### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GFAP)
# 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}}"
"GFAP"	"glial fibrillary acidic protein"	"17"	"q21"	"unknown"	"NC_000017.10"	"UD_132085274734"	""	"https://www.LOVD.nl/GFAP"	""	"1"	"4235"	"2670"	"137780"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/GFAP_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2024-11-20 11:39:12"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00008458"	"GFAP"	"transcript variant 1"	"001"	"NM_002055.4"	""	"NP_002046.1"	""	""	""	"-66"	"3020"	"1299"	"42992920"	"42982994"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00124"	"MFDGA;MFDM"	"dysostosis, mandibulofacial, Guion-Almeida type (MFDM)"	"AD"	"610536"	""	""	""	"00001"	"2013-05-02 11:49:16"	"00006"	"2024-02-16 18:14:51"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01638"	"ALXDRD"	"Alexander\'s disease"	"AD"	"203450"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"GFAP"	"00139"
"GFAP"	"01638"


## Individuals ## Do not remove or alter this header ##
## Count = 89
"{{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}}"
"00001636"	""	""	""	"1"	""	"00006"	"{PMID:Lines 2012:22305528}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00226256"	""	""	""	"1"	""	"01741"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00274176"	""	""	""	"1"	""	"00006"	"{PMID:Pronicka 2016:27290639}"	"no family history"	"F"	""	"Poland"	""	"0"	""	""	""	"Pat42"
"00291758"	""	""	""	"22"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291759"	""	""	""	"55"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291760"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304585"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00374326"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3908"
"00374742"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2346"
"00374743"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5688"
"00374744"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3669"
"00419627"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"7014"
"00455776"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat16"
"00455786"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat26"
"00455855"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat95"
"00457748"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00457835"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	""	""	""	"France"	"5.4y"	"0"	""	""	""	"Pat1"
"00457836"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat2"
"00457837"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat3"
"00457838"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	""	""	""	"France"	""	"0"	""	""	""	"Pat4"
"00457839"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat5"
"00457840"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	""	""	""	"France"	""	"0"	""	""	""	"Pat6"
"00457841"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat7"
"00457842"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	""	""	""	"France"	""	"0"	""	""	""	"Pat8"
"00457843"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"…"	""	""	"France"	""	"0"	""	""	""	"Pat9"
"00457844"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat10"
"00457845"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	""	"0"	""	""	""	"Pat11"
"00457846"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	"4.5y"	"0"	""	""	""	"Pat12"
"00457847"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	""	""	""	"France"	""	"0"	""	""	""	"Pat13"
"00457848"	""	""	""	"1"	""	"00006"	"{PMID:Rodriguez 2001:11567214}"	"2-generation family, 1 affected, unaffected non carrier parents"	""	""	"France"	"1.2y"	"0"	""	""	""	"Pat14"
"00457851"	""	""	""	"1"	""	"00006"	"{PMID:Asahina 2006:16168593}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"patient"
"00457852"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	""	"M"	""	"United States"	"14y"	"0"	""	""	""	"Pat1"
"00457853"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	""	"F"	""	"United States"	"48y"	"0"	""	""	""	"Pat2"
"00457854"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	"6y"	"0"	""	""	""	"Pat3"
"00457855"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	""	"F"	""	"United States"	"11y"	"0"	""	""	""	"Pat4"
"00457856"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"10y"	"0"	""	""	""	"Pat5"
"00457857"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"4y"	"0"	""	""	""	"Pat6"
"00457858"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	""	"F"	""	"United States"	"11m"	"0"	""	""	""	"Pat7"
"00457859"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	"6y"	"0"	""	""	""	"Pat8"
"00457860"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	""	"M"	""	"United States"	"7y"	"0"	""	""	""	"Pat9"
"00457861"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"8y"	"0"	""	""	""	"Pat10"
"00457862"	""	""	""	"1"	""	"00006"	"{PMID:Brenner 2001:11138011}"	""	"F"	""	"United States"	"4m"	"0"	""	""	""	"Pat11"
"00457863"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat1"
"00457864"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat2"
"00457865"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat3"
"00457866"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"10y7m"	"0"	""	""	""	"Pat4"
"00457867"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"2y3m"	"0"	""	""	""	"Pat5"
"00457868"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat6"
"00457869"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"United States"	"6y11m"	"0"	""	""	""	"Pat7"
"00457870"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat8"
"00457871"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat9"
"00457872"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	"6y5m"	"0"	""	""	""	"Pat10"
"00457873"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat11"
"00457874"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat12"
"00457875"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"United States"	"33y"	"0"	""	""	""	"Pat13"
"00457876"	""	""	""	"2"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, affected twin pair, unaffected non carrier parents"	"M"	""	"United States"	"10y"	"0"	""	""	""	"Pat14"
"00457877"	""	""	"00457876"	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"twin"	"M"	""	"United States"	"8y"	"0"	""	""	""	"Pat15"
"00457878"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat16"
"00457879"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat17"
"00457880"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat18"
"00457881"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat19"
"00457882"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	"8y"	"0"	""	""	""	"Pat20"
"00457883"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	"2y5m"	"0"	""	""	""	"Pat21"
"00457884"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat22"
"00457885"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	"11m15d"	"0"	""	""	""	"Pat23"
"00457886"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"United States"	"11m15d"	"0"	""	""	""	"Pat24"
"00457887"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	"5y3m"	"0"	""	""	""	"Pat25"
"00457888"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat26"
"00457889"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat27"
"00457890"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat28"
"00457891"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat29"
"00457892"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat30"
"00457893"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat31"
"00457894"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"3m15d"	"0"	""	""	""	"Pat32"
"00457895"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	"38d"	"0"	""	""	""	"Pat33"
"00457896"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat34"
"00457897"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	"4m"	"0"	""	""	""	"Pat35"
"00457898"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat36"
"00457899"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	"6m"	"0"	""	""	""	"Pat37"
"00457900"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat38"
"00457901"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat39"
"00457902"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat40"
"00457903"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat41"
"00457904"	""	""	""	"1"	""	"00006"	"{PMID:Li 2005:15732097}"	""	"M"	""	"Netherlands"	"8m"	"0"	""	""	""	"Pat42"
"00457945"	""	""	""	"1"	""	"00006"	"{PMID:Sawaishi 2002:12034796}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Japan"	""	"0"	""	""	""	"patient"
"00457946"	""	""	""	"2"	""	"00006"	"{PMID:Namekawa 2002:12447932}"	"family, 2 affected brothers"	"M"	""	"Japan"	""	"0"	""	""	""	"FamPat1"
"00457947"	""	""	"00457946"	"1"	""	"00006"	"{PMID:Namekawa 2002:12447932}"	"brother"	"M"	""	"Japan"	""	"0"	""	""	""	"FamPat2"
"00457948"	""	""	""	"1"	""	"00006"	"{PMID:Bassuk 2003:14557587}"	""	"M"	""	"United States"	""	"0"	""	""	"Philippines;Europe-W"	"patient"
"00457949"	""	""	""	"1"	""	"00006"	"{PMID:Stumpf 2003:12975300}"	"4-generation family, 9 affected (4F, 5M)"	"F;M"	""	"Canada"	""	"0"	""	""	""	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 89
"{{individualid}}"	"{{diseaseid}}"
"00001636"	"00124"
"00226256"	"01638"
"00274176"	"00198"
"00291758"	"00198"
"00291759"	"00198"
"00291760"	"00198"
"00304585"	"00198"
"00374326"	"00198"
"00374742"	"00198"
"00374743"	"00198"
"00374744"	"00198"
"00419627"	"00198"
"00455776"	"00198"
"00455786"	"00198"
"00455855"	"00198"
"00457748"	"00198"
"00457835"	"01638"
"00457836"	"01638"
"00457837"	"01638"
"00457838"	"01638"
"00457839"	"01638"
"00457840"	"01638"
"00457841"	"01638"
"00457842"	"01638"
"00457843"	"01638"
"00457844"	"01638"
"00457845"	"01638"
"00457846"	"01638"
"00457847"	"01638"
"00457848"	"01638"
"00457851"	"01638"
"00457852"	"01638"
"00457853"	"01638"
"00457854"	"01638"
"00457855"	"01638"
"00457856"	"01638"
"00457857"	"01638"
"00457858"	"01638"
"00457859"	"01638"
"00457860"	"01638"
"00457861"	"01638"
"00457862"	"01638"
"00457863"	"01638"
"00457864"	"01638"
"00457865"	"01638"
"00457866"	"01638"
"00457867"	"01638"
"00457868"	"01638"
"00457869"	"01638"
"00457870"	"01638"
"00457871"	"01638"
"00457872"	"01638"
"00457873"	"01638"
"00457874"	"01638"
"00457875"	"01638"
"00457876"	"01638"
"00457877"	"01638"
"00457878"	"01638"
"00457879"	"01638"
"00457880"	"01638"
"00457881"	"01638"
"00457882"	"01638"
"00457883"	"01638"
"00457884"	"01638"
"00457885"	"01638"
"00457886"	"01638"
"00457887"	"01638"
"00457888"	"01638"
"00457889"	"01638"
"00457890"	"01638"
"00457891"	"01638"
"00457892"	"01638"
"00457893"	"01638"
"00457894"	"01638"
"00457895"	"01638"
"00457896"	"01638"
"00457897"	"01638"
"00457898"	"01638"
"00457899"	"01638"
"00457900"	"01638"
"00457901"	"01638"
"00457902"	"01638"
"00457903"	"01638"
"00457904"	"01638"
"00457945"	"01638"
"00457946"	"00198"
"00457947"	"00198"
"00457948"	"01638"
"00457949"	"01638"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00124, 00139, 00198, 01638
## Count = 85
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Growth/Height_SDS}}"	"{{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}}"
"0000000803"	"00124"	"00001636"	"00076"	"Isolated (sporadic)"	""	"IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures"	""	"40w; weight 2610 (-2)"	"87cm (-1.75); 13.4Kg (+0); 43.5cm (-4)"	""	""	""	""	""	""	""	"MFDGA"	""	""
"0000171383"	"01638"	"00226256"	"01741"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	"alexander disease"	""
"0000209121"	"00198"	"00274176"	"00006"	"Isolated (sporadic)"	""	"mitochondrial disease criteria score 2"	""	""	""	""	""	""	""	""	""	""	""	"expected mitochondrial disorder"	""
"0000269536"	"00198"	"00374326"	"00006"	"Familial, autosomal dominant"	""	"Developmental delay and seizures"	""	""	""	""	""	""	""	""	""	""	""	"Alexander diseasel"	""
"0000269952"	"00198"	"00374742"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	"leukodystrophy"	""
"0000269953"	"00198"	"00374743"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269954"	"00198"	"00374744"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	"spasticity"	""
"0000310908"	"00198"	"00419627"	"02300"	"Isolated (sporadic)"	"3y"	""	""	""	""	""	""	""	""	""	""	""	""	"metabolic abnormality"	""
"0000344309"	"00198"	"00455776"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"neurogenetic diseases"	""
"0000344319"	"00198"	"00455786"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"neurogenetic diseases"	""
"0000344388"	"00198"	"00455855"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"neurogenetic diseases"	""
"0000346197"	"00198"	"00457748"	"03544"	"Isolated (sporadic)"	""	"HP:0000218, HP:0000219, HP:0000319, HP:0000343, HP:0000689, HP:0007655, HP:0011800, HP:0000368, HP:0000369, HP:0002650, HP:0002313, HP:0000750, HP:0010864, HP:0001250, HP:0012758, HP:0100716"	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"complex neurodevelopmental disorder"	""
"0000346283"	"01638"	"00457835"	"00006"	"Unknown"	"5.4y"	"see paper; ..., 5.4y-deceased; progressive megalencephaly, OFC SD+3; 4m-psychomotor degradation; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal; biopsy Rosenthal fibers; feeding difficulties; respiratory difficulties; neuropathology"	"4m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346284"	"01638"	"00457836"	"00006"	"Isolated (sporadic)"	"1.5y"	"see paper; ..., OFC SD+1; 8m-delayed psychomotor development; MRI abnormalities suggestive of Alexander disease"	"4m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346285"	"01638"	"00457837"	"00006"	"Isolated (sporadic)"	"7.5y"	"see paper; ..., OFC SD+1; 1d-delayed psychomotor development; 7y-psychomotor degradation; occasional seizures; MRI abnormalities suggestive of Alexander disease"	"1d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346286"	"01638"	"00457838"	"00006"	"Unknown"	"2.6y"	"see paper; ..., OFC SD+1.5; 8m-delayed psychomotor development; occasional seizures; MRI abnormalities suggestive of Alexander disease"	"8m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346287"	"01638"	"00457839"	"00006"	"Isolated (sporadic)"	"4.7y"	"see paper; ..., OFC SD+0.5; 6m-delayed psychomotor development; occasional seizures; MRI abnormalities suggestive of Alexander disease"	"6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346288"	"01638"	"00457840"	"00006"	"Unknown"	"20y"	"see paper; ..., OFC SD+1.5; 6m-delayed psychomotor development; 8y-psychomotor degradation; occasional seizures; MRI abnormalities suggestive of Alexander disease"	"6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346289"	"01638"	"00457841"	"00006"	"Isolated (sporadic)"	"5.5y"	"see paper; ..., progressive megalencephaly, OFC SD+3; 6m-delayed psychomotor development; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346290"	"01638"	"00457842"	"00006"	"Unknown"	"2.5y"	"see paper; ..., progressive megalencephaly, OFC SD+3; 1d-delayed psychomotor development; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal"	"1d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346291"	"01638"	"00457843"	"00006"	"Unknown"	"3.5y"	"see paper; ..., OFC SD+1; 1m-delayed psychomotor development; MRI abnormalities suggestive of Alexander disease"	"1m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346292"	"01638"	"00457844"	"00006"	"Isolated (sporadic)"	"2.2y"	"see paper; ..., progressive megalencephaly, OFC SD+3; 6m-delayed psychomotor development; occasional seizures; MRI rostrocaudal gradient abnormal white matter signal"	"6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346293"	"01638"	"00457845"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., OFC SD+3.5; 6m-delayed psychomotor development; MRI abnormalities suggestive of Alexander disease"	"6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346294"	"01638"	"00457846"	"00006"	"Isolated (sporadic)"	"4.5y"	"see paper; ..., 4.5y-deceased; OFC SD+1; 12m-delayed psychomotor development; 13m-psychomotor degradation; recurrent seizures; MRI abnormalities suggestive of Alexander disease; neuropathology"	"9m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346295"	"01638"	"00457847"	"00006"	"Unknown"	"8y"	"see paper; ..., OFC SD+1.5; 18m-delayed psychomotor development; 6y-psychomotor degradation; occasional seizures; MRI abnormalities suggestive of Alexander disease"	"18m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346296"	"01638"	"00457848"	"00006"	"Isolated (sporadic)"	"1.2y"	"see paper; ..., 1.2y-deceased; progressive megalencephaly, OFC SD+3; 3m-psychomotor degradation; occasional seizures; MRI rostrocaudal gradient abnormal white matter signal; Rosenthal fibers; feeding difficulties; respiratory difficulties; neuropathology"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile disease Alexander disease"	""
"0000346299"	"01638"	"00457851"	"00006"	"Unknown"	"06y"	"see paper; ..., 40w-birth, weight 2550g (−1.6SD), length 46cm (−2.0SD), OFC 31cm (−1.8SD); developmental milestones slightly delayed, 5m-head control, 12m-stand, 20m-walk, 24m-first speech; 5y-first seizure"	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile-juvenile form Alexander disease"	""
"0000346300"	"01638"	"00457852"	"00006"	"Unknown"	"14y"	"see paper; ..., 14y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346301"	"01638"	"00457853"	"00006"	"Unknown"	"48y"	"see paper; ..., 48y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"10y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346302"	"01638"	"00457854"	"00006"	"Isolated (sporadic)"	"6y"	"see paper; ..., 6y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"13m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346303"	"01638"	"00457855"	"00006"	"Unknown"	"11y"	"see paper; ..., 11y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"17m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346304"	"01638"	"00457856"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., 10y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"<1y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346305"	"01638"	"00457857"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., 4y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"<1y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346306"	"01638"	"00457858"	"00006"	"Unknown"	"11m"	"see paper; ..., 11m-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"4m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346307"	"01638"	"00457859"	"00006"	"Isolated (sporadic)"	"6y"	"see paper; ..., 6y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"2m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346308"	"01638"	"00457860"	"00006"	"Unknown"	"7y"	"see paper; ..., 7y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"10m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346309"	"01638"	"00457861"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., 8y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346310"	"01638"	"00457862"	"00006"	"Unknown"	"4m"	"see paper; ..., 4m-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation"	"1d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease"	""
"0000346313"	"01638"	"00457863"	"00006"	"Unknown"	"43y"	"no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy/autopsy; MRI brain atypical"	"21y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, adult"	""
"0000346314"	"01638"	"00457864"	"00006"	"Isolated (sporadic)"	"2y"	"macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346315"	"01638"	"00457865"	"00006"	"Isolated (sporadic)"	"9y"	"no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; pathology from autopsy; MRI brain typical"	"7d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346316"	"01638"	"00457866"	"00006"	"Isolated (sporadic)"	"10y7m"	"10y7m-deceased; no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical"	"5m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346317"	"01638"	"00457867"	"00006"	"Isolated (sporadic)"	"2y3m"	"2y3m-deceased; macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; pathology from autopsy; MRI brain typical"	"7m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346318"	"01638"	"00457868"	"00006"	"Unknown"	"14y"	"macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical"	"7y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346319"	"01638"	"00457869"	"00006"	"Unknown"	"6y11m"	"6y11m-deceased; macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy;"	"1y6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346320"	"01638"	"00457870"	"00006"	"Unknown"	"19y"	"macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"7m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346321"	"01638"	"00457871"	"00006"	"Unknown"	"10y"	"no macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical"	"6y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346322"	"01638"	"00457872"	"00006"	"Unknown"	"6y5m"	"6y5m-deceased; macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical"	"1d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346323"	"01638"	"00457873"	"00006"	"Isolated (sporadic)"	"17y"	"no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical"	"10y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346324"	"01638"	"00457874"	"00006"	"Isolated (sporadic)"	"16y"	"<11y6m-chronic bed-wetting; 11y6m-scoliosis; no macrocephaly; no seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical"	"11y6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346325"	"01638"	"00457875"	"00006"	"Unknown"	"33y"	"33y-deceased; no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from autopsy; MRI brain atypical"	"24y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, adult"	""
"0000346326"	"01638"	"00457876"	"00006"	"Isolated (sporadic)"	"10y"	"10y-deceased; no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; MRI brain atypical"	"3y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346327"	"01638"	"00457877"	"00006"	"Isolated (sporadic)"	"8y"	"8y-deceased; no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy; MRI brain atypical"	"3y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346328"	"01638"	"00457878"	"00006"	"Isolated (sporadic)"	"12y"	"macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"2y6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346329"	"01638"	"00457879"	"00006"	"Isolated (sporadic)"	"3y"	"no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"2y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346330"	"01638"	"00457880"	"00006"	"Isolated (sporadic)"	"2y"	"macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; no cognitive defect; MRI brain typical"	"1y2m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346331"	"01638"	"00457881"	"00006"	"Isolated (sporadic)"	"8y"	"macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"8m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346332"	"01638"	"00457882"	"00006"	"Isolated (sporadic)"	"8y"	"8y-deceased; no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"1y6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346333"	"01638"	"00457883"	"00006"	"Unknown"	"2y5m"	"2y5m-deceased; macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical"	"1m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346334"	"01638"	"00457884"	"00006"	"Unknown"	"13y"	"no macrocephaly; no seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy; MRI brain atypical"	"4y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346335"	"01638"	"00457885"	"00006"	"Unknown"	"11m15d"	"11m15d-deceased; macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346336"	"01638"	"00457886"	"00006"	"Unknown"	"11m15d"	"11m15d-deceased; macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; pathology from autopsy; MRI brain typical"	"2m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346337"	"01638"	"00457887"	"00006"	"Unknown"	"5y3m"	"5y3m-deceased; macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; MRI brain typical"	"4m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346338"	"01638"	"00457888"	"00006"	"Isolated (sporadic)"	"3y"	"no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; MRI brain typical"	"6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346339"	"01638"	"00457889"	"00006"	"Isolated (sporadic)"	"6m"	"no macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; MRI brain typical"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346340"	"01638"	"00457890"	"00006"	"Isolated (sporadic)"	"18y"	"macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy; MRI brain atypical"	"2y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346341"	"01638"	"00457891"	"00006"	"Unknown"	"17y"	"no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical"	"9y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346342"	"01638"	"00457892"	"00006"	"Unknown"	"8y"	"no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical"	"<1y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346343"	"01638"	"00457893"	"00006"	"Isolated (sporadic)"	"13y"	"no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical"	"5y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346344"	"01638"	"00457894"	"00006"	"Isolated (sporadic)"	"3m15d"	"3m15d-deceased; no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; pathology from autopsy; MRI brain typical"	"1m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346345"	"01638"	"00457895"	"00006"	"Isolated (sporadic)"	"38d"	"38d-deceased; macrocephaly (75th percentile), rapidly expanding prior to death; seizures; no spasticity; no bulbar/pseudobulbar signs; pathology from autopsy; MRI brain typical"	"1d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346346"	"01638"	"00457896"	"00006"	"Isolated (sporadic)"	"20y"	"no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical"	"3y6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346347"	"01638"	"00457897"	"00006"	"Isolated (sporadic)"	"4m"	"4m-deceased; macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; pathology from autopsy;"	"1d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346348"	"01638"	"00457898"	"00006"	"Isolated (sporadic)"	"1y6m"	"no macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; cognitive defect; MRI brain typical"	"1m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346349"	"01638"	"00457899"	"00006"	"Isolated (sporadic)"	"6m"	"6m-deceased; macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical"	"1m15d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346350"	"01638"	"00457900"	"00006"	"Unknown"	"2y"	"macrocephaly; bulbar and/or pseudobulbar signs; cognitive defect; pathology from biopsy; MRI brain typical"	"2m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346351"	"01638"	"00457901"	"00006"	"Isolated (sporadic)"	"6m"	"macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; no ataxia; MRI brain typical"	"3m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346352"	"01638"	"00457902"	"00006"	"Isolated (sporadic)"	"4y"	"no macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical"	"1y6m"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346353"	"01638"	"00457903"	"00006"	"Unknown"	"25y"	"no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy; MRI brain typical"	"10y"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, juvenile"	""
"0000346354"	"01638"	"00457904"	"00006"	"Unknown"	"8m"	"8m-deceased; no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; MRI brain atypical"	"<7d"	""	""	""	""	""	""	""	""	""	"ALXDRD"	"Alexander disease, infantile"	""
"0000346395"	"01638"	"00457945"	"00006"	"Isolated (sporadic)"	"21y"	"see paper; ..., 13y-slowly progressive motor/mental deterioration, slurred nasal voice, elevation αB-crystallin/HSP27 in CSF, characteristic neuroimaging findings (frontal dominant leukodystrophy with cyst formation, prominent involvement arcuate fibers, diffuse symmetric lesions basal nuclei, subependymal stripes around ateral ventricle); 8y-generalized febrile convulsion with bilateral frontal spikes, school performance declined, motor function worsened; 21y-walk short distances independently, speak slowly in simple sentences, play video games"	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"juvenile Alexander disease"	""
"0000346396"	"00198"	"00457946"	"00006"	"Unknown"	"53y"	"see paper; ..., 53y-deceased (aspiration pneumonia); 33y-after fall with head trauma, developed progressive right side–dominant tetraparesis with exaggerated tendon reflexes, Babinski signs, falling easily; 51y-transient loss consciousness caused by fall, became bedridden (exacerbated spastic tetraplegia); dysarthria, dysphagia, urinary retention"	""	""	""	""	"33y"	""	""	""	""	""	"ALXDRD"	"tetraparesis"	""
"0000346397"	"00198"	"00457947"	"00006"	"Unknown"	"48y"	"see paper; ..., 48y-progressive spastic gait, gradually could not raise left arm; mild spastic left hemiparesis, slightly hemispastic gait without sensory disturbance; tendon reflexes bilaterally exaggerated with Babinski signs; eye movements saccadic, lateral gaze nystagmoid jerk; no dysarthria, no dysphagia, no tongue atrophy, no fasciculation, no palatal myoclonus"	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"spastic gait"	""
"0000346398"	"01638"	"00457948"	"00006"	"Unknown"	"00y00m38d"	"see paper; ..., 38d deceased (prolonged seizures, respiratory failure); 1d-poor feeding; 5d-emesis, poor feeding"	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"infantile Alexander disease"	""
"0000346399"	"01638"	"00457949"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., bulbar signs, sleep disturbance (mainly sleep apnea), symptoms of dysautonomia, dysmorphism; MRI brain younger patients T2 signal abnormalities  medulla (area of demyelination), older patients marked atrophy medulla, no signal abnormalities"	""	""	""	""	""	""	""	""	""	""	"ALXDRD"	"adult Alexander\'s disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 89
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001436"	"00001636"	"1"	"00006"	"00006"	"2013-07-28 14:59:43"	""	""	"arrayCNV"	"DNA"	""	""
"0000227328"	"00226256"	"1"	"01741"	"01741"	"2019-03-05 15:47:36"	""	""	"SEQ"	"DNA"	""	""
"0000275331"	"00274176"	"1"	"00006"	"00006"	"2019-12-24 17:05:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000292926"	"00291758"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292927"	"00291759"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292928"	"00291760"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305714"	"00304585"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000375520"	"00374326"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375936"	"00374742"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375937"	"00374743"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375938"	"00374744"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000420931"	"00419627"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000457392"	"00455776"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000457402"	"00455786"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000457471"	"00455855"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000459368"	"00457748"	"1"	"03544"	"03544"	"2024-11-18 10:47:56"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000459455"	"00457835"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459456"	"00457836"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459457"	"00457837"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459458"	"00457838"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459459"	"00457839"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459460"	"00457840"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459461"	"00457841"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459462"	"00457842"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459463"	"00457843"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459464"	"00457844"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459465"	"00457845"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459466"	"00457846"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459467"	"00457847"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459468"	"00457848"	"1"	"00006"	"00006"	"2024-11-20 12:59:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459471"	"00457851"	"1"	"00006"	"00006"	"2024-11-20 14:27:27"	""	""	"SEQ"	"DNA"	""	""
"0000459472"	"00457852"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459473"	"00457853"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459474"	"00457854"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459475"	"00457855"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459476"	"00457856"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459477"	"00457857"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459478"	"00457858"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459479"	"00457859"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459480"	"00457860"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459481"	"00457861"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459482"	"00457862"	"1"	"00006"	"00006"	"2024-11-20 14:57:20"	""	""	"SEQ"	"DNA"	""	""
"0000459483"	"00457863"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459484"	"00457864"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459485"	"00457865"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459486"	"00457866"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459487"	"00457867"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459488"	"00457868"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459489"	"00457869"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459490"	"00457870"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459491"	"00457871"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459492"	"00457872"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459493"	"00457873"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459494"	"00457874"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459495"	"00457875"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459496"	"00457876"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459497"	"00457877"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459498"	"00457878"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459499"	"00457879"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459500"	"00457880"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459501"	"00457881"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459502"	"00457882"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459503"	"00457883"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459504"	"00457884"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459505"	"00457885"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459506"	"00457886"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459507"	"00457887"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459508"	"00457888"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459509"	"00457889"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459510"	"00457890"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459511"	"00457891"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459512"	"00457892"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459513"	"00457893"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459514"	"00457894"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459515"	"00457895"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459516"	"00457896"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459517"	"00457897"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459518"	"00457898"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459519"	"00457899"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459520"	"00457900"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459521"	"00457901"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459522"	"00457902"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459523"	"00457903"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459524"	"00457904"	"1"	"00006"	"00006"	"2024-11-20 19:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000459565"	"00457945"	"1"	"00006"	"00006"	"2024-11-21 19:13:15"	""	""	"SEQ"	"DNA"	""	""
"0000459566"	"00457946"	"1"	"00006"	"00006"	"2024-11-21 19:27:20"	""	""	"SEQ"	"DNA"	""	""
"0000459567"	"00457947"	"1"	"00006"	"00006"	"2024-11-21 19:33:31"	""	""	"SEQ"	"DNA"	""	""
"0000459568"	"00457948"	"1"	"00006"	"00006"	"2024-11-21 19:42:06"	""	""	"SEQ"	"DNA"	""	""
"0000459569"	"00457949"	"1"	"00006"	"00006"	"2024-11-21 19:52:36"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 65
"{{screeningid}}"	"{{geneid}}"
"0000227328"	"GFAP"
"0000275331"	"GFAP"
"0000375520"	"GFAP"
"0000375936"	"GFAP"
"0000375937"	"GFAP"
"0000375938"	"GFAP"
"0000459471"	"GFAP"
"0000459472"	"GFAP"
"0000459473"	"GFAP"
"0000459474"	"GFAP"
"0000459475"	"GFAP"
"0000459476"	"GFAP"
"0000459477"	"GFAP"
"0000459478"	"GFAP"
"0000459479"	"GFAP"
"0000459480"	"GFAP"
"0000459481"	"GFAP"
"0000459482"	"GFAP"
"0000459483"	"GFAP"
"0000459484"	"GFAP"
"0000459485"	"GFAP"
"0000459486"	"GFAP"
"0000459487"	"GFAP"
"0000459488"	"GFAP"
"0000459489"	"GFAP"
"0000459490"	"GFAP"
"0000459491"	"GFAP"
"0000459492"	"GFAP"
"0000459493"	"GFAP"
"0000459494"	"GFAP"
"0000459495"	"GFAP"
"0000459496"	"GFAP"
"0000459497"	"GFAP"
"0000459498"	"GFAP"
"0000459499"	"GFAP"
"0000459500"	"GFAP"
"0000459501"	"GFAP"
"0000459502"	"GFAP"
"0000459503"	"GFAP"
"0000459504"	"GFAP"
"0000459505"	"GFAP"
"0000459506"	"GFAP"
"0000459507"	"GFAP"
"0000459508"	"GFAP"
"0000459509"	"GFAP"
"0000459510"	"GFAP"
"0000459511"	"GFAP"
"0000459512"	"GFAP"
"0000459513"	"GFAP"
"0000459514"	"GFAP"
"0000459515"	"GFAP"
"0000459516"	"GFAP"
"0000459517"	"GFAP"
"0000459518"	"GFAP"
"0000459519"	"GFAP"
"0000459520"	"GFAP"
"0000459521"	"GFAP"
"0000459522"	"GFAP"
"0000459523"	"GFAP"
"0000459524"	"GFAP"
"0000459565"	"GFAP"
"0000459566"	"GFAP"
"0000459567"	"GFAP"
"0000459568"	"GFAP"
"0000459569"	"GFAP"


## 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 = 227
"{{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}}"
"0000019225"	"0"	"55"	"17"	"42792021"	"43147305"	"del"	"0"	"00006"	"DBF4B_000002"	"g.42792021_43147305del"	""	""	""	""	"array 42792021–43147305x1"	"Unknown"	""	""	"0"	""	""	"g.44714653_45069937del"	""	"VUS"	""
"0000253539"	"0"	"10"	"17"	"42992759"	"42992759"	"subst"	"0.00208953"	"01943"	"GFAP_000022"	"g.42992759A>G"	""	""	""	"GFAP(NM_001131019.2):c.96T>C (p.(Gly32=)), GFAP(NM_002055.4):c.96T>C (p.G32=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44915391A>G"	""	"benign"	""
"0000266521"	"0"	"10"	"17"	"42980189"	"42980189"	"subst"	"0.271987"	"02325"	"CCDC103_000005"	"g.42980189G>A"	""	""	""	"CCDC103(NM_001258397.3):c.*483G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44902821G>A"	""	"benign"	""
"0000266522"	"0"	"10"	"17"	"42979670"	"42979670"	"subst"	"0.268651"	"02325"	"CCDC103_000003"	"g.42979670C>A"	""	""	""	"CCDC103(NM_001258397.3):c.277-16C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44902302C>A"	""	"benign"	""
"0000281021"	"0"	"10"	"17"	"42987524"	"42987524"	"subst"	"0.268691"	"02325"	"GFAP_000003"	"g.42987524T>C"	""	""	""	"GFAP(NM_001131019.3):c.1276A>G (p.T426A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44910156T>C"	""	"benign"	""
"0000281022"	"0"	"30"	"17"	"42992715"	"42992715"	"subst"	"0.00498603"	"02325"	"GFAP_000021"	"g.42992715G>A"	""	""	""	"GFAP(NM_001131019.2):c.140C>T (p.(Pro47Leu)), GFAP(NM_002055.5):c.140C>T (p.P47L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44915347G>A"	""	"likely benign"	""
"0000281023"	"0"	"30"	"17"	"42992526"	"42992526"	"subst"	"0.000268092"	"02325"	"GFAP_000019"	"g.42992526G>C"	""	""	""	"GFAP(NM_002055.4):c.329C>G (p.T110S), GFAP(NM_002055.5):c.329C>G (p.T110S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44915158G>C"	""	"likely benign"	""
"0000284626"	"0"	"30"	"17"	"42985442"	"42985442"	"subst"	"8.54165E-5"	"02326"	"GFAP_000001"	"g.42985442C>T"	""	""	""	"GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44908074C>T"	""	"likely benign"	""
"0000288289"	"0"	"30"	"17"	"42987946"	"42987946"	"subst"	"9.20381E-5"	"01943"	"GFAP_000007"	"g.42987946C>T"	""	""	""	"GFAP(NM_001242376.1):c.1208G>A (p.S403N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44910578C>T"	""	"likely benign"	""
"0000288290"	"0"	"30"	"17"	"42992612"	"42992612"	"subst"	"0"	"01943"	"GFAP_000020"	"g.42992612G>A"	""	""	""	"GFAP(NM_002055.4):c.243C>T (p.A81=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44915244G>A"	""	"likely benign"	""
"0000288292"	"0"	"50"	"17"	"42989053"	"42989053"	"subst"	"3.2918E-5"	"01943"	"GFAP_000009"	"g.42989053G>A"	""	""	""	"GFAP(NM_001363846.1):c.893C>T (p.S298F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44911685G>A"	""	"VUS"	""
"0000325447"	"0"	"50"	"17"	"42978401"	"42978401"	"subst"	"0"	"01804"	"CCDC103_000002"	"g.42978401T>C"	""	""	""	"CCDC103(NM_001258395.1):c.35T>C (p.(Leu12Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44901033T>C"	""	"VUS"	""
"0000325448"	"0"	"30"	"17"	"42980166"	"42980166"	"subst"	"0"	"01804"	"CCDC103_000004"	"g.42980166A>G"	""	""	""	"CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44902798A>G"	""	"likely benign"	""
"0000325449"	"0"	"30"	"17"	"42987512"	"42987512"	"subst"	"0.022977"	"01804"	"GFAP_000002"	"g.42987512G>A"	""	""	""	"GFAP(NM_001131019.2):c.1288C>T (p.(Arg430Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44910144G>A"	""	"likely benign"	""
"0000325450"	"0"	"30"	"17"	"42987562"	"42987562"	"subst"	"0.00037844"	"01804"	"GFAP_000004"	"g.42987562C>T"	""	""	""	"GFAP(NM_001131019.2):c.1238G>A (p.(Arg413Gln)), GFAP(NM_001363846.1):c.1238G>A (p.R413Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44910194C>T"	""	"likely benign"	""
"0000325451"	"0"	"50"	"17"	"42987595"	"42987595"	"subst"	"1.63092E-5"	"01804"	"GFAP_000005"	"g.42987595T>G"	""	""	""	"GFAP(NM_001131019.2):c.1205A>C (p.(Lys402Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44910227T>G"	""	"VUS"	""
"0000325452"	"0"	"50"	"17"	"42987844"	"42987844"	"subst"	"1.9668E-5"	"01804"	"GFAP_000006"	"g.42987844C>T"	""	""	""	"GFAP(NM_001131019.2):c.1171+139G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44910476C>T"	""	"VUS"	""
"0000325454"	"0"	"30"	"17"	"42988774"	"42988774"	"subst"	"0.00107506"	"01804"	"GFAP_000008"	"g.42988774C>T"	""	""	""	"GFAP(NM_001131019.2):c.957G>A (p.(Arg319=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44911406C>T"	""	"likely benign"	""
"0000325455"	"0"	"30"	"17"	"42990679"	"42990679"	"subst"	"0.00679479"	"01804"	"GFAP_000010"	"g.42990679C>T"	""	""	""	"GFAP(NM_001131019.2):c.738G>A (p.(Ala246=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44913311C>T"	""	"likely benign"	""
"0000325456"	"0"	"30"	"17"	"42990697"	"42990697"	"subst"	"0.0055843"	"01804"	"GFAP_000011"	"g.42990697C>A"	""	""	""	"GFAP(NM_001131019.2):c.720G>T (p.(Thr240=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44913329C>A"	""	"likely benign"	""
"0000325457"	"0"	"50"	"17"	"42991166"	"42991166"	"subst"	"4.87325E-5"	"01804"	"GFAP_000012"	"g.42991166C>T"	""	""	""	"GFAP(NM_001131019.2):c.548G>A (p.(Arg183His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44913798C>T"	""	"VUS"	""
"0000325458"	"0"	"50"	"17"	"42991209"	"42991209"	"subst"	"0"	"01804"	"GFAP_000013"	"g.42991209G>A"	""	""	""	"GFAP(NM_001131019.2):c.523-18C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44913841G>A"	""	"VUS"	""
"0000325459"	"0"	"30"	"17"	"42991449"	"42991449"	"subst"	"0.0109529"	"01804"	"GFAP_000014"	"g.42991449C>T"	""	""	""	"GFAP(NM_001131019.2):c.469G>A (p.(Asp157Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44914081C>T"	""	"likely benign"	""
"0000325460"	"0"	"30"	"17"	"42991469"	"42991469"	"dup"	"0"	"01804"	"GFAP_000016"	"g.42991469dup"	""	""	""	"GFAP(NM_001131019.2):c.462-8dup (p.(=)), GFAP(NM_002055.4):c.462-8dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44914101dup"	""	"likely benign"	""
"0000325461"	"0"	"50"	"17"	"42992461"	"42992461"	"subst"	"4.49556E-5"	"01804"	"GFAP_000017"	"g.42992461C>T"	""	""	""	"GFAP(NM_001131019.2):c.394G>A (p.(Ala132Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44915093C>T"	""	"VUS"	""
"0000325462"	"0"	"50"	"17"	"42992485"	"42992485"	"subst"	"0"	"01804"	"GFAP_000018"	"g.42992485G>T"	""	""	""	"GFAP(NM_001131019.2):c.370C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44915117G>T"	""	"VUS"	""
"0000340067"	"0"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"02327"	"GFAP_000023"	"g.42989088C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0000340068"	"0"	"10"	"17"	"42990679"	"42990679"	"subst"	"0.00679479"	"02327"	"GFAP_000010"	"g.42990679C>T"	""	""	""	"GFAP(NM_001131019.2):c.738G>A (p.(Ala246=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44913311C>T"	""	"benign"	""
"0000343939"	"0"	"10"	"17"	"42991449"	"42991449"	"subst"	"0.0109529"	"02327"	"GFAP_000014"	"g.42991449C>T"	""	""	""	"GFAP(NM_001131019.2):c.469G>A (p.(Asp157Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44914081C>T"	""	"benign"	""
"0000464330"	"0"	"50"	"17"	"42988659"	"42988659"	"subst"	"0"	"01741"	"GFAP_000024"	"g.42988659C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.44911291C>T"	""	"pathogenic"	""
"0000561955"	"0"	"50"	"17"	"42978436"	"42978436"	"subst"	"4.2917E-6"	"01804"	"EFTUD2_000117"	"g.42978436G>A"	""	""	""	"CCDC103(NM_001258395.1):c.70G>A (p.(Glu24Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44901068G>A"	""	"VUS"	""
"0000561956"	"0"	"50"	"17"	"42979917"	"42979917"	"subst"	"0.0012226"	"01804"	"CCDC103_000001"	"g.42979917A>C"	""	""	""	"CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44902549A>C"	""	"VUS"	""
"0000561957"	"0"	"90"	"17"	"42979917"	"42979917"	"subst"	"0.0012226"	"02325"	"CCDC103_000001"	"g.42979917A>C"	""	""	""	"CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44902549A>C"	""	"pathogenic"	""
"0000561958"	"0"	"90"	"17"	"42979917"	"42979917"	"subst"	"0.0012226"	"02329"	"CCDC103_000001"	"g.42979917A>C"	""	""	""	"CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44902549A>C"	""	"pathogenic"	""
"0000561959"	"0"	"50"	"17"	"42984719"	"42984719"	"subst"	"0"	"02327"	"GFAP_000025"	"g.42984719A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44907351A>G"	""	"VUS"	""
"0000561960"	"0"	"50"	"17"	"42985442"	"42985442"	"subst"	"8.54165E-5"	"01804"	"GFAP_000001"	"g.42985442C>T"	""	""	""	"GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44908074C>T"	""	"VUS"	""
"0000561961"	"0"	"30"	"17"	"42985468"	"42985468"	"subst"	"4.06303E-6"	"01943"	"GFAP_000026"	"g.42985468G>A"	""	""	""	"GFAP(NM_002055.4):c.1221C>T (p.N407=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44908100G>A"	""	"likely benign"	""
"0000561963"	"0"	"30"	"17"	"42987562"	"42987562"	"subst"	"0.00037844"	"01943"	"GFAP_000004"	"g.42987562C>T"	""	""	""	"GFAP(NM_001131019.2):c.1238G>A (p.(Arg413Gln)), GFAP(NM_001363846.1):c.1238G>A (p.R413Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44910194C>T"	""	"likely benign"	""
"0000561964"	"0"	"50"	"17"	"42987565"	"42987569"	"del"	"0"	"01804"	"GFAP_000028"	"g.42987565_42987569del"	""	""	""	"GFAP(NM_001131019.2):c.1233_1237del (p.(Ile412SerfsTer32))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44910197_44910201del"	""	"VUS"	""
"0000561965"	"0"	"30"	"17"	"42988700"	"42988700"	"subst"	"0"	"02327"	"GFAP_000029"	"g.42988700C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44911332C>A"	""	"likely benign"	""
"0000561966"	"0"	"30"	"17"	"42988784"	"42988784"	"subst"	"0.000265142"	"02325"	"GFAP_000030"	"g.42988784C>T"	""	""	""	"GFAP(NM_001131019.2):c.947G>A (p.(Arg316Gln)), GFAP(NM_001363846.1):c.947G>A (p.R316Q), GFAP(NM_002055.5):c.947G>A (p.R316Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44911416C>T"	""	"likely benign"	""
"0000561967"	"0"	"50"	"17"	"42988811"	"42988811"	"subst"	"1.24132E-5"	"01943"	"GFAP_000031"	"g.42988811T>G"	""	""	""	"GFAP(NM_002055.4):c.920A>C (p.E307A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44911443T>G"	""	"VUS"	""
"0000561968"	"0"	"50"	"17"	"42989055"	"42989055"	"subst"	"0"	"01804"	"GFAP_000032"	"g.42989055C>T"	""	""	""	"GFAP(NM_001131019.2):c.891G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44911687C>T"	""	"VUS"	""
"0000561969"	"0"	"30"	"17"	"42989063"	"42989063"	"subst"	"0.0450192"	"01804"	"GFAP_000033"	"g.42989063C>T"	""	""	""	"GFAP(NM_001131019.2):c.883G>A (p.(Asp295Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44911695C>T"	""	"likely benign"	""
"0000561970"	"0"	"50"	"17"	"42990741"	"42990741"	"subst"	"0.000170593"	"01943"	"GFAP_000034"	"g.42990741C>T"	""	""	""	"GFAP(NM_001131019.2):c.676G>A (p.(Val226Met)), GFAP(NM_002055.4):c.676G>A (p.V226M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44913373C>T"	""	"VUS"	""
"0000561971"	"0"	"30"	"17"	"42990742"	"42990742"	"subst"	"0.000235588"	"01943"	"GFAP_000035"	"g.42990742G>A"	""	""	""	"GFAP(NM_002055.4):c.675C>T (p.D225=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44913374G>A"	""	"likely benign"	""
"0000561972"	"0"	"50"	"17"	"42990768"	"42990768"	"subst"	"1.21911E-5"	"01804"	"GFAP_000036"	"g.42990768G>A"	""	""	""	"GFAP(NM_001131019.2):c.649C>T (p.(Arg217Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44913400G>A"	""	"VUS"	""
"0000561973"	"0"	"30"	"17"	"42991377"	"42991377"	"subst"	"0"	"01804"	"GFAP_000037"	"g.42991377T>A"	""	""	""	"GFAP(NM_001131019.2):c.522+19A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44914009T>A"	""	"likely benign"	""
"0000561974"	"0"	"50"	"17"	"42991382"	"42991382"	"subst"	"0"	"01804"	"GFAP_000038"	"g.42991382T>A"	""	""	""	"GFAP(NM_001131019.2):c.522+14A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44914014T>A"	""	"VUS"	""
"0000561975"	"0"	"50"	"17"	"42991388"	"42991388"	"subst"	"0"	"01804"	"GFAP_000039"	"g.42991388T>A"	""	""	""	"GFAP(NM_001131019.2):c.522+8A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44914020T>A"	""	"VUS"	""
"0000561976"	"0"	"50"	"17"	"42991392"	"42991392"	"subst"	"0"	"01804"	"GFAP_000040"	"g.42991392T>A"	""	""	""	"GFAP(NM_001131019.2):c.522+4A>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44914024T>A"	""	"VUS"	""
"0000561977"	"0"	"50"	"17"	"42991433"	"42991433"	"subst"	"0"	"01804"	"GFAP_000041"	"g.42991433C>T"	""	""	""	"GFAP(NM_002055.4):c.485G>A (p.(Arg162Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44914065C>T"	""	"VUS"	""
"0000561978"	"0"	"10"	"17"	"42991469"	"42991469"	"dup"	"0"	"01943"	"GFAP_000016"	"g.42991469dup"	""	""	""	"GFAP(NM_001131019.2):c.462-8dup (p.(=)), GFAP(NM_002055.4):c.462-8dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44914101dup"	""	"benign"	""
"0000561979"	"0"	"30"	"17"	"42992474"	"42992474"	"subst"	"0.000142601"	"01943"	"GFAP_000042"	"g.42992474G>A"	""	""	""	"GFAP(NM_001363846.1):c.381C>T (p.L127=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915106G>A"	""	"likely benign"	""
"0000561981"	"0"	"50"	"17"	"42992542"	"42992542"	"subst"	"0.0012063"	"01943"	"GFAP_000044"	"g.42992542G>A"	""	""	""	"GFAP(NM_001131019.2):c.313C>T (p.(Arg105Trp)), GFAP(NM_002055.4):c.313C>T (p.R105W), GFAP(NM_002055.5):c.313C>T (p.R105W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915174G>A"	""	"VUS"	""
"0000561982"	"0"	"50"	"17"	"42992542"	"42992542"	"subst"	"0.0012063"	"01804"	"GFAP_000044"	"g.42992542G>A"	""	""	""	"GFAP(NM_001131019.2):c.313C>T (p.(Arg105Trp)), GFAP(NM_002055.4):c.313C>T (p.R105W), GFAP(NM_002055.5):c.313C>T (p.R105W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915174G>A"	""	"VUS"	""
"0000561983"	"0"	"30"	"17"	"42992542"	"42992542"	"subst"	"0.0012063"	"02325"	"GFAP_000044"	"g.42992542G>A"	""	""	""	"GFAP(NM_001131019.2):c.313C>T (p.(Arg105Trp)), GFAP(NM_002055.4):c.313C>T (p.R105W), GFAP(NM_002055.5):c.313C>T (p.R105W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915174G>A"	""	"likely benign"	""
"0000561985"	"0"	"50"	"17"	"42992596"	"42992596"	"subst"	"0"	"02327"	"GFAP_000046"	"g.42992596C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915228C>T"	""	"VUS"	""
"0000561986"	"0"	"30"	"17"	"42992714"	"42992714"	"subst"	"0.038915"	"01804"	"GFAP_000047"	"g.42992714C>T"	""	""	""	"GFAP(NM_001131019.2):c.141G>A (p.(Pro47=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915346C>T"	""	"likely benign"	""
"0000561987"	"0"	"30"	"17"	"42992715"	"42992715"	"subst"	"0.00498603"	"01804"	"GFAP_000021"	"g.42992715G>A"	""	""	""	"GFAP(NM_001131019.2):c.140C>T (p.(Pro47Leu)), GFAP(NM_002055.5):c.140C>T (p.P47L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915347G>A"	""	"likely benign"	""
"0000561988"	"0"	"50"	"17"	"42992729"	"42992729"	"subst"	"4.09944E-6"	"01804"	"GFAP_000048"	"g.42992729C>T"	""	""	""	"GFAP(NM_001131019.2):c.126G>A (p.(Met42Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915361C>T"	""	"VUS"	""
"0000561989"	"0"	"30"	"17"	"42992759"	"42992759"	"subst"	"0.00208953"	"01804"	"GFAP_000022"	"g.42992759A>G"	""	""	""	"GFAP(NM_001131019.2):c.96T>C (p.(Gly32=)), GFAP(NM_002055.4):c.96T>C (p.G32=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915391A>G"	""	"likely benign"	""
"0000561990"	"0"	"50"	"17"	"42992812"	"42992812"	"subst"	"9.54621E-5"	"01804"	"GFAP_000049"	"g.42992812C>T"	""	""	""	"GFAP(NM_001131019.2):c.43G>A (p.(Val15Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915444C>T"	""	"VUS"	""
"0000561991"	"0"	"30"	"17"	"42992821"	"42992821"	"subst"	"7.36181E-5"	"02325"	"GFAP_000050"	"g.42992821G>A"	""	""	""	"GFAP(NM_001131019.2):c.34C>T (p.(Arg12Cys)), GFAP(NM_002055.5):c.34C>T (p.R12C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915453G>A"	""	"likely benign"	""
"0000616630"	"0"	"50"	"17"	"42987509"	"42987509"	"subst"	"7.32017E-5"	"01943"	"GFAP_000027"	"g.42987509C>T"	""	""	""	"GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44910141C>T"	""	"VUS"	""
"0000616631"	"0"	"50"	"17"	"42990750"	"42990750"	"subst"	"0.000345265"	"01943"	"GFAP_000052"	"g.42990750C>G"	""	""	""	"GFAP(NM_001363846.1):c.667G>C (p.E223Q), GFAP(NM_002055.4):c.667G>C (p.E223Q), GFAP(NM_002055.5):c.667G>C (p.(Glu223Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44913382C>G"	""	"VUS"	""
"0000616632"	"0"	"30"	"17"	"42992526"	"42992526"	"subst"	"0.000268092"	"01943"	"GFAP_000019"	"g.42992526G>C"	""	""	""	"GFAP(NM_002055.4):c.329C>G (p.T110S), GFAP(NM_002055.5):c.329C>G (p.T110S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915158G>C"	""	"likely benign"	""
"0000616633"	"0"	"30"	"17"	"42992568"	"42992568"	"subst"	"6.49762E-5"	"01943"	"GFAP_000053"	"g.42992568G>A"	""	""	""	"GFAP(NM_002055.4):c.287C>T (p.A96V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915200G>A"	""	"likely benign"	""
"0000616634"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"02325"	"GFAP_000054"	"g.42992619C>A"	""	""	""	"GFAP(NM_002055.5):c.236G>T (p.R79L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44915251C>A"	""	"pathogenic"	""
"0000623696"	"0"	"50"	"17"	"42985467"	"42985467"	"subst"	"2.84407E-5"	"02325"	"GFAP_000051"	"g.42985467T>C"	""	""	""	"GFAP(NM_002055.5):c.1222A>G (p.I408V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44908099T>C"	""	"VUS"	""
"0000629295"	"0"	"90"	"17"	"42988631"	"42988631"	"subst"	"0"	"00006"	"GFAP_000055"	"g.42988631C>G"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911263C>G"	""	"pathogenic (dominant)"	""
"0000649615"	"1"	"30"	"17"	"42984085"	"42984085"	"subst"	"0"	"03575"	"GFAP_000056"	"g.42984085C>T"	"22/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"22 heterozygous, no homozygous; {DB:CLININrs72828813}"	"Germline"	""	"rs72828813"	"0"	""	""	"g.44906717C>T"	""	"likely benign"	""
"0000649616"	"1"	"10"	"17"	"42987512"	"42987512"	"subst"	"0.022977"	"03575"	"GFAP_000002"	"g.42987512G>A"	"55/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"55 heterozygous; {DB:CLININrs78994946}"	"Germline"	""	"rs78994946"	"0"	""	""	"g.44910144G>A"	""	"benign"	""
"0000649617"	"1"	"30"	"17"	"42991449"	"42991449"	"subst"	"0.0109529"	"03575"	"GFAP_000014"	"g.42991449C>T"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs59291670}"	"Germline"	""	"rs59291670"	"0"	""	""	"g.44914081C>T"	""	"likely benign"	""
"0000658153"	"0"	"50"	"17"	"42977229"	"42977229"	"subst"	"0"	"01804"	"EFTUD2_000125"	"g.42977229T>C"	""	""	""	"CCDC103(NM_001258397.1):c.-10+2T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44899861T>C"	""	"VUS"	""
"0000658154"	"0"	"50"	"17"	"42988784"	"42988784"	"subst"	"0.000265142"	"01943"	"GFAP_000030"	"g.42988784C>T"	""	""	""	"GFAP(NM_001131019.2):c.947G>A (p.(Arg316Gln)), GFAP(NM_001363846.1):c.947G>A (p.R316Q), GFAP(NM_002055.5):c.947G>A (p.R316Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44911416C>T"	""	"VUS"	""
"0000669402"	"3"	"10"	"17"	"42987512"	"42987512"	"subst"	"0.022977"	"03575"	"GFAP_000002"	"g.42987512G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs78994946}"	"Germline"	""	"rs78994946"	"0"	""	""	"g.44910144G>A"	""	"benign"	""
"0000680902"	"0"	"30"	"17"	"42982282"	"42982282"	"subst"	"0"	"01804"	"GFAP_000057"	"g.42982282A>C"	""	""	""	"CCDC103(XM_005257352.1):c.1085A>C (p.(His362Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726455"	"0"	"50"	"17"	"42987509"	"42987509"	"subst"	"7.32017E-5"	"02329"	"GFAP_000027"	"g.42987509C>T"	""	""	""	"GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726456"	"0"	"50"	"17"	"42992592"	"42992592"	"subst"	"2.43673E-5"	"02325"	"GFAP_000058"	"g.42992592C>T"	""	""	""	"GFAP(NM_002055.5):c.263G>A (p.R88H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726457"	"0"	"90"	"17"	"42992593"	"42992593"	"subst"	"0"	"02329"	"GFAP_000045"	"g.42992593G>A"	""	""	""	"GFAP(NM_002055.5):c.262C>T (p.R88C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000786871"	"0"	"90"	"17"	"42992593"	"42992593"	"subst"	"0"	"00006"	"GFAP_000045"	"g.42992593G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44915225G>A"	""	"pathogenic"	""
"0000787287"	"0"	"50"	"17"	"42992626"	"42992626"	"subst"	"0"	"00006"	"GFAP_000061"	"g.42992626T>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44915258T>C"	""	"VUS"	""
"0000787288"	"0"	"50"	"17"	"42992493"	"42992493"	"subst"	"1.21952E-5"	"00006"	"GFAP_000060"	"g.42992493C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs769619261"	"0"	""	""	"g.44915125C>T"	""	"VUS"	""
"0000787289"	"0"	"50"	"17"	"42989045"	"42989045"	"subst"	"1.23891E-5"	"00006"	"GFAP_000059"	"g.42989045C>G"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs1265636628"	"0"	""	""	"g.44911677C>G"	""	"VUS"	""
"0000808044"	"0"	"50"	"17"	"42985433"	"42985433"	"subst"	"1.6271E-5"	"02329"	"GFAP_000062"	"g.42985433T>C"	""	""	""	"GFAP(NM_001363846.1):c.1376A>G (p.E459G), GFAP(NM_002055.4):c.1256A>G (p.(Glu419Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808045"	"0"	"30"	"17"	"42987963"	"42987963"	"subst"	"3.47745E-5"	"01943"	"GFAP_000063"	"g.42987963C>G"	""	""	""	"GFAP(NM_001242376.1):c.1191G>C (p.S397=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854954"	"0"	"50"	"17"	"42988643"	"42988643"	"subst"	"0"	"02327"	"GFAP_000066"	"g.42988643A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854955"	"0"	"50"	"17"	"42992467"	"42992467"	"subst"	"0.00010606"	"02325"	"GFAP_000070"	"g.42992467G>C"	""	""	""	"GFAP(NM_002055.5):c.388C>G (p.(Leu130Val), p.L130V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854956"	"0"	"30"	"17"	"42992603"	"42992603"	"subst"	"2.43671E-5"	"01943"	"GFAP_000071"	"g.42992603G>A"	""	""	""	"GFAP(NM_002055.4):c.252C>T (p.I84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865317"	"0"	"50"	"17"	"42987563"	"42987563"	"subst"	"0.000118014"	"01804"	"GFAP_000064"	"g.42987563G>A"	""	""	""	"GFAP(NM_001131019.2):c.1237C>T (p.(Arg413*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865318"	"0"	"30"	"17"	"42987962"	"42987962"	"subst"	"2.90306E-5"	"01804"	"GFAP_000065"	"g.42987962A>G"	""	""	""	"GFAP(NM_001131019.2):c.1171+21T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865319"	"0"	"30"	"17"	"42988784"	"42988784"	"subst"	"0.000265142"	"01804"	"GFAP_000030"	"g.42988784C>T"	""	""	""	"GFAP(NM_001131019.2):c.947G>A (p.(Arg316Gln)), GFAP(NM_001363846.1):c.947G>A (p.R316Q), GFAP(NM_002055.5):c.947G>A (p.R316Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865320"	"0"	"30"	"17"	"42990741"	"42990741"	"subst"	"0.000170593"	"01804"	"GFAP_000034"	"g.42990741C>T"	""	""	""	"GFAP(NM_001131019.2):c.676G>A (p.(Val226Met)), GFAP(NM_002055.4):c.676G>A (p.V226M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865321"	"0"	"30"	"17"	"42991202"	"42991202"	"subst"	"4.062E-6"	"01804"	"GFAP_000067"	"g.42991202A>G"	""	""	""	"GFAP(NM_001131019.2):c.523-11T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865322"	"0"	"50"	"17"	"42991397"	"42991397"	"subst"	"0"	"01804"	"GFAP_000068"	"g.42991397T>A"	""	""	""	"GFAP(NM_001131019.2):c.521A>T (p.(Gln174Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865323"	"0"	"30"	"17"	"42992385"	"42992385"	"subst"	"0"	"01943"	"GFAP_000069"	"g.42992385C>T"	""	""	""	"GFAP(NM_001363846.1):c.461+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000881290"	"0"	"90"	"17"	"42992613"	"42992613"	"subst"	"0"	"02300"	"GFAP_000072"	"g.42992613G>T"	""	"{PMID:Marinakis 2021:34008892}"	""	""	"ACMG PS2, PM1, PM2, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.44915245G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000893966"	"0"	"90"	"17"	"42985443"	"42985443"	"subst"	"0"	"02325"	"GFAP_000073"	"g.42985443G>A"	""	""	""	"GFAP(NM_002055.5):c.1246C>T (p.R416W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000893967"	"0"	"50"	"17"	"42988682"	"42988682"	"subst"	"0"	"02327"	"GFAP_000074"	"g.42988682T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893968"	"0"	"50"	"17"	"42989089"	"42989089"	"subst"	"0"	"02327"	"GFAP_000075"	"g.42989089C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893969"	"0"	"50"	"17"	"42990725"	"42990725"	"subst"	"0"	"02327"	"GFAP_000076"	"g.42990725A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893970"	"0"	"30"	"17"	"42992435"	"42992435"	"subst"	"4.08563E-6"	"01804"	"GFAP_000077"	"g.42992435C>T"	""	""	""	"GFAP(NM_001131019.2):c.420G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000893971"	"0"	"50"	"17"	"42992449"	"42992449"	"subst"	"8.166E-6"	"01804"	"GFAP_000078"	"g.42992449G>A"	""	""	""	"GFAP(NM_001131019.2):c.406C>T (p.(Arg136Trp)), GFAP(NM_002055.5):c.406C>T (p.R136W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893972"	"0"	"30"	"17"	"42992696"	"42992696"	"subst"	"0.000195343"	"01804"	"GFAP_000079"	"g.42992696G>A"	""	""	""	"GFAP(NM_001131019.2):c.159C>T (p.(Ser53=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000893973"	"0"	"30"	"17"	"42992821"	"42992821"	"subst"	"7.36181E-5"	"01804"	"GFAP_000050"	"g.42992821G>A"	""	""	""	"GFAP(NM_001131019.2):c.34C>T (p.(Arg12Cys)), GFAP(NM_002055.5):c.34C>T (p.R12C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914867"	"0"	"30"	"17"	"42989094"	"42989094"	"subst"	"8.18331E-6"	"01804"	"GFAP_000080"	"g.42989094G>A"	""	""	""	"GFAP(NM_001131019.2):c.852C>T (p.(Asp284=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926518"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"02325"	"GFAP_000081"	"g.42992620G>A"	""	""	""	"GFAP(NM_002055.5):c.235C>T (p.R79C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000926519"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"02329"	"GFAP_000081"	"g.42992620G>A"	""	""	""	"GFAP(NM_002055.5):c.235C>T (p.R79C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000968977"	"0"	"50"	"17"	"42992449"	"42992449"	"subst"	"8.166E-6"	"02329"	"GFAP_000078"	"g.42992449G>A"	""	""	""	"GFAP(NM_001131019.2):c.406C>T (p.(Arg136Trp)), GFAP(NM_002055.5):c.406C>T (p.R136W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000968978"	"0"	"70"	"17"	"42992603"	"42992603"	"subst"	"0"	"02327"	"GFAP_000082"	"g.42992603G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000982551"	"0"	"50"	"17"	"42978397"	"42978397"	"subst"	"0.000233832"	"01804"	"EFTUD2_000147"	"g.42978397G>C"	""	""	""	"CCDC103(NM_001258395.1):c.31G>C (p.(Ala11Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982552"	"0"	"50"	"17"	"42979785"	"42979785"	"subst"	"4.87401E-5"	"01804"	"EFTUD2_000148"	"g.42979785G>A"	""	""	""	"CCDC103(NM_213607.3):c.329G>A (p.(Arg110Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982553"	"0"	"50"	"17"	"42988006"	"42988006"	"subst"	"0"	"02329"	"GFAP_000083"	"g.42988006G>A"	""	""	""	"GFAP(NM_002055.5):c.1148C>T (p.T383I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982554"	"0"	"30"	"17"	"42992467"	"42992467"	"subst"	"0.00010606"	"01804"	"GFAP_000070"	"g.42992467G>C"	""	""	""	"GFAP(NM_002055.5):c.388C>G (p.(Leu130Val), p.L130V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003325"	"0"	"50"	"17"	"42985433"	"42985433"	"subst"	"1.6271E-5"	"01804"	"GFAP_000062"	"g.42985433T>C"	""	""	""	"GFAP(NM_001363846.1):c.1376A>G (p.E459G), GFAP(NM_002055.4):c.1256A>G (p.(Glu419Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003326"	"0"	"30"	"17"	"42988010"	"42988010"	"subst"	"1.00069E-5"	"01804"	"GFAP_000084"	"g.42988010G>C"	""	""	""	"GFAP(NM_002055.4):c.1144C>G (p.(Gln382Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003327"	"0"	"50"	"17"	"42988013"	"42988013"	"subst"	"0"	"01804"	"GFAP_000085"	"g.42988013C>T"	""	""	""	"GFAP(NM_002055.4):c.1141G>A (p.(Val381Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003328"	"0"	"30"	"17"	"42988715"	"42988715"	"subst"	"2.03065E-5"	"01804"	"GFAP_000086"	"g.42988715T>C"	""	""	""	"GFAP(NM_002055.4):c.1016A>G (p.(Lys339Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003329"	"0"	"30"	"17"	"42988778"	"42988778"	"subst"	"2.03674E-5"	"01804"	"GFAP_000087"	"g.42988778A>G"	""	""	""	"GFAP(NM_002055.4):c.953T>C (p.(Val318Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003330"	"0"	"30"	"17"	"42992635"	"42992635"	"subst"	"0"	"01804"	"GFAP_000088"	"g.42992635T>C"	""	""	""	"GFAP(NM_002055.4):c.220A>G (p.(Met74Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003331"	"0"	"50"	"17"	"42992698"	"42992698"	"subst"	"0"	"01804"	"GFAP_000089"	"g.42992698A>G"	""	""	""	"GFAP(NM_002055.4):c.157T>C (p.(Ser53Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003332"	"0"	"50"	"17"	"42992787"	"42992787"	"subst"	"4.24052E-6"	"01804"	"GFAP_000090"	"g.42992787C>G"	""	""	""	"GFAP(NM_002055.4):c.68G>C (p.(Gly23Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001011895"	"0"	"90"	"17"	"42992596"	"42992596"	"subst"	"0"	"00006"	"GFAP_000091"	"g.42992596C>G"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44915228C>G"	"VCV000066477.1"	"pathogenic"	""
"0001011905"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"00006"	"GFAP_000081"	"g.42992620G>A"	""	"{PMID:Salinas 2020:33084218}"	""	"NM_001242376:c.235C>T"	""	"Unknown"	""	""	"0"	""	""	"g.44915252G>A"	"VCV000016171.1"	"pathogenic"	""
"0001011974"	"0"	"90"	"17"	"42985443"	"42985443"	"subst"	"0"	"00006"	"GFAP_000073"	"g.42985443G>A"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44908075G>A"	"RCV000017552.32"	"pathogenic"	""
"0001017383"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"03544"	"GFAP_000092"	"g.42992619C>T"	""	""	""	""	""	"De novo"	"-"	"rs59285727"	"0"	""	""	"g.44915251C>T"	"{CV:16170}"	"pathogenic (dominant)"	"ACMG"
"0001017482"	"0"	"90"	"17"	"42992629"	"42992629"	"subst"	"0"	"00006"	"GFAP_000125"	"g.42992629G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"240C>T L76F*"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915261G>A"	""	"pathogenic (dominant)"	""
"0001017483"	"0"	"90"	"17"	"42992626"	"42992626"	"subst"	"0"	"00006"	"GFAP_000124"	"g.42992626T>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"243A>T N77Y*"	""	"De novo"	""	""	"0"	""	""	"g.44915258T>A"	""	"pathogenic (dominant)"	""
"0001017484"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"00006"	"GFAP_000092"	"g.42992619C>T"	""	"{PMID:Rodriguez 2001:11567214}"	""	"250G>A R79H"	""	"De novo"	""	""	"0"	""	""	"g.44915251C>T"	""	"pathogenic (dominant)"	""
"0001017485"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"00006"	"GFAP_000092"	"g.42992619C>T"	""	"{PMID:Rodriguez 2001:11567214}"	""	"250G>A R79H"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915251C>T"	""	"pathogenic (dominant)"	""
"0001017486"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"00006"	"GFAP_000092"	"g.42992619C>T"	""	"{PMID:Rodriguez 2001:11567214}"	""	"250G>A R79H"	""	"De novo"	""	""	"0"	""	""	"g.44915251C>T"	""	"pathogenic (dominant)"	""
"0001017487"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"00006"	"GFAP_000092"	"g.42992619C>T"	""	"{PMID:Rodriguez 2001:11567214}"	""	"250G>A R79H"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915251C>T"	""	"pathogenic (dominant)"	""
"0001017488"	"0"	"90"	"17"	"42992593"	"42992593"	"subst"	"0"	"00006"	"GFAP_000045"	"g.42992593G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"276C>T R88C*"	""	"De novo"	""	""	"0"	""	""	"g.44915225G>A"	""	"pathogenic (dominant)"	""
"0001017489"	"0"	"90"	"17"	"42992593"	"42992593"	"subst"	"0"	"00006"	"GFAP_000045"	"g.42992593G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"276C>T R88C*"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915225G>A"	""	"pathogenic (dominant)"	""
"0001017490"	"0"	"90"	"17"	"42992593"	"42992593"	"subst"	"0"	"00006"	"GFAP_000122"	"g.42992593G>T"	""	"{PMID:Rodriguez 2001:11567214}"	""	"276C>A R88S*"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915225G>T"	""	"pathogenic (dominant)"	""
"0001017491"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"729C>T R239C"	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017492"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"729C>T R239C"	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017493"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"729C>T R239C"	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017494"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Rodriguez 2001:11567214}"	""	"729C>T R239C"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017495"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Rodriguez 2001:11567214}"	""	"730G>A R239H"	""	"De novo"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017497"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"00006"	"GFAP_000092"	"g.42992619C>T"	""	"{PMID:Asahina 2006:16168593}"	""	"250G>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915251C>T"	""	"pathogenic (dominant)"	""
"0001017498"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"00006"	"GFAP_000081"	"g.42992620G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"249C>T R79C"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915252G>A"	""	"pathogenic (dominant)"	""
"0001017499"	"0"	"90"	"17"	"42992619"	"42992619"	"subst"	"0"	"00006"	"GFAP_000092"	"g.42992619C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"250G>A R79H"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915251C>T"	""	"pathogenic (dominant)"	""
"0001017500"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"729C>T R239C"	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017501"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"729C>T R239C"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017502"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"729C>T R239C"	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017503"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"729C>T R239C"	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017504"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"730G>A R239H"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017505"	"0"	"90"	"17"	"42990644"	"42990644"	"subst"	"0"	"00006"	"GFAP_000111"	"g.42990644C>G"	""	"{PMID:Brenner 2001:11138011}"	""	"787G>C R258P"	""	"De novo"	""	""	"0"	""	""	"g.44913276C>G"	""	"pathogenic (dominant)"	""
"0001017506"	"0"	"90"	"17"	"42985443"	"42985443"	"subst"	"0"	"00006"	"GFAP_000073"	"g.42985443G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"1260C>T R416W"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44908075G>A"	""	"pathogenic (dominant)"	""
"0001017507"	"0"	"90"	"17"	"42985443"	"42985443"	"subst"	"0"	"00006"	"GFAP_000073"	"g.42985443G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"1260C>T R416W"	""	"De novo"	""	""	"0"	""	""	"g.44908075G>A"	""	"pathogenic (dominant)"	""
"0001017508"	"0"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"00006"	"GFAP_000023"	"g.42989088C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0001017509"	"0"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"00006"	"GFAP_000023"	"g.42989088C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0001017510"	"0"	"10"	"17"	"42992715"	"42992715"	"subst"	"0.00498603"	"00006"	"GFAP_000021"	"g.42992715G>A"	""	"{PMID:Brenner 2001:11138011}"	""	"154C>T"	""	"Germline"	""	""	"0"	""	""	"g.44915347G>A"	""	"benign"	""
"0001017511"	"0"	"10"	"17"	"42984694"	"42984694"	"subst"	"0"	"00006"	"GFAP_000102"	"g.42984694G>C"	""	"{PMID:Brenner 2001:11138011}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44907326G>C"	""	"benign"	""
"0001017512"	"0"	"10"	"17"	"42984694"	"42984694"	"subst"	"0"	"00006"	"GFAP_000102"	"g.42984694G>C"	""	"{PMID:Brenner 2001:11138011}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44907326G>C"	""	"benign"	""
"0001017513"	"0"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"00006"	"GFAP_000023"	"g.42989088C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0001017514"	"0"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"00006"	"GFAP_000023"	"g.42989088C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0001017515"	"0"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"00006"	"GFAP_000023"	"g.42989088C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0001017516"	"0"	"10"	"17"	"42992714"	"42992714"	"subst"	"0.038915"	"00006"	"GFAP_000047"	"g.42992714C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"155G>A"	""	"Germline"	""	""	"0"	""	""	"g.44915346C>T"	""	"benign"	""
"0001017517"	"0"	"10"	"17"	"42989063"	"42989063"	"subst"	"0.0450192"	"00006"	"GFAP_000033"	"g.42989063C>T"	""	"{PMID:Brenner 2001:11138011}"	""	"897G>A"	""	"Germline"	""	""	"0"	""	""	"g.44911695C>T"	""	"benign"	""
"0001017522"	"0"	"90"	"17"	"42992668"	"42992668"	"subst"	"0"	"00006"	"GFAP_000128"	"g.42992668T>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915300T>G"	""	"pathogenic (dominant)"	""
"0001017523"	"0"	"90"	"17"	"42992637"	"42992637"	"subst"	"0"	"00006"	"GFAP_000127"	"g.42992637A>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44915269A>C"	""	"pathogenic (dominant)"	""
"0001017524"	"0"	"90"	"17"	"42992629"	"42992629"	"subst"	"0"	"00006"	"GFAP_000125"	"g.42992629G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44915261G>A"	""	"pathogenic (dominant)"	""
"0001017525"	"0"	"90"	"17"	"42992629"	"42992629"	"subst"	"0"	"00006"	"GFAP_000126"	"g.42992629G>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44915261G>C"	""	"pathogenic (dominant)"	""
"0001017526"	"0"	"90"	"17"	"42992625"	"42992625"	"subst"	"0"	"00006"	"GFAP_000123"	"g.42992625T>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44915257T>C"	""	"pathogenic (dominant)"	""
"0001017527"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"00006"	"GFAP_000081"	"g.42992620G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915252G>A"	""	"pathogenic (dominant)"	""
"0001017528"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"00006"	"GFAP_000081"	"g.42992620G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915252G>A"	""	"pathogenic (dominant)"	""
"0001017529"	"0"	"90"	"17"	"42992620"	"42992620"	"subst"	"0"	"00006"	"GFAP_000081"	"g.42992620G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915252G>A"	""	"pathogenic (dominant)"	""
"0001017530"	"0"	"90"	"17"	"42992593"	"42992593"	"subst"	"0"	"00006"	"GFAP_000045"	"g.42992593G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915225G>A"	""	"pathogenic (dominant)"	""
"0001017531"	"0"	"90"	"17"	"42992565"	"42992565"	"subst"	"0"	"00006"	"GFAP_000121"	"g.42992565A>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44915197A>G"	""	"pathogenic (dominant)"	""
"0001017532"	"0"	"90"	"17"	"42990798"	"42990798"	"subst"	"0"	"00006"	"GFAP_000119"	"g.42990798C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913430C>T"	""	"pathogenic (dominant)"	""
"0001017533"	"0"	"90"	"17"	"42990798"	"42990798"	"subst"	"0"	"00006"	"GFAP_000120"	"g.42990798C>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913430C>G"	""	"pathogenic (dominant)"	""
"0001017534"	"0"	"90"	"17"	"42990789"	"42990789"	"subst"	"0"	"00006"	"GFAP_000118"	"g.42990789C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913421C>T"	""	"pathogenic (dominant)"	""
"0001017535"	"0"	"90"	"17"	"42990713"	"42990713"	"subst"	"0"	"00006"	"GFAP_000117"	"g.42990713A>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913345A>G"	""	"pathogenic (dominant)"	""
"0001017536"	"0"	"90"	"17"	"42990713"	"42990713"	"subst"	"0"	"00006"	"GFAP_000117"	"g.42990713A>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913345A>G"	""	"pathogenic (dominant)"	""
"0001017537"	"0"	"90"	"17"	"42990713"	"42990713"	"subst"	"0"	"00006"	"GFAP_000117"	"g.42990713A>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913345A>G"	""	"pathogenic (dominant)"	""
"0001017538"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017539"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017540"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017541"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017542"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017543"	"0"	"90"	"17"	"42990702"	"42990702"	"subst"	"0"	"00006"	"GFAP_000116"	"g.42990702G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913334G>A"	""	"pathogenic (dominant)"	""
"0001017544"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017545"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017546"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017547"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017548"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000114"	"g.42990701C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913333C>T"	""	"pathogenic (dominant)"	""
"0001017549"	"0"	"90"	"17"	"42990701"	"42990701"	"subst"	"0"	"00006"	"GFAP_000115"	"g.42990701C>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44913333C>G"	""	"pathogenic (dominant)"	""
"0001017550"	"0"	"90"	"17"	"42990686"	"42990686"	"subst"	"0"	"00006"	"GFAP_000113"	"g.42990686G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913318G>A"	""	"pathogenic (dominant)"	""
"0001017551"	"0"	"90"	"17"	"42990659"	"42990659"	"subst"	"0"	"00006"	"GFAP_000112"	"g.42990659G>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44913291G>C"	""	"pathogenic (dominant)"	""
"0001017552"	"0"	"90"	"17"	"42989111"	"42989111"	"subst"	"0"	"00006"	"GFAP_000110"	"g.42989111T>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911743T>C"	""	"pathogenic (dominant)"	""
"0001017553"	"0"	"90"	"17"	"42988683"	"42988684"	"ins"	"0"	"00006"	"GFAP_000109"	"g.42988683_42988684ins[N[4];TG]"	""	"{PMID:Li 2005:15732097}"	""	"349HLins"	""	"De novo"	""	""	"0"	""	""	"g.44911315_44911316ins[N[4];TG]"	""	"pathogenic (dominant)"	""
"0001017554"	"0"	"90"	"17"	"42988676"	"42988676"	"subst"	"0"	"00006"	"GFAP_000100"	"g.42988676A>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911308A>G"	""	"pathogenic (dominant)"	""
"0001017555"	"0"	"90"	"17"	"42988656"	"42988656"	"subst"	"0"	"00006"	"GFAP_000108"	"g.42988656G>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911288G>C"	""	"pathogenic (dominant)"	""
"0001017556"	"0"	"90"	"17"	"42988641"	"42988641"	"subst"	"0"	"00006"	"GFAP_000107"	"g.42988641C>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911273C>G"	""	"pathogenic (dominant)"	""
"0001017557"	"0"	"90"	"17"	"42988635"	"42988635"	"subst"	"0"	"00006"	"GFAP_000106"	"g.42988635A>G"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911267A>G"	""	"pathogenic (dominant)"	""
"0001017558"	"0"	"90"	"17"	"42988614"	"42988614"	"subst"	"0"	"00006"	"GFAP_000104"	"g.42988614C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911246C>T"	""	"pathogenic (dominant)"	""
"0001017559"	"0"	"90"	"17"	"42988614"	"42988614"	"subst"	"0"	"00006"	"GFAP_000104"	"g.42988614C>T"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44911246C>T"	""	"pathogenic (dominant)"	""
"0001017560"	"0"	"90"	"17"	"42988614"	"42988614"	"subst"	"0"	"00006"	"GFAP_000105"	"g.42988614C>G"	""	"{PMID:Li 2005:15732097}"	""	"1117G>G"	""	"De novo"	""	""	"0"	""	""	"g.44911246C>G"	""	"pathogenic (dominant)"	""
"0001017561"	"0"	"90"	"17"	"42988610"	"42988610"	"subst"	"0"	"00006"	"GFAP_000103"	"g.42988610T>C"	""	"{PMID:Li 2005:15732097}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44911242T>C"	""	"pathogenic (dominant)"	""
"0001017562"	"0"	"90"	"17"	"42985443"	"42985443"	"subst"	"0"	"00006"	"GFAP_000073"	"g.42985443G>A"	""	"{PMID:Li 2005:15732097}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44908075G>A"	""	"pathogenic (dominant)"	""
"0001017563"	"11"	"30"	"17"	"42992512"	"42992512"	"subst"	"3.65649E-5"	"00006"	"GFAP_000093"	"g.42992512C>T"	""	"{PMID:Li 2005:15732097}"	""	"343G>T"	""	"Germline"	""	""	"0"	""	""	"g.44915144C>T"	""	"likely benign"	""
"0001017564"	"1"	"30"	"17"	"42992715"	"42992715"	"subst"	"0.00498603"	"00006"	"GFAP_000021"	"g.42992715G>A"	"1/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44915347G>A"	""	"likely benign"	""
"0001017565"	"1"	"10"	"17"	"42992714"	"42992714"	"subst"	"0.038915"	"00006"	"GFAP_000047"	"g.42992714C>T"	"2/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44915346C>T"	""	"likely benign"	""
"0001017566"	"1"	"30"	"17"	"42992714"	"42992714"	"subst"	"0.038915"	"00006"	"GFAP_000047"	"g.42992714C>T"	"2/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44915346C>T"	""	"likely benign"	""
"0001017567"	"1"	"30"	"17"	"42992512"	"42992512"	"subst"	"3.65649E-5"	"00006"	"GFAP_000093"	"g.42992512C>T"	"1/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44915144C>T"	""	"likely benign"	""
"0001017568"	"1"	"30"	"17"	"42991449"	"42991449"	"subst"	"0.0109529"	"00006"	"GFAP_000014"	"g.42991449C>T"	"1/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	"variant also found in 5 controls"	"Germline"	"no"	""	"0"	""	""	".44914081C>T"	""	"likely benign"	""
"0001017569"	"1"	"30"	"17"	"42990750"	"42990750"	"subst"	"0.000345265"	"00006"	"GFAP_000052"	"g.42990750C>G"	"1/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44913382C>G"	""	"likely benign"	""
"0001017570"	"1"	"10"	"17"	"42990810"	"42990810"	"subst"	"0.122624"	"00006"	"GFAP_000094"	"g.42990810G>A"	"6/76 chromosomes"	"{PMID:Li 2005:15732097}"	""	"IVS3-12C>T"	""	"Germline"	"no"	""	"0"	""	""	"g.44913442G>A"	""	"benign"	""
"0001017571"	"1"	"10"	"17"	"42989088"	"42989088"	"subst"	"0.109494"	"00006"	"GFAP_000023"	"g.42989088C>T"	"6/46 chromosomes"	"{PMID:Li 2005:15732097}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44911720C>T"	""	"benign"	""
"0001017572"	"1"	"10"	"17"	"42988924"	"42988924"	"subst"	"0"	"00006"	"GFAP_000095"	"g.42988924T>G"	"4/28 chromosomes"	"{PMID:Li 2005:15732097}"	""	"IVS5-100A>C"	""	"Germline"	"no"	""	"0"	""	""	"g.44911556T>G"	""	"benign"	""
"0001017573"	"1"	"10"	"17"	"42988092"	"42988092"	"subst"	"0"	"00006"	"GFAP_000096"	"g.42988092G>C"	"1/8 chromosomes"	"{PMID:Li 2005:15732097}"	""	"IVS6-66C>G"	""	"Germline"	"no"	""	"0"	""	""	"g.44910724G>C"	""	"benign"	""
"0001017574"	"1"	"10"	"17"	"42984842"	"42984842"	"subst"	"0"	"00006"	"GFAP_000097"	"g.42984842G>A"	"7/36 chromosomes"	"{PMID:Li 2005:15732097}"	""	"IVS8-86C>T"	""	"Germline"	"no"	""	"0"	""	""	"g.44907474G>A"	""	"benign"	""
"0001017629"	"0"	"70"	"17"	"42988645"	"42988645"	"subst"	"0"	"00006"	"GFAP_000098"	"g.42988645C>G"	""	"{PMID:Sawaishi 2002:12034796}"	""	"1100G>C"	""	"De novo"	""	""	"0"	""	""	"g.44911277C>G"	""	"likely pathogenic (dominant)"	""
"0001017630"	"0"	"70"	"17"	"42989119"	"42989119"	"subst"	"0"	"00006"	"GFAP_000099"	"g.42989119C>A"	""	"{PMID:Namekawa 2002:12447932}"	""	"841G>T"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44911751C>A"	""	"likely pathogenic (dominant)"	""
"0001017631"	"0"	"70"	"17"	"42989119"	"42989119"	"subst"	"0"	"00006"	"GFAP_000099"	"g.42989119C>A"	""	"{PMID:Namekawa 2002:12447932}"	""	"841G>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.44911751C>A"	""	"likely pathogenic (dominant)"	""
"0001017632"	"0"	"70"	"17"	"42988676"	"42988676"	"subst"	"0"	"00006"	"GFAP_000100"	"g.42988676A>G"	""	"{PMID:Bassuk 2003:14557587}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44911308A>G"	""	"likely pathogenic (dominant)"	""
"0001017633"	"1"	"90"	"17"	"42992621"	"42992621"	"subst"	"0"	"00006"	"GFAP_000101"	"g.42992621G>T"	""	"{PMID:Stumpf 2003:12975300}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44915253G>T"	""	"pathogenic (dominant)"	""
"0001026951"	"0"	"50"	"17"	"42978374"	"42978374"	"subst"	"4.20911E-6"	"01804"	"EFTUD2_000156"	"g.42978374G>A"	""	""	""	"CCDC103(NM_001258395.1):c.8G>A (p.(Arg3Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026952"	"0"	"50"	"17"	"42979916"	"42979916"	"subst"	"0"	"01804"	"EFTUD2_000157"	"g.42979916C>G"	""	""	""	"CCDC103(NM_001258395.1):c.460C>G (p.(His154Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026953"	"0"	"50"	"17"	"42991422"	"42991422"	"subst"	"0"	"01804"	"GFAP_000129"	"g.42991422C>T"	""	""	""	"GFAP(NM_002055.4):c.496G>A (p.(Glu166Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041917"	"0"	"30"	"17"	"42987516"	"42987516"	"subst"	"0.000577466"	"01804"	"GFAP_000130"	"g.42987516C>T"	""	""	""	"GFAP(NM_001131019.2):c.1284G>A (p.(Pro428=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041918"	"0"	"30"	"17"	"42990750"	"42990750"	"subst"	"0.000345265"	"01804"	"GFAP_000052"	"g.42990750C>G"	""	""	""	"GFAP(NM_001363846.1):c.667G>C (p.E223Q), GFAP(NM_002055.4):c.667G>C (p.E223Q), GFAP(NM_002055.5):c.667G>C (p.(Glu223Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041919"	"0"	"30"	"17"	"42990807"	"42990807"	"subst"	"0.0110349"	"01804"	"GFAP_000131"	"g.42990807G>C"	""	""	""	"GFAP(NM_001131019.2):c.619-9C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046644"	"0"	"50"	"17"	"42988057"	"42988057"	"subst"	"0"	"01804"	"GFAP_000132"	"g.42988057G>T"	""	""	""	"GFAP(NM_001131019.2):c.1128-31C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GFAP
## Count = 227
"{{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}}"
"0000019225"	"00008458"	"55"	"-154451"	"0"	"193993"	"0"	"c.-154451_*192694del"	"r.0?"	"p.0?"	""
"0000253539"	"00008458"	"10"	"96"	"0"	"96"	"0"	"c.96T>C"	"r.(?)"	"p.(Gly32=)"	""
"0000266521"	"00008458"	"10"	"5825"	"0"	"5825"	"0"	"c.*4526C>T"	"r.(=)"	"p.(=)"	""
"0000266522"	"00008458"	"10"	"6344"	"0"	"6344"	"0"	"c.*5045G>T"	"r.(=)"	"p.(=)"	""
"0000281021"	"00008458"	"10"	"1171"	"459"	"1171"	"459"	"c.1171+459A>G"	"r.(=)"	"p.(=)"	""
"0000281022"	"00008458"	"30"	"140"	"0"	"140"	"0"	"c.140C>T"	"r.(?)"	"p.(Pro47Leu)"	""
"0000281023"	"00008458"	"30"	"329"	"0"	"329"	"0"	"c.329C>G"	"r.(?)"	"p.(Thr110Ser)"	""
"0000284626"	"00008458"	"30"	"1247"	"0"	"1247"	"0"	"c.1247G>A"	"r.(?)"	"p.(Arg416Gln)"	""
"0000288289"	"00008458"	"30"	"1171"	"37"	"1171"	"37"	"c.1171+37G>A"	"r.(=)"	"p.(=)"	""
"0000288290"	"00008458"	"30"	"243"	"0"	"243"	"0"	"c.243C>T"	"r.(?)"	"p.(Ala81=)"	""
"0000288292"	"00008458"	"50"	"893"	"0"	"893"	"0"	"c.893C>T"	"r.(?)"	"p.(Ser298Phe)"	""
"0000325447"	"00008458"	"50"	"7613"	"0"	"7613"	"0"	"c.*6314A>G"	"r.(=)"	"p.(=)"	""
"0000325448"	"00008458"	"30"	"5848"	"0"	"5848"	"0"	"c.*4549T>C"	"r.(=)"	"p.(=)"	""
"0000325449"	"00008458"	"30"	"1171"	"471"	"1171"	"471"	"c.1171+471C>T"	"r.(=)"	"p.(=)"	""
"0000325450"	"00008458"	"30"	"1171"	"421"	"1171"	"421"	"c.1171+421G>A"	"r.(=)"	"p.(=)"	""
"0000325451"	"00008458"	"50"	"1171"	"388"	"1171"	"388"	"c.1171+388A>C"	"r.(=)"	"p.(=)"	""
"0000325452"	"00008458"	"50"	"1171"	"139"	"1171"	"139"	"c.1171+139G>A"	"r.(=)"	"p.(=)"	""
"0000325454"	"00008458"	"30"	"957"	"0"	"957"	"0"	"c.957G>A"	"r.(?)"	"p.(Arg319=)"	""
"0000325455"	"00008458"	"30"	"738"	"0"	"738"	"0"	"c.738G>A"	"r.(?)"	"p.(Ala246=)"	""
"0000325456"	"00008458"	"30"	"720"	"0"	"720"	"0"	"c.720G>T"	"r.(?)"	"p.(Thr240=)"	""
"0000325457"	"00008458"	"50"	"548"	"0"	"548"	"0"	"c.548G>A"	"r.(?)"	"p.(Arg183His)"	""
"0000325458"	"00008458"	"50"	"523"	"-18"	"523"	"-18"	"c.523-18C>T"	"r.(=)"	"p.(=)"	""
"0000325459"	"00008458"	"30"	"469"	"0"	"469"	"0"	"c.469G>A"	"r.(?)"	"p.(Asp157Asn)"	""
"0000325460"	"00008458"	"30"	"462"	"-8"	"462"	"-8"	"c.462-8dup"	"r.(=)"	"p.(=)"	""
"0000325461"	"00008458"	"50"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Ala132Thr)"	""
"0000325462"	"00008458"	"50"	"370"	"0"	"370"	"0"	"c.370C>A"	"r.(?)"	"p.(Arg124=)"	""
"0000340067"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	""
"0000340068"	"00008458"	"10"	"738"	"0"	"738"	"0"	"c.738G>A"	"r.(?)"	"p.(Ala246=)"	""
"0000343939"	"00008458"	"10"	"469"	"0"	"469"	"0"	"c.469G>A"	"r.(?)"	"p.(Asp157Asn)"	""
"0000464330"	"00008458"	"50"	"1072"	"0"	"1072"	"0"	"c.1072G>A"	"r.(?)"	"p.(Ala358Thr)"	"06"
"0000561955"	"00008458"	"50"	"7578"	"0"	"7578"	"0"	"c.*6279C>T"	"r.(=)"	"p.(=)"	""
"0000561956"	"00008458"	"50"	"6097"	"0"	"6097"	"0"	"c.*4798T>G"	"r.(=)"	"p.(=)"	""
"0000561957"	"00008458"	"90"	"6097"	"0"	"6097"	"0"	"c.*4798T>G"	"r.(=)"	"p.(=)"	""
"0000561958"	"00008458"	"90"	"6097"	"0"	"6097"	"0"	"c.*4798T>G"	"r.(=)"	"p.(=)"	""
"0000561959"	"00008458"	"50"	"1295"	"0"	"1295"	"0"	"c.1295T>C"	"r.(?)"	"p.(Met432Thr)"	""
"0000561960"	"00008458"	"50"	"1247"	"0"	"1247"	"0"	"c.1247G>A"	"r.(?)"	"p.(Arg416Gln)"	""
"0000561961"	"00008458"	"30"	"1221"	"0"	"1221"	"0"	"c.1221C>T"	"r.(?)"	"p.(Asn407=)"	""
"0000561963"	"00008458"	"30"	"1171"	"421"	"1171"	"421"	"c.1171+421G>A"	"r.(=)"	"p.(=)"	""
"0000561964"	"00008458"	"50"	"1171"	"416"	"1171"	"420"	"c.1171+416_1171+420del"	"r.(=)"	"p.(=)"	""
"0000561965"	"00008458"	"30"	"1031"	"0"	"1031"	"0"	"c.1031G>T"	"r.(?)"	"p.(Arg344Leu)"	""
"0000561966"	"00008458"	"30"	"947"	"0"	"947"	"0"	"c.947G>A"	"r.(?)"	"p.(Arg316Gln)"	""
"0000561967"	"00008458"	"50"	"920"	"0"	"920"	"0"	"c.920A>C"	"r.(?)"	"p.(Glu307Ala)"	""
"0000561968"	"00008458"	"50"	"891"	"0"	"891"	"0"	"c.891G>A"	"r.(?)"	"p.(Glu297=)"	""
"0000561969"	"00008458"	"30"	"883"	"0"	"883"	"0"	"c.883G>A"	"r.(?)"	"p.(Asp295Asn)"	""
"0000561970"	"00008458"	"50"	"676"	"0"	"676"	"0"	"c.676G>A"	"r.(?)"	"p.(Val226Met)"	""
"0000561971"	"00008458"	"30"	"675"	"0"	"675"	"0"	"c.675C>T"	"r.(?)"	"p.(Asp225=)"	""
"0000561972"	"00008458"	"50"	"649"	"0"	"649"	"0"	"c.649C>T"	"r.(?)"	"p.(Arg217Ter)"	""
"0000561973"	"00008458"	"30"	"522"	"19"	"522"	"19"	"c.522+19A>T"	"r.(=)"	"p.(=)"	""
"0000561974"	"00008458"	"50"	"522"	"14"	"522"	"14"	"c.522+14A>T"	"r.(=)"	"p.(=)"	""
"0000561975"	"00008458"	"50"	"522"	"8"	"522"	"8"	"c.522+8A>T"	"r.(=)"	"p.(=)"	""
"0000561976"	"00008458"	"50"	"522"	"4"	"522"	"4"	"c.522+4A>T"	"r.spl?"	"p.?"	""
"0000561977"	"00008458"	"50"	"485"	"0"	"485"	"0"	"c.485G>A"	"r.(?)"	"p.(Arg162Lys)"	""
"0000561978"	"00008458"	"10"	"462"	"-8"	"462"	"-8"	"c.462-8dup"	"r.(=)"	"p.(=)"	""
"0000561979"	"00008458"	"30"	"381"	"0"	"381"	"0"	"c.381C>T"	"r.(?)"	"p.(Leu127=)"	""
"0000561981"	"00008458"	"50"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105Trp)"	""
"0000561982"	"00008458"	"50"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105Trp)"	""
"0000561983"	"00008458"	"30"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105Trp)"	""
"0000561985"	"00008458"	"50"	"259"	"0"	"259"	"0"	"c.259G>A"	"r.(?)"	"p.(Val87Ile)"	""
"0000561986"	"00008458"	"30"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.(Pro47=)"	""
"0000561987"	"00008458"	"30"	"140"	"0"	"140"	"0"	"c.140C>T"	"r.(?)"	"p.(Pro47Leu)"	""
"0000561988"	"00008458"	"50"	"126"	"0"	"126"	"0"	"c.126G>A"	"r.(?)"	"p.(Met42Ile)"	""
"0000561989"	"00008458"	"30"	"96"	"0"	"96"	"0"	"c.96T>C"	"r.(?)"	"p.(Gly32=)"	""
"0000561990"	"00008458"	"50"	"43"	"0"	"43"	"0"	"c.43G>A"	"r.(?)"	"p.(Val15Ile)"	""
"0000561991"	"00008458"	"30"	"34"	"0"	"34"	"0"	"c.34C>T"	"r.(?)"	"p.(Arg12Cys)"	""
"0000616630"	"00008458"	"50"	"1171"	"474"	"1171"	"474"	"c.1171+474G>A"	"r.(=)"	"p.(=)"	""
"0000616631"	"00008458"	"50"	"667"	"0"	"667"	"0"	"c.667G>C"	"r.(?)"	"p.(Glu223Gln)"	""
"0000616632"	"00008458"	"30"	"329"	"0"	"329"	"0"	"c.329C>G"	"r.(?)"	"p.(Thr110Ser)"	""
"0000616633"	"00008458"	"30"	"287"	"0"	"287"	"0"	"c.287C>T"	"r.(?)"	"p.(Ala96Val)"	""
"0000616634"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>T"	"r.(?)"	"p.(Arg79Leu)"	""
"0000623696"	"00008458"	"50"	"1222"	"0"	"1222"	"0"	"c.1222A>G"	"r.(?)"	"p.(Ile408Val)"	""
"0000629295"	"00008458"	"90"	"1100"	"0"	"1100"	"0"	"c.1100G>C"	"r.(?)"	"p.(Arg367Thr)"	""
"0000649615"	"00008458"	"30"	"1929"	"0"	"1929"	"0"	"c.*630G>A"	"r.(=)"	"p.(=)"	""
"0000649616"	"00008458"	"10"	"1171"	"471"	"1171"	"471"	"c.1171+471C>T"	"r.(=)"	"p.(=)"	""
"0000649617"	"00008458"	"30"	"469"	"0"	"469"	"0"	"c.469G>A"	"r.(?)"	"p.(Asp157Asn)"	""
"0000658153"	"00008458"	"50"	"8785"	"0"	"8785"	"0"	"c.*7486A>G"	"r.(=)"	"p.(=)"	""
"0000658154"	"00008458"	"50"	"947"	"0"	"947"	"0"	"c.947G>A"	"r.(?)"	"p.(Arg316Gln)"	""
"0000669402"	"00008458"	"10"	"1171"	"471"	"1171"	"471"	"c.1171+471C>T"	"r.(=)"	"p.(=)"	""
"0000680902"	"00008458"	"30"	"3732"	"0"	"3732"	"0"	"c.*2433T>G"	"r.(=)"	"p.(=)"	""
"0000726455"	"00008458"	"50"	"1171"	"474"	"1171"	"474"	"c.1171+474G>A"	"r.(=)"	"p.(=)"	""
"0000726456"	"00008458"	"50"	"263"	"0"	"263"	"0"	"c.263G>A"	"r.(?)"	"p.(Arg88His)"	""
"0000726457"	"00008458"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Arg88Cys)"	""
"0000786871"	"00008458"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Arg88Cys)"	"1"
"0000787287"	"00008458"	"50"	"229"	"0"	"229"	"0"	"c.229A>G"	"r.(?)"	"p.(Asn77Asp)"	"1"
"0000787288"	"00008458"	"50"	"362"	"0"	"362"	"0"	"c.362G>A"	"r.(?)"	"p.(Arg121Gln)"	"1"
"0000787289"	"00008458"	"50"	"901"	"0"	"901"	"0"	"c.901G>C"	"r.(?)"	"p.(Gly301Arg)"	"5"
"0000808044"	"00008458"	"50"	"1256"	"0"	"1256"	"0"	"c.1256A>G"	"r.(?)"	"p.(Glu419Gly)"	""
"0000808045"	"00008458"	"30"	"1171"	"20"	"1171"	"20"	"c.1171+20G>C"	"r.(=)"	"p.(=)"	""
"0000854954"	"00008458"	"50"	"1088"	"0"	"1088"	"0"	"c.1088T>C"	"r.(?)"	"p.(Ile363Thr)"	""
"0000854955"	"00008458"	"50"	"388"	"0"	"388"	"0"	"c.388C>G"	"r.(?)"	"p.(Leu130Val)"	""
"0000854956"	"00008458"	"30"	"252"	"0"	"252"	"0"	"c.252C>T"	"r.(?)"	"p.(Ile84=)"	""
"0000865317"	"00008458"	"50"	"1171"	"420"	"1171"	"420"	"c.1171+420C>T"	"r.(=)"	"p.(=)"	""
"0000865318"	"00008458"	"30"	"1171"	"21"	"1171"	"21"	"c.1171+21T>C"	"r.(=)"	"p.(=)"	""
"0000865319"	"00008458"	"30"	"947"	"0"	"947"	"0"	"c.947G>A"	"r.(?)"	"p.(Arg316Gln)"	""
"0000865320"	"00008458"	"30"	"676"	"0"	"676"	"0"	"c.676G>A"	"r.(?)"	"p.(Val226Met)"	""
"0000865321"	"00008458"	"30"	"523"	"-11"	"523"	"-11"	"c.523-11T>C"	"r.(=)"	"p.(=)"	""
"0000865322"	"00008458"	"50"	"521"	"0"	"521"	"0"	"c.521A>T"	"r.(?)"	"p.(Gln174Leu)"	""
"0000865323"	"00008458"	"30"	"461"	"9"	"461"	"9"	"c.461+9G>A"	"r.(=)"	"p.(=)"	""
"0000881290"	"00008458"	"90"	"242"	"0"	"242"	"0"	"c.242C>A"	"r.(?)"	"p.(Ala81Asp)"	""
"0000893966"	"00008458"	"90"	"1246"	"0"	"1246"	"0"	"c.1246C>T"	"r.(?)"	"p.(Arg416Trp)"	""
"0000893967"	"00008458"	"50"	"1049"	"0"	"1049"	"0"	"c.1049A>G"	"r.(?)"	"p.(Gln350Arg)"	""
"0000893968"	"00008458"	"50"	"857"	"0"	"857"	"0"	"c.857G>A"	"r.(?)"	"p.(Arg286Gln)"	""
"0000893969"	"00008458"	"50"	"692"	"0"	"692"	"0"	"c.692T>A"	"r.(?)"	"p.(Leu231His)"	""
"0000893970"	"00008458"	"30"	"420"	"0"	"420"	"0"	"c.420G>A"	"r.(?)"	"p.(Glu140=)"	""
"0000893971"	"00008458"	"50"	"406"	"0"	"406"	"0"	"c.406C>T"	"r.(?)"	"p.(Arg136Trp)"	""
"0000893972"	"00008458"	"30"	"159"	"0"	"159"	"0"	"c.159C>T"	"r.(?)"	"p.(Ser53=)"	""
"0000893973"	"00008458"	"30"	"34"	"0"	"34"	"0"	"c.34C>T"	"r.(?)"	"p.(Arg12Cys)"	""
"0000914867"	"00008458"	"30"	"852"	"0"	"852"	"0"	"c.852C>T"	"r.(?)"	"p.(Asp284=)"	""
"0000926518"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	""
"0000926519"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	""
"0000968977"	"00008458"	"50"	"406"	"0"	"406"	"0"	"c.406C>T"	"r.(?)"	"p.(Arg136Trp)"	""
"0000968978"	"00008458"	"70"	"252"	"0"	"252"	"0"	"c.252C>G"	"r.(?)"	"p.(Ile84Met)"	""
"0000982551"	"00008458"	"50"	"7617"	"0"	"7617"	"0"	"c.*6318C>G"	"r.(=)"	"p.(=)"	""
"0000982552"	"00008458"	"50"	"6229"	"0"	"6229"	"0"	"c.*4930C>T"	"r.(=)"	"p.(=)"	""
"0000982553"	"00008458"	"50"	"1148"	"0"	"1148"	"0"	"c.1148C>T"	"r.(?)"	"p.(Thr383Ile)"	""
"0000982554"	"00008458"	"30"	"388"	"0"	"388"	"0"	"c.388C>G"	"r.(?)"	"p.(Leu130Val)"	""
"0001003325"	"00008458"	"50"	"1256"	"0"	"1256"	"0"	"c.1256A>G"	"r.(?)"	"p.(Glu419Gly)"	""
"0001003326"	"00008458"	"30"	"1144"	"0"	"1144"	"0"	"c.1144C>G"	"r.(?)"	"p.(Gln382Glu)"	""
"0001003327"	"00008458"	"50"	"1141"	"0"	"1141"	"0"	"c.1141G>A"	"r.(?)"	"p.(Val381Met)"	""
"0001003328"	"00008458"	"30"	"1016"	"0"	"1016"	"0"	"c.1016A>G"	"r.(?)"	"p.(Lys339Arg)"	""
"0001003329"	"00008458"	"30"	"953"	"0"	"953"	"0"	"c.953T>C"	"r.(?)"	"p.(Val318Ala)"	""
"0001003330"	"00008458"	"30"	"220"	"0"	"220"	"0"	"c.220A>G"	"r.(?)"	"p.(Met74Val)"	""
"0001003331"	"00008458"	"50"	"157"	"0"	"157"	"0"	"c.157T>C"	"r.(?)"	"p.(Ser53Pro)"	""
"0001003332"	"00008458"	"50"	"68"	"0"	"68"	"0"	"c.68G>C"	"r.(?)"	"p.(Gly23Ala)"	""
"0001011895"	"00008458"	"90"	"259"	"0"	"259"	"0"	"c.259G>C"	"r.(?)"	"p.(Val87Leu)"	""
"0001011905"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	""
"0001011974"	"00008458"	"90"	"1246"	"0"	"1246"	"0"	"c.1246C>T"	"r.(?)"	"p.(Arg416Trp)"	""
"0001017383"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	"1"
"0001017482"	"00008458"	"90"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Leu76Phe)"	"1"
"0001017483"	"00008458"	"90"	"229"	"0"	"229"	"0"	"c.229A>T"	"r.(?)"	"p.(Asn77Tyr)"	"1"
"0001017484"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	"1"
"0001017485"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	"1"
"0001017486"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	"1"
"0001017487"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	"1"
"0001017488"	"00008458"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Arg88Cys)"	"1"
"0001017489"	"00008458"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Arg88Cys)"	"1"
"0001017490"	"00008458"	"90"	"262"	"0"	"262"	"0"	"c.262C>A"	"r.(?)"	"p.(Arg88Ser)"	"1"
"0001017491"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017492"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017493"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017494"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017495"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017497"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	""
"0001017498"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	"1"
"0001017499"	"00008458"	"90"	"236"	"0"	"236"	"0"	"c.236G>A"	"r.(?)"	"p.(Arg79His)"	"1"
"0001017500"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017501"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017502"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017503"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017504"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017505"	"00008458"	"90"	"773"	"0"	"773"	"0"	"c.773G>C"	"r.(?)"	"p.(Arg258Pro)"	"4"
"0001017506"	"00008458"	"90"	"1246"	"0"	"1246"	"0"	"c.1246C>T"	"r.(?)"	"p.(Arg416Trp)"	"8"
"0001017507"	"00008458"	"90"	"1246"	"0"	"1246"	"0"	"c.1246C>T"	"r.(?)"	"p.(Arg416Trp)"	"8"
"0001017508"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	"5"
"0001017509"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	"5"
"0001017510"	"00008458"	"10"	"140"	"0"	"140"	"0"	"c.140C>T"	"r.(?)"	"p.(Pro47Leu)"	"1"
"0001017511"	"00008458"	"10"	""	"0"	""	"0"	"c.*21C>G"	"r.(?)"	"p.?"	"9"
"0001017512"	"00008458"	"10"	""	"0"	""	"0"	"c.*21C>G"	"r.(?)"	"p.?"	"9"
"0001017513"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	"5"
"0001017514"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	"5"
"0001017515"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	"5"
"0001017516"	"00008458"	"10"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.(Pro47=)"	"1"
"0001017517"	"00008458"	"10"	"883"	"0"	"883"	"0"	"c.883G>A"	"r.(?)"	"p.(Asp295Asn)"	""
"0001017522"	"00008458"	"90"	"187"	"0"	"187"	"0"	"c.187A>C"	"r.(?)"	"p.(Lys63Gln)"	"1"
"0001017523"	"00008458"	"90"	"218"	"0"	"218"	"0"	"c.218T>G"	"r.(?)"	"p.(Met73Arg)"	"1"
"0001017524"	"00008458"	"90"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Leu76Phe)"	"1"
"0001017525"	"00008458"	"90"	"226"	"0"	"226"	"0"	"c.226C>G"	"r.(?)"	"p.(Leu76Val)"	"1"
"0001017526"	"00008458"	"90"	"230"	"0"	"230"	"0"	"c.230A>G"	"r.(?)"	"p.(Asn77Ser)"	"1"
"0001017527"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	"1"
"0001017528"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	"1"
"0001017529"	"00008458"	"90"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Cys)"	"1"
"0001017530"	"00008458"	"90"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(Arg88Cys)"	"1"
"0001017531"	"00008458"	"90"	"290"	"0"	"290"	"0"	"c.290T>C"	"r.(?)"	"p.(Leu97Pro)"	"1"
"0001017532"	"00008458"	"90"	"619"	"0"	"619"	"0"	"c.619G>A"	"r.(?)"	"p.(Glu207Lys)"	"4"
"0001017533"	"00008458"	"90"	"619"	"0"	"619"	"0"	"c.619G>C"	"r.(?)"	"p.(Glu207Gln)"	"4"
"0001017534"	"00008458"	"90"	"628"	"0"	"628"	"0"	"c.628G>A"	"r.(?)"	"p.(Glu210Lys)"	"4"
"0001017535"	"00008458"	"90"	"704"	"0"	"704"	"0"	"c.704T>C"	"r.(?)"	"p.(Leu235Pro)"	"4"
"0001017536"	"00008458"	"90"	"704"	"0"	"704"	"0"	"c.704T>C"	"r.(?)"	"p.(Leu235Pro)"	"4"
"0001017537"	"00008458"	"90"	"704"	"0"	"704"	"0"	"c.704T>C"	"r.(?)"	"p.(Leu235Pro)"	"4"
"0001017538"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017539"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017540"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017541"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017542"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017543"	"00008458"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"4"
"0001017544"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017545"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017546"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017547"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017548"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Arg239His)"	"4"
"0001017549"	"00008458"	"90"	"716"	"0"	"716"	"0"	"c.716G>C"	"r.(?)"	"p.(Arg239Pro)"	"4"
"0001017550"	"00008458"	"90"	"731"	"0"	"731"	"0"	"c.731C>T"	"r.(?)"	"p.(Ala244Val)"	"4"
"0001017551"	"00008458"	"90"	"758"	"0"	"758"	"0"	"c.758C>G"	"r.(?)"	"p.(Ala253Gly)"	"4"
"0001017552"	"00008458"	"90"	"835"	"0"	"835"	"0"	"c.835A>G"	"r.(?)"	"p.(Lys279Glu)"	"5"
"0001017553"	"00008458"	"90"	"1047"	"0"	"1048"	"0"	"c.1047_1048ins[CA;N[4]]"	"r.(?)"	"p.(Tyr349_Gln350insHisLeu)"	""
"0001017554"	"00008458"	"90"	"1055"	"0"	"1055"	"0"	"c.1055T>C"	"r.(?)"	"p.(Leu352Pro)"	"6"
"0001017555"	"00008458"	"90"	"1075"	"0"	"1075"	"0"	"c.1075C>G"	"r.(?)"	"p.(Leu359Val)"	"6"
"0001017556"	"00008458"	"90"	"1090"	"0"	"1090"	"0"	"c.1090G>C"	"r.(?)"	"p.(Ala364Pro)"	"6"
"0001017557"	"00008458"	"90"	"1096"	"0"	"1096"	"0"	"c.1096T>C"	"r.(?)"	"p.(Tyr366His)"	"6"
"0001017558"	"00008458"	"90"	"1117"	"0"	"1117"	"0"	"c.1117G>A"	"r.(?)"	"p.(Glu373Lys)"	"6"
"0001017559"	"00008458"	"90"	"1117"	"0"	"1117"	"0"	"c.1117G>A"	"r.(?)"	"p.(Glu373Lys)"	"6"
"0001017560"	"00008458"	"90"	"1117"	"0"	"1117"	"0"	"c.1117="	"r.(?)"	"p.(Glu373Gln)"	"6"
"0001017561"	"00008458"	"90"	"1121"	"0"	"1121"	"0"	"c.1121A>G"	"r.(?)"	"p.(Glu374Gly)"	"6"
"0001017562"	"00008458"	"90"	"1246"	"0"	"1246"	"0"	"c.1246C>T"	"r.(?)"	"p.(Arg416Trp)"	"8"
"0001017563"	"00008458"	"30"	"343"	"0"	"343"	"0"	"c.343G>A"	"r.(?)"	"p.(Val115Ile)"	"1"
"0001017564"	"00008458"	"30"	"140"	"0"	"140"	"0"	"c.140C>T"	"r.(?)"	"p.(Pro47Leu)"	""
"0001017565"	"00008458"	"10"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.(Pro47=)"	"1"
"0001017566"	"00008458"	"30"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.(Pro47=)"	"1"
"0001017567"	"00008458"	"30"	"343"	"0"	"343"	"0"	"c.343G>A"	"r.(?)"	"p.(Val115Ile)"	"1"
"0001017568"	"00008458"	"30"	"469"	"0"	"469"	"0"	"c.469G>A"	"r.(?)"	"p.(Asp157Asn)"	"2"
"0001017569"	"00008458"	"30"	"667"	"0"	"667"	"0"	"c.667G>C"	"r.(?)"	"p.(Glu223Gln)"	""
"0001017570"	"00008458"	"10"	"619"	"-12"	"619"	"-12"	"c.619-12C>T"	"r.(?)"	"p.(=)"	"3i"
"0001017571"	"00008458"	"10"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	"5"
"0001017572"	"00008458"	"10"	"907"	"-100"	"907"	"-100"	"c.907-100A>C"	"r.(?)"	"p.(=)"	"5i"
"0001017573"	"00008458"	"10"	"1128"	"-66"	"1128"	"-66"	"c.1128-66C>G"	"r.(?)"	"p.(=)"	"6i"
"0001017574"	"00008458"	"10"	"1258"	"-86"	"1258"	"-86"	"c.1258-86C>T"	"r.(?)"	"p.(=)"	"8i"
"0001017629"	"00008458"	"70"	"1086"	"0"	"1086"	"0"	"c.1086G>C"	"r.(?)"	"p.(Glu362Asp)"	""
"0001017630"	"00008458"	"70"	"827"	"0"	"827"	"0"	"c.827G>T"	"r.(?)"	"p.(Arg276Leu)"	""
"0001017631"	"00008458"	"70"	"827"	"0"	"827"	"0"	"c.827G>T"	"r.(?)"	"p.(Arg276Leu)"	""
"0001017632"	"00008458"	"70"	"1055"	"0"	"1055"	"0"	"c.1055T>C"	"r.(?)"	"p.(Leu352Pro)"	""
"0001017633"	"00008458"	"90"	"234"	"0"	"234"	"0"	"c.234C>A"	"r.(?)"	"p.(Asp78Glu)"	""
"0001026951"	"00008458"	"50"	"7640"	"0"	"7640"	"0"	"c.*6341C>T"	"r.(=)"	"p.(=)"	""
"0001026952"	"00008458"	"50"	"6098"	"0"	"6098"	"0"	"c.*4799G>C"	"r.(=)"	"p.(=)"	""
"0001026953"	"00008458"	"50"	"496"	"0"	"496"	"0"	"c.496G>A"	"r.(?)"	"p.(Glu166Lys)"	""
"0001041917"	"00008458"	"30"	"1171"	"467"	"1171"	"467"	"c.1171+467G>A"	"r.(=)"	"p.(=)"	""
"0001041918"	"00008458"	"30"	"667"	"0"	"667"	"0"	"c.667G>C"	"r.(?)"	"p.(Glu223Gln)"	""
"0001041919"	"00008458"	"30"	"619"	"-9"	"619"	"-9"	"c.619-9C>G"	"r.(=)"	"p.(=)"	""
"0001046644"	"00008458"	"50"	"1128"	"-31"	"1128"	"-31"	"c.1128-31C>A"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 109
"{{screeningid}}"	"{{variantid}}"
"0000001436"	"0000019225"
"0000227328"	"0000464330"
"0000275331"	"0000629295"
"0000292926"	"0000649615"
"0000292927"	"0000649616"
"0000292928"	"0000649617"
"0000305714"	"0000669402"
"0000375520"	"0000786871"
"0000375936"	"0000787287"
"0000375937"	"0000787288"
"0000375938"	"0000787289"
"0000420931"	"0000881290"
"0000457392"	"0001011895"
"0000457402"	"0001011905"
"0000457471"	"0001011974"
"0000459368"	"0001017383"
"0000459455"	"0001017482"
"0000459456"	"0001017483"
"0000459457"	"0001017484"
"0000459458"	"0001017485"
"0000459459"	"0001017486"
"0000459460"	"0001017487"
"0000459461"	"0001017488"
"0000459462"	"0001017489"
"0000459463"	"0001017490"
"0000459464"	"0001017491"
"0000459465"	"0001017492"
"0000459466"	"0001017493"
"0000459467"	"0001017494"
"0000459468"	"0001017495"
"0000459471"	"0001017497"
"0000459472"	"0001017498"
"0000459472"	"0001017508"
"0000459473"	"0001017499"
"0000459473"	"0001017509"
"0000459473"	"0001017517"
"0000459474"	"0001017500"
"0000459475"	"0001017501"
"0000459475"	"0001017510"
"0000459476"	"0001017502"
"0000459476"	"0001017511"
"0000459477"	"0001017503"
"0000459478"	"0001017504"
"0000459478"	"0001017512"
"0000459479"	"0001017505"
"0000459479"	"0001017513"
"0000459480"	"0001017506"
"0000459480"	"0001017514"
"0000459481"	"0001017507"
"0000459481"	"0001017515"
"0000459482"	"0001017516"
"0000459483"	"0001017522"
"0000459484"	"0001017523"
"0000459485"	"0001017524"
"0000459486"	"0001017525"
"0000459487"	"0001017526"
"0000459488"	"0001017527"
"0000459489"	"0001017528"
"0000459490"	"0001017529"
"0000459491"	"0001017530"
"0000459491"	"0001017570"
"0000459492"	"0001017531"
"0000459493"	"0001017532"
"0000459494"	"0001017533"
"0000459495"	"0001017534"
"0000459496"	"0001017535"
"0000459497"	"0001017536"
"0000459498"	"0001017537"
"0000459499"	"0001017538"
"0000459499"	"0001017571"
"0000459500"	"0001017539"
"0000459501"	"0001017540"
"0000459501"	"0001017565"
"0000459502"	"0001017541"
"0000459502"	"0001017564"
"0000459503"	"0001017542"
"0000459504"	"0001017543"
"0000459505"	"0001017544"
"0000459506"	"0001017545"
"0000459507"	"0001017546"
"0000459508"	"0001017547"
"0000459509"	"0001017548"
"0000459510"	"0001017549"
"0000459511"	"0001017550"
"0000459511"	"0001017566"
"0000459512"	"0001017551"
"0000459513"	"0001017552"
"0000459513"	"0001017574"
"0000459514"	"0001017553"
"0000459515"	"0001017554"
"0000459515"	"0001017573"
"0000459516"	"0001017555"
"0000459517"	"0001017556"
"0000459517"	"0001017568"
"0000459518"	"0001017557"
"0000459518"	"0001017569"
"0000459519"	"0001017558"
"0000459520"	"0001017559"
"0000459521"	"0001017560"
"0000459522"	"0001017561"
"0000459522"	"0001017572"
"0000459523"	"0001017562"
"0000459524"	"0001017563"
"0000459524"	"0001017567"
"0000459565"	"0001017629"
"0000459566"	"0001017630"
"0000459567"	"0001017631"
"0000459568"	"0001017632"
"0000459569"	"0001017633"