### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GK)
# 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}}"
"GK"	"glycerol kinase"	"X"	"p21.3"	"no"	"NG_008178.1"	"UD_132119145590"	""	"https://www.LOVD.nl/GK"	""	"1"	"4289"	"2710"	"300474"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/GK_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <a href=\"http://www.DMD.nl\" target=\"_blank\">Leiden Muscular Dystrophy pages</a></font>"	"-1"	""	"-1"	"00000"	"2009-10-01 00:00:00"	"00006"	"2019-12-30 12:52:25"	"00006"	"2025-01-24 16:48:57"


## 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}}"
"00024013"	"GK"	"transcript variant 4"	"001"	"NM_001205019.1"	""	"NP_001191948.1"	""	""	""	"-179"	"4400"	"1680"	"30671476"	"30749579"	"00006"	"2015-01-25 23:05:30"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02144"	"AHC"	"adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism)"	"XLR"	"300200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02239"	"GKD"	"deficiency, glycerol kinase (GKD)"	"XLR"	"307030"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05324"	"DMD"	"dystrophy, muscular, Duchenne type (DMD)"	"XLR"	"310200"	""	""	""	"00006"	"2017-09-01 17:41:21"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GK"	"02239"


## Individuals ## Do not remove or alter this header ##
## Count = 74
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00029663"	""	""	""	"1"	""	"00006"	"{PMID:Carrie 1999:10471494}"	""	"M"	""	""	""	"0"	""	""	""	""
"00034404"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034406"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}"	""	"M"	""	""	""	"0"	""	""	""	""
"00034407"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034408"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034409"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034410"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034411"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034412"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034413"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034414"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034415"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00034417"	""	""	""	"1"	""	"00006"	"{PMID:Piko 2009:19084397}"	"analysis 135 BMD/DMD cases"	"?"	""	"Hungary"	""	"0"	""	""	""	""
"00034418"	""	""	""	"1"	""	"00006"	"{PMID:Piko 2009:19084397}"	"analysis 135 BMD/DMD cases"	"?"	""	"Hungary"	""	"0"	""	""	""	""
"00034423"	""	""	""	"1"	""	"00006"	"L Medne ASHG 2010 A1669"	"younger brother of A1669Pat5"	"M"	""	""	""	"0"	""	""	""	""
"00049064"	""	""	"00034421"	"1"	""	"00006"	"{PMID:Romero 1997:9447607}, {UMD-DMD:450}"	"3-generation family; carrier mother"	"M"	"no"	"France"	""	"0"	""	""	""	""
"00112403"	""	""	""	"1"	""	"02152"	"{PMID:Guo 1995:7609262}"	""	""	""	""	""	"0"	""	""	""	""
"00122371"	""	""	""	"3"	""	"00006"	"{PMID:Jin 2000:10757639}, {PMID:Greener 2002:12107815}"	"2-generation family, 3 affected brothers (12y, 14y, 17y)"	"M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10757639-Fam4482"
"00210373"	""	""	""	"1"	""	"00006"	"{PMID:Walker 1996:8651297}, {OMIM300474:0001}"	""	"M"	""	"Belgium"	">7y"	"0"	""	""	""	"08651297.1"
"00210374"	""	""	""	"2"	""	"00006"	"{PMID:Walker 1996:8651297}, {OMIM300474:0002}"	"brother of 08651297.3, carrier morther"	"M"	""	"Sweden;Finland"	""	"0"	""	""	""	"08651297.2"
"00210375"	""	""	""	"1"	""	"00006"	"{PMID:Walker 1996:8651297}, {OMIM300474:0002}"	"brother of 08651297.2, carrier mother"	"M"	""	"Sweden;Finland"	""	"0"	""	""	""	"08651297.3"
"00210376"	""	""	""	"1"	""	"00006"	"{PMID:Walker 1996:8651297}, {OMIM300474:0003}"	"carrier mother"	"M"	""	"Yugoslavia"	""	"0"	""	""	""	"08651297.4"
"00210377"	""	""	""	"5"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0004}"	"3-generation family, 4 affecteds, 4 female carriers"	"M"	""	"Netherlands"	""	"0"	""	""	""	"09719371-1.III.1"
"00210378"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0004}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"09719371-1.III.3"
"00210379"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0004}"	"nephew of 09719371-1.III.1"	"M"	""	"Netherlands"	""	"0"	""	""	""	"09719371-1.III.4"
"00210380"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0004}"	"maternal grandfather 09719371-1.III.1"	"M"	""	"Netherlands"	">62y"	"0"	""	""	""	"09719371-1.I.1"
"00210381"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0005}"	"carrier mother"	"M"	""	"Netherlands"	">8y"	"0"	""	""	""	"09719371-2.II.3"
"00210382"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0006}"	"carrier mother"	"M"	""	"Indonesia"	">1y6m"	"0"	""	""	""	"09719371-3.II.3"
"00210383"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0006}"	"brother of 09719371-3.II.3, carrier mother"	"M"	""	"Indonesia"	">3y6m"	"0"	""	""	""	"09719371-3.II.2"
"00210384"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 1998:9719371}, {OMIM300474:0006}"	"half brother of 09719371-3.II.3, carrier mother"	"M"	""	"Indonesia"	">8y"	"0"	""	""	""	"09719371-3.II.1"
"00210385"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2000:10737976}, {PMID:Zhang 2006:16549535}, {OMIM300474:0007}"	""	"M"	""	"United States"	""	"0"	""	""	"African-American"	""
"00210386"	""	""	""	"29"	""	"00006"	"{PMID:Gaudet 2000:10736265}, {OMIM300474:0007}"	"5 families, 15 affecteds, 14female carriers"	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"10736265.all"
"00210387"	""	""	""	"1"	""	"00006"	"{PMID:Sargent 2000:10851254}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-Pt4"
"00210388"	""	""	""	"6"	""	"00006"	"{PMID:Sargent 2000:10851254}"	"3-generation family, 3 affecteds, 3 carrier females; asymptomatic grandfather (II.1) and great uncle (III.3)"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-Pt5"
"00210389"	""	""	""	"1"	""	"00006"	"{PMID:Sargent 2000:10851254}"	"asymptomatic"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-Pt3"
"00210390"	""	""	""	"1"	""	"00006"	"{PMID:Sargent 2000:10851254}"	"non-identical twin brother of 10851254-Fam1.Pt2"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-Fam1.Pt1"
"00210391"	""	""	""	"1"	""	"00006"	"{PMID:Sargent 2000:10851254}"	"asymptomatic non-identical twin brother of 10851254-Fam1.Pt1"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-Fam1.Pt2"
"00210392"	""	""	""	"1"	""	"00006"	"{PMID:Sargent 2000:10851254}"	"died after birth, carrier mother"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-Fam3.Pt6"
"00210393"	""	""	""	"4"	""	"00006"	"{PMID:Sargent 2000:10851254}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"10851254-con"
"00210394"	""	""	""	"1"	""	"00006"	"{PMID:Dipple 2001:11479736}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00210395"	""	""	""	"1"	""	"00006"	"{PMID:Dipple 2001:11479736}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00210396"	""	""	""	"1"	""	"00006"	"{PMID:Dipple 2001:11479736}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00210397"	""	""	""	"1"	""	"00006"	"{PMID:Dipple 2001:11479736}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00210398"	""	""	""	"1"	""	"00006"	"{PMID:Dipple 2001:11479736}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00210399"	""	""	""	"1"	""	"00006"	"{PMID:Dipple 2001:11479736}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00210400"	""	""	""	"1"	""	"00006"	"{PMID:Wibmer 2005:16025401}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"16025401-Pat1"
"00210401"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2003:12636049}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"12636049.Pat1"
"00210402"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2003:12636049}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"12636049.Pat2"
"00210403"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2003:12636049}"	""	"M"	""	"Italy"	">64y"	"0"	""	""	""	"12636049.Pat3"
"00210404"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2003:12636049}"	""	"M"	""	"Italy"	">11y"	"0"	""	""	""	"12636049.Pat4"
"00210405"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2003:12636049}"	"brother of 12636049.Pat6"	"M"	""	"Italy"	">61y"	"0"	""	""	""	"12636049.Pat5"
"00210406"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2003:12636049}"	"brother of 12636049.Pat5"	"M"	""	"Italy"	">58y"	"0"	""	""	""	"12636049.Pat6"
"00210407"	""	""	""	"2"	""	"00006"	"{PMID:Sjarif 2004:15026783}"	"carrier mother"	"M"	""	""	""	"0"	""	""	""	"15026783-Pat1"
"00210408"	""	""	""	"2"	""	"00006"	"{PMID:Sjarif 2004:15026783}"	"carrier mother"	"M"	""	""	""	"0"	""	""	""	"15026783-Pat2"
"00210409"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 2004:15026783}"	""	"M"	""	""	"5d"	"0"	""	""	""	"15026783-Pat3"
"00210410"	""	""	""	"1"	""	"00006"	"{PMID:Sjarif 2004:15026783}"	""	"M"	""	""	""	"0"	""	""	""	"15026783-Pat4"
"00210411"	""	""	""	"1"	""	"00006"	"{PMID:Hellerud 2004:15303806}"	""	"M"	""	"Sweden"	">31y"	"0"	""	""	""	"15303806-Pat1"
"00210412"	""	""	""	"6"	""	"00006"	"{PMID:Hellerud 2004:15303806}"	"3-generation family, 3 affecteds, 3 female carriers"	"M"	""	"Sweden"	""	"0"	""	""	""	"15303806-Pat2"
"00210413"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2006:16549535}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00210414"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2006:16549535}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00210415"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2006:16549535}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00210416"	""	""	""	"22"	""	"00006"	"{PMID:Tarpey 2009:19377476}"	""	""	""	""	">61y"	"0"	""	""	""	""
"00210417"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00239779"	""	""	""	"1"	""	"03315"	"{PMID:Loke 2009:19339795}, {PMID:Tomar 2019:31081998}"	""	"M"	"no"	"Singapore"	""	"0"	""	""	""	"patient/Case 45"
"00289039"	""	""	""	"1"	""	"00006"	"{PMID:Korkut 2016:27087023}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	"Case1"
"00289040"	""	""	""	"1"	""	"00006"	"{PMID:Korkut 2016:27087023}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	"case2"
"00289438"	""	""	""	"1"	""	"00006"	"{PMID:Heide 2015:25917374}"	""	"F"	""	"France"	""	"0"	""	""	""	"Pat1"
"00289439"	""	""	""	"1"	""	"00006"	"{PMID:Heide 2015:25917374}"	""	"F"	""	"France"	""	"0"	""	""	""	"Pat2"
"00428247"	""	""	""	"1"	""	"00006"	"{PMID:Tao 2022:36050749}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	""	"China"	"01y09m"	"0"	""	""	""	"patient"
"00437014"	""	""	""	"1"	""	"00006"	"{PMID:Pizza 2023:37091526}"	"2-generation family, 1 affected, unaffected carrier mother"	"M"	"no"	"Italy"	""	"0"	""	""	""	"patient"
"00437019"	""	""	""	"1"	""	"00006"	"{PMID:Jamroz 2010:20739824}"	""	"M"	""	"India"	""	"0"	""	""	""	"patient"
"00448785"	""	""	""	"3"	""	"00006"	"{PMID:Fu 2024:38419979}"	"2-generation family, affected mother/daughter/son"	"M"	""	"United States"	""	"0"	""	""	""	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 105
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00029663"	"00139"
"00029663"	"02144"
"00029663"	"02239"
"00034404"	"00187"
"00034404"	"02144"
"00034404"	"02239"
"00034406"	"00187"
"00034406"	"02144"
"00034406"	"02239"
"00034407"	"00187"
"00034407"	"02144"
"00034407"	"02239"
"00034408"	"00187"
"00034408"	"02144"
"00034408"	"02239"
"00034409"	"00187"
"00034409"	"02239"
"00034410"	"00187"
"00034410"	"02239"
"00034411"	"00187"
"00034411"	"02144"
"00034411"	"02239"
"00034412"	"00187"
"00034412"	"02144"
"00034412"	"02239"
"00034413"	"00187"
"00034413"	"02144"
"00034413"	"02239"
"00034414"	"00187"
"00034414"	"02144"
"00034414"	"02239"
"00034415"	"00187"
"00034415"	"02144"
"00034415"	"02239"
"00034417"	"00187"
"00034418"	"00187"
"00034418"	"02144"
"00034418"	"02239"
"00034423"	"02239"
"00049064"	"02239"
"00112403"	"02144"
"00122371"	"02144"
"00122371"	"02239"
"00122371"	"05324"
"00210373"	"02239"
"00210374"	"02239"
"00210375"	"02239"
"00210376"	"02239"
"00210377"	"02239"
"00210378"	"02239"
"00210379"	"02239"
"00210380"	"02239"
"00210381"	"02239"
"00210382"	"02239"
"00210383"	"02239"
"00210384"	"02239"
"00210385"	"02239"
"00210386"	"02239"
"00210387"	"02239"
"00210388"	"02239"
"00210389"	"02239"
"00210390"	"02239"
"00210391"	"00198"
"00210392"	"02239"
"00210393"	"00000"
"00210394"	"02239"
"00210395"	"00198"
"00210396"	"00198"
"00210397"	"02239"
"00210398"	"00198"
"00210399"	"00198"
"00210400"	"00198"
"00210401"	"02239"
"00210402"	"02239"
"00210403"	"02239"
"00210404"	"02239"
"00210405"	"02239"
"00210406"	"02239"
"00210407"	"02239"
"00210408"	"02239"
"00210409"	"02239"
"00210410"	"02239"
"00210411"	"02239"
"00210412"	"02239"
"00210413"	"00198"
"00210414"	"02239"
"00210415"	"00198"
"00210416"	"00187"
"00210417"	"00198"
"00239779"	"02144"
"00239779"	"02239"
"00239779"	"05324"
"00289039"	"00198"
"00289040"	"00198"
"00289438"	"00139"
"00289439"	"00139"
"00428247"	"05162"
"00437014"	"00139"
"00437014"	"02239"
"00437014"	"05324"
"00437019"	"02239"
"00437019"	"05324"
"00448785"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 01157, 02144, 02239, 05162, 05324
## Count = 110
"{{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}}"
"0000025681"	"02144"	"00029663"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025682"	"02239"	"00029663"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025683"	"00139"	"00029663"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028015"	"02239"	"00034410"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028016"	"00187"	"00034410"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028017"	"02239"	"00034409"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028018"	"00187"	"00034409"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028019"	"02144"	"00034408"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028020"	"02239"	"00034408"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028021"	"00187"	"00034408"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028022"	"02144"	"00034411"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028023"	"02239"	"00034411"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028024"	"00187"	"00034411"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028025"	"00187"	"00034412"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028026"	"02239"	"00034412"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028027"	"02144"	"00034412"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028028"	"02144"	"00034413"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028029"	"02239"	"00034413"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028030"	"00187"	"00034413"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028031"	"02144"	"00034414"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028032"	"02239"	"00034414"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028033"	"00187"	"00034414"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028034"	"02144"	"00034415"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028035"	"02239"	"00034415"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028036"	"00187"	"00034415"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028037"	"02144"	"00034404"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028038"	"02239"	"00034404"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028039"	"00187"	"00034404"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028040"	"02144"	"00034407"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028041"	"02239"	"00034407"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028042"	"00187"	"00034407"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000035808"	"02144"	"00034418"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000035809"	"02239"	"00034418"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000035810"	"00187"	"00034418"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000035811"	"00187"	"00034417"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000035812"	"02239"	"00034423"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000035821"	"02239"	"00049064"	"00006"	"Familial, X-linked recessive"	""	"large increase glycerol elimination urine"	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000087967"	"02144"	"00112403"	"02152"	"Unknown"	""	"phenotype inlcudes GKD; adrenal hypoplasia, congenital (OMIM300200);Glycerol kinase deficiency"	""	""	""	""	""	""	""	""	""	""	""	""
"0000092777"	"05320"	"00049064"	"00006"	"Familial, X-linked recessive"	""	"exercise-induced myalgia, recurrent pigmenturia, mild proximal muscle involvement, mild scapular winging, mild calf hypertrophy; CK level 1856-7820"	""	""	""	"excercise-induced fatigability, back pain, muscle cramps, recurrent myalgia, pigmenturia"	"IHC DMD-rod absent, N-/C- near normal"	""	""	""	""	"dystrophy, muscular, Becker type (BMD)"	"dystrophy, muscular, Becker type (BMD)"	""
"0000092791"	"05324"	"00034404"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092793"	"05324"	"00034406"	"00006"	"Unknown"	""	"intellectual disability (HP:0001249)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092794"	"05324"	"00034407"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092795"	"05324"	"00034408"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092796"	"05324"	"00034409"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092797"	"05324"	"00034410"	"00006"	"Unknown"	""	"intellectual disability (HP:0001249)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092798"	"05324"	"00034411"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092799"	"05324"	"00034412"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092800"	"05324"	"00034413"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092801"	"05324"	"00034414"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092802"	"05324"	"00034415"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092804"	"05324"	"00034417"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000092805"	"05324"	"00034418"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000094728"	"05324"	"00122371"	"00006"	"Familial, X-linked"	"17y"	"all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal\r\nhypoplasia; all  bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild\r\nmental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82\r\n(mean 72), eldest expected to perform\r\nsimilarly"	""	""	""	""	""	""	""	""	""	"BMD;GKD;AHC"	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000115950"	"05324"	"00034423"	"00006"	"Isolated (sporadic)"	"02y"	"hypotonia, developmental delay; FTT, raised lactate/transaminases; elevated serum CPK (HP:0003236) 18061"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, Duchenne type (DMD)"	"dystrophy, muscular, Duchenne type (DMD)"	""
"0000158938"	"02239"	"00210373"	"00006"	"Unknown"	""	"chronic pancreatis; glycerol serum 8.19mM, urine 210mM, leukocyte 0% GK"	"61y"	""	""	"refractory hypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158939"	"02239"	"00210374"	"00006"	"Unknown"	""	"retarded growth/psychomotor development, fractures, abnormal teeth, seizures; glycerol serum 4.5mM, urine 283mM, fibroblast 4% GK"	"2y"	""	""	""	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158940"	"02239"	"00210375"	"00006"	"Unknown"	""	"proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 30y); Brook scale 2; CPK 810; IQ70"	"3y"	""	""	""	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158941"	"02239"	"00210376"	"00006"	"Unknown"	""	"mental retardation; glycerol serum 8.6mM, urine 93.6mM, fibroblast 10% GK"	"7y"	""	""	"MR"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158942"	"02239"	"00210377"	"00006"	"Unknown"	""	"1w-metabolic acidosis; small gestational age, lethargy preceded by fever/vomiting/diarrhoea; 7m-mild convergent strabismus, right inguinal hernia; glycerol plasma 5.2mM, urine 48mM, fibroblast 0.1% glycerol incorporation"	"20m"	""	""	"gastrointestinal symptoms, ketoacidosis"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158943"	"02239"	"00210378"	"00006"	"Unknown"	""	"single episode hypoglycaemia (birht), small gestational age, birth weight 2450g, facial dysmorphism (square face, frontal bossing, low set mildly dysmorphic ears), hypoplastic right thumb cryptorchidism; glycerol plasma 6.4mM, urine 38mM, fibroblast 0.1% glycerol incorporation"	"1d"	""	""	"hypoglycaemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158944"	"02239"	"00210379"	"00006"	"Unknown"	""	"1.5y, birth weight 3450g, no hypoglycaemic episodes; glycerol plasma 4.8mM, urine 60mM, fibroblast 0.4% glycerol incorporation"	""	""	""	""	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158945"	"02239"	"00210380"	"00006"	"Unknown"	""	"62y healthy maternal grandfather, never experienced clinical episode of hypoglycaemia; glycerol plasma 5.5mM, urine 32mM, fibroblast 0.1% glycerol incorporation"	""	""	""	"none"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158946"	"02239"	"00210381"	"00006"	"Unknown"	""	"mild psychomotor retardation, attention deficit disorder; glycerol plasma 1.3mM, urine 47mM, fibroblast 0.2% glycerol incorporation"	"3y"	""	""	"vomiting, ketoacidosis"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158947"	"02239"	"00210382"	"00006"	"Unknown"	""	"delayed psychomotor development; glycerol plasma 3.6mM, urine 66mM, fibroblast 0.3% glycerol incorporation"	"10m"	""	""	"generalised seizures"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158948"	"02239"	"00210383"	"00006"	"Unknown"	""	"never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.4mM, urine 41mM, fibroblast 0.3% glycerol incorporation"	""	""	""	""	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158949"	"02239"	"00210384"	"00006"	"Unknown"	""	"never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.1mM, urine 24mM, fibroblast 0.3% glycerol incorporation"	""	""	""	""	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158950"	"02239"	"00210385"	"00006"	"Unknown"	""	"pseudo-hypertriglyceridemia, chronic alcoholic on hemodialysis for essential hypertension; fibroblast GK activity 32%"	"36y"	""	""	"pseudohypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158951"	"02239"	"00210386"	"00006"	"Unknown"	""	"glycerol males 4.0mM, carriers 0.54mM"	""	""	""	""	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158952"	"02239"	"00210387"	"00006"	"Unknown"	""	"biochemically confirmed GKD"	""	""	""	"fasting hypoglycaemic coma"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158953"	"02239"	"00210388"	"00006"	"Familial"	""	"plasma glycerol 4.6 mmol, fibroblast GK 12%"	""	""	""	"fasting hypoglycaemic coma"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158954"	"02239"	"00210389"	"00006"	"Unknown"	""	"biochemically confirmed GKD"	""	""	""	"fasting hypoglycaemic coma"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158955"	"02239"	"00210390"	"00006"	"Unknown"	""	"seizures; biochemically confirmed GKD"	""	""	""	"seizures"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158956"	"00198"	"00210391"	"00006"	"Unknown"	""	"no seizures; biochemically confirmed GKD"	""	""	""	""	""	""	""	""	""	""	"asymptomatic"	""
"0000158957"	"02239"	"00210392"	"00006"	"Unknown"	""	""	""	""	""	"neonatal seizures"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158958"	"00000"	"00210393"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000158959"	"02239"	"00210394"	"00006"	"Unknown"	""	"hypotonia, developmental delay; 14m-febrile seizure; fibroblast GK 5.55%"	"5d"	""	""	"glyceroluria"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158960"	"00198"	"00210395"	"00006"	"Unknown"	""	"hyperglycerolemia, glyceroluria, no seizures; 38y-myocardial infarction; fibroblast GK 5.53%"	"34y"	""	""	"pseudo-hypertrigylceridemia"	""	""	""	""	""	""	"asymptomatic"	""
"0000158961"	"00198"	"00210396"	"00006"	"Unknown"	""	"serum glycerol 6.2 mmol; normal growth, development, overweight, mildly hypertensive, hyperproteinuria (non-nephrotic range), normal renal function, borderline hyperglycemia, no seizures; fibroblast GK 5.81%"	"51y"	""	""	"hypertrigylceridemia"	""	""	""	""	""	""	"asymptomatic"	""
"0000158962"	"02239"	"00210397"	"00006"	"Unknown"	""	"3.5y-omiting, lethargy, hypoglycemiaand seizures, development mildly delayed, ketonuric and clinically asymptomatic; fibroblast GK 11.6% ; IQ84; walk-18m"	"2d"	""	""	"seizures"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158963"	"00198"	"00210398"	"00006"	"Unknown"	""	"urine massive glyceroluria, serum glycerol 32 mg/dl, computer tomography mild subarachnoid hemorrhage posterior falx (resolved after days, later clinically asymptomatic but has glyceroluria, normal growth and development, no seizures; fibroblast GK 12.7%"	"1d"	""	""	"neonatal asphyxia"	""	""	""	""	""	""	"asymptomatic"	""
"0000158964"	"00198"	"00210399"	"00006"	"Unknown"	""	"no seizures, pseudo-hypertriglyceridemia, elevated serum/urinary glycerol, asymptomatic GKD, normal growth and development, slight overweight, borderline high diastolic blood pressure; fibroblast GK 5.83%"	"34y"	""	""	"pre-operative laboratory tests"	""	""	""	""	""	""	"asymptomatic"	""
"0000158965"	"00198"	"00210400"	"00006"	"Unknown"	""	"pseudo-hypertriglyceridemia, asymptomatic GKD"	""	""	""	""	""	""	""	""	""	""	"asymptomatic"	""
"0000158966"	"02239"	"00210401"	"00006"	"Unknown"	""	"15d-persisten high TG; 4y-developmental dealy; glycerol serum 4.7mmol, urine 3730mmol, almost no GK activity; intellectual disability"	"<14d"	""	""	"failure to thrive, salt wating, convulsions"	""	""	""	""	""	"GKD;AHC;MR"	"glycerol kinase deficiency, adrenal hypoplasia; mental retardation"	""
"0000158967"	"02239"	"00210402"	"00006"	"Unknown"	""	"high urine glycerol; glycerol serum 2.5mmol, urine 1750mmol, slightly reduced GK activity"	"2y"	""	""	"seizures, developmental delay"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158968"	"02239"	"00210403"	"00006"	"Unknown"	""	"glycerol serum 5.9mmol, urine 5410mmol"	"64y"	""	""	"persistent hypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158969"	"02239"	"00210404"	"00006"	"Unknown"	""	"glycerol serum 6.5mmol, urine 6584mmol"	"11y"	""	""	"persistent hypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158970"	"02239"	"00210405"	"00006"	"Unknown"	""	"glycerol serum 6.1mmol, urine 6983mmol"	"61y"	""	""	"persistent hypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158971"	"02239"	"00210406"	"00006"	"Unknown"	""	"glycerol serum 4.3mmol, urine 1105mmol"	"58y"	""	""	"persistent hypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158972"	"02239"	"00210407"	"00006"	"Unknown"	""	"4.5y-mild asymmetric spasticity, convergent strabismus, myopia, mild facial dysmorphism, pseudohypertriglyceridemia; glycerol plasma 2.78mmol, urine 170mmol, GK activity 3%; mild intellectual disability"	"2y"	""	""	"episodic vomiting, dysmorphic, mild mental retardation, hyperactivity"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158973"	"02239"	"00210408"	"00006"	"Unknown"	""	"normal growth and development; glycerol plasma 4.1mmol, urine 58.2mmol, GK activity 22%"	"2y"	""	""	"ketoacidosis, somnolence after vomiting, altered consciousness during gastrointestinal episodes"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158974"	"02239"	"00210409"	"00006"	"Unknown"	""	"born 34w, birth weight 1950g, severe asphyxia, suspected AHX; 5d deceased of circulatory collapse; glycerol plasma 12mmol, urine 31mmol, GK activity 16%"	"1d"	""	""	"small, respiratory distress sysndrome, adrenal glands imbalance"	""	""	""	""	""	"GKD;AHC"	"glycerol kinase deficiency, adrenal hypoplasia"	""
"0000158975"	"02239"	"00210410"	"00006"	"Unknown"	""	"2-year-old boy was born 37w, birth weight 2760g, complicated pregnancy (premature rupture membrane), neonatal meningitis; glycerol plasma 0.08mmol, urine 6.9mmol, GK activity 85%"	"3y"	""	""	"delayed development, hypotonia, positive Gowerís sign, persistent unexplained microcytic anemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158976"	"02239"	"00210411"	"00006"	"Unknown"	""	"metabolic acidosis, recovered rapidly intravenous glucose therapy, did not tolerate physical exercise as well as friends, excessive physical activity elicited vomiting, hypoglycaemic symptoms, unconsciousness; glycerol serum 2.1-8.4mmol, urinary 43-280, fibroblast GK activity 1%"	"4y6m"	""	""	"pale, somnolent, hyperventilating, complaining severe abdominal pains"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158977"	"02239"	"00210412"	"00006"	"Unknown"	""	"born full term, birthweight 3730g, normal growth rate/mental development; glycerol serum 3.4-8.0mmol, urinary 128-390, fibroblast GK activity 3%"	"1y6m"	""	""	"seizures, unconscious"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158978"	"00198"	"00210413"	"00006"	"Unknown"	""	"pseudo-hypertriglyceridemia, asymptomatic GKD; GK activity 6.8%"	""	""	""	""	""	""	""	""	""	""	"asymptomatic"	""
"0000158979"	"02239"	"00210414"	"00006"	"Unknown"	""	"GK activity 8.3%"	"14d"	""	""	"hypertriglyceridemia"	""	""	""	""	""	"GKD"	"glycerol kinase deficiency"	""
"0000158980"	"00198"	"00210415"	"00006"	"Unknown"	""	"pseudo-hypertriglyceridemia, asymptomatic GKD; GK activity 5.3%"	"70y"	""	""	"pseudo-hypertriglyceridemia, asymptomatic GKD"	""	""	""	""	""	""	"asymptomatic"	""
"0000158981"	"00187"	"00210416"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation, X-linked (MRX)"	""
"0000158982"	"00198"	"00210417"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000179993"	"02144"	"00239779"	"00006"	"Unknown"	"16y"	"see paper; ..., Duchenne muscular dystrophy, glycerol kinase deficiency; 6y-central precocious puberty"	""	""	""	""	""	""	""	""	""	"DMD;AHC;GKD"	""	""
"0000222673"	"00198"	"00289039"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., 36d-difficulty to feed, vomiting, weight loss; similarly affected brother died at 7m"	""	""	""	""	""	""	""	""	""	"GKD, AHC, DMD"	""	""
"0000222674"	"00198"	"00289040"	"00006"	"Unknown"	""	"see paper; ..., 18d- reduced breastfeeding, vomiting, weight loss"	""	""	""	""	""	""	""	""	""	"GKD, AHC, DMD"	""	""
"0000223048"	"00139"	"00289438"	"00006"	"Isolated (sporadic)"	"07y"	"pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000223049"	"00139"	"00289439"	"00006"	"Unknown"	"16y"	"uneventful pregnancy; normal birth measurements; sit-10m, walk-18m; language delayed, 5y-first words; 11y-not able to read or write; 10y-muscular pains during physical exercises, initially on feet, extending to legs and hands, associated with severe muscular fatigue; no motor deficiency, morphology \'athletic\', global muscular hypertrophy; elevated CK (579 U/l, normal <160 U/l); no myoglobinuria, ECM myogenic pattern, muscle biopsy indicated non-specific histology; ECG and cardiac ultrasound normal; 16y-generalized epilepsy response to monotherapy; MRI brain normal; no dysmorphic features"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000319158"	"05162"	"00428247"	"00006"	"Familial, autosomal recessive"	"01y09m"	"see paper; ..., died 1y9m; global growth delay, persistent vomiting; hyperkalemia, hyponatremia, high level of creatine kinase, adrenal cortical hyperplasia"	""	""	"00y00m48d"	""	""	""	""	""	""	"DMD;GKD;AHC"	"global growth delay"	""
"0000326934"	"05324"	"00437014"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..., pregnancy complicated (threatened miscarriage first trimester, birth 38w-elective caesarean section, weight 3200 g (25-50th centile), length 51 cm (50-75th centile) , OFC 34.5 cm (50th centile), cyanosis, respiratory distress, delay acquisition physiological motor milestones; 7m-unable to hold his head/sit up unassisted; 10m-global developmental delay, high blood transaminases levels"	""	""	""	""	""	""	""	""	""	"DMD;GKD;ID"	""	""
"0000326939"	"05324"	"00437019"	"00006"	"Unknown"	"02y"	"see paper; ..., uncomplicated pregnancy, birth 39w, weight of 3050g, length 50cm, OFC 34cm; neonatal, weight loss, dehydration; 4m-failure to thrive, strabismus convergens, axial hypotonia, increased muscle tone extremities, normal deep tendon reflexes; elevated CK (10.818 U/L); distal hypertonia, intellectual disability; 22m-developmental delay, delayed motor skills"	""	""	""	""	""	""	""	""	""	"DMD;GKD"	""	""
"0000337961"	"00198"	"00448785"	"00006"	"Familial"	"02y"	"see paper; ..., global developmental delay, axial hypotonia, poor head control, inability to sit unassisted/walk, elevated triglycerides, abnormal accumulation glycerol; carrier mother/younger sister developmental delay"	""	""	""	""	""	""	""	""	""	"GKD"	"pseudo-hypertriglyceridemia"	""


## Screenings ## Do not remove or alter this header ##
## Count = 74
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000029706"	"00029663"	"1"	"00006"	"00006"	"2015-01-25 23:19:09"	""	""	"PCR"	"DNA"	""	""
"0000034471"	"00034404"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:43:46"	"PCR"	"DNA"	""	""
"0000034473"	"00034406"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:43:46"	"PCR"	"DNA"	""	""
"0000034474"	"00034407"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:43:46"	"PCR"	"DNA"	""	""
"0000034475"	"00034408"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:43:46"	"PCR"	"DNA"	""	""
"0000034476"	"00034409"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:43:46"	"PCR"	"DNA"	""	""
"0000034477"	"00034410"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:43:46"	"PCR"	"DNA"	""	""
"0000034478"	"00034411"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:25:16"	"PCR"	"DNA"	""	""
"0000034479"	"00034412"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:25:16"	"PCR"	"DNA"	""	""
"0000034480"	"00034413"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:25:16"	"PCR"	"DNA"	""	""
"0000034481"	"00034414"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:25:16"	"PCR"	"DNA"	""	""
"0000034482"	"00034415"	"1"	"00006"	"00006"	"2008-10-05 18:34:50"	"00006"	"2013-05-17 14:25:16"	"PCR"	"DNA"	""	""
"0000034484"	"00034417"	"1"	"00006"	"00006"	"2009-03-20 17:08:02"	"00006"	"2013-05-17 14:43:46"	"MLPA"	"DNA"	""	""
"0000034485"	"00034418"	"1"	"00006"	"00006"	"2009-03-20 17:08:02"	"00006"	"2013-05-17 14:43:46"	"MLPA"	"DNA"	""	""
"0000034490"	"00034423"	"1"	"00006"	"00006"	"2010-11-12 14:42:29"	"00006"	"2013-05-17 14:25:16"	"arrayCGH;arraySNP"	"DNA"	""	""
"0000048981"	"00049064"	"1"	"00006"	"00006"	"2015-09-06 16:39:49"	""	""	"SEQ"	"DNA"	""	""
"0000112861"	"00112403"	"1"	"02152"	"02152"	"2007-12-01 15:34:23"	"00006"	"2011-01-24 22:48:48"	"SEQ"	"DNA"	""	""
"0000122839"	"00122371"	"1"	"00006"	"00006"	"2002-07-01 12:00:00"	"00006"	"2017-11-30 16:09:56"	"PCR;RT-PCR;SEQ"	"DNA"	""	""
"0000211449"	"00210373"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"Southern;SEQ"	"DNA"	""	""
"0000211450"	"00210374"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"Southern;SEQ"	"DNA"	""	""
"0000211451"	"00210375"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"Southern;SEQ"	"DNA"	""	""
"0000211452"	"00210376"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"Southern;SEQ"	"DNA"	""	""
"0000211453"	"00210377"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR"	"DNA"	""	""
"0000211454"	"00210378"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR"	"DNA"	""	""
"0000211455"	"00210379"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR"	"DNA"	""	""
"0000211456"	"00210380"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR"	"DNA"	""	""
"0000211457"	"00210381"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000211458"	"00210382"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000211459"	"00210383"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000211460"	"00210384"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000211461"	"00210385"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211462"	"00210386"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211463"	"00210387"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211464"	"00210388"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211465"	"00210389"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"SSCA;SEQ"	"DNA"	""	""
"0000211466"	"00210390"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"SSCA;SEQ"	"DNA"	""	""
"0000211467"	"00210391"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"SSCA;SEQ"	"DNA"	""	""
"0000211468"	"00210392"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"SSCA;SEQ"	"DNA"	""	""
"0000211469"	"00210393"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2017-03-31 14:13:45"	"SSCA;SEQ"	"DNA"	""	""
"0000211470"	"00210394"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211471"	"00210395"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211472"	"00210396"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211473"	"00210397"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211474"	"00210398"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211475"	"00210399"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211476"	"00210400"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211477"	"00210401"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211478"	"00210402"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211479"	"00210403"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211480"	"00210404"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211481"	"00210405"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211482"	"00210406"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211483"	"00210407"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211484"	"00210408"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211485"	"00210409"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211486"	"00210410"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211487"	"00210411"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211488"	"00210412"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211489"	"00210413"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211490"	"00210414"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211491"	"00210415"	"1"	"00006"	"00006"	"2009-10-16 21:02:19"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211492"	"00210416"	"1"	"00006"	"00006"	"2009-04-08 14:01:02"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000211493"	"00210417"	"1"	"00430"	"00006"	"2012-10-22 13:48:58"	""	""	"SEQ"	"DNA"	""	""
"0000240882"	"00239779"	"1"	"00006"	"00006"	"2019-06-09 10:30:04"	""	""	"PCR"	"DNA"	""	""
"0000290208"	"00289039"	"1"	"00006"	"00006"	"2020-02-25 21:39:48"	""	""	"arrayCGH"	"DNA"	""	""
"0000290209"	"00289040"	"1"	"00006"	"00006"	"2020-02-25 21:52:07"	""	""	"arrayCGH"	"DNA"	""	""
"0000290607"	"00289438"	"1"	"00006"	"00006"	"2020-03-09 19:48:10"	""	""	"arrayCNV"	"DNA"	""	"Illumina CytoSNP12 microarray"
"0000290608"	"00289439"	"1"	"00006"	"00006"	"2020-03-09 20:41:35"	""	""	"arrayCNV"	"DNA"	""	"Illumina CytoSNP12 microarray"
"0000429658"	"00428247"	"1"	"00006"	"00006"	"2022-12-25 11:50:29"	""	""	"PCR"	"DNA"	""	""
"0000438497"	"00437014"	"1"	"00006"	"00006"	"2023-10-11 19:22:32"	""	""	"arrayCGH"	"DNA"	""	""
"0000438502"	"00437019"	"1"	"00006"	"00006"	"2023-10-11 21:43:33"	""	""	"PCR"	"DNA"	""	""
"0000450376"	"00448785"	"1"	"00006"	"00006"	"2024-04-17 09:31:33"	""	""	"arraySNP"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 118
"{{screeningid}}"	"{{geneid}}"
"0000029706"	"GK"
"0000029706"	"IL1RAPL1"
"0000029706"	"NR0B1"
"0000034471"	"DMD"
"0000034471"	"GK"
"0000034471"	"IL1RAPL1"
"0000034471"	"NR0B1"
"0000034473"	"DMD"
"0000034473"	"GK"
"0000034473"	"IL1RAPL1"
"0000034473"	"NR0B1"
"0000034474"	"DMD"
"0000034474"	"GK"
"0000034474"	"IL1RAPL1"
"0000034474"	"NR0B1"
"0000034475"	"DMD"
"0000034475"	"GK"
"0000034475"	"IL1RAPL1"
"0000034475"	"NR0B1"
"0000034476"	"DMD"
"0000034476"	"GK"
"0000034476"	"NR0B1"
"0000034477"	"DMD"
"0000034477"	"GK"
"0000034478"	"ARX"
"0000034478"	"DMD"
"0000034478"	"GK"
"0000034478"	"IL1RAPL1"
"0000034478"	"NR0B1"
"0000034479"	"DMD"
"0000034479"	"GK"
"0000034479"	"IL1RAPL1"
"0000034479"	"NR0B1"
"0000034480"	"DMD"
"0000034480"	"GK"
"0000034480"	"IL1RAPL1"
"0000034480"	"NR0B1"
"0000034481"	"DMD"
"0000034481"	"GK"
"0000034481"	"IL1RAPL1"
"0000034481"	"NR0B1"
"0000034482"	"DMD"
"0000034482"	"GK"
"0000034482"	"IL1RAPL1"
"0000034482"	"NR0B1"
"0000034484"	"DMD"
"0000034484"	"GK"
"0000034484"	"IL1RAPL1"
"0000034484"	"NR0B1"
"0000034485"	"DMD"
"0000034485"	"GK"
"0000034485"	"IL1RAPL1"
"0000034485"	"NR0B1"
"0000034490"	"DMD"
"0000034490"	"GK"
"0000048981"	"GK"
"0000112861"	"NR0B1"
"0000122839"	"DMD"
"0000122839"	"IL1RAPL1"
"0000211449"	"GK"
"0000211450"	"GK"
"0000211451"	"GK"
"0000211452"	"GK"
"0000211453"	"GK"
"0000211454"	"GK"
"0000211455"	"GK"
"0000211456"	"GK"
"0000211457"	"GK"
"0000211458"	"GK"
"0000211459"	"GK"
"0000211460"	"GK"
"0000211461"	"GK"
"0000211462"	"GK"
"0000211463"	"GK"
"0000211464"	"GK"
"0000211465"	"GK"
"0000211466"	"GK"
"0000211467"	"GK"
"0000211468"	"GK"
"0000211469"	"GK"
"0000211470"	"GK"
"0000211471"	"GK"
"0000211472"	"GK"
"0000211473"	"GK"
"0000211474"	"GK"
"0000211475"	"GK"
"0000211476"	"GK"
"0000211477"	"GK"
"0000211478"	"GK"
"0000211479"	"GK"
"0000211480"	"GK"
"0000211481"	"GK"
"0000211482"	"GK"
"0000211483"	"GK"
"0000211484"	"GK"
"0000211485"	"GK"
"0000211486"	"GK"
"0000211487"	"GK"
"0000211488"	"GK"
"0000211489"	"GK"
"0000211490"	"GK"
"0000211491"	"GK"
"0000211492"	"GK"
"0000211493"	"GK"
"0000240882"	"DMD"
"0000240882"	"GK"
"0000240882"	"NR0B1"
"0000290208"	"DMD"
"0000290208"	"GK"
"0000290208"	"IL1RAPL1"
"0000290208"	"NR0B1"
"0000290209"	"DMD"
"0000290607"	"DMD"
"0000290608"	"DMD"
"0000429658"	"DMD"
"0000429658"	"GK"
"0000429658"	"NR0B1"
"0000438502"	"DMD"


## 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 = 119
"{{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}}"
"0000001849"	"20"	"50"	"X"	"30718877"	"30718880"	"dup"	"0"	"00037"	"GK_010007"	"g.30718877_30718880dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30700760_30700763dup"	""	"VUS"	""
"0000002864"	"20"	"50"	"X"	"30718877"	"30718880"	"dup"	"0"	"00037"	"GK_010027"	"g.30718877_30718880dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30700760_30700763dup"	""	"VUS"	""
"0000006539"	"20"	"50"	"X"	"30686141"	"30686141"	"subst"	"0.0519518"	"00037"	"GK_010016"	"g.30686141G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30668024G>A"	""	"VUS"	""
"0000006540"	"20"	"50"	"X"	"30712796"	"30712796"	"subst"	"0"	"00037"	"GK_010020"	"g.30712796G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30694679G>C"	""	"VUS"	""
"0000006541"	"20"	"50"	"X"	"30714057"	"30714057"	"subst"	"0"	"00037"	"GK_010023"	"g.30714057C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30695940C>T"	""	"VUS"	""
"0000006542"	"20"	"50"	"X"	"30715827"	"30715827"	"subst"	"0.763295"	"00037"	"GK_010004"	"g.30715827C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30697710C>T"	""	"VUS"	""
"0000006543"	"20"	"50"	"X"	"30719356"	"30719356"	"subst"	"0"	"00037"	"GK_010009"	"g.30719356A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30701239A>G"	""	"VUS"	""
"0000006544"	"20"	"50"	"X"	"30736755"	"30736755"	"subst"	"0.0490239"	"00037"	"GK_010010"	"g.30736755G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30718638G>T"	""	"VUS"	""
"0000006545"	"20"	"50"	"X"	"30738878"	"30738878"	"subst"	"0.0528538"	"00037"	"GK_010013"	"g.30738878T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30720761T>C"	""	"VUS"	""
"0000006546"	"20"	"50"	"X"	"30747199"	"30747199"	"subst"	"0"	"00037"	"GK_010001"	"g.30747199C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30729082C>T"	""	"VUS"	""
"0000008599"	"20"	"50"	"X"	"30686141"	"30686141"	"subst"	"0.0519518"	"00037"	"GK_010016"	"g.30686141G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30668024G>A"	""	"VUS"	""
"0000008600"	"20"	"50"	"X"	"30695954"	"30695954"	"dup"	"0"	"00037"	"GK_010019"	"g.30695954dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30677837dup"	""	"VUS"	""
"0000008601"	"20"	"50"	"X"	"30712796"	"30712796"	"subst"	"0"	"00037"	"GK_010020"	"g.30712796G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30694679G>C"	""	"VUS"	""
"0000008602"	"20"	"50"	"X"	"30715827"	"30715827"	"subst"	"0.763295"	"00037"	"GK_010004"	"g.30715827C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30697710C>T"	""	"VUS"	""
"0000008603"	"20"	"50"	"X"	"30718877"	"30718880"	"dup"	"0"	"00037"	"GK_010007"	"g.30718877_30718880dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30700760_30700763dup"	""	"VUS"	""
"0000008604"	"20"	"50"	"X"	"30736755"	"30736755"	"subst"	"0.0490239"	"00037"	"GK_010010"	"g.30736755G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30718638G>T"	""	"VUS"	""
"0000008605"	"20"	"50"	"X"	"30738878"	"30738878"	"subst"	"0.0528538"	"00037"	"GK_010013"	"g.30738878T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30720761T>C"	""	"VUS"	""
"0000008606"	"20"	"50"	"X"	"30747199"	"30747199"	"subst"	"0"	"00037"	"GK_010001"	"g.30747199C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30729082C>T"	""	"VUS"	""
"0000010863"	"20"	"50"	"X"	"30718877"	"30718880"	"dup"	"0"	"00037"	"GK_010027"	"g.30718877_30718880dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30700760_30700763dup"	""	"VUS"	""
"0000014502"	"20"	"50"	"X"	"30671896"	"30671896"	"subst"	"0"	"00037"	"GK_010026"	"g.30671896G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30653779G>C"	""	"VUS"	""
"0000014505"	"20"	"50"	"X"	"30714057"	"30714057"	"subst"	"0"	"00037"	"GK_010023"	"g.30714057C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30695940C>T"	""	"VUS"	""
"0000014506"	"20"	"50"	"X"	"30715597"	"30715597"	"subst"	"0"	"00037"	"GK_010025"	"g.30715597T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.30697480T>C"	""	"VUS"	""
"0000053097"	"0"	"90"	"X"	"28771534"	"30746860"	""	"0"	"00006"	"GK_010028"	"g.(28606165_28771534)_(30746860_31140035)del"	""	"{PMID:Carrie 1999:10471494}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000061564"	"0"	"99"	"X"	"28600000"	"33229674"	""	"0"	"00006"	"DMD_040079"	"g.(25040000_28600000)_(33229673_?)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061566"	"0"	"99"	"X"	"31137345"	"33357726"	""	"0"	"00006"	"DMD_050080"	"g.(?_31137345)_(33357726_?)del"	""	"{PMID:Zhang 2004:15300857}"	""	""	"deletion incl. IL1RAPL1, NR0B1, GK"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_31119228)_(33339609_?)del"	""	"pathogenic (recessive)"	""
"0000061567"	"0"	"99"	"X"	"28600000"	"33229674"	""	"0"	"00006"	"DMD_040079"	"g.(25040000_28600000)_(33229673_?)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061568"	"0"	"99"	"X"	"29935580"	"33229674"	""	"0"	"00006"	"DMD_040080"	"g.(28606165_29935580)_(33229673_?)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061569"	"0"	"99"	"X"	"30322000"	"33229674"	""	"0"	"00006"	"DMD_040081"	"g.(30000000_30322000)_(33229673_?)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. NR0B1 (DAX1), GK, DMD"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061570"	"0"	"99"	"X"	"30670000"	"33229674"	""	"0"	"00006"	"DMD_040082"	"g.(30328000_30670000)_(33229673_?)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. GK and DMD"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061571"	"0"	"99"	"X"	"25020000"	"32235181"	""	"0"	"00006"	"DMD_003417"	"g.(?_25020000)_(32235181_32305645)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061572"	"0"	"99"	"X"	"31137345"	"31893491"	""	"0"	"00006"	"DMD_054880"	"g.(?_31137345)_(31893491_31947712)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD"	"Unknown"	"yes"	""	"0"	""	""	"g.(?_31119228)_(31875374_31929595)del"	""	"pathogenic (recessive)"	""
"0000061573"	"0"	"99"	"X"	"28807460"	"31645980"	"del"	"0"	"00006"	"DMD_040078"	"g.(25034000_28807460)_(31645980_31676106)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061574"	"0"	"99"	"X"	"28600000"	"31241239"	""	"0"	"00006"	"DMD_003416"	"g.(25040000_28600000)_(31241239_31279071)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061575"	"0"	"99"	"X"	"28600000"	"31241239"	""	"0"	"00006"	"DMD_003416"	"g.(25040000_28600000)_(31241239_31279071)del"	""	"{PMID:Zhang 2004:15300857}, {DOI:Zhang 2004:10.1002/humu.9269}"	""	""	"deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)"	"Unknown"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061578"	"1"	"99"	"X"	"28500000"	"33357726"	""	"0"	"00006"	"DMD_003415"	"g.(25000000_28500000)_(33357726_37000000)del"	""	"{PMID:Piko 2009:19084397}"	""	""	"ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted"	"Germline"	"-"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061579"	"1"	"99"	"X"	"28500000"	"33357726"	""	"0"	"00006"	"DMD_003415"	"g.(25000000_28500000)_(33357726_37000000)del"	""	"{PMID:Piko 2009:19084397}"	""	""	"ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000061584"	"21"	"99"	"X"	"30765000"	"31121918"	"del"	"0"	"00006"	"DMD_040261"	"g.(30700000_30765000)_(31121918_31465000)del"	""	"L Medne ASHG 2010 A1669"	""	""	"658 kb deletion incl. GKD_3\'DMD"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000077837"	"21"	"90"	"X"	"30719022"	"30719022"	"subst"	"0"	"00006"	"GK_010033"	"g.30719022C>T"	""	"{PMID:Romero 1997:09447607}"	""	"833C>T (Thr278Met)"	""	"Germline"	"yes"	""	"0"	""	""	"g.30700905C>T"	""	"pathogenic"	""
"0000181591"	"1"	"90"	"X"	"30322695"	"30746860"	""	"0"	"02152"	"NR0B1_000002"	"g.(?_30322695)_(30746860_?)del"	""	"{PMID:Guo 1995:7609262}"	""	""	"large deletion, incl. GKD gene"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000211691"	"1"	"90"	"X"	"29949219"	"31144301"	"del"	"0"	"00006"	"DMD_000533"	"g.29949219_31144301del"	""	"{PMID:Jin 2000:10757639}, {PMID:Greener 2002:12107815}, {GenBank:AF181286.1}"	""	""	"breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3\' sequence replacing ex79"	"Germline"	"yes"	""	"0"	""	""	"g.29931102_31126184del"	""	"pathogenic (recessive)"	""
"0000284643"	"0"	"90"	"X"	"30738207"	"30738207"	"subst"	"5.59904E-6"	"02326"	"GK_010039"	"g.30738207C>T"	""	""	""	"GK(NM_203391.3):c.1231C>T (p.R411*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30720090C>T"	""	"pathogenic"	""
"0000284644"	"0"	"50"	"X"	"30738213"	"30738213"	"subst"	"0"	"02326"	"GK_010040"	"g.30738213G>A"	""	""	""	"GK(NM_001205019.1):c.1236+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30720096G>A"	""	"VUS"	""
"0000284645"	"0"	"70"	"X"	"30719022"	"30719022"	"subst"	"0"	"02326"	"GK_010033"	"g.30719022C>T"	""	""	""	"GK(NM_000167.5):c.833C>T (p.T278M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30700905C>T"	""	"likely pathogenic"	""
"0000288373"	"0"	"30"	"X"	"30714267"	"30714267"	"subst"	"2.88867E-5"	"01943"	"GK_010034"	"g.30714267G>A"	""	""	""	"GK(NM_001205019.1):c.661G>A (p.E221K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30696150G>A"	""	"likely benign"	""
"0000288374"	"0"	"30"	"X"	"30718522"	"30718522"	"subst"	"0"	"01943"	"GK_010037"	"g.30718522T>C"	""	""	""	"GK(NM_001205019.1):c.748-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30700405T>C"	""	"likely benign"	""
"0000333573"	"0"	"50"	"X"	"30715864"	"30715864"	"subst"	"1.6786E-5"	"01804"	"GK_010036"	"g.30715864G>A"	""	""	""	"GK(NM_001205019.1):c.745G>A (p.(Val249Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30697747G>A"	""	"VUS"	""
"0000333574"	"0"	"30"	"X"	"30718526"	"30718526"	"subst"	"0.00316115"	"01804"	"GK_010038"	"g.30718526A>T"	""	""	""	"GK(NM_000167.5):c.730-5A>T (p.?), GK(NM_001205019.1):c.748-5A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30700409A>T"	""	"likely benign"	""
"0000442940"	"20"	"90"	"X"	"30714158"	"30714158"	"subst"	"0"	"00006"	"GK_000001"	"g.30714158G>C"	""	"{PMID:Walker 1996:08651297}, {OMIM300474:0001}"	""	"IVS6-1G>C"	"strongly reduced levels all 3 GK-transcricpts"	"Germline"	""	""	"0"	""	""	"g.30696041G>C"	""	"pathogenic (recessive)"	""
"0000442941"	"21"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000002"	"g.?"	""	"{PMID:Walker 1996:08651297}, {OMIM300474:0002}"	""	"del Ex17"	"5 Kb deletion; reduced GK-transcripts, extra 4.7Kb transcript"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442942"	"21"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000002"	"g.?"	""	"{PMID:Walker 1996:08651297}, {OMIM300474:0002}"	""	"del Ex17"	"5 Kb deletion; normal GK transcript levels, extra 4.7Kb transcript"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442943"	"21"	"90"	"X"	"30738838"	"30738838"	"subst"	"0"	"00006"	"GK_000003"	"g.30738838A>T"	""	"{PMID:Walker 1996:08651297}, {OMIM300474:0003}"	""	"D440V"	"reduced GK-transcripts; not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.30720721A>T"	""	"pathogenic (recessive)"	""
"0000442944"	"21"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000004"	"g.?"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0004}"	""	"del Ex9-end"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442945"	"21"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000004"	"g.?"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0004}"	""	"del Ex9-end"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442946"	"21"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000004"	"g.?"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0004}"	""	"del Ex9-end"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442947"	"20"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000004"	"g.?"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0004}"	""	"del Ex9-end"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442948"	"21"	"90"	"X"	"30738756"	"30738756"	"subst"	"0"	"00006"	"GK_000005"	"g.30738756C>T"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0005}"	"TaqI-"	"C1351T (R413X)"	""	"Germline"	""	""	"0"	""	""	"g.30720639C>T"	""	"pathogenic (recessive)"	""
"0000442949"	"21"	"90"	"X"	"30742241"	"30742241"	"subst"	"0"	"00006"	"GK_000006"	"g.30742241T>C"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0006}"	"NlaIII-"	"T1651C (W503R)"	"not in 100 control chromosomes"	"Germline"	""	"rs2893548"	"0"	""	""	"g.30724124T>C"	""	"pathogenic (recessive)"	""
"0000442950"	"21"	"90"	"X"	"30742241"	"30742241"	"subst"	"0"	"00006"	"GK_000006"	"g.30742241T>C"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0006}"	"NlaIII-"	"T1651C (W503R)"	"not in 100 control chromosomes"	"Germline"	""	"rs2893548"	"0"	""	""	"g.30724124T>C"	""	"pathogenic (recessive)"	""
"0000442951"	"21"	"90"	"X"	"30742241"	"30742241"	"subst"	"0"	"00006"	"GK_000006"	"g.30742241T>C"	""	"{PMID:Sjarif 1998:09719371}, {OMIM300474:0006}"	"NlaIII-"	"T1651C (W503R)"	"not in 100 control chromosomes"	"Germline"	""	"rs2893548"	"0"	""	""	"g.30724124T>C"	""	"pathogenic (recessive)"	""
"0000442952"	"1"	"70"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000007"	"g.?"	""	"{PMID:Zhang 2000:10737976}, {PMID:Zhang 2006:16549535}, {OMIM300474:0007}"	""	"IVS4-52ins316alu"	"insertion reverse AluY sequence (74bp T-tail); not in 167 control chromosomes;"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000442953"	"21"	"90"	"X"	"30725701"	"30725701"	"subst"	"0"	"00006"	"GK_000008"	"g.30725701A>G"	""	"{PMID:Gaudet 2000:10736265}, {OMIM300474:0007}"	""	"N288D"	"shared haplotype DXS8039-DXS997"	"Germline"	""	""	"0"	""	""	"g.30707584A>G"	""	"pathogenic (recessive)"	""
"0000442954"	"1"	"10"	"X"	"30686141"	"30686141"	"subst"	"0.0519518"	"00006"	"GK_000009"	"g.30686141G>A"	""	"{PMID:Gaudet 2000:10736265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.30668024G>A"	""	"benign"	""
"0000442955"	"1"	"10"	"X"	"30737558"	"30737558"	"subst"	"0"	"00006"	"GK_000010"	"g.30737558G>T"	""	"{PMID:Gaudet 2000:10736265}"	""	""	"Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000442956"	"20"	"90"	"X"	"30688489"	"30688489"	"subst"	"0"	"00006"	"GK_000012"	"g.30688489G>A"	""	"{PMID:Sargent 2000:10851254}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.30670372G>A"	""	"pathogenic (recessive)"	""
"0000442957"	"20"	"90"	"X"	"30718955"	"30718955"	"subst"	"0"	"00006"	"GK_000013"	"g.30718955T>C"	""	"{PMID:Sargent 2000:10851254}"	"TspRI-"	"766T>C (C256R)"	"not in 40 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30700838T>C"	""	"pathogenic (recessive)"	""
"0000442958"	"20"	"90"	"X"	"30726222"	"30726222"	"subst"	"0"	"00006"	"GK_000014"	"g.30726222A>T"	""	"{PMID:Sargent 2000:10851254}"	""	"1042T>A (R310X)"	""	"Germline"	""	""	"0"	""	""	"g.30708105A>T"	""	"pathogenic (recessive)"	""
"0000442959"	"20"	"90"	"X"	"30738201"	"30738201"	"subst"	"0"	"00006"	"GK_000015"	"g.30738201C>T"	""	"{PMID:Sargent 2000:10851254}"	""	"1207C>T (Q403X)"	""	"Germline"	""	""	"0"	""	""	"g.30720084C>T"	""	"pathogenic (recessive)"	""
"0000442960"	"20"	"90"	"X"	"30738201"	"30738201"	"subst"	"0"	"00006"	"GK_000015"	"g.30738201C>T"	""	"{PMID:Sargent 2000:10851254}"	""	"1207C>T (Q403X)"	""	"Germline"	""	""	"0"	""	""	"g.30720084C>T"	""	"pathogenic (recessive)"	""
"0000442961"	"21"	"10"	"X"	"30686141"	"30686141"	"subst"	"0.0519518"	"00006"	"GK_000009"	"g.30686141G>A"	""	"{PMID:Sargent 2000:10851254}"	"AvaII-"	""	""	"Germline"	""	""	"0"	""	""	"g.30668024G>A"	""	"benign"	""
"0000442962"	"21"	"10"	"X"	"30714817"	"30714817"	"subst"	"0"	"00006"	"GK_000030"	"g.30714817C>A"	""	"{PMID:Sargent 2000:10851254}"	""	"IVS8+17C>A"	""	"Germline"	""	""	"0"	""	""	"g.30696700C>A"	""	"benign"	""
"0000442963"	"21"	"10"	"X"	"30686141"	"30686141"	"subst"	"0.0519518"	"00006"	"GK_000009"	"g.30686141G>A"	"4/40"	"{PMID:Sargent 2000:10851254}"	"AvaII-"	""	""	"Germline"	""	""	"0"	""	""	"g.30668024G>A"	""	"benign"	""
"0000442964"	"20"	"90"	"X"	"30714199"	"30714199"	"subst"	"0"	"00006"	"GK_000017"	"g.30714199A>G"	""	"{PMID:Dipple 2001:11479736}"	""	"593A>G (D198G)"	"not in >100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30696082A>G"	""	"pathogenic (recessive)"	""
"0000442965"	"20"	"90"	"X"	"30725701"	"30725701"	"subst"	"0"	"00006"	"GK_000008"	"g.30725701A>G"	""	"{PMID:Dipple 2001:11479736}"	""	"862A>G (N288D)"	"not in >100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30707584A>G"	""	"pathogenic (recessive)"	""
"0000442966"	"20"	"90"	"X"	"30726208"	"30726208"	"subst"	"0"	"00006"	"GK_000018"	"g.30726208C>T"	""	"{PMID:Dipple 2001:11479736}"	""	"914C>T (A305V)"	"not in >100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30708091C>T"	""	"pathogenic (recessive)"	""
"0000442967"	"20"	"90"	"X"	"30738208"	"30738208"	"subst"	"0"	"00006"	"GK_000019"	"g.30738208G>A"	""	"{PMID:Dipple 2001:11479736}"	""	"1214G>A (R405Q)"	"not in >100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30720091G>A"	""	"pathogenic (recessive)"	""
"0000442968"	"20"	"90"	"X"	"30738802"	"30738802"	"subst"	"0"	"00006"	"GK_000020"	"g.30738802T>C"	""	"{PMID:Dipple 2001:11479736}"	""	"1283T>C (M428T)"	"not in >100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30720685T>C"	""	"pathogenic (recessive)"	""
"0000442969"	"20"	"90"	"X"	"30738832"	"30738832"	"subst"	"0"	"00006"	"GK_000021"	"g.30738832A>G"	""	"{PMID:Dipple 2001:11479736}"	""	"1313A>G (Q438R)"	"not in >100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30720715A>G"	""	"pathogenic (recessive)"	""
"0000442970"	"20"	"90"	"X"	"30725678"	"30725678"	"subst"	"0"	"00006"	"GK_000011"	"g.30725678G>C"	""	"{PMID:Wibmer 2005:16025401}"	""	"Gly280Ala"	""	"Germline"	""	""	"0"	""	""	"g.30707561G>C"	""	"pathogenic (recessive)"	""
"0000442971"	"20"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000022"	"g.?"	""	"{PMID:Hellerud 2003:12636049}"	""	""	"contiguous gene syndrome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442972"	"20"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000000"	"g.?"	""	"{PMID:Hellerud 2003:12636049}"	""	""	"carries GPD2:[791A>G];[791A>G] (His264Arg)"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442973"	"20"	"90"	"X"	"30695519"	"30695519"	"subst"	"0"	"00006"	"GK_000027"	"g.30695519C>T"	""	"{PMID:Hellerud 2003:12636049}"	""	""	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30677402C>T"	""	"pathogenic (recessive)"	""
"0000442974"	"20"	"90"	"X"	"30737572"	"30737572"	"subst"	"0"	"00006"	"GK_000023"	"g.30737572G>A"	""	"{PMID:Hellerud 2003:12636049}"	"Fnu4H-"	"1073G>A (C358Y)"	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30719455G>A"	""	"pathogenic (recessive)"	""
"0000442975"	"20"	"90"	"X"	"30725672"	"30725672"	"subst"	"0"	"00006"	"GK_000031"	"g.30725672G>A"	""	"{PMID:Hellerud 2003:12636049}"	""	"IVS9A-1G>A"	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30707555G>A"	""	"pathogenic (recessive)"	""
"0000442976"	"20"	"90"	"X"	"30725672"	"30725672"	"subst"	"0"	"00006"	"GK_000031"	"g.30725672G>A"	""	"{PMID:Hellerud 2003:12636049}"	""	"IVS9A-1G>A"	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30707555G>A"	""	"pathogenic (recessive)"	""
"0000442977"	"21"	"90"	"X"	"30738188"	"30738188"	"subst"	"0"	"00006"	"GK_000024"	"g.30738188A>C"	""	"{PMID:Sjarif 2004:15026783}"	""	"1194A>C (E398D)"	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30720071A>C"	""	"pathogenic (recessive)"	""
"0000442978"	"21"	"90"	"X"	"30686158"	"30686158"	"subst"	"0"	"00006"	"GK_000025"	"g.30686158T>C"	""	"{PMID:Sjarif 2004:15026783}"	""	""	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30668041T>C"	""	"pathogenic (recessive)"	""
"0000442979"	"20"	"90"	"X"	"30688489"	"30688489"	"subst"	"0"	"00006"	"GK_000012"	"g.30688489G>A"	""	"{PMID:Sjarif 2004:15026783}"	""	""	"not in100 normal chromosomes"	"Germline"	""	""	"0"	""	""	"g.30670372G>A"	""	"pathogenic (recessive)"	""
"0000442980"	"20"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000000"	"g.?"	""	"{PMID:Sjarif 2004:15026783}"	""	""	"unknown variant"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442981"	"20"	"90"	"X"	"0"	"0"	""	"0"	"00006"	"GK_000002"	"g.?"	""	"{PMID:Hellerud 2004:15303806}"	""	"del Ex17"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000442982"	"21"	"90"	"X"	"30714207"	"30714207"	"subst"	"0"	"00006"	"GK_000029"	"g.30714207A>G"	""	"{PMID:Hellerud 2004:15303806}"	""	"601A>G (D201N)"	""	"Germline"	""	""	"0"	""	""	"g.30696090A>G"	""	"pathogenic (recessive)"	""
"0000442983"	"20"	"90"	"X"	"30686236"	"30686236"	"subst"	"0"	"00006"	"GK_000026"	"g.30686236G>A"	""	"{PMID:Zhang 2006:16549535}"	""	"IVS3+1G>A"	"nonsense mediated mRNA decay"	"Germline"	""	""	"0"	""	""	"g.30668119G>A"	""	"pathogenic (recessive)"	""
"0000442984"	"20"	"90"	"X"	"30709239"	"30709239"	"subst"	"0"	"00006"	"GK_000028"	"g.30709239G>A"	""	"{PMID:Zhang 2006:16549535}"	""	"IVS4-1G>A"	"nonsense mediated mRNA decay"	"Germline"	""	""	"0"	""	""	"g.30691122G>A"	""	"pathogenic (recessive)"	""
"0000442985"	"20"	"90"	"X"	"30725716"	"30725716"	"subst"	"0"	"00006"	"GK_000032"	"g.30725716G>T"	""	"{PMID:Zhang 2006:16549535}"	""	"IVS10+1G>T"	"nonsense mediated mRNA decay"	"Germline"	""	""	"0"	""	""	"g.30707599G>T"	""	"pathogenic (recessive)"	""
"0000442986"	"1"	"30"	"X"	"30686141"	"30686141"	"subst"	"0.0519518"	"00006"	"GK_000009"	"g.30686141G>A"	""	"{PMID:Tarpey 2009:19377476}"	""	"Q55Q"	"recurrent, found 22 times; for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	"Germline"	""	""	"0"	""	""	"g.30668024G>A"	""	"likely benign"	""
"0000442987"	"0"	"10"	"X"	"30738878"	"30738878"	"subst"	"0.0528538"	"00430"	"GK_000034"	"g.30738878T>C"	""	"from website {DBsub-Emory}"	""	"NM_000167.5:c.1339+20T>C"	""	"Unknown"	""	""	"0"	""	""	"g.30720761T>C"	""	"benign"	""
"0000486557"	"0"	"90"	"X"	"31137345"	"32867938"	"del"	"0"	"03315"	"DMD_050380"	"g.(?_31137345)_(32867938_33038255)del"	""	"{PMID:Loke 2009:19339795}, {PMID:Tomar 2019:31081998}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_31119228)_(32849821_33020138)del"	""	"pathogenic (recessive)"	""
"0000575529"	"0"	"10"	"X"	"30687589"	"30687589"	"subst"	"0"	"02327"	"GK_010041"	"g.30687589G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30669472G>A"	""	"benign"	""
"0000575530"	"0"	"30"	"X"	"30709269"	"30709269"	"subst"	"1.69002E-5"	"01943"	"GK_010042"	"g.30709269G>A"	""	""	""	"GK(NM_001205019.1):c.367G>A (p.V123I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30691152G>A"	""	"likely benign"	""
"0000575532"	"0"	"10"	"X"	"30718526"	"30718526"	"subst"	"0.00316115"	"01943"	"GK_010038"	"g.30718526A>T"	""	""	""	"GK(NM_000167.5):c.730-5A>T (p.?), GK(NM_001205019.1):c.748-5A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30700409A>T"	""	"benign"	""
"0000575533"	"0"	"30"	"X"	"30726164"	"30726164"	"subst"	"0"	"01804"	"GK_010044"	"g.30726164C>T"	""	""	""	"GK(NM_000167.5):c.877-7C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30708047C>T"	""	"likely benign"	""
"0000575534"	"0"	"30"	"X"	"30745651"	"30745651"	"subst"	"0"	"01943"	"GK_010045"	"g.30745651G>A"	""	""	""	"GK(NM_001205019.1):c.1651G>A (p.G551R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30727534G>A"	""	"likely benign"	""
"0000619460"	"0"	"30"	"X"	"30725676"	"30725676"	"subst"	"5.70272E-6"	"01943"	"GK_010048"	"g.30725676T>C"	""	""	""	"GK(NM_001205019.1):c.855T>C (p.Y285=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30707559T>C"	""	"likely benign"	""
"0000646860"	"20"	"90"	"X"	"29935580"	"31366752"	"del"	"0"	"00006"	"DMD_066680"	"g.(29686622_29935580)_(31366752_31462597)del"	""	"{PMID:Korkut 2016:27087023}"	""	""	"deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD"	"Germline"	""	""	"0"	""	""	"g.(29668505_29917463)_(31348635_31444480)del"	""	"pathogenic (recessive)"	""
"0000646861"	"0"	"90"	"X"	"28500000"	"31986632"	"del"	"0"	"00006"	"DMD_066681"	"g.(28200000_28500000)_(31986632_32235032)del"	""	"{PMID:Korkut 2016:27087023}"	""	""	"3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(28180000_28480000)_(31968515_32216915)del"	""	"pathogenic (recessive)"	""
"0000647294"	"0"	"90"	"X"	"25878399"	"31987991"	"del"	"0"	"00006"	"DMD_066683"	"g.(25400000_25878399)_(31987991_32000000)del"	""	"{PMID:Heide 2015:25917374}"	""	"hg19 25878399_31987991del"	"6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD"	"De novo"	""	""	"0"	"X-inactivation CpG island 5\' CAG repeat AR gene 59%:41%"	""	""	""	"pathogenic (recessive)"	""
"0000647295"	"0"	"90"	"X"	"29008175"	"31496701"	"del"	"0"	"00006"	"DMD_066684"	"g.(28900000_29008175)_(31496701_31600000)del"	""	""	""	"hg19 29008175–31496701del"	"2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD"	"Germline/De novo (untested)"	""	""	"0"	"X-inactivation CpG island 5\' CAG repeat AR gene muscle 50:50, blood 63:37"	""	""	""	"pathogenic (recessive)"	""
"0000659260"	"0"	"70"	"X"	"30736735"	"30736735"	"subst"	"0"	"02327"	"GK_010049"	"g.30736735T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30718618T>C"	""	"likely pathogenic"	""
"0000682377"	"0"	"10"	"X"	"30688568"	"30688568"	"subst"	"0"	"02327"	"GK_010050"	"g.30688568G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000728813"	"0"	"30"	"X"	"30738985"	"30738985"	"subst"	"1.67997E-5"	"01943"	"GK_010051"	"g.30738985C>T"	""	""	""	"GK(NM_001205019.1):c.1374C>T (p.P458=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810283"	"0"	"50"	"X"	"30738789"	"30738789"	"subst"	"0"	"02329"	"GK_010052"	"g.30738789G>A"	""	""	""	"GK(NM_001205019.1):c.1288G>A (p.V430I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810284"	"0"	"30"	"X"	"30739028"	"30739028"	"subst"	"0"	"01943"	"GK_010053"	"g.30739028G>A"	""	""	""	"GK(NM_001205019.1):c.1417G>A (p.E473K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810285"	"0"	"50"	"X"	"30739049"	"30739049"	"subst"	"0"	"02325"	"GK_010054"	"g.30739049C>T"	""	""	""	"GK(NM_000167.6):c.1420C>T (p.L474F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867313"	"0"	"30"	"X"	"30709282"	"30709282"	"subst"	"0"	"01943"	"GK_010055"	"g.30709282G>T"	""	""	""	"GK(NM_001205019.1):c.380G>T (p.S127I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000909251"	"21"	"90"	"X"	"30322539"	"33357494"	"del"	"0"	"00006"	"DMD_010080"	"g.(?_30322539)_(33357494_?)del"	""	"{PMID:Tao 2022:36050749}"	""	""	"deletion incl. GK, NR0B1 and DMD gene"	"Germline"	""	""	"0"	""	""	"g.(?_30304422)_(33339377_?)del"	""	"pathogenic (recessive)"	""
"0000934121"	"21"	"90"	"X"	"30615032"	"34345109"	"del"	"0"	"00006"	"DMD_000533"	"g.(30500000_30615032)_(34345109_34400000)del"	""	"{PMID:Pizza 2023:37091526}"	""	"hg19:ChrX:30615032-34345109"	"contiguous gene syndrome (GKD, DMD, ID)"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000934127"	"0"	"90"	"X"	"30671476"	"33229673"	"del"	"0"	"00006"	"DMD_000533"	"g.(30322539_30671476)_(33229673_?)del"	""	"{PMID:Jamroz 2010:20739824}"	""	""	"deletion involves DMD (ex1-79), GKD (ex1-19) but not DAX1 (ex1-2)"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(30304422_30653359)_(33211556_?)del"	""	"pathogenic (recessive)"	""
"0000951735"	"0"	"50"	"X"	"30739047"	"30739047"	"subst"	"0"	"02325"	"GK_010056"	"g.30739047G>A"	""	""	""	"GK(NM_000167.6):c.1418G>A (p.S473N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000972351"	"21"	"90"	"X"	"29296579"	"33551038"	"del"	"0"	"00006"	"DMD_000533"	"g.(?_29296579)_(33551038_?)del"	""	"{PMID:Fu 2024:38419979}"	""	"del 29296579–33551038 (build not mentioned)"	"4.2 Mb deletion of Xp21.3p21.1 incl. GK, DMD, and NR0B1 genes, and multiple exons of IL1RAPL1"	"Germline"	""	""	"0"	""	""	"g.(?_29278462)_(33532921_?)del"	""	"pathogenic"	""
"0001016021"	"0"	"30"	"X"	"30671738"	"30671738"	"subst"	"0"	"02325"	"GK_010057"	"g.30671738C>G"	""	""	""	"GK(NM_000167.6):c.78+6C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GK
## Count = 119
"{{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}}"
"0000001849"	"00024013"	"00"	"784"	"-78"	"784"	"-75"	"c.784-78_784-75dup"	"r.(=)"	"p.(=)"	""
"0000002864"	"00024013"	"00"	"784"	"-78"	"784"	"-75"	"c.784-78_784-75dup"	"r.(=)"	"p.(=)"	""
"0000006539"	"00024013"	"00"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(=)"	"p.(=)"	""
"0000006540"	"00024013"	"00"	"552"	"142"	"552"	"142"	"c.552+142G>C"	"r.(=)"	"p.(=)"	""
"0000006541"	"00024013"	"00"	"553"	"-102"	"553"	"-102"	"c.553-102C>T"	"r.(=)"	"p.(=)"	""
"0000006542"	"00024013"	"00"	"730"	"-22"	"730"	"-22"	"c.730-22C>T"	"r.(=)"	"p.(=)"	""
"0000006543"	"00024013"	"00"	"851"	"334"	"851"	"334"	"c.851+334A>G"	"r.(=)"	"p.(=)"	""
"0000006544"	"00024013"	"00"	"1054"	"22"	"1054"	"22"	"c.1054+22G>T"	"r.(=)"	"p.(=)"	""
"0000006545"	"00024013"	"00"	"1357"	"20"	"1357"	"20"	"c.1357+20T>C"	"r.(=)"	"p.(=)"	""
"0000006546"	"00024013"	"00"	"2020"	"0"	"2020"	"0"	"c.*340C>T"	"r.(=)"	"p.(=)"	""
"0000008599"	"00024013"	"00"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(=)"	"p.(=)"	""
"0000008600"	"00024013"	"00"	"337"	"385"	"337"	"385"	"c.337+385dup"	"r.(=)"	"p.(=)"	""
"0000008601"	"00024013"	"00"	"552"	"142"	"552"	"142"	"c.552+142G>C"	"r.(=)"	"p.(=)"	""
"0000008602"	"00024013"	"00"	"730"	"-22"	"730"	"-22"	"c.730-22C>T"	"r.(=)"	"p.(=)"	""
"0000008603"	"00024013"	"00"	"784"	"-78"	"784"	"-75"	"c.784-78_784-75dup"	"r.(=)"	"p.(=)"	""
"0000008604"	"00024013"	"00"	"1054"	"22"	"1054"	"22"	"c.1054+22G>T"	"r.(=)"	"p.(=)"	""
"0000008605"	"00024013"	"00"	"1357"	"20"	"1357"	"20"	"c.1357+20T>C"	"r.(=)"	"p.(=)"	""
"0000008606"	"00024013"	"00"	"2020"	"0"	"2020"	"0"	"c.*340C>T"	"r.(=)"	"p.(=)"	""
"0000010863"	"00024013"	"00"	"784"	"-78"	"784"	"-75"	"c.784-78_784-75dup"	"r.(=)"	"p.(=)"	""
"0000014502"	"00024013"	"00"	"78"	"164"	"78"	"164"	"c.78+164G>C"	"r.(=)"	"p.(=)"	""
"0000014505"	"00024013"	"00"	"553"	"-102"	"553"	"-102"	"c.553-102C>T"	"r.(=)"	"p.(=)"	""
"0000014506"	"00024013"	"00"	"730"	"-252"	"730"	"-252"	"c.730-252T>C"	"r.(=)"	"p.(=)"	""
"0000053097"	"00024013"	"90"	"-1"	"0"	"1681"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000061564"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061566"	"00024013"	"90"	"-1"	"0"	"1681"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000061567"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061568"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061569"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061570"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061571"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061572"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061573"	"00024013"	"99"	"-1"	"0"	"1681"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000061574"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061575"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000061578"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000061579"	"00024013"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000061584"	"00024013"	"99"	"-1"	"0"	"1681"	"0"	"c.-179_*2720{0}"	"r.0?"	"p.0?"	"_1_21_"
"0000077837"	"00024013"	"90"	"851"	"0"	"851"	"0"	"c.851C>T"	"r.(spl?)"	"p.(Thr284Met)"	"11"
"0000181591"	"00024013"	"90"	"-1"	"0"	"1681"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000211691"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000284643"	"00024013"	"90"	"1231"	"0"	"1231"	"0"	"c.1231C>T"	"r.(?)"	"p.(Arg411Ter)"	""
"0000284644"	"00024013"	"50"	"1236"	"1"	"1236"	"1"	"c.1236+1G>A"	"r.spl?"	"p.?"	""
"0000284645"	"00024013"	"70"	"851"	"0"	"851"	"0"	"c.851C>T"	"r.(?)"	"p.(Thr284Met)"	""
"0000288373"	"00024013"	"30"	"661"	"0"	"661"	"0"	"c.661G>A"	"r.(?)"	"p.(Glu221Lys)"	""
"0000288374"	"00024013"	"30"	"748"	"-9"	"748"	"-9"	"c.748-9T>C"	"r.(=)"	"p.(=)"	""
"0000333573"	"00024013"	"50"	"745"	"0"	"745"	"0"	"c.745G>A"	"r.(?)"	"p.(Val249Met)"	""
"0000333574"	"00024013"	"30"	"748"	"-5"	"748"	"-5"	"c.748-5A>T"	"r.spl?"	"p.?"	""
"0000442940"	"00024013"	"90"	"553"	"-1"	"553"	"-1"	"c.553-1G>C"	"r.553_554del"	"p.Ser184Phefs*17"	"7"
"0000442941"	"00024013"	"90"	"1502"	"-1"	"1582"	"1"	"c.(1501+1_1502-1)_(1582+1_1583-1)del"	"r.1502_1582del"	"p.Ser502_Gly528del"	"18i"
"0000442942"	"00024013"	"90"	"1502"	"-1"	"1582"	"1"	"c.(1501+1_1502-1)_(1582+1_1583-1)del"	"r.1502_1582del"	"p.Ser502_Gly528del"	"18i"
"0000442943"	"00024013"	"90"	"1337"	"0"	"1337"	"0"	"c.1337A>T"	"r.1337a>u"	"p.Asp446Val"	"17"
"0000442944"	"00024013"	"90"	"852"	"-1"	"3546"	"0"	"c.(851+1_852-1)_(*1866_?)del"	"r.?"	"p.?"	"11i"
"0000442945"	"00024013"	"90"	"852"	"-1"	"3546"	"0"	"c.(851+1_852-1)_(*1866_?)del"	"r.?"	"p.?"	"11i"
"0000442946"	"00024013"	"90"	"852"	"-1"	"3546"	"0"	"c.(851+1_852-1)_(*1866_?)del"	"r.?"	"p.?"	"11i"
"0000442947"	"00024013"	"90"	"852"	"-1"	"3546"	"0"	"c.(851+1_852-1)_(*1866_?)del"	"r.?"	"p.?"	"11i"
"0000442948"	"00024013"	"90"	"1255"	"0"	"1255"	"0"	"c.1255C>T"	"r.(?)"	"p.(Arg419*)"	"17"
"0000442949"	"00024013"	"90"	"1525"	"0"	"1525"	"0"	"c.1525T>C"	"r.(?)"	"p.(Trp509Arg)"	"19"
"0000442950"	"00024013"	"90"	"1525"	"0"	"1525"	"0"	"c.1525T>C"	"r.(?)"	"p.(Trp509Arg)"	"19"
"0000442951"	"00024013"	"90"	"1525"	"0"	"1525"	"0"	"c.1525T>C"	"r.(?)"	"p.(Trp509Arg)"	"19"
"0000442952"	"00024013"	"70"	"338"	"-43"	"338"	"-42"	"c.338-43_338-42ins316; 338-52_338-43dup"	"r.[=, 338_414del]"	"p.[=, Trp114Glnfs*7]"	"4i"
"0000442953"	"00024013"	"90"	"880"	"0"	"880"	"0"	"c.880A>G"	"r.(?)"	"p.(Asn294Asp)"	"12"
"0000442954"	"00024013"	"10"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(?)"	"p.(=)"	"3"
"0000442955"	"00024013"	"10"	"1055"	"22"	"1055"	"22"	"c.1055+22G>T"	"r.(?)"	"p.(=)"	"14i"
"0000442956"	"00024013"	"90"	"259"	"2254"	"259"	"2254"	"c.259+2254G>A"	"r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467]"	"p.[Ala87Valfs*3, Trp52Tyrfs*24]"	"3i"
"0000442957"	"00024013"	"90"	"784"	"0"	"784"	"0"	"c.784T>C"	"r.784u>c"	"p.262CysArg"	"11"
"0000442958"	"00024013"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Arg316*)"	"13"
"0000442959"	"00024013"	"90"	"1225"	"0"	"1225"	"0"	"c.1225C>T"	"r.(?)"	"p.(Gln409*)"	"16"
"0000442960"	"00024013"	"90"	"1225"	"0"	"1225"	"0"	"c.1225C>T"	"r.(?)"	"p.(Gln409*)"	"16"
"0000442961"	"00024013"	"10"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(?)"	"p.(=)"	"3"
"0000442962"	"00024013"	"10"	"729"	"17"	"729"	"17"	"c.729+17C>A"	"r.(?)"	"p.(=)"	"8i"
"0000442963"	"00024013"	"10"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(?)"	"p.(=)"	"3"
"0000442964"	"00024013"	"90"	"593"	"0"	"593"	"0"	"c.593A>G"	"r.(?)"	"p.(Asp198Gly)"	"7"
"0000442965"	"00024013"	"90"	"880"	"0"	"880"	"0"	"c.880A>G"	"r.(?)"	"p.(Asn294Asp)"	"12"
"0000442966"	"00024013"	"90"	"932"	"0"	"932"	"0"	"c.932C>T"	"r.(?)"	"p.(Ala311Val)"	"13"
"0000442967"	"00024013"	"90"	"1232"	"0"	"1232"	"0"	"c.1232G>A"	"r.(?)"	"p.(Arg411Gln)"	"16"
"0000442968"	"00024013"	"90"	"1301"	"0"	"1301"	"0"	"c.1301T>C"	"r.(?)"	"p.(Met434Thr)"	"17"
"0000442969"	"00024013"	"90"	"1331"	"0"	"1331"	"0"	"c.1331A>G"	"r.(?)"	"p.(Gln444Arg)"	"17"
"0000442970"	"00024013"	"90"	"857"	"0"	"857"	"0"	"c.857G>C"	"r.(?)"	"p.(Gly286Ala)"	"12"
"0000442971"	"00024013"	"90"	"-179"	"0"	"3546"	"0"	"c.(?_-179)_(*1866_?)del"	"r.0"	"p.0"	"1_21"
"0000442972"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"1_21"
"0000442973"	"00024013"	"90"	"287"	"0"	"287"	"0"	"c.287C>T"	"r.(?)"	"p.(Thr96Ile)"	"4"
"0000442974"	"00024013"	"90"	"1091"	"0"	"1091"	"0"	"c.1091G>A"	"r.(?)"	"p.(Cys364Tyr)"	"15"
"0000442975"	"00024013"	"90"	"852"	"-1"	"852"	"-1"	"c.852-1G>A"	"r.spl"	"p.?"	"11i"
"0000442976"	"00024013"	"90"	"852"	"-1"	"852"	"-1"	"c.852-1G>A"	"r.spl"	"p.?"	"11i"
"0000442977"	"00024013"	"90"	"1212"	"0"	"1212"	"0"	"c.1212A>C"	"r.1212a>c"	"p.Glu404Asp"	"16"
"0000442978"	"00024013"	"90"	"182"	"0"	"182"	"0"	"c.182T>C"	"r.182u>c"	"p.Leu61Pro"	"3"
"0000442979"	"00024013"	"90"	"259"	"2254"	"259"	"2254"	"c.259+2254G>A"	"r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467]"	"p.[Ala87Valfs*3, Trp52Tyrfs*24]"	"3i"
"0000442980"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"1_21"
"0000442981"	"00024013"	"90"	"1502"	"-1"	"1582"	"1"	"c.(1501+1_1502-1)_(1582+1_1583-1)del"	"r.(?)"	"p.Ser502_Gly528del"	"18i"
"0000442982"	"00024013"	"90"	"601"	"0"	"601"	"0"	"c.601A>G"	"r.(?)"	"p.(Asn201Asp)"	"7"
"0000442983"	"00024013"	"90"	"259"	"1"	"259"	"1"	"c.259+1G>A"	"r.153_259del"	"p.Trp52Tyrfs*29"	"3i"
"0000442984"	"00024013"	"90"	"338"	"-1"	"338"	"-1"	"c.338-1G>A"	"r.338_414del"	"p.Trp114Glnfs*7"	"4i"
"0000442985"	"00024013"	"90"	"894"	"1"	"894"	"1"	"c.894+1G>T"	"r.852_894del"	"p.Tyr845Valfs*30"	"12i"
"0000442986"	"00024013"	"30"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(?)"	"p.(=)"	"3"
"0000442987"	"00024013"	"10"	"1357"	"20"	"1357"	"20"	"c.1357+20T>C"	"r.(=)"	"p.(=)"	"17i"
"0000486557"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_21_"
"0000575529"	"00024013"	"10"	"259"	"1354"	"259"	"1354"	"c.259+1354G>A"	"r.(=)"	"p.(=)"	""
"0000575530"	"00024013"	"30"	"367"	"0"	"367"	"0"	"c.367G>A"	"r.(?)"	"p.(Val123Ile)"	""
"0000575532"	"00024013"	"10"	"748"	"-5"	"748"	"-5"	"c.748-5A>T"	"r.spl?"	"p.?"	""
"0000575533"	"00024013"	"30"	"895"	"-7"	"895"	"-7"	"c.895-7C>T"	"r.(=)"	"p.(=)"	""
"0000575534"	"00024013"	"30"	"1651"	"0"	"1651"	"0"	"c.1651G>A"	"r.(?)"	"p.(Gly551Arg)"	""
"0000619460"	"00024013"	"30"	"855"	"0"	"855"	"0"	"c.855T>C"	"r.(?)"	"p.(Tyr285=)"	""
"0000646860"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000646861"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000647294"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000647295"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000659260"	"00024013"	"70"	"1054"	"2"	"1054"	"2"	"c.1054+2T>C"	"r.spl?"	"p.?"	""
"0000682377"	"00024013"	"10"	"259"	"2333"	"259"	"2333"	"c.259+2333G>T"	"r.(=)"	"p.(=)"	""
"0000728813"	"00024013"	"30"	"1374"	"0"	"1374"	"0"	"c.1374C>T"	"r.(?)"	"p.(Pro458=)"	""
"0000810283"	"00024013"	"50"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Val430Ile)"	""
"0000810284"	"00024013"	"30"	"1417"	"0"	"1417"	"0"	"c.1417G>A"	"r.(?)"	"p.(Glu473Lys)"	""
"0000810285"	"00024013"	"50"	"1438"	"0"	"1438"	"0"	"c.1438C>T"	"r.(?)"	"p.(Leu480Phe)"	""
"0000867313"	"00024013"	"30"	"380"	"0"	"380"	"0"	"c.380G>T"	"r.(?)"	"p.(Ser127Ile)"	""
"0000909251"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000934121"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000934127"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0000951735"	"00024013"	"50"	"1436"	"0"	"1436"	"0"	"c.1436G>A"	"r.(?)"	"p.(Ser479Asn)"	""
"0000972351"	"00024013"	"90"	"0"	"0"	"0"	"0"	"c.-179_*2720{0}"	"r.0"	"p.0"	"_1_21_"
"0001016021"	"00024013"	"30"	"78"	"6"	"78"	"6"	"c.78+6C>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 97
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000001849"
"0000000209"	"0000002864"
"0000000209"	"0000006539"
"0000000209"	"0000006540"
"0000000209"	"0000006541"
"0000000209"	"0000006542"
"0000000209"	"0000006543"
"0000000209"	"0000006544"
"0000000209"	"0000006545"
"0000000209"	"0000006546"
"0000000210"	"0000008599"
"0000000210"	"0000008600"
"0000000210"	"0000008601"
"0000000210"	"0000008602"
"0000000210"	"0000008603"
"0000000210"	"0000008604"
"0000000210"	"0000008605"
"0000000210"	"0000008606"
"0000000210"	"0000010863"
"0000000210"	"0000014502"
"0000000210"	"0000014505"
"0000000210"	"0000014506"
"0000029706"	"0000053097"
"0000034471"	"0000061564"
"0000034473"	"0000061566"
"0000034474"	"0000061567"
"0000034475"	"0000061568"
"0000034476"	"0000061569"
"0000034477"	"0000061570"
"0000034478"	"0000061571"
"0000034479"	"0000061572"
"0000034480"	"0000061573"
"0000034481"	"0000061574"
"0000034482"	"0000061575"
"0000034484"	"0000061578"
"0000034485"	"0000061579"
"0000034490"	"0000061584"
"0000048981"	"0000077837"
"0000112861"	"0000181591"
"0000122839"	"0000211691"
"0000211449"	"0000442940"
"0000211450"	"0000442941"
"0000211451"	"0000442942"
"0000211452"	"0000442943"
"0000211453"	"0000442944"
"0000211454"	"0000442945"
"0000211455"	"0000442946"
"0000211456"	"0000442947"
"0000211457"	"0000442948"
"0000211458"	"0000442949"
"0000211459"	"0000442950"
"0000211460"	"0000442951"
"0000211461"	"0000442952"
"0000211462"	"0000442953"
"0000211462"	"0000442954"
"0000211462"	"0000442955"
"0000211463"	"0000442956"
"0000211464"	"0000442957"
"0000211465"	"0000442958"
"0000211466"	"0000442959"
"0000211467"	"0000442960"
"0000211468"	"0000442961"
"0000211468"	"0000442962"
"0000211469"	"0000442963"
"0000211470"	"0000442964"
"0000211471"	"0000442965"
"0000211472"	"0000442966"
"0000211473"	"0000442967"
"0000211474"	"0000442968"
"0000211475"	"0000442969"
"0000211476"	"0000442970"
"0000211477"	"0000442971"
"0000211478"	"0000442972"
"0000211479"	"0000442973"
"0000211480"	"0000442974"
"0000211481"	"0000442975"
"0000211482"	"0000442976"
"0000211483"	"0000442977"
"0000211484"	"0000442978"
"0000211485"	"0000442979"
"0000211486"	"0000442980"
"0000211487"	"0000442981"
"0000211488"	"0000442982"
"0000211489"	"0000442983"
"0000211490"	"0000442984"
"0000211491"	"0000442985"
"0000211492"	"0000442986"
"0000211493"	"0000442987"
"0000240882"	"0000486557"
"0000290208"	"0000646860"
"0000290209"	"0000646861"
"0000290607"	"0000647294"
"0000290608"	"0000647295"
"0000429658"	"0000909251"
"0000438497"	"0000934121"
"0000438502"	"0000934127"
"0000450376"	"0000972351"