### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC18A3)
# 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}}"
"SLC18A3"	"solute carrier family 18 (vesicular acetylcholine), member 3"	"10"	"q11.2"	"unknown"	"NG_053144.1"	"UD_132464514253"	""	"https://www.LOVD.nl/SLC18A3"	""	"1"	"10936"	"6572"	"600336"	"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/SLC18A3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-10-19 17:08:52"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00019144"	"SLC18A3"	"solute carrier family 18 (vesicular acetylcholine), member 3"	"001"	"NM_003055.2"	""	"NP_003046.2"	""	""	""	"-440"	"1980"	"1599"	"50818347"	"50820766"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"01666"	"FADS"	"akinesia, fetal, deformation sequence (FADS)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-10-27 12:54:08"
"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"
"05475"	"CMS21"	"myasthenic syndrome, congenital, type 21, pre-synaptic (CMS-21)"	"AR"	"617239"	""	"autosomal recessive"	""	"00006"	"2018-10-19 17:13:56"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SLC18A3"	"05475"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00183249"	""	""	""	"1"	""	"00006"	"{PMID:O\'Grady 2016:27590285}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Philippines"	""	"0"	""	""	""	"Fam1"
"00183250"	""	""	""	"1"	""	"00006"	"{PMID:O\'Grady 2016:27590285}"	"5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam2"
"00208995"	""	""	""	"2"	""	"03138"	""	""	"-"	"-"	"Finland"	"<00y"	"0"	""	""	""	""
"00437934"	""	""	""	"2"	""	"00006"	"{PMID:Erbe 2023:37834164}"	"4-generation family, 2 affected (2M), 2 unaffected carrier females"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00443840"	""	""	""	"1"	""	"00006"	"{PMID:Imafidon 2021:34136434}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat625"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00183249"	"04312"
"00183250"	"04312"
"00208995"	"01666"
"00437934"	"05324"
"00443840"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01666, 04312, 05324, 05475
## Count = 5
"{{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"	""
"0000143980"	"04312"	"00183250"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"CMS-21"	"congenital myasthenic syndrome"	""
"0000173730"	"01666"	"00208995"	"03138"	"Familial, autosomal recessive"	""	"Fetal akinesia sequence"	""	"<00y"	""	""	""	""	""	""	""	""	""
"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"	""
"0000333117"	"00198"	"00443840"	"00006"	"Unknown"	""	"flexion stance of the digits, dysmorphic features"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000184206"	"00183249"	"1"	"00006"	"00006"	"2018-10-19 17:19:54"	"00006"	"2018-10-19 17:28:00"	"arrayCNV;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000184207"	"00183250"	"1"	"00006"	"00006"	"2018-10-19 17:23:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000210051"	"00208995"	"1"	"03138"	"03138"	"2018-12-21 09:20:20"	""	""	"SEQ-NG-I"	"DNA"	""	"WES results confirmed with Sanger sequencing"
"0000439418"	"00437934"	"1"	"00006"	"00006"	"2023-10-16 20:34:54"	""	""	"OM;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000445337"	"00443840"	"1"	"00006"	"00006"	"2023-12-03 11:44:16"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000184206"	"SLC18A3"
"0000184207"	"SLC18A3"
"0000210051"	"SLC18A3"


## 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 = 38
"{{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}}"
"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)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49648513G>A"	""	"VUS"	""
"0000408209"	"21"	"90"	"10"	"50819343"	"50819343"	"subst"	"0"	"00006"	"SLC18A3_000001"	"g.50819343G>C"	""	"{PMID:O\'Grady 2016:27590285}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49611297G>C"	""	"pathogenic (recessive)"	""
"0000408210"	"3"	"90"	"10"	"50819978"	"50819978"	"subst"	"0"	"00006"	"CHAT_000057"	"g.50819978G>C"	""	"{PMID:O\'Grady 2016:27590285}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49611932G>C"	""	"pathogenic (recessive)"	""
"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)"	""
"0000474791"	"3"	"70"	"10"	"50819902"	"50819902"	"subst"	"0.000197516"	"03138"	"SLC18A3_000003"	"g.50819902C>A"	""	"Hakonen et al., Am J Med Genet Part A (in press)"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49611856C>A"	""	"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"	""
"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)"	"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"	""
"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"	""
"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"	""
"0000952251"	"11"	"70"	"10"	"50819949"	"50819949"	"subst"	"4.09537E-6"	"00006"	"CHAT_000068"	"g.50819949G>A"	""	"{PMID:Imafidon 2021:34136434}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49611903G>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"	""


## 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 SLC18A3
## Count = 38
"{{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}}"
"0000266757"	"00019144"	"10"	"37866"	"0"	"37866"	"0"	"c.*36267G>A"	"r.(=)"	"p.(=)"	""
"0000270075"	"00019144"	"30"	"37857"	"0"	"37857"	"0"	"c.*36258C>T"	"r.(=)"	"p.(=)"	""
"0000270076"	"00019144"	"30"	"44402"	"0"	"44402"	"0"	"c.*42803G>A"	"r.(=)"	"p.(=)"	""
"0000270077"	"00019144"	"30"	"35788"	"0"	"35788"	"0"	"c.*34189G>C"	"r.(=)"	"p.(=)"	""
"0000338344"	"00019144"	"10"	"3440"	"0"	"3440"	"0"	"c.*1841T>G"	"r.(=)"	"p.(=)"	""
"0000340216"	"00019144"	"10"	"44361"	"0"	"44361"	"0"	"c.*42762T>C"	"r.(=)"	"p.(=)"	""
"0000341138"	"00019144"	"10"	"5833"	"0"	"5833"	"0"	"c.*4234G>A"	"r.(=)"	"p.(=)"	""
"0000344083"	"00019144"	"50"	"1192"	"0"	"1192"	"0"	"c.1192G>C"	"r.(?)"	"p.(Asp398His)"	""
"0000347179"	"00019144"	"30"	"37857"	"0"	"37857"	"0"	"c.*36258C>T"	"r.(=)"	"p.(=)"	""
"0000350535"	"00019144"	"50"	"37773"	"0"	"37773"	"0"	"c.*36174G>A"	"r.(=)"	"p.(=)"	""
"0000408209"	"00019144"	"90"	"557"	"0"	"557"	"0"	"c.557G>C"	"r.(?)"	"p.(Gly186Ala)"	"1"
"0000408210"	"00019144"	"90"	"1192"	"0"	"1192"	"0"	"c.1192G>C"	"r.(?)"	"p.(Asp398His)"	"1"
"0000408211"	"00019144"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_"
"0000474791"	"00019144"	"70"	"1116"	"0"	"1116"	"0"	"c.1116C>A"	"r.(?)"	"p.(Cys372*)"	""
"0000539983"	"00019144"	"50"	"16995"	"0"	"16995"	"0"	"c.*15396C>T"	"r.(=)"	"p.(=)"	""
"0000539985"	"00019144"	"50"	"38845"	"0"	"38845"	"0"	"c.*37246G>T"	"r.(=)"	"p.(=)"	""
"0000539986"	"00019144"	"10"	"44361"	"0"	"44361"	"0"	"c.*42762T>C"	"r.(=)"	"p.(=)"	""
"0000539987"	"00019144"	"50"	"44399"	"0"	"44399"	"0"	"c.*42800G>A"	"r.(=)"	"p.(=)"	""
"0000539988"	"00019144"	"30"	"44402"	"0"	"44402"	"0"	"c.*42803G>A"	"r.(=)"	"p.(=)"	""
"0000612484"	"00019144"	"50"	"1163"	"0"	"1163"	"0"	"c.1163G>A"	"r.(?)"	"p.(Cys388Tyr)"	""
"0000722832"	"00019144"	"30"	"11369"	"0"	"11369"	"0"	"c.*9770C>G"	"r.(=)"	"p.(=)"	""
"0000722833"	"00019144"	"70"	"14830"	"0"	"14830"	"0"	"c.*13231G>A"	"r.(=)"	"p.(=)"	""
"0000722834"	"00019144"	"70"	"37773"	"0"	"37773"	"0"	"c.*36174G>A"	"r.(=)"	"p.(=)"	""
"0000804443"	"00019144"	"50"	"44399"	"0"	"44399"	"0"	"c.*42800G>A"	"r.(=)"	"p.(=)"	""
"0000804444"	"00019144"	"50"	"44399"	"0"	"44399"	"0"	"c.*42800G>A"	"r.(=)"	"p.(=)"	""
"0000861919"	"00019144"	"30"	"54236"	"0"	"54236"	"0"	"c.*52637C>T"	"r.(=)"	"p.(=)"	""
"0000889152"	"00019144"	"10"	"3590"	"0"	"3590"	"0"	"c.*1991C>G"	"r.(=)"	"p.(=)"	""
"0000889153"	"00019144"	"30"	"5320"	"0"	"5320"	"0"	"c.*3721C>T"	"r.(=)"	"p.(=)"	""
"0000935134"	"00019144"	"50"	"0"	"0"	"0"	"0"	"c.-440_*381{2}"	"r.?"	"p.?"	"_1_"
"0000952251"	"00019144"	"70"	"1163"	"0"	"1163"	"0"	"c.1163G>A"	"r.(?)"	"p.(Cys388Tyr)"	""
"0000965735"	"00019144"	"70"	"392"	"0"	"392"	"0"	"c.392A>G"	"r.(?)"	"p.(Lys131Arg)"	""
"0000965736"	"00019144"	"90"	"1089"	"0"	"1089"	"0"	"c.1089del"	"r.(?)"	"p.(Leu364Trpfs*3)"	""
"0000979054"	"00019144"	"10"	"11385"	"0"	"11385"	"0"	"c.*9786C>T"	"r.(=)"	"p.(=)"	""
"0000979055"	"00019144"	"30"	"35901"	"0"	"35901"	"0"	"c.*34302C>T"	"r.(=)"	"p.(=)"	""
"0001037910"	"00019144"	"30"	"1584"	"0"	"1584"	"0"	"c.1584C>T"	"r.(?)"	"p.(=)"	""
"0001037911"	"00019144"	"30"	"9011"	"0"	"9011"	"0"	"c.*7412G>C"	"r.(=)"	"p.(=)"	""
"0001037912"	"00019144"	"30"	"35851"	"0"	"35851"	"0"	"c.*34252G>A"	"r.(=)"	"p.(=)"	""
"0001037913"	"00019144"	"30"	"51948"	"0"	"51948"	"0"	"c.*50349G>A"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000184206"	"0000408209"
"0000184206"	"0000408211"
"0000184207"	"0000408210"
"0000210051"	"0000474791"
"0000439418"	"0000935134"
"0000445337"	"0000952251"