### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = STXBP1)
# 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}}"
"STXBP1"	"syntaxin binding protein 1"	"9"	"q34.1"	"unknown"	"NG_016623.1"	"UD_132084561584"	""	"https://www.LOVD.nl/STXBP1"	""	"1"	"11444"	"6812"	"602926"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/STXBP1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2010-04-29 00:00:00"	"00006"	"2018-08-17 11:40:28"	"00006"	"2025-11-13 14:39:26"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00023862"	"STXBP1"	"transcript variant 1"	"001"	"NM_003165.3"	""	"NP_003156.1"	""	""	""	"-197"	"3770"	"1812"	"130374486"	"130454995"	"00008"	"2013-11-25 16:14:46"	""	""
"00025520"	"STXBP1"	"transcript variant 2"	"002"	"NM_001032221.3"	""	"NP_001027392.1"	""	""	""	"-197"	"3644"	"1785"	"130374486"	"130454995"	"00006"	"2020-06-07 12:58:53"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00066"	"RTT"	"Rett syndrome (RTT)"	"XLD"	"312750"	""	""	""	"00008"	"2012-10-31 15:08:39"	"00006"	"2021-12-10 21:51:32"
"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"
"00264"	"DEE1"	"encephalopathy, developmental and epileptic, type 1"	"XLR"	"308350"	""	""	""	"00006"	"2013-11-01 17:47:51"	"00006"	"2022-12-30 12:35:14"
"00281"	"DEE4"	"encephalopathy, developmental and epileptic, type 4"	"AD;AR"	"612164"	""	""	""	"00008"	"2013-11-25 16:14:10"	"00006"	"2024-02-02 17:40:39"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"00841"	"EIEE"	"encephalopathy, epileptic, early infantile (EIEE)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-02-20 16:58:56"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05521"	"seizures"	"seizures"	""	""	""	""	""	"00006"	"2018-11-18 17:02:13"	""	""
"05533"	"MR;ID"	"mental retardation (MR, intellectual disability (ID))"	""	""	""	""	""	"00006"	"2018-12-18 09:22:07"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"STXBP1"	"00139"
"STXBP1"	"00281"


## Individuals ## Do not remove or alter this header ##
## Count = 115
"{{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}}"
"00037204"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037205"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037206"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037207"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037208"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037209"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037210"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037211"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037212"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037213"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00050387"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050413"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050536"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050574"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050600"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050690"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00081013"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00081026"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00116881"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_267:0/1:CONTROL"
"00132970"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00144673"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00177023"	""	""	""	"1"	""	"02552"	""	""	"M"	"no"	"Afghanistan"	""	"0"	""	""	""	"73805"
"00181099"	""	""	""	"1"	""	"02552"	""	""	"F"	"no"	"Switzerland"	""	"0"	""	""	""	"52236"
"00208545"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00209024"	""	""	""	"1"	""	"00006"	"{PMID:Lionel 2018:28771251}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"28771251-Pat41"
"00209034"	""	""	""	"1"	""	"00006"	"{PMID:Lionel 2018:28771251}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"28771251-Pat63"
"00227777"	""	""	""	"1"	""	"00000"	"{PMID:Moretti 2005:15781839}"	""	"F"	""	""	""	"0"	""	""	""	""
"00227778"	""	""	""	"1"	""	"00000"	"{PMID:Deprez 2010:20876469}"	""	""	""	""	""	"0"	""	""	"white"	""
"00227779"	""	""	""	"1"	""	"00000"	"{PMID:Tohyama 2008:18065176}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00227780"	""	""	""	"1"	""	"00000"	"{PMID:Mignot 2011:21762454}"	""	"F"	""	"(France)"	""	"0"	""	""	""	""
"00227781"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2008:18469812}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00227782"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2008:18469812}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00227783"	""	""	""	"1"	""	"00000"	"{PMID:Hamdan 2009:19557857}, {PMID:Hamdan 2011:21376300}"	""	"F"	""	"Canada"	""	"0"	""	""	"French"	""
"00227784"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2008:18469812}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00227785"	""	""	""	"1"	""	"00000"	"{PMID:Deprez 2010:20876469}"	""	""	""	""	""	"0"	""	""	"white"	""
"00227786"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2008:18469812}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00227787"	""	""	""	"1"	""	"00000"	"{PMID:Deprez 2010:20876469}"	""	""	""	""	""	"0"	""	""	"white"	""
"00227788"	""	""	""	"1"	""	"00000"	"{PMID:Hamdan 2009:19557857}, {PMID:Hamdan 2011:21376300}"	""	"F"	""	"Canada"	">27y"	"0"	""	""	"French"	""
"00227789"	""	""	""	"1"	""	"00000"	"{PMID:Deprez 2010:20876469}"	""	""	""	""	""	"0"	""	""	"white"	""
"00227790"	""	""	""	"1"	""	"00000"	"{PMID:Deprez 2010:20876469}"	""	""	""	""	""	"0"	""	""	"white"	""
"00227791"	""	""	""	"1"	""	"00000"	"{PMID:Deprez 2010:20876469}"	""	""	""	""	""	"0"	""	""	"white"	""
"00227792"	""	""	""	"1"	""	"00000"	""	"unaffected carrier father"	""	""	"Canada"	""	"0"	""	""	"French"	""
"00227793"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00227794"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00227795"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00227796"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00227797"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00227798"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00227799"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00227800"	""	""	""	"1"	""	"00000"	"{PMID 20887364:Saitsu 2010}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00227801"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:20887364}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00227802"	""	""	""	"1"	""	"00000"	"{PMID:Saitsu 2010:21062273}"	"father somatic mosaic for variant"	"F"	""	"Japan"	""	"0"	""	""	""	""
"00227803"	""	""	""	"1"	""	"00000"	"{PMID:Hamdan 2011:21364700}"	""	"M"	""	""	""	"0"	""	""	"French Canadian"	""
"00227804"	""	""	""	"1"	""	"00000"	"{PMID:Otsuka 2010:21204804}"	""	"M"	""	"(Japan)"	""	"0"	""	""	""	""
"00227805"	""	""	""	"1"	""	"00000"	"{PMID:Otsuka 2010:21204804}"	""	"F"	""	"(Japan)"	""	"0"	""	""	""	""
"00227806"	""	""	""	"1"	""	"00000"	"{PMID:Mignot 2011:21762454}"	""	"F"	""	"(France)"	""	"0"	""	""	""	""
"00227807"	""	""	""	"1"	""	"00000"	"{PMID:Mignot 2011:21762454}"	""	"F"	""	"(France)"	""	"0"	""	""	""	""
"00227808"	""	""	""	"1"	""	"00000"	"{PMID:Milh 2011:21770924}"	""	""	""	"(France)"	""	"0"	""	""	""	""
"00227809"	""	""	""	"1"	""	"00000"	"{PMID:Milh 2011:21770924}"	""	""	""	"(France)"	""	"0"	""	""	""	""
"00227810"	""	""	""	"1"	""	"00000"	"{PMID:Milh 2011:21770924}"	""	""	""	"(France)"	""	"0"	""	""	""	""
"00227811"	""	""	""	"1"	""	"00000"	"{PMID:Milh 2011:21770924}"	""	""	""	"(France)"	""	"0"	""	""	""	""
"00227812"	""	""	""	"1"	""	"00000"	"{PMID:Milh 2011:21770924}"	""	""	""	"(France)"	""	"0"	""	""	""	""
"00244436"	""	""	""	"1"	""	"01227"	""	""	""	""	"(Italy)"	""	"0"	""	""	""	""
"00248153"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00269490"	""	""	""	"1"	""	"03512"	"{PMID:Minardi 2020:32725632}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	""
"00287096"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00294739"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296535"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00303030"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat75"
"00303032"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat77"
"00303034"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat79"
"00303134"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"T22595"
"00303135"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"T1266"
"00303136"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"T23151"
"00303137"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"T23553"
"00303138"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"T23122"
"00303139"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"T22856"
"00303140"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"T23289"
"00306012"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat43"
"00306013"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2019:31077350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat44"
"00306014"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat45"
"00307818"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411254"
"00374514"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2673"
"00374515"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3287"
"00374516"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3458"
"00375654"	""	""	""	"1"	""	"00006"	"{PMID:Srivastava 2014:25131622}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat48"
"00375662"	""	""	""	"1"	""	"00006"	"{PMID:Srivastava 2014:25131622}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat71"
"00376335"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"180174"
"00377294"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00415877"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"203468"
"00419591"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"9103"
"00427803"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat235"
"00427804"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat243"
"00427805"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat115"
"00428019"	""	""	""	"1"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, 1 affected"	""	""	"Australia"	""	"0"	""	""	""	"A164"
"00434852"	""	""	""	"1"	""	"00006"	"{PMID:Gostain 2020:32960281}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"CMC19"
"00438413"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat132"
"00447943"	""	""	""	"1"	""	"00006"	"{PMID:Ostrander 2018:30109124}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat11"
"00449825"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00455818"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat58"
"00455842"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat82"
"00458258"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00464581"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"327391"
"00464606"	""	""	""	"1"	""	"01164"	""	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"197790"
"00467282"	""	""	""	"1"	""	"00006"	"{PMID:Soden 2014:25473036}"	"family, 1 affected"	""	""	"United States"	""	"0"	""	""	""	"CMH169"
"00467294"	""	""	""	"1"	""	"00006"	"{PMID:Soden 2014:25473036}"	"family, 1 affected"	""	""	"United States"	""	"0"	""	""	""	"CMH350"
"00468593"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040)"	""	""	"United States"	""	"0"	""	""	""	""
"00469433"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469435"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469436"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469437"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469438"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469439"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469440"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469441"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 111
"{{individualid}}"	"{{diseaseid}}"
"00037205"	"00198"
"00037206"	"00198"
"00037207"	"00198"
"00037208"	"00198"
"00037209"	"00198"
"00037211"	"00198"
"00050387"	"00198"
"00050413"	"00198"
"00050536"	"00198"
"00050574"	"00198"
"00050600"	"00198"
"00050690"	"00198"
"00081013"	"00281"
"00081026"	"00281"
"00116881"	"00000"
"00132970"	"00198"
"00144673"	"00198"
"00177023"	"00344"
"00181099"	"00344"
"00209024"	"04270"
"00209034"	"05533"
"00227777"	"00198"
"00227778"	"00264"
"00227779"	"00264"
"00227780"	"00264"
"00227781"	"00264"
"00227782"	"00264"
"00227783"	"00139"
"00227784"	"00264"
"00227785"	"00264"
"00227786"	"00264"
"00227787"	"00264"
"00227788"	"00139"
"00227789"	"00264"
"00227790"	"00264"
"00227791"	"00264"
"00227792"	"00198"
"00227793"	"00264"
"00227794"	"00264"
"00227795"	"00264"
"00227796"	"00264"
"00227797"	"00264"
"00227798"	"00264"
"00227799"	"00264"
"00227800"	"00264"
"00227801"	"00264"
"00227802"	"00264"
"00227803"	"00139"
"00227804"	"00264"
"00227805"	"00264"
"00227806"	"00198"
"00227807"	"00198"
"00227808"	"00264"
"00227809"	"00264"
"00227810"	"00264"
"00227811"	"00264"
"00227812"	"00264"
"00244436"	"00066"
"00248153"	"00198"
"00269490"	"00841"
"00287096"	"00198"
"00294739"	"00198"
"00296535"	"00198"
"00303030"	"05521"
"00303032"	"05521"
"00303034"	"05521"
"00303134"	"00344"
"00303135"	"00344"
"00303136"	"00344"
"00303137"	"00344"
"00303138"	"00344"
"00303139"	"00344"
"00303140"	"00344"
"00306012"	"04270"
"00306013"	"04270"
"00306014"	"04270"
"00307818"	"00139"
"00307818"	"00198"
"00374514"	"00198"
"00374515"	"00198"
"00374516"	"00198"
"00375654"	"00198"
"00375662"	"00198"
"00376335"	"00281"
"00377294"	"00198"
"00415877"	"00281"
"00419591"	"00198"
"00427803"	"04270"
"00427804"	"04270"
"00427805"	"04270"
"00428019"	"00198"
"00434852"	"00198"
"00438413"	"04270"
"00447943"	"00841"
"00449825"	"00139"
"00455818"	"00198"
"00455842"	"00198"
"00458258"	"05611"
"00464581"	"00281"
"00464606"	"00281"
"00467282"	"00198"
"00467294"	"00198"
"00468593"	"00198"
"00469433"	"00198"
"00469435"	"00198"
"00469436"	"00198"
"00469437"	"00198"
"00469438"	"00198"
"00469439"	"00198"
"00469440"	"00198"
"00469441"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00066, 00139, 00198, 00264, 00281, 00344, 00841, 04270, 05521, 05533, 05611
## Count = 108
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Intellectual_dis/HPO_0001249}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000036999"	"00198"	"00050387"	"00006"	"Isolated (sporadic)"	""	"deep philtrum, exaggerated cupids bow, macrocephaly, echolalia, global developmental delay, seizures, malar flattening"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037025"	"00198"	"00050413"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, intellectual disability, constipation, downslanted palpebral fissures, malar flattening, anteverted nares"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037148"	"00198"	"00050536"	"00006"	"Isolated (sporadic)"	""	"seizures, global developmental delay, delayed speech and language development, tapered finger"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037186"	"00198"	"00050574"	"00006"	"Isolated (sporadic)"	""	"cognitive impairment"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037212"	"00198"	"00050600"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, astigmatism, narrow mouth, depressed nasal bridge, round face, tapered finger, upslanted palpebral fissure, inverted nipples, infantile axial hypotonia, malar flattening, increased body weight, stereotypic behavior, broad-based gait"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037302"	"00198"	"00050690"	"00006"	"Isolated (sporadic)"	""	"polyhydramnios, global developmental delay, autism, ataxia, recurrent hand flapping, broad-based gait, delayed speech and language development, high-pitched  coarse voice, intermittent hyperventilation, generalized seizures"	""	""	""	""	""	""	""	""	""	""	""	""
"0000060582"	"00281"	"00081013"	"01758"	"Isolated (sporadic)"	""	"Epileptic encephalopathy, early infantile, 4 (OMIM:612164)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000060595"	"00281"	"00081026"	"01758"	"Isolated (sporadic)"	""	"Epileptic encephalopathy, early infantile, 4 (OMIM:612164)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000105731"	"00198"	"00132970"	"01807"	"Unknown"	""	"HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000117409"	"00198"	"00144673"	"01807"	"Unknown"	""	"HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000141835"	"00344"	"00177023"	"02552"	"Familial, autosomal dominant"	""	"HP:0008936\r\nHP:0002313\r\nHP:0005348\r\nHP:0007028\r\nHP:0007337\r\nHP:0006811\r\nHP:0002469\r\nHP:0000340\r\nHP:0002705\r\nHP:0005257\r\nHP:0000767\r\nHP:0001212"	""	""	"HP:0003623"	""	""	""	""	""	""	"Epileptic encephalopathy, early infantile, 4"	""	""
"0000143349"	"00344"	"00181099"	"02552"	"Isolated (sporadic)"	""	"HP:0000316\r\nHP:0000331\r\nHP:0000675\r\nHP:0000699\r\nHP:0000411\r\nHP:0002808\r\nHP:0001956\r\nHP:0001763\r\nHP:0001852"	"00y01m"	""	""	""	""	""	""	""	""	"EIEE-4"	""	""
"0000156834"	"00198"	"00037205"	"01164"	"Unknown"	""	"Ohtahara syndrome with therapyrefractary epilepsy, macrencephaly, hepatomegaly, global retardation; other patient: severe therapyrefractary epilepsy"	""	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000156835"	"00198"	"00037206"	"01164"	"Unknown"	""	"suspected West syndrome"	""	""	""	""	""	""	""	""	""	""	"West syndrome?"	""
"0000156836"	"00198"	"00037207"	"01164"	"Unknown"	""	"early childhood severe neonatal epilepsy , microcephaly,severe retardation"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156837"	"00198"	"00037208"	"01164"	"Unknown"	""	"develpomental delay, West syndrome, suspected nonketotic hyperglycinaemia"	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000156838"	"00198"	"00037209"	"01164"	"Unknown"	""	"Ohtahara syndrome"	""	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000156839"	"00198"	"00037211"	"01164"	"Unknown"	""	"RETT syndrome, Dysmorphiesyndrom mit muskulärer statomotorischer sprachlicher Retardierung unklarer Ätiologie, muskuläre Hypotonie, mild ataxia, epilepsy, mikrocephaly"	""	""	""	""	""	""	""	""	""	""	"Rett syndrome"	""
"0000157217"	"00198"	"00208545"	"01164"	"Unknown"	""	"HP:0001332 (Dystonia); HP:0000202 (Oral cleft); HP:0002571 (Achalasia)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000157630"	"04270"	"00209024"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy and global developmental delay"	""	""	""	""	""	""	""	""	""	"EIEE-4"	"epilepsy"	""
"0000157640"	"05533"	"00209034"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy, intellectual disability, and focal cortical dysplasia"	""	""	""	""	""	""	""	""	""	"EIEE-4"	"intellectual disability"	""
"0000171799"	"00198"	"00227777"	"00000"	"-"	""	"hypotonia, developmental delay and regression, ataxia, and autistic features"	""	""	""	""	""	""	""	""	""	""	"Neonatal epilepsy"	""
"0000171800"	"00264"	"00227778"	"00000"	"-"	""	"initial diagnosis atypical West syndrome"	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171801"	"00264"	"00227779"	"00000"	"Unknown"	""	"slight psychomotor development with eye contact, no head control"	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171802"	"00264"	"00227780"	"00000"	"-"	""	"severe MR, nail dysplasia, sterotypes, No walking, tremor"	"5m"	""	""	""	""	""	""	""	""	""	"Infantile epileptic encephalopathy"	""
"0000171803"	"00264"	"00227781"	"00000"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171804"	"00264"	"00227782"	"00000"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171805"	"00139"	"00227783"	"00000"	"Isolated (sporadic)"	""	"severre intellectual disability, partial complex epilepsy epilepsy, MRI normal, CT-scan normal, hypotonia"	""	"15y"	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000171806"	"00264"	"00227784"	"00000"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171807"	"00264"	"00227785"	"00000"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171808"	"00264"	"00227786"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171809"	"00264"	"00227787"	"00000"	"-"	""	"evolution to West syndrome"	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171810"	"00139"	"00227788"	"00000"	"Isolated (sporadic)"	""	"severe intellectual disability, partial complex epilepsy, hypotonia, CT-scan normal"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000171811"	"00264"	"00227789"	"00000"	"-"	""	"evolution to West syndrome"	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171812"	"00264"	"00227790"	"00000"	"-"	""	"evolution to West syndrome"	""	""	""	""	""	""	""	""	""	""	"early-onset epileptic encephalopathy"	""
"0000171813"	"00264"	"00227791"	"00000"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	"West syndrome"	""
"0000171814"	"00198"	"00227792"	"00000"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation, nonsyndromic epilepsy"	""
"0000171815"	"00264"	"00227793"	"00000"	"-"	""	"suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia"	"0d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171816"	"00264"	"00227794"	"00000"	"-"	""	"suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia"	"43d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171817"	"00264"	"00227795"	"00000"	"-"	""	"suppression-burst; no head control, no social contact, severe MR, spastic quadriplegia"	"15d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171818"	"00264"	"00227796"	"00000"	"-"	""	"suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia"	"2d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171819"	"00264"	"00227797"	"00000"	"-"	""	"suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia"	"2m"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171820"	"00264"	"00227798"	"00000"	"-"	""	"suppression-burst; moderate MR, Quadriplegia; eye pursuit and smiling from 4m, head control and rolling over from 6m"	"5d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171821"	"00264"	"00227799"	"00000"	"-"	""	"suppression-burst; no head control, no social contact, severe MR, spastic quadriplegia"	"1m"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171822"	"00264"	"00227800"	"00000"	"-"	""	"suppression-burst; evolution to West syndrome; no head control, smiling from 5m, severe MR, spastic quadriplegia"	"3d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171823"	"00264"	"00227801"	"00000"	"-"	""	"suppression-burst; evolution to West syndrome; no head control, no social contact, Severe MR, spastic quadriplegia"	"14d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171824"	"00264"	"00227802"	"00000"	"Isolated (sporadic)"	""	"suppression-burst; hypertonic, no head control, no smile; mild rigospastic quadriplegia, profound developmental delay"	"37d"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171825"	"00139"	"00227803"	"00000"	"-"	""	"no epilepsy; psychomotor development characterized by global delay"	""	""	""	""	""	""	""	""	""	""	"Intellectual disability"	""
"0000171826"	"00264"	"00227804"	"00000"	"-"	""	"No head control, No visual attention, Hypotonia"	"6m"	""	""	""	""	""	""	""	""	""	"West syndrome"	""
"0000171827"	"00264"	"00227805"	"00000"	"-"	""	"suppression-burst; Poor head control, poor visual attention, poor eye pursuit, severe hypotonia"	"1m"	""	""	""	""	""	""	""	""	""	"Early infantile epileptic encephalopathy with suppression-burst"	""
"0000171828"	"00198"	"00227806"	"00000"	"-"	""	"No speaking, hand stereotypies, walking with aid, smiling, incessant tremor"	"2m15d"	""	""	""	""	""	""	""	""	""	"Infantile spasms"	""
"0000171829"	"00198"	"00227807"	"00000"	"-"	""	"No speaking, tremor, right hemiparesis with extrapyramidal rigidity"	"2m"	""	""	""	""	""	""	""	""	""	"Infantile spasms"	""
"0000171830"	"00264"	"00227808"	"00000"	"-"	""	"Dyskinesia, hand stereotypes, Ataxic walking, No speech, Autistic features"	"<1d"	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000171831"	"00264"	"00227809"	"00000"	"-"	""	"Dyskinesia, Axial hypertonia"	"1m7d"	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000171832"	"00264"	"00227810"	"00000"	"-"	""	"Dyskinesia, No speech, Ataxic walking, sterotypic movements, Autistic features"	"1d"	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000171833"	"00264"	"00227811"	"00000"	"-"	""	"No walk, No speech"	"3d"	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000171834"	"00264"	"00227812"	"00000"	"-"	""	"Axial hypertonia, autistic features"	"1d"	""	""	""	""	""	""	""	""	""	"Ohtahara syndrome"	""
"0000187154"	"00198"	"00248153"	"01807"	"Unknown"	""	"EEG with burst suppression (HP:0010851); Seizures (HP:0001250)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000207317"	"00841"	"00269490"	"03512"	"Unknown"	""	"intellectual disability (HP:0001256)"	""	""	""	""	""	"mild"	""	""	""	""	""	""
"0000207320"	"00841"	"00269490"	"03512"	"Unknown"	""	"Epileptic Encephalopathy (HP:0200134)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000220832"	"00198"	"00287096"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Macrocephaly (HP:0000256); Large for gestational age (HP:0001520); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Tremor (HP:0001337); Myopia (HP:0000545); Plagiocephaly (HP:0001357)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223941"	"00198"	"00296535"	"01164"	"Unknown"	""	"Abnormality of muscle physiology (HP:0011804); Muscular hypotonia (HP:0001252); Abnormality of nervous system physiology (HP:0012638); Areflexia (HP:0001284)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000230113"	"05521"	"00303030"	"00006"	"Isolated (sporadic)"	""	"Epileptic encephalopathy, neonatal onset; age onset neonatal"	""	""	""	""	""	""	""	""	""	"EIEE4"	"seizures"	""
"0000230115"	"05521"	"00303032"	"00006"	"Isolated (sporadic)"	""	"Focal epilepsy, temporal lobe epilepsy; age onset childhood"	""	""	""	""	""	""	""	""	""	"EIEE4"	"seizures"	""
"0000230117"	"05521"	"00303034"	"00006"	"Isolated (sporadic)"	""	"Focal epilepsy, unclassified; age onset childhood"	""	""	""	""	""	""	""	""	""	"EIEE4"	"seizures"	""
"0000230218"	"00344"	"00303134"	"00006"	"Isolated (sporadic)"	""	"Ohtahara"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000230219"	"00344"	"00303135"	"00006"	"Unknown"	""	"Lennox Gastaut syndrome"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000230220"	"00344"	"00303136"	"00006"	"Isolated (sporadic)"	""	"early onset epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000230221"	"00344"	"00303137"	"00006"	"Isolated (sporadic)"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000230222"	"00344"	"00303138"	"00006"	"Isolated (sporadic)"	""	"early onset epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000230223"	"00344"	"00303139"	"00006"	"Isolated (sporadic)"	""	"Ohtahara"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000230224"	"00344"	"00303140"	"00006"	"Isolated (sporadic)"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	"EIEE4"	"epileptic encephalopathy"	""
"0000231858"	"04270"	"00306012"	"00006"	"Unknown"	"26y"	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000231859"	"04270"	"00306013"	"00006"	"Isolated (sporadic)"	"32y"	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000231860"	"04270"	"00306014"	"00006"	"Isolated (sporadic)"	"24y"	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000269724"	"00198"	"00374514"	"00006"	"Familial, autosomal dominant"	""	"Seizures since day 5 of her life and infantile spasms"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269725"	"00198"	"00374515"	"00006"	"Familial, autosomal dominant"	""	"Seizures since day 5 of her life and infantile spasms"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269726"	"00198"	"00374516"	"00006"	"Familial, autosomal dominant"	""	"Encephalopathy, generalized seizures since day 4of life and EEG showed multifocal spikes with burst suppression"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000270867"	"00198"	"00375654"	"00006"	"Familial, autosomal recessive"	""	"intellectual disability/developmental delay; ophthalmoplegia, strabismus; hypotonia, broad-based gait; MRI brain ventriculomegaly, ventricular asymmetry"	""	"3y"	""	""	""	""	""	""	""	""	""	""
"0000270875"	"00198"	"00375662"	"00006"	"Isolated (sporadic)"	""	"intellectual disability/developmental delay; ataxic cerebral palsy; ataxic CP, hypotonia, tremor, ataxia; MRI brain normal"	""	"1y"	""	""	""	""	""	""	""	""	""	""
"0000271543"	"00281"	"00376335"	"01164"	"Unknown"	""	"Abnormality of the face, Ataxia, Hypotonia, Global developmental delay, Truncal ataxia, Polymicrogyria, Abnormal cortical gyration, Muscular hypotonia of the trunk, Infantile axial hypotonia, Abnormality of coordination, Neurodevelopmental delay"	""	"00y03m"	""	""	""	""	""	""	""	""	""	""
"0000272446"	"00198"	"00377294"	"01807"	"Unknown"	""	"Neonatal seizure (HP:0032807)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000307649"	"00281"	"00415877"	"01164"	"Unknown"	"01y"	"Hypotonia, Myotonia of the face, Periventricular white matter hyperintensities, Delayed CNS myelination, Pineal cyst, Motor delay"	""	""	""	""	""	""	""	""	""	""	""	""
"0000310872"	"00198"	"00419591"	"02300"	"Isolated (sporadic)"	"1y"	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental abnormality"	""
"0000318777"	"04270"	"00427803"	"00006"	"Isolated (sporadic)"	"2y"	"intellectual disability; spasms, frequency 10/d; EEG hypsarrhythmia; MRI brain normal; resistant to antiepileptic drugs"	"8d"	""	""	""	""	""	""	""	""	""	"West syndrome"	""
"0000318778"	"04270"	"00427804"	"00006"	"Isolated (sporadic)"	"1y"	"intellectual disability; spasms, frequency 5/d; EEG hypsarrhythmia"	"2m"	""	""	""	""	""	""	""	""	""	"West syndrome"	""
"0000318779"	"04270"	"00427805"	"00006"	"Isolated (sporadic)"	"2y"	"intellectual disability; spasms, frequency 5/d; EEG hypsarrhythmia; controlled to antiepileptic drugs"	"3d"	""	""	""	""	""	""	""	""	""	"West syndrome"	""
"0000318965"	"00198"	"00428019"	"00006"	"Familial, autosomal dominant"	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325091"	"00198"	"00434852"	"00006"	"Isolated (sporadic)"	""	"global developmental delay or intellectual disability, seizures, autism spectrum disorder"	""	""	""	""	""	""	""	""	""	""	""	""
"0000328317"	"04270"	"00438413"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0000411 protruding ear; HP:0000750 delayed speech and language development; HP:0000752 hyperactivity; HP:0001249 intellectual disability; HP:0002353 eeg abnormality; HP:0012758 neurodevelopmental delay"	"6y"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000337136"	"00841"	"00447943"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., global developmental delay, macrosomia, tremor, hypotonia; seizure types migrating focal tonic clonic, generalized tonic, myoclonic, atonic; EEG Focal spike wave discharges; MRI brain abnormal periventricular white matter T2 signal"	"2m"	""	""	""	""	""	""	""	""	"DEE4"	"early infantile epileptic encephalopathy"	""
"0000338972"	"00139"	"00449825"	"03544"	"Isolated (sporadic)"	""	"HP:0001317, HP:0001249, HP:0000505, HP:0000750"	""	""	""	""	""	""	""	""	""	"DEE4"	"íntellectual disability"	""
"0000344351"	"00198"	"00455818"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"DEE4"	"neurogenetic diseases"	""
"0000344375"	"00198"	"00455842"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"DEE4"	"neurogenetic diseases"	""
"0000346694"	"05611"	"00458258"	"03544"	"Isolated (sporadic)"	""	"HP:0011343, HP:0000664, HP:0000322, HP:0010806, HP:0000574"	""	""	""	""	""	""	""	""	""	"DEE4"	"complex neurodevelopmental disorder"	""
"0000350567"	"00281"	"00464581"	"01164"	"Isolated (sporadic)"	"02y"	"Neurodevelopmental delay, Motor delay, Delayed speech and language development, Ataxia"	""	""	""	""	""	""	""	""	""	""	""	""
"0000350593"	"00281"	"00464606"	"01164"	"Unknown"	"13y"	"Neurodevelopmental delay, Motor delay, Ataxia, Dystonia, Intellectual disability, Seizure"	""	""	""	""	""	""	""	""	""	""	""	""
"0000352489"	"00198"	"00467282"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"DEE4"	"early infantile epileptic encephalopathy"	""
"0000352501"	"00198"	"00467294"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"DEE4"	"early infantile epileptic encephalopathy"	""
"0000353746"	"00198"	"00468593"	"00006"	"Unknown"	""	"developmental delay, intellectual disability, hypotonia"	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000354586"	"00198"	"00469433"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000354588"	"00198"	"00469435"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000354589"	"00198"	"00469436"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000354590"	"00198"	"00469437"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000354591"	"00198"	"00469438"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000354592"	"00198"	"00469439"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of metabolism/homeostasis"	""
"0000354593"	"00198"	"00469440"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000354594"	"00198"	"00469441"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""


## Screenings ## Do not remove or alter this header ##
## Count = 115
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037274"	"00037204"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037275"	"00037205"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037276"	"00037206"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037277"	"00037207"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037278"	"00037208"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037279"	"00037209"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037280"	"00037210"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037281"	"00037211"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037282"	"00037212"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037283"	"00037213"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000050332"	"00050387"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050358"	"00050413"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050481"	"00050536"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050519"	"00050574"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050545"	"00050600"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050635"	"00050690"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000081125"	"00081013"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081138"	"00081026"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000117349"	"00116881"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000133804"	"00132970"	"0"	"01807"	"01807"	"2017-11-10 16:51:24"	""	""	"SEQ"	"DNA"	""	""
"0000145530"	"00144673"	"1"	"01807"	"01807"	"2017-12-21 13:09:03"	"00001"	"2020-09-30 12:21:49"	"SEQ"	"DNA"	""	""
"0000177920"	"00177023"	"1"	"02552"	"02552"	"2018-08-16 16:27:33"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000182052"	"00181099"	"1"	"02552"	"02552"	"2018-09-27 11:26:28"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000209593"	"00208545"	"1"	"01164"	"01164"	"2018-12-10 11:04:33"	""	""	"SEQ-NG"	"DNA"	""	""
"0000210081"	"00209024"	"1"	"00006"	"00006"	"2018-12-22 15:10:51"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000210091"	"00209034"	"1"	"00006"	"00006"	"2018-12-22 15:10:51"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000228866"	"00227777"	"1"	"00000"	"00111"	"2011-09-04 05:05:51"	""	""	"arrayCGH"	"DNA"	""	""
"0000228867"	"00227778"	"1"	"00000"	"00006"	"2011-06-24 19:21:43"	""	""	"PCRq"	"DNA"	""	""
"0000228868"	"00227779"	"1"	"00000"	"00006"	"2011-06-24 19:21:43"	"00008"	"2019-03-12 17:11:51"	"arrayCGH;SEQ"	"DNA"	""	""
"0000228869"	"00227780"	"1"	"00000"	"00111"	"2011-09-04 01:14:18"	"00111"	"2011-09-04 04:05:13"	"arrayCGH"	"DNA"	""	""
"0000228870"	"00227781"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000228871"	"00227782"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000228872"	"00227783"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	"00006"	"2014-11-14 18:26:00"	"SEQ"	"DNA"	""	""
"0000228873"	"00227784"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000228874"	"00227785"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000228875"	"00227786"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000228876"	"00227787"	"1"	"00000"	"00002"	"2011-05-29 10:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000228877"	"00227788"	"1"	"00000"	"00002"	"2011-05-30 08:51:23"	"00006"	"2014-11-14 18:29:23"	"SEQ"	"DNA"	""	""
"0000228878"	"00227789"	"1"	"00000"	"00002"	"2011-05-31 10:06:58"	""	""	"SEQ"	"DNA"	""	""
"0000228879"	"00227790"	"1"	"00000"	"00002"	"2011-05-31 10:06:58"	""	""	"SEQ"	"DNA"	""	""
"0000228880"	"00227791"	"1"	"00000"	"00006"	"2011-06-24 19:21:43"	""	""	"SEQ"	"DNA"	""	""
"0000228881"	"00227792"	"1"	"00000"	"00006"	"2011-06-24 19:21:43"	""	""	"SEQ"	"DNA"	""	""
"0000228882"	"00227793"	"1"	"00000"	"00111"	"2011-09-03 00:46:13"	"00006"	"2011-09-03 19:41:48"	"SEQ"	"DNA"	""	""
"0000228883"	"00227794"	"1"	"00000"	"00111"	"2011-09-03 00:58:58"	"00006"	"2011-09-03 19:43:40"	"SEQ"	"DNA"	""	""
"0000228884"	"00227795"	"1"	"00000"	"00111"	"2011-09-03 01:07:35"	"00006"	"2011-09-03 19:45:16"	"SEQ"	"DNA"	""	""
"0000228885"	"00227796"	"1"	"00000"	"00111"	"2011-09-03 01:21:51"	"00006"	"2011-09-03 19:36:37"	"SEQ"	"DNA"	""	""
"0000228886"	"00227797"	"1"	"00000"	"00111"	"2011-09-03 01:33:59"	"00006"	"2011-09-03 19:34:00"	"SEQ"	"DNA"	""	""
"0000228887"	"00227798"	"1"	"00000"	"00111"	"2011-09-03 01:57:32"	"00006"	"2011-09-03 19:24:15"	"SEQ"	"DNA"	""	""
"0000228888"	"00227799"	"1"	"00000"	"00111"	"2011-09-03 02:08:26"	"00006"	"2011-09-03 19:21:15"	"SEQ"	"DNA"	""	""
"0000228889"	"00227800"	"1"	"00000"	"00111"	"2011-09-03 02:16:15"	""	""	"SEQ"	"DNA"	""	""
"0000228890"	"00227801"	"1"	"00000"	"00111"	"2011-09-03 02:27:27"	"00006"	"2011-09-03 19:13:43"	"SEQ"	"DNA"	""	""
"0000228891"	"00227802"	"1"	"00000"	"00111"	"2011-09-03 02:47:08"	"00006"	"2011-09-03 18:58:00"	"SEQ"	"DNA"	""	""
"0000228892"	"00227803"	"1"	"00000"	"00111"	"2011-09-03 03:21:37"	"00006"	"2011-09-03 19:08:06"	"SEQ"	"DNA"	""	""
"0000228893"	"00227804"	"1"	"00000"	"00111"	"2011-09-03 23:18:54"	"00111"	"2011-09-04 04:00:48"	"SEQ"	"DNA"	""	""
"0000228894"	"00227805"	"1"	"00000"	"00111"	"2011-09-03 23:30:52"	"00111"	"2011-09-04 03:58:53"	"SEQ"	"DNA"	""	""
"0000228895"	"00227806"	"1"	"00000"	"00111"	"2011-09-04 00:22:35"	"00111"	"2011-09-04 04:04:15"	"SEQ"	"DNA"	""	""
"0000228896"	"00227807"	"1"	"00000"	"00111"	"2011-09-04 00:36:33"	"00111"	"2011-09-04 04:07:23"	"SEQ"	"DNA"	""	""
"0000228897"	"00227808"	"1"	"00000"	"00111"	"2011-09-04 01:52:28"	""	""	"SEQ"	"DNA"	""	""
"0000228898"	"00227809"	"1"	"00000"	"00111"	"2011-09-04 02:10:12"	""	""	"SEQ"	"DNA"	""	""
"0000228899"	"00227810"	"1"	"00000"	"00111"	"2011-09-04 02:19:26"	""	""	"SEQ"	"DNA"	""	""
"0000228900"	"00227811"	"1"	"00000"	"00111"	"2011-09-04 04:25:12"	""	""	"SEQ"	"DNA"	""	""
"0000228901"	"00227812"	"1"	"00000"	"00111"	"2011-09-04 04:40:52"	""	""	"SEQ"	"DNA"	""	""
"0000245547"	"00244436"	"1"	"01227"	"01227"	"2019-06-24 15:25:48"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000249258"	"00248153"	"1"	"01807"	"01807"	"2019-07-19 11:45:01"	""	""	"SEQ"	"DNA"	""	""
"0000270644"	"00269490"	"1"	"03512"	"03512"	"2019-11-28 18:09:12"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000288261"	"00287096"	"1"	"01807"	"01807"	"2020-02-12 11:23:49"	""	""	"SEQ"	"DNA"	""	""
"0000295907"	"00294739"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297645"	"00296535"	"1"	"01164"	"01164"	"2020-04-08 09:45:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000304155"	"00303030"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304157"	"00303032"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304159"	"00303034"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304259"	"00303134"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304260"	"00303135"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304261"	"00303136"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304262"	"00303137"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304263"	"00303138"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304264"	"00303139"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304265"	"00303140"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000307142"	"00306012"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307143"	"00306013"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307144"	"00306014"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000308958"	"00307818"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000375708"	"00374514"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375709"	"00374515"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375710"	"00374516"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376851"	"00375654"	"1"	"00006"	"00006"	"2021-06-14 20:30:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376859"	"00375662"	"1"	"00006"	"00006"	"2021-06-14 20:30:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377531"	"00376335"	"1"	"01164"	"01164"	"2021-06-21 13:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000378496"	"00377294"	"1"	"01807"	"01807"	"2021-07-19 15:16:01"	""	""	"SEQ"	"DNA"	""	""
"0000417158"	"00415877"	"1"	"01164"	"01164"	"2022-08-17 13:32:16"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000420895"	"00419591"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000429126"	"00427803"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429127"	"00427804"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429128"	"00427805"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429432"	"00428019"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"whole blood"	"singleton WES"
"0000436324"	"00434852"	"1"	"00006"	"00006"	"2023-04-07 18:27:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000439895"	"00438413"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000449514"	"00447943"	"1"	"00006"	"00006"	"2024-02-02 18:50:24"	""	""	"arrayCGH;SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000451421"	"00449825"	"1"	"03544"	"03544"	"2024-05-16 12:29:35"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000457434"	"00455818"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000457458"	"00455842"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000459880"	"00458258"	"1"	"03544"	"03544"	"2024-12-11 11:31:49"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000466222"	"00464581"	"1"	"01164"	"01164"	"2025-03-31 13:25:30"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000466248"	"00464606"	"1"	"01164"	"01164"	"2025-04-01 12:03:01"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000468945"	"00467282"	"1"	"00006"	"00006"	"2025-10-10 16:20:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468957"	"00467294"	"1"	"00006"	"00006"	"2025-10-10 16:20:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470261"	"00468593"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471101"	"00469433"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471103"	"00469435"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471104"	"00469436"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471105"	"00469437"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471106"	"00469438"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471107"	"00469439"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471108"	"00469440"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471109"	"00469441"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 79
"{{screeningid}}"	"{{geneid}}"
"0000037274"	"STXBP1"
"0000037275"	"STXBP1"
"0000037276"	"STXBP1"
"0000037277"	"STXBP1"
"0000037278"	"STXBP1"
"0000037279"	"STXBP1"
"0000037280"	"STXBP1"
"0000037281"	"STXBP1"
"0000037282"	"STXBP1"
"0000037283"	"STXBP1"
"0000050332"	"STXBP1"
"0000050358"	"STXBP1"
"0000050481"	"STXBP1"
"0000050519"	"STXBP1"
"0000050545"	"STXBP1"
"0000050635"	"STXBP1"
"0000081125"	"STXBP1"
"0000081138"	"STXBP1"
"0000210081"	"STXBP1"
"0000210091"	"STXBP1"
"0000228866"	"STXBP1"
"0000228867"	"STXBP1"
"0000228868"	"SPTBN1"
"0000228868"	"STXBP1"
"0000228869"	"STXBP1"
"0000228870"	"STXBP1"
"0000228871"	"STXBP1"
"0000228872"	"STXBP1"
"0000228873"	"STXBP1"
"0000228874"	"STXBP1"
"0000228875"	"STXBP1"
"0000228876"	"STXBP1"
"0000228877"	"STXBP1"
"0000228878"	"STXBP1"
"0000228879"	"STXBP1"
"0000228880"	"STXBP1"
"0000228881"	"STXBP1"
"0000228882"	"STXBP1"
"0000228883"	"STXBP1"
"0000228884"	"STXBP1"
"0000228885"	"STXBP1"
"0000228886"	"STXBP1"
"0000228887"	"STXBP1"
"0000228888"	"STXBP1"
"0000228889"	"STXBP1"
"0000228890"	"STXBP1"
"0000228891"	"STXBP1"
"0000228892"	"STXBP1"
"0000228893"	"STXBP1"
"0000228894"	"STXBP1"
"0000228895"	"STXBP1"
"0000228896"	"STXBP1"
"0000228897"	"STXBP1"
"0000228898"	"STXBP1"
"0000228899"	"STXBP1"
"0000228900"	"STXBP1"
"0000228901"	"STXBP1"
"0000245547"	"STXBP1"
"0000304155"	"STXBP1"
"0000304157"	"STXBP1"
"0000304159"	"STXBP1"
"0000304259"	"STXBP1"
"0000304260"	"STXBP1"
"0000304261"	"STXBP1"
"0000304262"	"STXBP1"
"0000304263"	"STXBP1"
"0000304264"	"STXBP1"
"0000304265"	"STXBP1"
"0000307142"	"STXBP1"
"0000307143"	"STXBP1"
"0000307144"	"STXBP1"
"0000308958"	"STXBP1"
"0000375708"	"STXBP1"
"0000375709"	"STXBP1"
"0000375710"	"STXBP1"
"0000377531"	"STXBP1"
"0000417158"	"STXBP1"
"0000466222"	"STXBP1"
"0000466248"	"STXBP1"


## 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 = 208
"{{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}}"
"0000064399"	"1"	"50"	"9"	"130425643"	"130425643"	"subst"	"1.62616E-5"	"01164"	"STXBP1_000044"	"g.130425643G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127663364G>T"	""	"VUS"	""
"0000064400"	"1"	"10"	"9"	"130427627"	"130427627"	"subst"	"0.0168818"	"01164"	"STXBP1_000045"	"g.130427627C>T"	""	""	""	""	""	"Germline"	""	"rs140247913"	"0"	""	""	"g.127665348C>T"	""	"benign"	""
"0000064401"	"1"	"50"	"9"	"130430473"	"130430473"	"subst"	"4.10435E-6"	"01164"	"STXBP1_000046"	"g.130430473G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127668194G>C"	""	"VUS"	""
"0000064402"	"1"	"50"	"9"	"130422346"	"130422346"	"subst"	"4.06072E-6"	"01164"	"STXBP1_000043"	"g.130422346C>T"	""	""	""	""	"PolyPhen-2: PSIC: 0.025"	"Germline"	""	""	"0"	""	""	"g.127660067C>T"	""	"VUS"	""
"0000064403"	"1"	"50"	"9"	"130446657"	"130446657"	"subst"	"4.0627E-6"	"01164"	"STXBP1_000050"	"g.130446657C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127684378C>T"	""	"VUS"	""
"0000064404"	"1"	"90"	"9"	"130435540"	"130435540"	"subst"	"0"	"01164"	"STXBP1_000049"	"g.130435540G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127673261G>C"	""	"pathogenic"	""
"0000064405"	"1"	"50"	"9"	"130422308"	"130422308"	"del"	"0"	"01164"	"STXBP1_000042"	"g.130422308del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127660029del"	""	"VUS"	""
"0000064406"	"1"	"50"	"9"	"130413879"	"130413879"	"subst"	"0.0118441"	"01164"	"STXBP1_000041"	"g.130413879T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127651600T>C"	""	"VUS"	""
"0000064407"	"1"	"50"	"9"	"130430498"	"130430498"	"subst"	"0.001827"	"01164"	"STXBP1_000047"	"g.130430498G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127668219G>C"	""	"VUS"	""
"0000064408"	"1"	"50"	"9"	"130434366"	"130434366"	"subst"	"0"	"01164"	"STXBP1_000048"	"g.130434366A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.127672087A>T"	""	"VUS"	""
"0000079312"	"0"	"90"	"9"	"130416053"	"130416054"	"delins"	"0"	"00006"	"STXBP1_000056"	"g.130416053_130416054delCinsCA"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	"g.127653774_127653775delinsCA"	""	"pathogenic"	""
"0000079338"	"0"	"90"	"9"	"130428485"	"130428485"	"subst"	"0"	"00006"	"STXBP1_000051"	"g.130428485G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127666206G>A"	""	"pathogenic"	""
"0000079461"	"0"	"90"	"9"	"130425490"	"130425492"	"delins"	"0"	"00006"	"STXBP1_000055"	"g.130425490_130425492delTCinsT"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	"g.127663211_127663213delinsT"	""	"pathogenic"	""
"0000079499"	"0"	"90"	"9"	"130428559"	"130428559"	"subst"	"0"	"00006"	"STXBP1_000052"	"g.130428559G>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127666280G>T"	""	"pathogenic"	""
"0000079525"	"0"	"90"	"9"	"130444768"	"130444768"	"subst"	"0"	"00006"	"STXBP1_000054"	"g.130444768G>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127682489G>T"	""	"pathogenic"	""
"0000079615"	"0"	"90"	"9"	"130435529"	"130435529"	"subst"	"0"	"00006"	"STXBP1_000053"	"g.130435529C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127673250C>T"	""	"pathogenic"	""
"0000130211"	"0"	"90"	"9"	"130428484"	"130428484"	"subst"	"0"	"01758"	"STXBP1_000021"	"g.130428484C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127666205C>T"	""	"pathogenic"	"ACMG"
"0000130224"	"0"	"90"	"9"	"130435490"	"130435490"	"subst"	"0"	"01758"	"STXBP1_000057"	"g.130435490T>C"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127673211T>C"	""	"pathogenic"	"ACMG"
"0000188461"	"0"	"50"	"9"	"130430417"	"130430417"	"subst"	"0"	"02192"	"STXBP1_000059"	"g.130430417G>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.127668138G>A"	""	"VUS"	""
"0000223232"	"0"	"50"	"9"	"130439041"	"130439041"	"subst"	"0"	"01807"	"STXBP1_000040"	"g.130439041C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.127676762C>T"	""	"VUS"	""
"0000237905"	"0"	"90"	"9"	"130428566"	"130428568"	"del"	"0"	"01807"	"STXBP1_000060"	"g.130428566_130428568delinsCC"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127666287_127666289delinsCC"	""	"pathogenic"	""
"0000248087"	"0"	"30"	"9"	"130422301"	"130422301"	"subst"	"0.00361424"	"02325"	"STXBP1_000063"	"g.130422301A>G"	""	""	""	"STXBP1(NM_003165.3):c.247-8A>G, STXBP1(NM_003165.6):c.247-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127660022A>G"	""	"likely benign"	""
"0000250778"	"0"	"30"	"9"	"130422301"	"130422301"	"subst"	"0.00361424"	"02326"	"STXBP1_000063"	"g.130422301A>G"	""	""	""	"STXBP1(NM_003165.3):c.247-8A>G, STXBP1(NM_003165.6):c.247-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127660022A>G"	""	"likely benign"	""
"0000250818"	"0"	"30"	"9"	"130423373"	"130423373"	"subst"	"0.000134021"	"02326"	"STXBP1_000065"	"g.130423373A>G"	""	""	""	"STXBP1(NM_003165.3):c.326-8A>G, STXBP1(NM_003165.6):c.326-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127661094A>G"	""	"likely benign"	""
"0000251437"	"0"	"10"	"9"	"130420742"	"130420742"	"subst"	"4.06405E-6"	"02326"	"STXBP1_000062"	"g.130420742A>G"	""	""	""	"STXBP1(NM_003165.6):c.246+12A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127658463A>G"	""	"benign"	""
"0000252372"	"0"	"70"	"9"	"130428566"	"130428566"	"subst"	"0"	"02326"	"STXBP1_000074"	"g.130428566A>T"	""	""	""	"STXBP1(NM_003165.6):c.785A>T (p.D262V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127666287A>T"	""	"likely pathogenic"	""
"0000252425"	"0"	"70"	"9"	"130435539"	"130435539"	"subst"	"0"	"02326"	"STXBP1_000078"	"g.130435539A>C"	""	""	""	"STXBP1(NM_003165.6):c.1109A>C (p.Q370P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127673260A>C"	""	"likely pathogenic"	""
"0000252618"	"0"	"90"	"9"	"130427524"	"130427524"	"subst"	"0"	"02326"	"STXBP1_000070"	"g.130427524A>G"	""	""	""	"STXBP1(NM_003165.6):c.579-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127665245A>G"	""	"pathogenic"	""
"0000253997"	"0"	"30"	"9"	"130422301"	"130422301"	"subst"	"0.00361424"	"01943"	"STXBP1_000063"	"g.130422301A>G"	""	""	""	"STXBP1(NM_003165.3):c.247-8A>G, STXBP1(NM_003165.6):c.247-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127660022A>G"	""	"likely benign"	""
"0000254037"	"0"	"30"	"9"	"130423373"	"130423373"	"subst"	"0.000134021"	"01943"	"STXBP1_000065"	"g.130423373A>G"	""	""	""	"STXBP1(NM_003165.3):c.326-8A>G, STXBP1(NM_003165.6):c.326-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127661094A>G"	""	"likely benign"	""
"0000311602"	"0"	"30"	"9"	"130438903"	"130438903"	"subst"	"0.000235265"	"02325"	"STXBP1_000080"	"g.130438903C>T"	""	""	""	"STXBP1(NM_003165.6):c.1250-20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127676624C>T"	""	"likely benign"	""
"0000311603"	"0"	"30"	"9"	"130444685"	"130444685"	"subst"	"0.00136241"	"02325"	"STXBP1_000086"	"g.130444685C>T"	""	""	""	"STXBP1(NM_003165.3):c.1548C>T (p.S516=), STXBP1(NM_003165.6):c.1548C>T (p.S516=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682406C>T"	""	"likely benign"	""
"0000311604"	"0"	"30"	"9"	"130444849"	"130444849"	"subst"	"0.000753343"	"02325"	"STXBP1_000090"	"g.130444849C>T"	""	""	""	"STXBP1(NM_003165.6):c.1702+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682570C>T"	""	"likely benign"	""
"0000311605"	"0"	"30"	"9"	"130422395"	"130422395"	"subst"	"0.00384993"	"02325"	"STXBP1_000064"	"g.130422395C>T"	""	""	""	"STXBP1(NM_003165.3):c.325+8C>T, STXBP1(NM_003165.6):c.325+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127660116C>T"	""	"likely benign"	""
"0000311606"	"0"	"90"	"9"	"130425633"	"130425633"	"subst"	"0"	"02325"	"STXBP1_000069"	"g.130425633G>A"	""	""	""	"STXBP1(NM_003165.6):c.578+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127663354G>A"	""	"pathogenic"	""
"0000311607"	"0"	"30"	"9"	"130430476"	"130430476"	"subst"	"2.05127E-5"	"02325"	"STXBP1_000076"	"g.130430476C>T"	""	""	""	"STXBP1(NM_003165.6):c.902+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127668197C>T"	""	"likely benign"	""
"0000313205"	"0"	"70"	"9"	"130428502"	"130428502"	"subst"	"0"	"02329"	"STXBP1_000072"	"g.130428502T>C"	""	""	""	"STXBP1(NM_003165.6):c.721T>C (p.S241P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127666223T>C"	""	"likely pathogenic"	""
"0000314190"	"0"	"10"	"9"	"130435223"	"130435223"	"subst"	"0"	"02326"	"STXBP1_000077"	"g.130435223T>A"	""	""	""	"STXBP1(NM_003165.6):c.1030-237T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127672944T>A"	""	"benign"	""
"0000314191"	"0"	"90"	"9"	"130438189"	"130438189"	"subst"	"0"	"02326"	"STXBP1_000079"	"g.130438189G>A"	""	""	""	"STXBP1(NM_001032221.6):c.1217G>A (p.R406H), STXBP1(NM_003165.6):c.1217G>A (p.R406H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127675910G>A"	""	"pathogenic"	""
"0000314192"	"0"	"30"	"9"	"130439012"	"130439012"	"subst"	"4.08123E-6"	"02326"	"STXBP1_000081"	"g.130439012G>A"	""	""	""	"STXBP1(NM_003165.6):c.1339G>A (p.G447S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127676733G>A"	""	"likely benign"	""
"0000314193"	"0"	"90"	"9"	"130440709"	"130440709"	"subst"	"0"	"02326"	"STXBP1_000082"	"g.130440709G>T"	""	""	""	"STXBP1(NM_003165.6):c.1360-1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127678430G>T"	""	"pathogenic"	""
"0000314194"	"0"	"10"	"9"	"130442580"	"130442580"	"subst"	"0"	"02326"	"STXBP1_000083"	"g.130442580C>G"	""	""	""	"STXBP1(NM_003165.6):c.1547+59C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127680301C>G"	""	"benign"	""
"0000314195"	"0"	"10"	"9"	"130442584"	"130442584"	"subst"	"0"	"02326"	"STXBP1_000084"	"g.130442584G>A"	""	""	""	"STXBP1(NM_003165.6):c.1547+63G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127680305G>A"	""	"benign"	""
"0000314196"	"0"	"30"	"9"	"130444674"	"130444677"	"del"	"0"	"02326"	"STXBP1_000085"	"g.130444674_130444677del"	""	""	""	"STXBP1(NM_003165.6):c.1548-11_1548-8delCTCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682395_127682398del"	""	"likely benign"	""
"0000314197"	"0"	"30"	"9"	"130444685"	"130444685"	"subst"	"0.00136241"	"02326"	"STXBP1_000086"	"g.130444685C>T"	""	""	""	"STXBP1(NM_003165.3):c.1548C>T (p.S516=), STXBP1(NM_003165.6):c.1548C>T (p.S516=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682406C>T"	""	"likely benign"	""
"0000314198"	"0"	"70"	"9"	"130444799"	"130444799"	"subst"	"0"	"02326"	"STXBP1_000088"	"g.130444799C>A"	""	""	""	"STXBP1(NM_001032221.6):c.1662C>A (p.(Tyr554*)), STXBP1(NM_003165.6):c.1662C>A (p.Y554*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682520C>A"	""	"likely pathogenic"	""
"0000314199"	"0"	"10"	"9"	"130444849"	"130444849"	"subst"	"0.000753343"	"02326"	"STXBP1_000090"	"g.130444849C>T"	""	""	""	"STXBP1(NM_003165.6):c.1702+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682570C>T"	""	"benign"	""
"0000314200"	"0"	"30"	"9"	"130422395"	"130422395"	"subst"	"0.00384993"	"02326"	"STXBP1_000064"	"g.130422395C>T"	""	""	""	"STXBP1(NM_003165.3):c.325+8C>T, STXBP1(NM_003165.6):c.325+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127660116C>T"	""	"likely benign"	""
"0000314201"	"0"	"10"	"9"	"130413866"	"130413867"	"del"	"0"	"02326"	"STXBP1_000061"	"g.130413866_130413867del"	""	""	""	"STXBP1(NM_003165.6):c.38-16_38-15delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127651587_127651588del"	""	"benign"	""
"0000314202"	"0"	"30"	"9"	"130413879"	"130413879"	"subst"	"0.0118441"	"02326"	"STXBP1_000041"	"g.130413879T>C"	""	""	""	"STXBP1(NM_003165.6):c.38-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127651600T>C"	""	"likely benign"	""
"0000314203"	"0"	"70"	"9"	"130425612"	"130425612"	"subst"	"0"	"02326"	"STXBP1_000067"	"g.130425612C>A"	""	""	""	"STXBP1(NM_003165.6):c.558C>A (p.Y186*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127663333C>A"	""	"likely pathogenic"	""
"0000314204"	"0"	"70"	"9"	"130425623"	"130425623"	"subst"	"0"	"02326"	"STXBP1_000068"	"g.130425623G>A"	""	""	""	"STXBP1(NM_003165.3):c.569G>A (p.(Arg190Gln)), STXBP1(NM_003165.6):c.569G>A (p.R190Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127663344G>A"	""	"likely pathogenic"	""
"0000314205"	"0"	"30"	"9"	"130427627"	"130427627"	"subst"	"0.0168818"	"02326"	"STXBP1_000045"	"g.130427627C>T"	""	""	""	"STXBP1(NM_003165.6):c.663+17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127665348C>T"	""	"likely benign"	""
"0000314206"	"0"	"90"	"9"	"130428484"	"130428484"	"subst"	"0"	"02326"	"STXBP1_000021"	"g.130428484C>T"	""	""	""	"STXBP1(NM_003165.6):c.703C>T (p.R235*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127666205C>T"	""	"pathogenic"	""
"0000314207"	"0"	"70"	"9"	"130430424"	"130430424"	"subst"	"0"	"02326"	"STXBP1_000075"	"g.130430424T>C"	""	""	""	"STXBP1(NM_003165.6):c.860T>C (p.L287P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127668145T>C"	""	"likely pathogenic"	""
"0000314208"	"0"	"30"	"9"	"130430476"	"130430476"	"subst"	"2.05127E-5"	"02326"	"STXBP1_000076"	"g.130430476C>T"	""	""	""	"STXBP1(NM_003165.6):c.902+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127668197C>T"	""	"likely benign"	""
"0000315903"	"0"	"30"	"9"	"130444799"	"130444799"	"subst"	"0.000203105"	"01943"	"STXBP1_000089"	"g.130444799C>T"	""	""	""	"STXBP1(NM_003165.3):c.1662C>T (p.Y554=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682520C>T"	""	"likely benign"	""
"0000315904"	"0"	"90"	"9"	"130428502"	"130428502"	"del"	"0"	"01943"	"STXBP1_000073"	"g.130428502del"	""	""	""	"STXBP1(NM_003165.3):c.721delT (p.S241Pfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127666223del"	""	"pathogenic"	""
"0000332793"	"0"	"50"	"9"	"130430473"	"130430473"	"subst"	"4.10435E-6"	"01804"	"STXBP1_000046"	"g.130430473G>C"	""	""	""	"STXBP1(NM_001032221.3):c.902+7G>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127668194G>C"	""	"VUS"	""
"0000337138"	"0"	"90"	"9"	"130427524"	"130427524"	"subst"	"0"	"02327"	"STXBP1_000070"	"g.130427524A>G"	""	""	""	"STXBP1(NM_003165.6):c.579-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127665245A>G"	""	"pathogenic"	""
"0000338965"	"0"	"90"	"9"	"130438082"	"130438082"	"subst"	"0"	"02327"	"STXBP1_000098"	"g.130438082G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127675803G>A"	""	"pathogenic"	""
"0000341796"	"0"	"90"	"9"	"130423419"	"130423419"	"subst"	"0"	"02327"	"STXBP1_000091"	"g.130423419C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127661140C>T"	""	"pathogenic"	""
"0000342352"	"0"	"90"	"9"	"130428484"	"130428484"	"subst"	"0"	"02327"	"STXBP1_000021"	"g.130428484C>T"	""	""	""	"STXBP1(NM_003165.6):c.703C>T (p.R235*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127666205C>T"	""	"pathogenic"	""
"0000342556"	"0"	"90"	"9"	"130430438"	"130430438"	"subst"	"0"	"02327"	"STXBP1_000096"	"g.130430438C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127668159C>T"	""	"pathogenic"	""
"0000342788"	"0"	"90"	"9"	"130438134"	"130438134"	"subst"	"0"	"02327"	"STXBP1_000099"	"g.130438134C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127675855C>T"	""	"pathogenic"	""
"0000343092"	"0"	"90"	"9"	"130444788"	"130444788"	"subst"	"0"	"02327"	"STXBP1_000103"	"g.130444788C>T"	""	""	""	"STXBP1(NM_003165.6):c.1651C>T (p.R551C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682509C>T"	""	"pathogenic"	""
"0000343094"	"0"	"90"	"9"	"130444789"	"130444789"	"subst"	"0"	"02327"	"STXBP1_000104"	"g.130444789G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127682510G>A"	""	"pathogenic"	""
"0000344098"	"0"	"50"	"9"	"130438979"	"130438979"	"subst"	"0"	"02327"	"STXBP1_000100"	"g.130438979G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127676700G>A"	""	"VUS"	""
"0000344797"	"0"	"90"	"9"	"130435538"	"130435538"	"subst"	"0"	"02327"	"STXBP1_000097"	"g.130435538C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127673259C>T"	""	"pathogenic"	""
"0000345324"	"0"	"90"	"9"	"130430411"	"130430411"	"subst"	"0"	"02327"	"STXBP1_000095"	"g.130430411G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127668132G>A"	""	"pathogenic"	""
"0000345436"	"0"	"90"	"9"	"130440746"	"130440746"	"subst"	"0"	"02327"	"STXBP1_000102"	"g.130440746G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127678467G>T"	""	"pathogenic"	""
"0000350710"	"0"	"90"	"9"	"130427523"	"130427523"	"subst"	"0"	"02327"	"STXBP1_000093"	"g.130427523C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127665244C>G"	""	"pathogenic"	""
"0000350882"	"0"	"90"	"9"	"130423489"	"130423489"	"subst"	"0"	"02327"	"STXBP1_000092"	"g.130423489G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127661210G>C"	""	"pathogenic"	""
"0000350883"	"0"	"90"	"9"	"130428443"	"130428443"	"subst"	"0"	"02327"	"STXBP1_000094"	"g.130428443A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127666164A>C"	""	"pathogenic"	""
"0000350884"	"0"	"90"	"9"	"130439037"	"130439037"	"subst"	"0"	"02327"	"STXBP1_000101"	"g.130439037G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.127676758G>C"	""	"pathogenic"	""
"0000368375"	"0"	"90"	"9"	"130428566"	"130428566"	"del"	"0"	"01807"	"STXBP1_000106"	"g.130428566del"	""	""	""	"785delA"	""	"Unknown"	""	""	"0"	""	""	"g.127666287del"	""	"pathogenic"	""
"0000400798"	"0"	"70"	"9"	"130438941"	"130438941"	"subst"	"0"	"02552"	"STXBP1_000107"	"g.130438941T>C"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127676662T>C"	""	"likely pathogenic (dominant)"	""
"0000405872"	"0"	"70"	"9"	"130422393"	"130422393"	"subst"	"0"	"02552"	"STXBP1_000108"	"g.130422393T>C"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127660114T>C"	""	"likely pathogenic (dominant)"	""
"0000439751"	"0"	"70"	"9"	"130430428"	"130430428"	"subst"	"0"	"01164"	"STXBP1_000109"	"g.130430428G>A"	""	""	""	""	"ACMG grading: PM2,PVS1; co-occurrence with pathogenic variant in C19ORF12 (c.197_199del p.Gly66del homozygous)"	"Germline"	""	""	"0"	""	""	"g.127668149G>A"	""	"likely pathogenic"	"ACMG"
"0000441251"	"0"	"90"	"9"	"130428536"	"130428536"	"subst"	"0"	"00006"	"STXBP1_000110"	"g.130428536T>C"	""	"{PMID:Lionel 2018:28771251}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127666257T>C"	""	"pathogenic (dominant)"	""
"0000441262"	"0"	"90"	"9"	"130415943"	"130420935"	"del"	"0"	"00006"	"STXBP1_000111"	"g.130415943_130420935del"	""	"{PMID:Lionel 2018:28771251}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127653664_127658656del"	""	"pathogenic (dominant)"	""
"0000469128"	"1"	"99"	"9"	"130374486"	"130420730"	"del"	"0"	"00000"	"STXBP1_000035"	"g.130374486_130420730del"	""	"{PMID:Boone 2010:20848651}"	""	""	"deletion 47-86 kb\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000469129"	"1"	"95"	"9"	"0"	"0"	""	"0"	"00000"	"STXBP1_000011"	"g.?"	"1/106"	"{PMID:Deprez 2010:20876469}"	""	""	"deletion 42.3-116 Kb, might affect FAM129B gene"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000469130"	"1"	"95"	"9"	"130374486"	"130454995"	""	"0"	"00000"	"STXBP1_000014"	"g.((?_130374486)_(130454995_?)del"	""	"{PMID:Saitsu 2008:18469812}"	""	""	"deletion 2 Mb (FAM125B to CEECAM1) incl. entire gene"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000469131"	"1"	"99"	"9"	"0"	"0"	""	"0"	"00000"	"STXBP1_000029"	"g.?"	""	"{PMID:Mignot 2011:21762454}"	""	""	"deletion 3.14-3.3 Mb"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000469132"	"1"	"99"	"9"	"130416063"	"130416063"	"subst"	"0"	"00000"	"STXBP1_000018"	"g.130416063G>T"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127653784G>T"	""	"pathogenic"	""
"0000469133"	"1"	"95"	"9"	"130416076"	"130416076"	"subst"	"0"	"00000"	"STXBP1_000008"	"g.130416076G>A"	""	"{PMID:Hamdan 2009:19557857}, {PMID:Hamdan 2011:21376300}"	""	""	"not in 380 control chromosomes; no variants in STX1A, VAMP2, SNAP25, SYT1; expression variant allele difficult to detect"	"De novo"	""	""	"0"	""	""	"g.127653797G>A"	""	"pathogenic"	""
"0000469134"	"1"	"99"	"9"	"130420716"	"130420719"	"del"	"0"	"00000"	"STXBP1_000026"	"g.130420716_130420719del"	""	"{PMID:Otsuka 2010:21204804}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127658437_127658440del"	""	"pathogenic"	""
"0000469135"	"1"	"95"	"9"	"130422313"	"130422313"	"subst"	"0"	"00000"	"STXBP1_000001"	"g.130422313T>A"	""	"{PMID:Saitsu 2008:18469812}"	""	""	"not in 500 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.127660034T>A"	""	"pathogenic"	""
"0000469136"	"1"	"99"	"9"	"130423443"	"130423444"	"del"	"0"	"00000"	"STXBP1_000019"	"g.130423443_130423444del"	""	"{PMID:Saitsu 2010:20887364}"	""	"388_389delCT"	""	"De novo"	""	""	"0"	""	""	"g.127661164_127661165del"	""	"pathogenic"	""
"0000469137"	"1"	"95"	"9"	"130423485"	"130423485"	"subst"	"0"	"00000"	"STXBP1_000010"	"g.130423485G>A"	"1/106"	"{PMID:Deprez 2010:20876469}"	""	""	"not in 500 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.127661206G>A"	""	"pathogenic"	""
"0000469138"	"11"	"35"	"9"	"130425509"	"130425509"	"subst"	"0"	"00000"	"STXBP1_000013"	"g.130425509C>G"	""	"{PMID:Hamdan 2009:19557857}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.127663230C>G"	""	"likely benign"	""
"0000469139"	"1"	"99"	"9"	"130425602"	"130425602"	"subst"	"0"	"00000"	"STXBP1_000034"	"g.130425602T>G"	""	"{PMID:Milh 2011:21770924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127663323T>G"	""	"pathogenic"	""
"0000469140"	"1"	"99"	"9"	"130427526"	"130438221"	"del"	"0"	"00000"	"STXBP1_000033"	"g.130427526_130438221del"	""	"{PMID:Milh 2011:21770924}"	""	""	"Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000469141"	"1"	"95"	"9"	"130425593"	"130425593"	"subst"	"0"	"00000"	"STXBP1_000002"	"g.130425593G>A"	""	"{PMID:Saitsu 2008:18469812}"	""	""	"not in 500 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.127663314G>A"	""	"pathogenic"	""
"0000469142"	"1"	"99"	"9"	"130427615"	"130427615"	"subst"	"0"	"00000"	"STXBP1_000020"	"g.130427615G>A"	""	"{PMID:Saitsu 2010:20887364}"	""	""	"exon 8 skipped"	"De novo"	""	""	"0"	""	""	"g.127665336G>A"	""	"pathogenic"	""
"0000469143"	"1"	"99"	"9"	"130428484"	"130428484"	"subst"	"0"	"00000"	"STXBP1_000021"	"g.130428484C>T"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127666205C>T"	""	"pathogenic"	""
"0000469144"	"1"	"99"	"9"	"130428528"	"130428528"	"dup"	"0"	"00000"	"STXBP1_000022"	"g.130428528dup"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127666249dup"	""	"pathogenic"	""
"0000469145"	"1"	"95"	"9"	"130430457"	"130430458"	"del"	"0"	"00000"	"STXBP1_000007"	"g.130430457_130430458del"	"1/106"	"{PMID:Deprez 2010:20876469}"	""	""	"not in 500 control chromosomes; possibly de novo, parents not available"	"Unknown"	""	""	"0"	""	""	"g.127668178_127668179del"	""	"pathogenic"	""
"0000469146"	"1"	"99"	"9"	"130430467"	"130430467"	"subst"	"0"	"00000"	"STXBP1_000030"	"g.130430467G>A"	""	"{PMID:Milh 2011:21770924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127668188G>A"	""	"pathogenic"	""
"0000469147"	"11"	"99"	"9"	"130430471"	"130430471"	"subst"	"0"	"00000"	"STXBP1_000024"	"g.130430471G>A"	""	"{PMID:Saitsu 2010:21062273}"	""	""	"variant affects splicing, resulting in 138-bp intron 10 insert"	"Unknown"	""	""	"0"	""	""	"g.127668192G>A"	""	"pathogenic"	""
"0000469148"	"1"	"99"	"9"	"130432235"	"130432235"	"subst"	"0"	"00000"	"STXBP1_000023"	"g.130432235A>T"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127669956A>T"	""	"pathogenic"	""
"0000469149"	"20"	"95"	"9"	"0"	"0"	""	"0"	"00000"	"STXBP1_000012"	"g.?"	"1/106"	"{PMID:Deprez 2010:20876469}"	""	""	"deletion 23-35.4 Kb"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000469150"	"1"	"95"	"9"	"130434396"	"130434396"	"subst"	"0"	"00000"	"STXBP1_000009"	"g.130434396G>T"	"1/106"	"{PMID:Deprez 2010:20876469}"	""	""	"not in 500 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.127672117G>T"	""	"pathogenic"	""
"0000469151"	"1"	"99"	"9"	"130438178"	"130438178"	"del"	"0"	"00000"	"STXBP1_000025"	"g.130438178del"	""	"{PMID:Hamdan 2011:21364700}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127675899del"	""	"pathogenic"	""
"0000469152"	"1"	"99"	"9"	"130435469"	"130435478"	"dup"	"0"	"00000"	"STXBP1_000028"	"g.130435469_130435478dup"	""	"{PMID:Mignot 2011:21762454}"	""	"c.1039_1048dupCACCTGCACC"	""	"De novo"	""	""	"0"	""	""	"g.127673190_127673199dup"	""	"pathogenic"	""
"0000469153"	"1"	"95"	"9"	"130438134"	"130438134"	"subst"	"0"	"00000"	"STXBP1_000003"	"g.130438134C>T"	""	"{PMID:Hamdan 2009:19557857}, {PMID:Hamdan 2011:21376300}"	""	""	"not in 380 control chromosomes; no variants in STX1A, VAMP2, SNAP25, SYT1"	"De novo"	""	""	"0"	""	""	"g.127675855C>T"	""	"pathogenic"	""
"0000469154"	"1"	"99"	"9"	"130438189"	"130438189"	"subst"	"0"	"00000"	"STXBP1_000015"	"g.130438189G>A"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127675910G>A"	""	"pathogenic"	""
"0000469155"	"1"	"99"	"9"	"130438189"	"130438189"	"subst"	"0"	"00000"	"STXBP1_000015"	"g.130438189G>A"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127675910G>A"	""	"pathogenic"	""
"0000469156"	"1"	"99"	"9"	"130438189"	"130438189"	"subst"	"0"	"00000"	"STXBP1_000015"	"g.130438189G>A"	""	"{PMID:Saitsu 2010:20887364}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127675910G>A"	""	"pathogenic"	""
"0000469157"	"1"	"99"	"9"	"130438189"	"130438189"	"subst"	"0"	"00000"	"STXBP1_000015"	"g.130438189G>A"	""	"{PMID:Mignot 2011:21762454}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127675910G>A"	""	"pathogenic"	""
"0000469158"	"1"	"95"	"9"	"130439001"	"130439001"	"subst"	"0"	"00000"	"STXBP1_000004"	"g.130439001T>G"	""	"{PMID:Saitsu 2008:18469812}"	""	""	"not in 500 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.127676722T>G"	""	"pathogenic"	""
"0000469159"	"1"	"95"	"9"	"130440784"	"130440784"	"subst"	"0"	"00000"	"STXBP1_000005"	"g.130440784G>A"	"1/106"	"{PMID:Deprez 2010:20876469}"	""	""	"not in 500 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.127678505G>A"	""	"pathogenic"	""
"0000469160"	"1"	"99"	"9"	"130440789"	"130440789"	"subst"	"0"	"00000"	"STXBP1_000031"	"g.130440789C>T"	""	"{PMID:Milh 2011:21770924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127678510C>T"	""	"pathogenic"	""
"0000469161"	"1"	"95"	"9"	"130444768"	"130444768"	"subst"	"0"	"00000"	"STXBP1_000006"	"g.130444768G>A"	""	"{PMID:Saitsu 2008:18469812}"	""	""	"not in 500 control chromosomes; father not available for analysis"	"Unknown"	""	""	"0"	""	""	"g.127682489G>A"	""	"pathogenic"	""
"0000469162"	"1"	"99"	"9"	"130444791"	"130444791"	"subst"	"0"	"00000"	"STXBP1_000027"	"g.130444791T>C"	""	"{PMID:Otsuka 2010:21204804}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127682512T>C"	""	"pathogenic"	""
"0000469163"	"1"	"77"	"9"	"130446664"	"130446664"	"subst"	"0"	"00000"	"STXBP1_000032"	"g.130446664A>C"	""	"{PMID:Milh 2011:21770924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127684385A>C"	""	"likely pathogenic"	""
"0000497690"	"0"	"70"	"9"	"130416077"	"130416077"	"subst"	"0"	"01227"	"STXBP1_000112"	"g.130416077T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.127653798T>C"	""	"pathogenic"	""
"0000536296"	"0"	"90"	"9"	"130420730"	"130420732"	"del"	"0"	"02325"	"STXBP1_000113"	"g.130420730_130420732del"	""	""	""	"STXBP1(NM_003165.6):c.246_246+2delGGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127658451_127658453del"	""	"pathogenic"	""
"0000536298"	"0"	"10"	"9"	"130422395"	"130422395"	"subst"	"0.00384993"	"01943"	"STXBP1_000064"	"g.130422395C>T"	""	""	""	"STXBP1(NM_003165.3):c.325+8C>T, STXBP1(NM_003165.6):c.325+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127660116C>T"	""	"benign"	""
"0000536301"	"0"	"50"	"9"	"130425578"	"130425578"	"subst"	"0"	"02327"	"STXBP1_000115"	"g.130425578A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127663299A>C"	""	"VUS"	""
"0000536302"	"0"	"90"	"9"	"130425623"	"130425623"	"subst"	"0"	"01804"	"STXBP1_000068"	"g.130425623G>A"	""	""	""	"STXBP1(NM_003165.3):c.569G>A (p.(Arg190Gln)), STXBP1(NM_003165.6):c.569G>A (p.R190Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127663344G>A"	""	"pathogenic"	""
"0000536303"	"0"	"90"	"9"	"130425623"	"130425623"	"subst"	"0"	"02329"	"STXBP1_000068"	"g.130425623G>A"	""	""	""	"STXBP1(NM_003165.3):c.569G>A (p.(Arg190Gln)), STXBP1(NM_003165.6):c.569G>A (p.R190Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127663344G>A"	""	"pathogenic"	""
"0000536304"	"0"	"30"	"9"	"130427574"	"130427574"	"subst"	"0.000771574"	"01943"	"STXBP1_000116"	"g.130427574C>T"	""	""	""	"STXBP1(NM_003165.3):c.627C>T (p.L209=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127665295C>T"	""	"likely benign"	""
"0000536305"	"0"	"90"	"9"	"130435459"	"130435459"	"subst"	"0"	"02325"	"STXBP1_000117"	"g.130435459G>T"	""	""	""	"STXBP1(NM_003165.6):c.1030-1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127673180G>T"	""	"pathogenic"	""
"0000536306"	"0"	"90"	"9"	"130438188"	"130438188"	"subst"	"0"	"01943"	"STXBP1_000118"	"g.130438188C>T"	""	""	""	"STXBP1(NM_003165.3):c.1216C>T (p.R406C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127675909C>T"	""	"pathogenic"	""
"0000536307"	"0"	"50"	"9"	"130440811"	"130440811"	"subst"	"0"	"01943"	"STXBP1_000119"	"g.130440811G>A"	""	""	""	"STXBP1(NM_003165.3):c.1461G>A (p.E487=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127678532G>A"	""	"VUS"	""
"0000536310"	"0"	"90"	"9"	"130444768"	"130444768"	"subst"	"0"	"02327"	"STXBP1_000054"	"g.130444768G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127682489G>T"	""	"pathogenic"	""
"0000577988"	"0"	"90"	"9"	"130444781"	"130444781"	"del"	"0"	"01807"	"STXBP1_000120"	"g.130444781del"	""	""	""	"1644delT"	""	"Unknown"	""	""	"0"	""	""	"g.127682502del"	""	"pathogenic"	""
"0000604429"	"0"	"70"	"9"	"130425623"	"130425623"	"subst"	"0"	"03512"	"STXBP1_000068"	"g.130425623G>A"	""	"{PMID:Minardi 2020:32725632}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.127663344G>A"	""	"likely pathogenic"	""
"0000644174"	"0"	"90"	"9"	"130438148"	"130438148"	"del"	"0"	"01807"	"STXBP1_000121"	"g.130438148del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.127675869del"	""	"pathogenic"	""
"0000652596"	"1"	"50"	"9"	"130425623"	"130425623"	"subst"	"0"	"03575"	"STXBP1_000068"	"g.130425623G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs796053356}"	"Germline"	""	"rs796053356"	"0"	""	""	"g.127663344G>A"	""	"VUS"	""
"0000656223"	"0"	"90"	"9"	"130423471"	"130423471"	"subst"	"0"	"02327"	"STXBP1_000122"	"g.130423471C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.127661192C>T"	""	"pathogenic"	""
"0000660251"	"0"	"90"	"9"	"130427611"	"130427611"	"subst"	"0"	"01164"	"STXBP1_000123"	"g.130427611G>A"	""	""	""	""	"ACMG grading: PVS1,PM2,PM6,PP4,PP5; Yamamoto et al. 2016. Brain 38: 280"	"Germline"	""	""	"0"	""	""	"g.127665332G>A"	""	"pathogenic"	"ACMG"
"0000667553"	"0"	"90"	"9"	"130430439"	"130430439"	"subst"	"0"	"00006"	"STXBP1_000127"	"g.130430439G>T"	""	"{PMID:Helbig 2016:26795593}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127668160G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000667555"	"0"	"90"	"9"	"130430439"	"130430439"	"subst"	"0"	"00006"	"STXBP1_000128"	"g.130430439G>A"	""	"{PMID:Helbig 2016:26795593}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127668160G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000667557"	"0"	"90"	"9"	"130444768"	"130444768"	"del"	"0"	"00006"	"STXBP1_000131"	"g.130444768del"	""	"{PMID:Helbig 2016:26795593}"	""	"1631delG"	"likely de novo"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127682489del"	""	"pathogenic (dominant)"	"ACMG"
"0000667687"	"0"	"90"	"9"	"130438129"	"130438129"	"dup"	"0"	"00006"	"STXBP1_000129"	"g.130438129dup"	""	"{PMID:Carvill 2013:23708187}"	""	"c.1154delC (Met387Tyrfs*17)"	""	"De novo"	""	""	"0"	""	""	"g.127675850dup"	""	"pathogenic (dominant)"	""
"0000667688"	"0"	"70"	"9"	"130444767"	"130444767"	"subst"	"0"	"00006"	"STXBP1_000130"	"g.130444767G>T"	""	"{PMID:Carvill 2013:23708187}"	""	""	"mother unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127682488G>T"	""	"likely pathogenic (dominant)"	""
"0000667689"	"0"	"90"	"9"	"130416031"	"130416031"	"subst"	"0"	"00006"	"STXBP1_000124"	"g.130416031C>T"	""	"{PMID:Carvill 2013:23708187}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127653752C>T"	""	"pathogenic (dominant)"	""
"0000667690"	"0"	"90"	"9"	"130420722"	"130420722"	"subst"	"0"	"00006"	"STXBP1_000125"	"g.130420722T>C"	""	"{PMID:Carvill 2013:23708187}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127658443T>C"	""	"pathogenic (dominant)"	""
"0000667691"	"0"	"90"	"9"	"130425622"	"130425622"	"subst"	"0"	"00006"	"STXBP1_000126"	"g.130425622C>T"	""	"{PMID:Carvill 2013:23708187}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127663343C>T"	""	"pathogenic (dominant)"	""
"0000667692"	"0"	"90"	"9"	"130435490"	"130435490"	"subst"	"0"	"00006"	"STXBP1_000057"	"g.130435490T>C"	""	"{PMID:Carvill 2013:23708187}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127673211T>C"	""	"pathogenic (dominant)"	""
"0000667693"	"0"	"90"	"9"	"130453059"	"130453059"	"subst"	"0"	"00006"	"STXBP1_000132"	"g.130453059A>G"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001032221.3:c.1708A>G (Thr570Ala)"	""	"De novo"	""	""	"0"	""	""	"g.127690780A>G"	""	"pathogenic (dominant)"	""
"0000673707"	"0"	"90"	"9"	"130430438"	"130430438"	"subst"	"0"	"00006"	"STXBP1_000096"	"g.130430438C>T"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PS1, PM2, PM5, PP2, PP3; mother not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127668159C>T"	""	"pathogenic"	"ACMG"
"0000673708"	"0"	"90"	"9"	"130440737"	"130440737"	"subst"	"0"	"00006"	"STXBP1_000134"	"g.130440737G>T"	""	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2019:31077350}"	""	""	"ACMG PVS1, PM2, PM6"	"De novo"	""	""	"0"	""	""	"g.127678458G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000673709"	"0"	"70"	"9"	"130428580"	"130428580"	"subst"	"0"	"00006"	"STXBP1_000133"	"g.130428580G>A"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PS1, PM2, PM6"	"De novo"	""	""	"0"	""	""	"g.127666301G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000678525"	"0"	"90"	"9"	"130435462"	"130435462"	"subst"	"0"	"02327"	"STXBP1_000135"	"g.130435462C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000678526"	"0"	"90"	"9"	"130438102"	"130438103"	"del"	"0"	"02329"	"STXBP1_000136"	"g.130438102_130438103del"	""	""	""	"STXBP1(NM_001032221.6):c.1130_1131delAT (p.D377Gfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000678527"	"0"	"50"	"9"	"130442488"	"130442488"	"subst"	"4.06197E-6"	"02327"	"STXBP1_000137"	"g.130442488G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000683392"	"0"	"70"	"9"	"130444788"	"130444788"	"subst"	"0"	"00006"	"STXBP1_000138"	"g.130444788C>G"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127682509C>G"	""	"likely pathogenic (dominant)"	""
"0000690407"	"0"	"50"	"9"	"130438119"	"130438119"	"subst"	"0"	"02325"	"STXBP1_000139"	"g.130438119A>G"	""	""	""	"STXBP1(NM_003165.6):c.1147A>G (p.I383V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722268"	"0"	"30"	"9"	"130422343"	"130422343"	"subst"	"0.000540062"	"02325"	"STXBP1_000140"	"g.130422343C>T"	""	""	""	"STXBP1(NM_003165.6):c.281C>T (p.P94L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722269"	"0"	"90"	"9"	"130423420"	"130423420"	"dup"	"0"	"02329"	"STXBP1_000114"	"g.130423420dup"	""	""	""	"STXBP1(NM_003165.6):c.365dupG (p.A123Sfs*19)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000722270"	"0"	"50"	"9"	"130423449"	"130423449"	"subst"	"0"	"02325"	"STXBP1_000141"	"g.130423449G>A"	""	""	""	"STXBP1(NM_003165.6):c.394G>A (p.E132K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722271"	"0"	"70"	"9"	"130428515"	"130428515"	"subst"	"0"	"02329"	"STXBP1_000142"	"g.130428515A>G"	""	""	""	"STXBP1(NM_003165.6):c.734A>G (p.H245R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000722272"	"0"	"70"	"9"	"130438947"	"130438947"	"subst"	"0"	"02327"	"STXBP1_000143"	"g.130438947A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000787059"	"0"	"70"	"9"	"130430406"	"130430410"	"del"	"0"	"00006"	"STXBP1_000145"	"g.130430406_130430410del"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.841_845delCTGGA"	""	"Germline"	""	""	"0"	""	""	"g.127668127_127668131del"	""	"likely pathogenic"	""
"0000787060"	"0"	"70"	"9"	"130430406"	"130430410"	"del"	"0"	"00006"	"STXBP1_000145"	"g.130430406_130430410del"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.841_845delCTGGA"	""	"Germline"	""	""	"0"	""	""	"g.127668127_127668131del"	""	"likely pathogenic"	""
"0000787061"	"0"	"90"	"9"	"130440789"	"130440789"	"subst"	"0"	"00006"	"STXBP1_000031"	"g.130440789C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.127678510C>T"	""	"pathogenic"	""
"0000788914"	"0"	"70"	"9"	"130430358"	"130430358"	"subst"	"0"	"00006"	"STXBP1_000146"	"g.130430358G>A"	""	"{PMID:Srivastava 2014:25131622}"	""	"IVS9-1G>A"	""	"De novo"	""	""	"0"	""	""	"g.127668079G>A"	""	"likely pathogenic"	""
"0000788923"	"0"	"70"	"9"	"130444744"	"130444744"	"subst"	"4.06177E-6"	"00006"	"STXBP1_000147"	"g.130444744G>A"	""	"{PMID:Srivastava 2014:25131622}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127682465G>A"	""	"likely pathogenic"	""
"0000789904"	"0"	"90"	"9"	"130438189"	"130438189"	"subst"	"0"	"01164"	"STXBP1_000015"	"g.130438189G>A"	""	"PMID: 20887364, 21762454, 23934111, 25714420, 26514728"	""	""	"ACMG: PS2, PS4, PM2_SUP, PP3"	"Germline/De novo (untested)"	"?"	""	""	""	""	""	"VCV000279904.12"	"pathogenic (dominant)"	"ACMG"
"0000791280"	"0"	"70"	"9"	"130432189"	"130432189"	"del"	"0"	"01807"	"STXBP1_000148"	"g.130432189del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.127669910del"	""	"likely pathogenic"	""
"0000803877"	"0"	"90"	"9"	"130442474"	"130442487"	"del"	"0"	"02329"	"STXBP1_000149"	"g.130442474_130442487del"	""	""	""	"STXBP1(NM_001032221.6):c.1500_1513delTTATATCTCTACCC (p.Y501Ffs*19)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000803878"	"0"	"30"	"9"	"130444685"	"130444685"	"subst"	"0.00136241"	"01943"	"STXBP1_000086"	"g.130444685C>T"	""	""	""	"STXBP1(NM_003165.3):c.1548C>T (p.S516=), STXBP1(NM_003165.6):c.1548C>T (p.S516=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803879"	"0"	"30"	"9"	"130444846"	"130444846"	"subst"	"8.14021E-6"	"01943"	"STXBP1_000150"	"g.130444846G>C"	""	""	""	"STXBP1(NM_003165.3):c.1702+7G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861395"	"0"	"10"	"9"	"130415941"	"130415941"	"subst"	"0"	"02326"	"STXBP1_000151"	"g.130415941C>T"	""	""	""	"STXBP1(NM_001374308.2):c.46-53C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000861396"	"0"	"90"	"9"	"130423440"	"130423440"	"del"	"0"	"01943"	"STXBP1_000152"	"g.130423440del"	""	""	""	"STXBP1(NM_003165.3):c.385delA (p.T129Lfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000861397"	"0"	"90"	"9"	"130438189"	"130438189"	"subst"	"0"	"02329"	"STXBP1_000015"	"g.130438189G>A"	""	""	""	"STXBP1(NM_001032221.6):c.1217G>A (p.R406H), STXBP1(NM_003165.6):c.1217G>A (p.R406H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000876716"	"0"	"90"	"9"	"130430439"	"130430439"	"subst"	"0"	"01164"	"STXBP1_000128"	"g.130430439G>A"	""	"PMID: 19804848, 26795593, 30654231, 24781210, 26865513, 28628100, 29778030, 27779742, 29314583, 29896790, 29655203, 31171384, 31780880, 27905812, 26993267, 31105003, 32112430:"	""	""	"ACMG: PS2, PS3_MOD, PS4_MOD, PM2_SUP, PP2, PP3"	"Germline/De novo (untested)"	"-"	""	""	""	""	"g.127668160G>A"	"VCV000207424.9"	"pathogenic (dominant)"	"ACMG"
"0000881254"	"0"	"70"	"9"	"130434359"	"130434359"	"del"	"0"	"02300"	"STXBP1_000153"	"g.130434359del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.993delG"	"ACMG PVS1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.127672080del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000888627"	"0"	"70"	"9"	"130425523"	"130425523"	"subst"	"0"	"02327"	"STXBP1_000154"	"g.130425523T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000888628"	"0"	"90"	"9"	"130444788"	"130444788"	"subst"	"0"	"02326"	"STXBP1_000103"	"g.130444788C>T"	""	""	""	"STXBP1(NM_003165.6):c.1651C>T (p.R551C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000908548"	"0"	"90"	"9"	"130420671"	"130420671"	"subst"	"0"	"00006"	"STXBP1_000155"	"g.130420671A>T"	""	"{PMID:Zhou 2018:29314583}"	""	"K63X"	""	"De novo"	""	""	"0"	""	""	"g.127658392A>T"	""	"pathogenic"	"ACMG"
"0000908549"	"0"	"90"	"9"	"130430439"	"130430439"	"subst"	"0"	"00006"	"STXBP1_000128"	"g.130430439G>A"	""	"{PMID:Zhou 2018:29314583}"	""	"R292H"	""	"De novo"	""	""	"0"	""	""	"g.127668160G>A"	""	"pathogenic"	"ACMG"
"0000908550"	"0"	"90"	"9"	"130444768"	"130444768"	"subst"	"0"	"00006"	"STXBP1_000054"	"g.130444768G>T"	""	"{PMID:Zhou 2018:29314583}"	""	"G544V"	""	"De novo"	""	""	"0"	""	""	"g.127682489G>T"	""	"pathogenic"	"ACMG"
"0000908905"	"0"	"90"	"9"	"130438221"	"130438221"	"subst"	"0"	"00006"	"STXBP1_000156"	"g.130438221G>C"	""	"{PMID:Bournazos 2022:34906502}"	""	""	"exon skipping, intron retention, cryptic splice donor"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127675942G>C"	""	"pathogenic (dominant)"	""
"0000922686"	"0"	"90"	"9"	"130440804"	"130440804"	"subst"	"0"	"00006"	"STXBP1_000157"	"g.130440804T>A"	""	"{PMID:Gostain 2020:32960281}"	""	""	"mosaic in blood"	"Somatic"	""	""	"0"	""	""	"g.127678525T>A"	""	"pathogenic (dominant)"	""
"0000929535"	"0"	"70"	"9"	"130425484"	"130425484"	"subst"	"0"	"02327"	"STXBP1_000158"	"g.130425484G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000936024"	"0"	"90"	"9"	"130430453"	"130430453"	"subst"	"0"	"00006"	"STXBP1_000159"	"g.130430453G>A"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.127668174G>A"	""	"pathogenic (dominant)"	""
"0000959732"	"0"	"90"	"9"	"130438123"	"130438123"	"dup"	"0"	"00006"	"STXBP1_000160"	"g.130438123dup"	""	"{PMID:Ostrander 2018:30109124}"	""	""	"ACMG PVS1, PS2, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.127675844dup"	""	"pathogenic (dominant)"	"ACMG"
"0000978399"	"0"	"50"	"9"	"130440749"	"130440749"	"subst"	"0"	"01804"	"STXBP1_000161"	"g.130440749C>T"	""	""	""	"STXBP1(NM_001032221.6):c.1399C>T (p.(Arg467Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000985298"	"0"	"70"	"9"	"130430465"	"130430465"	"subst"	"0"	"03544"	"STXBP1_000162"	"g.130430465C>T"	""	""	""	""	""	"De novo"	"-"	""	""	""	""	"g.127668186C>T"	"{CV:4086070}"	"likely pathogenic"	"ACMG"
"0000997494"	"0"	"50"	"9"	"130438143"	"130438143"	"subst"	"4.06385E-6"	"01804"	"STXBP1_000163"	"g.130438143G>A"	""	""	""	"STXBP1(NM_001032221.3):c.1171G>A (p.(Val391Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001011937"	"0"	"90"	"9"	"130435490"	"130435490"	"subst"	"0"	"00006"	"STXBP1_000057"	"g.130435490T>C"	""	"{PMID:Salinas 2020:33084218}"	""	"NM_001032221:c.1060T>C"	""	"Unknown"	""	""	"0"	""	""	"g.127673211T>C"	"VCV000280041.1"	"pathogenic"	""
"0001011961"	"0"	"90"	"9"	"130438968"	"130438968"	"subst"	"0"	"00006"	"STXBP1_000164"	"g.130438968T>A"	""	"{PMID:Salinas 2020:33084218}"	""	"NM_001032221:c.1295T>A"	""	"Unknown"	""	""	"0"	""	""	"g.127676689T>A"	"SUB7803007"	"pathogenic"	""
"0001018822"	"0"	"70"	"9"	"130425604"	"130425606"	"del"	"0"	"03544"	"STXBP1_000165"	"g.130425604_130425606del"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.127663325_127663327del"	"{CV:3387775}"	"likely pathogenic"	"ACMG"
"0001030124"	"0"	"70"	"9"	"130430358"	"130430358"	"subst"	"0"	"01164"	"STXBP1_000166"	"g.130430358G>C"	""	""	""	""	"PVS1_STR, PS2_SUP, PM2_SUP; confirmed de novo, in-frame skip of Ex10 predicted"	"De novo"	"-"	""	""	""	""	"g.127668079G>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0001030152"	"0"	"50"	"9"	"130428579"	"130428582"	"del"	"0"	"01164"	"STXBP1_000167"	"g.130428579_130428582del"	""	""	""	""	"ACMG: PS1_MOD, PS4_SUP, PM2_SUP, PP3; SpliceAI predicts out-of-frame skip Ex9, variant c.794+5G>A with similar predicted effect known pathogenic"	"Germline"	"?"	""	""	""	""	"g.127666300_127666303del"	"VCV000854819.7"	"VUS (!)"	"ACMG"
"0001037185"	"0"	"30"	"9"	"130420194"	"130420194"	"subst"	"0"	"01804"	"STXBP1_000168"	"g.130420194G>A"	""	""	""	"STXBP1(NM_001032221.6):c.170-460G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037186"	"0"	"50"	"9"	"130423390"	"130423390"	"subst"	"0"	"01804"	"STXBP1_000169"	"g.130423390A>G"	""	""	""	"STXBP1(NM_001032221.6):c.335A>G (p.(Asp112Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037187"	"0"	"30"	"9"	"130436468"	"130436468"	"subst"	"0"	"01804"	"STXBP1_000170"	"g.130436468C>T"	""	""	""	"STXBP1(NM_001032221.6):c.1110+928C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037188"	"0"	"30"	"9"	"130439024"	"130439024"	"subst"	"0.000176114"	"01804"	"STXBP1_000171"	"g.130439024G>A"	""	""	""	"STXBP1(NM_001032221.6):c.1351G>A (p.(Val451Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001049039"	"0"	"90"	"9"	"130438189"	"130438189"	"subst"	"0"	"00006"	"STXBP1_000015"	"g.130438189G>A"	""	"{PMID:Soden 2014:25473036}"	""	"ref?:c.1217G>A"	""	"De novo"	""	""	"0"	""	""	"g.127675910G>A"	""	"pathogenic (dominant)"	""
"0001049051"	"0"	"90"	"9"	"130420652"	"130420652"	"subst"	"0"	"00006"	"STXBP1_000172"	"g.130420652A>G"	""	"{PMID:Soden 2014:25473036}"	""	"ref?:c.170-2A>G"	""	"De novo"	""	""	"0"	""	""	"g.127658373A>G"	""	"pathogenic (dominant)"	""
"0001053348"	"0"	"70"	"9"	"130422389"	"130422389"	"subst"	"0"	"01804"	"STXBP1_000173"	"g.130422389T>C"	""	""	""	"STXBP1(NM_001032221.6):c.325+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001053349"	"0"	"30"	"9"	"130440363"	"130440363"	"subst"	"0"	"01804"	"STXBP1_000174"	"g.130440363C>T"	""	""	""	"STXBP1(NM_001032221.6):c.1360-347C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001053350"	"0"	"70"	"9"	"130444799"	"130444799"	"subst"	"0"	"01804"	"STXBP1_000088"	"g.130444799C>A"	""	""	""	"STXBP1(NM_001032221.6):c.1662C>A (p.(Tyr554*)), STXBP1(NM_003165.6):c.1662C>A (p.Y554*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001059223"	"0"	"90"	"9"	"130438188"	"130438188"	"subst"	"0"	"00006"	"STXBP1_000118"	"g.130438188C>T"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127675909C>T"	""	"pathogenic"	""
"0001059224"	"0"	"90"	"9"	"130444744"	"130444744"	"subst"	"4.06177E-6"	"00006"	"STXBP1_000147"	"g.130444744G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.127682465G>A"	""	"pathogenic (recessive)"	""
"0001059225"	"0"	"90"	"9"	"130430358"	"130430358"	"subst"	"0"	"00006"	"STXBP1_000146"	"g.130430358G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127668079G>A"	""	"pathogenic"	""
"0001059226"	"0"	"90"	"9"	"130430439"	"130430439"	"subst"	"0"	"00006"	"STXBP1_000128"	"g.130430439G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127668160G>A"	""	"pathogenic"	""
"0001059227"	"0"	"90"	"9"	"130435491"	"130435491"	"subst"	"0"	"00006"	"STXBP1_000176"	"g.130435491G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127673212G>A"	""	"pathogenic"	""
"0001059228"	"0"	"90"	"9"	"130430461"	"130430462"	"del"	"0"	"00006"	"STXBP1_000175"	"g.130430461_130430462del"	""	"{PMID:Retterer 2016:26633542}"	""	"897_898delGT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127668182_127668183del"	""	"pathogenic"	""
"0001059229"	"0"	"90"	"9"	"130430439"	"130430439"	"subst"	"0"	"00006"	"STXBP1_000128"	"g.130430439G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127668160G>A"	""	"pathogenic"	""
"0001059230"	"0"	"90"	"9"	"130425623"	"130425623"	"subst"	"0"	"00006"	"STXBP1_000068"	"g.130425623G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127663344G>A"	""	"pathogenic"	""
"0001059231"	"0"	"70"	"9"	"130444751"	"130444753"	"del"	"0"	"00006"	"STXBP1_000177"	"g.130444751_130444753del"	""	"{PMID:Retterer 2016:26633542}"	""	"1614_1616delCAT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.127682472_127682474del"	""	"likely pathogenic"	""


## 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 STXBP1
## Count = 313
"{{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}}"
"0000064399"	"00023862"	"50"	"578"	"11"	"578"	"11"	"c.578+11G>T"	"r.(=)"	"p.(=)"	""
"0000064400"	"00023862"	"10"	"663"	"17"	"663"	"17"	"c.663+17C>T"	"r.(=)"	"p.(=)"	""
"0000064401"	"00023862"	"50"	"902"	"7"	"902"	"7"	"c.902+7G>C"	"r.(=)"	"p.(=)"	""
"0000064402"	"00023862"	"50"	"284"	"0"	"284"	"0"	"c.284C>T"	"r.(?)"	"p.(Pro95Leu)"	""
"0000064403"	"00023862"	"50"	"1713"	"0"	"1713"	"0"	"c.1713C>T"	"r.(=)"	"p.(=)"	""
"0000064404"	"00023862"	"90"	"1110"	"0"	"1110"	"0"	"c.1110G>C"	"r.(?)"	"p.(Gln370His)"	""
"0000064405"	"00023862"	"50"	"247"	"-1"	"247"	"-1"	"c.247-1del"	"r.spl?"	"p.?"	""
"0000064406"	"00023862"	"50"	"38"	"-3"	"38"	"-3"	"c.38-3T>C"	"r.spl?"	"p.?"	""
"0000064407"	"00023862"	"50"	"902"	"32"	"902"	"32"	"c.902+32G>C"	"r.(=)"	"p.(=)"	""
"0000064408"	"00023862"	"50"	"1000"	"0"	"1000"	"0"	"c.1000A>T"	"r.(?)"	"p.(Met334Leu)"	""
"0000079312"	"00023862"	"00"	"147"	"0"	"148"	"0"	"c.147_148delinsCA"	"r.(=)"	"p.(=)"	""
"0000079312"	"00025520"	"90"	"147"	"0"	"148"	"0"	"c.147_148delinsCA"	"r.(=)"	"p.(=)"	""
"0000079338"	"00023862"	"00"	"704"	"0"	"704"	"0"	"c.704G>A"	"r.(?)"	"p.(Arg235Gln)"	""
"0000079338"	"00025520"	"90"	"704"	"0"	"704"	"0"	"c.704G>A"	"r.(?)"	"p.(Arg235Gln)"	""
"0000079461"	"00023862"	"00"	"436"	"0"	"438"	"0"	"c.436_438delinsT"	"r.(?)"	"p.(Ser146Phefs*5)"	""
"0000079461"	"00025520"	"90"	"436"	"0"	"438"	"0"	"c.436_438delinsT"	"r.(?)"	"p.(Ser146Phefs*5)"	""
"0000079499"	"00023862"	"00"	"778"	"0"	"778"	"0"	"c.778G>T"	"r.(?)"	"p.(Glu260*)"	""
"0000079499"	"00025520"	"90"	"778"	"0"	"778"	"0"	"c.778G>T"	"r.(?)"	"p.(Glu260*)"	""
"0000079525"	"00023862"	"00"	"1631"	"0"	"1631"	"0"	"c.1631G>T"	"r.(?)"	"p.(Gly544Val)"	""
"0000079525"	"00025520"	"90"	"1631"	"0"	"1631"	"0"	"c.1631G>T"	"r.(?)"	"p.(Gly544Val)"	""
"0000079615"	"00023862"	"00"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Arg367*)"	""
"0000079615"	"00025520"	"90"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Arg367*)"	""
"0000130211"	"00023862"	"90"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235*)"	""
"0000130211"	"00025520"	"90"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235*)"	""
"0000130224"	"00023862"	"90"	"1060"	"0"	"1060"	"0"	"c.1060T>C"	"r.(?)"	"p.(Cys354Arg)"	""
"0000130224"	"00025520"	"90"	"1060"	"0"	"1060"	"0"	"c.1060T>C"	"r.(?)"	"p.(Cys354Arg)"	""
"0000188461"	"00023862"	"00"	"853"	"0"	"853"	"0"	"c.853G>A"	"r.(?)"	"p.(Asp285Asn)"	""
"0000188461"	"00025520"	"50"	"853"	"0"	"853"	"0"	"c.853G>A"	"r.(?)"	"p.(Asp285Asn)"	""
"0000223232"	"00023862"	"50"	"1359"	"9"	"1359"	"9"	"c.1359+9C>T"	"r.(=)"	"p.(=)"	""
"0000237905"	"00023862"	"90"	"785"	"0"	"787"	"0"	"c.785_787delinsCC"	"r.(?)"	"p.(Asp262Alafs*15)"	"9"
"0000248087"	"00023862"	"30"	"247"	"-8"	"247"	"-8"	"c.247-8A>G"	"r.(=)"	"p.(=)"	""
"0000248087"	"00025520"	"30"	"247"	"-8"	"247"	"-8"	"c.247-8A>G"	"r.(=)"	"p.(=)"	""
"0000250778"	"00023862"	"30"	"247"	"-8"	"247"	"-8"	"c.247-8A>G"	"r.(=)"	"p.(=)"	""
"0000250778"	"00025520"	"30"	"247"	"-8"	"247"	"-8"	"c.247-8A>G"	"r.(=)"	"p.(=)"	""
"0000250818"	"00023862"	"30"	"326"	"-8"	"326"	"-8"	"c.326-8A>G"	"r.(=)"	"p.(=)"	""
"0000250818"	"00025520"	"30"	"326"	"-8"	"326"	"-8"	"c.326-8A>G"	"r.(=)"	"p.(=)"	""
"0000251437"	"00023862"	"10"	"246"	"12"	"246"	"12"	"c.246+12A>G"	"r.(=)"	"p.(=)"	""
"0000251437"	"00025520"	"10"	"246"	"12"	"246"	"12"	"c.246+12A>G"	"r.(=)"	"p.(=)"	""
"0000252372"	"00023862"	"70"	"785"	"0"	"785"	"0"	"c.785A>T"	"r.(?)"	"p.(Asp262Val)"	""
"0000252372"	"00025520"	"70"	"785"	"0"	"785"	"0"	"c.785A>T"	"r.(?)"	"p.(Asp262Val)"	""
"0000252425"	"00023862"	"70"	"1109"	"0"	"1109"	"0"	"c.1109A>C"	"r.(?)"	"p.(Gln370Pro)"	""
"0000252425"	"00025520"	"70"	"1109"	"0"	"1109"	"0"	"c.1109A>C"	"r.(?)"	"p.(Gln370Pro)"	""
"0000252618"	"00023862"	"90"	"579"	"-2"	"579"	"-2"	"c.579-2A>G"	"r.spl?"	"p.?"	""
"0000252618"	"00025520"	"90"	"579"	"-2"	"579"	"-2"	"c.579-2A>G"	"r.spl?"	"p.?"	""
"0000253997"	"00023862"	"30"	"247"	"-8"	"247"	"-8"	"c.247-8A>G"	"r.(=)"	"p.(=)"	""
"0000253997"	"00025520"	"30"	"247"	"-8"	"247"	"-8"	"c.247-8A>G"	"r.(=)"	"p.(=)"	""
"0000254037"	"00023862"	"30"	"326"	"-8"	"326"	"-8"	"c.326-8A>G"	"r.(=)"	"p.(=)"	""
"0000254037"	"00025520"	"30"	"326"	"-8"	"326"	"-8"	"c.326-8A>G"	"r.(=)"	"p.(=)"	""
"0000311602"	"00023862"	"30"	"1250"	"-20"	"1250"	"-20"	"c.1250-20C>T"	"r.(=)"	"p.(=)"	""
"0000311602"	"00025520"	"30"	"1250"	"-20"	"1250"	"-20"	"c.1250-20C>T"	"r.(=)"	"p.(=)"	""
"0000311603"	"00023862"	"30"	"1548"	"0"	"1548"	"0"	"c.1548C>T"	"r.(?)"	"p.(Ser516=)"	""
"0000311603"	"00025520"	"30"	"1548"	"0"	"1548"	"0"	"c.1548C>T"	"r.(?)"	"p.(Ser516=)"	""
"0000311604"	"00023862"	"30"	"1702"	"10"	"1702"	"10"	"c.1702+10C>T"	"r.(=)"	"p.(=)"	""
"0000311604"	"00025520"	"30"	"1702"	"10"	"1702"	"10"	"c.1702+10C>T"	"r.(=)"	"p.(=)"	""
"0000311605"	"00023862"	"30"	"325"	"8"	"325"	"8"	"c.325+8C>T"	"r.(=)"	"p.(=)"	""
"0000311605"	"00025520"	"30"	"325"	"8"	"325"	"8"	"c.325+8C>T"	"r.(=)"	"p.(=)"	""
"0000311606"	"00023862"	"90"	"578"	"1"	"578"	"1"	"c.578+1G>A"	"r.spl?"	"p.?"	""
"0000311606"	"00025520"	"90"	"578"	"1"	"578"	"1"	"c.578+1G>A"	"r.spl?"	"p.?"	""
"0000311607"	"00023862"	"30"	"902"	"10"	"902"	"10"	"c.902+10C>T"	"r.(=)"	"p.(=)"	""
"0000311607"	"00025520"	"30"	"902"	"10"	"902"	"10"	"c.902+10C>T"	"r.(=)"	"p.(=)"	""
"0000313205"	"00023862"	"70"	"721"	"0"	"721"	"0"	"c.721T>C"	"r.(?)"	"p.(Ser241Pro)"	""
"0000313205"	"00025520"	"70"	"721"	"0"	"721"	"0"	"c.721T>C"	"r.(?)"	"p.(Ser241Pro)"	""
"0000314190"	"00023862"	"10"	"1030"	"-237"	"1030"	"-237"	"c.1030-237T>A"	"r.(=)"	"p.(=)"	""
"0000314190"	"00025520"	"10"	"1030"	"-237"	"1030"	"-237"	"c.1030-237T>A"	"r.(=)"	"p.(=)"	""
"0000314191"	"00023862"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000314191"	"00025520"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000314192"	"00023862"	"30"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Gly447Ser)"	""
"0000314192"	"00025520"	"30"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Gly447Ser)"	""
"0000314193"	"00023862"	"90"	"1360"	"-1"	"1360"	"-1"	"c.1360-1G>T"	"r.spl?"	"p.?"	""
"0000314193"	"00025520"	"90"	"1360"	"-1"	"1360"	"-1"	"c.1360-1G>T"	"r.spl?"	"p.?"	""
"0000314194"	"00023862"	"10"	"1547"	"59"	"1547"	"59"	"c.1547+59C>G"	"r.(=)"	"p.(=)"	""
"0000314194"	"00025520"	"10"	"1547"	"59"	"1547"	"59"	"c.1547+59C>G"	"r.(=)"	"p.(=)"	""
"0000314195"	"00023862"	"10"	"1547"	"63"	"1547"	"63"	"c.1547+63G>A"	"r.(=)"	"p.(=)"	""
"0000314195"	"00025520"	"10"	"1547"	"63"	"1547"	"63"	"c.1547+63G>A"	"r.(=)"	"p.(=)"	""
"0000314196"	"00023862"	"30"	"1548"	"-11"	"1548"	"-8"	"c.1548-11_1548-8del"	"r.(=)"	"p.(=)"	""
"0000314196"	"00025520"	"30"	"1548"	"-11"	"1548"	"-8"	"c.1548-11_1548-8del"	"r.(=)"	"p.(=)"	""
"0000314197"	"00023862"	"30"	"1548"	"0"	"1548"	"0"	"c.1548C>T"	"r.(?)"	"p.(Ser516=)"	""
"0000314197"	"00025520"	"30"	"1548"	"0"	"1548"	"0"	"c.1548C>T"	"r.(?)"	"p.(Ser516=)"	""
"0000314198"	"00023862"	"70"	"1662"	"0"	"1662"	"0"	"c.1662C>A"	"r.(?)"	"p.(Tyr554Ter)"	""
"0000314198"	"00025520"	"70"	"1662"	"0"	"1662"	"0"	"c.1662C>A"	"r.(?)"	"p.(Tyr554Ter)"	""
"0000314199"	"00023862"	"10"	"1702"	"10"	"1702"	"10"	"c.1702+10C>T"	"r.(=)"	"p.(=)"	""
"0000314199"	"00025520"	"10"	"1702"	"10"	"1702"	"10"	"c.1702+10C>T"	"r.(=)"	"p.(=)"	""
"0000314200"	"00023862"	"30"	"325"	"8"	"325"	"8"	"c.325+8C>T"	"r.(=)"	"p.(=)"	""
"0000314200"	"00025520"	"30"	"325"	"8"	"325"	"8"	"c.325+8C>T"	"r.(=)"	"p.(=)"	""
"0000314201"	"00023862"	"10"	"38"	"-16"	"38"	"-15"	"c.38-16_38-15del"	"r.(=)"	"p.(=)"	""
"0000314201"	"00025520"	"10"	"38"	"-16"	"38"	"-15"	"c.38-16_38-15del"	"r.(=)"	"p.(=)"	""
"0000314202"	"00023862"	"30"	"38"	"-3"	"38"	"-3"	"c.38-3T>C"	"r.spl?"	"p.?"	""
"0000314202"	"00025520"	"30"	"38"	"-3"	"38"	"-3"	"c.38-3T>C"	"r.spl?"	"p.?"	""
"0000314203"	"00023862"	"70"	"558"	"0"	"558"	"0"	"c.558C>A"	"r.(?)"	"p.(Tyr186Ter)"	""
"0000314203"	"00025520"	"70"	"558"	"0"	"558"	"0"	"c.558C>A"	"r.(?)"	"p.(Tyr186Ter)"	""
"0000314204"	"00023862"	"70"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000314204"	"00025520"	"70"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000314205"	"00023862"	"30"	"663"	"17"	"663"	"17"	"c.663+17C>T"	"r.(=)"	"p.(=)"	""
"0000314205"	"00025520"	"30"	"663"	"17"	"663"	"17"	"c.663+17C>T"	"r.(=)"	"p.(=)"	""
"0000314206"	"00023862"	"90"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235Ter)"	""
"0000314206"	"00025520"	"90"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235Ter)"	""
"0000314207"	"00023862"	"70"	"860"	"0"	"860"	"0"	"c.860T>C"	"r.(?)"	"p.(Leu287Pro)"	""
"0000314207"	"00025520"	"70"	"860"	"0"	"860"	"0"	"c.860T>C"	"r.(?)"	"p.(Leu287Pro)"	""
"0000314208"	"00023862"	"30"	"902"	"10"	"902"	"10"	"c.902+10C>T"	"r.(=)"	"p.(=)"	""
"0000314208"	"00025520"	"30"	"902"	"10"	"902"	"10"	"c.902+10C>T"	"r.(=)"	"p.(=)"	""
"0000315903"	"00023862"	"30"	"1662"	"0"	"1662"	"0"	"c.1662C>T"	"r.(?)"	"p.(Tyr554=)"	""
"0000315903"	"00025520"	"30"	"1662"	"0"	"1662"	"0"	"c.1662C>T"	"r.(?)"	"p.(Tyr554=)"	""
"0000315904"	"00023862"	"90"	"721"	"0"	"721"	"0"	"c.721del"	"r.(?)"	"p.(Ser241ProfsTer7)"	""
"0000315904"	"00025520"	"90"	"721"	"0"	"721"	"0"	"c.721del"	"r.(?)"	"p.(Ser241ProfsTer7)"	""
"0000332793"	"00023862"	"50"	"902"	"7"	"902"	"7"	"c.902+7G>C"	"r.(=)"	"p.(=)"	""
"0000332793"	"00025520"	"50"	"902"	"7"	"902"	"7"	"c.902+7G>C"	"r.(=)"	"p.(=)"	""
"0000337138"	"00023862"	"90"	"579"	"-2"	"579"	"-2"	"c.579-2A>G"	"r.spl?"	"p.?"	""
"0000337138"	"00025520"	"90"	"579"	"-2"	"579"	"-2"	"c.579-2A>G"	"r.spl?"	"p.?"	""
"0000338965"	"00023862"	"90"	"1111"	"-1"	"1111"	"-1"	"c.1111-1G>A"	"r.spl?"	"p.?"	""
"0000338965"	"00025520"	"90"	"1111"	"-1"	"1111"	"-1"	"c.1111-1G>A"	"r.spl?"	"p.?"	""
"0000341796"	"00023862"	"90"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Ter)"	""
"0000341796"	"00025520"	"90"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Arg122Ter)"	""
"0000342352"	"00023862"	"90"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235Ter)"	""
"0000342352"	"00025520"	"90"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235Ter)"	""
"0000342556"	"00023862"	"90"	"874"	"0"	"874"	"0"	"c.874C>T"	"r.(?)"	"p.(Arg292Cys)"	""
"0000342556"	"00025520"	"90"	"874"	"0"	"874"	"0"	"c.874C>T"	"r.(?)"	"p.(Arg292Cys)"	""
"0000342788"	"00023862"	"90"	"1162"	"0"	"1162"	"0"	"c.1162C>T"	"r.(?)"	"p.(Arg388Ter)"	""
"0000342788"	"00025520"	"90"	"1162"	"0"	"1162"	"0"	"c.1162C>T"	"r.(?)"	"p.(Arg388Ter)"	""
"0000343092"	"00023862"	"90"	"1651"	"0"	"1651"	"0"	"c.1651C>T"	"r.(?)"	"p.(Arg551Cys)"	""
"0000343092"	"00025520"	"90"	"1651"	"0"	"1651"	"0"	"c.1651C>T"	"r.(?)"	"p.(Arg551Cys)"	""
"0000343094"	"00023862"	"90"	"1652"	"0"	"1652"	"0"	"c.1652G>A"	"r.(?)"	"p.(Arg551His)"	""
"0000343094"	"00025520"	"90"	"1652"	"0"	"1652"	"0"	"c.1652G>A"	"r.(?)"	"p.(Arg551His)"	""
"0000344098"	"00023862"	"50"	"1306"	"0"	"1306"	"0"	"c.1306G>A"	"r.(?)"	"p.(Asp436Asn)"	""
"0000344098"	"00025520"	"50"	"1306"	"0"	"1306"	"0"	"c.1306G>A"	"r.(?)"	"p.(Asp436Asn)"	""
"0000344797"	"00023862"	"90"	"1108"	"0"	"1108"	"0"	"c.1108C>T"	"r.(?)"	"p.(Gln370Ter)"	""
"0000344797"	"00025520"	"90"	"1108"	"0"	"1108"	"0"	"c.1108C>T"	"r.(?)"	"p.(Gln370Ter)"	""
"0000345324"	"00023862"	"90"	"847"	"0"	"847"	"0"	"c.847G>A"	"r.(?)"	"p.(Glu283Lys)"	""
"0000345324"	"00025520"	"90"	"847"	"0"	"847"	"0"	"c.847G>A"	"r.(?)"	"p.(Glu283Lys)"	""
"0000345436"	"00023862"	"90"	"1396"	"0"	"1396"	"0"	"c.1396G>T"	"r.(?)"	"p.(Glu466Ter)"	""
"0000345436"	"00025520"	"90"	"1396"	"0"	"1396"	"0"	"c.1396G>T"	"r.(?)"	"p.(Glu466Ter)"	""
"0000350710"	"00023862"	"90"	"579"	"-3"	"579"	"-3"	"c.579-3C>G"	"r.spl?"	"p.?"	""
"0000350710"	"00025520"	"90"	"579"	"-3"	"579"	"-3"	"c.579-3C>G"	"r.spl?"	"p.?"	""
"0000350882"	"00023862"	"90"	"429"	"5"	"429"	"5"	"c.429+5G>C"	"r.spl?"	"p.?"	""
"0000350882"	"00025520"	"90"	"429"	"5"	"429"	"5"	"c.429+5G>C"	"r.spl?"	"p.?"	""
"0000350883"	"00023862"	"90"	"664"	"-2"	"664"	"-2"	"c.664-2A>C"	"r.spl?"	"p.?"	""
"0000350883"	"00025520"	"90"	"664"	"-2"	"664"	"-2"	"c.664-2A>C"	"r.spl?"	"p.?"	""
"0000350884"	"00023862"	"90"	"1359"	"5"	"1359"	"5"	"c.1359+5G>C"	"r.spl?"	"p.?"	""
"0000350884"	"00025520"	"90"	"1359"	"5"	"1359"	"5"	"c.1359+5G>C"	"r.spl?"	"p.?"	""
"0000368375"	"00023862"	"90"	"785"	"0"	"785"	"0"	"c.785del"	"r.(?)"	"p.(Asp262Valfs*15)"	""
"0000400798"	"00023862"	"70"	"1268"	"0"	"1268"	"0"	"c.1268T>C"	"r.(?)"	"p.(Leu423Pro)"	""
"0000405872"	"00023862"	"70"	"325"	"6"	"325"	"6"	"c.325+6T>C"	"r.spl"	"p.(=)"	""
"0000439751"	"00023862"	"70"	"864"	"0"	"864"	"0"	"c.864G>A"	"r.(?)"	"p.Trp288*"	""
"0000441251"	"00023862"	"90"	"755"	"0"	"755"	"0"	"c.755T>C"	"r.(?)"	"p.(Met252Thr)"	""
"0000441262"	"00023862"	"90"	"88"	"-51"	"246"	"205"	"c.88-51_246+205del"	"r.(88_246del)"	"p.(Val30_Lys82del)"	""
"0000469128"	"00023862"	"99"	"-197"	"0"	"246"	"1"	"c.(?_-197)_(246+1_247-1)del"	"r.0?"	"p.0?"	"1_4i"
"0000469129"	"00023862"	"95"	"-120"	"0"	"37"	"1"	"c.(?_-120)_(37+1_38-1)del"	"r.0?"	"p.0?"	"1_1i"
"0000469130"	"00023862"	"95"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"1_20"
"0000469131"	"00023862"	"99"	"0"	"0"	"0"	"0"	"c.(?_-181)_(*1958+?)del"	"r.0?"	"p.0?"	"1_20"
"0000469132"	"00023862"	"99"	"157"	"0"	"157"	"0"	"c.157G>T"	"r.(?)"	"p.(Glu53*)"	"3"
"0000469133"	"00023862"	"95"	"169"	"1"	"169"	"1"	"c.169+1G>A"	"r.[169_170ins169+1_169+570{169+1g>a}, 169_170ins169+1_169+1168{169+1g>a}, ...]"	"p.Ile57Asnfs*8"	"3i"
"0000469134"	"00023862"	"99"	"232"	"0"	"235"	"0"	"c.232_235del"	"r.(?)"	"p.(Thr78Hisfs*41)"	"4"
"0000469135"	"00023862"	"95"	"251"	"0"	"251"	"0"	"c.251T>A"	"r.(?)"	"p.(Val84Asp)"	"5"
"0000469136"	"00023862"	"99"	"388"	"0"	"389"	"0"	"c.388_389del"	"r.(?)"	"p.(Leu130Aspfs*11)"	"6"
"0000469137"	"00023862"	"95"	"429"	"1"	"429"	"1"	"c.429+1G>A"	"r.spl?"	"p.(fs*)"	"6i"
"0000469138"	"00023862"	"35"	"455"	"0"	"455"	"0"	"c.455C>G"	"r.(?)"	"p.(Ser152Cys)"	"7"
"0000469139"	"00023862"	"99"	"548"	"0"	"548"	"0"	"c.548T>G"	"r.(?)"	"p.(Leu183Arg)"	"7"
"0000469140"	"00023862"	"99"	"579"	"-1"	"1249"	"1"	"c.(578+1_579-1)_(1249+1_1250-1)del"	"r.(580_1249+1del)"	"p.(Glu194Glyfs*20)"	"7i_14"
"0000469141"	"00023862"	"95"	"539"	"0"	"539"	"0"	"c.539G>A"	"r.(?)"	"p.(Cys180Tyr)"	"8"
"0000469142"	"00023862"	"99"	"663"	"5"	"663"	"5"	"c.663+5G>A"	"r.579_663del"	"p.Glu194Alafs*10"	"8i"
"0000469143"	"00023862"	"99"	"703"	"0"	"703"	"0"	"c.703C>T"	"r.(?)"	"p.(Arg235*)"	"9"
"0000469144"	"00023862"	"99"	"747"	"0"	"747"	"0"	"c.747dup"	"r.(?)"	"p.(Gln250Serfs*6)"	"9"
"0000469145"	"00023862"	"95"	"893"	"0"	"894"	"0"	"c.893_894del"	"r.(?)"	"p.(Glu298Glyfs*15)"	"10"
"0000469146"	"00023862"	"99"	"902"	"1"	"902"	"1"	"c.902+1G>A"	"r.spl?"	"p.?"	"10i"
"0000469147"	"00023862"	"99"	"902"	"5"	"902"	"5"	"c.902+5G>A"	"r.902_903ins[guaaa;902+6_902+138]"	"p.Glu301*"	"10i"
"0000469148"	"00023862"	"99"	"961"	"0"	"961"	"0"	"c.961A>T"	"r.(?)"	"p.(Lys321*)"	"11"
"0000469149"	"00023862"	"95"	"963"	"-1"	"3770"	"0"	"c.(962+1_963-1)_(*1958_?)del"	"r.(del)"	"p.(Thr322_Glu603del)"	"11i_20"
"0000469150"	"00023862"	"95"	"1029"	"1"	"1029"	"1"	"c.1029+1G>T"	"r.[1029del,1029_1030ins[u;1029+2_1029+30],1029_1030ins[u;1029+2_1030-1]]"	"p.[Lys343Asnfs*13,Tyr344Leufs*12]"	"12i"
"0000469151"	"00023862"	"99"	"1206"	"0"	"1206"	"0"	"c.1206del"	"r.(?)"	"p.(Tyr402*)"	"12"
"0000469152"	"00023862"	"99"	"1039"	"0"	"1048"	"0"	"c.1039_1048dup"	"r.(?)"	"p.(Leu350Profs*6)"	"13"
"0000469153"	"00023862"	"95"	"1162"	"0"	"1162"	"0"	"c.1162C>T"	"r.(?)"	"p.(Arg388*)"	"14"
"0000469154"	"00023862"	"99"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	"14"
"0000469155"	"00023862"	"99"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	"14"
"0000469156"	"00023862"	"99"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	"14"
"0000469157"	"00023862"	"99"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	"14"
"0000469158"	"00023862"	"95"	"1328"	"0"	"1328"	"0"	"c.1328T>G"	"r.(?)"	"p.(Met443Arg)"	"15"
"0000469159"	"00023862"	"95"	"1434"	"0"	"1434"	"0"	"c.1434G>A"	"r.(?)"	"p.(Trp478*)"	"16"
"0000469160"	"00023862"	"99"	"1439"	"0"	"1439"	"0"	"c.1439C>T"	"r.(?)"	"p.(Pro480Leu)"	"16"
"0000469161"	"00023862"	"95"	"1631"	"0"	"1631"	"0"	"c.1631G>A"	"r.(?)"	"p.(Gly544Asp)"	"18"
"0000469162"	"00023862"	"99"	"1654"	"0"	"1654"	"0"	"c.1654T>C"	"r.(?)"	"p.(Cys552Arg)"	"18"
"0000469163"	"00023862"	"77"	"1720"	"0"	"1720"	"0"	"c.1720A>C"	"r.(?)"	"p.(Thr574Pro)"	"19"
"0000497690"	"00023862"	"70"	"169"	"2"	"169"	"2"	"c.169+2T>C"	"r.([169_170ins[gc;169+3_169+1168];169_170ins[gc;169+3_169+1334]])"	"p.(Ile57Serfs7*)"	""
"0000536296"	"00023862"	"90"	"246"	"0"	"246"	"2"	"c.246_246+2del"	"r.spl?"	"p.?"	""
"0000536296"	"00025520"	"90"	"246"	"0"	"246"	"2"	"c.246_246+2del"	"r.spl?"	"p.?"	""
"0000536298"	"00023862"	"10"	"325"	"8"	"325"	"8"	"c.325+8C>T"	"r.(=)"	"p.(=)"	""
"0000536298"	"00025520"	"10"	"325"	"8"	"325"	"8"	"c.325+8C>T"	"r.(=)"	"p.(=)"	""
"0000536301"	"00023862"	"50"	"524"	"0"	"524"	"0"	"c.524A>C"	"r.(?)"	"p.(Gln175Pro)"	""
"0000536301"	"00025520"	"50"	"524"	"0"	"524"	"0"	"c.524A>C"	"r.(?)"	"p.(Gln175Pro)"	""
"0000536302"	"00023862"	"90"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000536302"	"00025520"	"90"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000536303"	"00023862"	"90"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000536303"	"00025520"	"90"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000536304"	"00023862"	"30"	"627"	"0"	"627"	"0"	"c.627C>T"	"r.(?)"	"p.(Leu209=)"	""
"0000536304"	"00025520"	"30"	"627"	"0"	"627"	"0"	"c.627C>T"	"r.(?)"	"p.(Leu209=)"	""
"0000536305"	"00023862"	"90"	"1030"	"-1"	"1030"	"-1"	"c.1030-1G>T"	"r.spl?"	"p.?"	""
"0000536305"	"00025520"	"90"	"1030"	"-1"	"1030"	"-1"	"c.1030-1G>T"	"r.spl?"	"p.?"	""
"0000536306"	"00023862"	"90"	"1216"	"0"	"1216"	"0"	"c.1216C>T"	"r.(?)"	"p.(Arg406Cys)"	""
"0000536306"	"00025520"	"90"	"1216"	"0"	"1216"	"0"	"c.1216C>T"	"r.(?)"	"p.(Arg406Cys)"	""
"0000536307"	"00023862"	"50"	"1461"	"0"	"1461"	"0"	"c.1461G>A"	"r.(?)"	"p.(Glu487=)"	""
"0000536307"	"00025520"	"50"	"1461"	"0"	"1461"	"0"	"c.1461G>A"	"r.(?)"	"p.(Glu487=)"	""
"0000536310"	"00023862"	"90"	"1631"	"0"	"1631"	"0"	"c.1631G>T"	"r.(?)"	"p.(Gly544Val)"	""
"0000536310"	"00025520"	"90"	"1631"	"0"	"1631"	"0"	"c.1631G>T"	"r.(?)"	"p.(Gly544Val)"	""
"0000577988"	"00023862"	"90"	"1644"	"0"	"1644"	"0"	"c.1644del"	"r.(?)"	"p.(Asn548Lysfs*9)"	""
"0000604429"	"00023862"	"70"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000644174"	"00023862"	"90"	"1176"	"0"	"1176"	"0"	"c.1176del"	"r.(?)"	"p.(Ile393Phefs*22)"	""
"0000652596"	"00023862"	"50"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0000652596"	"00025520"	"50"	"569"	"0"	"569"	"0"	"c.569G>A"	""	""	""
"0000656223"	"00023862"	"90"	"416"	"0"	"416"	"0"	"c.416C>T"	"r.(?)"	"p.(Pro139Leu)"	""
"0000656223"	"00025520"	"90"	"416"	"0"	"416"	"0"	"c.416C>T"	"r.(?)"	"p.(Pro139Leu)"	""
"0000660251"	"00023862"	"90"	"663"	"1"	"663"	"1"	"c.663+1G>A"	"r.(?)"	"p.(?)"	""
"0000667553"	"00023862"	"90"	"875"	"0"	"875"	"0"	"c.875G>T"	"r.(?)"	"p.(Arg292Leu)"	""
"0000667555"	"00023862"	"90"	"875"	"0"	"875"	"0"	"c.875G>A"	"r.(?)"	"p.(Arg292His)"	""
"0000667557"	"00023862"	"90"	"1631"	"0"	"1631"	"0"	"c.1631del"	"r.(?)"	"p.(Gly544Valfs*2)"	""
"0000667687"	"00023862"	"90"	"1157"	"0"	"1157"	"0"	"c.1157dup"	"r.(?)"	"p.(Met387Tyrfs*17)"	""
"0000667688"	"00023862"	"70"	"1630"	"0"	"1630"	"0"	"c.1630G>T"	"r.(?)"	"p.(Gly544Cys)"	""
"0000667689"	"00023862"	"90"	"125"	"0"	"125"	"0"	"c.125C>T"	"r.(?)"	"p.(Ser42Phe)"	""
"0000667690"	"00023862"	"90"	"238"	"0"	"238"	"0"	"c.238T>C"	"r.(?)"	"p.(Ser80Pro)"	""
"0000667691"	"00023862"	"90"	"568"	"0"	"568"	"0"	"c.568C>T"	"r.(?)"	"p.(Arg190Trp)"	""
"0000667692"	"00023862"	"90"	"1060"	"0"	"1060"	"0"	"c.1060T>C"	"r.(?)"	"p.(Cys354Arg)"	""
"0000667693"	"00023862"	"90"	"1834"	"0"	"1834"	"0"	"c.*22A>G"	"r.(?)"	"p.(Thr570Ala)"	""
"0000673707"	"00023862"	"90"	"874"	"0"	"874"	"0"	"c.874C>T"	"r.(?)"	"p.(Arg292Cys)"	""
"0000673708"	"00023862"	"90"	"1387"	"0"	"1387"	"0"	"c.1387G>T"	"r.(?)"	"p.(Glu463*)"	""
"0000673709"	"00023862"	"70"	"794"	"5"	"794"	"5"	"c.794+5G>A"	"r.spl"	"p.?"	""
"0000678525"	"00023862"	"90"	"1032"	"0"	"1032"	"0"	"c.1032C>A"	"r.(?)"	"p.(Tyr344Ter)"	""
"0000678525"	"00025520"	"90"	"1032"	"0"	"1032"	"0"	"c.1032C>A"	"r.(?)"	"p.(Tyr344Ter)"	""
"0000678526"	"00023862"	"90"	"1130"	"0"	"1131"	"0"	"c.1130_1131del"	"r.(?)"	"p.(Asp377GlyfsTer2)"	""
"0000678526"	"00025520"	"90"	"1130"	"0"	"1131"	"0"	"c.1130_1131del"	"r.(?)"	"p.(Asp377GlyfsTer2)"	""
"0000678527"	"00023862"	"50"	"1514"	"0"	"1514"	"0"	"c.1514G>A"	"r.(?)"	"p.(Arg505His)"	""
"0000678527"	"00025520"	"50"	"1514"	"0"	"1514"	"0"	"c.1514G>A"	"r.(?)"	"p.(Arg505His)"	""
"0000683392"	"00023862"	"70"	"1651"	"0"	"1651"	"0"	"c.1651C>G"	"r.(?)"	"p.(Arg551Gly)"	""
"0000690407"	"00023862"	"50"	"1147"	"0"	"1147"	"0"	"c.1147A>G"	"r.(?)"	"p.(Ile383Val)"	""
"0000690407"	"00025520"	"50"	"1147"	"0"	"1147"	"0"	"c.1147A>G"	"r.(?)"	"p.(Ile383Val)"	""
"0000722268"	"00023862"	"30"	"281"	"0"	"281"	"0"	"c.281C>T"	"r.(?)"	"p.(Pro94Leu)"	""
"0000722268"	"00025520"	"30"	"281"	"0"	"281"	"0"	"c.281C>T"	"r.(?)"	"p.(Pro94Leu)"	""
"0000722269"	"00023862"	"90"	"365"	"0"	"365"	"0"	"c.365dup"	"r.(?)"	"p.(Ala123SerfsTer19)"	""
"0000722269"	"00025520"	"90"	"365"	"0"	"365"	"0"	"c.365dup"	"r.(?)"	"p.(Ala123SerfsTer19)"	""
"0000722270"	"00023862"	"50"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Glu132Lys)"	""
"0000722270"	"00025520"	"50"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Glu132Lys)"	""
"0000722271"	"00023862"	"70"	"734"	"0"	"734"	"0"	"c.734A>G"	"r.(?)"	"p.(His245Arg)"	""
"0000722271"	"00025520"	"70"	"734"	"0"	"734"	"0"	"c.734A>G"	"r.(?)"	"p.(His245Arg)"	""
"0000722272"	"00023862"	"70"	"1274"	"0"	"1274"	"0"	"c.1274A>G"	"r.(?)"	"p.(Lys425Arg)"	""
"0000722272"	"00025520"	"70"	"1274"	"0"	"1274"	"0"	"c.1274A>G"	"r.(?)"	"p.(Lys425Arg)"	""
"0000787059"	"00023862"	"70"	"842"	"0"	"846"	"0"	"c.842_846del"	"r.(?)"	"p.(Leu281ArgfsTer31)"	"10"
"0000787060"	"00023862"	"70"	"842"	"0"	"846"	"0"	"c.842_846del"	"r.(?)"	"p.(Leu281ArgfsTer31)"	"10"
"0000787061"	"00023862"	"90"	"1439"	"0"	"1439"	"0"	"c.1439C>T"	"r.(?)"	"p.(Pro480Leu)"	"16"
"0000788914"	"00023862"	"70"	"795"	"-1"	"795"	"-1"	"c.795-1G>A"	"r.spl"	"p.?"	""
"0000788923"	"00023862"	"70"	"1607"	"0"	"1607"	"0"	"c.1607G>A"	"r.(?)"	"p.(Arg536His)"	""
"0000789904"	"00023862"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000789904"	"00025520"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000791280"	"00023862"	"70"	"915"	"0"	"915"	"0"	"c.915del"	"r.(?)"	"p.(Ser306LeufsTer2)"	""
"0000803877"	"00023862"	"90"	"1500"	"0"	"1513"	"0"	"c.1500_1513del"	"r.(?)"	"p.(Tyr501Phefs*19)"	""
"0000803877"	"00025520"	"90"	"1500"	"0"	"1513"	"0"	"c.1500_1513del"	"r.(?)"	"p.(Tyr501Phefs*19)"	""
"0000803878"	"00023862"	"30"	"1548"	"0"	"1548"	"0"	"c.1548C>T"	"r.(?)"	"p.(Ser516=)"	""
"0000803878"	"00025520"	"30"	"1548"	"0"	"1548"	"0"	"c.1548C>T"	"r.(?)"	"p.(Ser516=)"	""
"0000803879"	"00023862"	"30"	"1702"	"7"	"1702"	"7"	"c.1702+7G>C"	"r.(=)"	"p.(=)"	""
"0000803879"	"00025520"	"30"	"1702"	"7"	"1702"	"7"	"c.1702+7G>C"	"r.(=)"	"p.(=)"	""
"0000861395"	"00023862"	"10"	"88"	"-53"	"88"	"-53"	"c.88-53C>T"	"r.(=)"	"p.(=)"	""
"0000861395"	"00025520"	"10"	"88"	"-53"	"88"	"-53"	"c.88-53C>T"	"r.(=)"	"p.(=)"	""
"0000861396"	"00023862"	"90"	"385"	"0"	"385"	"0"	"c.385del"	"r.(?)"	"p.(Thr129Leufs*2)"	""
"0000861396"	"00025520"	"90"	"385"	"0"	"385"	"0"	"c.385del"	"r.(?)"	"p.(Thr129Leufs*2)"	""
"0000861397"	"00023862"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000861397"	"00025520"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0000876716"	"00025520"	"90"	"875"	"0"	"875"	"0"	"c.875G>A"	"r.(?)"	"p.(Arg292His)"	""
"0000881254"	"00023862"	"70"	"993"	"0"	"993"	"0"	"c.993del"	"r.(?)"	"p.(Lys332Argfs*24)"	""
"0000888627"	"00023862"	"70"	"469"	"0"	"469"	"0"	"c.469T>C"	"r.(?)"	"p.(Tyr157His)"	""
"0000888627"	"00025520"	"70"	"469"	"0"	"469"	"0"	"c.469T>C"	"r.(?)"	"p.(Tyr157His)"	""
"0000888628"	"00023862"	"90"	"1651"	"0"	"1651"	"0"	"c.1651C>T"	"r.(?)"	"p.(Arg551Cys)"	""
"0000888628"	"00025520"	"90"	"1651"	"0"	"1651"	"0"	"c.1651C>T"	"r.(?)"	"p.(Arg551Cys)"	""
"0000908548"	"00023862"	"90"	"187"	"0"	"187"	"0"	"c.187A>T"	"r.(?)"	"p.(Lys63Ter)"	""
"0000908549"	"00023862"	"90"	"875"	"0"	"875"	"0"	"c.875G>A"	"r.(?)"	"p.(Arg292His)"	""
"0000908550"	"00023862"	"90"	"1631"	"0"	"1631"	"0"	"c.1631G>T"	"r.(?)"	"p.(Gly544Val)"	""
"0000908905"	"00023862"	"90"	"1249"	"0"	"1249"	"0"	"c.1249G>C"	"r.[1111_1249del,1249delins[c;1249+1_1250-1],1195_1249del]"	"p.[Asp371Alafs*7,Ile418Glyfs*80,Val399Alafs*7]"	""
"0000922686"	"00023862"	"90"	"1454"	"0"	"1454"	"0"	"c.1454T>A"	"r.(?)"	"p.(Ile485Asn)"	""
"0000929535"	"00023862"	"70"	"430"	"0"	"430"	"0"	"c.430G>T"	"r.(?)"	"p.(Val144Phe)"	""
"0000929535"	"00025520"	"70"	"430"	"0"	"430"	"0"	"c.430G>T"	"r.(?)"	"p.(Val144Phe)"	""
"0000936024"	"00023862"	"90"	"889"	"0"	"889"	"0"	"c.889G>A"	"r.(?)"	"p.(Ala297Thr)"	""
"0000936024"	"00025520"	"90"	"889"	"0"	"889"	"0"	"c.889G>A"	"r.(?)"	"p.(Ala297Thr)"	""
"0000959732"	"00023862"	"90"	"1151"	"0"	"1151"	"0"	"c.1151dup"	"r.(?)"	"p.(Asp385GlyfsTer19)"	""
"0000978399"	"00023862"	"50"	"1399"	"0"	"1399"	"0"	"c.1399C>T"	"r.(?)"	"p.(Arg467Cys)"	""
"0000978399"	"00025520"	"50"	"1399"	"0"	"1399"	"0"	"c.1399C>T"	"r.(?)"	"p.(Arg467Cys)"	""
"0000985298"	"00025520"	"70"	"901"	"0"	"901"	"0"	"c.901C>T"	"r.(?)"	"p.(Gln301*)"	"10"
"0000997494"	"00023862"	"50"	"1171"	"0"	"1171"	"0"	"c.1171G>A"	"r.(?)"	"p.(Val391Ile)"	""
"0000997494"	"00025520"	"50"	"1171"	"0"	"1171"	"0"	"c.1171G>A"	"r.(?)"	"p.(Val391Ile)"	""
"0001011937"	"00023862"	"90"	"1060"	"0"	"1060"	"0"	"c.1060T>C"	"r.(?)"	"p.(Cys354Arg)"	""
"0001011961"	"00023862"	"90"	"1295"	"0"	"1295"	"0"	"c.1295T>A"	"r.(?)"	"p.(Ile432Lys)"	""
"0001018822"	"00023862"	"70"	"550"	"0"	"552"	"0"	"c.550_552del"	"r.(?)"	"p.(Lys184del)"	"7"
"0001018822"	"00025520"	"70"	"550"	"0"	"552"	"0"	"c.550_552del"	"r.(?)"	"p.(Lys184del)"	"7"
"0001030124"	"00025520"	"70"	"795"	"-1"	"795"	"-1"	"c.795-1G>C"	"r.spl?"	"p.?"	"9i"
"0001030152"	"00025520"	"50"	"794"	"4"	"794"	"7"	"c.794+4_794+7del"	"r.spl?"	"p.?"	"9i"
"0001037185"	"00023862"	"30"	"170"	"-460"	"170"	"-460"	"c.170-460G>A"	"r.(=)"	"p.(=)"	""
"0001037185"	"00025520"	"30"	"170"	"-460"	"170"	"-460"	"c.170-460G>A"	"r.(=)"	"p.(=)"	""
"0001037186"	"00023862"	"50"	"335"	"0"	"335"	"0"	"c.335A>G"	"r.(?)"	"p.(Asp112Gly)"	""
"0001037186"	"00025520"	"50"	"335"	"0"	"335"	"0"	"c.335A>G"	"r.(?)"	"p.(Asp112Gly)"	""
"0001037187"	"00023862"	"30"	"1110"	"928"	"1110"	"928"	"c.1110+928C>T"	"r.(=)"	"p.(=)"	""
"0001037187"	"00025520"	"30"	"1110"	"928"	"1110"	"928"	"c.1110+928C>T"	"r.(=)"	"p.(=)"	""
"0001037188"	"00023862"	"30"	"1351"	"0"	"1351"	"0"	"c.1351G>A"	"r.(?)"	"p.(Val451Ile)"	""
"0001037188"	"00025520"	"30"	"1351"	"0"	"1351"	"0"	"c.1351G>A"	"r.(?)"	"p.(Val451Ile)"	""
"0001049039"	"00023862"	"90"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Arg406His)"	""
"0001049051"	"00023862"	"90"	"170"	"-2"	"170"	"-2"	"c.170-2A>G"	"r.spl"	"p.?"	""
"0001053348"	"00023862"	"70"	"325"	"2"	"325"	"2"	"c.325+2T>C"	"r.spl?"	"p.?"	""
"0001053348"	"00025520"	"70"	"325"	"2"	"325"	"2"	"c.325+2T>C"	"r.spl?"	"p.?"	""
"0001053349"	"00023862"	"30"	"1360"	"-347"	"1360"	"-347"	"c.1360-347C>T"	"r.(=)"	"p.(=)"	""
"0001053349"	"00025520"	"30"	"1360"	"-347"	"1360"	"-347"	"c.1360-347C>T"	"r.(=)"	"p.(=)"	""
"0001053350"	"00023862"	"70"	"1662"	"0"	"1662"	"0"	"c.1662C>A"	"r.(?)"	"p.(Tyr554Ter)"	""
"0001053350"	"00025520"	"70"	"1662"	"0"	"1662"	"0"	"c.1662C>A"	"r.(?)"	"p.(Tyr554Ter)"	""
"0001059223"	"00023862"	"90"	"1216"	"0"	"1216"	"0"	"c.1216C>T"	"r.(?)"	"p.(Arg406Cys)"	""
"0001059224"	"00023862"	"90"	"1607"	"0"	"1607"	"0"	"c.1607G>A"	"r.(?)"	"p.(Arg536His)"	""
"0001059225"	"00023862"	"90"	"795"	"-1"	"795"	"-1"	"c.795-1G>A"	"r.spl"	"p.?"	""
"0001059226"	"00023862"	"90"	"875"	"0"	"875"	"0"	"c.875G>A"	"r.(?)"	"p.(Arg292His)"	""
"0001059227"	"00023862"	"90"	"1061"	"0"	"1061"	"0"	"c.1061G>A"	"r.(?)"	"p.(Cys354Tyr)"	""
"0001059228"	"00023862"	"90"	"897"	"0"	"898"	"0"	"c.897_898del"	"r.(?)"	"p.(Ser300ProfsTer13)"	""
"0001059229"	"00023862"	"90"	"875"	"0"	"875"	"0"	"c.875G>A"	"r.(?)"	"p.(Arg292His)"	""
"0001059230"	"00023862"	"90"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190Gln)"	""
"0001059231"	"00023862"	"70"	"1614"	"0"	"1616"	"0"	"c.1614_1616del"	"r.(?)"	"p.(Ile539del)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 116
"{{screeningid}}"	"{{variantid}}"
"0000037274"	"0000064399"
"0000037275"	"0000064400"
"0000037276"	"0000064401"
"0000037277"	"0000064402"
"0000037278"	"0000064403"
"0000037279"	"0000064404"
"0000037280"	"0000064405"
"0000037281"	"0000064406"
"0000037282"	"0000064407"
"0000037283"	"0000064408"
"0000050332"	"0000079312"
"0000050358"	"0000079338"
"0000050481"	"0000079461"
"0000050519"	"0000079499"
"0000050545"	"0000079525"
"0000050635"	"0000079615"
"0000081125"	"0000130211"
"0000081138"	"0000130224"
"0000117349"	"0000188461"
"0000133804"	"0000223232"
"0000145530"	"0000237905"
"0000145530"	"0000368375"
"0000177920"	"0000400798"
"0000182052"	"0000405872"
"0000209593"	"0000439751"
"0000210081"	"0000441251"
"0000210091"	"0000441262"
"0000228866"	"0000469128"
"0000228867"	"0000469129"
"0000228868"	"0000469130"
"0000228869"	"0000469131"
"0000228870"	"0000469135"
"0000228871"	"0000469141"
"0000228872"	"0000469153"
"0000228873"	"0000469158"
"0000228874"	"0000469159"
"0000228875"	"0000469161"
"0000228876"	"0000469145"
"0000228877"	"0000469133"
"0000228878"	"0000469150"
"0000228879"	"0000469137"
"0000228880"	"0000469149"
"0000228881"	"0000469138"
"0000228882"	"0000469154"
"0000228883"	"0000469155"
"0000228884"	"0000469156"
"0000228885"	"0000469132"
"0000228886"	"0000469136"
"0000228887"	"0000469142"
"0000228888"	"0000469143"
"0000228889"	"0000469144"
"0000228890"	"0000469148"
"0000228891"	"0000469147"
"0000228892"	"0000469151"
"0000228893"	"0000469134"
"0000228894"	"0000469162"
"0000228895"	"0000469157"
"0000228896"	"0000469152"
"0000228897"	"0000469146"
"0000228898"	"0000469160"
"0000228899"	"0000469163"
"0000228900"	"0000469140"
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