### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC6A8)
# 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}}"
"SLC6A8"	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"	"X"	"q28"	"unknown"	"NG_012016.1"	"UD_132118734022"	""	"http://www.LOVD.nl/SLC6A8"	""	"1"	"11055"	"6535"	"300036"	"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"	"http://databases.lovd.nl/shared/refseq/SLC6A8_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2009-05-07 00:00:00"	"00006"	"2016-11-16 22:00:53"	"00006"	"2025-11-13 13:04:16"


## 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}}"
"00023863"	"SLC6A8"	"transcript variant 1"	"001"	"NM_005629.3"	""	"NP_005620.1"	""	""	""	"-278"	"3287"	"1908"	"152953752"	"152962048"	"00008"	"2013-11-25 16:22:17"	""	""


## 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}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00187"	"MRX;IDX"	"mental retardation, X-linked (MRX, intellectual disability (IDX))"	""	""	""	"X-linked"	""	"00006"	"2013-09-05 15:56:47"	"00006"	"2018-12-18 09:23:21"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01085"	"CCDS1;CDSX"	"deficiency, cerebral creatine, syndrome, type 1 (CCDS1, creatine deficiency syndrome, X-linked (CDSX))"	"XLR"	"300352"	""	"X-linked recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-05-07 10:03:36"
"03185"	"CCDS"	"deficiency, cerebral creatine, syndrome (CCDS)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-05-07 10:08:15"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"SLC6A8"	"00139"
"SLC6A8"	"01085"
"SLC6A8"	"03185"


## Individuals ## Do not remove or alter this header ##
## Count = 334
"{{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}}"
"00037137"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037138"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037139"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037140"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037141"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037142"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037143"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037144"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037145"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037146"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037147"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037148"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00164643"	""	""	""	"3"	""	"00006"	"{PMID:Schuurs-Hoeijmakers 2013:24123876}"	"2-generation family, 3 affected males, unaffected carrier mother"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"24123876-FamW10-2749"
"00183047"	""	""	""	"1"	""	"00006"	"{PMID:de Ligt 2012:23033978}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"23033978-Trio13"
"00183122"	""	""	""	"2"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 2 affected, 2 unaffected heterozygous carrier females"	"M"	""	""	""	"0"	""	""	""	"25644381-FamD96"
"00183123"	""	""	""	"2"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 2 affected, 4 unaffected heterozygous carrier females"	"M"	""	""	""	"0"	""	""	""	"25644381-FamAU36"
"00183124"	""	""	""	"2"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 2 affected, 1 unaffected heterozygous carrier female"	"M"	""	""	""	"0"	""	""	""	"25644381-FamP86"
"00183125"	""	""	""	"1"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 1 affected, 3 unaffected heterozygous carrier females"	"M"	""	""	""	"0"	""	""	""	"25644381-FamD150"
"00183137"	""	""	""	"2"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 2 affected, 1 unaffected heterozygous carrier female"	"M"	""	""	""	"0"	""	""	""	"25644381-FamAU29"
"00185783"	""	""	""	"1"	""	"01815"	"{PMID:Cecil 2001:11261517}, {PMID:degrauw 2002:12536364}, {PMID:degrauw 2002:12701808}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185784"	""	""	""	"1"	""	"01815"	"{PMID:Cecil 2001:11261517}, {PMID:degrauw 2002:12536364}, {PMID:degrauw 2002:12701808}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185785"	""	""	""	"1"	""	"01815"	"{PMID:Cecil 2001:11261517}, {PMID:degrauw 2002:12536364}, {PMID:degrauw 2002:12701808}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185786"	""	""	""	"1"	""	"01815"	"{PMID:Cecil 2001:11261517}, {PMID:degrauw 2002:12536364}, {PMID:degrauw 2002:12701808}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185787"	""	""	""	"1"	""	"01815"	"{PMID:Cecil 2003:12544242}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185788"	""	""	""	"1"	""	"01815"	"{PMID:Cecil 2001:11261517}, {PMID:degrauw 2002:12536364}, {PMID:degrauw 2002:12701808}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185789"	""	""	""	"1"	""	"01815"	"{PMID:Bizzi 2002:12210795}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00185790"	""	""	""	"1"	""	"01815"	"{PMID:Bizzi 2002:12210795}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00185791"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185792"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185793"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185794"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185795"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185796"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185797"	""	""	""	"1"	""	"01815"	"{PMID:Hahn 2002:11898126}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185798"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185799"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00185800"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185801"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00185802"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	"DNA status not tested"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185803"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	"DNA status not tested"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185805"	""	""	""	"141"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185806"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185807"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185808"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185818"	""	""	""	"37"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185819"	""	""	""	"3"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185820"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185821"	""	""	""	"1"	""	"01815"	"{DOI:Wilcken 2008:10.1007/s10545-008-9975-0}"	""	"M"	""	"Australia"	""	"0"	""	""	""	""
"00185822"	""	""	""	"1"	""	"01815"	"{PMID:Schiaffino 2005:16086185}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00185823"	""	""	""	"1"	""	"01815"	"{PMID:Schiaffino 2005:16086185}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00185824"	""	""	""	"3"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185825"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185826"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185827"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185828"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185829"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185830"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185831"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Austria"	""	"0"	""	""	""	""
"00185832"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185833"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185834"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185835"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185836"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185837"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185838"	""	""	""	"4"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185839"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185840"	""	""	""	"35"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185841"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185842"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185843"	""	""	""	"1"	""	"01815"	"{DOI:De Kort 2006:10.1007/BF03061633}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185844"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185845"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185846"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185847"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185848"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185849"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185850"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"F"	""	""	""	"0"	""	""	""	""
"00185851"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185852"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185853"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00185854"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00185855"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00185856"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185857"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00185858"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185859"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185860"	""	""	""	"3"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185861"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185862"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185863"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185864"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185865"	""	""	""	"1"	""	"01815"	"{PMID:Poo-Arguelles 2006:16601898}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00185866"	""	""	""	"1"	""	"01815"	"{PMID:Poo-Arguelles 2006:16601898}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00185867"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00185868"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00185869"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185870"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	"mutation appears to be mosaic, and was not detected in the mother"	"F"	""	"United States"	""	"0"	""	""	""	""
"00185871"	""	""	""	"10"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185872"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185873"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185874"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00185875"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Norway"	""	"0"	""	""	""	""
"00185876"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185877"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00185878"	""	""	""	"1"	""	"01815"	"{PMID:Battini 2007:17603797}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00185879"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185880"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185881"	""	""	""	"1"	""	"01815"	"{PMID:Kleefstra 2005:16143026}, {PMID:Rosenberg 2004:15154114}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185882"	""	""	""	"1"	""	"01815"	"{PMID:Kleefstra 2005:16143026}, {PMID:Rosenberg 2004:15154114}"	""	"F"	""	""	""	"0"	""	""	""	""
"00185883"	""	""	""	"1"	""	"01815"	"{PMID:Kleefstra 2005:16143026}, {PMID:Rosenberg 2004:15154114}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185884"	""	""	""	"1"	""	"01815"	"{PMID:Fons 2008:18925426}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185885"	""	""	""	"1"	""	"01815"	"{PMID:Fons 2008:18925426}"	""	"F"	""	""	""	"0"	""	""	""	""
"00185886"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185887"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185888"	""	""	""	"12"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185889"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185890"	""	""	""	"6"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185891"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185892"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185893"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2008:18350323}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185894"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2008:18350323}"	""	"F"	""	""	""	"0"	""	""	""	""
"00185895"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2008:18350323}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185896"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185897"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185898"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00185899"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00185900"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00185901"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00185902"	""	""	""	"36"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185903"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185904"	""	""	""	"4"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185905"	""	""	""	"13"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185906"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185907"	""	""	""	"3"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185908"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185909"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185910"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185911"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185912"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185913"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185914"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185915"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185916"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185917"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00185918"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00185919"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185920"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00185921"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00185922"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00185923"	""	""	""	"1"	""	"01815"	"{PMID:Poo-Arguelles 2006:16601898}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00185924"	""	""	""	"1"	""	"01815"	"{PMID:Poo-Arguelles 2006:16601898}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00185925"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185926"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185927"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00185928"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185929"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"M"	""	"Estonia"	""	"0"	""	""	""	""
"00185930"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"F"	""	"Estonia"	""	"0"	""	""	""	""
"00185931"	""	""	""	"1"	""	"01815"	"{PMID:Mercimek-Mahmutoglu 2009:19188083}"	""	"M"	""	"Austria"	""	"0"	""	""	""	""
"00185932"	""	""	""	"1"	""	"01815"	"{PMID:Mercimek-Mahmutoglu 2009:19188083}"	""	"M"	""	"Lebanon"	""	"0"	""	""	""	""
"00185933"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185934"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185935"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185936"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185937"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185938"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00185939"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185940"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185941"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185942"	""	""	""	"3"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185943"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185944"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185945"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00185946"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00185947"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00185948"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00185949"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00185950"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00185951"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00185952"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00185953"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00185954"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00185955"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00185956"	""	""	""	"1"	""	"01815"	"{PMID:Puusepp 2008:19165619}"	""	"M"	""	"Estonia"	""	"0"	""	""	""	""
"00185957"	""	""	""	"1"	""	"01815"	"{PMID:Puusepp 2008:19165619}"	""	"M"	""	"Estonia"	""	"0"	""	""	""	""
"00185958"	""	""	""	"1"	""	"01815"	"{PMID:Puusepp 2008:19165619}"	""	"M"	""	"Estonia"	""	"0"	""	""	""	""
"00185959"	""	""	""	"1"	""	"01815"	"{PMID:Puusepp 2008:19165619}"	""	"F"	""	"Estonia"	""	"0"	""	""	""	""
"00185960"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185961"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00185962"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185963"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185964"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	"DNA status not known"	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185965"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00185966"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185967"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185968"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185969"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}, {PMID:Hathaway 2010:20501887}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185970"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}, {PMID:Hathaway 2010:20501887}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185971"	""	""	""	"6"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185972"	""	""	""	"6"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185973"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00185974"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185975"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	"DNA status not known"	"M"	""	"France"	""	"0"	""	""	""	""
"00185976"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185978"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185979"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	"not affected (mosaic)"	"F"	""	"France"	""	"0"	""	""	""	""
"00185980"	""	""	""	"2"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185981"	""	""	""	"4"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185982"	""	""	""	"2"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185983"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185984"	""	""	""	"1"	""	"01815"	"{PMID:Mancini 2005:15690373}, {DOI:De Kort 2006:10.1007/BF03061633}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185985"	""	""	""	"1"	""	"01815"	"{PMID:Mancini 2005:15690373}, {DOI:De Kort 2006:10.1007/BF03061633}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00185986"	""	""	""	"1"	""	"01815"	"{PMID:Mancini 2005:15690373}, {DOI:De Kort 2006:10.1007/BF03061633}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
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"00185988"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185989"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00185990"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00185991"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
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"00185993"	""	""	""	"1"	""	"01815"	"{PMID:Puusepp 2008:19165619}"	""	"M"	""	""	""	"0"	""	""	""	""
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"00185995"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00185996"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00185997"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00185998"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
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"00186000"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00186001"	""	""	""	"1"	""	"01815"	"{PMID:Mancini 2005:15690373}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186002"	""	""	""	"1"	""	"01815"	"{PMID:Mancini 2005:15690373}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
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"00186004"	""	""	""	"1"	""	"01815"	"{PMID:Fons 2008:18925426}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00186005"	""	""	""	"1"	""	"01815"	"{PMID:Fons 2008:18925426}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00186006"	""	""	""	"1"	""	"01815"	"{PMID:Mancardi 2007:17553121}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00186007"	""	""	""	"1"	""	"01815"	"{PMID:Mancardi 2007:17553121}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00186008"	""	""	""	"1"	""	"01815"	"{PMID:Mancardi 2007:17553121}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00186009"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00186010"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00186011"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186012"	""	""	""	"20"	""	"01815"	"{PMID:Rosenberg 2004:15154114}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186013"	""	""	""	"4"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186014"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186015"	""	""	""	"1"	""	"01815"	"{PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186017"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186018"	""	""	""	"1"	""	"01815"	"{PMID:Newmayer 2007:18461508}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186020"	""	""	""	"1"	""	"01815"	"{PMID:Anselm 2008:18443316}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00186022"	""	""	""	"1"	""	"01815"	"{PMID:Anselm 2006:16601897}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186023"	""	""	""	"1"	""	"01815"	"{PMID:Anselm 2006:16601897}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186024"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186025"	""	""	""	"1"	""	"01815"	"{PMID:Fons 2009:19706062}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00186026"	""	""	""	"1"	""	"01815"	"{PMID:Sempere 2009:19319661}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00186027"	""	""	""	"1"	""	"01815"	"{PMID:Sempere 2009:19319661}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00186028"	""	""	""	"1"	""	"01815"	"{PMID:Sempere 2009:19319661}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00186029"	""	""	""	"1"	""	"01815"	"{PMID:Sempere 2009:19319661}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00186030"	""	""	""	"1"	""	"01815"	"{PMID:Dezortova 2008:18726626}"	""	"M"	""	"Czech Republic"	""	"0"	""	""	""	""
"00186031"	""	""	""	"1"	""	"01815"	"{PMID:Dezortova 2008:18726626}"	""	"F"	""	"Czech Republic"	""	"0"	""	""	""	""
"00186032"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186033"	""	""	""	"1"	""	"01815"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00186034"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186035"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186036"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186037"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186038"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186039"	""	""	""	"1"	""	"01815"	"{DOI:De Kort 2006:10.1007/BF03061633}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186040"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186041"	""	""	""	"1"	""	"01815"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00186042"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186043"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186044"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186045"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186046"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186047"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186049"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186050"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186051"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186053"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186054"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186055"	""	""	""	"1"	""	"01815"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00186057"	""	""	""	"1"	""	"01815"	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186058"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00186059"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186062"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186063"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00186064"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00186065"	""	""	""	"1"	""	"01815"	""	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00186066"	""	""	""	"1"	""	"01815"	""	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00186067"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00186068"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	""
"00186071"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186080"	""	""	""	"1"	""	"01815"	"{PMID:Bizzi 2002:12210795}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186081"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186083"	""	""	""	"1"	""	"01815"	"{PMID:Jensen 2011:21267006}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186086"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186090"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Austria"	""	"0"	""	""	""	""
"00186097"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00186099"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186100"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186101"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186102"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186103"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186104"	""	""	""	"1"	""	"01815"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00186105"	""	""	""	"1"	""	"01815"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00186106"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Canada"	""	"0"	""	""	""	""
"00186107"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186108"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}"	""	"F"	""	""	""	"0"	""	""	""	""
"00186109"	""	""	""	"1"	""	"01815"	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00186110"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"Belgium"	""	"0"	""	""	""	""
"00186111"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Ireland"	""	"0"	""	""	""	""
"00186112"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186113"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00186117"	""	""	""	"1"	""	"01815"	"{PMID:Clark 2006:16738945}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00186119"	""	""	""	"1"	""	"01815"	"{PMID:Bizzi 2002:12210795}"	""	"M"	""	"Australia"	""	"0"	""	""	""	""
"00186120"	""	""	""	"1"	""	"01815"	"{PMID:Bizzi 2002:12210795}"	""	"F"	""	"Australia"	""	"0"	""	""	""	""
"00186123"	""	""	""	"1"	""	"01815"	""	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00186132"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"M"	""	"New Zealand"	""	"0"	""	""	""	""
"00186133"	""	""	""	"1"	""	"01815"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	"F"	""	"New Zealand"	""	"0"	""	""	""	""
"00186134"	""	""	""	"1"	""	"01815"	"{PMID 20002129:Alcaide 2010}, {PMID 21140503 :Alcaide 2010}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00186135"	""	""	""	"1"	""	"01815"	"{PMID 21140503 :Alcaide 2010}"	""	"M"	""	""	""	"0"	""	""	""	""
"00186136"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00186137"	""	""	""	"1"	""	"01815"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00186138"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Canada"	""	"0"	""	""	""	""
"00186140"	""	""	""	"1"	""	"01815"	"{PMID:Lion-Francois 2006:17101918}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00186141"	""	""	""	"1"	""	"01815"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00186142"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Canada"	""	"0"	""	""	""	""
"00186143"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Canada"	""	"0"	""	""	""	""
"00186144"	""	""	""	"1"	""	"01815"	"{PMID:van de Kamp 2013:23644449}"	""	"F"	""	"Canada"	""	"0"	""	""	""	""
"00186151"	""	""	""	"1"	""	"02594"	"{PMID:Ardon 2016:27408820}"	""	"M"	""	"Israel"	""	"0"	""	""	""	""
"00301045"	""	""	""	"1"	""	"01815"	""	""	"M"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00302672"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00314881"	""	""	""	"1"	""	"00006"	"{PMID:Zhu 2015:25590979}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Trio52"
"00314919"	""	""	""	"4"	""	"00006"	"{PMID:Cacciagli 2013:24011989}"	"4-generation family, 4 affected (4M), 3 unaffected carrier females"	"M"	""	"France"	"7m"	"0"	""	""	""	"Fam2PatIII5"
"00314924"	""	""	""	"1"	""	"00006"	"{PMID:Osaka 2012:22472424}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	"no"	"Japan"	""	"0"	""	""	""	"patient"
"00386510"	""	""	""	"1"	""	"00006"	"{PMID:Nair 2018:30293248}"	"patient"	""	""	"Lebanon"	""	"0"	""	""	""	""
"00426158"	""	""	""	"1"	""	"00006"	"{PMID:Al-Kasbi 2022:36344539}"	"patient, no other affecteds in family"	"M"	""	"Oman"	""	"0"	""	""	""	"10MS12000"
"00444525"	""	""	""	"1"	""	"00006"	"{PMID:Riquin 2023:37495270}"	"patient"	"M"	""	"France"	""	"0"	""	""	""	"Pat27"
"00469388"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 323
"{{individualid}}"	"{{diseaseid}}"
"00037142"	"00198"
"00164643"	"00139"
"00183047"	"00139"
"00183122"	"00187"
"00183123"	"00187"
"00183124"	"00187"
"00183125"	"00187"
"00183137"	"00187"
"00185783"	"01085"
"00185784"	"01085"
"00185785"	"01085"
"00185786"	"01085"
"00185787"	"01085"
"00185788"	"01085"
"00185789"	"01085"
"00185790"	"01085"
"00185791"	"01085"
"00185792"	"01085"
"00185793"	"01085"
"00185794"	"01085"
"00185795"	"01085"
"00185796"	"01085"
"00185797"	"01085"
"00185798"	"01085"
"00185799"	"01085"
"00185800"	"01085"
"00185801"	"01085"
"00185802"	"01085"
"00185803"	"01085"
"00185805"	"00000"
"00185806"	"00139"
"00185807"	"00139"
"00185808"	"01085"
"00185818"	"00000"
"00185819"	"00139"
"00185820"	"01085"
"00185821"	"01085"
"00185822"	"01085"
"00185823"	"01085"
"00185824"	"00139"
"00185825"	"01085"
"00185826"	"01085"
"00185827"	"01085"
"00185828"	"01085"
"00185829"	"01085"
"00185830"	"01085"
"00185831"	"01085"
"00185832"	"01085"
"00185833"	"00139"
"00185834"	"01085"
"00185835"	"01085"
"00185836"	"00000"
"00185837"	"00139"
"00185838"	"00139"
"00185839"	"00139"
"00185840"	"00000"
"00185841"	"00000"
"00185842"	"00139"
"00185843"	"01085"
"00185844"	"01085"
"00185845"	"01085"
"00185846"	"01085"
"00185847"	"01085"
"00185848"	"01085"
"00185849"	"00139"
"00185850"	"00139"
"00185851"	"01085"
"00185852"	"01085"
"00185853"	"01085"
"00185854"	"01085"
"00185855"	"01085"
"00185856"	"00139"
"00185857"	"01085"
"00185858"	"01085"
"00185859"	"01085"
"00185860"	"00000"
"00185861"	"00139"
"00185862"	"00139"
"00185863"	"01085"
"00185864"	"01085"
"00185865"	"01085"
"00185866"	"01085"
"00185867"	"01085"
"00185868"	"01085"
"00185869"	"01085"
"00185870"	"01085"
"00185871"	"00139"
"00185872"	"01085"
"00185873"	"01085"
"00185874"	"01085"
"00185875"	"01085"
"00185876"	"01085"
"00185877"	"01085"
"00185878"	"01085"
"00185879"	"01085"
"00185880"	"01085"
"00185881"	"01085"
"00185882"	"01085"
"00185883"	"01085"
"00185884"	"01085"
"00185885"	"01085"
"00185886"	"01085"
"00185887"	"01085"
"00185888"	"00139"
"00185889"	"00139"
"00185890"	"00139"
"00185891"	"00139"
"00185892"	"01085"
"00185893"	"01085"
"00185894"	"01085"
"00185895"	"01085"
"00185896"	"01085"
"00185897"	"01085"
"00185898"	"01085"
"00185899"	"01085"
"00185900"	"01085"
"00185901"	"01085"
"00185902"	"00000"
"00185903"	"00000"
"00185904"	"00000"
"00185905"	"00139"
"00185906"	"00139"
"00185907"	"00139"
"00185908"	"00139"
"00185909"	"00139"
"00185910"	"00139"
"00185911"	"00139"
"00185912"	"01085"
"00185913"	"00139"
"00185914"	"01085"
"00185915"	"01085"
"00185916"	"01085"
"00185917"	"01085"
"00185918"	"01085"
"00185919"	"01085"
"00185920"	"01085"
"00185921"	"01085"
"00185922"	"01085"
"00185923"	"01085"
"00185924"	"01085"
"00185925"	"01085"
"00185926"	"01085"
"00185927"	"01085"
"00185928"	"01085"
"00185929"	"01085"
"00185930"	"01085"
"00185931"	"01085"
"00185932"	"01085"
"00185933"	"01085"
"00185934"	"01085"
"00185935"	"01085"
"00185936"	"01085"
"00185937"	"01085"
"00185938"	"01085"
"00185939"	"01085"
"00185940"	"00139"
"00185941"	"00139"
"00185942"	"00139"
"00185943"	"00139"
"00185944"	"00139"
"00185945"	"01085"
"00185946"	"01085"
"00185947"	"01085"
"00185948"	"01085"
"00185949"	"01085"
"00185950"	"01085"
"00185951"	"01085"
"00185952"	"01085"
"00185953"	"01085"
"00185954"	"01085"
"00185955"	"01085"
"00185956"	"01085"
"00185957"	"01085"
"00185958"	"01085"
"00185959"	"01085"
"00185960"	"01085"
"00185961"	"01085"
"00185962"	"01085"
"00185963"	"01085"
"00185964"	"01085"
"00185965"	"01085"
"00185966"	"00000"
"00185967"	"00139"
"00185968"	"00139"
"00185969"	"01085"
"00185970"	"01085"
"00185971"	"00000"
"00185972"	"00139"
"00185973"	"01085"
"00185974"	"01085"
"00185975"	"00198"
"00185976"	"01085"
"00185978"	"01085"
"00185979"	"00000"
"00185980"	"00139"
"00185981"	"00139"
"00185982"	"00139"
"00185983"	"00139"
"00185984"	"01085"
"00185985"	"01085"
"00185986"	"01085"
"00185987"	"00139"
"00185988"	"01085"
"00185989"	"01085"
"00185990"	"01085"
"00185991"	"00139"
"00185992"	"00139"
"00185993"	"00139"
"00185994"	"00139"
"00185995"	"01085"
"00185996"	"01085"
"00185997"	"00139"
"00185998"	"00139"
"00185999"	"00000"
"00186000"	"01085"
"00186001"	"01085"
"00186002"	"01085"
"00186003"	"01085"
"00186004"	"01085"
"00186005"	"01085"
"00186006"	"01085"
"00186007"	"01085"
"00186008"	"01085"
"00186009"	"01085"
"00186010"	"01085"
"00186011"	"00000"
"00186012"	"00000"
"00186013"	"00139"
"00186014"	"00139"
"00186015"	"00139"
"00186017"	"00139"
"00186018"	"00198"
"00186020"	"01085"
"00186022"	"01085"
"00186023"	"01085"
"00186024"	"00139"
"00186025"	"01085"
"00186026"	"01085"
"00186027"	"01085"
"00186028"	"01085"
"00186029"	"01085"
"00186030"	"01085"
"00186031"	"01085"
"00186032"	"01085"
"00186033"	"01085"
"00186034"	"01085"
"00186035"	"01085"
"00186036"	"01085"
"00186037"	"01085"
"00186038"	"01085"
"00186039"	"01085"
"00186040"	"01085"
"00186041"	"01085"
"00186042"	"01085"
"00186043"	"01085"
"00186044"	"01085"
"00186045"	"01085"
"00186046"	"01085"
"00186047"	"01085"
"00186049"	"01085"
"00186050"	"01085"
"00186051"	"01085"
"00186053"	"01085"
"00186054"	"01085"
"00186055"	"01085"
"00186057"	"01085"
"00186058"	"01085"
"00186059"	"01085"
"00186062"	"01085"
"00186063"	"01085"
"00186064"	"01085"
"00186065"	"01085"
"00186066"	"01085"
"00186067"	"01085"
"00186068"	"01085"
"00186071"	"01085"
"00186080"	"01085"
"00186081"	"01085"
"00186083"	"01085"
"00186086"	"01085"
"00186090"	"01085"
"00186097"	"01085"
"00186099"	"01085"
"00186100"	"01085"
"00186101"	"01085"
"00186102"	"01085"
"00186103"	"01085"
"00186104"	"01085"
"00186105"	"01085"
"00186106"	"01085"
"00186107"	"01085"
"00186108"	"01085"
"00186109"	"01085"
"00186110"	"01085"
"00186111"	"01085"
"00186112"	"01085"
"00186113"	"01085"
"00186117"	"01085"
"00186119"	"01085"
"00186120"	"01085"
"00186123"	"00139"
"00186132"	"01085"
"00186133"	"01085"
"00186134"	"01085"
"00186135"	"01085"
"00186136"	"01085"
"00186137"	"01085"
"00186138"	"01085"
"00186140"	"01085"
"00186141"	"01085"
"00186142"	"01085"
"00186143"	"01085"
"00186144"	"01085"
"00186151"	"01085"
"00301045"	"01085"
"00302672"	"00198"
"00314881"	"00198"
"00314919"	"00198"
"00314924"	"00198"
"00386510"	"00198"
"00426158"	"00139"
"00444525"	"05611"
"00469388"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 01085, 03185, 05611
## Count = 322
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000129680"	"00139"	"00164643"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000143800"	"00139"	"00183047"	"00006"	"Isolated (sporadic)"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	""	"intellectual disability (ID)"	""
"0000143876"	"00187"	"00183122"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000143877"	"00187"	"00183123"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000143878"	"00187"	"00183124"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000143879"	"00187"	"00183125"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000143891"	"00187"	"00183137"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000145914"	"01085"	"00185783"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1.5; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145915"	"01085"	"00185784"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts normal"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145916"	"01085"	"00185785"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts tested"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145917"	"01085"	"00185786"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts tested"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145918"	"01085"	"00185787"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145919"	"01085"	"00185788"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145920"	"01085"	"00185789"	"01815"	"Unknown"	""	"MRS brain cr absent; urinary creatine/creatinine ratio 4.5"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145921"	"01085"	"00185790"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145922"	"01085"	"00185791"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.5; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145923"	"01085"	"00185792"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1.7; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145924"	"01085"	"00185793"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145925"	"01085"	"00185794"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145926"	"01085"	"00185795"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145927"	"01085"	"00185796"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145928"	"01085"	"00185797"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145929"	"01085"	"00185798"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.3; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145930"	"01085"	"00185799"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145931"	"01085"	"00185800"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.3"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145932"	"01085"	"00185801"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0.28; creatine uptake cultured fibroblasts not deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145933"	"01085"	"00185802"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145934"	"01085"	"00185803"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145936"	"00000"	"00185805"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000145937"	"00139"	"00185806"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000145938"	"00139"	"00185807"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000145939"	"01085"	"00185808"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145949"	"00000"	"00185818"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000145950"	"00139"	"00185819"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145951"	"01085"	"00185820"	"01815"	"Unknown"	""	"MRS brain reduced; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145952"	"01085"	"00185821"	"01815"	"Isolated (sporadic)"	""	"MRS brain low absent creatine; urinary creatine/creatinine ratio 3.4"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145953"	"01085"	"00185822"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 3.6; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145954"	"01085"	"00185823"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145955"	"00139"	"00185824"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio normal"	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000145956"	"01085"	"00185825"	"01815"	"Unknown"	""	"MRS brain near absent cr; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145957"	"01085"	"00185826"	"01815"	"Unknown"	""	"MRS brain near absent cr; urinary creatine/creatinine ratio 3.2"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145958"	"01085"	"00185827"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0.43"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145959"	"01085"	"00185828"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0.24"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145960"	"01085"	"00185829"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145961"	"01085"	"00185830"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145962"	"01085"	"00185831"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.9 / 3.6"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145963"	"01085"	"00185832"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145964"	"00139"	"00185833"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145965"	"01085"	"00185834"	"01815"	"Unknown"	""	"MRS brain low creatine"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145966"	"01085"	"00185835"	"01815"	"Unknown"	""	"MRS brain reduced creatine; urinary creatine/creatinine ratio increased; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145967"	"00000"	"00185836"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000145968"	"00139"	"00185837"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145969"	"00139"	"00185838"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145970"	"00139"	"00185839"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145971"	"00000"	"00185840"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000145972"	"00000"	"00185841"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000145973"	"00139"	"00185842"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145974"	"01085"	"00185843"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145975"	"01085"	"00185844"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145976"	"01085"	"00185845"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145977"	"01085"	"00185846"	"01815"	"Isolated (sporadic)"	""	"MRS brain reduced; urinary creatine/creatinine ratio 4.0; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145978"	"01085"	"00185847"	"01815"	"Unknown"	""	"MRS brain absent cr; urinary creatine/creatinine ratio 3.2"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145979"	"01085"	"00185848"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145980"	"00139"	"00185849"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased?"	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145981"	"00139"	"00185850"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased?"	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145982"	"01085"	"00185851"	"01815"	"Unknown"	""	"MRS brain reduced; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145983"	"01085"	"00185852"	"01815"	"Unknown"	""	"MRS brain reduced; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145984"	"01085"	"00185853"	"01815"	"Unknown"	""	"MRS brain jiddeke; creatine uptake cultured fibroblasts silvy"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145985"	"01085"	"00185854"	"01815"	"Isolated (sporadic)"	""	"MRS brain reduced; urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145986"	"01085"	"00185855"	"01815"	"Unknown"	""	"MRS brain reduced; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145987"	"00139"	"00185856"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145988"	"01085"	"00185857"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145989"	"01085"	"00185858"	"01815"	"Unknown"	""	"MRS brain cr absent; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145990"	"01085"	"00185859"	"01815"	"Unknown"	""	"MRS brain cr absent; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145991"	"00000"	"00185860"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000145992"	"00139"	"00185861"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no conclusion about SLC6A8 defect"	""
"0000145993"	"00139"	"00185862"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000145994"	"01085"	"00185863"	"01815"	"Unknown"	""	"MRS brain cr absent; urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145995"	"01085"	"00185864"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145996"	"01085"	"00185865"	"01815"	"Unknown"	""	"MRS brain cr absent; urinary creatine/creatinine ratio 3.0 / 3.4; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145997"	"01085"	"00185866"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000145998"	"01085"	"00185867"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000145999"	"01085"	"00185868"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146000"	"01085"	"00185869"	"01815"	"Unknown"	""	"MRS brain severely decreased cr; urinary creatine/creatinine ratio 5.2; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146001"	"01085"	"00185870"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts normal"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146002"	"00139"	"00185871"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146003"	"01085"	"00185872"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146004"	"01085"	"00185873"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146005"	"01085"	"00185874"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146006"	"01085"	"00185875"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146007"	"01085"	"00185876"	"01815"	"Unknown"	""	"MRS brain absent; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146008"	"01085"	"00185877"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146009"	"01085"	"00185878"	"01815"	"Isolated (sporadic)"	""	"MRS brain cr absent; urinary creatine/creatinine ratio 2.0; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146010"	"01085"	"00185879"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146011"	"01085"	"00185880"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146012"	"01085"	"00185881"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1.105"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146013"	"01085"	"00185882"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0.268"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146014"	"01085"	"00185883"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146015"	"01085"	"00185884"	"01815"	"Unknown"	""	"MRS brain low-near absent cr; urinary creatine/creatinine ratio 3.7; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146016"	"01085"	"00185885"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146017"	"01085"	"00185886"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 4.8; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146018"	"01085"	"00185887"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1.4"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146019"	"00139"	"00185888"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146020"	"00139"	"00185889"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio normal; creatine uptake cultured fibroblasts normal"	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146021"	"00139"	"00185890"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146022"	"00139"	"00185891"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146023"	"01085"	"00185892"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146024"	"01085"	"00185893"	"01815"	"Unknown"	""	"MRS brain nearly absent; urinary creatine/creatinine ratio 2.6; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146025"	"01085"	"00185894"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146026"	"01085"	"00185895"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146027"	"01085"	"00185896"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146028"	"01085"	"00185897"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146029"	"01085"	"00185898"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146030"	"01085"	"00185899"	"01815"	"Unknown"	""	"MRS brain creatine peak absent; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146031"	"01085"	"00185900"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146032"	"01085"	"00185901"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146033"	"00000"	"00185902"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146034"	"00000"	"00185903"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146035"	"00000"	"00185904"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146036"	"00139"	"00185905"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146037"	"00139"	"00185906"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146038"	"00139"	"00185907"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146039"	"00139"	"00185908"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146040"	"00139"	"00185909"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146041"	"00139"	"00185910"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146042"	"00139"	"00185911"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146043"	"01085"	"00185912"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146044"	"00139"	"00185913"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146045"	"01085"	"00185914"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146046"	"01085"	"00185915"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146047"	"01085"	"00185916"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146048"	"01085"	"00185917"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146049"	"01085"	"00185918"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146050"	"01085"	"00185919"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146051"	"01085"	"00185920"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.9 / 3.02"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146052"	"01085"	"00185921"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146053"	"01085"	"00185922"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0.43"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146054"	"01085"	"00185923"	"01815"	"Unknown"	""	"MRS brain cr low-near absent; urinary creatine/creatinine ratio 2.9; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146055"	"01085"	"00185924"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146056"	"01085"	"00185925"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146057"	"01085"	"00185926"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 3.0"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146058"	"01085"	"00185927"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146059"	"01085"	"00185928"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 4.5"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146060"	"01085"	"00185929"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146061"	"01085"	"00185930"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146062"	"01085"	"00185931"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 3.6; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146063"	"01085"	"00185932"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1.9"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146064"	"01085"	"00185933"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146065"	"01085"	"00185934"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146066"	"01085"	"00185935"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146067"	"01085"	"00185936"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146068"	"01085"	"00185937"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146069"	"01085"	"00185938"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146070"	"01085"	"00185939"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146071"	"00139"	"00185940"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146072"	"00139"	"00185941"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146073"	"00139"	"00185942"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146074"	"00139"	"00185943"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146075"	"00139"	"00185944"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146076"	"01085"	"00185945"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146077"	"01085"	"00185946"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146078"	"01085"	"00185947"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146079"	"01085"	"00185948"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146080"	"01085"	"00185949"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146081"	"01085"	"00185950"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146082"	"01085"	"00185951"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146083"	"01085"	"00185952"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146084"	"01085"	"00185953"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.3; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146085"	"01085"	"00185954"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146086"	"01085"	"00185955"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146087"	"01085"	"00185956"	"01815"	"Unknown"	""	"MRS brain reduced; urinary creatine/creatinine ratio 0,75"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146088"	"01085"	"00185957"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0,95"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146089"	"01085"	"00185958"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1,92"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146090"	"01085"	"00185959"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146091"	"01085"	"00185960"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.3"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146092"	"01085"	"00185961"	"01815"	"Unknown"	""	"MRS brain reduced; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146093"	"01085"	"00185962"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146094"	"01085"	"00185963"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146095"	"01085"	"00185964"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146096"	"01085"	"00185965"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146097"	"00000"	"00185966"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146098"	"00139"	"00185967"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146099"	"00139"	"00185968"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146100"	"01085"	"00185969"	"01815"	"Unknown"	""	"MRS brain near absent; urinary creatine/creatinine ratio 4.1; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146101"	"01085"	"00185970"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146102"	"00000"	"00185971"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146103"	"00139"	"00185972"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146104"	"01085"	"00185973"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 3.9"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146105"	"01085"	"00185974"	"01815"	"Unknown"	""	"MRS brain cr absent; urinary creatine/creatinine ratio 1.2"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146106"	"00198"	"00185975"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.1"	""	""	""	""	""	""	""	""	""	""	""	""
"0000146107"	"01085"	"00185976"	"01815"	"Isolated (sporadic)"	""	"urinary creatine/creatinine ratio 1.6; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146109"	"01085"	"00185978"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.5"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146110"	"00000"	"00185979"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000146111"	"00139"	"00185980"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146112"	"00139"	"00185981"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146113"	"00139"	"00185982"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146114"	"00139"	"00185983"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146115"	"01085"	"00185984"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146116"	"01085"	"00185985"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146117"	"01085"	"00185986"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146118"	"00139"	"00185987"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146119"	"01085"	"00185988"	"01815"	"Unknown"	""	"MRS brain reduced; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146120"	"01085"	"00185989"	"01815"	"Unknown"	""	"MRS brain reduced; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146121"	"01085"	"00185990"	"01815"	"Unknown"	""	"creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146122"	"00139"	"00185991"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146123"	"00139"	"00185992"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146124"	"00139"	"00185993"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146125"	"00139"	"00185994"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio normal"	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146126"	"01085"	"00185995"	"01815"	"Unknown"	""	"MRS brain reduced creatine; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146127"	"01085"	"00185996"	"01815"	"Unknown"	""	"MRS brain normal"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146128"	"00139"	"00185997"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146129"	"00139"	"00185998"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146130"	"00000"	"00185999"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146131"	"01085"	"00186000"	"01815"	"Unknown"	""	"MRS brain moderately reduced; urinary creatine/creatinine ratio mild increased; creatine uptake cultured fibroblasts semi deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146132"	"01085"	"00186001"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146133"	"01085"	"00186002"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146134"	"01085"	"00186003"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146135"	"01085"	"00186004"	"01815"	"Unknown"	""	"MRS brain low-near absent; urinary creatine/creatinine ratio 4.6; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146136"	"01085"	"00186005"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146137"	"01085"	"00186006"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1.83"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146138"	"01085"	"00186007"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146139"	"01085"	"00186008"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146140"	"01085"	"00186009"	"01815"	"Unknown"	""	"MRS brain reduced; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146141"	"01085"	"00186010"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146142"	"00000"	"00186011"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146143"	"00000"	"00186012"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"control"	""
"0000146144"	"00139"	"00186013"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146145"	"00139"	"00186014"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, most likely no SLC6A8 defect"	""
"0000146146"	"00139"	"00186015"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146148"	"00139"	"00186017"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146149"	"00198"	"00186018"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"PDDNOS, most likely no SLC6A8 defect"	""
"0000146151"	"01085"	"00186020"	"01815"	"Unknown"	""	"MRS brain absent cr; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146153"	"01085"	"00186022"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2.0; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146154"	"01085"	"00186023"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 3.7; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146155"	"00139"	"00186024"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no conclusion about SLC6A8 defect"	""
"0000146156"	"01085"	"00186025"	"01815"	"Unknown"	""	"MRS brain low-near absent cr; urinary creatine/creatinine ratio 3.2; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146157"	"01085"	"00186026"	"01815"	"Unknown"	""	"MRS brain severely reduced cr; urinary creatine/creatinine ratio 3.0; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146158"	"01085"	"00186027"	"01815"	"Unknown"	""	"MRS brain severely reduced cr; urinary creatine/creatinine ratio 2.6; creatine uptake cultured fibroblasts deficient"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146159"	"01085"	"00186028"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146160"	"01085"	"00186029"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146161"	"01085"	"00186030"	"01815"	"Unknown"	""	"MRS brain low Cr; urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146162"	"01085"	"00186031"	"01815"	"Unknown"	""	"MRS brain slightly reduced; urinary creatine/creatinine ratio normal"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146163"	"01085"	"00186032"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146164"	"01085"	"00186033"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146165"	"01085"	"00186034"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146166"	"01085"	"00186035"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146167"	"01085"	"00186036"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146168"	"01085"	"00186037"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146169"	"01085"	"00186038"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146170"	"01085"	"00186039"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146171"	"01085"	"00186040"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146172"	"01085"	"00186041"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146173"	"01085"	"00186042"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146174"	"01085"	"00186043"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146175"	"01085"	"00186044"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146176"	"01085"	"00186045"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146177"	"01085"	"00186046"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146178"	"01085"	"00186047"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146180"	"01085"	"00186049"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146181"	"01085"	"00186050"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146182"	"01085"	"00186051"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146184"	"01085"	"00186053"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146185"	"01085"	"00186054"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146186"	"01085"	"00186055"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146188"	"01085"	"00186057"	"01815"	"Unknown"	""	"MRS brain decreased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146189"	"01085"	"00186058"	"01815"	"Unknown"	""	"MRS brain decreased; urinary creatine/creatinine ratio 6,2"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146190"	"01085"	"00186059"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 0,23"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146193"	"01085"	"00186062"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio increased"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146194"	"01085"	"00186063"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 2,24"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146195"	"01085"	"00186064"	"01815"	"Unknown"	""	"urinary creatine/creatinine ratio 1,84"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146196"	"01085"	"00186065"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146197"	"01085"	"00186066"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146198"	"01085"	"00186067"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146199"	"01085"	"00186068"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146202"	"01085"	"00186071"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146211"	"01085"	"00186080"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146212"	"01085"	"00186081"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146214"	"01085"	"00186083"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146217"	"01085"	"00186086"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146221"	"01085"	"00186090"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146228"	"01085"	"00186097"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146230"	"01085"	"00186099"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146231"	"01085"	"00186100"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146232"	"01085"	"00186101"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146233"	"01085"	"00186102"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146234"	"01085"	"00186103"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146235"	"01085"	"00186104"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146236"	"01085"	"00186105"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146237"	"01085"	"00186106"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146238"	"01085"	"00186107"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146239"	"01085"	"00186108"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146240"	"01085"	"00186109"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146241"	"01085"	"00186110"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146242"	"01085"	"00186111"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146243"	"01085"	"00186112"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146244"	"01085"	"00186113"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146248"	"01085"	"00186117"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146250"	"01085"	"00186119"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146251"	"01085"	"00186120"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146254"	"00139"	"00186123"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Mental retardation, no SLC6A8 defect"	""
"0000146263"	"01085"	"00186132"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146264"	"01085"	"00186133"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146265"	"01085"	"00186134"	"01815"	"Unknown"	""	"walk 18m; no epilepsy; no cereballar ataxia; no macrocephaly; extrapyramidal signs"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146266"	"01085"	"00186135"	"01815"	"Unknown"	""	"developmental delay; epilepsy; no cereballar ataxia; ?; extrapyramidal signs"	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146267"	"01085"	"00186136"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146268"	"01085"	"00186137"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146269"	"01085"	"00186138"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146271"	"01085"	"00186140"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146272"	"01085"	"00186141"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000146273"	"01085"	"00186142"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146274"	"01085"	"00186143"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146275"	"01085"	"00186144"	"01815"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 heterozygote"	""
"0000146282"	"01085"	"00186151"	"02594"	"Familial"	""	"developmental delay; no epilepsy; no macrocephaly; MRS brain Lack of a creatine peak; urinary creatine/creatinine ratio 2.9mmol/mol; creatine uptake cultured fibroblasts <10% of normal"	"10m"	""	""	""	""	""	""	""	""	"CCDS-1"	"SLC6A8 defect"	""
"0000156815"	"00198"	"00037142"	"01164"	"Unknown"	""	"developmental delay"	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000229753"	"00198"	"00302672"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Microcephaly (HP:0000252)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000238639"	"00198"	"00314881"	"00006"	"Isolated (sporadic)"	"6y"	"Athetoid cerebral palsy, developmental delays, seizure, recurrent vomiting."	"4m"	""	""	""	""	""	""	""	""	""	""	""
"0000238677"	"00198"	"00314919"	"00006"	"Familial, X-linked recessive"	""	"severe intellectual disability; onset congenital; no motor milestones; no cognitive problems"	""	""	""	""	""	""	""	""	""	"DDCH"	""	""
"0000238682"	"00198"	"00314924"	"00006"	"Isolated (sporadic)"	"06y"	"see paper; severe dystonia, profound intellectual disability, profound developmental disability, liver disease, sensorineural deafness, ..."	""	""	""	""	""	""	""	""	""	"DDCH"	""	""
"0000280316"	"00198"	"00386510"	"00006"	"Unknown"	""	"intellectual disability; developmental delay; failure to thrive; microcephaly; seizures (neurological)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000317308"	"00139"	"00426158"	"00006"	"Familial, X-linked recessive"	"5y"	""	""	""	""	""	""	""	""	""	""	"Cerebral creatine deficiency syndrome 1"	"intellectual disability"	""
"0000333778"	"05611"	"00444525"	"00006"	"Familial, X-linked recessive"	"02y-10y"	"Synophrys, Status epilepticus, Seizures, Recurrent singultus, Moderate global developmental delay, Infantile spasms, Hypoplasia of the corpus callosum, Fused teeth, Delayed speech and language development, Abnormal behavior"	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorders"	""
"0000354541"	"00198"	"00469388"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""


## Screenings ## Do not remove or alter this header ##
## Count = 334
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037207"	"00037137"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037208"	"00037138"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037209"	"00037139"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037210"	"00037140"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037211"	"00037141"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037212"	"00037142"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037213"	"00037143"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037214"	"00037144"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037215"	"00037145"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037216"	"00037146"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037217"	"00037147"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037218"	"00037148"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000165507"	"00164643"	"1"	"00006"	"00006"	"2018-06-02 18:52:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000184007"	"00183047"	"1"	"00006"	"00006"	"2018-10-12 16:28:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000184080"	"00183122"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000184081"	"00183123"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000184082"	"00183124"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000184083"	"00183125"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000184095"	"00183137"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000186750"	"00185783"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186751"	"00185784"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186752"	"00185785"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186753"	"00185786"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186754"	"00185787"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186755"	"00185788"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186756"	"00185789"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186757"	"00185790"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186758"	"00185791"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186759"	"00185792"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186760"	"00185793"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186761"	"00185794"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186762"	"00185795"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186763"	"00185796"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186764"	"00185797"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186765"	"00185798"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186766"	"00185799"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186767"	"00185800"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186768"	"00185801"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186769"	"00185802"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186770"	"00185803"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186772"	"00185805"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186773"	"00185806"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186774"	"00185807"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186775"	"00185808"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186785"	"00185818"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186786"	"00185819"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186787"	"00185820"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186788"	"00185821"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186789"	"00185822"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186790"	"00185823"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186791"	"00185824"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186792"	"00185825"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186793"	"00185826"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186794"	"00185827"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186795"	"00185828"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186796"	"00185829"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186797"	"00185830"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186798"	"00185831"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186799"	"00185832"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186800"	"00185833"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186801"	"00185834"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186802"	"00185835"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186803"	"00185836"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186804"	"00185837"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186805"	"00185838"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186806"	"00185839"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186807"	"00185840"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186808"	"00185841"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186809"	"00185842"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186810"	"00185843"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186811"	"00185844"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186812"	"00185845"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186813"	"00185846"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186814"	"00185847"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186815"	"00185848"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186816"	"00185849"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186817"	"00185850"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186818"	"00185851"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186819"	"00185852"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186820"	"00185853"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186821"	"00185854"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186822"	"00185855"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186823"	"00185856"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186824"	"00185857"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186825"	"00185858"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186826"	"00185859"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186827"	"00185860"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186828"	"00185861"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186829"	"00185862"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186830"	"00185863"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186831"	"00185864"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186832"	"00185865"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186833"	"00185866"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186834"	"00185867"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186835"	"00185868"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186836"	"00185869"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186837"	"00185870"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186838"	"00185871"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186839"	"00185872"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186840"	"00185873"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186841"	"00185874"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186842"	"00185875"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186843"	"00185876"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186844"	"00185877"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186845"	"00185878"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186846"	"00185879"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186847"	"00185880"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186848"	"00185881"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186849"	"00185882"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186850"	"00185883"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186851"	"00185884"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186852"	"00185885"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186853"	"00185886"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186854"	"00185887"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186855"	"00185888"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186856"	"00185889"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186857"	"00185890"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186858"	"00185891"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186859"	"00185892"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186860"	"00185893"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186861"	"00185894"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186862"	"00185895"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186863"	"00185896"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186864"	"00185897"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186865"	"00185898"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186866"	"00185899"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186867"	"00185900"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186868"	"00185901"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186869"	"00185902"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186870"	"00185903"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186871"	"00185904"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186872"	"00185905"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186873"	"00185906"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186874"	"00185907"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186875"	"00185908"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186876"	"00185909"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186877"	"00185910"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186878"	"00185911"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186879"	"00185912"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186880"	"00185913"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186881"	"00185914"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186882"	"00185915"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186883"	"00185916"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186884"	"00185917"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186885"	"00185918"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186886"	"00185919"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186887"	"00185920"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186888"	"00185921"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186889"	"00185922"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186890"	"00185923"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186891"	"00185924"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186892"	"00185925"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186893"	"00185926"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186894"	"00185927"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186895"	"00185928"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186896"	"00185929"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186897"	"00185930"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186898"	"00185931"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186899"	"00185932"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186900"	"00185933"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186901"	"00185934"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186902"	"00185935"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186903"	"00185936"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186904"	"00185937"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186905"	"00185938"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186906"	"00185939"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186907"	"00185940"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186908"	"00185941"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA"	""	""
"0000186909"	"00185942"	"1"	"01815"	"01815"	"2016-01-26 15:07:50"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186910"	"00185943"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186911"	"00185944"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186912"	"00185945"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186913"	"00185946"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186914"	"00185947"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186915"	"00185948"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186916"	"00185949"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186917"	"00185950"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186918"	"00185951"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186919"	"00185952"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186920"	"00185953"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186921"	"00185954"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186922"	"00185955"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186923"	"00185956"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186924"	"00185957"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186925"	"00185958"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186926"	"00185959"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186927"	"00185960"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186928"	"00185961"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186929"	"00185962"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186930"	"00185963"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186931"	"00185964"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186932"	"00185965"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186933"	"00185966"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186934"	"00185967"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186935"	"00185968"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186936"	"00185969"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186937"	"00185970"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186938"	"00185971"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186939"	"00185972"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186940"	"00185973"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186941"	"00185974"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186942"	"00185975"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186943"	"00185976"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186945"	"00185978"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186946"	"00185979"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186947"	"00185980"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186948"	"00185981"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186949"	"00185982"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186950"	"00185983"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186951"	"00185984"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186952"	"00185985"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186953"	"00185986"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186954"	"00185987"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186955"	"00185988"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186956"	"00185989"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186957"	"00185990"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186958"	"00185991"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186959"	"00185992"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186960"	"00185993"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186961"	"00185994"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186962"	"00185995"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186963"	"00185996"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186964"	"00185997"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186965"	"00185998"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186966"	"00185999"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186967"	"00186000"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186968"	"00186001"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186969"	"00186002"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186970"	"00186003"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186971"	"00186004"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186972"	"00186005"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186973"	"00186006"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186974"	"00186007"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186975"	"00186008"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186976"	"00186009"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186977"	"00186010"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186978"	"00186011"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186979"	"00186012"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186980"	"00186013"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186981"	"00186014"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186982"	"00186015"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000186984"	"00186017"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186985"	"00186018"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186987"	"00186020"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186989"	"00186022"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"MLPA"	"DNA"	""	""
"0000186990"	"00186023"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"MLPA"	"DNA"	""	""
"0000186991"	"00186024"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186992"	"00186025"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186993"	"00186026"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186994"	"00186027"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186995"	"00186028"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186996"	"00186029"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186997"	"00186030"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186998"	"00186031"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000186999"	"00186032"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187000"	"00186033"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187001"	"00186034"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187002"	"00186035"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187003"	"00186036"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187004"	"00186037"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187005"	"00186038"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187006"	"00186039"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187007"	"00186040"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187008"	"00186041"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187009"	"00186042"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187010"	"00186043"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187011"	"00186044"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187012"	"00186045"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187013"	"00186046"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187014"	"00186047"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187016"	"00186049"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187017"	"00186050"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187018"	"00186051"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187020"	"00186053"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187021"	"00186054"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187022"	"00186055"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187024"	"00186057"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187025"	"00186058"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187026"	"00186059"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187029"	"00186062"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187030"	"00186063"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187031"	"00186064"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187032"	"00186065"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187033"	"00186066"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187034"	"00186067"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187035"	"00186068"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187038"	"00186071"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187047"	"00186080"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187048"	"00186081"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187050"	"00186083"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187053"	"00186086"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187057"	"00186090"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187064"	"00186097"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187066"	"00186099"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187067"	"00186100"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187068"	"00186101"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187069"	"00186102"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187070"	"00186103"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187071"	"00186104"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187072"	"00186105"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187073"	"00186106"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187074"	"00186107"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187075"	"00186108"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187076"	"00186109"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187077"	"00186110"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187078"	"00186111"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187079"	"00186112"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187080"	"00186113"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187084"	"00186117"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187086"	"00186119"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187087"	"00186120"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187090"	"00186123"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187099"	"00186132"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187100"	"00186133"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187101"	"00186134"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187102"	"00186135"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187103"	"00186136"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187104"	"00186137"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187105"	"00186138"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187107"	"00186140"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187108"	"00186141"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187109"	"00186142"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187110"	"00186143"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187111"	"00186144"	"1"	"01815"	"01815"	"2016-01-26 15:07:51"	""	""	"SEQ"	"DNA"	""	""
"0000187118"	"00186151"	"1"	"02594"	"01815"	"2016-05-02 15:06:40"	""	""	"SEQ"	"DNA"	""	""
"0000302166"	"00301045"	"1"	"01815"	"03070"	"2020-05-06 10:43:28"	"00006"	"2020-05-07 10:26:57"	"SEQ-NG"	"DNA"	""	""
"0000303797"	"00302672"	"1"	"01807"	"01807"	"2020-05-27 17:20:02"	""	""	"SEQ"	"DNA"	""	""
"0000316055"	"00314881"	"1"	"00006"	"00006"	"2020-10-20 15:09:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000316093"	"00314919"	"1"	"00006"	"00006"	"2020-10-20 19:02:47"	""	""	"SEQ"	"DNA"	""	""
"0000316098"	"00314924"	"1"	"00006"	"00006"	"2020-10-20 19:14:29"	""	""	"PCR;PCRlr;RT-PCR;SEQ"	"DNA"	""	""
"0000387737"	"00386510"	"1"	"00006"	"00006"	"2021-10-22 17:45:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000427478"	"00426158"	"1"	"00006"	"00006"	"2022-11-28 11:02:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446093"	"00444525"	"1"	"00006"	"00006"	"2023-12-24 18:16:19"	""	""	"SEQ-NG"	"DNA"	""	"WES, WGS"
"0000471056"	"00469388"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 329
"{{screeningid}}"	"{{geneid}}"
"0000037207"	"SLC6A8"
"0000037208"	"SLC6A8"
"0000037209"	"SLC6A8"
"0000037210"	"SLC6A8"
"0000037211"	"SLC6A8"
"0000037212"	"SLC6A8"
"0000037213"	"SLC6A8"
"0000037214"	"SLC6A8"
"0000037215"	"SLC6A8"
"0000037216"	"SLC6A8"
"0000037217"	"SLC6A8"
"0000037218"	"SLC6A8"
"0000165507"	"SLC6A8"
"0000184080"	"SLC6A8"
"0000184081"	"SLC6A8"
"0000184082"	"SLC6A8"
"0000184083"	"SLC6A8"
"0000184095"	"MECP2"
"0000186750"	"SLC6A8"
"0000186751"	"SLC6A8"
"0000186752"	"SLC6A8"
"0000186753"	"SLC6A8"
"0000186754"	"SLC6A8"
"0000186755"	"SLC6A8"
"0000186756"	"SLC6A8"
"0000186757"	"SLC6A8"
"0000186758"	"SLC6A8"
"0000186759"	"SLC6A8"
"0000186760"	"SLC6A8"
"0000186761"	"SLC6A8"
"0000186762"	"SLC6A8"
"0000186763"	"SLC6A8"
"0000186764"	"SLC6A8"
"0000186765"	"SLC6A8"
"0000186766"	"SLC6A8"
"0000186767"	"SLC6A8"
"0000186768"	"SLC6A8"
"0000186769"	"SLC6A8"
"0000186770"	"SLC6A8"
"0000186772"	"SLC6A8"
"0000186773"	"SLC6A8"
"0000186774"	"SLC6A8"
"0000186775"	"SLC6A8"
"0000186785"	"SLC6A8"
"0000186786"	"SLC6A8"
"0000186787"	"SLC6A8"
"0000186788"	"SLC6A8"
"0000186789"	"SLC6A8"
"0000186790"	"SLC6A8"
"0000186791"	"SLC6A8"
"0000186792"	"SLC6A8"
"0000186793"	"SLC6A8"
"0000186794"	"SLC6A8"
"0000186795"	"SLC6A8"
"0000186796"	"SLC6A8"
"0000186797"	"SLC6A8"
"0000186798"	"SLC6A8"
"0000186799"	"SLC6A8"
"0000186800"	"SLC6A8"
"0000186801"	"SLC6A8"
"0000186802"	"SLC6A8"
"0000186803"	"SLC6A8"
"0000186804"	"SLC6A8"
"0000186805"	"SLC6A8"
"0000186806"	"SLC6A8"
"0000186807"	"SLC6A8"
"0000186808"	"SLC6A8"
"0000186809"	"SLC6A8"
"0000186810"	"SLC6A8"
"0000186811"	"SLC6A8"
"0000186812"	"SLC6A8"
"0000186813"	"SLC6A8"
"0000186814"	"SLC6A8"
"0000186815"	"SLC6A8"
"0000186816"	"SLC6A8"
"0000186817"	"SLC6A8"
"0000186818"	"SLC6A8"
"0000186819"	"SLC6A8"
"0000186820"	"SLC6A8"
"0000186821"	"SLC6A8"
"0000186822"	"SLC6A8"
"0000186823"	"SLC6A8"
"0000186824"	"SLC6A8"
"0000186825"	"SLC6A8"
"0000186826"	"SLC6A8"
"0000186827"	"SLC6A8"
"0000186828"	"SLC6A8"
"0000186829"	"SLC6A8"
"0000186830"	"SLC6A8"
"0000186831"	"SLC6A8"
"0000186832"	"SLC6A8"
"0000186833"	"SLC6A8"
"0000186834"	"SLC6A8"
"0000186835"	"SLC6A8"
"0000186836"	"SLC6A8"
"0000186837"	"SLC6A8"
"0000186838"	"SLC6A8"
"0000186839"	"SLC6A8"
"0000186840"	"SLC6A8"
"0000186841"	"SLC6A8"
"0000186842"	"SLC6A8"
"0000186843"	"SLC6A8"
"0000186844"	"SLC6A8"
"0000186845"	"SLC6A8"
"0000186846"	"SLC6A8"
"0000186847"	"SLC6A8"
"0000186848"	"SLC6A8"
"0000186849"	"SLC6A8"
"0000186850"	"SLC6A8"
"0000186851"	"SLC6A8"
"0000186852"	"SLC6A8"
"0000186853"	"SLC6A8"
"0000186854"	"SLC6A8"
"0000186855"	"SLC6A8"
"0000186856"	"SLC6A8"
"0000186857"	"SLC6A8"
"0000186858"	"SLC6A8"
"0000186859"	"SLC6A8"
"0000186860"	"SLC6A8"
"0000186861"	"SLC6A8"
"0000186862"	"SLC6A8"
"0000186863"	"SLC6A8"
"0000186864"	"SLC6A8"
"0000186865"	"SLC6A8"
"0000186866"	"SLC6A8"
"0000186867"	"SLC6A8"
"0000186868"	"SLC6A8"
"0000186869"	"SLC6A8"
"0000186870"	"SLC6A8"
"0000186871"	"SLC6A8"
"0000186872"	"SLC6A8"
"0000186873"	"SLC6A8"
"0000186874"	"SLC6A8"
"0000186875"	"SLC6A8"
"0000186876"	"SLC6A8"
"0000186877"	"SLC6A8"
"0000186878"	"SLC6A8"
"0000186879"	"SLC6A8"
"0000186880"	"SLC6A8"
"0000186881"	"SLC6A8"
"0000186882"	"SLC6A8"
"0000186883"	"SLC6A8"
"0000186884"	"SLC6A8"
"0000186885"	"SLC6A8"
"0000186886"	"SLC6A8"
"0000186887"	"SLC6A8"
"0000186888"	"SLC6A8"
"0000186889"	"SLC6A8"
"0000186890"	"SLC6A8"
"0000186891"	"SLC6A8"
"0000186892"	"SLC6A8"
"0000186893"	"SLC6A8"
"0000186894"	"SLC6A8"
"0000186895"	"SLC6A8"
"0000186896"	"SLC6A8"
"0000186897"	"SLC6A8"
"0000186898"	"SLC6A8"
"0000186899"	"SLC6A8"
"0000186900"	"SLC6A8"
"0000186901"	"SLC6A8"
"0000186902"	"SLC6A8"
"0000186903"	"SLC6A8"
"0000186904"	"SLC6A8"
"0000186905"	"SLC6A8"
"0000186906"	"SLC6A8"
"0000186907"	"SLC6A8"
"0000186908"	"SLC6A8"
"0000186909"	"SLC6A8"
"0000186910"	"SLC6A8"
"0000186911"	"SLC6A8"
"0000186912"	"SLC6A8"
"0000186913"	"SLC6A8"
"0000186914"	"SLC6A8"
"0000186915"	"SLC6A8"
"0000186916"	"SLC6A8"
"0000186917"	"SLC6A8"
"0000186918"	"SLC6A8"
"0000186919"	"SLC6A8"
"0000186920"	"SLC6A8"
"0000186921"	"SLC6A8"
"0000186922"	"SLC6A8"
"0000186923"	"SLC6A8"
"0000186924"	"SLC6A8"
"0000186925"	"SLC6A8"
"0000186926"	"SLC6A8"
"0000186927"	"SLC6A8"
"0000186928"	"SLC6A8"
"0000186929"	"SLC6A8"
"0000186930"	"SLC6A8"
"0000186931"	"SLC6A8"
"0000186932"	"SLC6A8"
"0000186933"	"SLC6A8"
"0000186934"	"SLC6A8"
"0000186935"	"SLC6A8"
"0000186936"	"SLC6A8"
"0000186937"	"SLC6A8"
"0000186938"	"SLC6A8"
"0000186939"	"SLC6A8"
"0000186940"	"SLC6A8"
"0000186941"	"SLC6A8"
"0000186942"	"SLC6A8"
"0000186943"	"SLC6A8"
"0000186945"	"SLC6A8"
"0000186946"	"SLC6A8"
"0000186947"	"SLC6A8"
"0000186948"	"SLC6A8"
"0000186949"	"SLC6A8"
"0000186950"	"SLC6A8"
"0000186951"	"SLC6A8"
"0000186952"	"SLC6A8"
"0000186953"	"SLC6A8"
"0000186954"	"SLC6A8"
"0000186955"	"SLC6A8"
"0000186956"	"SLC6A8"
"0000186957"	"SLC6A8"
"0000186958"	"SLC6A8"
"0000186959"	"SLC6A8"
"0000186960"	"SLC6A8"
"0000186961"	"SLC6A8"
"0000186962"	"SLC6A8"
"0000186963"	"SLC6A8"
"0000186964"	"SLC6A8"
"0000186965"	"SLC6A8"
"0000186966"	"SLC6A8"
"0000186967"	"SLC6A8"
"0000186968"	"SLC6A8"
"0000186969"	"SLC6A8"
"0000186970"	"SLC6A8"
"0000186971"	"SLC6A8"
"0000186972"	"SLC6A8"
"0000186973"	"SLC6A8"
"0000186974"	"SLC6A8"
"0000186975"	"SLC6A8"
"0000186976"	"SLC6A8"
"0000186977"	"SLC6A8"
"0000186978"	"SLC6A8"
"0000186979"	"SLC6A8"
"0000186980"	"SLC6A8"
"0000186981"	"SLC6A8"
"0000186982"	"SLC6A8"
"0000186984"	"SLC6A8"
"0000186985"	"SLC6A8"
"0000186987"	"SLC6A8"
"0000186989"	"SLC6A8"
"0000186990"	"SLC6A8"
"0000186991"	"SLC6A8"
"0000186992"	"SLC6A8"
"0000186993"	"SLC6A8"
"0000186994"	"SLC6A8"
"0000186995"	"SLC6A8"
"0000186996"	"SLC6A8"
"0000186997"	"SLC6A8"
"0000186998"	"SLC6A8"
"0000186999"	"SLC6A8"
"0000187000"	"SLC6A8"
"0000187001"	"SLC6A8"
"0000187002"	"SLC6A8"
"0000187003"	"SLC6A8"
"0000187004"	"SLC6A8"
"0000187005"	"SLC6A8"
"0000187006"	"SLC6A8"
"0000187007"	"SLC6A8"
"0000187008"	"SLC6A8"
"0000187009"	"SLC6A8"
"0000187010"	"SLC6A8"
"0000187011"	"SLC6A8"
"0000187012"	"SLC6A8"
"0000187013"	"SLC6A8"
"0000187014"	"SLC6A8"
"0000187016"	"SLC6A8"
"0000187017"	"SLC6A8"
"0000187018"	"SLC6A8"
"0000187020"	"SLC6A8"
"0000187021"	"SLC6A8"
"0000187022"	"SLC6A8"
"0000187024"	"SLC6A8"
"0000187025"	"SLC6A8"
"0000187026"	"SLC6A8"
"0000187029"	"SLC6A8"
"0000187030"	"SLC6A8"
"0000187031"	"SLC6A8"
"0000187032"	"SLC6A8"
"0000187033"	"SLC6A8"
"0000187034"	"SLC6A8"
"0000187035"	"SLC6A8"
"0000187038"	"SLC6A8"
"0000187047"	"SLC6A8"
"0000187048"	"SLC6A8"
"0000187050"	"SLC6A8"
"0000187053"	"SLC6A8"
"0000187057"	"SLC6A8"
"0000187064"	"SLC6A8"
"0000187066"	"SLC6A8"
"0000187067"	"SLC6A8"
"0000187068"	"SLC6A8"
"0000187069"	"SLC6A8"
"0000187070"	"SLC6A8"
"0000187071"	"SLC6A8"
"0000187072"	"SLC6A8"
"0000187073"	"SLC6A8"
"0000187074"	"SLC6A8"
"0000187075"	"SLC6A8"
"0000187076"	"SLC6A8"
"0000187077"	"SLC6A8"
"0000187078"	"SLC6A8"
"0000187079"	"SLC6A8"
"0000187080"	"SLC6A8"
"0000187084"	"SLC6A8"
"0000187086"	"SLC6A8"
"0000187087"	"SLC6A8"
"0000187090"	"SLC6A8"
"0000187099"	"SLC6A8"
"0000187100"	"SLC6A8"
"0000187101"	"SLC6A8"
"0000187102"	"SLC6A8"
"0000187103"	"SLC6A8"
"0000187104"	"SLC6A8"
"0000187105"	"SLC6A8"
"0000187107"	"SLC6A8"
"0000187108"	"SLC6A8"
"0000187109"	"SLC6A8"
"0000187110"	"SLC6A8"
"0000187111"	"SLC6A8"
"0000187118"	"SLC6A8"
"0000302166"	"SLC6A8"
"0000316055"	"SLC6A8"
"0000316093"	"BCAP31"
"0000316098"	"BCAP31"
"0000316098"	"SLC6A8"


## 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 = 443
"{{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}}"
"0000064332"	"1"	"50"	"X"	"152959128"	"152959128"	"subst"	"0"	"01164"	"SLC6A8_003067"	"g.152959128A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693673A>G"	""	"VUS"	""
"0000064333"	"1"	"90"	"X"	"152959988"	"152959990"	"del"	"0"	"01164"	"SLC6A8_003190"	"g.152959988_152959990del"	"1496_1498delGAG"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694533_153694535del"	""	"pathogenic"	""
"0000064334"	"1"	"90"	"X"	"152958811"	"152958813"	"del"	"0"	"01164"	"SLC6A8_003051"	"g.152958811_152958813del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic"	""
"0000064335"	"1"	"90"	"X"	"152959440"	"152959442"	"del"	"0"	"01164"	"SLC6A8_003082"	"g.152959440_152959442del"	"1222_1224delTTC"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic"	""
"0000064336"	"1"	"90"	"X"	"152956905"	"152956905"	"subst"	"0"	"01164"	"SLC6A8_003028"	"g.152956905T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153691450T>C"	""	"pathogenic"	""
"0000064337"	"1"	"50"	"X"	"152956049"	"152956049"	"subst"	"0"	"01164"	"SLC6A8_003024"	"g.152956049G>A"	""	""	""	""	""	"Germline"	""	"rs6643763"	"0"	""	""	"g.153690594G>A"	""	"VUS"	""
"0000064338"	"1"	"50"	"X"	"152956049"	"152956049"	"subst"	"0"	"01164"	"SLC6A8_003024"	"g.152956049G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153690594G>A"	""	"VUS"	""
"0000064339"	"1"	"10"	"X"	"152954317"	"152954317"	"subst"	"0.0940589"	"01164"	"SLC6A8_003011"	"g.152954317T>C"	""	""	""	""	""	"Germline"	""	"rs192387453"	"0"	""	""	"g.153688862T>C"	""	"benign"	""
"0000064340"	"1"	"10"	"X"	"152959078"	"152959078"	"subst"	"0.0954594"	"01164"	"SLC6A8_003066"	"g.152959078G>A"	""	""	""	""	""	"Germline"	""	"rs2071028"	"0"	""	""	"g.153693623G>A"	""	"benign"	""
"0000064341"	"1"	"50"	"X"	"152955735"	"152955735"	"subst"	"0"	"01164"	"SLC6A8_003174"	"g.152955735G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153690280G>A"	""	"VUS"	""
"0000064342"	"1"	"10"	"X"	"152958531"	"152958531"	"subst"	"0.00335948"	"01164"	"SLC6A8_003041"	"g.152958531C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693076C>T"	""	"benign"	""
"0000064343"	"1"	"50"	"X"	"152954025"	"152954025"	"subst"	"0.99987"	"01164"	"SLC6A8_003188"	"g.152954025A>G"	""	""	""	""	"also found in wild type"	"Germline"	""	"rs384573"	"0"	""	""	"g.153688570A>G"	""	"VUS"	""
"0000248242"	"0"	"10"	"X"	"152954025"	"152954025"	"subst"	"0.99987"	"02325"	"SLC6A8_003188"	"g.152954025A>G"	""	""	""	"SLC6A8(NM_005629.4):c.-5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153688570A>G"	""	"benign"	""
"0000250945"	"0"	"10"	"X"	"152954025"	"152954025"	"subst"	"0.99987"	"02326"	"SLC6A8_003188"	"g.152954025A>G"	""	""	""	"SLC6A8(NM_005629.4):c.-5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153688570A>G"	""	"benign"	""
"0000251928"	"0"	"30"	"X"	"152960255"	"152960255"	"subst"	"0.00163009"	"02326"	"SLC6A8_003126"	"g.152960255A>G"	""	""	""	"SLC6A8(NM_001142805.1):c.1648A>G (p.(Met550Val)), SLC6A8(NM_005629.4):c.1678A>G (p.M560V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694800A>G"	""	"likely benign"	""
"0000298354"	"0"	"30"	"X"	"152958938"	"152958938"	"subst"	"5.03587E-5"	"02325"	"SLC6A8_003202"	"g.152958938C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1038C>T (p.L346=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153693483C>T"	""	"likely benign"	""
"0000298355"	"0"	"30"	"X"	"152959970"	"152959970"	"subst"	"0.00508075"	"02325"	"SLC6A8_003110"	"g.152959970C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1496-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694515C>T"	""	"likely benign"	""
"0000298356"	"0"	"30"	"X"	"152960359"	"152960359"	"subst"	"0.000303545"	"02325"	"SLC6A8_003128"	"g.152960359C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1767+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694904C>T"	""	"likely benign"	""
"0000298357"	"0"	"30"	"X"	"152957017"	"152957017"	"subst"	"2.84227E-5"	"02325"	"SLC6A8_003032"	"g.152957017G>A"	""	""	""	"SLC6A8(NM_005629.4):c.644+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153691562G>A"	""	"likely benign"	""
"0000302295"	"0"	"30"	"X"	"152958830"	"152958830"	"subst"	"0.000576595"	"02326"	"SLC6A8_003054"	"g.152958830C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153693375C>T"	""	"likely benign"	""
"0000302296"	"0"	"30"	"X"	"152959983"	"152959983"	"subst"	"0.00140098"	"02326"	"SLC6A8_003107"	"g.152959983C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1496-5C>T, SLC6A8(NM_005629.4):c.1496-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694528C>T"	""	"likely benign"	""
"0000302297"	"0"	"10"	"X"	"152960359"	"152960359"	"subst"	"0.000303545"	"02326"	"SLC6A8_003128"	"g.152960359C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1767+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694904C>T"	""	"benign"	""
"0000302298"	"0"	"10"	"X"	"152960526"	"152960526"	"subst"	"0.00444637"	"02326"	"SLC6A8_003131"	"g.152960526C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1768-3C>T, SLC6A8(NM_005629.4):c.1768-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153695071C>T"	""	"benign"	""
"0000302299"	"0"	"30"	"X"	"152956908"	"152956908"	"subst"	"5.60202E-5"	"02326"	"SLC6A8_003029"	"g.152956908G>A"	""	""	""	"SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153691453G>A"	""	"likely benign"	""
"0000302300"	"0"	"10"	"X"	"152957566"	"152957566"	"subst"	"0.000539354"	"02326"	"SLC6A8_003035"	"g.152957566C>T"	""	""	""	"SLC6A8(NM_005629.3):c.777+4C>T, SLC6A8(NM_005629.4):c.777+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153692111C>T"	""	"benign"	""
"0000302301"	"0"	"10"	"X"	"152958375"	"152958375"	"subst"	"0"	"02326"	"SLC6A8_003199"	"g.152958375T>C"	""	""	""	"SLC6A8(NM_005629.4):c.778-121T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153692920T>C"	""	"benign"	""
"0000308509"	"0"	"10"	"X"	"152959900"	"152959900"	"subst"	"0.00214782"	"01943"	"SLC6A8_003105"	"g.152959900C>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1464C>T (p.(=)), SLC6A8(NM_005629.3):c.1494C>T (p.Y498=), SLC6A8(NM_005629.4):c.1494C>T (p.Y498=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694445C>T"	""	"benign"	""
"0000308510"	"0"	"70"	"X"	"152960208"	"152960208"	"subst"	"0"	"01943"	"SLC6A8_003122"	"g.152960208C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1631C>T (p.P544L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic"	""
"0000308511"	"0"	"30"	"X"	"152960226"	"152960226"	"subst"	"0.000297597"	"01943"	"SLC6A8_003153"	"g.152960226C>G"	""	""	""	"SLC6A8(NM_001142805.1):c.1619C>G (p.(Thr540Ser)), SLC6A8(NM_005629.3):c.1649C>G (p.T550S), SLC6A8(NM_005629.4):c.1649C>G (p.T550S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694771C>G"	""	"likely benign"	""
"0000308512"	"0"	"30"	"X"	"152960269"	"152960269"	"subst"	"0.000107932"	"01943"	"SLC6A8_003214"	"g.152960269C>G"	""	""	""	"SLC6A8(NM_001142805.2):c.1662C>G (p.F554L), SLC6A8(NM_005629.3):c.1692C>G (p.F564L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694814C>G"	""	"likely benign"	""
"0000308513"	"0"	"30"	"X"	"152960526"	"152960526"	"subst"	"0.00444637"	"01943"	"SLC6A8_003131"	"g.152960526C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1768-3C>T, SLC6A8(NM_005629.4):c.1768-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153695071C>T"	""	"likely benign"	""
"0000308514"	"0"	"30"	"X"	"152958531"	"152958531"	"subst"	"0.00335948"	"01943"	"SLC6A8_003041"	"g.152958531C>T"	""	""	""	"SLC6A8(NM_005629.3):c.813C>T (p.V271=), SLC6A8(NM_005629.4):c.813C>T (p.V271=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153693076C>T"	""	"likely benign"	""
"0000336027"	"0"	"50"	"X"	"152958488"	"152958488"	"subst"	"0.000118296"	"01804"	"SLC6A8_003200"	"g.152958488C>G"	""	""	""	"SLC6A8(NM_001142805.1):c.778-8C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153693033C>G"	""	"VUS"	""
"0000336028"	"0"	"50"	"X"	"152959661"	"152959669"	"del"	"0"	"01804"	"SLC6A8_003203"	"g.152959661_152959669del"	""	""	""	"SLC6A8(NM_005629.3):c.1330_1338del (p.(Glu444_Ser446del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694206_153694214del"	""	"VUS"	""
"0000336029"	"0"	"30"	"X"	"152959865"	"152959865"	"subst"	"0"	"01804"	"SLC6A8_003204"	"g.152959865G>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1429G>T (p.(Ala477Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694410G>T"	""	"likely benign"	""
"0000336030"	"0"	"30"	"X"	"152959900"	"152959900"	"subst"	"0.00214782"	"01804"	"SLC6A8_003105"	"g.152959900C>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1464C>T (p.(=)), SLC6A8(NM_005629.3):c.1494C>T (p.Y498=), SLC6A8(NM_005629.4):c.1494C>T (p.Y498=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694445C>T"	""	"likely benign"	""
"0000336032"	"0"	"50"	"X"	"152959996"	"152959996"	"subst"	"1.68069E-5"	"01804"	"SLC6A8_003208"	"g.152959996C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1504C>T (p.(Arg502Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694541C>T"	""	"VUS"	""
"0000336035"	"0"	"50"	"X"	"152960226"	"152960226"	"subst"	"0.000297597"	"01804"	"SLC6A8_003153"	"g.152960226C>G"	""	""	""	"SLC6A8(NM_001142805.1):c.1619C>G (p.(Thr540Ser)), SLC6A8(NM_005629.3):c.1649C>G (p.T550S), SLC6A8(NM_005629.4):c.1649C>G (p.T550S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694771C>G"	""	"VUS"	""
"0000336036"	"0"	"50"	"X"	"152960255"	"152960255"	"subst"	"0.00163009"	"01804"	"SLC6A8_003126"	"g.152960255A>G"	""	""	""	"SLC6A8(NM_001142805.1):c.1648A>G (p.(Met550Val)), SLC6A8(NM_005629.4):c.1678A>G (p.M560V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694800A>G"	""	"VUS"	""
"0000337264"	"0"	"10"	"X"	"152954025"	"152954025"	"subst"	"0.99987"	"02327"	"SLC6A8_003188"	"g.152954025A>G"	""	""	""	"SLC6A8(NM_005629.4):c.-5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153688570A>G"	""	"benign"	""
"0000341468"	"0"	"50"	"X"	"152959865"	"152959865"	"subst"	"0"	"02327"	"SLC6A8_003204"	"g.152959865G>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1429G>T (p.(Ala477Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694410G>T"	""	"VUS"	""
"0000347156"	"0"	"50"	"X"	"152959452"	"152959452"	"subst"	"0"	"02327"	"SLC6A8_003224"	"g.152959452C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153693997C>A"	""	"VUS"	""
"0000347192"	"0"	"50"	"X"	"152959856"	"152959856"	"subst"	"0"	"02327"	"SLC6A8_003225"	"g.152959856C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694401C>T"	""	"VUS"	""
"0000348429"	"0"	"70"	"X"	"152959387"	"152959387"	"subst"	"0"	"02327"	"SLC6A8_003079"	"g.152959387C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153693932C>T"	""	"likely pathogenic"	""
"0000349827"	"0"	"50"	"X"	"152960244"	"152960244"	"subst"	"0"	"02327"	"SLC6A8_003226"	"g.152960244G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153694789G>C"	""	"VUS"	""
"0000350730"	"0"	"90"	"X"	"152957429"	"152957429"	"subst"	"0"	"02327"	"SLC6A8_003220"	"g.152957429G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153691974G>A"	""	"pathogenic"	""
"0000369173"	"21"	"90"	"X"	"152958811"	"152958813"	"del"	"0"	"00006"	"SLC6A8_003051"	"g.152958811_152958813del"	""	"{PMID:Schuurs-Hoeijmakers 2013:24123876}"	""	"1005_1007delCAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic"	""
"0000407945"	"0"	"90"	"X"	"152958811"	"152958813"	"del"	"0"	"00006"	"SLC6A8_003228"	"g.152958811_152958813del"	""	"{PMID:de Ligt 2012:23033978}"	""	"NM_005629.3:c.1005_1007del (Asn336del)"	""	"De novo"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic"	""
"0000408049"	"21"	"90"	"X"	"152957010"	"152957011"	"del"	"0"	"00006"	"SLC6A8_003227"	"g.152957010_152957011del"	""	"{PMID:Hu 2016:25644381}"	""	"SLC6A8 splice donor"	""	"Germline"	"yes"	""	"0"	""	""	"g.153691555_153691556del"	""	"pathogenic"	""
"0000408050"	"21"	"90"	"X"	"152959420"	"152959420"	"subst"	"0"	"00006"	"SLC6A8_003229"	"g.152959420T>C"	""	"{PMID:Hu 2016:25644381}"	""	"SLC6A8 L401P"	""	"Germline"	"yes"	""	"0"	""	""	"g.153693965T>C"	""	"pathogenic"	""
"0000408051"	"21"	"90"	"X"	"152959440"	"152959442"	"del"	"0"	"00006"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:Hu 2016:25644381}"	""	"SLC6A8 F408del"	""	"Germline"	"yes"	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic"	""
"0000408052"	"20"	"90"	"X"	"152959802"	"152959802"	"subst"	"0"	"00006"	"SLC6A8_003179"	"g.152959802G>A"	""	"{PMID:Hu 2016:25644381}"	""	"SLC6A8 G466R"	""	"Germline"	""	""	"0"	""	""	"g.153694347G>A"	""	"pathogenic"	""
"0000408064"	"21"	"90"	"X"	"152710806"	"153609906"	"dup"	"0"	"00006"	"MECP2_002820"	"g.152710806_153609906dup"	""	"{PMID:Hu 2016:25644381}"	""	"MECP2"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000412804"	"0"	"99"	"X"	"152958494"	"152958494"	"subst"	"0"	"01815"	"SLC6A8_003036"	"g.152958494A>G"	""	"{PMID:Betsalel 2010:20717164}"	""	""	"4 out of 4  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693039A>G"	""	"pathogenic (recessive)"	""
"0000412805"	"21"	"99"	"X"	"152958494"	"152958494"	"subst"	"0"	"01815"	"SLC6A8_003036"	"g.152958494A>G"	""	"{PMID:Betsalel 2010:20717164}"	""	""	"4 out of 4  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693039A>G"	""	"pathogenic (recessive)"	""
"0000412806"	"21"	"99"	"X"	"152958494"	"152958494"	"subst"	"0"	"01815"	"SLC6A8_003036"	"g.152958494A>G"	""	"{PMID:Betsalel 2010:20717164}"	""	""	"4 out of 4  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693039A>G"	""	"pathogenic (recessive)"	""
"0000412807"	"0"	"99"	"X"	"152958823"	"152958823"	"subst"	"0"	"01815"	"SLC6A8_003053"	"g.152958823T>C"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	"CacB1"	"1016+2C>T"	"5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693368T>C"	""	"pathogenic (recessive)"	""
"0000412808"	"21"	"99"	"X"	"152960089"	"152960089"	"subst"	"0"	"01815"	"SLC6A8_003115"	"g.152960089G>A"	""	"{PMID:Betsalel 2010:20717164}"	""	""	"5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153694634G>A"	""	"pathogenic (recessive)"	""
"0000412809"	"0"	"99"	"X"	"152960089"	"152960089"	"subst"	"0"	"01815"	"SLC6A8_003115"	"g.152960089G>A"	""	"{PMID:Betsalel 2010:20717164}"	""	""	"5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153694634G>A"	""	"pathogenic (recessive)"	""
"0000412810"	"0"	"11"	"X"	"152960876"	"152960876"	"subst"	"0"	"01815"	"SLC6A8_003137"	"g.152960876G>C"	"1/281 controls"	"{PMID:Rosenberg 2004:15154114}"	""	""	"Also detected 1) in an MR patient with normal cerebral creatine content, 2) homozygous in a female without SLC6A8 defect 3) in a male with SLC6A8 defect who is hemizogous for another pathogenic mutation 4)in 104/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153695421G>C"	""	"benign"	""
"0000412811"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412812"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412813"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412814"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412815"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412816"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412817"	"21"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003064"	"g.152959041G>C"	""	"{PMID:Hahn 2002:11898126}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693586G>C"	""	"pathogenic (recessive)"	""
"0000412818"	"21"	"99"	"X"	"152955828"	"152955828"	"subst"	"0"	"01815"	"SLC6A8_003015"	"g.152955828A>G"	""	"{PMID:Schiaffino 2005:16086185}, {PMID:Betsalel 2010:20717164}"	""	"r.263_328del"	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153690373A>G"	""	"pathogenic (recessive)"	""
"0000412819"	"0"	"99"	"X"	"152955828"	"152955828"	"subst"	"0"	"01815"	"SLC6A8_003015"	"g.152955828A>G"	""	"{PMID:Schiaffino 2005:16086185}, {PMID:Betsalel 2010:20717164}"	""	"r.263_328del"	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153690373A>G"	""	"pathogenic (recessive)"	""
"0000412820"	"21"	"99"	"X"	"152958630"	"152958630"	"subst"	"0"	"01815"	"SLC6A8_003045"	"g.152958630G>A"	""	"{PMID:Lion-Francois 2006:17101918}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693175G>A"	""	"pathogenic (recessive)"	""
"0000412821"	"0"	"99"	"X"	"152958630"	"152958630"	"subst"	"0"	"01815"	"SLC6A8_003045"	"g.152958630G>A"	""	"{PMID:Lion-Francois 2006:17101918}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153693175G>A"	""	"pathogenic (recessive)"	""
"0000412822"	"21"	"99"	"X"	"152959906"	"152959906"	"subst"	"0"	"01815"	"SLC6A8_003106"	"g.152959906G>C"	""	"{PMID15690373,Mancini 2005}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153694451G>C"	""	"pathogenic (recessive)"	""
"0000412823"	"21"	"99"	"X"	"152959906"	"152959906"	"subst"	"0"	"01815"	"SLC6A8_003106"	"g.152959906G>C"	""	"{PMID15690373,Mancini 2005}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153694451G>C"	""	"pathogenic (recessive)"	""
"0000412824"	"0"	"99"	"X"	"152959906"	"152959906"	"subst"	"0"	"01815"	"SLC6A8_003106"	"g.152959906G>C"	""	"{PMID15690373,Mancini 2005}, {PMID:Betsalel 2010:20717164}"	""	""	"cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"Germline"	""	""	"0"	""	""	"g.153694451G>C"	""	"pathogenic (recessive)"	""
"0000412825"	"0"	"99"	"X"	"152959746"	"152959769"	"del"	"0"	"01815"	"SLC6A8_003095"	"g.152959746_152959769del"	""	"{PMID:Betsalel 2010:20717164}, {PMID:Hathaway 2010:20501887}"	""	""	"cDNA analysis revealed splice error. Only 1 out of 5  splice predictors predicted the possible  loss of the splice site. De novo"	"Germline"	""	""	"0"	""	""	"g.153694291_153694314del"	""	"pathogenic (recessive)"	""
"0000412826"	"0"	"99"	"X"	"152959746"	"152959769"	"del"	"0"	"01815"	"SLC6A8_003095"	"g.152959746_152959769del"	""	"{PMID:Betsalel 2010:20717164}, {PMID:Hathaway 2010:20501887}"	""	""	"cDNA analysis revealed splice error. Only 1 out of 5  splice predictors predicted the possible  loss of the splice site. De novo"	"Germline"	""	""	"0"	""	""	"g.153694291_153694314del"	""	"pathogenic (recessive)"	""
"0000412828"	"0"	"11"	"X"	"152959078"	"152959078"	"subst"	"0.0954594"	"01815"	"SLC6A8_003066"	"g.152959078G>A"	"9/276 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	"rs2071028"	"IVS7+37G>A"	"detected in control(s); no effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153693623G>A"	""	"benign"	""
"0000412829"	"0"	"11"	"X"	"152959128"	"152959128"	"subst"	"0"	"01815"	"SLC6A8_003067"	"g.152959128A>G"	"6/276 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	"rs41302172"	"IVS7+87A>G"	"detected in control(s); no effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153693673A>G"	""	"benign"	""
"0000412830"	"0"	"11"	"X"	"152956049"	"152956049"	"subst"	"0"	"01815"	"SLC6A8_003023"	"g.152956049G>C"	"7/276 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	"rs6643763"	"IVS2+88G>C"	"detected in control(s); no effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153690594G>C"	""	"benign"	""
"0000412831"	"0"	"11"	"X"	"152954317"	"152954317"	"subst"	"0.0940589"	"01815"	"SLC6A8_003011"	"g.152954317T>C"	"6/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS1+26T>C"	"Detected in control(s). No effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153688862T>C"	""	"benign"	""
"0000412832"	"0"	"11"	"X"	"152959325"	"152959325"	"subst"	"0.00557806"	"01815"	"SLC6A8_003069"	"g.152959325G>A"	"2/276 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS7-35G>A"	"Detected in control(s). No effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153693870G>A"	""	"benign"	""
"0000412833"	"0"	"11"	"X"	"152959763"	"152959763"	"subst"	"0.000156844"	"01815"	"SLC6A8_003097"	"g.152959763G>A"	"1/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS9-36G>A"	"Detected in control(s). No effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153694308G>A"	""	"benign"	""
"0000412834"	"0"	"11"	"X"	"152960447"	"152960447"	"subst"	"0"	"01815"	"SLC6A8_003132"	"g.152960447G>C"	"1/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS12-82G>C"	"Detected in control(s). No effect predicted by 5 splice predictors, 0/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694992G>C"	""	"benign"	""
"0000412835"	"0"	"11"	"X"	"152956049"	"152956049"	"subst"	"0"	"01815"	"SLC6A8_003024"	"g.152956049G>A"	"1/281 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Detected in control(s). No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153690594G>A"	""	"benign"	""
"0000412836"	"0"	"11"	"X"	"152960526"	"152960526"	"subst"	"0.00444637"	"01815"	"SLC6A8_003131"	"g.152960526C>T"	"2/280 controls"	"{PMID:Rosenberg 2004:15154114}"	""	"IVS12-3C>T"	"Detected in control(s). No effect predicted by 5 splice predictors, 15/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153695071C>T"	""	"benign"	""
"0000412837"	"0"	"11"	"X"	"152958531"	"152958531"	"subst"	"0.00335948"	"01815"	"SLC6A8_003041"	"g.152958531C>T"	"4/617 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	"AvaII"	""	"Detected in control(s). No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693076C>T"	""	"benign"	""
"0000412838"	"0"	"11"	"X"	"152959900"	"152959900"	"subst"	"0.00214782"	"01815"	"SLC6A8_003105"	"g.152959900C>T"	"1/585 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	"RsaI"	""	"Detected in control(s). No effect predicted by 5 splice predictors, 5/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694445C>T"	""	"benign"	""
"0000412839"	"0"	"11"	"X"	"152956908"	"152956908"	"subst"	"5.60202E-5"	"01815"	"SLC6A8_003029"	"g.152956908G>A"	"1/635 controls"	"{PMID:Clark 2006:16738945}"	"Hpy;Ch4V"	""	"Detected in control(s). No effect predicted by 5 splice predictors. In one male MR with this variant a normal urinary cr/crn was detected , 0/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153691453G>A"	""	"benign"	""
"0000412840"	"0"	"11"	"X"	"152960255"	"152960255"	"subst"	"0.00163009"	"01815"	"SLC6A8_003126"	"g.152960255A>G"	"1/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"Detected in control(s). This variant  is a non-pathogenic variant since overexpression of this variant in SLC6A8 deficient fibroblasts did restore creatine uptake, {PMID17465020:Rosenberg 2007}, No effect predicted by 5 splice predictors. Detected in control, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694800A>G"	""	"benign"	""
"0000412841"	"21"	"99"	"X"	"152956792"	"152956794"	"del"	"0"	"01815"	"SLC6A8_003135"	"g.152956792_152956794del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"428_430delACT"	"DNA statuts not known"	"Germline"	""	""	"0"	""	""	"g.153691337_153691339del"	""	"pathogenic (recessive)"	""
"0000412842"	"0"	"33"	"X"	"152958498"	"152958498"	"subst"	"0.000404476"	"01815"	"SLC6A8_003039"	"g.152958498C>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"Effect (4% [1,00 > 0,96; range 0 - 1,00], 32% [0,22 > 0,15; range 0 - 1,00], 20% [3,3 > 2,67; range 0 - 13,00] reduced change) predicted by 3 out of 5 splice predictors. 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693043C>T"	""	"likely benign"	""
"0000412843"	"0"	"11"	"X"	"152960154"	"152960154"	"subst"	"5.07157E-5"	"01815"	"SLC6A8_003119"	"g.152960154C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"In one MR patient normal creatine uptake seen and normal urinary creatine/creatinine. No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694699C>T"	""	"benign"	""
"0000412844"	"0"	"11"	"X"	"152958862"	"152958866"	"del"	"0"	"01815"	"SLC6A8_003056"	"g.152958862_152958866del"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	"1016+41_45delTGCCC"	"Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693407_153693411del"	""	"benign"	""
"0000412845"	"0"	"33"	"X"	"152959511"	"152959511"	"subst"	"2.58677E-5"	"01815"	"SLC6A8_003084"	"g.152959511G>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694056G>T"	""	"likely benign"	""
"0000412846"	"0"	"33"	"X"	"152958879"	"152958879"	"subst"	"0.00293566"	"01815"	"SLC6A8_003057"	"g.152958879C>G"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 6/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693424C>G"	""	"likely benign"	""
"0000412847"	"0"	"33"	"X"	"152958678"	"152958678"	"subst"	"0.00320313"	"01815"	"SLC6A8_003046"	"g.152958678T>C"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 8/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693223T>C"	""	"likely benign"	""
"0000412848"	"0"	"33"	"X"	"152959983"	"152959983"	"subst"	"0.00140098"	"01815"	"SLC6A8_003107"	"g.152959983C>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 1out of 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694528C>T"	""	"likely benign"	""
"0000412849"	"0"	"33"	"X"	"152959981"	"152959981"	"subst"	"3.92291E-5"	"01815"	"SLC6A8_003108"	"g.152959981G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 2 out of 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694526G>A"	""	"likely benign"	""
"0000412850"	"0"	"33"	"X"	"152960206"	"152960206"	"subst"	"0"	"01815"	"SLC6A8_003121"	"g.152960206G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 2 out of 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694751G>A"	""	"likely benign"	""
"0000412851"	"0"	"33"	"X"	"152957566"	"152957566"	"subst"	"0.000539354"	"01815"	"SLC6A8_003035"	"g.152957566C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change) predicted by 4 out of 5 splice predictors. However, no splice errors detected by overexpression of minigene., 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153692111C>T"	""	"likely benign"	""
"0000412852"	"0"	"33"	"X"	"152956859"	"152956859"	"subst"	"2.80366E-5"	"01815"	"SLC6A8_003027"	"g.152956859C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153691404C>T"	""	"likely benign"	""
"0000412853"	"0"	"33"	"X"	"152957017"	"152957017"	"subst"	"2.84227E-5"	"01815"	"SLC6A8_003032"	"g.152957017G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153691562G>A"	""	"likely benign"	""
"0000412854"	"0"	"99"	"X"	"152958959"	"152958961"	"del"	"0"	"01815"	"SLC6A8_003059"	"g.152958959_152958961del"	""	"{PMID:Betsalel 2008:18350323}"	""	"1059_1061delCTT"	"mosaic for variant"	"Somatic"	""	""	"0"	""	""	"g.153693504_153693506del"	""	"pathogenic (recessive)"	""
"0000412855"	"0"	"99"	"X"	"152959823"	"152959826"	"del"	"0"	"01815"	"SLC6A8_003099"	"g.152959823_152959826del"	""	"{PMID:Lion-Francois 2006:17101918}"	""	"1417_1420delTTTG"	"mosaic for variant"	"Somatic"	""	""	"0"	""	""	"g.153694368_153694371del"	""	"pathogenic (recessive)"	""
"0000412856"	"0"	"99"	"X"	"152959702"	"152959705"	"del"	"0"	"01815"	"SLC6A8_003092"	"g.152959702_152959705del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1372_1375delGATC"	"mosaic?"	"Unknown"	""	""	"0"	""	""	"g.153694247_153694250del"	""	"pathogenic (recessive)"	""
"0000412859"	"0"	"99"	"X"	"152958504"	"152958504"	"subst"	"0"	"01815"	"SLC6A8_003040"	"g.152958504C>G"	""	"{PMID:degrauw 2002:12536364}"	""	""	"mutation appears to be mosaic, not detected in mother"	"Somatic"	""	""	"0"	""	""	"g.153693049C>G"	""	"pathogenic (recessive)"	""
"0000412860"	"0"	"33"	"X"	"152959822"	"152959822"	"subst"	"0"	"01815"	"SLC6A8_003098"	"g.152959822G>A"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors"	"Germline"	""	""	"0"	""	""	"g.153694367G>A"	""	"likely benign"	""
"0000412861"	"0"	"33"	"X"	"152959262"	"152959262"	"subst"	"0"	"01815"	"SLC6A8_003070"	"g.152959262C>A"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS7-99C>A"	"No effect predicted by 5 splice predictors , 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693807C>A"	""	"likely benign"	""
"0000412862"	"0"	"33"	"X"	"152959526"	"152959526"	"subst"	"0"	"01815"	"SLC6A8_003085"	"g.152959526C>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	""	"No effect predicted by 5 splice predictors , 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694071C>T"	""	"likely benign"	""
"0000412863"	"0"	"33"	"X"	"152956027"	"152956027"	"subst"	"0"	"01815"	"SLC6A8_003021"	"g.152956027C>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153690572C>A"	""	"likely benign"	""
"0000412864"	"0"	"33"	"X"	"152956967"	"152956967"	"subst"	"0.000145694"	"01815"	"SLC6A8_003031"	"g.152956967C>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153691512C>T"	""	"likely benign"	""
"0000412865"	"0"	"33"	"X"	"152958574"	"152958574"	"subst"	"8.50543E-5"	"01815"	"SLC6A8_003042"	"g.152958574C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693119C>T"	""	"likely benign"	""
"0000412866"	"0"	"33"	"X"	"152959260"	"152959260"	"subst"	"0"	"01815"	"SLC6A8_003071"	"g.152959260G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693805G>A"	""	"likely benign"	""
"0000412867"	"0"	"33"	"X"	"152959526"	"152959526"	"subst"	"0"	"01815"	"SLC6A8_003085"	"g.152959526C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694071C>T"	""	"likely benign"	""
"0000412868"	"0"	"33"	"X"	"152959753"	"152959753"	"subst"	"0.00109237"	"01815"	"SLC6A8_003096"	"g.152959753T>C"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694298T>C"	""	"likely benign"	""
"0000412869"	"0"	"33"	"X"	"152959734"	"152959734"	"subst"	"4.48219E-5"	"01815"	"SLC6A8_003094"	"g.152959734G>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694279G>T"	""	"likely benign"	""
"0000412870"	"0"	"33"	"X"	"152960116"	"152960116"	"subst"	"0.00140758"	"01815"	"SLC6A8_003118"	"g.152960116C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694661C>T"	""	"likely benign"	""
"0000412871"	"0"	"33"	"X"	"152960239"	"152960239"	"subst"	"0.000123789"	"01815"	"SLC6A8_003124"	"g.152960239G>A"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694784G>A"	""	"likely benign"	""
"0000412872"	"0"	"33"	"X"	"152958862"	"152958866"	"dup"	"0"	"01815"	"SLC6A8_003055"	"g.152958862_152958866dup"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	"1016+41_45dupTGCCC"	"No effect predicted by 5 splice predictors, 11/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693407_153693411dup"	""	"likely benign"	""
"0000412873"	"0"	"33"	"X"	"152959230"	"152959230"	"subst"	"0"	"01815"	"SLC6A8_003073"	"g.152959230C>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 13/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693775C>T"	""	"likely benign"	""
"0000412874"	"0"	"33"	"X"	"152956013"	"152956013"	"subst"	"0"	"01815"	"SLC6A8_003020"	"g.152956013C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153690558C>T"	""	"likely benign"	""
"0000412875"	"0"	"33"	"X"	"152959238"	"152959238"	"subst"	"0"	"01815"	"SLC6A8_003072"	"g.152959238C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693783C>T"	""	"likely benign"	""
"0000412876"	"0"	"33"	"X"	"152959341"	"152959341"	"subst"	"0.000102661"	"01815"	"SLC6A8_003068"	"g.152959341G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693886G>A"	""	"likely benign"	""
"0000412877"	"0"	"33"	"X"	"152954344"	"152954344"	"subst"	"0"	"01815"	"SLC6A8_003012"	"g.152954344G>C"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	""	"No effect predicted by 5 splice predictors, 3/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153688889G>C"	""	"likely benign"	""
"0000412878"	"0"	"33"	"X"	"152959059"	"152959059"	"subst"	"0.00600046"	"01815"	"SLC6A8_003065"	"g.152959059G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 3/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693604G>A"	""	"likely benign"	""
"0000412879"	"0"	"33"	"X"	"152956033"	"152956033"	"subst"	"0"	"01815"	"SLC6A8_003022"	"g.152956033C>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 4/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153690578C>A"	""	"likely benign"	""
"0000412880"	"0"	"33"	"X"	"152959843"	"152959843"	"subst"	"0.00131603"	"01815"	"SLC6A8_003101"	"g.152959843C>T"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors, 4/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694388C>T"	""	"likely benign"	""
"0000412881"	"0"	"33"	"X"	"152955873"	"152955873"	"subst"	"5.20312E-5"	"01815"	"SLC6A8_003017"	"g.152955873A>G"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors. , 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153690418A>G"	""	"likely benign"	""
"0000412882"	"0"	"11"	"X"	"152959380"	"152959380"	"subst"	"0.000302362"	"01815"	"SLC6A8_003077"	"g.152959380G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"No effect predicted by 5 splice predictors. Fibroblasts of the MR patient (no SLC6A8 defect) had normal creatine uptake, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693925G>A"	""	"benign"	""
"0000412883"	"0"	"31"	"X"	"152960651"	"152960651"	"subst"	"0.000190803"	"01815"	"SLC6A8_003134"	"g.152960651G>C"	"0/280 controls"	"{PMID:Newmayer 2007:18461508}"	""	""	"No effect predicted by 5 splice predictors. Normal urinary cr/crn in male patient with PDDNOS, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153695196G>C"	""	"benign"	""
"0000412885"	"0"	"11"	"X"	"152954356"	"152954356"	"subst"	"0"	"01815"	"SLC6A8_003013"	"g.152954356G>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Normal urine in one male MR patient. No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153688901G>A"	""	"benign"	""
"0000412886"	"0"	"11"	"X"	"152959980"	"152959980"	"subst"	"0.00101992"	"01815"	"SLC6A8_003109"	"g.152959980C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Normal urine in one male MR patient. No effect predicted by 5 splice predictors, 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694525C>T"	""	"benign"	""
"0000412887"	"21"	"99"	"X"	"152956983"	"152956983"	"subst"	"0"	"02594"	"SLC6A8_003182"	"g.152956983C>T"	""	"{PMID:Ardon 2016:27408820}"	""	""	"overexpression"	"Germline"	""	""	"0"	""	""	"g.153691528C>T"	""	"pathogenic (recessive)"	""
"0000412888"	"21"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412889"	"21"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412890"	"0"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412891"	"21"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412892"	"21"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412893"	"21"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412894"	"0"	"99"	"X"	"152960032"	"152960032"	"subst"	"0"	"01815"	"SLC6A8_003113"	"g.152960032C>T"	""	"{PMID:Salomons 2001:11326334}, {PMID:Rosenberg 2006:16763899}"	""	"1539C>T"	""	"Germline"	""	""	"0"	""	""	"g.153694577C>T"	""	"pathogenic (recessive)"	""
"0000412896"	"0"	"11"	"X"	"0"	"0"	"del"	"0"	"01815"	"SLC6A8_003074"	"g.?"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	"IVS7-151_152delGA"	"SLC6A8 cDNA analysis showed no errors.  No effect predicted by 5 splice predictors , 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000412897"	"0"	"11"	"X"	"152959500"	"152959500"	"subst"	"0.000350872"	"01815"	"SLC6A8_003083"	"g.152959500C>T"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS8+28C>T"	"SLC6A8 cDNA analysis showed no errors.  No effect predicted by 5 splice predictors , 2/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694045C>T"	""	"benign"	""
"0000412898"	"0"	"11"	"X"	"152958830"	"152958830"	"subst"	"0.000576595"	"01815"	"SLC6A8_003054"	"g.152958830C>T"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS6+9C>T"	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153693375C>T"	""	"benign"	""
"0000412899"	"0"	"11"	"X"	"152959550"	"152959550"	"subst"	"0"	"01815"	"SLC6A8_003086"	"g.152959550G>A"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS8-35G>A"	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694095G>A"	""	"benign"	""
"0000412900"	"0"	"11"	"X"	"152960376"	"152960376"	"subst"	"0.000173077"	"01815"	"SLC6A8_003130"	"g.152960376C>A"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	"IVS12+32C>A"	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694921C>A"	""	"benign"	""
"0000412901"	"0"	"11"	"X"	"152960109"	"152960109"	"subst"	"0.00457987"	"01815"	"SLC6A8_003116"	"g.152960109G>A"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS11-21G>A"	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 16/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694654G>A"	""	"benign"	""
"0000412902"	"0"	"11"	"X"	"152959970"	"152959970"	"subst"	"0.00508075"	"01815"	"SLC6A8_003110"	"g.152959970C>T"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS10-18C>T"	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 3/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694515C>T"	""	"benign"	""
"0000412903"	"0"	"11"	"X"	"152960359"	"152960359"	"subst"	"0.000303545"	"01815"	"SLC6A8_003128"	"g.152960359C>T"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Betsalel 2010:20717164}"	""	"IVS12+15C>T"	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 4/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694904C>T"	""	"benign"	""
"0000412904"	"0"	"11"	"X"	"152960112"	"152960133"	"dup"	"0"	"01815"	"SLC6A8_003117"	"g.152960112_152960133dup"	"0/280 controls"	"{PMID:Puusepp 2008:19165619}, {PMID:Betsalel 2010:20717164}"	""	""	"SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors. In one MR male normal and increased urinary cr/crn detected, 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153694657_153694678dup"	""	"benign"	""
"0000412905"	"21"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412906"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412907"	"0"	"57"	"X"	"152956905"	"152956905"	"subst"	"0"	"01815"	"SLC6A8_003028"	"g.152956905T>C"	"myoblasts and muscle biopsy present"	"{PMID:van de Kamp 2013:23644449}"	""	""	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"De novo"	""	""	"0"	""	""	"g.153691450T>C"	""	"VUS"	""
"0000412908"	"0"	"99"	"X"	"152957461"	"152957461"	"subst"	"0"	"01815"	"SLC6A8_003033"	"g.152957461G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"De novo"	""	""	"0"	""	""	"g.153692006G>T"	""	"pathogenic (recessive)"	""
"0000412909"	"21"	"99"	"X"	"152958504"	"152958504"	"subst"	"0"	"01815"	"SLC6A8_003040"	"g.152958504C>G"	""	"{PMID:degrauw 2002:12536364}"	""	""	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693049C>G"	""	"pathogenic (recessive)"	""
"0000412910"	"21"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412911"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412912"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412913"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412914"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412915"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412916"	"21"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412917"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412918"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412919"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412920"	"21"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412921"	"0"	"99"	"X"	"152959440"	"152959442"	"del"	"0"	"01815"	"SLC6A8_003082"	"g.152959440_152959442del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Bizzi 2002:12210795}"	""	"1222_1224delTTC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Somatic"	""	""	"0"	""	""	"g.153693985_153693987del"	""	"pathogenic (recessive)"	""
"0000412922"	"0"	"99"	"X"	"152954291"	"152954292"	"delins"	"0"	"01815"	"SLC6A8_003010"	"g.152954291_152954292delinsTT"	""	"{DOI:Wilcken 2008:10.1007/s10545-008-9975-0}, {PMID:Betsalel 2010:20717164}"	""	""	"This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. 5 out of 5  splice predictors predict the complete loss of the splice site."	"De novo"	""	""	"0"	""	""	"g.153688836_153688837delinsTT"	""	"pathogenic (recessive)"	""
"0000412923"	"0"	"99"	"X"	"152955829"	"152955829"	"subst"	"0"	"01815"	"SLC6A8_003014"	"g.152955829G>C"	""	"{PMID:Betsalel 2010:20717164}"	""	""	"This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. cDNA analysis revealed splice error. 5 out of 5  splice predictors predict the complete loss of the splice site."	"De novo"	""	""	"0"	""	""	"g.153690374G>C"	""	"pathogenic (recessive)"	""
"0000412924"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412925"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412926"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412927"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412928"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412929"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412930"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"De novo"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412931"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412932"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412933"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412934"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412935"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412936"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412937"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412938"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412939"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412940"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412941"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412942"	"21"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412943"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	"0/280 controls"	"{PMID:Clark 2006:16738945}"	""	"1006_1008delAAC"	"variant detected de novo in at least one patient with SLC6A8 deficiency."	"Germline"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"pathogenic (recessive)"	""
"0000412949"	"0"	"11"	"X"	"152960008"	"152960008"	"subst"	"0.000470559"	"01815"	"SLC6A8_003111"	"g.152960008G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	"proven non-pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694553G>A"	""	"benign"	""
"0000412952"	"0"	"11"	"X"	"152954040"	"152954040"	"subst"	"0"	"01815"	"SLC6A8_003003"	"g.152954040A>G"	"0/628 controls"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	"SacI"	""	"proven non-pathogenic variant; 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153688585A>G"	""	"benign"	""
"0000412953"	"0"	"11"	"X"	"152954105"	"152954105"	"subst"	"0"	"01815"	"SLC6A8_003005"	"g.152954105G>A"	"0/655 controls"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	"AvaI"	""	"proven non-pathogenic variant; 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153688650G>A"	""	"benign"	""
"0000412954"	"0"	"11"	"X"	"152960646"	"152960646"	"subst"	"0"	"01815"	"SLC6A8_003133"	"g.152960646G>A"	"0/280 controls"	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven non-pathogenic variant; 1/1900 MR patients"	"Germline"	""	""	"0"	""	""	"g.153695191G>A"	""	"benign"	""
"0000412955"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412956"	"0"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412957"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412958"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412959"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412960"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412961"	"0"	"99"	"X"	"152954288"	"152954288"	"subst"	"0"	"01815"	"SLC6A8_003009"	"g.152954288G>A"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153688833G>A"	""	"pathogenic (recessive)"	""
"0000412962"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412963"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412964"	"0"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412965"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412966"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412967"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412968"	"0"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412969"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412970"	"21"	"99"	"X"	"152958755"	"152958755"	"dup"	"0"	"01815"	"SLC6A8_003049"	"g.152958755dup"	""	"{PMID:Rosenberg 2004:15154114}"	""	"950_951insA"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693300dup"	""	"pathogenic (recessive)"	""
"0000412971"	"21"	"99"	"X"	"152958755"	"152958755"	"dup"	"0"	"01815"	"SLC6A8_003049"	"g.152958755dup"	""	"{PMID:Rosenberg 2004:15154114}"	""	"950_951insA"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693300dup"	""	"pathogenic (recessive)"	""
"0000412972"	"21"	"99"	"X"	"152958816"	"152958816"	"subst"	"0"	"01815"	"SLC6A8_003052"	"g.152958816C>G"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693361C>G"	""	"pathogenic (recessive)"	""
"0000412973"	"21"	"99"	"X"	"152958816"	"152958816"	"subst"	"0"	"01815"	"SLC6A8_003052"	"g.152958816C>G"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693361C>G"	""	"pathogenic (recessive)"	""
"0000412974"	"21"	"99"	"X"	"152958816"	"152958816"	"subst"	"0"	"01815"	"SLC6A8_003052"	"g.152958816C>G"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693361C>G"	""	"pathogenic (recessive)"	""
"0000412975"	"0"	"99"	"X"	"152958940"	"152958942"	"del"	"0"	"01815"	"SLC6A8_003058"	"g.152958940_152958942del"	"0/280 controls"	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	""	"1040_1042delTCA"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693485_153693487del"	""	"pathogenic (recessive)"	""
"0000412976"	"0"	"99"	"X"	"152959389"	"152959389"	"subst"	"0"	"01815"	"SLC6A8_003080"	"g.152959389C>T"	""	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	"SacII"	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693934C>T"	""	"pathogenic (recessive)"	""
"0000412977"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412978"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412979"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412980"	"0"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412981"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412982"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412983"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412984"	"0"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412985"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412986"	"0"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412987"	"0"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412988"	"0"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412989"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412990"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412991"	"0"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412992"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412993"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:degrauw 2002:12536364}, {PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic (recessive)"	""
"0000412994"	"0"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153694783C>T"	""	"pathogenic (recessive)"	""
"0000412995"	"0"	"99"	"X"	"152959389"	"152959389"	"subst"	"0"	"01815"	"SLC6A8_003080"	"g.152959389C>T"	""	"{PMID:Clark 2006:16738945}, {PMID:Rosenberg 2007:17465020}"	"SacII"	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693934C>T"	""	"pathogenic (recessive)"	""
"0000412996"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412997"	"0"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2004:15154114}, {PMID:Rosenberg 2007:17465020}"	""	""	"proven pathogenic variant"	"Germline"	""	""	"0"	""	""	"g.153693932C>T"	""	"pathogenic (recessive)"	""
"0000412998"	"21"	"57"	"X"	"152955937"	"152955937"	"subst"	"0"	"01815"	"SLC6A8_003019"	"g.152955937T>C"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	"variant not detected in grandmother"	"Germline"	""	""	"0"	""	""	"g.153690482T>C"	""	"VUS"	""
"0000412999"	"0"	"57"	"X"	"152955937"	"152955937"	"subst"	"0"	"01815"	"SLC6A8_003019"	"g.152955937T>C"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	"variant not detected in mother, most likely de novo in this heterozygote"	"De novo"	""	""	"0"	""	""	"g.153690482T>C"	""	"VUS"	""
"0000413001"	"0"	"33"	"X"	"152960364"	"152960364"	"subst"	"0"	"01815"	"SLC6A8_003129"	"g.152960364C>T"	"0/280 controls"	"{PMID:Betsalel 2010:20717164}"	""	""	"Variant was present in unaffected father"	"Germline"	""	""	"0"	""	""	"g.153694909C>T"	""	"likely benign"	""
"0000413007"	"0"	"99"	"X"	"152955858"	"152955859"	"ins"	"0"	"01815"	"SLC6A8_003016"	"g.152955858_152955859insAGGG"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153690403_153690404insAGGG"	""	"pathogenic (recessive)"	""
"0000413008"	"0"	"99"	"X"	"152956934"	"152956935"	"del"	"0"	"01815"	"SLC6A8_003030"	"g.152956934_152956935del"	""	"{DOI:De Kort 2006:10.1007/BF03061633}"	""	"568_569delTG"	""	"Germline"	""	""	"0"	""	""	"g.153691479_153691480del"	""	"pathogenic (recessive)"	""
"0000413009"	"21"	"57"	"X"	"152955937"	"152955937"	"subst"	"0"	"01815"	"SLC6A8_003019"	"g.152955937T>C"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153690482T>C"	""	"VUS"	""
"0000413010"	"21"	"77"	"X"	"152956759"	"152956759"	"subst"	"0"	"01815"	"SLC6A8_003025"	"g.152956759G>T"	""	"{PMID:Lion-Francois 2006:17101918}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153691304G>T"	""	"likely pathogenic (recessive)"	""
"0000413011"	"0"	"77"	"X"	"152956759"	"152956759"	"subst"	"0"	"01815"	"SLC6A8_003025"	"g.152956759G>T"	""	"{PMID:Lion-Francois 2006:17101918}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153691304G>T"	""	"likely pathogenic (recessive)"	""
"0000413012"	"21"	"99"	"X"	"152956792"	"152956794"	"del"	"0"	"01815"	"SLC6A8_003135"	"g.152956792_152956794del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"428_430delACT"	""	"Germline"	""	""	"0"	""	""	"g.153691337_153691339del"	""	"pathogenic (recessive)"	""
"0000413013"	"0"	"99"	"X"	"152956792"	"152956794"	"del"	"0"	"01815"	"SLC6A8_003135"	"g.152956792_152956794del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"428_430delACT"	""	"Germline"	""	""	"0"	""	""	"g.153691337_153691339del"	""	"pathogenic (recessive)"	""
"0000413014"	"0"	"57"	"X"	"152957514"	"152957514"	"subst"	"0"	"01815"	"SLC6A8_003034"	"g.152957514G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153692059G>T"	""	"VUS"	""
"0000413015"	"21"	"99"	"X"	"152958596"	"152958597"	"del"	"0"	"01815"	"SLC6A8_003043"	"g.152958596_152958597del"	""	"{PMID:Poo-Arguelles 2006:16601898}"	""	"878_879delTC"	""	"Germline"	""	""	"0"	""	""	"g.153693141_153693142del"	""	"pathogenic (recessive)"	""
"0000413016"	"0"	"99"	"X"	"152958596"	"152958597"	"del"	"0"	"01815"	"SLC6A8_003043"	"g.152958596_152958597del"	""	"{PMID:Poo-Arguelles 2006:16601898}"	""	"878_879delTC"	""	"Germline"	""	""	"0"	""	""	"g.153693141_153693142del"	""	"pathogenic (recessive)"	""
"0000413017"	"21"	"99"	"X"	"152958602"	"152958603"	"del"	"0"	"01815"	"SLC6A8_003044"	"g.152958602_152958603del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"884_885delCT"	""	"Germline"	""	""	"0"	""	""	"g.153693147_153693148del"	""	"pathogenic (recessive)"	""
"0000413018"	"0"	"99"	"X"	"152958602"	"152958603"	"del"	"0"	"01815"	"SLC6A8_003044"	"g.152958602_152958603del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"884_885delCT"	""	"Germline"	""	""	"0"	""	""	"g.153693147_153693148del"	""	"pathogenic (recessive)"	""
"0000413019"	"0"	"99"	"X"	"152958747"	"152958749"	"del"	"0"	"01815"	"SLC6A8_003048"	"g.152958747_152958749del"	""	"{PMID:Fons 2009:19706062}"	""	"942_944delCTT"	""	"Germline"	""	""	"0"	""	""	"g.153693292_153693294del"	""	"pathogenic (recessive)"	""
"0000413020"	"0"	"99"	"X"	"152958747"	"152958749"	"del"	"0"	"01815"	"SLC6A8_003048"	"g.152958747_152958749del"	""	"{PMID:Fons 2009:19706062}"	""	"942_944delCTT"	""	"Germline"	""	""	"0"	""	""	"g.153693292_153693294del"	""	"pathogenic (recessive)"	""
"0000413021"	"0"	"99"	"X"	"152958779"	"152958780"	"del"	"0"	"01815"	"SLC6A8_003050"	"g.152958779_152958780del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"974_975delCA"	""	"Germline"	""	""	"0"	""	""	"g.153693324_153693325del"	""	"pathogenic (recessive)"	""
"0000413022"	"21"	"99"	"X"	"152958959"	"152958961"	"del"	"0"	"01815"	"SLC6A8_003059"	"g.152958959_152958961del"	""	"{PMID:Betsalel 2008:18350323}"	""	"1059_1061delCTT"	""	"Germline"	""	""	"0"	""	""	"g.153693504_153693506del"	""	"pathogenic (recessive)"	""
"0000413023"	"21"	"99"	"X"	"152958959"	"152958961"	"del"	"0"	"01815"	"SLC6A8_003059"	"g.152958959_152958961del"	""	"{PMID:Betsalel 2008:18350323}"	""	"1059_1061delCTT"	""	"Germline"	""	""	"0"	""	""	"g.153693504_153693506del"	""	"pathogenic (recessive)"	""
"0000413024"	"21"	"99"	"X"	"152958722"	"152958722"	"subst"	"0"	"01815"	"SLC6A8_003047"	"g.152958722G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693267G>A"	""	"pathogenic (recessive)"	""
"0000413025"	"21"	"99"	"X"	"152958722"	"152958722"	"subst"	"0"	"01815"	"SLC6A8_003047"	"g.152958722G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693267G>A"	""	"pathogenic (recessive)"	""
"0000413026"	"0"	"99"	"X"	"152958722"	"152958722"	"subst"	"0"	"01815"	"SLC6A8_003047"	"g.152958722G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693267G>A"	""	"pathogenic (recessive)"	""
"0000413027"	"21"	"99"	"X"	"152958990"	"152958990"	"subst"	"0"	"01815"	"SLC6A8_003062"	"g.152958990G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693535G>T"	""	"pathogenic (recessive)"	""
"0000413028"	"0"	"99"	"X"	"152958990"	"152958990"	"subst"	"0"	"01815"	"SLC6A8_003062"	"g.152958990G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693535G>T"	""	"pathogenic (recessive)"	""
"0000413029"	"21"	"99"	"X"	"152958990"	"152958990"	"subst"	"0"	"01815"	"SLC6A8_003062"	"g.152958990G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693535G>T"	""	"pathogenic (recessive)"	""
"0000413030"	"0"	"77"	"X"	"152959363"	"152959363"	"subst"	"0"	"01815"	"SLC6A8_003076"	"g.152959363C>T"	""	"{PMID:Mercimek-Mahmutoglu 2009:19188083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693908C>T"	""	"likely pathogenic (recessive)"	""
"0000413031"	"0"	"77"	"X"	"152959363"	"152959363"	"subst"	"0"	"01815"	"SLC6A8_003076"	"g.152959363C>T"	""	"{PMID:Mercimek-Mahmutoglu 2009:19188083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693908C>T"	""	"likely pathogenic (recessive)"	""
"0000413032"	"21"	"99"	"X"	"152959424"	"152959424"	"subst"	"0"	"01815"	"SLC6A8_003081"	"g.152959424G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693969G>A"	""	"pathogenic (recessive)"	""
"0000413033"	"21"	"99"	"X"	"152959424"	"152959424"	"subst"	"0"	"01815"	"SLC6A8_003081"	"g.152959424G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693969G>A"	""	"pathogenic (recessive)"	""
"0000413034"	"21"	"99"	"X"	"152959424"	"152959424"	"subst"	"0"	"01815"	"SLC6A8_003081"	"g.152959424G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693969G>A"	""	"pathogenic (recessive)"	""
"0000413035"	"21"	"99"	"X"	"152959424"	"152959424"	"subst"	"0"	"01815"	"SLC6A8_003081"	"g.152959424G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693969G>A"	""	"pathogenic (recessive)"	""
"0000413036"	"21"	"99"	"X"	"152959424"	"152959424"	"subst"	"0"	"01815"	"SLC6A8_003081"	"g.152959424G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693969G>A"	""	"pathogenic (recessive)"	""
"0000413037"	"0"	"99"	"X"	"152959424"	"152959424"	"subst"	"0"	"01815"	"SLC6A8_003081"	"g.152959424G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693969G>A"	""	"pathogenic (recessive)"	""
"0000413038"	"0"	"57"	"X"	"152959384"	"152959384"	"subst"	"0"	"01815"	"SLC6A8_003078"	"g.152959384A>G"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693929A>G"	""	"VUS"	""
"0000413039"	"21"	"99"	"X"	"152959648"	"152959648"	"dup"	"0"	"01815"	"SLC6A8_003091"	"g.152959648dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1318dupC"	""	"Germline"	""	""	"0"	""	""	"g.153694193dup"	""	"pathogenic (recessive)"	""
"0000413040"	"21"	"99"	"X"	"152959648"	"152959648"	"dup"	"0"	"01815"	"SLC6A8_003091"	"g.152959648dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1318dupC"	""	"Germline"	""	""	"0"	""	""	"g.153694193dup"	""	"pathogenic (recessive)"	""
"0000413041"	"0"	"99"	"X"	"152959648"	"152959648"	"dup"	"0"	"01815"	"SLC6A8_003091"	"g.152959648dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1318dupC"	""	"Germline"	""	""	"0"	""	""	"g.153694193dup"	""	"pathogenic (recessive)"	""
"0000413042"	"21"	"99"	"X"	"152959648"	"152959648"	"dup"	"0"	"01815"	"SLC6A8_003091"	"g.152959648dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1318dupC"	""	"Germline"	""	""	"0"	""	""	"g.153694193dup"	""	"pathogenic (recessive)"	""
"0000413043"	"21"	"99"	"X"	"152959648"	"152959648"	"dup"	"0"	"01815"	"SLC6A8_003091"	"g.152959648dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1318dupC"	""	"Germline"	""	""	"0"	""	""	"g.153694193dup"	""	"pathogenic (recessive)"	""
"0000413044"	"21"	"99"	"X"	"152959648"	"152959648"	"dup"	"0"	"01815"	"SLC6A8_003091"	"g.152959648dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1318dupC"	""	"Germline"	""	""	"0"	""	""	"g.153694193dup"	""	"pathogenic (recessive)"	""
"0000413045"	"21"	"99"	"X"	"152959702"	"152959705"	"del"	"0"	"01815"	"SLC6A8_003092"	"g.152959702_152959705del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1372_1375delGATC"	""	"Germline"	""	""	"0"	""	""	"g.153694247_153694250del"	""	"pathogenic (recessive)"	""
"0000413046"	"21"	"57"	"X"	"152959591"	"152959591"	"subst"	"0"	"01815"	"SLC6A8_003088"	"g.152959591G>C"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694136G>C"	""	"VUS"	""
"0000413047"	"21"	"57"	"X"	"152959591"	"152959591"	"subst"	"0"	"01815"	"SLC6A8_003088"	"g.152959591G>C"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694136G>C"	""	"VUS"	""
"0000413048"	"0"	"57"	"X"	"152959591"	"152959591"	"subst"	"0"	"01815"	"SLC6A8_003088"	"g.152959591G>C"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694136G>C"	""	"VUS"	""
"0000413049"	"21"	"77"	"X"	"152959601"	"152959601"	"subst"	"0"	"01815"	"SLC6A8_003089"	"g.152959601G>A"	""	"{PMID:Puusepp 2008:19165619}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694146G>A"	""	"likely pathogenic (recessive)"	""
"0000413050"	"21"	"77"	"X"	"152959601"	"152959601"	"subst"	"0"	"01815"	"SLC6A8_003089"	"g.152959601G>A"	""	"{PMID:Puusepp 2008:19165619}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694146G>A"	""	"likely pathogenic (recessive)"	""
"0000413051"	"21"	"77"	"X"	"152959601"	"152959601"	"subst"	"0"	"01815"	"SLC6A8_003089"	"g.152959601G>A"	""	"{PMID:Puusepp 2008:19165619}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694146G>A"	""	"likely pathogenic (recessive)"	""
"0000413052"	"0"	"77"	"X"	"152959601"	"152959601"	"subst"	"0"	"01815"	"SLC6A8_003089"	"g.152959601G>A"	""	"{PMID:Puusepp 2008:19165619}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694146G>A"	""	"likely pathogenic (recessive)"	""
"0000413053"	"21"	"57"	"X"	"152959711"	"152959711"	"subst"	"0"	"01815"	"SLC6A8_003093"	"g.152959711A>G"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694256A>G"	""	"VUS"	""
"0000413054"	"0"	"57"	"X"	"152959711"	"152959711"	"subst"	"0"	"01815"	"SLC6A8_003093"	"g.152959711A>G"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694256A>G"	""	"VUS"	""
"0000413055"	"21"	"99"	"X"	"152959629"	"152959639"	"del"	"0"	"01815"	"SLC6A8_003090"	"g.152959629_152959639del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1299_1309delCCCGGCCTCCT"	""	"Germline"	""	""	"0"	""	""	"g.153694174_153694184del"	""	"pathogenic (recessive)"	""
"0000413056"	"21"	"99"	"X"	"152959629"	"152959639"	"del"	"0"	"01815"	"SLC6A8_003090"	"g.152959629_152959639del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1299_1309delCCCGGCCTCCT"	""	"Germline"	""	""	"0"	""	""	"g.153694174_153694184del"	""	"pathogenic (recessive)"	""
"0000413057"	"21"	"99"	"X"	"152959629"	"152959639"	"del"	"0"	"01815"	"SLC6A8_003090"	"g.152959629_152959639del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1299_1309delCCCGGCCTCCT"	""	"Germline"	""	""	"0"	""	""	"g.153694174_153694184del"	""	"pathogenic (recessive)"	""
"0000413058"	"0"	"99"	"X"	"152959629"	"152959639"	"del"	"0"	"01815"	"SLC6A8_003090"	"g.152959629_152959639del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1299_1309delCCCGGCCTCCT"	""	"Germline"	""	""	"0"	""	""	"g.153694174_153694184del"	""	"pathogenic (recessive)"	""
"0000413059"	"21"	"99"	"X"	"152959838"	"152959838"	"dup"	"0"	"01815"	"SLC6A8_003100"	"g.152959838dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1432dupG"	""	"Germline"	""	""	"0"	""	""	"g.153694383dup"	""	"pathogenic (recessive)"	""
"0000413060"	"21"	"77"	"X"	"152959879"	"152959879"	"subst"	"0"	"01815"	"SLC6A8_003104"	"g.152959879C>G"	""	"{PMID:Lion-Francois 2006:17101918}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694424C>G"	""	"likely pathogenic (recessive)"	""
"0000413061"	"21"	"77"	"X"	"152959879"	"152959879"	"subst"	"0"	"01815"	"SLC6A8_003104"	"g.152959879C>G"	""	"{PMID:Lion-Francois 2006:17101918}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694424C>G"	""	"likely pathogenic (recessive)"	""
"0000413062"	"0"	"77"	"X"	"152959878"	"152959878"	"subst"	"0"	"01815"	"SLC6A8_003103"	"g.152959878G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.153694423G>A"	""	"likely pathogenic (recessive)"	""
"0000413063"	"21"	"99"	"X"	"152959823"	"152959826"	"del"	"0"	"01815"	"SLC6A8_003099"	"g.152959823_152959826del"	""	"{PMID:Lion-Francois 2006:17101918}"	""	"1417_1420delTTTG"	""	"Germline"	""	""	"0"	""	""	"g.153694368_153694371del"	""	"pathogenic (recessive)"	""
"0000413064"	"0"	"99"	"X"	"152960011"	"152960035"	"del"	"0"	"01815"	"SLC6A8_003112"	"g.152960011_152960035del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1519_1543delATTGCCTGTATGATCGGGTACCGAC"	""	"Germline"	""	""	"0"	""	""	"g.153694556_153694580del"	""	"pathogenic (recessive)"	""
"0000413065"	"0"	"99"	"X"	"152960011"	"152960035"	"del"	"0"	"01815"	"SLC6A8_003112"	"g.152960011_152960035del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1519_1543delATTGCCTGTATGATCGGGTACCGAC"	""	"Germline"	""	""	"0"	""	""	"g.153694556_153694580del"	""	"pathogenic (recessive)"	""
"0000413066"	"0"	"99"	"X"	"152960046"	"152960046"	"subst"	"0"	"01815"	"SLC6A8_003114"	"g.152960046G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694591G>A"	""	"pathogenic (recessive)"	""
"0000413067"	"0"	"99"	"X"	"152960184"	"152960189"	"del"	"0"	"01815"	"SLC6A8_003120"	"g.152960184_152960189del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1607_1612del TCTTCA"	""	"Germline"	""	""	"0"	""	""	"g.153694729_153694734del"	""	"pathogenic (recessive)"	""
"0000413068"	"21"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413069"	"21"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413070"	"0"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413071"	"21"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413072"	"0"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413073"	"21"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413074"	"0"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413075"	"21"	"77"	"X"	"152960208"	"152960208"	"subst"	"0"	"01815"	"SLC6A8_003122"	"g.152960208C>T"	""	"{PMID:Mancini 2005:15690373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694753C>T"	""	"likely pathogenic (recessive)"	""
"0000413076"	"21"	"99"	"X"	"152960244"	"152960244"	"subst"	"0"	"01815"	"SLC6A8_003125"	"g.152960244G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694789G>A"	""	"pathogenic (recessive)"	""
"0000413077"	"0"	"99"	"X"	"152960244"	"152960244"	"subst"	"0"	"01815"	"SLC6A8_003125"	"g.152960244G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694789G>A"	""	"pathogenic (recessive)"	""
"0000413078"	"0"	"99"	"X"	"152960267"	"152960280"	"del"	"0"	"01815"	"SLC6A8_003127"	"g.152960267_152960280del"	""	"{PMID:Anselm 2008:18443316}"	""	"p.Phe564Hisfs"	""	"Germline"	""	""	"0"	""	""	"g.153694812_153694825del"	""	"pathogenic (recessive)"	""
"0000413080"	"0"	"99"	"X"	"152954029"	"152960670"	"del"	"0"	"01815"	"SLC6A8_003139"	"g.152954029_152960670del"	""	"{PMID:Anselm 2006:16601897}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153688574_153695215del"	""	"pathogenic (recessive)"	""
"0000413081"	"0"	"99"	"X"	"152959359"	"152960670"	"del"	"0"	"01815"	"SLC6A8_003075"	"g.152959359_152960670del"	""	"{PMID:Anselm 2006:16601897}"	""	""	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000413082"	"0"	"99"	"X"	"152956826"	"152956826"	"subst"	"0"	"01815"	"SLC6A8_003026"	"g.152956826G>A"	""	"{PMID:Fons 2009:19706062}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153691371G>A"	""	"pathogenic (recessive)"	""
"0000413083"	"21"	"99"	"X"	"152958979"	"152958981"	"del"	"0"	"01815"	"SLC6A8_003061"	"g.152958979_152958981del"	""	"{PMID:Sempere 2009:19319661}"	""	"1079_1081delTCT"	""	"Germline"	""	""	"0"	""	""	"g.153693524_153693526del"	""	"pathogenic (recessive)"	""
"0000413084"	"21"	"99"	"X"	"152958979"	"152958981"	"del"	"0"	"01815"	"SLC6A8_003061"	"g.152958979_152958981del"	""	"{PMID:Sempere 2009:19319661}"	""	"1079_1081delTCT"	""	"Germline"	""	""	"0"	""	""	"g.153693524_153693526del"	""	"pathogenic (recessive)"	""
"0000413085"	"0"	"99"	"X"	"152958979"	"152958981"	"del"	"0"	"01815"	"SLC6A8_003061"	"g.152958979_152958981del"	""	"{PMID:Sempere 2009:19319661}"	""	"1079_1081delTCT"	""	"Germline"	""	""	"0"	""	""	"g.153693524_153693526del"	""	"pathogenic (recessive)"	""
"0000413086"	"21"	"99"	"X"	"152958979"	"152958981"	"del"	"0"	"01815"	"SLC6A8_003061"	"g.152958979_152958981del"	""	"{PMID:Sempere 2009:19319661}"	""	"1079_1081delTCT"	""	"Germline"	""	""	"0"	""	""	"g.153693524_153693526del"	""	"pathogenic (recessive)"	""
"0000413087"	"21"	"99"	"X"	"152954248"	"152954248"	"del"	"0"	"01815"	"SLC6A8_003008"	"g.152954248del"	""	"{PMID:Dezortova 2008:18726626}"	""	"219delC"	""	"Germline"	""	""	"0"	""	""	"g.153688793del"	""	"pathogenic (recessive)"	""
"0000413088"	"21"	"99"	"X"	"152954248"	"152954248"	"del"	"0"	"01815"	"SLC6A8_003008"	"g.152954248del"	""	"{PMID:Dezortova 2008:18726626}"	""	"219delC"	""	"Germline"	""	""	"0"	""	""	"g.153688793del"	""	"pathogenic (recessive)"	""
"0000413089"	"21"	"99"	"X"	"152956831"	"152956833"	"del"	"0"	"01815"	"SLC6A8_003140"	"g.152956831_152956833del"	""	""	""	"467_469delTCT"	""	"Germline"	""	""	"0"	""	""	"g.153691376_153691378del"	""	"pathogenic (recessive)"	""
"0000413090"	"0"	"99"	"X"	"152956831"	"152956833"	"del"	"0"	"01815"	"SLC6A8_003140"	"g.152956831_152956833del"	""	""	""	"467_469delTCT"	""	"Somatic"	""	""	"0"	""	""	"g.153691376_153691378del"	""	"pathogenic (recessive)"	""
"0000413091"	"0"	"99"	"X"	"152958791"	"152958791"	"subst"	"0"	"01815"	"SLC6A8_003141"	"g.152958791G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693336G>T"	""	"pathogenic (recessive)"	""
"0000413092"	"21"	"99"	"X"	"152960244"	"152960244"	"subst"	"0"	"01815"	"SLC6A8_003125"	"g.152960244G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694789G>A"	""	"pathogenic (recessive)"	""
"0000413093"	"0"	"99"	"X"	"152960244"	"152960244"	"subst"	"0"	"01815"	"SLC6A8_003125"	"g.152960244G>A"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Somatic"	""	""	"0"	""	""	"g.153694789G>A"	""	"pathogenic (recessive)"	""
"0000413094"	"0"	"99"	"X"	"152956934"	"152956935"	"del"	"0"	"01815"	"SLC6A8_003030"	"g.152956934_152956935del"	""	"{DOI:De Kort 2006:10.1007/BF03061633}"	""	"568_569delTG"	""	"Germline"	""	""	"0"	""	""	"g.153691479_153691480del"	""	"pathogenic (recessive)"	""
"0000413095"	"21"	"99"	"X"	"152959005"	"152959005"	"subst"	"0"	"01815"	"SLC6A8_003063"	"g.152959005G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693550G>A"	""	"pathogenic (recessive)"	""
"0000413096"	"0"	"99"	"X"	"152959005"	"152959005"	"subst"	"0"	"01815"	"SLC6A8_003063"	"g.152959005G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693550G>A"	""	"pathogenic (recessive)"	""
"0000413099"	"0"	"99"	"X"	"152960262"	"152960262"	"subst"	"0"	"01815"	"SLC6A8_003144"	"g.152960262G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694807G>A"	""	"pathogenic (recessive)"	""
"0000413100"	"21"	"99"	"X"	"152959834"	"152959834"	"subst"	"0"	"01815"	"SLC6A8_003145"	"g.152959834C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694379C>G"	""	"pathogenic (recessive)"	""
"0000413101"	"0"	"99"	"X"	"152959834"	"152959834"	"subst"	"0"	"01815"	"SLC6A8_003145"	"g.152959834C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694379C>G"	""	"pathogenic (recessive)"	""
"0000413103"	"21"	"99"	"X"	"152959629"	"152959639"	"del"	"0"	"01815"	"SLC6A8_003090"	"g.152959629_152959639del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1299_1309delCCCGGCCTCCT"	""	"Germline"	""	""	"0"	""	""	"g.153694174_153694184del"	""	"pathogenic (recessive)"	""
"0000413104"	"0"	"99"	"X"	"152959629"	"152959639"	"del"	"0"	"01815"	"SLC6A8_003090"	"g.152959629_152959639del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1299_1309delCCCGGCCTCCT"	""	"Germline"	""	""	"0"	""	""	"g.153694174_153694184del"	""	"pathogenic (recessive)"	""
"0000413106"	"0"	"99"	"X"	"152959041"	"152959041"	"subst"	"0"	"01815"	"SLC6A8_003149"	"g.152959041G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693586G>A"	""	"pathogenic (recessive)"	""
"0000413107"	"21"	"99"	"X"	"152959862"	"152959862"	"subst"	"0"	"01815"	"SLC6A8_003150"	"g.152959862C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694407C>T"	""	"pathogenic (recessive)"	""
"0000413108"	"21"	"99"	"X"	"152959862"	"152959862"	"subst"	"0"	"01815"	"SLC6A8_003150"	"g.152959862C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694407C>T"	""	"pathogenic (recessive)"	""
"0000413109"	"21"	"99"	"X"	"152959862"	"152959862"	"subst"	"0"	"01815"	"SLC6A8_003150"	"g.152959862C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694407C>T"	""	"pathogenic (recessive)"	""
"0000413110"	"0"	"99"	"X"	"152959862"	"152959862"	"subst"	"0"	"01815"	"SLC6A8_003150"	"g.152959862C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694407C>T"	""	"pathogenic (recessive)"	""
"0000413111"	"0"	"99"	"X"	"152960011"	"152960035"	"del"	"0"	"01815"	"SLC6A8_003112"	"g.152960011_152960035del"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1519_1543delATTGCCTGTATGATCGGGTACCGAC"	""	"Germline"	""	""	"0"	""	""	"g.153694556_153694580del"	""	"pathogenic (recessive)"	""
"0000413114"	"21"	"95"	"X"	"152958748"	"152958748"	"subst"	"0"	"01815"	"SLC6A8_003151"	"g.152958748T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693293T>A"	""	"pathogenic (recessive)"	""
"0000413123"	"0"	"99"	"X"	"152959823"	"152959826"	"del"	"0"	"01815"	"SLC6A8_003099"	"g.152959823_152959826del"	""	"{PMID:Lion-Francois 2006:17101918}"	""	"1417_1420delTTTG"	""	"Germline"	""	""	"0"	""	""	"g.153694368_153694371del"	""	"pathogenic (recessive)"	""
"0000413125"	"0"	"99"	"X"	"152959836"	"152959836"	"subst"	"0"	"01815"	"SLC6A8_003159"	"g.152959836C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694381C>T"	""	"pathogenic (recessive)"	""
"0000413128"	"21"	"95"	"X"	"152958748"	"152958748"	"subst"	"0"	"01815"	"SLC6A8_003151"	"g.152958748T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693293T>A"	""	"pathogenic (recessive)"	""
"0000413138"	"0"	"99"	"X"	"152959838"	"152959838"	"dup"	"0"	"01815"	"SLC6A8_003100"	"g.152959838dup"	""	"{PMID:van de Kamp 2013:23644449}"	""	"1432dupG"	""	"Germline"	""	""	"0"	""	""	"g.153694383dup"	""	"pathogenic (recessive)"	""
"0000413140"	"21"	"99"	"X"	"152959834"	"152959834"	"subst"	"0"	"01815"	"SLC6A8_003145"	"g.152959834C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694379C>G"	""	"pathogenic (recessive)"	""
"0000413141"	"0"	"99"	"X"	"152959834"	"152959834"	"subst"	"0"	"01815"	"SLC6A8_003145"	"g.152959834C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694379C>G"	""	"pathogenic (recessive)"	""
"0000413142"	"0"	"99"	"X"	"152958967"	"152958967"	"subst"	"0"	"01815"	"SLC6A8_003060"	"g.152958967G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693512G>T"	""	"pathogenic (recessive)"	""
"0000413143"	"0"	"99"	"X"	"152959036"	"152959037"	"del"	"0"	"01815"	"SLC6A8_003168"	"g.152959036_152959037del"	""	""	""	"1136_1137delAG"	""	"Germline"	""	""	"0"	""	""	"g.153693581_153693582del"	""	"pathogenic (recessive)"	""
"0000413144"	"0"	"95"	"X"	"152954292"	"152954292"	"subst"	"0"	"01815"	"SLC6A8_003169"	"g.152954292G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153688837G>T"	""	"pathogenic (recessive)"	""
"0000413151"	"0"	"33"	"X"	"152955735"	"152955735"	"subst"	"0"	"01815"	"SLC6A8_003174"	"g.152955735G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153690280G>A"	""	"likely benign"	""
"0000413157"	"0"	"99"	"X"	"152959428"	"152959428"	"subst"	"0"	"01815"	"SLC6A8_003178"	"g.152959428G>C"	""	"{PMID 20002129:Alcaide 2010}, {PMID 21140503 :Alcaide 2010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693973G>C"	""	"pathogenic (recessive)"	""
"0000413158"	"0"	"99"	"X"	"152959802"	"152959802"	"subst"	"0"	"01815"	"SLC6A8_003179"	"g.152959802G>A"	""	"{PMID 21140503 :Alcaide 2010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153694347G>A"	""	"pathogenic (recessive)"	""
"0000413159"	"0"	"77"	"X"	"152956759"	"152956759"	"subst"	"0"	"01815"	"SLC6A8_003025"	"g.152956759G>T"	""	"{PMID:Lion-Francois 2006:17101918}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153691304G>T"	""	"likely pathogenic (recessive)"	""
"0000413160"	"0"	"57"	"X"	"152959005"	"152959005"	"subst"	"0"	"01815"	"SLC6A8_003063"	"g.152959005G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693550G>A"	""	"VUS"	""
"0000413161"	"21"	"99"	"X"	"152958967"	"152958967"	"subst"	"0"	"01815"	"SLC6A8_003060"	"g.152958967G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693512G>T"	""	"pathogenic (recessive)"	""
"0000413162"	"21"	"77"	"X"	"152956759"	"152956759"	"subst"	"0"	"01815"	"SLC6A8_003025"	"g.152956759G>T"	""	"{PMID:Lion-Francois 2006:17101918}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153691304G>T"	""	"likely pathogenic (recessive)"	""
"0000413163"	"21"	"57"	"X"	"152959005"	"152959005"	"subst"	"0"	"01815"	"SLC6A8_003063"	"g.152959005G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693550G>A"	""	"VUS"	""
"0000413164"	"21"	"99"	"X"	"152958967"	"152958967"	"subst"	"0"	"01815"	"SLC6A8_003060"	"g.152958967G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693512G>T"	""	"pathogenic (recessive)"	""
"0000413165"	"0"	"99"	"X"	"152958967"	"152958967"	"subst"	"0"	"01815"	"SLC6A8_003060"	"g.152958967G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693512G>T"	""	"pathogenic (recessive)"	""
"0000413166"	"21"	"99"	"X"	"152958967"	"152958967"	"subst"	"0"	"01815"	"SLC6A8_003060"	"g.152958967G>T"	""	"{PMID:van de Kamp 2013:23644449}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.153693512G>T"	""	"pathogenic (recessive)"	""
"0000413174"	"0"	"99"	"X"	"152958811"	"152958813"	"del"	"0"	"01815"	"SLC6A8_003051"	"g.152958811_152958813del"	""	"{PMID:Rosenberg 2007:17465020}"	""	"1006_1008delAAC"	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153693356_153693358del"	""	"NA"	""
"0000413175"	"21"	"99"	"X"	"152958816"	"152958816"	"subst"	"0"	"01815"	"SLC6A8_003052"	"g.152958816C>G"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153693361C>G"	""	"NA"	""
"0000413176"	"0"	"99"	"X"	"152958940"	"152958942"	"del"	"0"	"01815"	"SLC6A8_003058"	"g.152958940_152958942del"	""	"{PMID:Rosenberg 2007:17465020}"	""	"1040_1042delTCA"	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153693485_153693487del"	""	"NA"	""
"0000413177"	"21"	"99"	"X"	"152959387"	"152959387"	"subst"	"0"	"01815"	"SLC6A8_003079"	"g.152959387C>T"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153693932C>T"	""	"NA"	""
"0000413178"	"0"	"99"	"X"	"152959389"	"152959389"	"subst"	"0"	"01815"	"SLC6A8_003080"	"g.152959389C>T"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153693934C>T"	""	"NA"	""
"0000413179"	"0"	"11"	"X"	"152954040"	"152954040"	"subst"	"0"	"01815"	"SLC6A8_003003"	"g.152954040A>G"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts restored creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153688585A>G"	""	"NA"	""
"0000413180"	"0"	"11"	"X"	"152960008"	"152960008"	"subst"	"0.000470559"	"01815"	"SLC6A8_003111"	"g.152960008G>A"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts restored creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153694553G>A"	""	"NA"	""
"0000413182"	"21"	"99"	"X"	"152960238"	"152960238"	"subst"	"0"	"01815"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153694783C>T"	""	"NA"	""
"0000413183"	"0"	"11"	"X"	"152960646"	"152960646"	"subst"	"0"	"01815"	"SLC6A8_003133"	"g.152960646G>A"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts restored creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153695191G>A"	""	"NA"	""
"0000413184"	"0"	"99"	"X"	"152954288"	"152954288"	"subst"	"0"	"01815"	"SLC6A8_003009"	"g.152954288G>A"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153688833G>A"	""	"NA"	""
"0000413185"	"21"	"99"	"X"	"152955888"	"152955890"	"del"	"0"	"01815"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:Rosenberg 2007:17465020}"	""	"319_321delCTT"	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"NA"	""
"0000413186"	"0"	"11"	"X"	"152954105"	"152954105"	"subst"	"0"	"01815"	"SLC6A8_003005"	"g.152954105G>A"	""	"{PMID:Rosenberg 2007:17465020}"	""	""	"overexpression in SLC6A8 deficient fibroblasts restored creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153688650G>A"	""	"NA"	""
"0000413187"	"21"	"99"	"X"	"152958755"	"152958755"	"dup"	"0"	"01815"	"SLC6A8_003049"	"g.152958755dup"	""	"{PMID:Rosenberg 2007:17465020}"	""	"950_951insA"	"overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake"	"In vitro (cloned)"	""	""	"0"	""	""	"g.153693300dup"	""	"NA"	""
"0000574292"	"0"	"30"	"X"	"152954116"	"152954116"	"subst"	"0.000978003"	"02326"	"SLC6A8_003231"	"g.152954116G>A"	""	""	""	"SLC6A8(NM_005629.3):c.87G>A (p.G29=), SLC6A8(NM_005629.4):c.87G>A (p.G29=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153688661G>A"	""	"likely benign"	""
"0000574293"	"0"	"30"	"X"	"152956908"	"152956908"	"subst"	"5.60202E-5"	"01943"	"SLC6A8_003029"	"g.152956908G>A"	""	""	""	"SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153691453G>A"	""	"likely benign"	""
"0000574294"	"0"	"30"	"X"	"152958531"	"152958531"	"subst"	"0.00335948"	"02326"	"SLC6A8_003041"	"g.152958531C>T"	""	""	""	"SLC6A8(NM_005629.3):c.813C>T (p.V271=), SLC6A8(NM_005629.4):c.813C>T (p.V271=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693076C>T"	""	"likely benign"	""
"0000574295"	"0"	"50"	"X"	"152958538"	"152958538"	"subst"	"7.3099E-5"	"01943"	"SLC6A8_003232"	"g.152958538G>A"	""	""	""	"SLC6A8(NM_005629.3):c.820G>A (p.V274M), SLC6A8(NM_005629.4):c.820G>A (p.V274M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693083G>A"	""	"VUS"	""
"0000574297"	"0"	"50"	"X"	"152958830"	"152958830"	"subst"	"0.000576595"	"02327"	"SLC6A8_003054"	"g.152958830C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693375C>T"	""	"VUS"	""
"0000574298"	"0"	"50"	"X"	"152959380"	"152959380"	"subst"	"0.000302362"	"01943"	"SLC6A8_003077"	"g.152959380G>A"	""	""	""	"SLC6A8(NM_005629.3):c.1162G>A (p.A388T), SLC6A8(NM_005629.4):c.1162G>A (p.A388T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693925G>A"	""	"VUS"	""
"0000574300"	"0"	"30"	"X"	"152959380"	"152959380"	"subst"	"0.000302362"	"02326"	"SLC6A8_003077"	"g.152959380G>A"	""	""	""	"SLC6A8(NM_005629.3):c.1162G>A (p.A388T), SLC6A8(NM_005629.4):c.1162G>A (p.A388T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693925G>A"	""	"likely benign"	""
"0000574301"	"0"	"30"	"X"	"152959900"	"152959900"	"subst"	"0.00214782"	"02326"	"SLC6A8_003105"	"g.152959900C>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1464C>T (p.(=)), SLC6A8(NM_005629.3):c.1494C>T (p.Y498=), SLC6A8(NM_005629.4):c.1494C>T (p.Y498=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153694445C>T"	""	"likely benign"	""
"0000574302"	"0"	"30"	"X"	"152959980"	"152959980"	"subst"	"0.00101992"	"01804"	"SLC6A8_003109"	"g.152959980C>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1466-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153694525C>T"	""	"likely benign"	""
"0000574303"	"0"	"10"	"X"	"152959983"	"152959983"	"subst"	"0.00140098"	"01943"	"SLC6A8_003107"	"g.152959983C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1496-5C>T, SLC6A8(NM_005629.4):c.1496-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153694528C>T"	""	"benign"	""
"0000574304"	"0"	"30"	"X"	"152960008"	"152960008"	"subst"	"0.000470559"	"01943"	"SLC6A8_003111"	"g.152960008G>A"	""	""	""	"SLC6A8(NM_005629.3):c.1516G>A (p.D506N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153694553G>A"	""	"likely benign"	""
"0000574305"	"0"	"50"	"X"	"152960179"	"152960179"	"subst"	"2.80587E-5"	"01943"	"SLC6A8_003233"	"g.152960179C>G"	""	""	""	"SLC6A8(NM_005629.3):c.1602C>G (p.I534M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153694724C>G"	""	"VUS"	""
"0000574306"	"0"	"30"	"X"	"152960226"	"152960226"	"subst"	"0.000297597"	"02326"	"SLC6A8_003153"	"g.152960226C>G"	""	""	""	"SLC6A8(NM_001142805.1):c.1619C>G (p.(Thr540Ser)), SLC6A8(NM_005629.3):c.1649C>G (p.T550S), SLC6A8(NM_005629.4):c.1649C>G (p.T550S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153694771C>G"	""	"likely benign"	""
"0000574307"	"0"	"30"	"X"	"152960539"	"152960539"	"subst"	"4.40241E-5"	"01943"	"SLC6A8_003234"	"g.152960539A>G"	""	""	""	"SLC6A8(NM_005629.3):c.1778A>G (p.H593R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153695084A>G"	""	"likely benign"	""
"0000574308"	"0"	"30"	"X"	"152960592"	"152960592"	"subst"	"0"	"01943"	"SLC6A8_003235"	"g.152960592G>C"	""	""	""	"SLC6A8(NM_005629.3):c.1831G>C (p.A611P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153695137G>C"	""	"likely benign"	""
"0000574309"	"0"	"30"	"X"	"152960651"	"152960651"	"subst"	"0.000190803"	"02326"	"SLC6A8_003134"	"g.152960651G>C"	""	""	""	"SLC6A8(NM_005629.3):c.1890G>C (p.V630=), SLC6A8(NM_005629.4):c.1890G>C (p.V630=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153695196G>C"	""	"likely benign"	""
"0000574310"	"0"	"30"	"X"	"152966420"	"152966420"	"subst"	"3.52674E-5"	"01943"	"BCAP31_000013"	"g.152966420T>A"	""	""	""	"BCAP31(NM_001139457.2):c.914A>T (p.D305V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153700965T>A"	""	"likely benign"	""
"0000619160"	"0"	"30"	"X"	"152956874"	"152956874"	"subst"	"0"	"01943"	"SLC6A8_003236"	"g.152956874C>T"	""	""	""	"SLC6A8(NM_005629.3):c.510C>T (p.A170=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153691419C>T"	""	"likely benign"	""
"0000619161"	"0"	"90"	"X"	"152958811"	"152958813"	"del"	"0"	"02325"	"SLC6A8_003051"	"g.152958811_152958813del"	""	""	""	"SLC6A8(NM_005629.4):c.1006_1008delAAC (p.N336del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693356_153693358del"	""	"pathogenic"	""
"0000619162"	"0"	"30"	"X"	"152958921"	"152958921"	"subst"	"1.11915E-5"	"02327"	"SLC6A8_003238"	"g.152958921G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693466G>A"	""	"likely benign"	""
"0000619163"	"0"	"90"	"X"	"152959363"	"152959363"	"subst"	"0"	"02327"	"SLC6A8_003076"	"g.152959363C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693908C>T"	""	"pathogenic"	""
"0000619164"	"0"	"30"	"X"	"152959380"	"152959380"	"subst"	"0.000302362"	"02325"	"SLC6A8_003077"	"g.152959380G>A"	""	""	""	"SLC6A8(NM_005629.3):c.1162G>A (p.A388T), SLC6A8(NM_005629.4):c.1162G>A (p.A388T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693925G>A"	""	"likely benign"	""
"0000619165"	"0"	"50"	"X"	"152960614"	"152960614"	"subst"	"0"	"01943"	"SLC6A8_003240"	"g.152960614C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1853C>T (p.T618I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153695159C>T"	""	"VUS"	""
"0000619166"	"0"	"50"	"X"	"152966406"	"152966406"	"subst"	"1.75422E-5"	"01943"	"BCAP31_000028"	"g.152966406T>C"	""	""	""	"BCAP31(NM_001139457.2):c.928A>G (p.K310E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153700951T>C"	""	"VUS"	""
"0000619167"	"0"	"30"	"X"	"152966415"	"152966415"	"subst"	"0"	"01943"	"BCAP31_000029"	"g.152966415G>A"	""	""	""	"BCAP31(NM_001139457.2):c.919C>T (p.P307S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153700960G>A"	""	"likely benign"	""
"0000624483"	"0"	"30"	"X"	"152956981"	"152956981"	"subst"	"1.68156E-5"	"01943"	"SLC6A8_003237"	"g.152956981G>A"	""	""	""	"SLC6A8(NM_005629.3):c.617G>A (p.R206H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153691526G>A"	""	"likely benign"	""
"0000624484"	"0"	"90"	"X"	"152959440"	"152959442"	"del"	"0"	"02325"	"SLC6A8_003082"	"g.152959440_152959442del"	""	""	""	"SLC6A8(NM_005629.4):c.1222_1224delTTC (p.F408del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693985_153693987del"	""	"pathogenic"	""
"0000659146"	"0"	"30"	"X"	"152954116"	"152954116"	"subst"	"0.000978003"	"01943"	"SLC6A8_003231"	"g.152954116G>A"	""	""	""	"SLC6A8(NM_005629.3):c.87G>A (p.G29=), SLC6A8(NM_005629.4):c.87G>A (p.G29=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153688661G>A"	""	"likely benign"	""
"0000659147"	"0"	"30"	"X"	"152958830"	"152958830"	"subst"	"0.000576595"	"01943"	"SLC6A8_003054"	"g.152958830C>T"	""	""	""	"SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693375C>T"	""	"likely benign"	""
"0000659148"	"0"	"90"	"X"	"152959389"	"152959389"	"subst"	"0"	"02327"	"SLC6A8_003080"	"g.152959389C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.153693934C>T"	""	"pathogenic"	""
"0000665269"	"0"	"77"	"X"	"152959900"	"152959900"	"subst"	"0"	"01815"	"SLC6A8_003241"	"g.152959900C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.153694445C>G"	""	"pathogenic (recessive)"	""
"0000667192"	"3"	"90"	"X"	"152959590"	"152959611"	"del"	"0"	"01807"	"SLC6A8_003242"	"g.152959590_152959611del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.153694135_153694156del"	""	"pathogenic"	""
"0000682204"	"0"	"90"	"X"	"152956934"	"152956935"	"del"	"0"	"02325"	"SLC6A8_003030"	"g.152956934_152956935del"	""	""	""	"SLC6A8(NM_005629.4):c.570_571delTG (p.A191Qfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000682205"	"0"	"30"	"X"	"152958780"	"152958780"	"subst"	"0.000134305"	"01943"	"SLC6A8_003243"	"g.152958780A>C"	""	""	""	"SLC6A8(NM_005629.3):c.975A>C (p.T325=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682206"	"0"	"30"	"X"	"152958938"	"152958938"	"subst"	"5.03587E-5"	"02326"	"SLC6A8_003202"	"g.152958938C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1038C>T (p.L346=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682207"	"0"	"30"	"X"	"152960004"	"152960004"	"subst"	"5.60234E-6"	"01804"	"SLC6A8_003244"	"g.152960004G>T"	""	""	""	"SLC6A8(NM_001142805.1):c.1482G>T (p.(Met494Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693424"	"0"	"30"	"X"	"152958549"	"152958549"	"subst"	"2.81406E-5"	"01943"	"SLC6A8_003245"	"g.152958549G>A"	""	""	""	"SLC6A8(NM_005629.3):c.831G>A (p.V277=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693425"	"0"	"30"	"X"	"152959027"	"152959027"	"subst"	"5.604E-6"	"01943"	"SLC6A8_003246"	"g.152959027A>G"	""	""	""	"SLC6A8(NM_005629.3):c.1127A>G (p.K376R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698181"	"0"	"90"	"X"	"152955888"	"152955890"	"del"	"0"	"00006"	"SLC6A8_003018"	"g.152955888_152955890del"	""	"{PMID:Zhu 2015:25590979}"	""	"316_318del"	""	"De novo"	""	""	"0"	""	""	"g.153690433_153690435del"	""	"pathogenic"	""
"0000698232"	"21"	"90"	"X"	"152961800"	"152967144"	"del"	"0"	"00006"	"BCAP31_000041"	"g.152961800_152967144del"	""	"{PMID:Cacciagli 2013:24011989}"	""	"del ex8"	"SLC6A8 transcript level 0.46"	"Germline"	""	""	"0"	""	""	"g.153696345_153701689del"	""	"pathogenic (recessive)"	""
"0000698237"	"20"	"90"	"X"	"152958460"	"152977354"	"del"	"0"	"00006"	"BCAP31_000042"	"g.152958460_152977354del"	""	"{PMID:Osaka 2012:22472424}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.153693005_153711899del"	""	"pathogenic (recessive)"	""
"0000728554"	"0"	"30"	"X"	"152954118"	"152954118"	"subst"	"0"	"01943"	"SLC6A8_003247"	"g.152954118C>T"	""	""	""	"SLC6A8(NM_005629.3):c.89C>T (p.A30V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728555"	"0"	"30"	"X"	"152955873"	"152955873"	"subst"	"5.20312E-5"	"01943"	"SLC6A8_003017"	"g.152955873A>G"	""	""	""	"SLC6A8(NM_005629.3):c.306A>G (p.G102=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728556"	"0"	"50"	"X"	"152956784"	"152956784"	"subst"	"0"	"01943"	"SLC6A8_003248"	"g.152956784C>T"	""	""	""	"SLC6A8(NM_005629.3):c.420C>T (p.I140=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728557"	"0"	"30"	"X"	"152957566"	"152957566"	"subst"	"0.000539354"	"01943"	"SLC6A8_003035"	"g.152957566C>T"	""	""	""	"SLC6A8(NM_005629.3):c.777+4C>T, SLC6A8(NM_005629.4):c.777+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728558"	"0"	"50"	"X"	"152958538"	"152958538"	"subst"	"7.3099E-5"	"02325"	"SLC6A8_003232"	"g.152958538G>A"	""	""	""	"SLC6A8(NM_005629.3):c.820G>A (p.V274M), SLC6A8(NM_005629.4):c.820G>A (p.V274M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728559"	"0"	"90"	"X"	"152958811"	"152958813"	"del"	"0"	"02329"	"SLC6A8_003051"	"g.152958811_152958813del"	""	""	""	"SLC6A8(NM_005629.4):c.1006_1008delAAC (p.N336del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000728560"	"0"	"50"	"X"	"152960269"	"152960269"	"subst"	"0.000107932"	"02329"	"SLC6A8_003214"	"g.152960269C>G"	""	""	""	"SLC6A8(NM_001142805.2):c.1662C>G (p.F554L), SLC6A8(NM_005629.3):c.1692C>G (p.F564L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810046"	"0"	"30"	"X"	"152954121"	"152954121"	"subst"	"3.32674E-5"	"01943"	"SLC6A8_003250"	"g.152954121C>T"	""	""	""	"SLC6A8(NM_005629.3):c.92C>T (p.P31L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810047"	"0"	"30"	"X"	"152955933"	"152955933"	"subst"	"0"	"01943"	"SLC6A8_003251"	"g.152955933T>C"	""	""	""	"SLC6A8(NM_005629.3):c.366T>C (p.N122=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810048"	"0"	"30"	"X"	"152956901"	"152956901"	"subst"	"0.000100838"	"01943"	"SLC6A8_003252"	"g.152956901C>T"	""	""	""	"SLC6A8(NM_005629.3):c.537C>T (p.P179=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810049"	"0"	"70"	"X"	"152959902"	"152959902"	"del"	"0"	"02326"	"SLC6A8_003253"	"g.152959902del"	""	""	""	"SLC6A8(NM_005629.4):c.1495delG (p.G499Efs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000810050"	"0"	"30"	"X"	"152960025"	"152960025"	"subst"	"9.52445E-5"	"02326"	"SLC6A8_003254"	"g.152960025C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1533C>T (p.I511=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810051"	"0"	"30"	"X"	"152960239"	"152960239"	"subst"	"0.000123789"	"01943"	"SLC6A8_003124"	"g.152960239G>A"	""	""	""	"SLC6A8(NM_005629.3):c.1662G>A (p.P554=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810052"	"0"	"30"	"X"	"152960651"	"152960651"	"subst"	"0.000190803"	"01943"	"SLC6A8_003134"	"g.152960651G>C"	""	""	""	"SLC6A8(NM_005629.3):c.1890G>C (p.V630=), SLC6A8(NM_005629.4):c.1890G>C (p.V630=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000815871"	"0"	"70"	"X"	"152960238"	"152960238"	"subst"	"0"	"00006"	"SLC6A8_003123"	"g.152960238C>T"	""	"{PMID:Nair 2018:30293248}"	""	""	""	"Germline/De novo (untested)"	""	"rs397515559"	"0"	""	""	"g.153694783C>T"	""	"likely pathogenic"	""
"0000867160"	"0"	"30"	"X"	"152960352"	"152960353"	"ins"	"0"	"01943"	"SLC6A8_003255"	"g.152960352_152960353insGC"	""	""	""	"SLC6A8(NM_005629.3):c.1767+8_1767+9insGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000904838"	"20"	"70"	"X"	"152959670"	"152959671"	"del"	"0"	"00006"	"SLC6A8_003256"	"g.152959670_152959671del"	""	"{PMID:Al-Kasbi 2022:36344539}"	""	"NM_001142805.2:c.1310_1311del (Val437GlyfsTer17)"	""	"Germline"	""	""	"0"	""	""	"g.153694215_153694216del"	""	"likely pathogenic (recessive)"	""
"0000915625"	"0"	"30"	"X"	"152954121"	"152954121"	"subst"	"3.32674E-5"	"02327"	"SLC6A8_003250"	"g.152954121C>T"	""	""	""	"SLC6A8(NM_005629.3):c.92C>T (p.P31L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915626"	"0"	"30"	"X"	"152960568"	"152960568"	"subst"	"0"	"02327"	"SLC6A8_003257"	"g.152960568C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000954343"	"21"	"90"	"X"	"152957273"	"152958417"	"del"	"0"	"00006"	"SLC6A8_003258"	"g.152957273_152958417del"	""	"{PMID:Riquin 2023:37495270}"	""	""	"ACMG PVS1, PS3, PM2; not detected by WES"	"Germline"	""	""	"0"	""	""	"g.153691818_153692962del"	""	"pathogenic"	"ACMG"
"0000970851"	"0"	"50"	"X"	"152959459"	"152959459"	"subst"	"0"	"02325"	"SLC6A8_003259"	"g.152959459G>C"	""	""	""	"SLC6A8(NM_005629.4):c.1241G>C (p.G414A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000970854"	"0"	"50"	"X"	"152960288"	"152960288"	"subst"	"0"	"02327"	"SLC6A8_003260"	"g.152960288T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000984533"	"0"	"30"	"X"	"152957011"	"152957011"	"subst"	"0"	"01804"	"SLC6A8_003261"	"g.152957011G>A"	""	""	""	"SLC6A8(NM_005629.4):c.644+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006522"	"0"	"30"	"X"	"152954290"	"152954290"	"subst"	"0"	"01804"	"SLC6A8_003262"	"g.152954290A>G"	""	""	""	"SLC6A8(NM_005629.3):c.261A>G (p.(Gly87Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006523"	"0"	"90"	"X"	"152959871"	"152959871"	"subst"	"0"	"02327"	"SLC6A8_003263"	"g.152959871T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001015994"	"0"	"30"	"X"	"152959879"	"152959879"	"subst"	"0.000128894"	"02325"	"SLC6A8_003264"	"g.152959879C>T"	""	""	""	"SLC6A8(NM_005629.4):c.1473C>T (p.C491=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015995"	"0"	"30"	"X"	"152960269"	"152960269"	"subst"	"0.000107932"	"02327"	"SLC6A8_003214"	"g.152960269C>G"	""	""	""	"SLC6A8(NM_001142805.2):c.1662C>G (p.F554L), SLC6A8(NM_005629.3):c.1692C>G (p.F564L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044182"	"0"	"50"	"X"	"152960321"	"152960321"	"subst"	"0"	"01804"	"SLC6A8_003265"	"g.152960321A>G"	""	""	""	"SLC6A8(NM_005629.4):c.1744A>G (p.(Arg582Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001047941"	"0"	"90"	"X"	"152958811"	"152958813"	"del"	"0"	"03779"	"SLC6A8_003051"	"g.152958811_152958813del"	""	""	""	""	""	"Unknown"	""	"rs782433037"	"0"	""	""	""	""	"pathogenic"	""
"0001059178"	"0"	"70"	"X"	"152958729"	"152958729"	"subst"	"0"	"00006"	"SLC6A8_003266"	"g.152958729T>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.153693274T>A"	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes SLC6A8
## Count = 443
"{{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}}"
"0000064332"	"00023863"	"50"	"1141"	"87"	"1141"	"87"	"c.1141+87A>G"	"r.(=)"	"p.(=)"	"7i"
"0000064333"	"00023863"	"90"	"1496"	"0"	"1498"	"0"	"c.1496_1498del"	"r.(?)"	"p.(Gly499del)"	"10"
"0000064334"	"00023863"	"90"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000064335"	"00023863"	"90"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000064336"	"00023863"	"90"	"541"	"0"	"541"	"0"	"c.541T>C"	"r.(?)"	"p.(Cys181Arg)"	"3"
"0000064337"	"00023863"	"50"	"394"	"88"	"394"	"88"	"c.394+88G>A"	"r.(=)"	"p.(=)"	"2i"
"0000064338"	"00023863"	"50"	"394"	"88"	"394"	"88"	"c.394+88G>A"	"r.(=)"	"p.(=)"	"2i"
"0000064339"	"00023863"	"10"	"262"	"26"	"262"	"26"	"c.262+26T>C"	"r.(=)"	"p.(=)"	"1i"
"0000064340"	"00023863"	"10"	"1141"	"37"	"1141"	"37"	"c.1141+37G>A"	"r.(=)"	"p.(=)"	"7i"
"0000064341"	"00023863"	"50"	"263"	"-95"	"263"	"-95"	"c.263-95G>A"	"r.(=)"	"p.(=)"	"1i"
"0000064342"	"00023863"	"10"	"813"	"0"	"813"	"0"	"c.813C>T"	"r.(=)"	"p.(=)"	"5"
"0000064343"	"00023863"	"50"	"-5"	"0"	"-5"	"0"	"c.-5A>G"	"r.(=)"	"p.(=)"	"1i"
"0000248242"	"00023863"	"10"	"-5"	"0"	"-5"	"0"	"c.-5A>G"	"r.(?)"	"p.(=)"	""
"0000250945"	"00023863"	"10"	"-5"	"0"	"-5"	"0"	"c.-5A>G"	"r.(?)"	"p.(=)"	""
"0000251928"	"00023863"	"30"	"1678"	"0"	"1678"	"0"	"c.1678A>G"	"r.(?)"	"p.(Met560Val)"	""
"0000298354"	"00023863"	"30"	"1038"	"0"	"1038"	"0"	"c.1038C>T"	"r.(?)"	"p.(Leu346=)"	""
"0000298355"	"00023863"	"30"	"1496"	"-18"	"1496"	"-18"	"c.1496-18C>T"	"r.(=)"	"p.(=)"	""
"0000298356"	"00023863"	"30"	"1767"	"15"	"1767"	"15"	"c.1767+15C>T"	"r.(=)"	"p.(=)"	""
"0000298357"	"00023863"	"30"	"644"	"9"	"644"	"9"	"c.644+9G>A"	"r.(=)"	"p.(=)"	""
"0000302295"	"00023863"	"30"	"1016"	"9"	"1016"	"9"	"c.1016+9C>T"	"r.(=)"	"p.(=)"	""
"0000302296"	"00023863"	"30"	"1496"	"-5"	"1496"	"-5"	"c.1496-5C>T"	"r.spl?"	"p.?"	""
"0000302297"	"00023863"	"10"	"1767"	"15"	"1767"	"15"	"c.1767+15C>T"	"r.(=)"	"p.(=)"	""
"0000302298"	"00023863"	"10"	"1768"	"-3"	"1768"	"-3"	"c.1768-3C>T"	"r.spl?"	"p.?"	""
"0000302299"	"00023863"	"30"	"544"	"0"	"544"	"0"	"c.544G>A"	"r.(?)"	"p.(Val182Met)"	""
"0000302300"	"00023863"	"10"	"777"	"4"	"777"	"4"	"c.777+4C>T"	"r.spl?"	"p.?"	""
"0000302301"	"00023863"	"10"	"778"	"-121"	"778"	"-121"	"c.778-121T>C"	"r.(=)"	"p.(=)"	""
"0000308509"	"00023863"	"10"	"1494"	"0"	"1494"	"0"	"c.1494C>T"	"r.(?)"	"p.(Tyr498=)"	""
"0000308510"	"00023863"	"70"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	""
"0000308511"	"00023863"	"30"	"1649"	"0"	"1649"	"0"	"c.1649C>G"	"r.(?)"	"p.(Thr550Ser)"	""
"0000308512"	"00023863"	"30"	"1692"	"0"	"1692"	"0"	"c.1692C>G"	"r.(?)"	"p.(Phe564Leu)"	""
"0000308513"	"00023863"	"30"	"1768"	"-3"	"1768"	"-3"	"c.1768-3C>T"	"r.spl?"	"p.?"	""
"0000308514"	"00023863"	"30"	"813"	"0"	"813"	"0"	"c.813C>T"	"r.(?)"	"p.(Val271=)"	""
"0000336027"	"00023863"	"50"	"778"	"-8"	"778"	"-8"	"c.778-8C>G"	"r.(=)"	"p.(=)"	""
"0000336028"	"00023863"	"50"	"1331"	"0"	"1339"	"0"	"c.1331_1339del"	"r.(?)"	"p.(Glu444_Ser446del)"	""
"0000336029"	"00023863"	"30"	"1459"	"0"	"1459"	"0"	"c.1459G>T"	"r.(?)"	"p.(Ala487Ser)"	""
"0000336030"	"00023863"	"30"	"1494"	"0"	"1494"	"0"	"c.1494C>T"	"r.(?)"	"p.(Tyr498=)"	""
"0000336032"	"00023863"	"50"	"1504"	"0"	"1504"	"0"	"c.1504C>T"	"r.(?)"	"p.(Arg502Cys)"	""
"0000336035"	"00023863"	"50"	"1649"	"0"	"1649"	"0"	"c.1649C>G"	"r.(?)"	"p.(Thr550Ser)"	""
"0000336036"	"00023863"	"50"	"1678"	"0"	"1678"	"0"	"c.1678A>G"	"r.(?)"	"p.(Met560Val)"	""
"0000337264"	"00023863"	"10"	"-5"	"0"	"-5"	"0"	"c.-5A>G"	"r.(?)"	"p.(=)"	""
"0000341468"	"00023863"	"50"	"1459"	"0"	"1459"	"0"	"c.1459G>T"	"r.(?)"	"p.(Ala487Ser)"	""
"0000347156"	"00023863"	"50"	"1234"	"0"	"1234"	"0"	"c.1234C>A"	"r.(?)"	"p.(Leu412Met)"	""
"0000347192"	"00023863"	"50"	"1450"	"0"	"1450"	"0"	"c.1450C>T"	"r.(?)"	"p.(Leu484Phe)"	""
"0000348429"	"00023863"	"70"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	""
"0000349827"	"00023863"	"50"	"1667"	"0"	"1667"	"0"	"c.1667G>C"	"r.(?)"	"p.(Trp556Ser)"	""
"0000350730"	"00023863"	"90"	"645"	"-1"	"645"	"-1"	"c.645-1G>A"	"r.spl?"	"p.?"	""
"0000369173"	"00023863"	"90"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	""
"0000407945"	"00023863"	"00"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	""
"0000408049"	"00023863"	"00"	"644"	"2"	"644"	"3"	"c.644+2_644+3del"	"r.spl?"	"p.?"	""
"0000408050"	"00023863"	"00"	"1202"	"0"	"1202"	"0"	"c.1202T>C"	"r.(?)"	"p.(Leu401Pro)"	""
"0000408051"	"00023863"	"00"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	""
"0000408052"	"00023863"	"00"	"1396"	"0"	"1396"	"0"	"c.1396G>A"	"r.(?)"	"p.(Gly466Arg)"	""
"0000408064"	"00023863"	"00"	"-243224"	"0"	"651145"	"0"	"c.-243224_*649237dup"	"r.0?"	"p.0?"	""
"0000412804"	"00023863"	"99"	"778"	"-2"	"778"	"-2"	"c.778-2A>G"	"r.spl"	"p.?"	"4i"
"0000412805"	"00023863"	"99"	"778"	"-2"	"778"	"-2"	"c.778-2A>G"	"r.spl"	"p.?"	"4i"
"0000412806"	"00023863"	"99"	"778"	"-2"	"778"	"-2"	"c.778-2A>G"	"r.spl"	"p.?"	"4i"
"0000412807"	"00023863"	"99"	"1016"	"2"	"1016"	"2"	"c.1016+2T>C"	"r.spl?"	"p.?"	"6i"
"0000412808"	"00023863"	"99"	"1596"	"1"	"1596"	"1"	"c.1596+1G>A"	"r.spl"	"p.?"	"11i"
"0000412809"	"00023863"	"99"	"1596"	"1"	"1596"	"1"	"c.1596+1G>A"	"r.spl"	"p.?"	"11i"
"0000412810"	"00023863"	"11"	"2115"	"0"	"2115"	"0"	"c.*207G>C"	"r.="	"p.="	"13"
"0000412811"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412812"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412813"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412814"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412815"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412816"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412817"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>C"	"r.[1141G>C, 1129_1141del]"	"p.[Gly381Arg, Val377Glyfs*15]"	"7"
"0000412818"	"00023863"	"99"	"263"	"-2"	"263"	"-2"	"c.263-2A>G"	"r.263_325del"	"p.Gly88_Leu108del"	"1i"
"0000412819"	"00023863"	"99"	"263"	"-2"	"263"	"-2"	"c.263-2A>G"	"r.263_325del"	"p.Gly88_Leu108del"	"1i"
"0000412820"	"00023863"	"99"	"912"	"0"	"912"	"0"	"c.912G>A"	"r.772_912del"	"p.Ile260_Gln304del"	"5"
"0000412821"	"00023863"	"99"	"912"	"0"	"912"	"0"	"c.912G>A"	"r.772_912del"	"p.Ile260_Gln304del"	"5"
"0000412822"	"00023863"	"99"	"1495"	"5"	"1495"	"5"	"c.1495+5G>C"	"r.1393_1495del"	"p.Gly465Glufs*12"	"10i"
"0000412823"	"00023863"	"99"	"1495"	"5"	"1495"	"5"	"c.1495+5G>C"	"r.1393_1495del"	"p.Gly465Glufs*12"	"10i"
"0000412824"	"00023863"	"99"	"1495"	"5"	"1495"	"5"	"c.1495+5G>C"	"r.1393_1495del"	"p.Gly465Glufs*12"	"10i"
"0000412825"	"00023863"	"99"	"1392"	"24"	"1393"	"-30"	"c.1392+24_1393-30del"	"r.[1392_1393ins1392+1_1393-1;1392+24_1393-30del, 1393_1495del]"	"p.(=)"	"9i"
"0000412826"	"00023863"	"99"	"1392"	"24"	"1393"	"-30"	"c.1392+24_1393-30del"	"r.[1392_1393ins1392+1_1393-1;1392+24_1393-30del, 1393_1495del]"	"p.(=)"	"9i"
"0000412828"	"00023863"	"11"	"1141"	"37"	"1141"	"37"	"c.1141+37G>A"	"r.(?)"	"p.(=)"	"7i"
"0000412829"	"00023863"	"11"	"1141"	"87"	"1141"	"87"	"c.1141+87A>G"	"r.(?)"	"p.(=)"	"7i"
"0000412830"	"00023863"	"11"	"394"	"88"	"394"	"88"	"c.394+88G>C"	"r.(?)"	"p.(=)"	"2i"
"0000412831"	"00023863"	"11"	"262"	"26"	"262"	"26"	"c.262+26T>C"	"r.(?)"	"p.(=)"	"1i"
"0000412832"	"00023863"	"11"	"1142"	"-35"	"1142"	"-35"	"c.1142-35G>A"	"r.(?)"	"p.(=)"	"7i"
"0000412833"	"00023863"	"11"	"1393"	"-36"	"1393"	"-36"	"c.1393-36G>A"	"r.(?)"	"p.(=)"	"9i"
"0000412834"	"00023863"	"11"	"1768"	"-82"	"1768"	"-82"	"c.1768-82G>C"	"r.(?)"	"p.(=)"	"12i"
"0000412835"	"00023863"	"11"	"394"	"88"	"394"	"88"	"c.394+88G>A"	"r.(?)"	"p.(=)"	"2i"
"0000412836"	"00023863"	"11"	"1768"	"-3"	"1768"	"-3"	"c.1768-3C>T"	"r.(?)"	"p.(=)"	"12i"
"0000412837"	"00023863"	"11"	"813"	"0"	"813"	"0"	"c.813C>T"	"r.(?)"	"p.(=)"	"5"
"0000412838"	"00023863"	"11"	"1494"	"0"	"1494"	"0"	"c.1494C>T"	"r.(?)"	"p.(=)"	"10"
"0000412839"	"00023863"	"11"	"544"	"0"	"544"	"0"	"c.544G>A"	"r.(?)"	"p.(Val182Met)"	"3"
"0000412840"	"00023863"	"11"	"1678"	"0"	"1678"	"0"	"c.1678A>G"	"r.(?)"	"p.(Met560Val)"	"12"
"0000412841"	"00023863"	"99"	"428"	"0"	"430"	"0"	"c.428_430del"	"r.(?)"	"p.(Tyr143del)"	"3"
"0000412842"	"00023863"	"33"	"780"	"0"	"780"	"0"	"c.780C>T"	"r.(?)"	"p.(=)"	"5"
"0000412843"	"00023863"	"11"	"1597"	"-20"	"1597"	"-20"	"c.1597-20C>T"	"r.(?)"	"p.(=)"	"11i"
"0000412844"	"00023863"	"11"	"1016"	"41"	"1016"	"45"	"c.1016+41_1016+45del"	"r.(?)"	"p.(=)"	"6i"
"0000412845"	"00023863"	"33"	"1254"	"39"	"1254"	"39"	"c.1254+39G>T"	"r.(?)"	"p.(=)"	"8i"
"0000412846"	"00023863"	"33"	"1017"	"-38"	"1017"	"-38"	"c.1017-38C>G"	"r.(?)"	"p.(=)"	"6i"
"0000412847"	"00023863"	"33"	"913"	"-40"	"913"	"-40"	"c.913-40T>C"	"r.(?)"	"p.(=)"	"5i"
"0000412848"	"00023863"	"33"	"1496"	"-5"	"1496"	"-5"	"c.1496-5C>T"	"r.(?)"	"p.(=)"	"10i"
"0000412849"	"00023863"	"33"	"1496"	"-7"	"1496"	"-7"	"c.1496-7G>A"	"r.(?)"	"p.(=)"	"10i"
"0000412850"	"00023863"	"33"	"1629"	"0"	"1629"	"0"	"c.1629G>A"	"r.(?)"	"p.(=)"	"12"
"0000412851"	"00023863"	"33"	"777"	"4"	"777"	"4"	"c.777+4C>T"	"r.(?)"	"p.(=)"	"4i"
"0000412852"	"00023863"	"33"	"495"	"0"	"495"	"0"	"c.495C>T"	"r.(?)"	"p.(=)"	"3"
"0000412853"	"00023863"	"33"	"644"	"9"	"644"	"9"	"c.644+9G>A"	"r.(?)"	"p.(=)"	"3i"
"0000412854"	"00023863"	"99"	"1059"	"0"	"1061"	"0"	"c.1059_1061del"	"r.(?)"	"p.(Phe354del)"	"7"
"0000412855"	"00023863"	"99"	"1417"	"0"	"1420"	"0"	"c.1417_1420del"	"r.(?)"	"p.(Phe473Thrfs*37)"	"10"
"0000412856"	"00023863"	"99"	"1372"	"0"	"1375"	"0"	"c.1372_1375del"	"r.(?)"	"p.(Asp458Serfs*4)"	"9"
"0000412859"	"00023863"	"99"	"786"	"0"	"786"	"0"	"c.786C>G"	"r.(?)"	"p.(Tyr262*)"	"5"
"0000412860"	"00023863"	"33"	"1416"	"0"	"1416"	"0"	"c.1416G>A"	"r.(?)"	"p.(=)"	"10"
"0000412861"	"00023863"	"33"	"1142"	"-98"	"1142"	"-98"	"c.1142-98C>A"	"r.(?)"	"p.(=)"	"7i"
"0000412862"	"00023863"	"33"	"1254"	"54"	"1254"	"54"	"c.1254+54C>T"	"r.(?)"	"p.(=)"	"8i"
"0000412863"	"00023863"	"33"	"394"	"66"	"394"	"66"	"c.394+66C>A"	"r.(?)"	"p.(=)"	"2i"
"0000412864"	"00023863"	"33"	"603"	"0"	"603"	"0"	"c.603C>T"	"r.(?)"	"p.(=)"	"3"
"0000412865"	"00023863"	"33"	"856"	"0"	"856"	"0"	"c.856C>T"	"r.(?)"	"p.(=)"	"5"
"0000412866"	"00023863"	"33"	"1142"	"-100"	"1142"	"-100"	"c.1142-100G>A"	"r.(?)"	"p.(=)"	"7i"
"0000412867"	"00023863"	"33"	"1254"	"54"	"1254"	"54"	"c.1254+54C>T"	"r.(?)"	"p.(=)"	"8i"
"0000412868"	"00023863"	"33"	"1392"	"31"	"1392"	"31"	"c.1392+31T>C"	"r.(?)"	"p.(=)"	"9i"
"0000412869"	"00023863"	"33"	"1392"	"12"	"1392"	"12"	"c.1392+12G>T"	"r.(?)"	"p.(=)"	"9i"
"0000412870"	"00023863"	"33"	"1596"	"28"	"1596"	"28"	"c.1596+28C>T"	"r.(?)"	"p.(=)"	"11i"
"0000412871"	"00023863"	"33"	"1662"	"0"	"1662"	"0"	"c.1662G>A"	"r.(?)"	"p.(=)"	"12"
"0000412872"	"00023863"	"33"	"1016"	"41"	"1016"	"45"	"c.1016+41_1016+45dup"	"r.(?)"	"p.(=)"	"6i"
"0000412873"	"00023863"	"33"	"1142"	"-130"	"1142"	"-130"	"c.1142-130C>T"	"r.(?)"	"p.(=)"	"7i"
"0000412874"	"00023863"	"33"	"394"	"52"	"394"	"52"	"c.394+52C>T"	"r.(?)"	"p.(=)"	"2i"
"0000412875"	"00023863"	"33"	"1142"	"-122"	"1142"	"-122"	"c.1142-122C>T"	"r.(?)"	"p.(=)"	"7i"
"0000412876"	"00023863"	"33"	"1142"	"-19"	"1142"	"-19"	"c.1142-19G>A"	"r.(?)"	"p.(=)"	"7i"
"0000412877"	"00023863"	"33"	"262"	"53"	"262"	"53"	"c.262+53G>C"	"r.(?)"	"p.(=)"	"1i"
"0000412878"	"00023863"	"33"	"1141"	"18"	"1141"	"18"	"c.1141+18G>A"	"r.(?)"	"p.(=)"	"7i"
"0000412879"	"00023863"	"33"	"394"	"72"	"394"	"72"	"c.394+72C>A"	"r.(?)"	"p.(=)"	"2i"
"0000412880"	"00023863"	"33"	"1437"	"0"	"1437"	"0"	"c.1437C>T"	"r.(?)"	"p.(=)"	"10"
"0000412881"	"00023863"	"33"	"306"	"0"	"306"	"0"	"c.306A>G"	"r.(?)"	"p.(=)"	"2"
"0000412882"	"00023863"	"11"	"1162"	"0"	"1162"	"0"	"c.1162G>A"	"r.(?)"	"p.(Ala388Thr)"	"8"
"0000412883"	"00023863"	"31"	"1890"	"0"	"1890"	"0"	"c.1890G>C"	"r.(?)"	"p.(=)"	"13"
"0000412885"	"00023863"	"11"	"262"	"65"	"262"	"65"	"c.262+65G>A"	"r.(?)"	"p.(=)"	"1i"
"0000412886"	"00023863"	"11"	"1496"	"-8"	"1496"	"-8"	"c.1496-8C>T"	"r.(?)"	"p.(=)"	"10i"
"0000412887"	"00023863"	"99"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"3"
"0000412888"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412889"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412890"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412891"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412892"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412893"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412894"	"00023863"	"99"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514*)"	"11"
"0000412896"	"00023863"	"11"	"1142"	"-152"	"1142"	"-151"	"c.1142-151_1142-152del"	"r.="	"p.="	"7i"
"0000412897"	"00023863"	"11"	"1254"	"28"	"1254"	"28"	"c.1254+28C>T"	"r.="	"p.="	"8i"
"0000412898"	"00023863"	"11"	"1016"	"9"	"1016"	"9"	"c.1016+9C>T"	"r.="	"p.="	"6i"
"0000412899"	"00023863"	"11"	"1255"	"-35"	"1255"	"-35"	"c.1255-35G>A"	"r.="	"p.="	"8i"
"0000412900"	"00023863"	"11"	"1767"	"32"	"1767"	"32"	"c.1767+32C>A"	"r.="	"p.="	"12i"
"0000412901"	"00023863"	"11"	"1596"	"21"	"1596"	"21"	"c.1596+21G>A"	"r.="	"p.="	"11i"
"0000412902"	"00023863"	"11"	"1496"	"-18"	"1496"	"-18"	"c.1496-18C>T"	"r.="	"p.="	"10i"
"0000412903"	"00023863"	"11"	"1767"	"15"	"1767"	"15"	"c.1767+15C>T"	"r.="	"p.="	"12i"
"0000412904"	"00023863"	"11"	"1596"	"24"	"1597"	"-41"	"c.1596+24_1597-41dup"	"r.="	"p.="	"11i"
"0000412905"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412906"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412907"	"00023863"	"57"	"541"	"0"	"541"	"0"	"c.541T>C"	"r.(?)"	"p.(Cys181Arg)"	"3"
"0000412908"	"00023863"	"99"	"676"	"0"	"676"	"0"	"c.676G>T"	"r.(?)"	"p.(Glu226*)"	"4"
"0000412909"	"00023863"	"99"	"786"	"0"	"786"	"0"	"c.786C>G"	"r.(?)"	"p.(Tyr262*)"	"5"
"0000412910"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412911"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412912"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412913"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412914"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412915"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412916"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412917"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412918"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412919"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412920"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412921"	"00023863"	"99"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	"8"
"0000412922"	"00023863"	"99"	"262"	"0"	"262"	"1"	"c.262_262+1delinsTT"	"r.spl"	"p.?"	"1i"
"0000412923"	"00023863"	"99"	"263"	"-1"	"263"	"-1"	"c.263-1G>C"	"r.263_325del"	"p.Gly88_Leu108del"	"1i"
"0000412924"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412925"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412926"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412927"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412928"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412929"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412930"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412931"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412932"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412933"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412934"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412935"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412936"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412937"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412938"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412939"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412940"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412941"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412942"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412943"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	"6"
"0000412949"	"00023863"	"11"	"1516"	"0"	"1516"	"0"	"c.1516G>A"	"r.(?)"	"p.(Asp506Asn)"	"11"
"0000412952"	"00023863"	"11"	"11"	"0"	"11"	"0"	"c.11A>G"	"r.(?)"	"p.(Lys4Arg)"	"1"
"0000412953"	"00023863"	"11"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Gly26Arg)"	"1"
"0000412954"	"00023863"	"11"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.(Val629Ile)"	"13"
"0000412955"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412956"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412957"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412958"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412959"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412960"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412961"	"00023863"	"99"	"259"	"0"	"259"	"0"	"c.259G>A"	"r.(?)"	"p.(Gly87Arg)"	"1"
"0000412962"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412963"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412964"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412965"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412966"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412967"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412968"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412969"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412970"	"00023863"	"99"	"950"	"0"	"950"	"0"	"c.950dup"	"r.(?)"	"p.(Tyr317*)"	"6"
"0000412971"	"00023863"	"99"	"950"	"0"	"950"	"0"	"c.950dup"	"r.(?)"	"p.(Tyr317*)"	"6"
"0000412972"	"00023863"	"99"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.(Cys337Trp)"	"6"
"0000412973"	"00023863"	"99"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.(Cys337Trp)"	"6"
"0000412974"	"00023863"	"99"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.(Cys337Trp)"	"6"
"0000412975"	"00023863"	"99"	"1040"	"0"	"1042"	"0"	"c.1040_1042del"	"r.(?)"	"p.(Ile347del)"	"7"
"0000412976"	"00023863"	"99"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.(Arg391Trp)"	"8"
"0000412977"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412978"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412979"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412980"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412981"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412982"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412983"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412984"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412985"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412986"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412987"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412988"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412989"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412990"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412991"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412992"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412993"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	"2"
"0000412994"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	"12"
"0000412995"	"00023863"	"99"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.(Arg391Trp)"	"8"
"0000412996"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412997"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Pro390Leu)"	"8"
"0000412998"	"00023863"	"57"	"370"	"0"	"370"	"0"	"c.370T>C"	"r.(?)"	"p.(Trp124Arg)"	"2"
"0000412999"	"00023863"	"57"	"370"	"0"	"370"	"0"	"c.370T>C"	"r.(?)"	"p.(Trp124Arg)"	"2"
"0000413001"	"00023863"	"33"	"1767"	"20"	"1767"	"20"	"c.1767+20C>T"	"r.(?)"	"p.(=)"	"12i"
"0000413007"	"00023863"	"99"	"291"	"0"	"292"	"0"	"c.291_292insAGGG"	"r.(?)"	"p.(Ala98Argfs*92)"	"2"
"0000413008"	"00023863"	"99"	"570"	"0"	"571"	"0"	"c.570_571del"	"r.(?)"	"p.(Ala191Glnfs*10)"	"3"
"0000413009"	"00023863"	"57"	"370"	"0"	"370"	"0"	"c.370T>C"	"r.(?)"	"p.(Trp124Arg)"	"2"
"0000413010"	"00023863"	"77"	"395"	"0"	"395"	"0"	"c.395G>T"	"r.(?)"	"p.(Gly132Val)"	"3"
"0000413011"	"00023863"	"77"	"395"	"0"	"395"	"0"	"c.395G>T"	"r.(?)"	"p.(Gly132Val)"	"3"
"0000413012"	"00023863"	"99"	"428"	"0"	"430"	"0"	"c.428_430del"	"r.(?)"	"p.(Tyr143del)"	"3"
"0000413013"	"00023863"	"99"	"428"	"0"	"430"	"0"	"c.428_430del"	"r.(?)"	"p.(Tyr143del)"	"3"
"0000413014"	"00023863"	"57"	"729"	"0"	"729"	"0"	"c.729G>T"	"r.(?)"	"p.(Trp243Cys)"	"4"
"0000413015"	"00023863"	"99"	"878"	"0"	"879"	"0"	"c.878_879del"	"r.(?)"	"p.(Lys293fs*3)"	"5"
"0000413016"	"00023863"	"99"	"878"	"0"	"879"	"0"	"c.878_879del"	"r.(?)"	"p.(Lys293fs*3)"	"5"
"0000413017"	"00023863"	"99"	"884"	"0"	"885"	"0"	"c.884_885del"	"r.(?)"	"p.(Pro295Argfs*169)"	"5"
"0000413018"	"00023863"	"99"	"884"	"0"	"885"	"0"	"c.884_885del"	"r.(?)"	"p.(Pro295Argfs*169)"	"5"
"0000413019"	"00023863"	"99"	"942"	"0"	"944"	"0"	"c.942_944del"	"r.(?)"	"p.(Phe315del)"	"6"
"0000413020"	"00023863"	"99"	"942"	"0"	"944"	"0"	"c.942_944del"	"r.(?)"	"p.(Phe315del)"	"6"
"0000413021"	"00023863"	"99"	"974"	"0"	"975"	"0"	"c.974_975del"	"r.(?)"	"p.(Thr325Serfs*139)"	"6"
"0000413022"	"00023863"	"99"	"1059"	"0"	"1061"	"0"	"c.1059_1061del"	"r.(?)"	"p.(Phe354del)"	"7"
"0000413023"	"00023863"	"99"	"1059"	"0"	"1061"	"0"	"c.1059_1061del"	"r.(?)"	"p.(Phe354del)"	"7"
"0000413024"	"00023863"	"99"	"917"	"0"	"917"	"0"	"c.917G>A"	"r.(?)"	"p.(Trp306*)"	"6"
"0000413025"	"00023863"	"99"	"917"	"0"	"917"	"0"	"c.917G>A"	"r.(?)"	"p.(Trp306*)"	"6"
"0000413026"	"00023863"	"99"	"917"	"0"	"917"	"0"	"c.917G>A"	"r.(?)"	"p.(Trp306*)"	"6"
"0000413027"	"00023863"	"99"	"1090"	"0"	"1090"	"0"	"c.1090G>T"	"r.(?)"	"p.(Gly364Cys)"	"7"
"0000413028"	"00023863"	"99"	"1090"	"0"	"1090"	"0"	"c.1090G>T"	"r.(?)"	"p.(Gly364Cys)"	"7"
"0000413029"	"00023863"	"99"	"1090"	"0"	"1090"	"0"	"c.1090G>T"	"r.(?)"	"p.(Gly364Cys)"	"7"
"0000413030"	"00023863"	"77"	"1145"	"0"	"1145"	"0"	"c.1145C>T"	"r.(?)"	"p.(Pro382Leu)"	"8"
"0000413031"	"00023863"	"77"	"1145"	"0"	"1145"	"0"	"c.1145C>T"	"r.(?)"	"p.(Pro382Leu)"	"8"
"0000413032"	"00023863"	"99"	"1206"	"0"	"1206"	"0"	"c.1206G>A"	"r.(?)"	"p.(Trp402*)"	"8"
"0000413033"	"00023863"	"99"	"1206"	"0"	"1206"	"0"	"c.1206G>A"	"r.(?)"	"p.(Trp402*)"	"8"
"0000413034"	"00023863"	"99"	"1206"	"0"	"1206"	"0"	"c.1206G>A"	"r.(?)"	"p.(Trp402*)"	"8"
"0000413035"	"00023863"	"99"	"1206"	"0"	"1206"	"0"	"c.1206G>A"	"r.(?)"	"p.(Trp402*)"	"8"
"0000413036"	"00023863"	"99"	"1206"	"0"	"1206"	"0"	"c.1206G>A"	"r.(?)"	"p.(Trp402*)"	"8"
"0000413037"	"00023863"	"99"	"1206"	"0"	"1206"	"0"	"c.1206G>A"	"r.(?)"	"p.(Trp402*)"	"8"
"0000413038"	"00023863"	"57"	"1166"	"0"	"1166"	"0"	"c.1166A>G"	"r.(?)"	"p.(Tyr389Cys)"	"8"
"0000413039"	"00023863"	"99"	"1318"	"0"	"1318"	"0"	"c.1318dup"	"r.(?)"	"p.(Arg440Profs*25)"	"9"
"0000413040"	"00023863"	"99"	"1318"	"0"	"1318"	"0"	"c.1318dup"	"r.(?)"	"p.(Arg440Profs*25)"	"9"
"0000413041"	"00023863"	"99"	"1318"	"0"	"1318"	"0"	"c.1318dup"	"r.(?)"	"p.(Arg440Profs*25)"	"9"
"0000413042"	"00023863"	"99"	"1318"	"0"	"1318"	"0"	"c.1318dup"	"r.(?)"	"p.(Arg440Profs*25)"	"9"
"0000413043"	"00023863"	"99"	"1318"	"0"	"1318"	"0"	"c.1318dup"	"r.(?)"	"p.(Arg440Profs*25)"	"9"
"0000413044"	"00023863"	"99"	"1318"	"0"	"1318"	"0"	"c.1318dup"	"r.(?)"	"p.(Arg440Profs*25)"	"9"
"0000413045"	"00023863"	"99"	"1372"	"0"	"1375"	"0"	"c.1372_1375del"	"r.(?)"	"p.(Asp458Serfs*4)"	"9"
"0000413046"	"00023863"	"57"	"1261"	"0"	"1261"	"0"	"c.1261G>C"	"r.(?)"	"p.(Gly421Arg)"	"9"
"0000413047"	"00023863"	"57"	"1261"	"0"	"1261"	"0"	"c.1261G>C"	"r.(?)"	"p.(Gly421Arg)"	"9"
"0000413048"	"00023863"	"57"	"1261"	"0"	"1261"	"0"	"c.1261G>C"	"r.(?)"	"p.(Gly421Arg)"	"9"
"0000413049"	"00023863"	"77"	"1271"	"0"	"1271"	"0"	"c.1271G>A"	"r.(?)"	"p.(Gly424Asp)"	"9"
"0000413050"	"00023863"	"77"	"1271"	"0"	"1271"	"0"	"c.1271G>A"	"r.(?)"	"p.(Gly424Asp)"	"9"
"0000413051"	"00023863"	"77"	"1271"	"0"	"1271"	"0"	"c.1271G>A"	"r.(?)"	"p.(Gly424Asp)"	"9"
"0000413052"	"00023863"	"77"	"1271"	"0"	"1271"	"0"	"c.1271G>A"	"r.(?)"	"p.(Gly424Asp)"	"9"
"0000413053"	"00023863"	"57"	"1381"	"0"	"1381"	"0"	"c.1381A>G"	"r.(?)"	"p.(Met461Val)"	"9"
"0000413054"	"00023863"	"57"	"1381"	"0"	"1381"	"0"	"c.1381A>G"	"r.(?)"	"p.(Met461Val)"	"9"
"0000413055"	"00023863"	"99"	"1299"	"0"	"1309"	"0"	"c.1299_1309del"	"r.(?)"	"p.(Pro434Leufs*27)"	"9"
"0000413056"	"00023863"	"99"	"1299"	"0"	"1309"	"0"	"c.1299_1309del"	"r.(?)"	"p.(Pro434Leufs*27)"	"9"
"0000413057"	"00023863"	"99"	"1299"	"0"	"1309"	"0"	"c.1299_1309del"	"r.(?)"	"p.(Pro434Leufs*27)"	"9"
"0000413058"	"00023863"	"99"	"1299"	"0"	"1309"	"0"	"c.1299_1309del"	"r.(?)"	"p.(Pro434Leufs*27)"	"9"
"0000413059"	"00023863"	"99"	"1432"	"0"	"1432"	"0"	"c.1432dup"	"r.(?)"	"p.(Ala478Glyfs*24)"	"10"
"0000413060"	"00023863"	"77"	"1473"	"0"	"1473"	"0"	"c.1473C>G"	"r.(?)"	"p.(Cys491Trp)"	"10"
"0000413061"	"00023863"	"77"	"1473"	"0"	"1473"	"0"	"c.1473C>G"	"r.(?)"	"p.(Cys491Trp)"	"10"
"0000413062"	"00023863"	"77"	"1472"	"0"	"1472"	"0"	"c.1472G>A"	"r.(?)"	"p.(Cys491Tyr)"	"10"
"0000413063"	"00023863"	"99"	"1417"	"0"	"1420"	"0"	"c.1417_1420del"	"r.(?)"	"p.(Phe473Thrfs*37)"	"10"
"0000413064"	"00023863"	"99"	"1519"	"0"	"1543"	"0"	"c.1519_1543del"	"r.(?)"	"p.(Ile507Leufs*5)"	"11"
"0000413065"	"00023863"	"99"	"1519"	"0"	"1543"	"0"	"c.1519_1543del"	"r.(?)"	"p.(Ile507Leufs*5)"	"11"
"0000413066"	"00023863"	"99"	"1554"	"0"	"1554"	"0"	"c.1554G>A"	"r.(?)"	"p.(Trp518*)"	"11"
"0000413067"	"00023863"	"99"	"1607"	"0"	"1612"	"0"	"c.1607_1612del"	"r.(?)"	"p.(Ile536_Phe537del)"	"12"
"0000413068"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413069"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413070"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413071"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413072"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413073"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413074"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413075"	"00023863"	"77"	"1631"	"0"	"1631"	"0"	"c.1631C>T"	"r.(?)"	"p.(Pro544Leu)"	"12"
"0000413076"	"00023863"	"99"	"1667"	"0"	"1667"	"0"	"c.1667G>A"	"r.(?)"	"p.(Trp556*)"	"12"
"0000413077"	"00023863"	"99"	"1667"	"0"	"1667"	"0"	"c.1667G>A"	"r.(?)"	"p.(Trp556*)"	"12"
"0000413078"	"00023863"	"99"	"1690"	"0"	"1703"	"0"	"c.1690_1703del"	"r.(?)"	"p.(Phe564Hisfs*21)"	"12"
"0000413080"	"00023863"	"99"	"-1"	"0"	"1909"	"0"	"c.-1_*1del"	"r.(?)"	"p.0?"	"_1_13_"
"0000413081"	"00023863"	"99"	"1142"	"-1"	"1908"	"1"	"c.1142-1_1908+1del"	"r.(?)"	"p.?"	"7i_13_"
"0000413082"	"00023863"	"99"	"462"	"0"	"462"	"0"	"c.462G>A"	"r.(?)"	"p.(Trp154*)"	"3"
"0000413083"	"00023863"	"99"	"1079"	"0"	"1081"	"0"	"c.1079_1081del"	"r.(?)"	"p.(Phe360del)"	"7"
"0000413084"	"00023863"	"99"	"1079"	"0"	"1081"	"0"	"c.1079_1081del"	"r.(?)"	"p.(Phe360del)"	"7"
"0000413085"	"00023863"	"99"	"1079"	"0"	"1081"	"0"	"c.1079_1081del"	"r.(?)"	"p.(Phe360del)"	"7"
"0000413086"	"00023863"	"99"	"1079"	"0"	"1081"	"0"	"c.1079_1081del"	"r.(?)"	"p.(Phe360del)"	"7"
"0000413087"	"00023863"	"99"	"219"	"0"	"219"	"0"	"c.219del"	"r.(?)"	"p.(Asn74Thrfs*23)"	"1"
"0000413088"	"00023863"	"99"	"219"	"0"	"219"	"0"	"c.219del"	"r.(?)"	"p.(Asn74Thrfs*23)"	"1"
"0000413089"	"00023863"	"99"	"467"	"0"	"469"	"0"	"c.467_469del"	"r.(?)"	"p.(Phe156del)"	"3"
"0000413090"	"00023863"	"99"	"467"	"0"	"469"	"0"	"c.467_469del"	"r.(?)"	"p.(Phe156del)"	"3"
"0000413091"	"00023863"	"99"	"986"	"0"	"986"	"0"	"c.986G>T"	"r.(?)"	"p.(Ser329Ile)"	"6"
"0000413092"	"00023863"	"99"	"1667"	"0"	"1667"	"0"	"c.1667G>A"	"r.(?)"	"p.(Trp556*)"	"12"
"0000413093"	"00023863"	"99"	"1667"	"0"	"1667"	"0"	"c.1667G>A"	"r.(?)"	"p.(Trp556*)"	"12"
"0000413094"	"00023863"	"99"	"570"	"0"	"571"	"0"	"c.570_571del"	"r.(?)"	"p.(Ala191Glnfs*10)"	"3"
"0000413095"	"00023863"	"99"	"1105"	"0"	"1105"	"0"	"c.1105G>A"	"r.(?)"	"p.(Glu369Lys)"	"7"
"0000413096"	"00023863"	"99"	"1105"	"0"	"1105"	"0"	"c.1105G>A"	"r.(?)"	"p.(Glu369Lys)"	"7"
"0000413099"	"00023863"	"99"	"1685"	"0"	"1685"	"0"	"c.1685G>A"	"r.(?)"	"p.(Trp562*)"	"12"
"0000413100"	"00023863"	"99"	"1428"	"0"	"1428"	"0"	"c.1428C>G"	"r.(?)"	"p.(Tyr476*)"	"10"
"0000413101"	"00023863"	"99"	"1428"	"0"	"1428"	"0"	"c.1428C>G"	"r.(?)"	"p.(Tyr476*)"	"10"
"0000413103"	"00023863"	"99"	"1299"	"0"	"1309"	"0"	"c.1299_1309del"	"r.(?)"	"p.(Pro434Leufs*27)"	"9"
"0000413104"	"00023863"	"99"	"1299"	"0"	"1309"	"0"	"c.1299_1309del"	"r.(?)"	"p.(Pro434Leufs*27)"	"9"
"0000413106"	"00023863"	"99"	"1141"	"0"	"1141"	"0"	"c.1141G>A"	"r.(?)"	"p.(Gly381Arg)"	"7"
"0000413107"	"00023863"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Gln486*)"	"10"
"0000413108"	"00023863"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Gln486*)"	"10"
"0000413109"	"00023863"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Gln486*)"	"10"
"0000413110"	"00023863"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Gln486*)"	"10"
"0000413111"	"00023863"	"99"	"1519"	"0"	"1543"	"0"	"c.1519_1543del"	"r.(?)"	"p.(Ile507Leufs*5)"	"11"
"0000413114"	"00023863"	"95"	"943"	"0"	"943"	"0"	"c.943T>A"	"r.(?)"	"p.(Phe315Ile)"	"6"
"0000413123"	"00023863"	"99"	"1417"	"0"	"1420"	"0"	"c.1417_1420del"	"r.(?)"	"p.(Phe473Thrfs*37)"	"10"
"0000413125"	"00023863"	"99"	"1430"	"0"	"1430"	"0"	"c.1430C>T"	"r.(?)"	"p.(Ser477Leu)"	"10"
"0000413128"	"00023863"	"95"	"943"	"0"	"943"	"0"	"c.943T>A"	"r.(?)"	"p.(Phe315Ile)"	"6"
"0000413138"	"00023863"	"99"	"1432"	"0"	"1432"	"0"	"c.1432dup"	"r.(?)"	"p.(Ala478Glyfs*24)"	"10"
"0000413140"	"00023863"	"99"	"1428"	"0"	"1428"	"0"	"c.1428C>G"	"r.(?)"	"p.(Tyr476*)"	"10"
"0000413141"	"00023863"	"99"	"1428"	"0"	"1428"	"0"	"c.1428C>G"	"r.(?)"	"p.(Tyr476*)"	"10"
"0000413142"	"00023863"	"99"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Gly356Val)"	"7"
"0000413143"	"00023863"	"99"	"1136"	"0"	"1137"	"0"	"c.1136_1137del"	"r.(?)"	"p.(Glu379Valfs*85)"	"7"
"0000413144"	"00023863"	"95"	"262"	"1"	"262"	"1"	"c.262+1G>T"	"r.spl"	"p.?"	"1i"
"0000413151"	"00023863"	"33"	"263"	"-95"	"263"	"-95"	"c.263-95G>A"	"r.(?)"	"p.(=)"	"1i"
"0000413157"	"00023863"	"99"	"1210"	"0"	"1210"	"0"	"c.1210G>C"	"r.(?)"	"p.(Ala404Pro)"	"8"
"0000413158"	"00023863"	"99"	"1396"	"0"	"1396"	"0"	"c.1396G>A"	"r.(?)"	"p.(Gly466Arg)"	"10"
"0000413159"	"00023863"	"77"	"395"	"0"	"395"	"0"	"c.395G>T"	"r.(?)"	"p.(Gly132Val)"	"3"
"0000413160"	"00023863"	"57"	"1105"	"0"	"1105"	"0"	"c.1105G>A"	"r.(?)"	"p.(Glu369Lys)"	"7"
"0000413161"	"00023863"	"99"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Gly356Val)"	"7"
"0000413162"	"00023863"	"77"	"395"	"0"	"395"	"0"	"c.395G>T"	"r.(?)"	"p.(Gly132Val)"	"3"
"0000413163"	"00023863"	"57"	"1105"	"0"	"1105"	"0"	"c.1105G>A"	"r.(?)"	"p.(Glu369Lys)"	"7"
"0000413164"	"00023863"	"99"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Gly356Val)"	"7"
"0000413165"	"00023863"	"99"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Gly356Val)"	"7"
"0000413166"	"00023863"	"99"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Gly356Val)"	"7"
"0000413174"	"00023863"	"99"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.Asn336del"	"6"
"0000413175"	"00023863"	"99"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.Cys337Trp"	"6"
"0000413176"	"00023863"	"99"	"1040"	"0"	"1042"	"0"	"c.1040_1042del"	"r.(?)"	"p.Ile347del"	"7"
"0000413177"	"00023863"	"99"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.Pro390Leu"	"8"
"0000413178"	"00023863"	"99"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.Arg391Trp"	"8"
"0000413179"	"00023863"	"11"	"11"	"0"	"11"	"0"	"c.11A>G"	"r.(?)"	"p.Lys4Arg"	"1"
"0000413180"	"00023863"	"11"	"1516"	"0"	"1516"	"0"	"c.1516G>A"	"r.(?)"	"p.Asp506Asn"	"11"
"0000413182"	"00023863"	"99"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.Pro554Leu"	"12"
"0000413183"	"00023863"	"11"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.Val629Ile"	"13"
"0000413184"	"00023863"	"99"	"259"	"0"	"259"	"0"	"c.259G>A"	"r.(?)"	"p.Gly87Arg"	"1"
"0000413185"	"00023863"	"99"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.Phe107del"	"2"
"0000413186"	"00023863"	"11"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.Gly26Arg"	"1"
"0000413187"	"00023863"	"99"	"950"	"0"	"950"	"0"	"c.950dup"	"r.(?)"	"p.Tyr317*"	"6"
"0000574292"	"00023863"	"30"	"87"	"0"	"87"	"0"	"c.87G>A"	"r.(?)"	"p.(Gly29=)"	""
"0000574293"	"00023863"	"30"	"544"	"0"	"544"	"0"	"c.544G>A"	"r.(?)"	"p.(Val182Met)"	""
"0000574294"	"00023863"	"30"	"813"	"0"	"813"	"0"	"c.813C>T"	"r.(?)"	"p.(Val271=)"	""
"0000574295"	"00023863"	"50"	"820"	"0"	"820"	"0"	"c.820G>A"	"r.(?)"	"p.(Val274Met)"	""
"0000574297"	"00023863"	"50"	"1016"	"9"	"1016"	"9"	"c.1016+9C>T"	"r.(=)"	"p.(=)"	""
"0000574298"	"00023863"	"50"	"1162"	"0"	"1162"	"0"	"c.1162G>A"	"r.(?)"	"p.(Ala388Thr)"	""
"0000574300"	"00023863"	"30"	"1162"	"0"	"1162"	"0"	"c.1162G>A"	"r.(?)"	"p.(Ala388Thr)"	""
"0000574301"	"00023863"	"30"	"1494"	"0"	"1494"	"0"	"c.1494C>T"	"r.(?)"	"p.(Tyr498=)"	""
"0000574302"	"00023863"	"30"	"1496"	"-8"	"1496"	"-8"	"c.1496-8C>T"	"r.(=)"	"p.(=)"	""
"0000574303"	"00023863"	"10"	"1496"	"-5"	"1496"	"-5"	"c.1496-5C>T"	"r.spl?"	"p.?"	""
"0000574304"	"00023863"	"30"	"1516"	"0"	"1516"	"0"	"c.1516G>A"	"r.(?)"	"p.(Asp506Asn)"	""
"0000574305"	"00023863"	"50"	"1602"	"0"	"1602"	"0"	"c.1602C>G"	"r.(?)"	"p.(Ile534Met)"	""
"0000574306"	"00023863"	"30"	"1649"	"0"	"1649"	"0"	"c.1649C>G"	"r.(?)"	"p.(Thr550Ser)"	""
"0000574307"	"00023863"	"30"	"1778"	"0"	"1778"	"0"	"c.1778A>G"	"r.(?)"	"p.(His593Arg)"	""
"0000574308"	"00023863"	"30"	"1831"	"0"	"1831"	"0"	"c.1831G>C"	"r.(?)"	"p.(Ala611Pro)"	""
"0000574309"	"00023863"	"30"	"1890"	"0"	"1890"	"0"	"c.1890G>C"	"r.(?)"	"p.(Val630=)"	""
"0000574310"	"00023863"	"30"	"7659"	"0"	"7659"	"0"	"c.*5751T>A"	"r.(=)"	"p.(=)"	""
"0000619160"	"00023863"	"30"	"510"	"0"	"510"	"0"	"c.510C>T"	"r.(?)"	"p.(Ala170=)"	""
"0000619161"	"00023863"	"90"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	""
"0000619162"	"00023863"	"30"	"1021"	"0"	"1021"	"0"	"c.1021G>A"	"r.(?)"	"p.(Ala341Thr)"	""
"0000619163"	"00023863"	"90"	"1145"	"0"	"1145"	"0"	"c.1145C>T"	"r.(?)"	"p.(Pro382Leu)"	""
"0000619164"	"00023863"	"30"	"1162"	"0"	"1162"	"0"	"c.1162G>A"	"r.(?)"	"p.(Ala388Thr)"	""
"0000619165"	"00023863"	"50"	"1853"	"0"	"1853"	"0"	"c.1853C>T"	"r.(?)"	"p.(Thr618Ile)"	""
"0000619166"	"00023863"	"50"	"7645"	"0"	"7645"	"0"	"c.*5737T>C"	"r.(=)"	"p.(=)"	""
"0000619167"	"00023863"	"30"	"7654"	"0"	"7654"	"0"	"c.*5746G>A"	"r.(=)"	"p.(=)"	""
"0000624483"	"00023863"	"30"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Arg206His)"	""
"0000624484"	"00023863"	"90"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Phe408del)"	""
"0000659146"	"00023863"	"30"	"87"	"0"	"87"	"0"	"c.87G>A"	"r.(?)"	"p.(Gly29=)"	""
"0000659147"	"00023863"	"30"	"1016"	"9"	"1016"	"9"	"c.1016+9C>T"	"r.(=)"	"p.(=)"	""
"0000659148"	"00023863"	"90"	"1171"	"0"	"1171"	"0"	"c.1171C>T"	"r.(?)"	"p.(Arg391Trp)"	""
"0000665269"	"00023863"	"77"	"1494"	"0"	"1494"	"0"	"c.1494C>G"	"r.(?)"	"p.(Tyr498*)"	"10"
"0000667192"	"00023863"	"90"	"1260"	"0"	"1281"	"0"	"c.1260_1281del"	"r.(?)"	"p.(Gly421Alafs*35)"	""
"0000682204"	"00023863"	"90"	"570"	"0"	"571"	"0"	"c.570_571del"	"r.(?)"	"p.(Ala191GlnfsTer10)"	""
"0000682205"	"00023863"	"30"	"975"	"0"	"975"	"0"	"c.975A>C"	"r.(?)"	"p.(Thr325=)"	""
"0000682206"	"00023863"	"30"	"1038"	"0"	"1038"	"0"	"c.1038C>T"	"r.(?)"	"p.(Leu346=)"	""
"0000682207"	"00023863"	"30"	"1512"	"0"	"1512"	"0"	"c.1512G>T"	"r.(?)"	"p.(Met504Ile)"	""
"0000693424"	"00023863"	"30"	"831"	"0"	"831"	"0"	"c.831G>A"	"r.(?)"	"p.(Val277=)"	""
"0000693425"	"00023863"	"30"	"1127"	"0"	"1127"	"0"	"c.1127A>G"	"r.(?)"	"p.(Lys376Arg)"	""
"0000698181"	"00023863"	"90"	"321"	"0"	"323"	"0"	"c.321_323del"	"r.(?)"	"p.(Phe107del)"	""
"0000698232"	"00023863"	"90"	"0"	"0"	"0"	"0"	"c.*1131_*1379{0}"	"r.(?)"	"p.(=)"	""
"0000698237"	"00023863"	"90"	"0"	"0"	"0"	"0"	"c.778-36_*1379{0}"	"r.?"	"p.?"	"4i_13_"
"0000728554"	"00023863"	"30"	"89"	"0"	"89"	"0"	"c.89C>T"	"r.(?)"	"p.(Ala30Val)"	""
"0000728555"	"00023863"	"30"	"306"	"0"	"306"	"0"	"c.306A>G"	"r.(?)"	"p.(Gly102=)"	""
"0000728556"	"00023863"	"50"	"420"	"0"	"420"	"0"	"c.420C>T"	"r.(?)"	"p.(Ile140=)"	""
"0000728557"	"00023863"	"30"	"777"	"4"	"777"	"4"	"c.777+4C>T"	"r.spl?"	"p.?"	""
"0000728558"	"00023863"	"50"	"820"	"0"	"820"	"0"	"c.820G>A"	"r.(?)"	"p.(Val274Met)"	""
"0000728559"	"00023863"	"90"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	""
"0000728560"	"00023863"	"50"	"1692"	"0"	"1692"	"0"	"c.1692C>G"	"r.(?)"	"p.(Phe564Leu)"	""
"0000810046"	"00023863"	"30"	"92"	"0"	"92"	"0"	"c.92C>T"	"r.(?)"	"p.(Pro31Leu)"	""
"0000810047"	"00023863"	"30"	"366"	"0"	"366"	"0"	"c.366T>C"	"r.(?)"	"p.(Asn122=)"	""
"0000810048"	"00023863"	"30"	"537"	"0"	"537"	"0"	"c.537C>T"	"r.(?)"	"p.(Pro179=)"	""
"0000810049"	"00023863"	"70"	"1495"	"1"	"1495"	"1"	"c.1495+1del"	"r.spl?"	"p.?"	""
"0000810050"	"00023863"	"30"	"1533"	"0"	"1533"	"0"	"c.1533C>T"	"r.(?)"	"p.(Ile511=)"	""
"0000810051"	"00023863"	"30"	"1662"	"0"	"1662"	"0"	"c.1662G>A"	"r.(?)"	"p.(Pro554=)"	""
"0000810052"	"00023863"	"30"	"1890"	"0"	"1890"	"0"	"c.1890G>C"	"r.(?)"	"p.(Val630=)"	""
"0000815871"	"00023863"	"70"	"1661"	"0"	"1661"	"0"	"c.1661C>T"	"r.(?)"	"p.(Pro554Leu)"	""
"0000867160"	"00023863"	"30"	"1767"	"8"	"1767"	"9"	"c.1767+8_1767+9insGC"	"r.(=)"	"p.(=)"	""
"0000904838"	"00023863"	"70"	"1340"	"0"	"1341"	"0"	"c.1340_1341del"	"r.(?)"	"p.(Val447Glyfs*17)"	""
"0000915625"	"00023863"	"30"	"92"	"0"	"92"	"0"	"c.92C>T"	"r.(?)"	"p.(Pro31Leu)"	""
"0000915626"	"00023863"	"30"	"1807"	"0"	"1807"	"0"	"c.1807C>T"	"r.(?)"	"p.(His603Tyr)"	""
"0000954343"	"00023863"	"90"	"645"	"-157"	"778"	"-79"	"c.645-157_778-79del"	"r.(645_777del)"	"p.?"	""
"0000970851"	"00023863"	"50"	"1241"	"0"	"1241"	"0"	"c.1241G>C"	"r.(?)"	"p.(Gly414Ala)"	""
"0000970854"	"00023863"	"50"	"1711"	"0"	"1711"	"0"	"c.1711T>C"	"r.(?)"	"p.(Cys571Arg)"	""
"0000984533"	"00023863"	"30"	"644"	"3"	"644"	"3"	"c.644+3G>A"	"r.spl?"	"p.?"	""
"0001006522"	"00023863"	"30"	"261"	"0"	"261"	"0"	"c.261A>G"	"r.(?)"	"p.(=)"	""
"0001006523"	"00023863"	"90"	"1465"	"0"	"1465"	"0"	"c.1465T>C"	"r.(?)"	"p.(Trp489Arg)"	""
"0001015994"	"00023863"	"30"	"1473"	"0"	"1473"	"0"	"c.1473C>T"	"r.(?)"	"p.(=)"	""
"0001015995"	"00023863"	"30"	"1692"	"0"	"1692"	"0"	"c.1692C>G"	"r.(?)"	"p.(Phe564Leu)"	""
"0001044182"	"00023863"	"50"	"1744"	"0"	"1744"	"0"	"c.1744A>G"	"r.(?)"	"p.(Arg582Gly)"	""
"0001047941"	"00023863"	"90"	"1006"	"0"	"1008"	"0"	"c.1006_1008del"	"r.(?)"	"p.(Asn336del)"	""
"0001059178"	"00023863"	"70"	"924"	"0"	"924"	"0"	"c.924T>A"	"r.(?)"	"p.(Asp308Glu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 334
"{{screeningid}}"	"{{variantid}}"
"0000037207"	"0000064332"
"0000037208"	"0000064333"
"0000037209"	"0000064334"
"0000037210"	"0000064335"
"0000037211"	"0000064336"
"0000037212"	"0000064337"
"0000037213"	"0000064338"
"0000037214"	"0000064339"
"0000037215"	"0000064340"
"0000037216"	"0000064341"
"0000037217"	"0000064342"
"0000037218"	"0000064343"
"0000165507"	"0000369173"
"0000184007"	"0000407945"
"0000184080"	"0000408049"
"0000184081"	"0000408050"
"0000184082"	"0000408051"
"0000184083"	"0000408052"
"0000184095"	"0000408064"
"0000186750"	"0000412888"
"0000186751"	"0000412889"
"0000186752"	"0000412890"
"0000186753"	"0000412891"
"0000186754"	"0000412892"
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