	""	"NM_194277.2:c.1266_1269dup, NP_919253.1:p.(Asn424LeufsTer2), NC_000023.10:g.131212777_131212780dup"	""	"Germline"	"?"	""	"0"	""	""	"g.132078749_132078752dup"	""	"pathogenic"	"ACMG"
"0000794465"	"0"	"70"	"X"	"131231231"	"131231231"	"subst"	"0"	"03508"	"FRMD7_000065"	"g.131231231A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797468"	"0"	"70"	"X"	"131214290"	"131214290"	"subst"	"5.60783E-6"	"03508"	"FRMD7_000025"	"g.131214290G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000797469"	"0"	"70"	"X"	"131216410"	"131216410"	"subst"	"0"	"03508"	"FRMD7_000067"	"g.131216410C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797470"	"0"	"70"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"03508"	"FRMD7_000064"	"g.131216421A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797471"	"0"	"70"	"X"	"131216395"	"131216395"	"subst"	"0"	"03508"	"FRMD7_000063"	"g.131216395A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797472"	"0"	"70"	"X"	"131218537"	"131218537"	"subst"	"0"	"03508"	"FRMD7_000076"	"g.131218537T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797473"	"0"	"70"	"X"	"131218574"	"131218574"	"subst"	"0"	"03508"	"FRMD7_000075"	"g.131218574G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797474"	"0"	"70"	"X"	"131219617"	"131219617"	"subst"	"0"	"03508"	"FRMD7_000074"	"g.131219617C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797475"	"0"	"70"	"X"	"131219679"	"131219679"	"subst"	"0"	"03508"	"FRMD7_000073"	"g.131219679T>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797476"	"0"	"70"	"X"	"131219718"	"131219718"	"del"	"0"	"03508"	"FRMD7_000072"	"g.131219718del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132085690del"	""	"pathogenic"	"ACMG"
"0000797477"	"0"	"70"	"X"	"131219719"	"131219748"	"dup"	"0"	"03508"	"FRMD7_000071"	"g.131219719_131219748dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132085691_132085720dup"	""	"VUS"	"ACMG"
"0000797478"	"0"	"70"	"X"	"131228084"	"131228084"	"subst"	"0"	"03508"	"FRMD7_000070"	"g.131228084G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797479"	"0"	"70"	"X"	"131228105"	"131228105"	"subst"	"9.56701E-5"	"03508"	"FRMD7_000069"	"g.131228105T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797480"	"0"	"70"	"X"	"131228179"	"131228179"	"subst"	"0"	"03508"	"FRMD7_000068"	"g.131228179T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000797481"	"0"	"70"	"X"	"131261872"	"131261872"	"subst"	"0"	"03508"	"FRMD7_000077"	"g.131261872T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797482"	"0"	"70"	"X"	"131212423"	"131212424"	"del"	"0"	"03508"	"FRMD7_000078"	"g.131212423_131212424del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132078395_132078396del"	""	"pathogenic"	"ACMG"
"0000797483"	"0"	"70"	"X"	"131212621"	"131212621"	"dup"	"0"	"03508"	"FRMD7_000079"	"g.131212621dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132078593dup"	""	"pathogenic"	"ACMG"
"0000797484"	"0"	"70"	"X"	"131234669"	"131234669"	"del"	"0"	"03508"	"FRMD7_000080"	"g.131234669del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132100641del"	""	"pathogenic"	"ACMG"
"0000797485"	"0"	"70"	"X"	"131212788"	"131212788"	"del"	"0"	"03508"	"FRMD7_000081"	"g.131212788del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132078760del"	""	"pathogenic"	"ACMG"
"0000797486"	"0"	"70"	"X"	"131214036"	"131214036"	"subst"	"0"	"03508"	"FRMD7_000082"	"g.131214036G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000797487"	"0"	"70"	"X"	"131214056"	"131214063"	"del"	"0"	"03508"	"FRMD7_000083"	"g.131214056_131214063del"	""	""	""	"1023_1030delAGACCTCC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132080028_132080035del"	""	"pathogenic"	"ACMG"
"0000797488"	"0"	"70"	"X"	"131214068"	"131214068"	"subst"	"0"	"03508"	"FRMD7_000084"	"g.131214068G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797489"	"0"	"70"	"X"	"131221430"	"131221430"	"subst"	"0"	"03508"	"FRMD7_000085"	"g.131221430T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000809899"	"0"	"30"	"X"	"131212157"	"131212157"	"subst"	"0"	"01943"	"FRMD7_000086"	"g.131212157G>C"	""	""	""	"FRMD7(NM_194277.2):c.1888C>G (p.Q630E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809900"	"0"	"30"	"X"	"131212298"	"131212298"	"subst"	"5.61858E-6"	"01943"	"FRMD7_000087"	"g.131212298G>C"	""	""	""	"FRMD7(NM_194277.2):c.1747C>G (p.Q583E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809901"	"0"	"30"	"X"	"131212333"	"131212333"	"subst"	"5.62009E-6"	"01943"	"FRMD7_000088"	"g.131212333T>G"	""	""	""	"FRMD7(NM_194277.2):c.1712A>C (p.D571A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809902"	"0"	"30"	"X"	"131212577"	"131212577"	"subst"	"0.000106662"	"01943"	"FRMD7_000089"	"g.131212577T>G"	""	""	""	"FRMD7(NM_194277.2):c.1468A>C (p.I490L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809903"	"0"	"70"	"X"	"131261826"	"131261826"	"subst"	"0"	"02330"	"FRMD7_000090"	"g.131261826A>G"	""	""	""	"FRMD7(NM_194277.3):c.47T>C (p.F16S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000811203"	"21"	"90"	"X"	"131214101"	"131214104"	"del"	"0"	"00227"	"FRMD7_000092"	"g.131214101_131214104del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.132080073_132080076del"	""	"pathogenic"	""
"0000812547"	"21"	"70"	"X"	"131233504"	"131233504"	"subst"	"0"	"00000"	"FRMD7_000095"	"g.131233504T>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.197T>C, p.(Gln66Arg)"	"error in annotation: c.197T>C instead of A>G, hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.132099476T>C"	""	"likely pathogenic"	""
"0000812595"	"21"	"90"	"X"	"131214066"	"131214066"	"del"	"0"	"00000"	"FRMD7_000091"	"g.131214066del"	""	"{PMID:Wang 2019:31106028}"	""	"c.1018del, p.(Ser340Hisfs*15)"	"hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.132080038del"	""	"pathogenic"	""
"0000812612"	"0"	"70"	"X"	"131214226"	"131214226"	"subst"	"0"	"00000"	"FRMD7_000093"	"g.131214226C>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.974C>A, p.(Arg325Met)"	"error in annotation: c.974C>A instead of G>T, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.132080198C>A"	""	"likely pathogenic"	""
"0000812690"	"21"	"70"	"X"	"131216524"	"131216524"	"subst"	"0"	"00000"	"FRMD7_000094"	"g.131216524T>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.772A>G, p.(Met258Val)"	"hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.132082496T>C"	""	"likely pathogenic"	""
"0000825914"	"20"	"70"	"X"	"131212776"	"131212779"	"dup"	"0"	"00000"	"FRMD7_000066"	"g.131212776_131212779dup"	""	"{PMID:Liu-2020:33090715}"	""	"c.1269_1270insCTTT"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (maternal)"	""
"0000833550"	"21"	"50"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Kuht 2020:32744312}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000833554"	"21"	"50"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Kuht 2020:32744312}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000836579"	"1"	"70"	"X"	"131261815"	"131261815"	"subst"	"0"	"00006"	"FRMD7_000014"	"g.131261815C>T"	""	"{PMID:Ehrenberg 2021:33594928}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132127787C>T"	""	"likely pathogenic"	""
"0000836580"	"1"	"70"	"X"	"131261815"	"131261815"	"subst"	"0"	"00006"	"FRMD7_000014"	"g.131261815C>T"	""	"{PMID:Ehrenberg 2021:33594928}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132127787C>T"	""	"likely pathogenic"	""
"0000836581"	"1"	"70"	"X"	"131261815"	"131261815"	"subst"	"0"	"00006"	"FRMD7_000014"	"g.131261815C>T"	""	"{PMID:Ehrenberg 2021:33594928}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132127787C>T"	""	"likely pathogenic"	""
"0000856346"	"0"	"30"	"X"	"131212142"	"131212142"	"subst"	"0"	"01943"	"FRMD7_000096"	"g.131212142C>A"	""	""	""	"FRMD7(NM_194277.2):c.1903G>T (p.V635F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856347"	"0"	"50"	"X"	"131216397"	"131216397"	"subst"	"1.12023E-5"	"02325"	"FRMD7_000027"	"g.131216397C>T"	""	""	""	"FRMD7(NM_194277.2):c.899G>A (p.R300H), FRMD7(NM_194277.3):c.899G>A (p.R300H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856348"	"0"	"50"	"X"	"131216404"	"131216404"	"subst"	"5.0401E-5"	"01943"	"FRMD7_000028"	"g.131216404T>C"	""	""	""	"FRMD7(NM_194277.2):c.892A>G (p.S298G, p.(Ser298Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856349"	"0"	"30"	"X"	"131219996"	"131219996"	"subst"	"0"	"01943"	"FRMD7_000100"	"g.131219996T>C"	""	""	""	"FRMD7(NM_194277.2):c.449A>G (p.N150S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867043"	"0"	"50"	"X"	"131216518"	"131216518"	"subst"	"0.000145679"	"01943"	"FRMD7_000097"	"g.131216518T>C"	""	""	""	"FRMD7(NM_194277.2):c.778A>G (p.S260G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867044"	"0"	"90"	"X"	"131218585"	"131218585"	"subst"	"0"	"02330"	"FRMD7_000098"	"g.131218585C>T"	""	""	""	"FRMD7(NM_194277.3):c.674G>A (p.W225*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000867045"	"0"	"30"	"X"	"131219930"	"131219930"	"subst"	"3.92407E-5"	"02330"	"FRMD7_000099"	"g.131219930C>T"	""	""	""	"FRMD7(NM_194277.3):c.497+18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895938"	"0"	"90"	"X"	"131214290"	"131214290"	"subst"	"5.60783E-6"	"02327"	"FRMD7_000025"	"g.131214290G>A"	""	""	""	"FRMD7(NM_194277.2):c.910C>T (p.R304*), FRMD7(NM_194277.3):c.910C>T (p.R304*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000921858"	"20"	"90"	"X"	"131220063"	"131220063"	"subst"	"0"	"00006"	"FRMD7_000102"	"g.131220063C>T"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132086035C>T"	""	"pathogenic (recessive)"	""
"0000921895"	"20"	"90"	"X"	"131231377"	"131231377"	"subst"	"0"	"00006"	"FRMD7_000103"	"g.131231377A>T"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132097349A>T"	""	"pathogenic (recessive)"	""
"0000921896"	"20"	"90"	"X"	"131214081"	"131214081"	"subst"	"5.60073E-6"	"00006"	"FRMD7_000101"	"g.131214081G>A"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132080053G>A"	""	"pathogenic (recessive)"	""
"0000921897"	"20"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic (recessive)"	""
"0000927261"	"0"	"90"	"X"	"131214290"	"131214290"	"subst"	"5.60783E-6"	"02330"	"FRMD7_000025"	"g.131214290G>A"	""	""	""	"FRMD7(NM_194277.2):c.910C>T (p.R304*), FRMD7(NM_194277.3):c.910C>T (p.R304*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000931338"	"0"	"70"	"X"	"131233495"	"131233495"	"del"	"0"	"02327"	"FRMD7_000104"	"g.131233495del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000954016"	"0"	"70"	"X"	"131228084"	"131228084"	"subst"	"0"	"00006"	"FRMD7_000070"	"g.131228084G>T"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132094056G>T"	""	"likely pathogenic"	""
"0000954017"	"0"	"70"	"X"	"131219679"	"131219679"	"subst"	"0"	"00006"	"FRMD7_000073"	"g.131219679T>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132085651T>G"	""	"likely pathogenic"	""
"0000954018"	"0"	"70"	"X"	"131219617"	"131219617"	"subst"	"0"	"00006"	"FRMD7_000074"	"g.131219617C>T"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132085589C>T"	""	"likely pathogenic"	""
"0000954019"	"0"	"90"	"X"	"131218574"	"131218574"	"subst"	"0"	"00006"	"FRMD7_000075"	"g.131218574G>A"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132084546G>A"	""	"pathogenic"	""
"0000954020"	"0"	"70"	"X"	"131216524"	"131216524"	"subst"	"0"	"00006"	"FRMD7_000094"	"g.131216524T>C"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082496T>C"	""	"likely pathogenic"	""
"0000954021"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954022"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954023"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954024"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954025"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954026"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954027"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954028"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954029"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954030"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954031"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954032"	"0"	"90"	"X"	"131216421"	"131216421"	"subst"	"1.67979E-5"	"00006"	"FRMD7_000064"	"g.131216421A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082393A>G"	""	"pathogenic"	""
"0000954033"	"0"	"70"	"X"	"131216410"	"131216410"	"subst"	"0"	"00006"	"FRMD7_000067"	"g.131216410C>A"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082382C>A"	""	"likely pathogenic"	""
"0000954034"	"0"	"70"	"X"	"131216395"	"131216395"	"subst"	"0"	"00006"	"FRMD7_000063"	"g.131216395A>G"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132082367A>G"	""	"likely pathogenic"	""
"0000954035"	"0"	"70"	"X"	"131214068"	"131214068"	"subst"	"0"	"00006"	"FRMD7_000084"	"g.131214068G>C"	""	"{PMID:Moon 2021:35052368}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132080040G>C"	""	"likely pathogenic"	""
"0000954036"	"0"	"90"	"X"	"131214056"	"131214063"	"del"	"0"	"00006"	"FRMD7_000083"	"g.131214056_131214063del"	""	"{PMID:Moon 2021:35052368}"	""	"1023_1030AGACCTCC"	""	"Germline"	""	""	"0"	""	""	"g.132080028_132080035del"	""	"pathogenic"	""
"0000954037"	"0"	"90"	"X"	"131228069"	"131228168"	"del"	"0"	"00006"	"FRMD7_000105"	"g.(131220063_131228069)_(131228168_131231293)del"	""	"{PMID:Moon 2021:35052368}"	""	"del ex5"	""	"Germline"	""	""	"0"	""	""	"g.(132086035_132094041)_(132094140_132097265)del"	""	"pathogenic"	""
"0000958278"	"0"	"90"	"X"	"131216515"	"131216515"	"subst"	"0"	"00006"	"FRMD7_000060"	"g.131216515G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PVS1_STRONG, PM2_MODERATE, PP5_SUPPORTING"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132082487G>A"	""	"pathogenic"	"ACMG"
"0000984454"	"0"	"30"	"X"	"131214246"	"131214246"	"subst"	"0.000336249"	"01804"	"FRMD7_000106"	"g.131214246C>A"	""	""	""	"FRMD7(NM_194277.3):c.954G>T (p.(Leu318=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006431"	"0"	"30"	"X"	"131212103"	"131212103"	"subst"	"0"	"01804"	"FRMD7_000107"	"g.131212103T>G"	""	""	""	"FRMD7(NM_194277.2):c.1942A>C (p.(Ser648Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006432"	"0"	"30"	"X"	"131219962"	"131219962"	"subst"	"5.59923E-6"	"01804"	"FRMD7_000108"	"g.131219962A>T"	""	""	""	"FRMD7(NM_194277.2):c.483T>A (p.(Phe161Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006433"	"0"	"30"	"X"	"131220008"	"131220008"	"subst"	"0"	"01804"	"FRMD7_000109"	"g.131220008C>T"	""	""	""	"FRMD7(NM_194277.2):c.437G>A (p.(Arg146Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001021833"	"0"	"90"	"X"	"32187162"	"131260066"	"inv"	"0"	"00006"	"DMD_069071"	"g.(32170892_32187162)_(131260066_131270897)inv"	""	"{PMID:Mai 2024:39575648}"	""	""	"99Mb pericentric inversion"	"Germline/De novo (untested)"	""	""	"0"	""	"ogm[GRCh37] inv(X) (p21.1q26.2)"	""	""	"pathogenic (recessive)"	""


## 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 FRMD7
## 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}}"
"0000003238"	"00000847"	"30"	"206"	"-59"	"206"	"-58"	"c.206-59_206-58del"	"r.(?)"	"p.(=)"	"3i"
"0000007655"	"00000847"	"30"	"383"	"-132"	"383"	"-132"	"c.383-132G>A"	"r.(?)"	"p.(=)"	"5i"
"0000009795"	"00000847"	"30"	"383"	"-132"	"383"	"-132"	"c.383-132G>A"	"r.(?)"	"p.(=)"	"5i"
"0000063066"	"00000847"	"70"	"57"	"1"	"57"	"1"	"c.57+1G>A"	"r.spl"	"p.?"	"1i"
"0000063067"	"00000847"	"10"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"12"
"0000063068"	"00000847"	"10"	"383"	"-11"	"383"	"-11"	"c.383-11C>T"	"r.(=)"	"p.(=)"	""
"0000063069"	"00000847"	"10"	"69"	"0"	"69"	"0"	"c.69C>T"	"r.(?)"	"p.(=)"	"2"
"0000063070"	"00000847"	"90"	"597"	"0"	"597"	"0"	"c.597del"	"r.(?)"	"p.(Met200Cysfs*32)"	""
"0000079378"	"00000847"	"00"	"824"	"0"	"824"	"0"	"c.824A>G"	"r.(?)"	"p.(His275Arg)"	""
"0000145986"	"00000847"	"70"	"796"	"0"	"796"	"0"	"c.796G>C"	"r.(?)"	"p.(Ala266Pro)"	"9"
"0000145988"	"00000847"	"90"	"1262"	"0"	"1262"	"0"	"c.1262del"	"r.(?)"	"p.(Pro421Leufs*23)"	"12"
"0000148338"	"00000847"	"90"	"58"	"-1"	"3024"	"0"	"c.(57+1_58-1)_(*879_?)del"	"r.?"	"p.?"	"1i_12_"
"0000248736"	"00000847"	"10"	"1533"	"0"	"1533"	"0"	"c.1533T>C"	"r.(?)"	"p.(Ile511=)"	""
"0000276903"	"00000847"	"10"	"163"	"-442"	"163"	"-442"	"c.163-442G>A"	"r.(=)"	"p.(=)"	""
"0000276904"	"00000847"	"10"	"383"	"-132"	"383"	"-132"	"c.383-132G>A"	"r.(=)"	"p.(=)"	""
"0000284430"	"00000847"	"90"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Ter)"	""
"0000287936"	"00000847"	"30"	"1558"	"0"	"1558"	"0"	"c.1558C>G"	"r.(?)"	"p.(His520Asp)"	""
"0000287937"	"00000847"	"30"	"1751"	"0"	"1751"	"0"	"c.1751A>G"	"r.(?)"	"p.(Glu584Gly)"	""
"0000287938"	"00000847"	"10"	"2087"	"0"	"2087"	"0"	"c.2087A>G"	"r.(?)"	"p.(Asn696Ser)"	""
"0000287939"	"00000847"	"50"	"256"	"0"	"256"	"0"	"c.256C>T"	"r.(?)"	"p.(Pro86Ser)"	""
"0000287940"	"00000847"	"30"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.(?)"	"p.(Glu282Lys)"	""
"0000287941"	"00000847"	"50"	"899"	"0"	"899"	"0"	"c.899G>A"	"r.(?)"	"p.(Arg300His)"	""
"0000335544"	"00000847"	"50"	"2113"	"0"	"2113"	"0"	"c.2113T>C"	"r.(?)"	"p.(Ser705Pro)"	""
"0000335545"	"00000847"	"50"	"1617"	"0"	"1617"	"0"	"c.1617A>C"	"r.(?)"	"p.(Arg539Ser)"	""
"0000335546"	"00000847"	"50"	"1531"	"0"	"1531"	"0"	"c.1531A>G"	"r.(?)"	"p.(Ile511Val)"	""
"0000335547"	"00000847"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>T"	"r.(?)"	"p.(Met491Ile)"	""
"0000335549"	"00000847"	"50"	"892"	"0"	"892"	"0"	"c.892A>G"	"r.(?)"	"p.(Ser298Gly)"	""
"0000335551"	"00000847"	"50"	"284"	"6"	"284"	"6"	"c.284+6G>A"	"r.(=)"	"p.(=)"	""
"0000335553"	"00000847"	"50"	"280"	"0"	"280"	"0"	"c.280A>C"	"r.(?)"	"p.(Thr94Pro)"	""
"0000347996"	"00000847"	"50"	"698"	"0"	"698"	"0"	"c.698T>C"	"r.(?)"	"p.(Phe233Ser)"	""
"0000394308"	"00000847"	"50"	"1101"	"0"	"1101"	"0"	"c.1101T>C"	"r.(=)"	"p.(=)"	""
"0000394309"	"00000847"	"50"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000394310"	"00000847"	"50"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Pro492Ser)"	""
"0000394311"	"00000847"	"50"	"1527"	"0"	"1527"	"0"	"c.1527C>T"	"r.(=)"	"p.(=)"	""
"0000394312"	"00000847"	"50"	"1533"	"0"	"1533"	"0"	"c.1533T>C"	"r.(=)"	"p.(=)"	""
"0000394313"	"00000847"	"50"	"69"	"0"	"69"	"0"	"c.69C>T"	"r.(=)"	"p.(=)"	""
"0000394314"	"00000847"	"50"	"842"	"0"	"842"	"0"	"c.842C>T"	"r.(?)"	"p.(Ser281Leu)"	""
"0000408298"	"00000847"	"70"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Leu130Phe)"	""
"0000573560"	"00000847"	"30"	"2033"	"0"	"2033"	"0"	"c.2033G>A"	"r.(?)"	"p.(Arg678His)"	""
"0000573561"	"00000847"	"30"	"1976"	"0"	"1976"	"0"	"c.1976A>T"	"r.(?)"	"p.(Lys659Ile)"	""
"0000573562"	"00000847"	"30"	"1643"	"0"	"1643"	"0"	"c.1643A>C"	"r.(?)"	"p.(Gln548Pro)"	""
"0000573563"	"00000847"	"70"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Gln544Ter)"	""
"0000573564"	"00000847"	"30"	"1544"	"0"	"1544"	"0"	"c.1544A>C"	"r.(?)"	"p.(Glu515Ala)"	""
"0000573565"	"00000847"	"50"	"1505"	"0"	"1505"	"0"	"c.1505C>T"	"r.(?)"	"p.(Pro502Leu)"	""
"0000573566"	"00000847"	"30"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Pro492Ser)"	""
"0000573567"	"00000847"	"10"	"1473"	"0"	"1473"	"0"	"c.1473G>T"	"r.(?)"	"p.(Met491Ile)"	""
"0000573568"	"00000847"	"30"	"1387"	"0"	"1387"	"0"	"c.1387C>T"	"r.(?)"	"p.(Leu463Phe)"	""
"0000573569"	"00000847"	"30"	"1374"	"0"	"1374"	"0"	"c.1374C>T"	"r.(?)"	"p.(Ser458=)"	""
"0000573570"	"00000847"	"30"	"1363"	"0"	"1363"	"0"	"c.1363A>G"	"r.(?)"	"p.(Asn455Asp)"	""
"0000573571"	"00000847"	"50"	"898"	"0"	"898"	"0"	"c.898C>T"	"r.(?)"	"p.(Arg300Cys)"	""
"0000573572"	"00000847"	"30"	"898"	"0"	"898"	"0"	"c.898C>T"	"r.(?)"	"p.(Arg300Cys)"	""
"0000573574"	"00000847"	"50"	"605"	"0"	"605"	"0"	"c.605T>G"	"r.(?)"	"p.(Ile202Ser)"	""
"0000573575"	"00000847"	"50"	"567"	"0"	"567"	"0"	"c.567C>G"	"r.(?)"	"p.(Ile189Met)"	""
"0000573576"	"00000847"	"30"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Leu130Phe)"	""
"0000573577"	"00000847"	"30"	"218"	"0"	"218"	"0"	"c.218T>C"	"r.(?)"	"p.(Ile73Thr)"	""
"0000619008"	"00000847"	"30"	"1217"	"0"	"1217"	"0"	"c.1217A>C"	"r.(?)"	"p.(His406Pro)"	""
"0000652793"	"00000847"	"30"	"842"	"0"	"842"	"0"	"c.842C>T"	"r.(?)"	"p.(Ser281Leu)"	""
"0000659092"	"00000847"	"30"	"1375"	"0"	"1375"	"0"	"c.1375A>C"	"r.(?)"	"p.(Ile459Leu)"	""
"0000670084"	"00000847"	"30"	"842"	"0"	"842"	"0"	"c.842C>T"	"r.(?)"	"p.(Ser281Leu)"	""
"0000682097"	"00000847"	"30"	"1675"	"0"	"1675"	"0"	"c.1675G>A"	"r.(?)"	"p.(Gly559Ser)"	""
"0000682098"	"00000847"	"30"	"1530"	"0"	"1530"	"0"	"c.1530A>C"	"r.(?)"	"p.(Pro510=)"	""
"0000682099"	"00000847"	"50"	"450"	"0"	"450"	"0"	"c.450C>A"	"r.(?)"	"p.(Asn150Lys)"	""
"0000687748"	"00000847"	"90"	"781"	"0"	"781"	"0"	"c.781C>T"	"r.(?)"	"p.(Arg261*)"	""
"0000693350"	"00000847"	"50"	"1958"	"0"	"1958"	"0"	"c.1958C>T"	"r.(?)"	"p.(Ser653Phe)"	""
"0000693351"	"00000847"	"30"	"843"	"0"	"843"	"0"	"c.843G>A"	"r.(?)"	"p.(Ser281=)"	""
"0000693352"	"00000847"	"30"	"210"	"0"	"210"	"0"	"c.210T>C"	"r.(?)"	"p.(Pro70=)"	""
"0000704080"	"00000847"	"70"	"70"	"0"	"70"	"0"	"c.70G>A"	"r.(?)"	"p.(Gly24Arg)"	"2"
"0000708750"	"00000847"	"90"	"236"	"-1"	"5347"	"0"	"c.(235+1_236-1)_(*3202_?)del"	"r.?"	"p.?"	""
"0000728430"	"00000847"	"50"	"1531"	"0"	"1531"	"0"	"c.1531A>G"	"r.(?)"	"p.(Ile511Val)"	""
"0000728431"	"00000847"	"30"	"284"	"6"	"284"	"6"	"c.284+6G>A"	"r.(=)"	"p.(=)"	""
"0000731331"	"00000847"	"70"	"901"	"0"	"901"	"0"	"c.901T>C"	"r.(?)"	"p.(Tyr301His)"	""
"0000731332"	"00000847"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304*)"	""
"0000794191"	"00000847"	"70"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000794325"	"00000847"	"90"	"1266"	"0"	"1269"	"0"	"c.1266_1269dup"	"r.(?)"	"p.(Asn424Leufs*2)"	"12"
"0000794465"	"00000847"	"70"	"284"	"63"	"284"	"63"	"c.284+63T>A"	"r.(=)"	"p.(=)"	""
"0000797468"	"00000847"	"70"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304*)"	""
"0000797469"	"00000847"	"70"	"886"	"0"	"886"	"0"	"c.886G>T"	"r.(?)"	"p.(Gly296Cys)"	""
"0000797470"	"00000847"	"70"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000797471"	"00000847"	"70"	"901"	"0"	"901"	"0"	"c.901T>C"	"r.(?)"	"p.(Tyr301His)"	""
"0000797472"	"00000847"	"70"	"722"	"0"	"722"	"0"	"c.722A>G"	"r.(?)"	"p.(Lys241Arg)"	""
"0000797473"	"00000847"	"70"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Cys)"	""
"0000797474"	"00000847"	"70"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Val213Met)"	""
"0000797475"	"00000847"	"70"	"575"	"0"	"575"	"0"	"c.575A>C"	"r.(?)"	"p.(His192Pro)"	""
"0000797476"	"00000847"	"70"	"536"	"0"	"536"	"0"	"c.536del"	"r.(?)"	"p.(Asp179Alafs*2)"	""
"0000797477"	"00000847"	"70"	"506"	"0"	"535"	"0"	"c.506_535dup"	"r.(?)"	"p.(Leu178_Asp179insGlyProAlaGluSerAspIleLeuLeuLeu)"	""
"0000797478"	"00000847"	"70"	"368"	"0"	"368"	"0"	"c.368C>A"	"r.(?)"	"p.(Ser123Tyr)"	""
"0000797479"	"00000847"	"70"	"347"	"0"	"347"	"0"	"c.347A>G"	"r.(?)"	"p.(Asn116Ser)"	""
"0000797480"	"00000847"	"70"	"285"	"-12"	"285"	"-12"	"c.285-12A>G"	"r.spl?"	"p.?"	""
"0000797481"	"00000847"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.?"	""
"0000797482"	"00000847"	"70"	"1621"	"0"	"1622"	"0"	"c.1621_1622del"	"r.(?)"	"p.(Lys541Glufs*17)"	""
"0000797483"	"00000847"	"70"	"1424"	"0"	"1424"	"0"	"c.1424dup"	"r.(?)"	"p.(Tyr475*)"	""
"0000797484"	"00000847"	"70"	"134"	"0"	"134"	"0"	"c.134del"	"r.(?)"	"p.(Leu45*)"	""
"0000797485"	"00000847"	"70"	"1258"	"0"	"1258"	"0"	"c.1258del"	"r.(?)"	"p.(Asp420Thrfs*24)"	""
"0000797486"	"00000847"	"70"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Gln350*)"	""
"0000797487"	"00000847"	"70"	"1023"	"0"	"1030"	"0"	"c.1023_1030del"	"r.(?)"	"p.(Asp342Leufs*2)"	""
"0000797488"	"00000847"	"70"	"1016"	"0"	"1016"	"0"	"c.1016C>G"	"r.(?)"	"p.(Ser339Cys)"	""
"0000797489"	"00000847"	"70"	"383"	"-1368"	"383"	"-1368"	"c.383-1368A>G"	"r.spl?"	"p.?"	""
"0000809899"	"00000847"	"30"	"1888"	"0"	"1888"	"0"	"c.1888C>G"	"r.(?)"	"p.(Gln630Glu)"	""
"0000809900"	"00000847"	"30"	"1747"	"0"	"1747"	"0"	"c.1747C>G"	"r.(?)"	"p.(Gln583Glu)"	""
"0000809901"	"00000847"	"30"	"1712"	"0"	"1712"	"0"	"c.1712A>C"	"r.(?)"	"p.(Asp571Ala)"	""
"0000809902"	"00000847"	"30"	"1468"	"0"	"1468"	"0"	"c.1468A>C"	"r.(?)"	"p.(Ile490Leu)"	""
"0000809903"	"00000847"	"70"	"47"	"0"	"47"	"0"	"c.47T>C"	"r.(?)"	"p.(Phe16Ser)"	""
"0000811203"	"00000847"	"90"	"980"	"0"	"983"	"0"	"c.980_983del"	"r.(?)"	"p.(His327Profs*27)"	"11"
"0000812547"	"00000847"	"70"	"197"	"0"	"197"	"0"	"c.197A>G"	"r.(?)"	"p.(Gln66Arg)"	""
"0000812595"	"00000847"	"90"	"1018"	"0"	"1018"	"0"	"c.1018del"	"r.(?)"	"p.(Ser340Hisfs*15)"	""
"0000812612"	"00000847"	"70"	"974"	"0"	"974"	"0"	"c.974G>T"	"r.(?)"	"p.(Arg325Met)"	""
"0000812690"	"00000847"	"70"	"772"	"0"	"772"	"0"	"c.772A>G"	"r.(?)"	"p.(Met258Val)"	""
"0000825914"	"00000847"	"70"	"1266"	"0"	"1269"	"0"	"c.1266_1269dup"	"r.(?)"	"p.(Asn424Leufs*2)"	"12"
"0000833550"	"00000847"	"50"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000833554"	"00000847"	"50"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000836579"	"00000847"	"90"	"57"	"1"	"57"	"1"	"c.57+1G>A"	"r.(?)"	"p.?"	""
"0000836580"	"00000847"	"90"	"57"	"1"	"57"	"1"	"c.57+1G>A"	"r.(?)"	"p.?"	""
"0000836581"	"00000847"	"90"	"57"	"1"	"57"	"1"	"c.57+1G>A"	"r.(?)"	"p.?"	""
"0000856346"	"00000847"	"30"	"1903"	"0"	"1903"	"0"	"c.1903G>T"	"r.(?)"	"p.(Val635Phe)"	""
"0000856347"	"00000847"	"50"	"899"	"0"	"899"	"0"	"c.899G>A"	"r.(?)"	"p.(Arg300His)"	""
"0000856348"	"00000847"	"50"	"892"	"0"	"892"	"0"	"c.892A>G"	"r.(?)"	"p.(Ser298Gly)"	""
"0000856349"	"00000847"	"30"	"449"	"0"	"449"	"0"	"c.449A>G"	"r.(?)"	"p.(Asn150Ser)"	""
"0000867043"	"00000847"	"50"	"778"	"0"	"778"	"0"	"c.778A>G"	"r.(?)"	"p.(Ser260Gly)"	""
"0000867044"	"00000847"	"90"	"674"	"0"	"674"	"0"	"c.674G>A"	"r.(?)"	"p.(Trp225*)"	""
"0000867045"	"00000847"	"30"	"497"	"18"	"497"	"18"	"c.497+18G>A"	"r.(=)"	"p.(=)"	""
"0000895938"	"00000847"	"90"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Ter)"	""
"0000921858"	"00000847"	"90"	"383"	"-1"	"383"	"-1"	"c.383-1G>A"	"r.spl"	"p.?"	""
"0000921895"	"00000847"	"90"	"206"	"-5"	"206"	"-5"	"c.206-5T>A"	"r.spl"	"p.?"	""
"0000921896"	"00000847"	"90"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335Ter)"	""
"0000921897"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000927261"	"00000847"	"90"	"910"	"0"	"910"	"0"	"c.910C>T"	"r.(?)"	"p.(Arg304Ter)"	""
"0000931338"	"00000847"	"70"	"205"	"1"	"205"	"1"	"c.205+1del"	"r.spl?"	"p.?"	""
"0000954016"	"00000847"	"70"	"368"	"0"	"368"	"0"	"c.368C>A"	"r.(?)"	"p.(Ser123Tyr)"	""
"0000954017"	"00000847"	"70"	"575"	"0"	"575"	"0"	"c.575A>C"	"r.(?)"	"p.(His192Pro)"	""
"0000954018"	"00000847"	"70"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Val213Met)"	""
"0000954019"	"00000847"	"90"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Cys)"	""
"0000954020"	"00000847"	"70"	"772"	"0"	"772"	"0"	"c.772A>G"	"r.(?)"	"p.(Met258Val)"	""
"0000954021"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954022"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954023"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954024"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954025"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954026"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954027"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954028"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954029"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954030"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954031"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954032"	"00000847"	"90"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Pro)"	""
"0000954033"	"00000847"	"70"	"886"	"0"	"886"	"0"	"c.886G>T"	"r.(?)"	"p.(Gly296Cys)"	""
"0000954034"	"00000847"	"70"	"901"	"0"	"901"	"0"	"c.901T>C"	"r.(?)"	"p.(Tyr301His)"	""
"0000954035"	"00000847"	"70"	"1016"	"0"	"1016"	"0"	"c.1016C>G"	"r.(?)"	"p.(Ser339Cys)"	""
"0000954036"	"00000847"	"90"	"1023"	"0"	"1030"	"0"	"c.1023_1030del"	"r.(?)"	"p.(Asp342LeufsTer2)"	""
"0000954037"	"00000847"	"90"	"285"	"-1"	"382"	"1"	"c.(284+1_285-1)_(382+1_383-1)del"	"r.?"	"p.?"	"4i_5i"
"0000958278"	"00000847"	"90"	"781"	"0"	"781"	"0"	"c.781C>T"	"r.(?)"	"p.(Arg261Ter)"	""
"0000984454"	"00000847"	"30"	"954"	"0"	"954"	"0"	"c.954G>T"	"r.(?)"	"p.(=)"	""
"0001006431"	"00000847"	"30"	"1942"	"0"	"1942"	"0"	"c.1942A>C"	"r.(?)"	"p.(Ser648Arg)"	""
"0001006432"	"00000847"	"30"	"483"	"0"	"483"	"0"	"c.483T>A"	"r.(?)"	"p.(Phe161Leu)"	""
"0001006433"	"00000847"	"30"	"437"	"0"	"437"	"0"	"c.437G>A"	"r.(?)"	"p.(Arg146Gln)"	""
"0001021833"	"00000847"	"90"	"57"	"1750"	"8388607"	"0"	"c.(-9025_57+1750)_(*99024738_*99041008)inv"	"r.?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 91
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000003238"
"0000000209"	"0000007655"
"0000000210"	"0000009795"
"0000035941"	"0000063066"
"0000035942"	"0000063067"
"0000035943"	"0000063068"
"0000035944"	"0000063069"
"0000035945"	"0000063070"
"0000050398"	"0000079378"
"0000088320"	"0000145986"
"0000088322"	"0000145988"
"0000088325"	"0000148338"
"0000173991"	"0000394308"
"0000173992"	"0000394309"
"0000173993"	"0000394310"
"0000173994"	"0000394311"
"0000173995"	"0000394312"
"0000173996"	"0000394313"
"0000173997"	"0000394314"
"0000184280"	"0000408298"
"0000296104"	"0000652793"
"0000306396"	"0000670084"
"0000312192"	"0000687748"
"0000321261"	"0000704080"
"0000325624"	"0000708750"
"0000333629"	"0000731331"
"0000333630"	"0000731332"
"0000380947"	"0000794191"
"0000381041"	"0000794325"
"0000381137"	"0000794465"
"0000383383"	"0000797468"
"0000383384"	"0000797469"
"0000383385"	"0000797470"
"0000383386"	"0000797471"
"0000383387"	"0000797472"
"0000383388"	"0000797473"
"0000383389"	"0000797474"
"0000383390"	"0000797475"
"0000383391"	"0000797476"
"0000383392"	"0000797477"
"0000383393"	"0000797478"
"0000383394"	"0000797479"
"0000383395"	"0000797480"
"0000383396"	"0000797481"
"0000383397"	"0000797482"
"0000383398"	"0000797483"
"0000383399"	"0000797484"
"0000383400"	"0000797485"
"0000383401"	"0000797486"
"0000383402"	"0000797487"
"0000383403"	"0000797488"
"0000383404"	"0000797489"
"0000384507"	"0000811203"
"0000385483"	"0000812547"
"0000385519"	"0000812595"
"0000385534"	"0000812612"
"0000385599"	"0000812690"
"0000394855"	"0000825914"
"0000400608"	"0000833550"
"0000400609"	"0000833554"
"0000402435"	"0000836579"
"0000402436"	"0000836580"
"0000402437"	"0000836581"
"0000435685"	"0000921858"
"0000435722"	"0000921895"
"0000435723"	"0000921896"
"0000435724"	"0000921897"
"0000445831"	"0000954016"
"0000445832"	"0000954017"
"0000445833"	"0000954018"
"0000445834"	"0000954019"
"0000445835"	"0000954020"
"0000445836"	"0000954021"
"0000445837"	"0000954022"
"0000445838"	"0000954023"
"0000445839"	"0000954024"
"0000445840"	"0000954025"
"0000445841"	"0000954026"
"0000445842"	"0000954027"
"0000445843"	"0000954028"
"0000445844"	"0000954029"
"0000445845"	"0000954030"
"0000445846"	"0000954031"
"0000445847"	"0000954032"
"0000445848"	"0000954033"
"0000445849"	"0000954034"
"0000445850"	"0000954035"
"0000445851"	"0000954036"
"0000445852"	"0000954037"
"0000448792"	"0000958278"
"0000462314"	"0001021833"