### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DHDDS)
# 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}}"
"DHDDS"	"dehydrodolichyl diphosphate synthase"	"1"	"p35.3"	"unknown"	"NG_029786.1"	"UD_134675243251"	""	"https://www.LOVD.nl/DHDDS"	""	"1"	"20603"	"79947"	"608172"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/DHDDS_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-13 00:00:00"	"00006"	"2021-03-03 09:53:28"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00006378"	"DHDDS"	"transcript variant 2"	"001"	"NM_024887.3"	""	"NP_079163.2"	""	""	""	"-150"	"3180"	"1005"	"26758773"	"26797797"	""	"0000-00-00 00:00:00"	""	""
"00025899"	"DHDDS"	"transcript variant 1"	"002"	"NM_205861.2"	""	"NP_995583.1"	""	""	""	"-150"	"3177"	"1002"	"26758773"	"26797797"	"00006"	"2024-01-25 15:56:41"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"03471"	"RP59;CDG1BB"	"retinitis pigmentosa, type 59 (RP59, glycosylation, congenital disorder of, type Ibb (CDG1BB))"	"AR"	"613861"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05904"	"DEDSM"	"developmental delay and seizures, with/without movement abnormalities (DEDSM)"	"AD"	"617836"	""	""	""	"00006"	"2021-03-03 09:54:40"	""	""
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"DHDDS"	"00112"
"DHDDS"	"03471"
"DHDDS"	"05904"


## Individuals ## Do not remove or alter this header ##
## Count = 80
"{{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}}"
"00155314"	""	""	""	"4"	""	"01243"	"{PMID:Sharon 2015:26261414}, {PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL0213"
"00155315"	""	""	""	"1"	""	"01243"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL1340"
"00231881"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231882"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231883"	""	""	""	"5"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231884"	""	""	""	"480"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231885"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231886"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231887"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233592"	""	""	""	"667"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00309722"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL1167"
"00309723"	""	""	""	"12"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	"12 families"	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00309724"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL1230"
"00309749"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}"	""	""	""	"Russia"	""	"0"	""	""	"Jewish;Europe-E"	"Pat121-544"
"00309750"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}"	""	""	""	"Russia"	""	"0"	""	""	"Jewish"	"Pat121-217"
"00309751"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}"	""	""	""	"Russia"	""	"0"	""	""	"Jewish"	"Pat121-463"
"00309752"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}"	""	""	""	"Romania;Russia"	""	"0"	""	""	"Jewish"	"Pat003-110"
"00309753"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}"	""	""	""	"Russia"	""	"0"	""	""	"Jewish"	"Pat003-015"
"00309759"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1167"
"00309760"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0972"
"00309761"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1044"
"00309762"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1050"
"00309763"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1081"
"00309764"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1101"
"00309765"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1287"
"00309766"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1290"
"00309767"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1358"
"00309768"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1366"
"00309769"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1445"
"00333823"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"19"
"00333900"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"267"
"00334875"	""	""	""	"1"	""	"03286"	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"PME3"
"00334877"	""	""	""	"1"	""	"03286"	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"F"	"no"	"Italy"	""	"0"	""	""	""	"PME71"
"00334878"	""	""	""	"1"	""	"03286"	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"F"	"no"	"Italy"	""	"0"	""	""	""	"PME27"
"00335459"	""	""	""	"1"	""	"00000"	"{PMID:Biswas 2017:28130426}"	""	""	""	"United States"	""	"0"	""	""	"Jewish-Ashkenazi"	"RF.TE.0512"
"00335460"	""	""	""	"1"	""	"00000"	"{PMID:Biswas 2017:28130426}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"RF.AA.1104"
"00335461"	""	""	""	"1"	""	"00000"	"{PMID:Biswas 2017:28130426}"	""	""	""	"United States"	""	"0"	""	""	"Jewish-Ashkenazi"	"RF.PO.1109"
"00358802"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"Germany"	""	"0"	""	""	""	"176266"
"00372663"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP338"
"00376759"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"19"
"00376785"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"52"
"00383816"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383817"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383818"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383819"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00386655"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-217"
"00386666"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"121-544"
"00387037"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"63"
"00387038"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"64"
"00387508"	""	""	""	"1"	""	"00000"	"{PMID:Matsui 2015:26393467}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00388540"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.001"
"00409234"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD0262"
"00409235"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD0262-1"
"00409236"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD0677"
"00409237"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD3323"
"00409238"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD3458"
"00409239"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD4047"
"00409240"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"CHRD5151"
"00409241"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0397-1"
"00409242"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0400-1"
"00409243"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0565-1 (II:2)"
"00409244"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0565-2 (II:3)"
"00409245"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0718-1"
"00409246"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0735-1 (II:2)"
"00409247"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0779-1 (II:1)"
"00409248"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0779-2 (II:2)"
"00409249"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0884-1 (II:1)"
"00409250"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"F"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0884-2 (II:2)"
"00409251"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0884-4 (II:4)"
"00409252"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"TB31/R54 (II:1)"
"00409253"	""	""	""	"1"	""	"00000"	"{PMID:Zelinger 2011:21295282}"	""	"M"	"likely"	""	""	"0"	""	""	"Ashkenazi Jewish"	"TB61/R226"
"00409255"	""	""	""	"1"	""	"00000"	"{PMID:Zuchner 2011:21295283}"	""	"?"	""	""	""	"0"	""	""	"Ashkenazi Jewish"	"II:1"
"00409256"	""	""	""	"1"	""	"00000"	"{PMID:Zuchner 2011:21295283}"	""	"?"	""	""	""	"0"	""	""	"Ashkenazi Jewish"	"II:2"
"00409257"	""	""	""	"1"	""	"00000"	"{PMID:Zuchner 2011:21295283}"	""	"?"	""	""	""	"0"	""	""	"Ashkenazi Jewish"	"II:4"
"00409271"	""	""	""	"1"	""	"00000"	"{PMID:Sabry 2016:27343064}"	""	"M"	"no"	""	"00y08m"	"0"	""	""	""	"?"
"00438707"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSJ0762"
"00438755"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	""	"F"	""	"United States"	""	"0"	""	""	""	"indvSG"
"00438756"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	""	"F"	""	"United States"	""	"0"	""	""	""	"indvEF"
"00438757"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"MDB31882"
"00438758"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"indvNCJ"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 80
"{{individualid}}"	"{{diseaseid}}"
"00155314"	"04214"
"00155315"	"04214"
"00231881"	"04214"
"00231882"	"04214"
"00231883"	"04214"
"00231884"	"04214"
"00231885"	"04214"
"00231886"	"04214"
"00231887"	"04214"
"00233592"	"04214"
"00309722"	"04214"
"00309723"	"04214"
"00309724"	"04214"
"00309749"	"04214"
"00309750"	"04214"
"00309751"	"04214"
"00309752"	"04214"
"00309753"	"04214"
"00309759"	"04214"
"00309760"	"04214"
"00309761"	"04214"
"00309762"	"04214"
"00309763"	"04214"
"00309764"	"04214"
"00309765"	"04214"
"00309766"	"04214"
"00309767"	"04214"
"00309768"	"04214"
"00309769"	"04214"
"00333823"	"04214"
"00333900"	"04214"
"00334875"	"05162"
"00334877"	"05162"
"00334878"	"05162"
"00335459"	"04214"
"00335460"	"04214"
"00335461"	"04214"
"00358802"	"05904"
"00372663"	"04214"
"00376759"	"04214"
"00376785"	"04214"
"00383816"	"04214"
"00383817"	"04214"
"00383818"	"04214"
"00383819"	"04214"
"00386655"	"04214"
"00386666"	"04214"
"00387037"	"04214"
"00387038"	"04214"
"00387508"	"04214"
"00388540"	"04214"
"00409234"	"04214"
"00409235"	"04214"
"00409236"	"04214"
"00409237"	"04214"
"00409238"	"04214"
"00409239"	"04214"
"00409240"	"04214"
"00409241"	"04214"
"00409242"	"04214"
"00409243"	"04214"
"00409244"	"04214"
"00409245"	"04214"
"00409246"	"04214"
"00409247"	"04214"
"00409248"	"04214"
"00409249"	"04214"
"00409250"	"04214"
"00409251"	"04214"
"00409252"	"04214"
"00409253"	"04214"
"00409255"	"04214"
"00409256"	"04214"
"00409257"	"04214"
"00409271"	"03471"
"00438707"	"06906"
"00438755"	"06906"
"00438756"	"06906"
"00438757"	"06906"
"00438758"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 03471, 04214, 05162, 05904, 06906
## Count = 73
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000127814"	"04214"	"00155314"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000127815"	"04214"	"00155315"	"01243"	"Familial, autosomal recessive"	""	"...details..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235035"	"04214"	"00309722"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235036"	"04214"	"00309723"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235037"	"04214"	"00309724"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235058"	"04214"	"00309749"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235059"	"04214"	"00309750"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235060"	"04214"	"00309751"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235061"	"04214"	"00309752"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235062"	"04214"	"00309753"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235069"	"04214"	"00309759"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235070"	"04214"	"00309760"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235071"	"04214"	"00309761"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235072"	"04214"	"00309762"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235073"	"04214"	"00309763"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235074"	"04214"	"00309764"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235075"	"04214"	"00309765"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235076"	"04214"	"00309766"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235077"	"04214"	"00309767"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235078"	"04214"	"00309768"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000235079"	"04214"	"00309769"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000252008"	"04214"	"00333823"	"00000"	"Familial, autosomal recessive"	"26y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000252085"	"04214"	"00333900"	"00000"	"Familial, autosomal recessive"	"56y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000252759"	"05162"	"00334875"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	"DEDSM"	""
"0000252760"	"05162"	"00334877"	"03286"	"Isolated (sporadic)"	""	"Onset in late infancy of ataxia (mild and non-progressive), then TCS from age 17 and mild action myoclonus noted age 29. Mild learning difficulties in childhood, normal cognition. MRI: mild cerebral, cerebellar and brainstem atrophy."	""	""	""	""	""	""	""	"DEDSM"	"Unverricht-Lundborg disease like"
"0000253404"	"04214"	"00335459"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinal degeneration"
"0000253405"	"04214"	"00335460"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinal degeneration"
"0000253406"	"04214"	"00335461"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinal degeneration"
"0000254017"	"05904"	"00358802"	"01164"	"Unknown"	""	"(+) Seizure,(+) Intellectual disability, mild,(+) Gait ataxia,(+) Generalized-onset seizure / Epilepsy since the 13th month, with generalised tonic-clonic seizures, generalised frequent or continuous myoclonias, proged ataxia, reduced intelligence, psychotic episodes."	""	""	""	""	""	""	""	""	"13mo"
"0000257419"	"05162"	"00334878"	"00006"	"Isolated (sporadic)"	""	"Onset age 21 of tremor, daily myoclonus from 35 years of age, slowly progressive ataxia from 37 years of age. Single TCS. Normal developmental history, normal cognition. Multiple co-morbidities including bilateral deafness, cataracts, retinal dystrophy, dolicocolon, atonic bladder, hashimoto\'s thyroiditis, polycystic kidney disease. MRI: cerebellar atrophy."	""	""	""	""	""	""	""	""	"late onset progressive myoclonus epilepsy"
"0000257420"	"05162"	"00334875"	"00006"	"Isolated (sporadic)"	""	"Onset age 7 slowly progressive myoclonus, ataxia on a background of developmental delay. Absence with eyelid myoclonia from age 9. No TCS. Moderate cognitive impairment."	""	""	""	""	""	""	""	""	"progressive myoclonus epilepsy , developmental delay"
"0000267942"	"04214"	"00372663"	"00000"	"Familial, autosomal recessive"	"26y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000271970"	"04214"	"00376759"	"00000"	"Familial, autosomal recessive"	"68y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000271996"	"04214"	"00376785"	"00000"	"Familial, X-linked"	"18y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000277601"	"04214"	"00383816"	"00000"	"Familial, autosomal recessive"	"22y"	"BCVA OD-OS: 20/20-20/20"	""	"20y"	""	""	""	""	""	""	""
"0000277602"	"04214"	"00383817"	"00000"	"Familial, autosomal recessive"	"24y"	"BCVA OD-OS: 20/30-20/40"	""	"21y"	""	""	""	""	""	""	""
"0000277603"	"04214"	"00383818"	"00000"	"Familial, autosomal recessive"	"25y"	"BCVA OD-OS: 20/40-20/50"	""	"22y"	""	""	""	""	""	""	""
"0000277604"	"04214"	"00383819"	"00000"	"Familial, autosomal recessive"	"54y"	"BCVA OD-OS: 20/60-20/100"	""	"17y"	""	""	""	""	""	""	""
"0000280455"	"04214"	"00386655"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000280466"	"04214"	"00386666"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000280815"	"04214"	"00387037"	"00000"	"Familial, autosomal recessive"	"32y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""
"0000280816"	"04214"	"00387038"	"00000"	"Familial, autosomal recessive"	"40y"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""
"0000281071"	"04214"	"00387508"	"00000"	"Unknown"	""	""	"31y"	""	""	""	""	""	""	""	"Pericentral Retinal Degeneration (PRD) simplex"
"0000282080"	"04214"	"00388540"	"00000"	"Familial, autosomal recessive"	""	"Non‐syndrom"	""	"61y"	""	""	""	""	""	"Retinitis pigmentosa type 59"	"Retinitis pigmentosa"
"0000301351"	"04214"	"00409234"	"00000"	"Familial, autosomal recessive"	"56y"	"56y: refraction (diopters): plano / plano, best corrected visual acuity right/left eye: 0.20 / 0.20; cone flicker electroretinogram responses (uV): 04/04, rod electroretinogram responses (b-wave, uV): not detectable / not detectable"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301352"	"04214"	"00409235"	"00000"	"Familial, autosomal recessive"	"51y"	"51y: refraction (diopters): -3.25, best corrected visual acuity right/left eye: 0.10 / 0.10; cone flicker electroretinogram responses (uV): 06/06, rod electroretinogram responses (b-wave, uV): 20 / 20"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301353"	"04214"	"00409236"	"00000"	"Familial, autosomal recessive"	"33y"	"33y: refraction (diopters): plano, best corrected visual acuity right/left eye: 1.00 / 1.50; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 39y: refraction (diopters): plano, best corrected visual acuity right/left eye: 1.60 / light perception"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301354"	"04214"	"00409237"	"00000"	"Familial, autosomal recessive"	"46y"	"35y: refraction (diopters): +0.75, best corrected visual acuity right/left eye: 0.70 hand motion; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 40y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 / light perception; 46y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: hand motion / light perception"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301355"	"04214"	"00409238"	"00000"	"Familial, autosomal recessive"	"28y"	"28y: refraction (diopters): plano, best corrected visual acuity right/left eye: 0.30 0.30; cone flicker electroretinogram responses (uV): not detectable not detectable (age 19) (age 19), rod electroretinogram responses (b-wave, uV): not detectable not detectable"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301356"	"04214"	"00409239"	"00000"	"Familial, autosomal recessive"	"60y"	"47y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 0.20; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 60y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 / 0.50; 64y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 / 0.50"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301357"	"04214"	"00409240"	"00000"	"Familial, autosomal recessive"	"20y"	"20y: refraction (diopters): -1.5, best corrected visual acuity right/left eye: 0.20 0.20; cone flicker electroretinogram responses (uV): 9 / 8, rod electroretinogram responses (b-wave, uV): 5 / 4"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301358"	"04214"	"00409241"	"00000"	"Familial, autosomal recessive"	"25y"	"25y: best corrected visual acuity right/left eye: finger counting 1m / 0.20; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301359"	"04214"	"00409242"	"00000"	"Familial, autosomal recessive"	"51y"	"25y: refraction (diopters): +1.5, best corrected visual acuity right/left eye: 0.40 0.40; cone flicker electroretinogram responses (uV): not detectable / not detectable (age 38), rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 51y: best corrected visual acuity right/left eye: 0.60 / 0.60"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301360"	"04214"	"00409243"	"00000"	"Familial, autosomal recessive"	"32y"	"25y: refraction (diopters): -3.25, best corrected visual acuity right/left eye: 0.18 0.18; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable not detectable; 32y: best corrected visual acuity right/left eye: hand motion 0.5m / hand motion 0.5m"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301361"	"04214"	"00409244"	"00000"	"Familial, autosomal recessive"	"37y"	"37y: refraction (diopters): -8, best corrected visual acuity right/left eye: 0.18 0.18; cone flicker electroretinogram responses (uV): not performed, rod electroretinogram responses (b-wave, uV): not performed"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301362"	"04214"	"00409245"	"00000"	"Familial, autosomal recessive"	""	"no clinical data available"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301363"	"04214"	"00409246"	"00000"	"Familial, autosomal recessive"	"20y"	"20y: refraction (diopters): -0.5, best corrected visual acuity right/left eye: 0.10 0.10; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable not detectable"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301364"	"04214"	"00409247"	"00000"	"Familial, autosomal recessive"	"34y"	"34y: refraction (diopters): +1.5, best corrected visual acuity right/left eye: 300; cone flicker electroretinogram responses (uV): not performed, rod electroretinogram responses (b-wave, uV): not performed"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301365"	"04214"	"00409248"	"00000"	"Familial, autosomal recessive"	"43y"	"43y: refraction (diopters): +0.5, best corrected visual acuity right/left eye: 1.00 30; cone flicker electroretinogram responses (uV): not performed, rod electroretinogram responses (b-wave, uV): not performed"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301366"	"04214"	"00409249"	"00000"	"Familial, autosomal recessive"	"18y"	"18y: refraction (diopters): +0.5, best corrected visual acuity right/left eye: 100; cone flicker electroretinogram responses (uV): <5  / <5, rod electroretinogram responses (b-wave, uV): not detectable not detectable"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301367"	"04214"	"00409250"	"00000"	"Familial, autosomal recessive"	"17y"	"17y: refraction (diopters): plano, best corrected visual acuity right/left eye: 18 / 18; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301368"	"04214"	"00409251"	"00000"	"Familial, autosomal recessive"	"13y"	"13y: refraction (diopters): plano, best corrected visual acuity right/left eye: 0.00 / 0.00; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): 50 / 50"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301369"	"04214"	"00409252"	"00000"	"Familial, autosomal recessive"	"32y"	"20y: refraction (diopters): -1, best corrected visual acuity right/left eye: 0.10 0.10; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 26y: best corrected visual acuity right/left eye: 0.30 / 0.30; 32y: best corrected visual acuity right/left eye: 0.30 / 0.30"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301370"	"04214"	"00409253"	"00000"	"Familial, autosomal recessive"	""	"no clinical data available"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301372"	"04214"	"00409255"	"00000"	"Familial, autosomal recessive"	""	"fundus: diffuse pigmentary retinal degeneration with pigmentary clumping and vascular attenuation"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301373"	"04214"	"00409256"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301374"	"04214"	"00409257"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000301388"	"00198"	"00409271"	"00000"	"Familial, autosomal recessive"	"8m"	"intra-uterine growth retardation and decreased fetal movements; born at 37 weeks of gestation with a weight of 2090 g (-3.25 SD), a length of 42 cm (-4 SD), an occipitofrontal circumference of 32 cm (-2 SD) and Apgar score 10/10; two episodes of severe bradycardia during the first day of life and was transferred to an intensive care unit; axial hypotonia, peripheral hypertonia, enlarged liver, micropenis and cryptorchidism; transient increase of serum transaminases, renal failure; developed epilepsy; liver sonography: mild dilatation of the biliary duct; little psychomotor acquisitions, no eye contact, poor sucking with frequent regurgitations; failure to thrive; 2 months: fundus: pale papillae, electroretinogram: showed no response to any type of stimulation; brainstem evoked auditory potentials: sensorineural deafness with an auditory threshold of 90 dB (right ear) and 100 dB (left ear); died at 8 months during a status epilepticus"	""	""	""	""	""	""	""	"congenital disorder of glycosylation, type 1bb"	""
"0000328610"	"06906"	"00438707"	"00006"	"Isolated (sporadic)"	"05y06m"	"see paper; ..., global developmental delay; 1y-seizure; EEG generalized spike-wave, diffuse slowing; MRI brain normal; hypotonia, tremor, wide-based gate, ataxia, no seizures for 1 year on VPA"	""	""	""	""	""	""	""	"DEDSM"	"developmental and epileptic encephalopathy"
"0000328653"	"06906"	"00438755"	"00006"	"Isolated (sporadic)"	"05y01m"	"see paper; ..., global developmental delay, severe intellectual disability; 18m-seizures; EEG generalized spike-wave, photosensitive; MRI brain normal; hypotonia, short stature, intractable seizures"	""	""	""	""	""	""	""	"DEDSM"	"developmental and epileptic encephalopathy"
"0000328654"	"06906"	"00438756"	"00006"	"Isolated (sporadic)"	"05y06m"	"see paper; ..., severe global developmental delay, severe intellectual disability; 4y-seizures; EEG epileptiform; MRI brain normal, Chiari I malformation; hypotonia, tremor, ataxia, inattention, obesity, seizures controlled with OXBZ"	""	""	""	""	""	""	""	"DEDSM"	"developmental and epileptic encephalopathy"
"0000328655"	"06906"	"00438757"	"00006"	"Isolated (sporadic)"	"35y"	"see paper; ..., global developmental delay, severe intellectual disability; 6y-9y-seizures; EEG generalized poly-spike and wave; MRI brain normal, generalized tremor, facial myokimia, bradykinesia, hypomimia, rigidity, freezing and impaired postural reactions, frontal lobe impairment features, no seizures since the age of 9 years, normal glycosylation assay; current therapy VPA, clonazepam, tetrabenazine"	""	""	""	""	""	""	""	"DEDSM"	"developmental and epileptic encephalopathy"
"0000328656"	"00139"	"00438758"	"00006"	"Isolated (sporadic)"	"07y01m"	"see paper; ..., global developmental delay, moderate/severe intellectual disability; 7y-seizures; EEG normal; MRI brain normal; ataxia, myoclonus, tremor, dystonia, short stature, no treatment initiated yet for cortical myoclonus, normal glycosylation assay"	""	""	""	""	""	""	""	"DEDSM"	"intellectual disability"


## Screenings ## Do not remove or alter this header ##
## Count = 80
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000156179"	"00155314"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156180"	"00155315"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000232980"	"00231881"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232981"	"00231882"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232982"	"00231883"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232983"	"00231884"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232984"	"00231885"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232985"	"00231886"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232986"	"00231887"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234691"	"00233592"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000310867"	"00309722"	"1"	"00006"	"00006"	"2020-09-01 21:40:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310868"	"00309723"	"1"	"00006"	"00006"	"2020-09-01 21:43:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310869"	"00309724"	"1"	"00006"	"00006"	"2020-09-01 21:48:05"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310894"	"00309749"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310895"	"00309750"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310896"	"00309751"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310897"	"00309752"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310898"	"00309753"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310904"	"00309759"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310905"	"00309760"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310906"	"00309761"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310907"	"00309762"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310908"	"00309763"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310909"	"00309764"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310910"	"00309765"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310911"	"00309766"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310912"	"00309767"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310913"	"00309768"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000310914"	"00309769"	"1"	"00006"	"00006"	"2020-09-02 12:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000335049"	"00333823"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335126"	"00333900"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336104"	"00334875"	"1"	"03286"	"03286"	"2021-03-02 09:42:58"	"00006"	"2021-04-14 09:22:08"	"SEQ;SEQ-NG"	"DNA"	"WES trio"	""
"0000336106"	"00334877"	"1"	"03286"	"03286"	"2021-03-02 09:47:39"	"00006"	"2021-04-14 09:22:08"	"SEQ;SEQ-NG"	"DNA"	"WES"	""
"0000336107"	"00334878"	"1"	"03286"	"03286"	"2021-03-02 09:50:43"	"00006"	"2021-04-14 09:22:08"	"SEQ;SEQ-NG"	"DNA"	"WES"	""
"0000336688"	"00335459"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336689"	"00335460"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336690"	"00335461"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360032"	"00358802"	"1"	"01164"	"01164"	"2021-03-12 15:46:35"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000373895"	"00372663"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000377965"	"00376759"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377991"	"00376785"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000385041"	"00383816"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385042"	"00383817"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385043"	"00383818"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385044"	"00383819"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000387883"	"00386655"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387894"	"00386666"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388263"	"00387037"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388264"	"00387038"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388734"	"00387508"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"PE"	"DNA"	""	""
"0000389782"	"00388540"	"1"	"00000"	"03840"	"2021-11-04 19:02:37"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood;saliva"	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000410498"	"00409234"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410499"	"00409235"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410500"	"00409236"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410501"	"00409237"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410502"	"00409238"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410503"	"00409239"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410504"	"00409240"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410505"	"00409241"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410506"	"00409242"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410507"	"00409243"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410508"	"00409244"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410509"	"00409245"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410510"	"00409246"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410511"	"00409247"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410512"	"00409248"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410513"	"00409249"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410514"	"00409250"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410515"	"00409251"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410516"	"00409252"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410517"	"00409253"	"1"	"00000"	"03840"	"2022-05-05 21:20:05"	""	""	"SEQ"	"DNA"	""	""
"0000410519"	"00409255"	"1"	"00000"	"03840"	"2022-05-06 10:23:08"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole-exome sequencing"
"0000410520"	"00409256"	"1"	"00000"	"03840"	"2022-05-06 10:23:08"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole-exome sequencing"
"0000410521"	"00409257"	"1"	"00000"	"03840"	"2022-05-06 10:23:08"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole-exome sequencing"
"0000410535"	"00409271"	"1"	"00000"	"03840"	"2022-05-06 11:05:57"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole-exome sequencing"
"0000440189"	"00438707"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	"00006"	"2023-10-21 22:17:41"	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440237"	"00438755"	"1"	"00006"	"00006"	"2023-10-23 15:04:58"	""	""	"SEQ-NG"	"DNA"	""	"WES clinical"
"0000440238"	"00438756"	"1"	"00006"	"00006"	"2023-10-23 15:09:00"	""	""	"SEQ-NG"	"DNA"	""	"trio WES"
"0000440239"	"00438757"	"1"	"00006"	"00006"	"2023-10-23 15:15:39"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000440240"	"00438758"	"1"	"00006"	"00006"	"2023-10-23 15:18:50"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 65
"{{screeningid}}"	"{{geneid}}"
"0000156179"	"DHDDS"
"0000156180"	"DHDDS"
"0000232980"	"DHDDS"
"0000232981"	"DHDDS"
"0000232982"	"DHDDS"
"0000232983"	"DHDDS"
"0000232984"	"DHDDS"
"0000232985"	"DHDDS"
"0000232986"	"DHDDS"
"0000234691"	"DHDDS"
"0000310867"	"DHDDS"
"0000310868"	"DHDDS"
"0000310869"	"DHDDS"
"0000310894"	"DHDDS"
"0000310895"	"DHDDS"
"0000310896"	"DHDDS"
"0000310897"	"DHDDS"
"0000310898"	"DHDDS"
"0000310904"	"DHDDS"
"0000310905"	"DHDDS"
"0000310906"	"DHDDS"
"0000310907"	"DHDDS"
"0000310908"	"DHDDS"
"0000310909"	"DHDDS"
"0000310910"	"DHDDS"
"0000310911"	"DHDDS"
"0000310912"	"DHDDS"
"0000310913"	"DHDDS"
"0000310914"	"DHDDS"
"0000335049"	"DHDDS"
"0000335126"	"DHDDS"
"0000336688"	"DHDDS"
"0000336689"	"DHDDS"
"0000336690"	"DHDDS"
"0000360032"	"DHDDS"
"0000387883"	"DHDDS"
"0000387894"	"DHDDS"
"0000388263"	"DHDDS"
"0000388264"	"DHDDS"
"0000388734"	"DHDDS"
"0000389782"	"DHDDS"
"0000410498"	"DHDDS"
"0000410499"	"DHDDS"
"0000410500"	"DHDDS"
"0000410501"	"DHDDS"
"0000410502"	"DHDDS"
"0000410503"	"DHDDS"
"0000410504"	"DHDDS"
"0000410505"	"DHDDS"
"0000410506"	"DHDDS"
"0000410507"	"DHDDS"
"0000410508"	"DHDDS"
"0000410509"	"DHDDS"
"0000410510"	"DHDDS"
"0000410511"	"DHDDS"
"0000410512"	"DHDDS"
"0000410513"	"DHDDS"
"0000410514"	"DHDDS"
"0000410515"	"DHDDS"
"0000410516"	"DHDDS"
"0000410517"	"DHDDS"
"0000410519"	"DHDDS"
"0000410520"	"DHDDS"
"0000410521"	"DHDDS"
"0000410535"	"DHDDS"


## 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 = 114
"{{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}}"
"0000265325"	"0"	"10"	"1"	"26772797"	"26772797"	"subst"	"0.000727205"	"02330"	"DHDDS_000002"	"g.26772797C>T"	""	""	""	"DHDDS(NM_001319959.1):c.45-10C>T, DHDDS(NM_024887.4):c.324-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26446306C>T"	""	"benign"	""
"0000265326"	"0"	"10"	"1"	"26759513"	"26759513"	"subst"	"0"	"02330"	"DHDDS_000001"	"g.26759513C>T"	""	""	""	"DHDDS(NM_024887.4):c.63+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26433022C>T"	""	"benign"	""
"0000274989"	"0"	"30"	"1"	"26795513"	"26795513"	"subst"	"5.28606E-5"	"01943"	"DHDDS_000003"	"g.26795513G>A"	""	""	""	"DHDDS(NM_024887.3):c.896G>A (p.R299H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26469022G>A"	""	"likely benign"	""
"0000345282"	"0"	"50"	"1"	"26786594"	"26786594"	"subst"	"8.12282E-6"	"02327"	"DHDDS_000004"	"g.26786594G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26460103G>A"	""	"VUS"	""
"0000358101"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"01243"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Sharon 2015:26261414}, {PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000358102"	"2"	"70"	"1"	"26769333"	"26769333"	"subst"	"2.84669E-5"	"01243"	"DHDDS_000006"	"g.26769333C>T"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26442842C>T"	""	"likely pathogenic (recessive)"	""
"0000358378"	"1"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"01243"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000475688"	"0"	"50"	"1"	"26764765"	"26764765"	"subst"	"0"	"02591"	"DHDDS_000007"	"g.26764765A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438274A>G"	""	"VUS"	""
"0000475689"	"0"	"50"	"1"	"26769333"	"26769333"	"subst"	"2.84669E-5"	"02591"	"DHDDS_000006"	"g.26769333C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs754564043"	"0"	""	""	"g.26442842C>T"	""	"VUS"	""
"0000475690"	"0"	"50"	"1"	"26772850"	"26772850"	"subst"	"1.62433E-5"	"02591"	"DHDDS_000008"	"g.26772850G>A"	"5/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs140565871"	"0"	""	""	"g.26446359G>A"	""	"VUS"	""
"0000475691"	"0"	"10"	"1"	"26786627"	"26786627"	"subst"	"0.30504"	"02591"	"DHDDS_000009"	"g.26786627G>A"	"480/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs3816539"	"0"	""	""	"g.26460136G>A"	""	"benign"	""
"0000475692"	"0"	"50"	"1"	"26795476"	"26795476"	"subst"	"1.22124E-5"	"02591"	"DHDDS_000010"	"g.26795476C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs762788261"	"0"	""	""	"g.26468985C>A"	""	"VUS"	""
"0000475693"	"0"	"50"	"1"	"26795589"	"26795589"	"subst"	"0"	"02591"	"DHDDS_000011"	"g.26795589C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26469098C>A"	""	"VUS"	""
"0000475694"	"0"	"50"	"1"	"26795599"	"26795599"	"subst"	"2.45845E-5"	"02591"	"DHDDS_000012"	"g.26795599C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26469108C>T"	""	"VUS"	""
"0000477399"	"3"	"10"	"1"	"26786627"	"26786627"	"subst"	"0.30504"	"02591"	"DHDDS_000009"	"g.26786627G>A"	"667/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs3816539"	"0"	""	""	"g.26460136G>A"	""	"benign"	""
"0000506938"	"0"	"90"	"1"	"26764704"	"26764704"	"subst"	"0"	"02327"	"DHDDS_000013"	"g.26764704C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26438213C>T"	""	"pathogenic"	""
"0000506939"	"0"	"30"	"1"	"26764735"	"26764735"	"subst"	"0.000730911"	"02330"	"DHDDS_000014"	"g.26764735G>A"	""	""	""	"DHDDS(NM_024887.4):c.140G>A (p.R47Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26438244G>A"	""	"likely benign"	""
"0000506940"	"0"	"30"	"1"	"26769261"	"26769261"	"subst"	"0"	"02327"	"DHDDS_000015"	"g.26769261A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26442770A>C"	""	"likely benign"	""
"0000506941"	"0"	"10"	"1"	"26774159"	"26774159"	"subst"	"0.000578336"	"02330"	"DHDDS_000016"	"g.26774159G>A"	""	""	""	"DHDDS(NM_024887.4):c.542+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26447668G>A"	""	"benign"	""
"0000506942"	"0"	"70"	"1"	"26784353"	"26784353"	"subst"	"0"	"02329"	"DHDDS_000017"	"g.26784353G>A"	""	""	""	"DHDDS(NM_024887.4):c.614G>A (p.R205Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26457862G>A"	""	"likely pathogenic"	""
"0000506943"	"0"	"90"	"1"	"26784371"	"26784371"	"subst"	"0"	"02327"	"DHDDS_000018"	"g.26784371G>A"	""	""	""	"DHDDS(NM_024887.4):c.632G>A (p.R211Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26457880G>A"	""	"pathogenic"	""
"0000506944"	"0"	"10"	"1"	"26795532"	"26795532"	"subst"	"8.13511E-6"	"02330"	"DHDDS_000019"	"g.26795532C>G"	""	""	""	"DHDDS(NM_024887.4):c.915C>G (p.A305=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26469041C>G"	""	"benign"	""
"0000653993"	"0"	"30"	"1"	"26774125"	"26774125"	"subst"	"4.0625E-6"	"01943"	"DHDDS_000020"	"g.26774125G>C"	""	""	""	"DHDDS(NM_001319959.1):c.237G>C (p.G79=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26447634G>C"	""	"likely benign"	""
"0000653994"	"0"	"90"	"1"	"26795615"	"26795615"	"subst"	"1.23315E-5"	"01943"	"DHDDS_000021"	"g.26795615C>G"	""	""	""	"DHDDS(NM_001319959.1):c.716C>G (p.S239*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26469124C>G"	""	"pathogenic"	""
"0000686008"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686009"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686010"	"1"	"90"	"1"	"26784355"	"26784355"	"subst"	"0"	"00006"	"DHDDS_000022"	"g.26784355A>G"	""	"{PMID:Kimchi 2018:29276052}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686034"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Venturini 2015:25255364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000686035"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Venturini 2015:25255364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000686036"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Venturini 2015:25255364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000686037"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Venturini 2015:25255364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000686038"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Venturini 2015:25255364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic (recessive)"	""
"0000686046"	"2"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686047"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686048"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686049"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686050"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686051"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686052"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686053"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686054"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686055"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686056"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686057"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00006"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000688123"	"0"	"90"	"1"	"26764705"	"26764705"	"subst"	"0"	"02327"	"DHDDS_000023"	"g.26764705G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000688124"	"0"	"30"	"1"	"26772797"	"26772797"	"subst"	"0.000727205"	"01943"	"DHDDS_000002"	"g.26772797C>T"	""	""	""	"DHDDS(NM_001319959.1):c.45-10C>T, DHDDS(NM_024887.4):c.324-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000733058"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000733135"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000735136"	"0"	"90"	"1"	"26784371"	"26784371"	"subst"	"0"	"03286"	"DHDDS_000018"	"g.26784371G>A"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	""	"ACMG PS1, PS2, PS3, PM1, PM2, PP2, PP3, PP5; The patient\'s electroclinical phenotype is similar to previous reports for this gene, notably onset of myoclonus and ataxia in the first decade of life on a background of global developmental delay.  The confirmed de novo has been reported previously as pathogenic in a patient with developmental and epileptic encephalopathy and our functional studies support the damaging in silico predications. It is therefore with high confidence that we expand the DHDDS clinical spectrum to PME."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000735143"	"0"	"90"	"1"	"26784353"	"26784353"	"subst"	"0"	"03286"	"DHDDS_000017"	"g.26784353G>A"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	""	"ACMG PS3, PM1, PM2, PP2, PP3, PP5; Although there is no history of developmental delay, the patient\'s electroclinical phenotype shares several other features with previous reports for this gene, including early onset ataxia and subsequent myoclonus. Functional studies support the damaging in silico predications for this novel variant, but without parental DNA samples to confirm de novo status, we remain cautious and report this finding with moderate confidence."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000735144"	"0"	"50"	"1"	"26769324"	"26769324"	"subst"	"0"	"03286"	"DHDDS_000024"	"g.26769324G>A"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	""	"ACMG PM2, PP3, PP4; The patient\'s electroclinical phenotype shares some features with previous reports for this gene, namely ataxia and myoclonus. However onset is considerably later, and there is no history of developmental delay. Whilst functional studies support a damaging effect for this novel variant, but with a maternal DNA sample to confirm de novo status, we remain cautious and report this finding with moderate confidence."	"De novo"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000736178"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Biswas 2017:28130426}"	""	""	""	"Germline"	""	"rs147394623"	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000736179"	"1"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Biswas 2017:28130426}"	""	""	""	"Germline"	""	"rs147394623"	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000736180"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Biswas 2017:28130426}"	""	""	""	"Germline"	""	"rs147394623"	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000736240"	"2"	"90"	"1"	"26784355"	"26784355"	"subst"	"0"	"00000"	"DHDDS_000022"	"g.26784355A>G"	""	"{PMID:Biswas 2017:28130426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26457864A>G"	""	"pathogenic"	""
"0000759682"	"0"	"50"	"1"	"26784353"	"26784353"	"subst"	"0"	"01164"	"DHDDS_000017"	"g.26784353G>A"	""	""	""	""	"ACMG: PM6, PM2_SUP, PP3: class 3"	"Germline"	"?"	""	""	""	""	""	"{CV:000570739}"	"VUS (!)"	"ACMG"
"0000784538"	"0"	"50"	"1"	"26764652"	"26764652"	"subst"	"8.93387E-5"	"00000"	"DHDDS_000025"	"g.26764652T>C"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26438161T>C"	""	"VUS"	""
"0000790500"	"0"	"50"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs147394623"	"0"	""	""	"g.26438228A>G"	""	"VUS"	""
"0000790610"	"0"	"50"	"1"	"26769346"	"26769346"	"subst"	"2.44186E-5"	"00000"	"DHDDS_000026"	"g.26769346G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.26442855G>A"	""	"VUS"	""
"0000799287"	"0"	"50"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"01943"	"DHDDS_000005"	"g.26764719A>G"	""	""	""	"DHDDS(NM_024887.3):c.124A>G (p.K42E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799288"	"0"	"30"	"1"	"26784291"	"26784291"	"subst"	"0"	"01943"	"DHDDS_000027"	"g.26784291T>A"	""	""	""	"DHDDS(NM_001319959.1):c.273T>A (p.S91=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811898"	"0"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Lys42Glu:c.124A/G; intronic variant, c.441-24A/G"	""	"Germline"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000811899"	"0"	"70"	"1"	"26774026"	"26774026"	"subst"	"1.22056E-5"	"00000"	"DHDDS_000028"	"g.26774026A>G"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Lys42Glu:c.124A/G; intronic variant, c.441-24A/G"	""	"Germline"	"?"	""	"0"	""	""	"g.26447535A>G"	""	"likely pathogenic"	""
"0000811900"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Lys42Glu:c.124A/G (homozygous)"	""	"Germline"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000811901"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Lys42Glu:c.124A/G (homozygous)"	""	"Germline"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000811902"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Lys42Glu:c.124A/G (homozygous)"	""	"Germline"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000816041"	"0"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"DHDDS c.124A>G, p.Lys42Glu"	"AJ founder mutation, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000816052"	"0"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"DHDDS c.124A>G, p.Lys42Glu"	"AJ founder mutation, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000816377"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.124A>G, p.Lys42Glu"	"AJ founder mutation, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000816388"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.124A>G, p.Lys42Glu"	"AJ founder mutation, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	""
"0000816723"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Jauregui 2020:32098976}"	""	"DHDDS c.124A>G, p.K42E"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000816724"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Jauregui 2020:32098976}"	""	"DHDDS c.124A>G, p.K42E"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000817487"	"3"	"50"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Matsui 2015:26393467}"	""	"p.K42E/p.K42E"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000819041"	"3"	"90"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Dineiro 2020:32483926}"	""	"DHDDS c.124A>G, p.(Lys42Glu)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.26438228A>G"	""	"pathogenic"	"ACMG"
"0000847804"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847805"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847806"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847807"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847808"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847809"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847810"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847811"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847812"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847813"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847814"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847815"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847816"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847817"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847818"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847819"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847820"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847821"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847822"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847823"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zelinger 2011:21295282}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847842"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zuchner 2011:21295283}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847843"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zuchner 2011:21295283}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847844"	"3"	"70"	"1"	"26764719"	"26764719"	"subst"	"0.000223332"	"00000"	"DHDDS_000005"	"g.26764719A>G"	""	"{PMID:Zuchner 2011:21295283}"	""	"DHDDS c.124A>G (p.Lys42Glu)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26438228A>G"	""	"likely pathogenic"	""
"0000847861"	"11"	"70"	"1"	"26769233"	"26769233"	"subst"	"0"	"00000"	"DHDDS_000029"	"g.26769233G>A"	""	"{PMID:Sabry 2016:27343064}"	""	"DHDDS c.192G > A (p.W64X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26442742G>A"	""	"likely pathogenic"	""
"0000847862"	"21"	"70"	"1"	"26774026"	"26774026"	"subst"	"1.22056E-5"	"00000"	"DHDDS_000028"	"g.26774026A>G"	""	"{PMID:Sabry 2016:27343064}"	""	"DHDDS c.441-24A > G, c.440_543del102ins63 (p.C148EfsX11)"	"creates a cryptic donor splice site (with score of 0.99 rather than 0.65 for the normal exon 6 donor site) leading to loss of exon 6, a 63 base insertion into intron 5 - tested on mRNA level; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.26447535A>G"	""	"likely pathogenic"	""
"0000848693"	"0"	"30"	"1"	"26764790"	"26764790"	"subst"	"0"	"02330"	"DHDDS_000030"	"g.26764790C>T"	""	""	""	"DHDDS(NM_001319959.2):c.-123+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857434"	"0"	"50"	"1"	"26774123"	"26774123"	"subst"	"0"	"01943"	"DHDDS_000031"	"g.26774123G>C"	""	""	""	"DHDDS(NM_001319959.1):c.235G>C (p.G79R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883373"	"0"	"90"	"1"	"26784371"	"26784371"	"subst"	"0"	"02329"	"DHDDS_000018"	"g.26784371G>A"	""	""	""	"DHDDS(NM_024887.4):c.632G>A (p.R211Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000936347"	"0"	"90"	"1"	"26764705"	"26764705"	"subst"	"0"	"00006"	"DHDDS_000023"	"g.26764705G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_205861:c.G110A (R37H)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000936545"	"0"	"70"	"1"	"26764705"	"26764705"	"subst"	"0"	"00006"	"DHDDS_000023"	"g.26764705G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.26438214G>A"	""	"likely pathogenic"	""
"0000936546"	"0"	"70"	"1"	"26784371"	"26784371"	"subst"	"0"	"00006"	"DHDDS_000018"	"g.26784371G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.26457880G>A"	""	"likely pathogenic (dominant)"	""
"0000936547"	"0"	"70"	"1"	"26784371"	"26784371"	"subst"	"0"	"00006"	"DHDDS_000018"	"g.26784371G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.26457880G>A"	""	"likely pathogenic (dominant)"	""
"0000936548"	"0"	"70"	"1"	"26784371"	"26784371"	"subst"	"0"	"00006"	"DHDDS_000018"	"g.26784371G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.26457880G>A"	""	"likely pathogenic (dominant)"	""
"0000947208"	"0"	"50"	"1"	"26795537"	"26795537"	"subst"	"8.5436E-5"	"02325"	"DHDDS_000032"	"g.26795537G>A"	""	""	""	"DHDDS(NM_024887.4):c.920G>A (p.R307Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960997"	"0"	"90"	"1"	"26784371"	"26784371"	"subst"	"0"	"02325"	"DHDDS_000018"	"g.26784371G>A"	""	""	""	"DHDDS(NM_024887.4):c.632G>A (p.R211Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000960998"	"0"	"50"	"1"	"26786566"	"26786566"	"subst"	"0"	"02327"	"DHDDS_000033"	"g.26786566G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973872"	"0"	"50"	"1"	"26759384"	"26759384"	"subst"	"0"	"01804"	"DHDDS_000034"	"g.26759384T>G"	""	""	""	"DHDDS(NM_205861.3):c.-53T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973873"	"0"	"50"	"1"	"26769228"	"26769228"	"subst"	"2.44093E-5"	"01804"	"DHDDS_000035"	"g.26769228C>T"	""	""	""	"DHDDS(NM_205861.3):c.187C>T (p.(Arg63Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973874"	"0"	"30"	"1"	"26769349"	"26769349"	"subst"	"8.14346E-6"	"01804"	"DHDDS_000036"	"g.26769349G>A"	""	""	""	"DHDDS(NM_205861.3):c.308G>A (p.(Arg103His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031932"	"0"	"30"	"1"	"26764293"	"26764293"	"subst"	"0"	"01804"	"DHDDS_000037"	"g.26764293A>T"	""	""	""	"DHDDS(NM_205861.3):c.64-366A>T"	"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 DHDDS
## Count = 178
"{{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}}"
"0000265325"	"00025899"	"10"	"324"	"-10"	"324"	"-10"	"c.324-10C>T"	"r.(=)"	"p.(=)"	""
"0000265325"	"00006378"	"10"	"324"	"-10"	"324"	"-10"	"c.324-10C>T"	"r.(=)"	"p.(=)"	""
"0000265326"	"00025899"	"10"	"63"	"14"	"63"	"14"	"c.63+14C>T"	"r.(=)"	"p.(=)"	""
"0000265326"	"00006378"	"10"	"63"	"14"	"63"	"14"	"c.63+14C>T"	"r.(=)"	"p.(=)"	""
"0000274989"	"00025899"	"30"	"893"	"0"	"893"	"0"	"c.893G>A"	"r.(?)"	"p.(Arg298His)"	""
"0000274989"	"00006378"	"30"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Arg299His)"	""
"0000345282"	"00025899"	"50"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Glu242Lys)"	""
"0000345282"	"00006378"	"50"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Glu242Lys)"	""
"0000358101"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	"3"
"0000358102"	"00006378"	"70"	"292"	"0"	"292"	"0"	"c.292C>T"	"r.(?)"	"p.(Arg98Trp)"	"4"
"0000358378"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	"3"
"0000475688"	"00025899"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Lys57Arg)"	""
"0000475688"	"00006378"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Lys57Arg)"	""
"0000475689"	"00025899"	"50"	"292"	"0"	"292"	"0"	"c.292C>T"	"r.(?)"	"p.(Arg98Trp)"	""
"0000475689"	"00006378"	"50"	"292"	"0"	"292"	"0"	"c.292C>T"	"r.(?)"	"p.(Arg98Trp)"	""
"0000475690"	"00025899"	"50"	"367"	"0"	"367"	"0"	"c.367G>A"	"r.(?)"	"p.(Asp123Asn)"	""
"0000475690"	"00006378"	"50"	"367"	"0"	"367"	"0"	"c.367G>A"	"r.(?)"	"p.(Asp123Asn)"	""
"0000475691"	"00025899"	"10"	"757"	"0"	"757"	"0"	"c.757G>A"	"r.(?)"	"p.(Val253Met)"	""
"0000475691"	"00006378"	"10"	"757"	"0"	"757"	"0"	"c.757G>A"	"r.(?)"	"p.(Val253Met)"	""
"0000475692"	"00025899"	"50"	"856"	"0"	"856"	"0"	"c.856C>A"	"r.(?)"	"p.(Leu286Ile)"	""
"0000475692"	"00006378"	"50"	"859"	"0"	"859"	"0"	"c.859C>A"	"r.(?)"	"p.(Leu287Ile)"	""
"0000475693"	"00025899"	"50"	"969"	"0"	"969"	"0"	"c.969C>A"	"r.(?)"	"p.(Asp323Glu)"	""
"0000475693"	"00006378"	"50"	"972"	"0"	"972"	"0"	"c.972C>A"	"r.(?)"	"p.(Asp324Glu)"	""
"0000475694"	"00025899"	"50"	"979"	"0"	"979"	"0"	"c.979C>T"	"r.(?)"	"p.(Arg327Cys)"	""
"0000475694"	"00006378"	"50"	"982"	"0"	"982"	"0"	"c.982C>T"	"r.(?)"	"p.(Arg328Cys)"	""
"0000477399"	"00025899"	"10"	"757"	"0"	"757"	"0"	"c.757G>A"	"r.(?)"	"p.(Val253Met)"	""
"0000477399"	"00006378"	"10"	"757"	"0"	"757"	"0"	"c.757G>A"	"r.(?)"	"p.(Val253Met)"	""
"0000506938"	"00025899"	"90"	"109"	"0"	"109"	"0"	"c.109C>T"	"r.(?)"	"p.(Arg37Cys)"	""
"0000506938"	"00006378"	"90"	"109"	"0"	"109"	"0"	"c.109C>T"	"r.(?)"	"p.(Arg37Cys)"	""
"0000506939"	"00025899"	"30"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47Gln)"	""
"0000506939"	"00006378"	"30"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47Gln)"	""
"0000506940"	"00025899"	"30"	"220"	"0"	"220"	"0"	"c.220A>C"	"r.(?)"	"p.(Thr74Pro)"	""
"0000506940"	"00006378"	"30"	"220"	"0"	"220"	"0"	"c.220A>C"	"r.(?)"	"p.(Thr74Pro)"	""
"0000506941"	"00025899"	"10"	"542"	"8"	"542"	"8"	"c.542+8G>A"	"r.(=)"	"p.(=)"	""
"0000506941"	"00006378"	"10"	"542"	"8"	"542"	"8"	"c.542+8G>A"	"r.(=)"	"p.(=)"	""
"0000506942"	"00025899"	"70"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Arg205Gln)"	""
"0000506942"	"00006378"	"70"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Arg205Gln)"	""
"0000506943"	"00025899"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000506943"	"00006378"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000506944"	"00025899"	"10"	"912"	"0"	"912"	"0"	"c.912C>G"	"r.(?)"	"p.(Ala304=)"	""
"0000506944"	"00006378"	"10"	"915"	"0"	"915"	"0"	"c.915C>G"	"r.(?)"	"p.(Ala305=)"	""
"0000653993"	"00025899"	"30"	"516"	"0"	"516"	"0"	"c.516G>C"	"r.(?)"	"p.(Gly172=)"	""
"0000653993"	"00006378"	"30"	"516"	"0"	"516"	"0"	"c.516G>C"	"r.(?)"	"p.(Gly172=)"	""
"0000653994"	"00025899"	"90"	"995"	"0"	"995"	"0"	"c.995C>G"	"r.(?)"	"p.(Ser332Ter)"	""
"0000653994"	"00006378"	"90"	"998"	"0"	"998"	"0"	"c.998C>G"	"r.(?)"	"p.(Ser333Ter)"	""
"0000686008"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686009"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686010"	"00006378"	"90"	"616"	"0"	"616"	"0"	"c.616A>G"	"r.(?)"	"p.(Thr206Ala)"	""
"0000686034"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686035"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686036"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686037"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686038"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686046"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686047"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686048"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686049"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686050"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686051"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686052"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686053"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686054"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686055"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686056"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000686057"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000688123"	"00025899"	"90"	"110"	"0"	"110"	"0"	"c.110G>A"	"r.(?)"	"p.(Arg37His)"	""
"0000688123"	"00006378"	"90"	"110"	"0"	"110"	"0"	"c.110G>A"	"r.(?)"	"p.(Arg37His)"	""
"0000688124"	"00025899"	"30"	"324"	"-10"	"324"	"-10"	"c.324-10C>T"	"r.(=)"	"p.(=)"	""
"0000688124"	"00006378"	"30"	"324"	"-10"	"324"	"-10"	"c.324-10C>T"	"r.(=)"	"p.(=)"	""
"0000733058"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000733135"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000735136"	"00006378"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000735143"	"00006378"	"90"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Arg205Gln)"	""
"0000735144"	"00006378"	"50"	"283"	"0"	"283"	"0"	"c.283G>A"	"r.(?)"	"p.(Asp95Asn)"	""
"0000736178"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000736179"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000736180"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000736240"	"00006378"	"90"	"616"	"0"	"616"	"0"	"c.616A>G"	"r.(?)"	"p.(Thr206Ala)"	""
"0000759682"	"00006378"	"50"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Arg205Gln)"	""
"0000784538"	"00006378"	"50"	"64"	"-7"	"64"	"-7"	"c.64-7T>C"	"r.(=)"	"p.(=)"	""
"0000790500"	"00006378"	"50"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000790610"	"00006378"	"50"	"305"	"0"	"305"	"0"	"c.305G>A"	"r.(?)"	"p.(Ser102Asn)"	""
"0000799287"	"00025899"	"50"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000799287"	"00006378"	"50"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000799288"	"00025899"	"30"	"552"	"0"	"552"	"0"	"c.552T>A"	"r.(?)"	"p.(Ser184=)"	""
"0000799288"	"00006378"	"30"	"552"	"0"	"552"	"0"	"c.552T>A"	"r.(?)"	"p.(Ser184=)"	""
"0000811898"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000811899"	"00006378"	"70"	"441"	"-24"	"441"	"-24"	"c.441-24A>G"	"r.spl?"	"p.(?)"	""
"0000811900"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000811901"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000811902"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816041"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816052"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816377"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816388"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816723"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816723"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816724"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000816724"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000817487"	"00006378"	"50"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	"3"
"0000819041"	"00025899"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000819041"	"00006378"	"90"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847804"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847804"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847805"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847805"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847806"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847806"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847807"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847807"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847808"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847808"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847809"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847809"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847810"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847810"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847811"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847811"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847812"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847812"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847813"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847813"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847814"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847814"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847815"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847815"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847816"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847816"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847817"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847817"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847818"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847818"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847819"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847819"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847820"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847820"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847821"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847821"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847822"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847822"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847823"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847823"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847842"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847842"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847843"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847843"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847844"	"00025899"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847844"	"00006378"	"70"	"124"	"0"	"124"	"0"	"c.124A>G"	"r.(?)"	"p.(Lys42Glu)"	""
"0000847861"	"00025899"	"70"	"192"	"0"	"192"	"0"	"c.192G>A"	"r.(?)"	"p.(Trp64*)"	""
"0000847861"	"00006378"	"70"	"192"	"0"	"192"	"0"	"c.192G>A"	"r.(?)"	"p.(Trp64Ter)"	"4"
"0000847862"	"00025899"	"70"	"441"	"-24"	"441"	"-24"	"c.441-24A>G"	"r.(=)"	"p.(=)"	""
"0000847862"	"00006378"	"70"	"441"	"-24"	"441"	"-24"	"c.441-24A>G"	"r.440_543del102ins63"	"p.(Cys148Glufs*11)"	"5i"
"0000848693"	"00025899"	"30"	"180"	"15"	"180"	"15"	"c.180+15C>T"	"r.(=)"	"p.(=)"	""
"0000848693"	"00006378"	"30"	"180"	"15"	"180"	"15"	"c.180+15C>T"	"r.(=)"	"p.(=)"	""
"0000857434"	"00025899"	"50"	"514"	"0"	"514"	"0"	"c.514G>C"	"r.(?)"	"p.(Gly172Arg)"	""
"0000857434"	"00006378"	"50"	"514"	"0"	"514"	"0"	"c.514G>C"	"r.(?)"	"p.(Gly172Arg)"	""
"0000883373"	"00025899"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000883373"	"00006378"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000936347"	"00025899"	"90"	"110"	"0"	"110"	"0"	"c.110G>A"	"r.(?)"	"p.(Arg37His)"	""
"0000936347"	"00006378"	"90"	"110"	"0"	"110"	"0"	"c.110G>A"	"r.(?)"	"p.(Arg37His)"	""
"0000936545"	"00006378"	"70"	"110"	"0"	"110"	"0"	"c.110G>A"	"r.(?)"	"p.(Arg37His)"	""
"0000936546"	"00006378"	"70"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000936547"	"00006378"	"70"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000936548"	"00006378"	"70"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000947208"	"00025899"	"50"	"917"	"0"	"917"	"0"	"c.917G>A"	"r.(?)"	"p.(Arg306Gln)"	""
"0000947208"	"00006378"	"50"	"920"	"0"	"920"	"0"	"c.920G>A"	"r.(?)"	"p.(Arg307Gln)"	""
"0000960997"	"00025899"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000960997"	"00006378"	"90"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211Gln)"	""
"0000960998"	"00025899"	"50"	"696"	"0"	"696"	"0"	"c.696G>A"	"r.(?)"	"p.(Trp232*)"	""
"0000960998"	"00006378"	"50"	"696"	"0"	"696"	"0"	"c.696G>A"	"r.(?)"	"p.(Trp232*)"	""
"0000973872"	"00025899"	"50"	"-53"	"0"	"-53"	"0"	"c.-53T>G"	"r.(?)"	"p.(=)"	""
"0000973872"	"00006378"	"50"	"-53"	"0"	"-53"	"0"	"c.-53T>G"	"r.(?)"	"p.(=)"	""
"0000973873"	"00025899"	"50"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Trp)"	""
"0000973873"	"00006378"	"50"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Trp)"	""
"0000973874"	"00025899"	"30"	"308"	"0"	"308"	"0"	"c.308G>A"	"r.(?)"	"p.(Arg103His)"	""
"0000973874"	"00006378"	"30"	"308"	"0"	"308"	"0"	"c.308G>A"	"r.(?)"	"p.(Arg103His)"	""
"0001031932"	"00025899"	"30"	"64"	"-366"	"64"	"-366"	"c.64-366A>T"	"r.(=)"	"p.(=)"	""
"0001031932"	"00006378"	"30"	"64"	"-366"	"64"	"-366"	"c.64-366A>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 87
"{{screeningid}}"	"{{variantid}}"
"0000156179"	"0000358101"
"0000156180"	"0000358102"
"0000156180"	"0000358378"
"0000232980"	"0000475688"
"0000232981"	"0000475689"
"0000232982"	"0000475690"
"0000232983"	"0000475691"
"0000232984"	"0000475692"
"0000232985"	"0000475693"
"0000232986"	"0000475694"
"0000234691"	"0000477399"
"0000310867"	"0000686008"
"0000310868"	"0000686009"
"0000310869"	"0000686010"
"0000310869"	"0000686046"
"0000310894"	"0000686034"
"0000310895"	"0000686035"
"0000310896"	"0000686036"
"0000310897"	"0000686037"
"0000310898"	"0000686038"
"0000310904"	"0000686047"
"0000310905"	"0000686048"
"0000310906"	"0000686049"
"0000310907"	"0000686050"
"0000310908"	"0000686051"
"0000310909"	"0000686052"
"0000310910"	"0000686053"
"0000310911"	"0000686054"
"0000310912"	"0000686055"
"0000310913"	"0000686056"
"0000310914"	"0000686057"
"0000335049"	"0000733058"
"0000335126"	"0000733135"
"0000336104"	"0000735136"
"0000336106"	"0000735143"
"0000336107"	"0000735144"
"0000336688"	"0000736178"
"0000336689"	"0000736179"
"0000336689"	"0000736240"
"0000336690"	"0000736180"
"0000360032"	"0000759682"
"0000373895"	"0000784538"
"0000377965"	"0000790500"
"0000377991"	"0000790610"
"0000385041"	"0000811898"
"0000385041"	"0000811899"
"0000385042"	"0000811900"
"0000385043"	"0000811901"
"0000385044"	"0000811902"
"0000387883"	"0000816041"
"0000387883"	"0000816377"
"0000387894"	"0000816052"
"0000387894"	"0000816388"
"0000388263"	"0000816723"
"0000388264"	"0000816724"
"0000388734"	"0000817487"
"0000389782"	"0000819041"
"0000410498"	"0000847804"
"0000410499"	"0000847805"
"0000410500"	"0000847806"
"0000410501"	"0000847807"
"0000410502"	"0000847808"
"0000410503"	"0000847809"
"0000410504"	"0000847810"
"0000410505"	"0000847811"
"0000410506"	"0000847812"
"0000410507"	"0000847813"
"0000410508"	"0000847814"
"0000410509"	"0000847815"
"0000410510"	"0000847816"
"0000410511"	"0000847817"
"0000410512"	"0000847818"
"0000410513"	"0000847819"
"0000410514"	"0000847820"
"0000410515"	"0000847821"
"0000410516"	"0000847822"
"0000410517"	"0000847823"
"0000410519"	"0000847842"
"0000410520"	"0000847843"
"0000410521"	"0000847844"
"0000410535"	"0000847861"
"0000410535"	"0000847862"
"0000440189"	"0000936347"
"0000440237"	"0000936545"
"0000440238"	"0000936546"
"0000440239"	"0000936547"
"0000440240"	"0000936548"