### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHAT)
# 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}}"
"CHAT"	"choline O-acetyltransferase"	"10"	"q11.2"	"unknown"	"NG_011797.1"	"UD_132085228294"	""	"https://www.LOVD.nl/CHAT"	""	"1"	"1912"	"1103"	"118490"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/CHAT_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <a href=\"http://www.DMD.nl\" target=\"_blank\">Leiden Muscular Dystrophy pages</a></font>"	"-1"	""	"-1"	"00001"	"2011-02-01 00:00:00"	"00006"	"2018-11-11 10:07:55"	"00006"	"2026-03-06 17:26:39"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00005068"	"CHAT"	"transcript variant M"	"006"	"NM_020549.4"	""	"NP_065574.3"	""	""	""	"-153"	"2305"	"2247"	"50822083"	"50873150"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00204"	"AD"	"Alzheimer disease (AD)"	"AD"	"104300"	""	""	""	"00006"	"2013-09-24 20:52:38"	"00006"	"2021-12-10 21:51:32"
"00244"	"MYOP"	"myopathy (MYOP)"	""	""	""	""	""	"00006"	"2013-10-12 23:00:55"	"00006"	"2019-06-19 11:52:31"
"01947"	"CMS6"	"myasthenic syndrome, congenital, type 6, presynaptic (CMS-6)"	"AR"	"254210"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04312"	"CMS"	"myasthenic syndrome, congenital (CMS)"	""	""	""	""	""	"00006"	"2015-08-28 20:21:50"	"00006"	"2021-12-10 21:51:32"
"05324"	"DMD"	"dystrophy, muscular, Duchenne type (DMD)"	"XLR"	"310200"	""	""	""	"00006"	"2017-09-01 17:41:21"	"00006"	"2021-12-10 21:51:32"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CHAT"	"01947"


## Individuals ## Do not remove or alter this header ##
## Count = 65
"{{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}}"
"00035192"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035194"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035195"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035196"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035197"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035198"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035199"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035200"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035201"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00117930"	""	""	""	"1"	""	"01802"	"de Natera, 2017"	""	"F"	"no"	"Spain"	""	"0"	""	""	""	"patient 61"
"00117931"	""	""	""	"1"	""	"01802"	"de Natera, 2017"	""	"M"	"no"	"Spain"	""	"0"	""	""	""	"patient 62"
"00183249"	""	""	""	"1"	""	"00006"	"{PMID:O\'Grady 2016:27590285}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Philippines"	""	"0"	""	""	""	"Fam1"
"00205229"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2001:11172068}"	""	"?"	""	""	""	"0"	""	""	""	"11172068-Pat2"
"00205230"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2001:11172068}"	""	"?"	""	""	""	"0"	""	""	""	"11172068-Pat3"
"00205234"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2001:11172068}"	""	"?"	""	""	""	"0"	""	""	""	"11172068-Pat4"
"00205236"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2001:11172068}"	""	"?"	""	""	""	"0"	""	""	""	"11172068-Pat5"
"00205237"	""	""	""	"1"	""	"00006"	"{PMID:Mubumbila 2002:12401548}"	""	"?"	""	""	""	"0"	""	""	""	""
"00205238"	""	""	""	"1"	""	"00006"	"{PMID:Maselli 2003:12548525}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"?"	""	"United States"	""	"0"	""	""	""	"12548525-Fam3Pat5"
"00205240"	""	""	""	"2"	""	"00006"	"{PMID:Maselli 2003:12548525}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents"	"?"	""	"United States"	""	"0"	""	""	""	"12548525-Fam2Pat3/4"
"00205241"	""	""	""	"1"	""	"00513"	"{PMID:Kraner 2003:12756141}, {PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"4-generation family, 2 affected sibs"	"F"	""	"Turkey"	">12y"	"0"	""	""	""	""
"00205242"	""	""	""	"1"	""	"00513"	"{PMID:Barisic 2005:15701560}"	"2-generation family, unaffected carrier parents"	"M"	"no"	"Croatia (Hrvatska)"	">19m"	"0"	""	""	""	""
"00205243"	""	""	""	"1"	""	"00006"	"{PMID:Yeung 2009:18797171}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"?"	""	"China"	""	"0"	""	""	""	"18797171-Pat1"
"00205244"	""	""	""	"2"	""	"00006"	"{PMID:Maselli 2003:12548525}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents"	"?"	""	"United States"	""	"0"	""	""	""	"12548525-Fam1Pat1/2"
"00205245"	""	""	""	"1"	""	"00006"	"{PMID:Mallory 2009:19520274}"	""	"?"	""	""	""	"0"	""	""	""	""
"00205246"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2001:11172068}"	""	"?"	""	""	""	"0"	""	""	""	"11172068-Pat1"
"00205247"	""	""	""	"2"	""	"00507"	""	""	"F"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205248"	""	""	""	"2"	""	"00507"	""	""	"M"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205249"	""	""	""	"2"	""	"00507"	""	""	"M"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205250"	""	""	""	"2"	""	"00507"	""	""	"M"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205251"	""	""	""	"2"	""	"00507"	""	""	"M"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205252"	""	""	""	"2"	""	"00507"	""	""	"M"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205253"	""	""	""	"1"	""	"00507"	""	""	"F"	"yes"	"(United States)"	""	"0"	""	""	""	""
"00205254"	""	""	""	"2"	""	"00507"	""	""	"F"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205255"	""	""	""	"2"	""	"00507"	""	""	"F"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205256"	""	""	""	"2"	""	"00507"	""	""	"F"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205257"	""	""	""	"2"	""	"00507"	""	"brother of Fam9-II2"	"M"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205258"	""	""	""	"2"	""	"00507"	""	"sister of Fam9-II1"	"F"	"no"	"(United States)"	""	"0"	""	""	""	""
"00205259"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	""	"F"	""	"Italy"	">1y7m"	"0"	""	""	""	""
"00205260"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	""	"M"	""	"Lebanon"	">2y"	"0"	""	""	""	""
"00205261"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	""	"M"	""	"Turkey"	">5y"	"0"	""	""	""	""
"00205262"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	""	"M"	""	"Germany"	">5y"	"0"	""	""	""	""
"00205263"	""	""	""	"1"	""	"00513"	"{PMID:Barisic 2005:15701560}"	"3-generation family, unaffected carrier parents/grandparents"	"F"	"no"	"Croatia (Hrvatska)"	">26m"	"0"	""	""	""	""
"00205264"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	""	"F"	""	"Finland"	">12y"	"0"	""	""	""	""
"00205265"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	"sib of 19900826-Pat07"	"M"	""	"Turkey"	">14y"	"0"	""	""	""	""
"00205266"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	"sib of 19900826-Pat06"	"M"	""	"Turkey"	">5y"	"0"	""	""	""	""
"00205267"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	"4-generation family, 2 affected sibs"	"M"	""	"Turkey"	">3y"	"0"	""	""	""	""
"00205268"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	"2-generation family, 1 affected/4 unaffected children"	"F"	""	"Turkey"	">5y"	"0"	""	""	""	""
"00205269"	""	""	""	"1"	""	"00513"	"{PMID:Schara 2010:19900826}"	""	"F"	""	"Turkey"	">7y"	"0"	""	""	""	""
"00205270"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205271"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205272"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"Sweden"	""	"0"	""	""	"Iraq, kurdish"	""
"00205273"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	"Lebanon"	""
"00205274"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00290050"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290051"	""	""	""	"74"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290052"	""	""	""	"28"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290053"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304244"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00388639"	""	""	""	"1"	""	"00006"	"{PMID:Chakravorty 2020:33250842}"	""	"M"	""	"India"	""	"0"	""	""	"India"	"Pat85"
"00406622"	""	""	""	"1"	""	"04292"	""	""	"M"	""	""	""	""	""	""	""	"3"
"00428220"	""	""	""	"2"	""	"00006"	"{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}"	"family, 2 affected (F, M) (1 fetus)"	"M"	""	"Germany"	"0m"	"0"	""	""	""	"Fam2PatII1"
"00428221"	""	""	"00428220"	"1"	""	"00006"	"{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}"	"fetus"	"F"	""	"Germany"	"<0d"	"0"	""	""	""	"Fam2PatII2"
"00437934"	""	""	""	"2"	""	"00006"	"{PMID:Erbe 2023:37834164}"	"4-generation family, 2 affected (2M), 2 unaffected carrier females"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00442795"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"M"	""	""	""	"0"	""	""	""	"Pat167"
"00473649"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"Fam9506784Pat1063"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 62
"{{individualid}}"	"{{diseaseid}}"
"00035192"	"00198"
"00035194"	"00198"
"00035194"	"04312"
"00035196"	"00198"
"00035198"	"00198"
"00035201"	"00198"
"00117930"	"01947"
"00117931"	"01947"
"00183249"	"04312"
"00205229"	"04312"
"00205230"	"04312"
"00205234"	"04312"
"00205236"	"04312"
"00205237"	"00204"
"00205238"	"04312"
"00205240"	"04312"
"00205241"	"04312"
"00205242"	"04312"
"00205243"	"04312"
"00205244"	"04312"
"00205245"	"04312"
"00205246"	"04312"
"00205247"	"04312"
"00205248"	"04312"
"00205249"	"04312"
"00205250"	"04312"
"00205251"	"04312"
"00205252"	"04312"
"00205253"	"04312"
"00205254"	"04312"
"00205255"	"04312"
"00205256"	"04312"
"00205257"	"04312"
"00205258"	"04312"
"00205259"	"04312"
"00205260"	"04312"
"00205261"	"04312"
"00205262"	"04312"
"00205263"	"04312"
"00205264"	"04312"
"00205265"	"04312"
"00205266"	"04312"
"00205267"	"04312"
"00205268"	"04312"
"00205269"	"04312"
"00205270"	"04312"
"00205271"	"04312"
"00205272"	"04312"
"00205273"	"04312"
"00205274"	"04312"
"00290050"	"00198"
"00290051"	"00198"
"00290052"	"00198"
"00290053"	"00198"
"00304244"	"00198"
"00388639"	"00244"
"00406622"	"01947"
"00428220"	"00198"
"00428221"	"00198"
"00437934"	"05324"
"00442795"	"05618"
"00473649"	"04312"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00204, 00244, 01947, 04312, 05324, 05618
## Count = 54
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000143979"	"04312"	"00183249"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"CMS-21"	"congenital myasthenic syndrome"	""
"0000153423"	"04312"	"00205229"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153424"	"04312"	"00205230"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153428"	"04312"	"00205234"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153430"	"04312"	"00205236"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153431"	"00204"	"00205237"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Alzheimer disease, association"	""
"0000153432"	"04312"	"00205238"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153434"	"04312"	"00205240"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153435"	"04312"	"00205241"	"00513"	"Isolated (sporadic)"	""	""	"2y"	""	"ptosis, apnoea, hypotonia, generalized muscle weakness, crises respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153436"	"04312"	"00205242"	"00513"	"Isolated (sporadic)"	""	""	"<0d"	""	"reduced fetal movements"	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153437"	"04312"	"00205243"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., congenital myasthenia gravis, complete ptosis, severe hypotonia, dysphagia, respiratory insufficiency with recurrent apnea requiring mechanical ventilatory support since birth"	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153438"	"04312"	"00205244"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153439"	"04312"	"00205245"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153440"	"04312"	"00205246"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153441"	"04312"	"00205247"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153442"	"04312"	"00205248"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153443"	"04312"	"00205249"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153444"	"04312"	"00205250"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153445"	"04312"	"00205251"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153446"	"04312"	"00205252"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153447"	"04312"	"00205253"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153448"	"04312"	"00205254"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153449"	"04312"	"00205255"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153450"	"04312"	"00205256"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153451"	"04312"	"00205257"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153452"	"04312"	"00205258"	"00507"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153453"	"04312"	"00205259"	"00513"	"Unknown"	""	""	"8m"	""	"ptosis, facial weakness, exercise intolerance, crises respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153454"	"04312"	"00205260"	"00513"	"Unknown"	""	""	">0d"	""	"ptosis, apnoea, hypotonia, bulbar weakness, crises respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153455"	"04312"	"00205261"	"00513"	"Isolated (sporadic)"	""	""	">0d"	""	"ptosis, apnoea, hypotonia, bulbar weakness"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153456"	"04312"	"00205262"	"00513"	"Unknown"	""	""	"8m"	""	"ptosis, apnoea, generalized muscle weakness, exercise intolerance, crises respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153457"	"04312"	"00205263"	"00513"	"Isolated (sporadic)"	""	""	"0d"	""	"generalized hypotonia, respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153458"	"04312"	"00205264"	"00513"	"Unknown"	""	""	"2y"	""	"ptosis, generalized muscle weakness, exercise intolerance"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153459"	"04312"	"00205265"	"00513"	"Unknown"	""	""	"21m"	""	"ptosis, apnoea, facial weakness, hypotonia, exercise intolerance, crises respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153460"	"04312"	"00205266"	"00513"	"Unknown"	""	""	">0d"	""	"ptosis, facial weakness, hypotonia"	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153461"	"04312"	"00205267"	"00513"	"Isolated (sporadic)"	""	""	">0d"	""	"ptosis, apnoea, hypotonia, respiratory insufficiency"	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153462"	"04312"	"00205268"	"00513"	"Isolated (sporadic)"	""	""	"1y"	""	"ptosis, facial weakness, exercise intolerance"	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153463"	"04312"	"00205269"	"00513"	"Unknown"	""	""	"1y"	""	"ptosis, proximal weakness"	""	""	""	""	""	"CMS-6"	"myasthenic syndrome, congenital, episodic apnea"	""
"0000153464"	"04312"	"00205270"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153465"	"04312"	"00205271"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153466"	"04312"	"00205272"	"00464"	"Unknown"	""	"myasthenic syndrome, congenital (CMS); episodic apnea"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""
"0000153467"	"04312"	"00205273"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153468"	"04312"	"00205274"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-6"	"congenital myasthenic syndrome"	""
"0000153582"	"04312"	"00035194"	"01164"	"Unknown"	""	"CMS with episodic apnea"	""	""	""	""	""	""	""	""	""	""	""
"0000156051"	"00198"	"00035192"	"01164"	"Familial"	""	"Congenital masthenic syndrom"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""
"0000156052"	"00198"	"00035194"	"01164"	"Familial"	""	"CMS with episodic apnea"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""
"0000156053"	"00198"	"00035196"	"01164"	"Unknown"	""	"suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156054"	"00198"	"00035198"	"01164"	"Unknown"	""	"abnormal development; suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156055"	"00198"	"00035201"	"01164"	"Unknown"	""	"abnormal development; suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000282179"	"00244"	"00388639"	"00006"	"Familial, autosomal recessive"	"27y"	"distal muscle weakness, proximal muscle weakness; CK level 587 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles; no cardiac involvement; 27y-ambulant"	"23y"	""	""	""	""	""	""	""	""	""	""
"0000319132"	"00198"	"00428220"	"00006"	"Familial, autosomal recessive"	"0m"	"birth 33w; reduced fetal movements, polyhydramnios, pulmonary hypoplasia, hydrops fetalis; multiple joint contractures, rocker-bottom feet; no dysmorphism; respiratory insufficiency, pulmonary hypoplasia"	""	""	""	""	""	""	""	""	"CMS6"	"fetal akinesia"	""
"0000319133"	"00198"	"00428221"	"00006"	"Familial, autosomal recessive"	"<0d"	"termination pregnancy 23w; reduced fetal movements, velamentous insertion, lymphoedema of the feet, scalp oedema; contractures wrists, rocker-bottom feet; micrognathia,  retrognathia, long philtrum; pulmonary hypoplasia, flexion anomaly of both hands"	""	""	""	""	""	""	""	""	"CMS6"	"fetal akinesia"	""
"0000327839"	"05324"	"00437934"	"00006"	"Familial, X-linked recessive"	"24y"	"see paper; ..., 1m-elevated CK level (increased during course disease up to over 17,000 U/L); 11m-muscle weakness, hypotonia proximal legs, arms, trunk, shoulders, face, pharynx; areflexia, multiple contractures; ositive Gowers sign, pseudohypertrophy calves/tongue; 11y-loss of ambulation; 24y-severe generalized muscle weakness,hypotonia with involvement facial/pharyngeal muscles, nourished through PEG tube, tracheotomized, ventilated entire day, significant reduction intelligence/dyslalia, never able to complete sentences"	"00y01m"	""	""	""	""	""	""	""	"DMD"	"Duchenne muscular dystrophy"	""
"0000332142"	"05618"	"00442795"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"myotonia, respiratory weakness"	""
"0000358444"	"04312"	"00473649"	"00006"	"Familial, autosomal recessive"	"7y"	"Difficulty climbing stairs after exercise; Difficulty chewing; Facial weakness, mild; Ptosis; Muscle weakness, lower>upper; Muscle wasting, lower limbs; One episode of diplopia, fever, dysarthria and respiratory infection. Immunologic test is negative for acetylcholine receptor (AChR) autoantibodies"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 65
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000035262"	"00035192"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035264"	"00035194"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035265"	"00035195"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035266"	"00035196"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035267"	"00035197"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035268"	"00035198"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035269"	"00035199"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035270"	"00035200"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035271"	"00035201"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000118393"	"00117930"	"1"	"01802"	"01802"	"2017-09-04 18:03:57"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000118394"	"00117931"	"1"	"01802"	"01802"	"2017-09-04 18:08:05"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000184206"	"00183249"	"1"	"00006"	"00006"	"2018-10-19 17:19:54"	"00006"	"2018-10-19 17:28:00"	"arrayCNV;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000206259"	"00205229"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206260"	"00205230"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206264"	"00205234"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206266"	"00205236"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206267"	"00205237"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206268"	"00205238"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206270"	"00205240"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206271"	"00205241"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206272"	"00205242"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000206273"	"00205243"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206274"	"00205244"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206275"	"00205245"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206276"	"00205246"	"1"	"00006"	"00006"	"2011-02-13 11:19:31"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206277"	"00205247"	"1"	"00507"	"00006"	"2011-05-27 21:15:59"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206278"	"00205248"	"1"	"00507"	"00006"	"2011-05-27 21:20:02"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206279"	"00205249"	"1"	"00507"	"00006"	"2011-05-27 21:23:07"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206280"	"00205250"	"1"	"00507"	"00006"	"2011-05-27 21:25:14"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206281"	"00205251"	"1"	"00507"	"00006"	"2011-05-27 21:27:26"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206282"	"00205252"	"1"	"00507"	"00006"	"2011-05-27 21:32:09"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206283"	"00205253"	"1"	"00507"	"00006"	"2011-05-27 21:35:33"	"00006"	"2012-03-04 16:08:34"	"CSCE"	"DNA"	""	""
"0000206284"	"00205254"	"1"	"00507"	"00006"	"2011-06-19 21:00:15"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000206285"	"00205255"	"1"	"00507"	"00006"	"2011-06-19 21:00:15"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206286"	"00205256"	"1"	"00507"	"00006"	"2011-06-19 21:00:15"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206287"	"00205257"	"1"	"00507"	"00006"	"2011-06-19 21:00:15"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206288"	"00205258"	"1"	"00507"	"00006"	"2011-06-19 21:00:15"	"00006"	"2012-03-09 18:55:42"	"CSCE"	"DNA"	""	""
"0000206289"	"00205259"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206290"	"00205260"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206291"	"00205261"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206292"	"00205262"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206293"	"00205263"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000206294"	"00205264"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206295"	"00205265"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206296"	"00205266"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206297"	"00205267"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206298"	"00205268"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206299"	"00205269"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206300"	"00205270"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206301"	"00205271"	"1"	"00513"	"00006"	"2011-12-28 13:36:22"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206302"	"00205272"	"1"	"00464"	"00006"	"2012-02-15 21:50:11"	"00006"	"2013-02-01 19:44:08"	"PCR;SEQ"	"DNA"	""	""
"0000206303"	"00205273"	"1"	"00464"	"00006"	"2012-10-19 15:39:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000206304"	"00205274"	"1"	"00464"	"00006"	"2013-10-31 15:19:42"	"00006"	"2013-11-01 17:21:50"	"PCR;SEQ"	"DNA"	""	""
"0000291218"	"00290050"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291219"	"00290051"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291220"	"00290052"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291221"	"00290053"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305373"	"00304244"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000389881"	"00388639"	"1"	"00006"	"00006"	"2021-11-04 20:51:09"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000407866"	"00406622"	"1"	"04292"	"04292"	"2022-04-02 20:42:54"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000429631"	"00428220"	"1"	"00006"	"00006"	"2022-12-24 16:09:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000429632"	"00428221"	"1"	"00006"	"00006"	"2022-12-24 16:09:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439418"	"00437934"	"1"	"00006"	"00006"	"2023-10-16 20:34:54"	""	""	"OM;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444279"	"00442795"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000475318"	"00473649"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 51
"{{screeningid}}"	"{{geneid}}"
"0000035262"	"CHAT"
"0000035264"	"CHAT"
"0000035265"	"CHAT"
"0000035266"	"CHAT"
"0000035267"	"CHAT"
"0000035268"	"CHAT"
"0000035269"	"CHAT"
"0000035270"	"CHAT"
"0000035271"	"CHAT"
"0000184206"	"SLC18A3"
"0000206259"	"CHAT"
"0000206260"	"CHAT"
"0000206264"	"CHAT"
"0000206266"	"CHAT"
"0000206267"	"CHAT"
"0000206268"	"CHAT"
"0000206270"	"CHAT"
"0000206271"	"CHAT"
"0000206272"	"CHAT"
"0000206273"	"CHAT"
"0000206274"	"CHAT"
"0000206275"	"CHAT"
"0000206276"	"CHAT"
"0000206277"	"CHAT"
"0000206278"	"CHAT"
"0000206279"	"CHAT"
"0000206280"	"CHAT"
"0000206281"	"CHAT"
"0000206282"	"CHAT"
"0000206283"	"CHAT"
"0000206284"	"CHAT"
"0000206285"	"CHAT"
"0000206286"	"CHAT"
"0000206287"	"CHAT"
"0000206288"	"CHAT"
"0000206289"	"CHAT"
"0000206290"	"CHAT"
"0000206291"	"CHAT"
"0000206292"	"CHAT"
"0000206293"	"CHAT"
"0000206294"	"CHAT"
"0000206295"	"CHAT"
"0000206296"	"CHAT"
"0000206297"	"CHAT"
"0000206298"	"CHAT"
"0000206299"	"CHAT"
"0000206300"	"CHAT"
"0000206301"	"CHAT"
"0000206302"	"CHAT"
"0000206303"	"CHAT"
"0000206304"	"CHAT"


## 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 = 142
"{{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}}"
"0000062381"	"1"	"10"	"10"	"50833493"	"50833493"	"subst"	"0.0224692"	"01164"	"CHAT_000048"	"g.50833493C>T"	""	""	""	""	""	"Germline"	""	"rs12257601"	"0"	""	""	"g.49625447C>T"	""	"benign"	""
"0000062383"	"1"	"50"	"10"	"50854706"	"50854706"	"subst"	"1.6275E-5"	"01164"	"CHAT_000042"	"g.50854706G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49646660G>A"	""	"VUS"	""
"0000062384"	"1"	"50"	"10"	"50870709"	"50870709"	"subst"	"0"	"01164"	"CHAT_000044"	"g.50870709A>C"	""	""	""	""	"Polyphen: possibly damaging"	"Germline"	""	""	"0"	""	""	"g.49662663A>C"	""	"VUS"	""
"0000062385"	"1"	"50"	"10"	"50827745"	"50827745"	"subst"	"0.000848269"	"01164"	"CHAT_000050"	"g.50827745C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49619699C>A"	""	"VUS"	""
"0000062386"	"1"	"10"	"10"	"50872912"	"50872912"	"subst"	"0.0316601"	"01164"	"CHAT_000045"	"g.50872912C>T"	""	""	""	""	""	"Germline"	""	"rs3793801"	"0"	""	""	"g.49664866C>T"	""	"benign"	""
"0000062387"	"1"	"10"	"10"	"50830171"	"50830171"	"subst"	"0.0471134"	"01164"	"CHAT_000047"	"g.50830171C>T"	""	""	""	""	""	"Germline"	""	"rs8178990"	"0"	""	""	"g.49622125C>T"	""	"benign"	""
"0000062388"	"1"	"90"	"10"	"50828719"	"50828719"	"subst"	"0"	"01164"	"CHAT_000049"	"g.50828719C>T"	""	""	""	""	""	"Germline"	""	"rs41306828"	"0"	""	""	"g.49620673C>T"	""	"pathogenic"	""
"0000062389"	"1"	"10"	"10"	"50854468"	"50854468"	"subst"	"0"	"01164"	"CHAT_000041"	"g.50854468G>T"	""	""	""	""	""	"Germline"	""	"rs7912483"	"0"	""	""	"g.49646422G>T"	""	"benign"	""
"0000062390"	"3"	"50"	"10"	"50830021"	"50830086"	"dup"	"0"	"01164"	"CHAT_000046"	"g.50830021_50830086dup"	""	""	""	""	"found homozygous in patient"	"Germline"	""	""	"0"	""	""	"g.49621975_49622040dup"	""	"VUS"	""
"0000194497"	"0"	"70"	"10"	"50854670"	"50854670"	"subst"	"2.03164E-5"	"01802"	"CHAT_000051"	"g.50854670G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49646624G>A"	""	"likely pathogenic"	""
"0000194498"	"0"	"70"	"10"	"50856571"	"50856571"	"subst"	"1.22062E-5"	"01802"	"CHAT_000052"	"g.50856571G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49648525G>A"	""	"likely pathogenic"	""
"0000194499"	"0"	"70"	"10"	"50857676"	"50857676"	"subst"	"0"	"01802"	"CHAT_000036"	"g.50857676T>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49649630T>C"	""	"likely pathogenic"	""
"0000266757"	"0"	"10"	"10"	"50856652"	"50856652"	"subst"	"0.991477"	"02325"	"CHAT_000055"	"g.50856652G>A"	""	""	""	"CHAT(NM_001142933.2):c.1135G>A (p.V379M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49648606G>A"	""	"benign"	""
"0000270075"	"0"	"30"	"10"	"50856643"	"50856643"	"subst"	"0.0039235"	"02326"	"CHAT_000054"	"g.50856643C>T"	""	""	""	"CHAT(NM_001142933.1):c.1126C>T (p.L376F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49648597C>T"	""	"likely benign"	""
"0000270076"	"0"	"30"	"10"	"50863188"	"50863188"	"subst"	"0.00756923"	"02326"	"CHAT_000056"	"g.50863188G>A"	""	""	""	"CHAT(NM_001142929.1):c.1328G>A (p.(Arg443Gln)), CHAT(NM_001142933.1):c.1436G>A (p.R479Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49655142G>A"	""	"likely benign"	""
"0000270077"	"0"	"30"	"10"	"50854574"	"50854574"	"subst"	"0.000605292"	"02326"	"CHAT_000053"	"g.50854574G>C"	""	""	""	"CHAT(NM_001142933.1):c.889G>C (p.D297H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49646528G>C"	""	"likely benign"	""
"0000338344"	"0"	"10"	"10"	"50822226"	"50822226"	"subst"	"0.992776"	"02327"	"CHAT_000058"	"g.50822226T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49614180T>G"	""	"benign"	""
"0000340216"	"0"	"10"	"10"	"50863147"	"50863147"	"subst"	"0.844605"	"02327"	"CHAT_000062"	"g.50863147T>C"	""	""	""	"CHAT(NM_001142933.2):c.1395T>C (p.H465=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49655101T>C"	""	"benign"	""
"0000341138"	"0"	"10"	"10"	"50824619"	"50824619"	"subst"	"0.207738"	"02327"	"CHAT_000003"	"g.50824619G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49616573G>A"	""	"benign"	""
"0000344083"	"0"	"50"	"10"	"50819978"	"50819978"	"subst"	"0"	"02327"	"CHAT_000057"	"g.50819978G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49611932G>C"	""	"VUS"	""
"0000347179"	"0"	"30"	"10"	"50856643"	"50856643"	"subst"	"0.0039235"	"02327"	"CHAT_000054"	"g.50856643C>T"	""	""	""	"CHAT(NM_001142933.1):c.1126C>T (p.L376F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49648597C>T"	""	"likely benign"	""
"0000350535"	"0"	"50"	"10"	"50856559"	"50856559"	"subst"	"2.03558E-5"	"02327"	"CHAT_000060"	"g.50856559G>A"	""	""	""	"CHAT(NM_001142933.2):c.1042G>A (p.V348M), CHAT(NM_020549.5):c.1288G>A (p.(Val430Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49648513G>A"	""	"VUS"	""
"0000408211"	"11"	"90"	"10"	"46949255"	"51780909"	"del"	"0"	"00006"	"SLC18A3_000002"	"g.(46500000_46949255)_(51780909_52000000)del"	""	"{PMID:O\'Grady 2016:27590285}"	""	"hg19 46,949,255–51,780,909del"	"4.83-Mb heterozygous deletion; no paternal DNA available"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000435690"	"1"	"90"	"10"	"50856592"	"50856592"	"subst"	"0"	"00006"	"CHAT_000005"	"g.50856592G>A"	""	"{PMID:Ohno 2001:11172068}"	""	"1371G>A"	""	"Germline"	""	""	"0"	""	""	"g.49648546G>A"	""	"pathogenic (recessive)"	""
"0000435691"	"1"	"90"	"10"	"50857615"	"50857615"	"subst"	"0"	"00006"	"CHAT_000001"	"g.50857615A>G"	""	"{PMID:Ohno 2001:11172068}"	""	"1444A>G"	""	"Germline"	""	"rs28929481"	"0"	""	""	"g.49649569A>G"	""	"pathogenic (recessive)"	""
"0000435695"	"1"	"90"	"10"	"50828590"	"50828590"	"subst"	"0.000129958"	"00006"	"CHAT_000002"	"g.50828590T>C"	""	"{PMID:Ohno 2001:11172068}"	""	""	""	"Germline"	""	"rs28930071"	"0"	""	""	"g.49620544T>C"	""	"pathogenic (recessive)"	""
"0000435697"	"1"	"90"	"10"	"50833680"	"50833680"	"subst"	"0"	"00006"	"CHAT_000010"	"g.50833680T>C"	""	"{PMID:Ohno 2001:11172068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49625634T>C"	""	"pathogenic (recessive)"	""
"0000435698"	"0"	"90"	"10"	"50824619"	"50824619"	"subst"	"0.207738"	"00006"	"CHAT_000003"	"g.50824619G>A"	""	"{PMID:Mubumbila 2002:12401548}"	""	""	""	"Germline"	""	"rs3810950"	"0"	""	""	"g.49616573G>A"	""	"pathogenic"	""
"0000435699"	"1"	"90"	"10"	"50863148"	"50863148"	"subst"	"1.62477E-5"	"00006"	"CHAT_000011"	"g.50863148C>T"	""	"{PMID:Maselli 2003:12548525}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655102C>T"	""	"pathogenic (recessive)"	""
"0000435701"	"1"	"90"	"10"	"50828541"	"50828541"	"subst"	"0"	"00006"	"CHAT_000013"	"g.50828541G>C"	""	"{PMID:Maselli 2003:12548525}"	""	"Val194Leu"	""	"Germline"	""	""	"0"	""	""	"g.49620495G>C"	""	"pathogenic (recessive)"	""
"0000435702"	"11"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Kraner 2003:12756141}, {PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"Tsp4CI+"	""	"not in 260 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435703"	"21"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Kraner 2003:12756141}, {PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"Tsp4CI+"	""	"not in 260 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435704"	"11"	"90"	"10"	"50835781"	"50835781"	"subst"	"1.62573E-5"	"00513"	"CHAT_000015"	"g.50835781C>T"	""	"{PMID:Barisic 2005:15701560}"	"TaiI+"	""	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627735C>T"	""	"pathogenic"	""
"0000435705"	"21"	"90"	"10"	"50872926"	"50872926"	"subst"	"0"	"00513"	"CHAT_000012"	"g.50872926C>G"	""	"{PMID:Barisic 2005:15701560}"	"BfaI+"	""	""	"Germline"	""	""	"0"	""	""	"g.49664880C>G"	""	"pathogenic"	""
"0000435706"	"1"	"90"	"10"	"50863164"	"50863164"	"subst"	"0"	"00006"	"CHAT_000016"	"g.50863164C>A"	""	"{PMID:Yeung 2009:18797171}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655118C>A"	""	"pathogenic (recessive)"	""
"0000435707"	"1"	"90"	"10"	"50828590"	"50828590"	"subst"	"0.000129958"	"00006"	"CHAT_000002"	"g.50828590T>C"	""	"{PMID:Maselli 2003:12548525}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49620544T>C"	""	"pathogenic (recessive)"	""
"0000435708"	"0"	"90"	"10"	"50863235"	"50863235"	"subst"	"0"	"00006"	"CHAT_000018"	"g.50863235G>A"	""	"{PMID:Mallory 2009:19520274}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655189G>A"	""	"pathogenic"	""
"0000435709"	"1"	"90"	"10"	"50827905"	"50827906"	"dup"	"0"	"00006"	"CHAT_000064"	"g.50827905_50827906dup"	""	"{PMID:Ohno 2001:11172068}"	""	"523insCC"	"no RNA expression"	"Germline"	""	""	"0"	""	""	"g.49619859_49619860dup"	""	"pathogenic"	""
"0000435710"	"11"	"90"	"10"	"50854701"	"50854701"	"subst"	"0"	"00507"	"CHAT_000019"	"g.50854701G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49646655G>C"	""	"pathogenic"	""
"0000435711"	"21"	"90"	"10"	"50870742"	"50870742"	"subst"	"0"	"00507"	"CHAT_000020"	"g.50870742G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49662696G>A"	""	"pathogenic"	""
"0000435712"	"11"	"90"	"10"	"50863221"	"50863221"	"subst"	"0"	"00507"	"CHAT_000021"	"g.50863221C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655175C>G"	""	"pathogenic"	""
"0000435713"	"21"	"90"	"10"	"50827789"	"50827789"	"subst"	"4.08137E-5"	"00507"	"CHAT_000022"	"g.50827789G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49619743G>A"	""	"pathogenic"	""
"0000435714"	"11"	"90"	"10"	"50857663"	"50857663"	"subst"	"0"	"00507"	"CHAT_000023"	"g.50857663T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49649617T>C"	""	"pathogenic"	""
"0000435715"	"21"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435716"	"11"	"90"	"10"	"50863478"	"50863478"	"subst"	"1.21867E-5"	"00507"	"CHAT_000025"	"g.50863478C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655432C>A"	""	"pathogenic"	""
"0000435717"	"21"	"90"	"10"	"50830147"	"50830147"	"subst"	"4.06438E-6"	"00507"	"CHAT_000026"	"g.50830147G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49622101G>A"	""	"pathogenic"	""
"0000435718"	"11"	"90"	"10"	"50828566"	"50828566"	"subst"	"5.6868E-5"	"00507"	"CHAT_000027"	"g.50828566T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49620520T>G"	""	"pathogenic"	""
"0000435719"	"21"	"90"	"10"	"50827789"	"50827789"	"subst"	"4.08137E-5"	"00507"	"CHAT_000022"	"g.50827789G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49619743G>A"	""	"pathogenic"	""
"0000435720"	"11"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435721"	"21"	"90"	"10"	"50863169"	"50863169"	"subst"	"1.21861E-5"	"00507"	"CHAT_000028"	"g.50863169G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655123G>T"	""	"pathogenic"	""
"0000435722"	"3"	"90"	"10"	"50872911"	"50872911"	"subst"	"0"	"00507"	"CHAT_000029"	"g.50872911T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49664865T>G"	""	"pathogenic"	""
"0000435723"	"11"	"90"	"10"	"50863140"	"50863283"	"del"	"0"	"00507"	"CHAT_000063"	"g.(50860053_50863140)_(50863283_50863431)del"	""	""	""	"1635-?_1776+?del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000435724"	"21"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435725"	"11"	"90"	"10"	"50863164"	"50863164"	"subst"	"0"	"00507"	"CHAT_000016"	"g.50863164C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655118C>A"	""	"pathogenic"	""
"0000435726"	"21"	"90"	"10"	"50872955"	"50872955"	"subst"	"0"	"00507"	"CHAT_000017"	"g.50872955T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49664909T>C"	""	"pathogenic"	""
"0000435727"	"11"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435728"	"21"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435729"	"11"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435730"	"21"	"90"	"10"	"50827789"	"50827789"	"subst"	"4.08137E-5"	"00507"	"CHAT_000022"	"g.50827789G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49619743G>A"	""	"pathogenic"	""
"0000435731"	"11"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00507"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435732"	"21"	"90"	"10"	"50827789"	"50827789"	"subst"	"4.08137E-5"	"00507"	"CHAT_000022"	"g.50827789G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49619743G>A"	""	"pathogenic"	""
"0000435733"	"1"	"90"	"10"	"50859934"	"50859934"	"subst"	"0"	"00513"	"CHAT_000007"	"g.50859934G>T"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49651888G>T"	""	"pathogenic"	""
"0000435734"	"2"	"90"	"10"	"50863163"	"50863165"	"dup"	"0"	"00513"	"CHAT_000030"	"g.50863163_50863165dup"	""	"{PMID:Schara 2010:19900826}"	""	"1657_1659dupACC"	""	"Germline"	""	""	"0"	""	""	"g.49655117_49655119dup"	""	"pathogenic"	""
"0000435735"	"1"	"90"	"10"	"50872911"	"50872911"	"subst"	"0"	"00513"	"CHAT_000029"	"g.50872911T>G"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49664865T>G"	""	"pathogenic"	""
"0000435736"	"2"	"90"	"10"	"50828639"	"50828645"	"del"	"0"	"00513"	"CHAT_000031"	"g.50828639_50828645del"	""	"{PMID:Schara 2010:19900826}"	""	"678_684delTGGCACC"	""	"Germline"	""	""	"0"	""	""	"g.49620593_49620599del"	""	"pathogenic"	""
"0000435737"	"1"	"90"	"10"	"50854688"	"50854688"	"subst"	"0"	"00513"	"CHAT_000032"	"g.50854688G>A"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49646642G>A"	""	"pathogenic"	""
"0000435738"	"2"	"90"	"10"	"50854688"	"50854688"	"subst"	"0"	"00513"	"CHAT_000032"	"g.50854688G>A"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49646642G>A"	""	"pathogenic"	""
"0000435739"	"1"	"90"	"10"	"50857615"	"50857615"	"subst"	"0"	"00513"	"CHAT_000001"	"g.50857615A>G"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	"rs28929481"	"0"	""	""	"g.49649569A>G"	""	"pathogenic"	""
"0000435740"	"2"	"90"	"10"	"50857615"	"50857615"	"subst"	"0"	"00513"	"CHAT_000001"	"g.50857615A>G"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	"rs28929481"	"0"	""	""	"g.49649569A>G"	""	"pathogenic"	""
"0000435741"	"11"	"90"	"10"	"50835781"	"50835781"	"subst"	"1.62573E-5"	"00513"	"CHAT_000015"	"g.50835781C>T"	""	"{PMID:Barisic 2005:15701560}"	"TaiI+"	""	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627735C>T"	""	"pathogenic"	""
"0000435742"	"21"	"90"	"10"	"50872926"	"50872926"	"subst"	"0"	"00513"	"CHAT_000012"	"g.50872926C>G"	""	"{PMID:Barisic 2005:15701560}"	"BfaI+"	""	""	"Germline"	""	""	"0"	""	""	"g.49664880C>G"	""	"pathogenic"	""
"0000435743"	"1"	"90"	"10"	"50857664"	"50857664"	"subst"	"1.63574E-5"	"00513"	"CHAT_000006"	"g.50857664C>T"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49649618C>T"	""	"pathogenic"	""
"0000435744"	"2"	"90"	"10"	"50828590"	"50828590"	"subst"	"0.000129958"	"00513"	"CHAT_000002"	"g.50828590T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	"rs28930071"	"0"	""	""	"g.49620544T>C"	""	"pathogenic"	""
"0000435745"	"1"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435746"	"2"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435747"	"1"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435748"	"2"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435749"	"11"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Kraner 2003:12756141}, {PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"Tsp4CI+"	""	"not in 260 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435750"	"21"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Kraner 2003:12756141}, {PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"Tsp4CI+"	""	"not in 260 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435751"	"11"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"Tsp4CI+"	""	"not in 260 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435752"	"21"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schmidt 2003:12609506}, {PMID:Schara 2010:19900826}"	"Tsp4CI+"	""	"not in 260 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435753"	"1"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435754"	"2"	"90"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00513"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Schara 2010:19900826}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	""	"pathogenic"	""
"0000435755"	"1"	"90"	"10"	"50827789"	"50827789"	"subst"	"4.08137E-5"	"00513"	"CHAT_000022"	"g.50827789G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49619743G>A"	""	"pathogenic"	""
"0000435756"	"2"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"00513"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic"	""
"0000435757"	"1"	"90"	"10"	"50856592"	"50856592"	"subst"	"0"	"00513"	"CHAT_000005"	"g.50856592G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49648546G>A"	""	"pathogenic"	""
"0000435758"	"2"	"90"	"10"	"50859934"	"50859934"	"subst"	"0"	"00513"	"CHAT_000007"	"g.50859934G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49651888G>T"	""	"pathogenic"	""
"0000435759"	"3"	"50"	"10"	"50828580"	"50828580"	"subst"	"0"	"00464"	"CHAT_000033"	"g.50828580C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49620534C>G"	""	"VUS"	""
"0000435760"	"3"	"90"	"10"	"50872911"	"50872911"	"subst"	"0"	"00464"	"CHAT_000029"	"g.50872911T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49664865T>G"	""	"pathogenic"	""
"0000435761"	"1"	"70"	"10"	"50828581"	"50828581"	"subst"	"1.21852E-5"	"00464"	"CHAT_000034"	"g.50828581G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49620535G>A"	""	"likely pathogenic"	""
"0000435762"	"2"	"70"	"10"	"50835822"	"50835822"	"subst"	"0"	"00464"	"CHAT_000035"	"g.50835822C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49627776C>G"	""	"likely pathogenic"	""
"0000435982"	"2"	"90"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"01164"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655129G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000435983"	"2"	"90"	"10"	"50828592"	"50828592"	"subst"	"0"	"00006"	"CHAT_000009"	"g.50828592C>G"	""	"{PMID:Ohno 2001:11172068}"	""	"931C>G"	""	"Germline"	""	""	"0"	""	""	"g.49620546C>G"	""	"pathogenic (recessive)"	""
"0000435984"	"2"	"90"	"10"	"50859934"	"50859934"	"subst"	"0"	"00006"	"CHAT_000007"	"g.50859934G>T"	""	"{PMID:Ohno 2001:11172068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49651888G>T"	""	"pathogenic (recessive)"	""
"0000435985"	"2"	"90"	"10"	"50863185"	"50863185"	"subst"	"8.93844E-5"	"00006"	"CHAT_000008"	"g.50863185G>A"	""	"{PMID:Ohno 2001:11172068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49655139G>A"	""	"pathogenic (recessive)"	""
"0000435986"	"2"	"90"	"10"	"50857664"	"50857664"	"subst"	"1.63574E-5"	"00006"	"CHAT_000006"	"g.50857664C>T"	""	"{PMID:Ohno 2001:11172068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49649618C>T"	""	"pathogenic (recessive)"	""
"0000435987"	"2"	"90"	"10"	"50854697"	"50854697"	"subst"	"0"	"00006"	"CHAT_000004"	"g.50854697C>T"	""	"{PMID:Ohno 2001:11172068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49646651C>T"	""	"pathogenic (recessive)"	""
"0000435988"	"2"	"90"	"10"	"50872926"	"50872926"	"subst"	"0"	"00006"	"CHAT_000012"	"g.50872926C>G"	""	"{PMID:Maselli 2003:12548525}"	""	"2081C>T (S694C)"	""	"Germline"	""	""	"0"	""	""	"g.49664880C>G"	""	"pathogenic (recessive)"	""
"0000435989"	"2"	"90"	"10"	"50859934"	"50859934"	"subst"	"0"	"00006"	"CHAT_000007"	"g.50859934G>T"	""	"{PMID:Maselli 2003:12548525}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49651888G>T"	""	"pathogenic (recessive)"	""
"0000435990"	"2"	"90"	"10"	"50872955"	"50872955"	"subst"	"0"	"00006"	"CHAT_000017"	"g.50872955T>C"	""	"{PMID:Yeung 2009:18797171}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49664909T>C"	""	"pathogenic (recessive)"	""
"0000435991"	"2"	"90"	"10"	"50828592"	"50828592"	"subst"	"0"	"00006"	"CHAT_000009"	"g.50828592C>G"	""	"{PMID:Maselli 2003:12548525}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49620546C>G"	""	"pathogenic (recessive)"	""
"0000539983"	"0"	"50"	"10"	"50835781"	"50835781"	"subst"	"1.62573E-5"	"02327"	"CHAT_000015"	"g.50835781C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49627735C>T"	""	"VUS"	""
"0000539985"	"0"	"50"	"10"	"50857631"	"50857631"	"subst"	"3.67884E-5"	"01943"	"CHAT_000067"	"g.50857631G>T"	""	""	""	"CHAT(NM_001142933.1):c.1214G>T (p.C405F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49649585G>T"	""	"VUS"	""
"0000539986"	"0"	"10"	"10"	"50863147"	"50863147"	"subst"	"0.844605"	"02325"	"CHAT_000062"	"g.50863147T>C"	""	""	""	"CHAT(NM_001142933.2):c.1395T>C (p.H465=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49655101T>C"	""	"benign"	""
"0000539987"	"0"	"50"	"10"	"50863185"	"50863185"	"subst"	"8.93844E-5"	"02327"	"CHAT_000008"	"g.50863185G>A"	""	""	""	"CHAT(NM_001142933.1):c.1433G>A (p.R478H), CHAT(NM_020549.5):c.1679G>A (p.R560H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49655139G>A"	""	"VUS"	""
"0000539988"	"0"	"30"	"10"	"50863188"	"50863188"	"subst"	"0.00756923"	"01804"	"CHAT_000056"	"g.50863188G>A"	""	""	""	"CHAT(NM_001142929.1):c.1328G>A (p.(Arg443Gln)), CHAT(NM_001142933.1):c.1436G>A (p.R479Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49655142G>A"	""	"likely benign"	""
"0000612484"	"0"	"50"	"10"	"50819949"	"50819949"	"subst"	"4.09537E-6"	"02325"	"CHAT_000068"	"g.50819949G>A"	""	""	""	"SLC18A3(NM_003055.3):c.1163G>A (p.C388Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49611903G>A"	""	"VUS"	""
"0000647907"	"1"	"90"	"10"	"50827801"	"50827801"	"subst"	"0"	"03575"	"CHAT_000071"	"g.50827801C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794727516}"	"Germline"	""	"rs794727516"	"0"	""	""	"g.49619755C>T"	""	"pathogenic"	""
"0000647908"	"1"	"10"	"10"	"50830171"	"50830171"	"subst"	"0.0471134"	"03575"	"CHAT_000047"	"g.50830171C>T"	"74/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"74 heterozygous; {DB:CLININrs8178990}"	"Germline"	""	"rs8178990"	"0"	""	""	"g.49622125C>T"	""	"benign"	""
"0000647909"	"1"	"30"	"10"	"50854637"	"50854637"	"subst"	"0.013211"	"03575"	"CHAT_000072"	"g.50854637G>A"	"28/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"28 heterozygous, no homozygous; {DB:CLININrs8178991}"	"Germline"	""	"rs8178991"	"0"	""	""	"g.49646591G>A"	""	"likely benign"	""
"0000647910"	"1"	"30"	"10"	"50856643"	"50856643"	"subst"	"0.0039235"	"03575"	"CHAT_000054"	"g.50856643C>T"	"2/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs76014951}"	"Germline"	""	"rs76014951"	"0"	""	""	"g.49648597C>T"	""	"likely benign"	""
"0000669061"	"3"	"10"	"10"	"50830171"	"50830171"	"subst"	"0.0471134"	"03575"	"CHAT_000047"	"g.50830171C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs8178990}"	"Germline"	""	"rs8178990"	"0"	""	""	"g.49622125C>T"	""	"benign"	""
"0000722832"	"0"	"30"	"10"	"50830155"	"50830155"	"subst"	"0.00379499"	"01804"	"CHAT_000073"	"g.50830155C>G"	""	""	""	"CHAT(NM_001142929.1):c.357C>G (p.(Ser119Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722833"	"0"	"70"	"10"	"50833616"	"50833616"	"subst"	"5.81265E-5"	"02329"	"CHAT_000066"	"g.50833616G>A"	""	""	""	"CHAT(NM_001142933.2):c.604G>A (p.G202S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000722834"	"0"	"70"	"10"	"50856559"	"50856559"	"subst"	"2.03558E-5"	"02329"	"CHAT_000060"	"g.50856559G>A"	""	""	""	"CHAT(NM_001142933.2):c.1042G>A (p.V348M), CHAT(NM_020549.5):c.1288G>A (p.(Val430Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000804443"	"0"	"50"	"10"	"50863185"	"50863185"	"subst"	"8.93844E-5"	"02325"	"CHAT_000008"	"g.50863185G>A"	""	""	""	"CHAT(NM_001142933.1):c.1433G>A (p.R478H), CHAT(NM_020549.5):c.1679G>A (p.R560H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804444"	"0"	"50"	"10"	"50863185"	"50863185"	"subst"	"8.93844E-5"	"02329"	"CHAT_000008"	"g.50863185G>A"	""	""	""	"CHAT(NM_001142933.1):c.1433G>A (p.R478H), CHAT(NM_020549.5):c.1679G>A (p.R560H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000819277"	"0"	"50"	"10"	"50873067"	"50873067"	"subst"	"0.000341441"	"00006"	"CHAT_000074"	"g.50873067G>A"	""	"{PMID:Chakravorty 2020:33250842}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000844681"	"0"	"70"	"10"	"50863175"	"50863175"	"subst"	"5.28245E-5"	"04292"	"CHAT_000024"	"g.50863175G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000844682"	"0"	"70"	"10"	"50854706"	"50854706"	"subst"	"1.6275E-5"	"04292"	"CHAT_000042"	"g.50854706G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000861919"	"0"	"30"	"10"	"50873022"	"50873022"	"subst"	"0.00118985"	"02326"	"CHAT_000075"	"g.50873022C>T"	""	""	""	"CHAT(NM_001142933.1):c.1931C>T (p.P644L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889152"	"0"	"10"	"10"	"50822376"	"50822376"	"subst"	"0.0644979"	"02327"	"CHAT_000076"	"g.50822376C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000889153"	"0"	"30"	"10"	"50824106"	"50824106"	"subst"	"0.00941417"	"01804"	"CHAT_000077"	"g.50824106C>T"	""	""	""	"CHAT(NM_001142929.1):c.-68-442C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000909216"	"1"	"70"	"10"	"50824618"	"50824618"	"subst"	"0"	"00006"	"CHAT_000078"	"g.50824618G>A"	""	"{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49616572G>A"	""	"likely pathogenic (recessive)"	""
"0000909217"	"1"	"70"	"10"	"50824618"	"50824618"	"subst"	"0"	"00006"	"CHAT_000078"	"g.50824618G>A"	""	"{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49616572G>A"	""	"likely pathogenic (recessive)"	""
"0000909239"	"2"	"50"	"10"	"50833607"	"50833607"	"subst"	"2.05805E-5"	"00006"	"CHAT_000079"	"g.50833607C>T"	""	"{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49625561C>T"	""	"VUS"	""
"0000909240"	"2"	"50"	"10"	"50833607"	"50833607"	"subst"	"2.05805E-5"	"00006"	"CHAT_000079"	"g.50833607C>T"	""	"{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49625561C>T"	""	"VUS"	""
"0000935134"	"21"	"50"	"10"	"46910250"	"51248636"	"dup"	"0"	"00006"	"CHAT_000080"	"g.46910250_51248636dup"	""	"{PMID:Erbe 2023:37834164}"	""	""	"4.3Mb duplication incl. CHAT, SLC18A3"	"Germline"	""	""	"0"	""	""	"g.45702207_50040591dup"	""	"VUS"	""
"0000946135"	"3"	"50"	"10"	"50856559"	"50856559"	"subst"	"2.03558E-5"	"00006"	"CHAT_000060"	"g.50856559G>A"	""	"{PMID:Westra 2019:31127727}"	""	""	"rec (comp het); functional studies needed"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.49648513G>A"	""	"VUS"	""
"0000965735"	"0"	"70"	"10"	"50819178"	"50819178"	"subst"	"8.12724E-6"	"02327"	"CHAT_000081"	"g.50819178A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000965736"	"0"	"90"	"10"	"50819875"	"50819875"	"del"	"0"	"02327"	"CHAT_000082"	"g.50819875del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979054"	"0"	"10"	"10"	"50830171"	"50830171"	"subst"	"0.0471134"	"01804"	"CHAT_000047"	"g.50830171C>T"	""	""	""	"CHAT(NM_020549.5):c.727C>T (p.(Leu243Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000979055"	"0"	"30"	"10"	"50854687"	"50854687"	"subst"	"0.0014509"	"01804"	"CHAT_000084"	"g.50854687C>T"	""	""	""	"CHAT(NM_020549.5):c.1248C>T (p.(Asn416=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037910"	"0"	"30"	"10"	"50820370"	"50820370"	"subst"	"0.0145246"	"01804"	"CHAT_000085"	"g.50820370C>T"	""	""	""	"SLC18A3(NM_003055.3):c.1584C>T (p.(Tyr528=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037911"	"0"	"30"	"10"	"50827797"	"50827797"	"subst"	"0"	"01804"	"CHAT_000086"	"g.50827797G>C"	""	""	""	"CHAT(NM_020549.5):c.414G>C (p.(Pro138=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037912"	"0"	"30"	"10"	"50854637"	"50854637"	"subst"	"0.013211"	"01804"	"CHAT_000072"	"g.50854637G>A"	""	""	""	"CHAT(NM_020549.5):c.1198G>A (p.(Asp400Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037913"	"0"	"30"	"10"	"50870734"	"50870734"	"subst"	"0.00033705"	"02326"	"CHAT_000087"	"g.50870734G>A"	""	""	""	"CHAT(NM_001142933.1):c.1637G>A (p.R546Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001053542"	"0"	"10"	"10"	"50818874"	"50818874"	"subst"	"0.0050889"	"01804"	"CHAT_000088"	"g.50818874C>A"	""	""	""	"SLC18A3(NM_003055.3):c.88C>A (p.(Arg30=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001053543"	"0"	"50"	"10"	"50819807"	"50819807"	"subst"	"0"	"01804"	"CHAT_000089"	"g.50819807G>C"	""	""	""	"SLC18A3(NM_003055.3):c.1021G>C (p.(Gly341Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053544"	"0"	"50"	"10"	"50856559"	"50856559"	"subst"	"2.03558E-5"	"01804"	"CHAT_000060"	"g.50856559G>A"	""	""	""	"CHAT(NM_001142933.2):c.1042G>A (p.V348M), CHAT(NM_020549.5):c.1288G>A (p.(Val430Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053545"	"0"	"50"	"10"	"50857597"	"50857597"	"subst"	"2.04374E-5"	"01804"	"CHAT_000090"	"g.50857597G>A"	""	""	""	"CHAT(NM_020549.5):c.1426G>A (p.(Glu476Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001069714"	"3"	"70"	"10"	"50835727"	"50835727"	"subst"	"4.06171E-6"	"00006"	"CHAT_000014"	"g.50835727T>C"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PS4, PM2, PP3, PM3"	"Germline"	""	""	"0"	""	""	"g.49627681T>C"	"SCV001755129"	"likely pathogenic"	"ACMG"


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CHAT
## Count = 142
"{{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}}"
"0000062381"	"00005068"	"10"	"753"	"-26"	"753"	"-26"	"c.753-26C>T"	"r.(=)"	"p.(=)"	""
"0000062383"	"00005068"	"50"	"1267"	"0"	"1267"	"0"	"c.1267G>A"	"r.(?)"	"p.(Asp423Asn)"	"8"
"0000062384"	"00005068"	"50"	"1858"	"0"	"1858"	"0"	"c.1858A>C"	"r.(?)"	"p.(Ile620Leu)"	""
"0000062385"	"00005068"	"50"	"388"	"-26"	"388"	"-26"	"c.388-26C>A"	"r.(=)"	"p.(=)"	""
"0000062386"	"00005068"	"10"	"2067"	"0"	"2067"	"0"	"c.2067C>T"	"r.(=)"	"p.(=)"	""
"0000062387"	"00005068"	"10"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Leu243Phe)"	""
"0000062388"	"00005068"	"90"	"698"	"60"	"698"	"60"	"c.698+60C>T"	"r.(=)"	"p.(=)"	""
"0000062389"	"00005068"	"10"	"1112"	"-83"	"1112"	"-83"	"c.1112-83G>T"	"r.(=)"	"p.(=)"	""
"0000062390"	"00005068"	"50"	"699"	"-122"	"699"	"-57"	"c.699-122_699-57dup"	"r.(?)"	"p.(=)"	""
"0000194497"	"00005068"	"70"	"1231"	"0"	"1231"	"0"	"c.1231G>A"	"r.(?)"	"p.(Gly411Arg)"	"7"
"0000194498"	"00005068"	"70"	"1300"	"0"	"1300"	"0"	"c.1300G>A"	"r.(?)"	"p.(Gly434Ser)"	"7"
"0000194499"	"00005068"	"70"	"1505"	"0"	"1505"	"0"	"c.1505T>C"	"r.(?)"	"p.(Leu502Pro)"	"11"
"0000266757"	"00005068"	"10"	"1381"	"0"	"1381"	"0"	"c.1381="	"r.(=)"	"p.(Met461=)"	""
"0000270075"	"00005068"	"30"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Leu458Phe)"	""
"0000270076"	"00005068"	"30"	"1682"	"0"	"1682"	"0"	"c.1682G>A"	"r.(?)"	"p.(Arg561Gln)"	""
"0000270077"	"00005068"	"30"	"1135"	"0"	"1135"	"0"	"c.1135G>C"	"r.(?)"	"p.(Asp379His)"	""
"0000338344"	"00005068"	"10"	"-10"	"0"	"-10"	"0"	"c.-10T>G"	"r.(?)"	"p.(=)"	""
"0000340216"	"00005068"	"10"	"1641"	"0"	"1641"	"0"	"c.1641T>C"	"r.(?)"	"p.(His547=)"	""
"0000341138"	"00005068"	"10"	"358"	"0"	"358"	"0"	"c.358G>A"	"r.(?)"	"p.(Ala120Thr)"	""
"0000344083"	"00005068"	"50"	"-2258"	"0"	"-2258"	"0"	"c.-2258G>C"	"r.(?)"	"p.(=)"	""
"0000347179"	"00005068"	"30"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Leu458Phe)"	""
"0000350535"	"00005068"	"50"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Val430Met)"	""
"0000408211"	"00005068"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000435690"	"00005068"	"90"	"1321"	"0"	"1321"	"0"	"c.1321G>A"	"r.(?)"	"p.(Glu441Lys)"	"9"
"0000435691"	"00005068"	"90"	"1444"	"0"	"1444"	"0"	"c.1444A>G"	"r.(?)"	"p.(Arg482Gly)"	"10"
"0000435695"	"00005068"	"90"	"629"	"0"	"629"	"0"	"c.629T>C"	"r.(?)"	"p.(Leu210Pro)"	"4"
"0000435697"	"00005068"	"90"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.(Ile305Thr)"	"6"
"0000435698"	"00005068"	"90"	"358"	"0"	"358"	"0"	"c.358G>A"	"r.(?)"	"p.(?)"	"2"
"0000435699"	"00005068"	"90"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Arg548*)"	"12"
"0000435701"	"00005068"	"90"	"580"	"0"	"580"	"0"	"c.580G>C"	"r.spl?"	"p.(Val194Leu)"	"4"
"0000435702"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435703"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435704"	"00005068"	"90"	"1061"	"0"	"1061"	"0"	"c.1061C>T"	"r.(?)"	"p.(Thr354Met)"	"7"
"0000435705"	"00005068"	"90"	"2081"	"0"	"2081"	"0"	"c.2081C>G"	"r.(?)"	"p.(Ser694Cys)"	"15"
"0000435706"	"00005068"	"90"	"1658"	"0"	"1658"	"0"	"c.1658C>A"	"r.(?)"	"p.(Thr553Asn)"	"12"
"0000435707"	"00005068"	"90"	"629"	"0"	"629"	"0"	"c.629T>C"	"r.(?)"	"p.(Leu210Pro)"	"4"
"0000435708"	"00005068"	"90"	"1729"	"0"	"1729"	"0"	"c.1729G>A"	"r.(?)"	"p.(?)"	"12"
"0000435709"	"00005068"	"90"	"522"	"0"	"523"	"0"	"c.522_523dup"	"r.0"	"p.0"	"3"
"0000435710"	"00005068"	"90"	"1262"	"0"	"1262"	"0"	"c.1262G>C"	"r.(?)"	"p.(Trp421Ser)"	"8"
"0000435711"	"00005068"	"90"	"1891"	"0"	"1891"	"0"	"c.1891G>A"	"r.(?)"	"p.(Ala631Thr)"	"14"
"0000435712"	"00005068"	"90"	"1715"	"0"	"1715"	"0"	"c.1715C>G"	"r.(?)"	"p.(Ser572Trp)"	"12"
"0000435713"	"00005068"	"90"	"406"	"0"	"406"	"0"	"c.406G>A"	"r.(?)"	"p.(Val136Met)"	"3"
"0000435714"	"00005068"	"90"	"1492"	"0"	"1492"	"0"	"c.1492T>C"	"r.(?)"	"p.(Ser498Pro)"	"10"
"0000435715"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435716"	"00005068"	"90"	"1823"	"0"	"1823"	"0"	"c.1823C>A"	"r.(?)"	"p.(Thr608Asn)"	"13"
"0000435717"	"00005068"	"90"	"703"	"0"	"703"	"0"	"c.703G>A"	"r.(?)"	"p.(Ala235Thr)"	"5"
"0000435718"	"00005068"	"90"	"605"	"0"	"605"	"0"	"c.605T>G"	"r.(?)"	"p.(Met202Arg)"	"4"
"0000435719"	"00005068"	"90"	"406"	"0"	"406"	"0"	"c.406G>A"	"r.(?)"	"p.(Val136Met)"	"3"
"0000435720"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435721"	"00005068"	"90"	"1663"	"0"	"1663"	"0"	"c.1663G>T"	"r.(?)"	"p.(Glu555*)"	"12"
"0000435722"	"00005068"	"90"	"2066"	"0"	"2066"	"0"	"c.2066T>G"	"r.(?)"	"p.(Ile689Ser)"	"15"
"0000435723"	"00005068"	"90"	"1635"	"-1"	"1776"	"1"	"c.(1634+1_1635-1)_(1776+1_1777-1)del"	"r.?"	"p.?"	"11i_12i"
"0000435724"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435725"	"00005068"	"90"	"1658"	"0"	"1658"	"0"	"c.1658C>A"	"r.(?)"	"p.(Thr553Asn)"	"12"
"0000435726"	"00005068"	"90"	"2110"	"0"	"2110"	"0"	"c.2110T>C"	"r.(?)"	"p.(Ser704Pro)"	"15"
"0000435727"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435728"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435729"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435730"	"00005068"	"90"	"406"	"0"	"406"	"0"	"c.406G>A"	"r.(?)"	"p.(Val136Met)"	"3"
"0000435731"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435732"	"00005068"	"90"	"406"	"0"	"406"	"0"	"c.406G>A"	"r.(?)"	"p.(Val136Met)"	"3"
"0000435733"	"00005068"	"90"	"1516"	"0"	"1516"	"0"	"c.1516G>T"	"r.(?)"	"p.(Val506Leu)"	"11"
"0000435734"	"00005068"	"90"	"1657"	"0"	"1659"	"0"	"c.1657_1659dup"	"r.(?)"	"p.(Thr553dup)"	"12"
"0000435735"	"00005068"	"90"	"2066"	"0"	"2066"	"0"	"c.2066T>G"	"r.(?)"	"p.(Ile689Ser)"	"15"
"0000435736"	"00005068"	"90"	"678"	"0"	"684"	"0"	"c.678_684del"	"r.(?)"	"p.(Gly227Metfs*4)"	"4"
"0000435737"	"00005068"	"90"	"1249"	"0"	"1249"	"0"	"c.1249G>A"	"r.(?)"	"p.(Gly417Arg)"	"8"
"0000435738"	"00005068"	"90"	"1249"	"0"	"1249"	"0"	"c.1249G>A"	"r.(?)"	"p.(Gly417Arg)"	"8"
"0000435739"	"00005068"	"90"	"1444"	"0"	"1444"	"0"	"c.1444A>G"	"r.(?)"	"p.(Arg482Gly)"	"10"
"0000435740"	"00005068"	"90"	"1444"	"0"	"1444"	"0"	"c.1444A>G"	"r.(?)"	"p.(Arg482Gly)"	"10"
"0000435741"	"00005068"	"90"	"1061"	"0"	"1061"	"0"	"c.1061C>T"	"r.(?)"	"p.(Thr354Met)"	"7"
"0000435742"	"00005068"	"90"	"2081"	"0"	"2081"	"0"	"c.2081C>G"	"r.(?)"	"p.(Ser694Cys)"	"15"
"0000435743"	"00005068"	"90"	"1493"	"0"	"1493"	"0"	"c.1493C>T"	"r.(?)"	"p.(Ser498Leu)"	"10"
"0000435744"	"00005068"	"90"	"629"	"0"	"629"	"0"	"c.629T>C"	"r.(?)"	"p.(Leu210Pro)"	"4"
"0000435745"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435746"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435747"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435748"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435749"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435750"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435751"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435752"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435753"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435754"	"00005068"	"90"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	"7"
"0000435755"	"00005068"	"90"	"406"	"0"	"406"	"0"	"c.406G>A"	"r.(?)"	"p.(Val136Met)"	"3"
"0000435756"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435757"	"00005068"	"90"	"1321"	"0"	"1321"	"0"	"c.1321G>A"	"r.(?)"	"p.(Glu441Lys)"	"9"
"0000435758"	"00005068"	"90"	"1516"	"0"	"1516"	"0"	"c.1516G>T"	"r.(?)"	"p.(Val506Leu)"	"11"
"0000435759"	"00005068"	"50"	"619"	"0"	"619"	"0"	"c.619C>G"	"r.(?)"	"p.(Arg207Gly)"	"4"
"0000435760"	"00005068"	"90"	"2066"	"0"	"2066"	"0"	"c.2066T>G"	"r.(?)"	"p.(Ile689Ser)"	"15"
"0000435761"	"00005068"	"70"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.(?)"	"p.(Arg207His)"	"4"
"0000435762"	"00005068"	"70"	"1102"	"0"	"1102"	"0"	"c.1102C>G"	"r.(?)"	"p.(Leu368Val)"	"7"
"0000435982"	"00005068"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	"12"
"0000435983"	"00005068"	"90"	"631"	"0"	"631"	"0"	"c.631C>G"	"r.(?)"	"p.(Pro211Ala)"	"4"
"0000435984"	"00005068"	"90"	"1516"	"0"	"1516"	"0"	"c.1516G>T"	"r.(?)"	"p.(Val506Leu)"	"11"
"0000435985"	"00005068"	"90"	"1679"	"0"	"1679"	"0"	"c.1679G>A"	"r.(?)"	"p.(Arg560His)"	"12"
"0000435986"	"00005068"	"90"	"1493"	"0"	"1493"	"0"	"c.1493C>T"	"r.(?)"	"p.(Ser498Leu)"	"10"
"0000435987"	"00005068"	"90"	"1258"	"0"	"1258"	"0"	"c.1258C>T"	"r.(?)"	"p.(Arg420Cys)"	"8"
"0000435988"	"00005068"	"90"	"2081"	"0"	"2081"	"0"	"c.2081C>G"	"r.(?)"	"p.(Ser694Cys)"	"15"
"0000435989"	"00005068"	"90"	"1516"	"0"	"1516"	"0"	"c.1516G>T"	"r.(?)"	"p.(Val506Leu)"	"11"
"0000435990"	"00005068"	"90"	"2110"	"0"	"2110"	"0"	"c.2110T>C"	"r.(?)"	"p.(Ser704Pro)"	"4"
"0000435991"	"00005068"	"90"	"631"	"0"	"631"	"0"	"c.631C>G"	"r.(?)"	"p.(Pro211Ala)"	"4"
"0000539983"	"00005068"	"50"	"1061"	"0"	"1061"	"0"	"c.1061C>T"	"r.(?)"	"p.(Thr354Met)"	""
"0000539985"	"00005068"	"50"	"1460"	"0"	"1460"	"0"	"c.1460G>T"	"r.(?)"	"p.(Cys487Phe)"	""
"0000539986"	"00005068"	"10"	"1641"	"0"	"1641"	"0"	"c.1641T>C"	"r.(?)"	"p.(His547=)"	""
"0000539987"	"00005068"	"50"	"1679"	"0"	"1679"	"0"	"c.1679G>A"	"r.(?)"	"p.(Arg560His)"	""
"0000539988"	"00005068"	"30"	"1682"	"0"	"1682"	"0"	"c.1682G>A"	"r.(?)"	"p.(Arg561Gln)"	""
"0000612484"	"00005068"	"50"	"-2287"	"0"	"-2287"	"0"	"c.-2287G>A"	"r.(?)"	"p.(=)"	""
"0000647907"	"00005068"	"90"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Gln140*)"	""
"0000647908"	"00005068"	"10"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Leu243Phe)"	""
"0000647909"	"00005068"	"30"	"1198"	"0"	"1198"	"0"	"c.1198G>A"	"r.(?)"	"p.(Asp400Asn)"	""
"0000647910"	"00005068"	"30"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Leu458Phe)"	""
"0000669061"	"00005068"	"10"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Leu243Phe)"	""
"0000722832"	"00005068"	"30"	"711"	"0"	"711"	"0"	"c.711C>G"	"r.(?)"	"p.(Ser237Arg)"	""
"0000722833"	"00005068"	"70"	"850"	"0"	"850"	"0"	"c.850G>A"	"r.(?)"	"p.(Gly284Ser)"	""
"0000722834"	"00005068"	"70"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Val430Met)"	""
"0000804443"	"00005068"	"50"	"1679"	"0"	"1679"	"0"	"c.1679G>A"	"r.(?)"	"p.(Arg560His)"	""
"0000804444"	"00005068"	"50"	"1679"	"0"	"1679"	"0"	"c.1679G>A"	"r.(?)"	"p.(Arg560His)"	""
"0000819277"	"00005068"	"50"	"2222"	"0"	"2222"	"0"	"c.2222G>A"	"r.(?)"	"p.(Arg741Lys)"	""
"0000844681"	"00005068"	"70"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	""
"0000844682"	"00005068"	"70"	"1267"	"0"	"1267"	"0"	"c.1267G>A"	"r.(?)"	"p.(Asp423Asn)"	""
"0000861919"	"00005068"	"30"	"2177"	"0"	"2177"	"0"	"c.2177C>T"	"r.(?)"	"p.(Pro726Leu)"	""
"0000889152"	"00005068"	"10"	"141"	"0"	"141"	"0"	"c.141C>G"	"r.(?)"	"p.(Asp47Glu)"	""
"0000889153"	"00005068"	"30"	"287"	"-442"	"287"	"-442"	"c.287-442C>T"	"r.(=)"	"p.(=)"	""
"0000909216"	"00005068"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000909217"	"00005068"	"70"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000909239"	"00005068"	"50"	"487"	"0"	"487"	"0"	"c.487C>T"	"r.(?)"	"p.(Arg163Trp)"	""
"0000909240"	"00005068"	"50"	"487"	"0"	"487"	"0"	"c.487C>T"	"r.(?)"	"p.(Arg163Trp)"	""
"0000935134"	"00005068"	"50"	"0"	"0"	"0"	"0"	"c.-153_*58{2}"	"r.?"	"p.?"	"_1_15_"
"0000946135"	"00005068"	"50"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Val430Met)"	""
"0000965735"	"00005068"	"70"	"-3058"	"0"	"-3058"	"0"	"c.-3058A>G"	"r.(?)"	"p.(=)"	""
"0000965736"	"00005068"	"90"	"-2361"	"0"	"-2361"	"0"	"c.-2361del"	"r.(?)"	"p.(=)"	""
"0000979054"	"00005068"	"10"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Leu243Phe)"	""
"0000979055"	"00005068"	"30"	"1248"	"0"	"1248"	"0"	"c.1248C>T"	"r.(?)"	"p.(=)"	""
"0001037910"	"00005068"	"30"	"-1866"	"0"	"-1866"	"0"	"c.-1866C>T"	"r.(?)"	"p.(=)"	""
"0001037911"	"00005068"	"30"	"414"	"0"	"414"	"0"	"c.414G>C"	"r.(?)"	"p.(=)"	""
"0001037912"	"00005068"	"30"	"1198"	"0"	"1198"	"0"	"c.1198G>A"	"r.(?)"	"p.(Asp400Asn)"	""
"0001037913"	"00005068"	"30"	"1883"	"0"	"1883"	"0"	"c.1883G>A"	"r.(?)"	"p.(Arg628Gln)"	""
"0001053542"	"00005068"	"10"	"-3362"	"0"	"-3362"	"0"	"c.-3362C>A"	"r.(?)"	"p.(=)"	""
"0001053543"	"00005068"	"50"	"-2429"	"0"	"-2429"	"0"	"c.-2429G>C"	"r.(?)"	"p.(=)"	""
"0001053544"	"00005068"	"50"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Val430Met)"	""
"0001053545"	"00005068"	"50"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Glu476Lys)"	""
"0001069714"	"00005068"	"70"	"1007"	"0"	"1007"	"0"	"c.1007T>C"	"r.(?)"	"p.(Ile336Thr)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 106
"{{screeningid}}"	"{{variantid}}"
"0000035262"	"0000062381"
"0000035264"	"0000062383"
"0000035264"	"0000435982"
"0000035265"	"0000062384"
"0000035266"	"0000062385"
"0000035267"	"0000062386"
"0000035268"	"0000062387"
"0000035269"	"0000062388"
"0000035270"	"0000062389"
"0000035271"	"0000062390"
"0000118393"	"0000194497"
"0000118393"	"0000194498"
"0000118394"	"0000194499"
"0000184206"	"0000408211"
"0000206259"	"0000435690"
"0000206259"	"0000435984"
"0000206260"	"0000435691"
"0000206260"	"0000435985"
"0000206264"	"0000435695"
"0000206264"	"0000435986"
"0000206266"	"0000435697"
"0000206266"	"0000435987"
"0000206267"	"0000435698"
"0000206268"	"0000435699"
"0000206268"	"0000435988"
"0000206270"	"0000435701"
"0000206270"	"0000435989"
"0000206271"	"0000435702"
"0000206271"	"0000435703"
"0000206272"	"0000435704"
"0000206272"	"0000435705"
"0000206273"	"0000435706"
"0000206273"	"0000435990"
"0000206274"	"0000435707"
"0000206274"	"0000435991"
"0000206275"	"0000435708"
"0000206276"	"0000435709"
"0000206276"	"0000435983"
"0000206277"	"0000435710"
"0000206277"	"0000435711"
"0000206278"	"0000435712"
"0000206278"	"0000435713"
"0000206279"	"0000435714"
"0000206279"	"0000435715"
"0000206280"	"0000435716"
"0000206280"	"0000435717"
"0000206281"	"0000435718"
"0000206281"	"0000435719"
"0000206282"	"0000435720"
"0000206282"	"0000435721"
"0000206283"	"0000435722"
"0000206284"	"0000435723"
"0000206284"	"0000435724"
"0000206285"	"0000435725"
"0000206285"	"0000435726"
"0000206286"	"0000435727"
"0000206286"	"0000435728"
"0000206287"	"0000435729"
"0000206287"	"0000435730"
"0000206288"	"0000435731"
"0000206288"	"0000435732"
"0000206289"	"0000435733"
"0000206289"	"0000435734"
"0000206290"	"0000435735"
"0000206290"	"0000435736"
"0000206291"	"0000435737"
"0000206291"	"0000435738"
"0000206292"	"0000435739"
"0000206292"	"0000435740"
"0000206293"	"0000435741"
"0000206293"	"0000435742"
"0000206294"	"0000435743"
"0000206294"	"0000435744"
"0000206295"	"0000435745"
"0000206295"	"0000435746"
"0000206296"	"0000435747"
"0000206296"	"0000435748"
"0000206297"	"0000435749"
"0000206297"	"0000435750"
"0000206298"	"0000435751"
"0000206298"	"0000435752"
"0000206299"	"0000435753"
"0000206299"	"0000435754"
"0000206300"	"0000435755"
"0000206300"	"0000435756"
"0000206301"	"0000435757"
"0000206301"	"0000435758"
"0000206302"	"0000435759"
"0000206303"	"0000435760"
"0000206304"	"0000435761"
"0000206304"	"0000435762"
"0000291218"	"0000647907"
"0000291219"	"0000647908"
"0000291220"	"0000647909"
"0000291221"	"0000647910"
"0000305373"	"0000669061"
"0000389881"	"0000819277"
"0000407866"	"0000844681"
"0000407866"	"0000844682"
"0000429631"	"0000909216"
"0000429631"	"0000909239"
"0000429632"	"0000909217"
"0000429632"	"0000909240"
"0000439418"	"0000935134"
"0000444279"	"0000946135"
"0000475318"	"0001069714"