### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EFTUD2)
# 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}}"
"EFTUD2"	"elongation factor Tu GTP binding domain containing 2"	"17"	"q21.31"	"unknown"	"NG_032674.1"	"UD_132378620380"	""	"https://www.LOVD.nl/EFTUD2"	""	"1"	"30858"	"9343"	"603892"	"1"	"1"	"1"	"1"	"Establishment 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"	"http://databases.lovd.nl/shared/refseq/EFTUD2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-02 00:00:00"	"00006"	"2020-05-27 13:18:47"	"00000"	"2022-05-09 16:01:56"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00001809"	"EFTUD2"	"transcript variant 1"	"002"	"NM_004247.3"	""	"NP_004238.3"	""	""	""	"-261"	"3906"	"2919"	"42976993"	"42927655"	"00001"	"2013-05-02 11:51:33"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00124"	"MFDGA;MFDM"	"dysostosis, mandibulofacial, Guion-Almeida type (MFDGA, mandibulofacial dysostosis with microcephaly (MFDM))"	"AD"	"610536"	""	""	""	"00001"	"2013-05-02 11:49:16"	"00006"	"2020-05-27 13:19:10"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00193"	"CHARGE"	"CHARGE syndrome"	"AD"	"214800"	""	""	""	"00001"	"2013-09-09 16:22:06"	"00006"	"2020-06-17 14:19:19"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2016-10-22 17:54:40"
"05611"	"NDD"	"neurodevelopmental delay (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2019-08-07 19:22:28"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"EFTUD2"	"00124"
"EFTUD2"	"00139"


## Individuals ## Do not remove or alter this header ##
## Count = 78
"{{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}}"
"00001633"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}"	""	"M"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00001634"	""	""	""	"1"	""	"00006"	"{PMID:Lines 2012:22305528}"	""	"M"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00001635"	""	""	""	"1"	""	"00006"	"{PMID:Lines 2012:22305528}, {PMID:Wieczorek 2009:19334086}"	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00001636"	""	""	""	"1"	""	"00006"	"{PMID:Lines 2012:22305528}"	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00001637"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}, {PMID:Wieczorek 2009:19334086}"	""	"M"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00002418"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}"	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00002419"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}, {PMID:Guion-Almeida 2006:16760738}"	""	"M"	"yes"	"? (unknown)"	""	"0"	""	""	""	""
"00002420"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}"	""	"M"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00002421"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}"	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00002422"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}"	""	"M"	"no"	"Macau"	""	"0"	""	""	""	""
"00002423"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}, {PMID:Wieczorek 2009:19334086}"	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00002424"	""	""	""	"1"	""	"00076"	"{PMID:Lines 2012:22305528}, {PMID:Guion-Almeida 2006:16760738}"	""	"M"	"no"	"? (unknown)"	""	"0"	""	""	""	""
"00002427"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis Goldenhar syndrome and oesophageal atresia"	"F"	"?"	"? (unknown)"	""	"0"	""	""	""	""
"00002428"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of VATER"	"M"	"?"	"France"	""	"0"	""	""	""	""
"00002429"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of oculoauriculovertebral spectrum and oesophageal atresia"	"?"	"?"	"France"	""	"0"	""	""	""	""
"00002430"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}, {PMID:de Pontual 2011:21892160}"	"initial diagnosis of Feingold syndrome"	"F"	"?"	"France"	""	"0"	""	""	""	""
"00002433"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of Feingold syndrome"	"?"	"?"	"France"	"12y"	"0"	""	""	""	""
"00002434"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE snydrome"	"M"	"?"	"France"	""	"0"	""	""	""	""
"00002436"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE syndrome"	"?"	"?"	"France"	""	"0"	""	""	""	""
"00002437"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE syndrome"	"?"	"?"	"France"	""	"0"	""	""	""	""
"00002438"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE syndrome"	"?"	"?"	"France"	""	"0"	""	""	""	""
"00002439"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE syndrome"	"?"	"?"	"France"	""	"0"	""	""	""	""
"00002442"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE syndrome"	"F"	"?"	"France"	""	"0"	""	""	""	""
"00002443"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of Feingold syndrome"	"F"	"?"	"France"	""	"0"	""	""	""	""
"00002452"	""	""	""	"1"	""	"00076"	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	"initial diagnosis of CHARGE syndrome"	"?"	"?"	"France"	""	"0"	""	""	""	""
"00002453"	""	""	""	"1"	""	"00076"	"{PMID:Bernier 2012:22541558}"	"initial diagnosis of Nager syndrome"	"?"	"?"	"? (unknown)"	""	"0"	""	""	""	""
"00002456"	""	""	""	"1"	""	"00076"	"{PMID:Luquetti 2012:23239648}"	""	"M"	"?"	"? (unknown)"	""	"0"	""	""	""	""
"00002602"	""	""	""	"1"	""	"00076"	"{PMID:Voigt 2013:23879989}; {PMID: Wieczorek 2013:17497718}"	""	"F"	"no"	"(Germany)"	""	"0"	""	""	""	""
"00002603"	""	""	""	"1"	""	"00076"	"{PMID:Voigt et al 2013:23879989}; {PMID:Wieczorek D et al 2007:17497718}"	"brother of individual #00002602"	"M"	"no"	"(Germany)"	""	"0"	""	""	""	""
"00002604"	""	""	""	"1"	""	"00076"	"{PMID:Voigt 2013:23879989}; {PMID:Wieczorek et al.2007:17497718}"	"mother of individual #00002602 and #00002603"	"F"	"no"	"(Germany)"	""	"0"	""	""	""	""
"00002606"	""	""	""	"1"	""	"00076"	"{PMID:Voigt 2013:23879989}; {PMID:Megarbane et al.2005:15633182}"	""	"M"	"yes"	"(Germany)"	""	"0"	""	""	""	""
"00002607"	""	""	""	"1"	""	"00076"	"{PMID:Voigt 2013:23789989}, {PMID:Megarbane et al.2005:15633182}"	"sister of individual #00002606"	"F"	"yes"	"(Germany)"	""	"0"	""	""	""	""
"00002621"	""	""	""	"1"	""	"00076"	"{PMID:Voigt et al 2013:23879989}"	""	"M"	"no"	"(Germany)"	""	"0"	""	""	""	""
"00002622"	""	""	""	"1"	""	"00076"	"{PMID:Voigt 2013:23879989}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00002629"	""	""	""	"1"	""	"00076"	"{PMID:Voigt 2013:23879989}"	""	"F"	"no"	"(Germany)"	""	"0"	""	""	""	""
"00004131"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004132"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004133"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004134"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004135"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004136"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004137"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004138"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004139"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004140"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004141"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004142"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004143"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004144"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004145"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004146"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004147"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004148"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	"EFTUD2 variant inherited from affected mother"	""	""	""	""	"0"	""	""	""	""
"00004149"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	"Mother of case 27 in Lehalle et al 2014"	""	""	""	""	"0"	""	""	""	""
"00004150"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004151"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004152"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004153"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	""	""	""	""	""	"0"	""	""	""	""
"00004154"	""	""	""	"1"	""	"00567"	"Lehalle et al 2014"	"EFTUD2 variant inherited from affected mother (= \"Mother of case 11\" in Gordon et al 2012)."	""	""	""	""	"0"	""	""	""	""
"00011460"	""	""	""	"1"	""	"00076"	"{PMID:Need 2012:22581936}"	""	"M"	"?"	"India"	""	"0"	""	""	""	""
"00011461"	""	""	""	"1"	""	"00076"	"{PMID:Need 2012:22581936}"	""	"M"	"?"	""	""	"0"	""	""	"European-American"	""
"00038826"	""	""	""	"1"	""	"00076"	"Huang 2015"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00046331"	""	""	""	"1"	""	"00076"	"{PMID:Gandoni 2015:24266672}, {DOI:Gandoni 2015:10.1111/cge.12328}"	"female dizygotic twin neonate"	"F"	"?"	"United States"	""	"0"	""	""	""	""
"00050501"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00104572"	""	""	""	"1"	""	"02011"	""	""	"M"	"no"	"Czech Republic"	""	"0"	""	""	"white"	""
"00180152"	""	""	""	"1"	""	"00006"	"{PMID:Tumienė 2018:29286531}"	""	""	""	"(Slovenia)"	""	"0"	""	""	""	"29286531-Pat04"
"00289358"	""	""	""	"1"	""	"03611"	""	""	"M"	"no"	"Korea, South (Republic)"	""	"0"	""	""	""	""
"00295671"	""	""	""	"1"	""	"03633"	"{DOI:Thomas 2020:10.1002/humu.24027}"	"male patient"	"M"	"?"	""	""	"0"	""	""	""	"T143I"
"00295672"	""	""	""	"1"	""	"03633"	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	"M"	"no"	""	""	"0"	""	""	"European"	"G207E"
"00295673"	""	""	""	"1"	""	"03633"	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	"M"	""	""	""	"0"	""	""	""	"N286S"
"00295675"	""	""	""	"1"	""	"03633"	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	"M"	"yes"	""	""	"0"	""	""	"African"	"Q383H"
"00295676"	""	""	""	"1"	""	"03633"	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	"F"	""	""	""	"0"	""	""	""	"P778S"
"00295704"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00301405"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00303257"	""	""	""	"1"	""	"03693"	"Not published"	"Maternal uncle to proband with T21. Otherwise, non-contributory family history; EFTUD2 Related Disorders (Mandibulofacial dysostosis with microcephaly)"	"F"	"no"	"United States"	"00y04m"	"0"	"yes"	"Early Childhood Intervention"	"Maternal (Mexico) Paternal (Honduras)"	"UTH_1"
"00306214"	""	""	""	"1"	""	"03695"	""	""	"F"	""	"China"	""	"0"	""	""	""	"115"
"00311387"	""	""	""	"2"	""	"00006"	"{PMID:Granadillo 2020:32152250}"	"2-generation family,  affected father/son"	"M"	""	""	""	"0"	""	""	"white"	"Pat5"
"00412363"	""	""	""	"1"	""	"00006"	"{PMID:Halvardson 2016:27334371}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"Fam7"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 83
"{{individualid}}"	"{{diseaseid}}"
"00001633"	"00124"
"00001634"	"00124"
"00001635"	"00124"
"00001636"	"00124"
"00001637"	"00124"
"00002418"	"00124"
"00002419"	"00124"
"00002420"	"00124"
"00002421"	"00124"
"00002422"	"00124"
"00002423"	"00124"
"00002424"	"00124"
"00002427"	"00124"
"00002428"	"00124"
"00002429"	"00124"
"00002430"	"00124"
"00002433"	"00124"
"00002434"	"00124"
"00002434"	"00193"
"00002436"	"00124"
"00002436"	"00193"
"00002437"	"00124"
"00002437"	"00193"
"00002438"	"00193"
"00002439"	"00124"
"00002439"	"00193"
"00002442"	"00124"
"00002442"	"00193"
"00002443"	"00124"
"00002452"	"00124"
"00002452"	"00193"
"00002456"	"00124"
"00002602"	"00124"
"00002603"	"00124"
"00002604"	"00124"
"00002606"	"00124"
"00002607"	"00124"
"00002621"	"00124"
"00002622"	"00124"
"00002629"	"00124"
"00004131"	"00124"
"00004132"	"00124"
"00004133"	"00124"
"00004134"	"00124"
"00004135"	"00124"
"00004136"	"00124"
"00004137"	"00124"
"00004138"	"00124"
"00004139"	"00124"
"00004140"	"00124"
"00004141"	"00124"
"00004142"	"00124"
"00004143"	"00124"
"00004144"	"00124"
"00004145"	"00124"
"00004146"	"00124"
"00004147"	"00124"
"00004148"	"00124"
"00004149"	"00124"
"00004150"	"00124"
"00004151"	"00124"
"00004152"	"00124"
"00004153"	"00124"
"00004154"	"00124"
"00011460"	"00124"
"00011461"	"00124"
"00038826"	"00198"
"00046331"	"00124"
"00050501"	"00198"
"00104572"	"00124"
"00180152"	"00198"
"00289358"	"00124"
"00295671"	"00124"
"00295672"	"00124"
"00295673"	"00124"
"00295675"	"00124"
"00295676"	"00124"
"00295704"	"00198"
"00301405"	"00198"
"00303257"	"00124"
"00306214"	"00124"
"00311387"	"05611"
"00412363"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00124, 00139, 00193, 00198, 05611
## Count = 47
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Choanal_stenosis}}"	"{{Phenotype/Growth/Height_SDS}}"	"{{Phenotype/Mouth/Cleft_palate}}"	"{{Phenotype/Seizures}}"	"{{Phenotype/Vision/Coloboma}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Eye/Ball}}"	"{{Phenotype/Fistula}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000000799"	"00124"	"00001633"	"00076"	"Isolated (sporadic)"	""	"Paternal age of 35y; Birth head circumference of 30.5/-1.75SD; Malar hypoplasia; Micrognathia; Upslanting of the obliquity of palpebrae; Microtia; Preauricular tag; Conductive hearing loss;  Choanal atresia; Need for neonatal resuscitation; Tracheostomy; Global developmental delay; Walking at 28m; Unable to talk at last assessment at 36m;  Normal brain MRI; Gastrostomy; Metopic ridge; proximally placed thumb; Cryptorchidism and small scrotum"	""	"37w; weight 2150 (-2)"	""	"normal; normal; -3.5"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000000800"	"00124"	"00001634"	"00006"	"Isolated (sporadic)"	""	"Paternal age of 26; Malar hypoplasia; Micrognathia; Downslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Sensorineural hearing loss; Bifid uvula; Need for neonatal resuscitation; Global developmental delay; Metopic ridge; Congenital heart defect(ASD); Proximally placed thumb; Crypotorchidism and small scrotum"	""	"39w; weight 2400 (-2.5)"	""	"71cm (-3); 8kg (-3.5); 43cm (-3)"	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000000801"	"00124"	"00001637"	"00076"	"Isolated (sporadic)"	""	"Birth head circumference of 33cm/-2SD; Malar hypoplasia; Micrognathia; Upslanting obliquity of palpebrae; Lower-eyelid cleft; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Bilateral choanal atresia; Mild to moderate global developmental delay; Walking at 16m; Speaking at 24m; Delayed myelination at 15m; Metopic ridge; Congenital heart defect(ASD); Hypoplastic toenails and delayed bone age; Normal microarray fining"	""	"42w; weight 3180 (-1.5)"	""	"122cm (-1); 24kg (0); 47cm (-3.5)"	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000000802"	"00124"	"00001635"	"00076"	"Isolated (sporadic)"	""	"Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/ stenosis; Conductive hearing loss; Bilateral choanal atresia; Need for neonatal resuscitation; Moderate global developmental delay; Walking at 24m; First words at 30m; Mild peripheral pulmonic stenosis; 46,XX; Normal microarray findings"	""	"33w; weight 1500 (-1.5)"	""	"118cm (-1); 24kg (0); 42.5cm (-6)"	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000000803"	"00124"	"00001636"	"00076"	"Isolated (sporadic)"	""	"IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX"	""	"40w; weight 2610 (-2)"	""	"87cm (-1.75); 13.4Kg (+0); 43.5cm (-4)"	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001396"	"00124"	"00002418"	"00076"	"Isolated (sporadic)"	""	"Paternal age of 31y;Birth OFC of 32.5cm/-2SD; Malar hypoplasia; Micrognathia; downslanting obliquity of palpebrae; Microtia; Auditory canal atresia or stenosis; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 24m; 46,XX; normal microarray finding"	""	"41+3w; weight 3870 (+0.5)"	""	"84cm (-0.25); 10.3kg (-2); 42cm (-5)"	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001397"	"00124"	"00002419"	"00076"	"Isolated (sporadic)"	""	"paternal age of 25y; full term gestation; Malar hypoplasia; Micrognathia; obliquity of palpebrae; Microtia; preauricula tags; midline cleft palate including submucous; severe global developmental delay; walking at 60m; mdtopic ridge; ASD; duplicated thumb; 46,XY"	""	"weight 3500"	""	"151cm (-1.25); 38kg (-1.5); 50cm (-3)"	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001398"	"00124"	"00002420"	"00076"	"Isolated (sporadic)"	""	"birth OFC of 33cm/-1SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; lower-eyelid cleft; microtia; unilateral preauricular tags; bilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; walking at 19m; abnormal white matter on FLAIR; ASD; 46,XY; normal microarray findings"	""	"40w; weight 3000 (-1)"	""	"89cm (-0.75); 12.7kg (-0.75); 44.5cm (-4)"	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001399"	"00124"	"00002421"	"00076"	"Isolated (sporadic)"	""	"polyhydramnios; birth OFC of 31cm/-3.5SD; micrognathia; level obliquity of palpebrae; bilateral lower-eyelid cleft; unilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; ASD; 46,XX"	""	"41+4w; weight 3330 (-1)"	""	"69cm (-2); 6.72kg (-4); 39.8kg (-5)"	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001400"	"00124"	"00002422"	"00076"	"Isolated (sporadic)"	""	"increased NT; malar hypoplasia; micrognathia; level obliquity of palpebrae; unilateral preauricular tags; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 19m; metopic ridge; proximally placed thumb; 46,XY; normal microarray findings"	""	"42w; weight 3161 (-1.5)"	""	"116.6cm (-1.5); 22.6kg (-3); 46.4cm (-3)"	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001401"	"00124"	"00002423"	"00076"	"Isolated (sporadic)"	""	"increased NT and microcephaly; birth OFC of 30cm/-3SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; microtia; bilateral preauricular tags; unilateral auditory canal atresia or stenosis; conductive hearing loss; unilateral choanal atresia; mild global developmental delay; walking at 24m; first words at 20m; normal brain MRI; gastrostomy; proximally placed thumb; myopia; middle ear and vestibular hypoplasia; 46,XX"	""	"weight 2850 (-1.25)"	""	"117.4cm (0); 22.5kg (0); 43.8cm (-5)"	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001402"	"00124"	"00002424"	"00076"	"Isolated (sporadic)"	""	"paternal age of 28y; full term gestation; malar hypoplasia; micrognathia; one downslanting obliquity of palpebrae; microtia; preauricular tags; midline cleft palate including submucous; moderate to severe global developmental delay; walking at 17m; first words at 24m; mitopic ridge; 46,XY"	""	"weight 3100"	""	"131cm (-1); 24kg (-2); 48cm (-3.5)"	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001404"	"00124"	"00002427"	"00076"	"Isolated (sporadic)"	""	"polyhydramnios; birth length of 0/1.5SD; birth head circumference of -0.5/+0.5SD; weight at 8y of +2SD; length at 8y of +2SD; head circumference at 8y of -1SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; cleft palate; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss;hypermetropic astigmatism; moderate delayed psycho/motor develoment; oesophageal atresia; laryngeal diastema and asymptomatic bilateral vesico-ureteral reflux;"	""	"37-41w"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001405"	"00124"	"00002428"	"00076"	"Isolated (sporadic)"	""	"pre-eclampsia; polyhydramnios; birth head circumference of -1SD; weight at 5m of -3SD; head circumference at 5m of -3SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic cup-shaped external ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; patent ductus arteriosus; oesophageal atresia; unilateral pelvic kidney; 46,XY"	""	"34w; weight (-1.5)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001406"	"00124"	"00002429"	"00076"	"Isolated (sporadic)"	""	"hydramnios; birth head circumference of +0.5SD; weight at 13m of -2.5SD; height at 13m of -2.5SD; head circumference of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic low-set ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; ASD; oesophageal atresia; normal karyotype"	""	"36w; weight (-1)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001407"	"00124"	"00002430"	"00076"	"Isolated (sporadic)"	""	"IUGR; adult weight of 0SD; adult height of 0SD; adult head circumference of -2SD; facial asymmetry; mandibular hypoplasia; asymmetric dysplasia of external ears; moderate delayed psycho/motor development; 2/3 toe syndactyly; thenar hypoplasia; oesophageal atrisia type C; normal array-CGH (Agilent 105K); normal sequence of MYCN and MIR17HG genes"	""	"36.5w; weight (-1.5)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001408"	"00124"	"00002433"	"00076"	"Isolated (sporadic)"	""	"birth height<-2SD; birth head circumference of -3SD; weight at 10y of -2SD; height at 10y of -1SD; head circimference at 10y of -4SD; malar hypoplasia; mandibular hypoplasia; dysplastic ears; auditory canal atresia/stenosis; mixed hearing loss; mild delayed psycho/motor development; oesophageal atresia type C; cryptochidism; lacrymal duct stenosis;"	""	"39w; weight (-1)"	""	""	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001409"	"00124"	"00002434"	"00076"	"Isolated (sporadic)"	""	"polyhydramnios; birth length of -1SD; birth head circumference<-2; weight at 8y of +1SD; height at 8y of +1SD; head circimference at 8y<-4SD; mild malr hypoplasia; mild mandibular hypoplasia; cleft palate(submucous); dysplastic external ears; conductive hearing loss; epicanthic folds; mild delayed psycho/motor development; oesophageal atresia type C; unilateral lateral semicircular canal agenesis;"	""	"35.5w; weight (<-2)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001411"	"00124"	"00002436"	"00076"	"Isolated (sporadic)"	""	"polyhydramnios; birth height of 0SD; birth head circumference of -2SD; weight at 4y of +1SD; height at 4y of 0SD; head circumference at 4y of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic external ears; bilateral auditory canal atresia/stenosis; sensorineural hearing loss; moderate delayed psycho/motor development; oesophageal atresia; lateral semicircular canal agenesis"	""	"35+4w; weight (-1)"	"+"	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001412"	"00124"	"00002437"	"00076"	"Unknown"	""	"IUGR; weight at 11y of +1SD; height at 11y of +3SD; head circumference at 11y<-4SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; auditory canal stresia/stenosis; moderate delayed psycho/motor development; ASD; genital anomalies; tooth agenesis"	""	""	"+"	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001413"	"00124"	"00002439"	"00076"	"Unknown"	""	"birth height of -2SD; birth head circumference of -3SD; weight at 7y of +1SD; height at 7y of -1.5SD; head circumference at 7y of -2SD; malar hypoplasia; mandibular hypoplasia; microtia; unilateral auditory canal atresia/stenosis; sensorineural hearing loss; strabismus; moderate delayed psycho/motor development; pectus carinatum"	""	"41+3w; weight (-2)"	"-"	""	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001414"	"00124"	"00002442"	"00076"	"Familial, autosomal dominant"	""	"termination of pregnancy at 29.5w; weight of -1SD; head circumference of -1.5SD; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; oesophageal atresia  type C; delayed gyration and retro thyoid thymic residues"	""	"29.5w"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001415"	"00124"	"00002443"	"00076"	"Isolated (sporadic)"	""	"birth height of 0/-1.5SD; adult weight of 0SD; adult height of -1SD; adult head circumference<-2SD; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss; milder delayed psycho/motor development; brachydactyly; abnormal semicircular canal"	""	"37-41w"	"-"	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001418"	"00124"	"00002452"	"00076"	"Unknown"	""	"polyhydramnios; IUGR; birth head circumference of 0SD; weight at 2.5y of +0.5SD; height at 2.5y of +1SD; head circumference at 2.5y of +1SD; cayler facial asymmetry; unilateral microtia; unilateral auditory canal atresia/stenosis; unilateral hearing loss; ASD; VSD; unilateral thumb hypoplasia; oesophageal atresia type C; abnormal ossicles and semicircular canals; agenesis of first cervical vertebrae; kyphoscoliosis and sacral dimple"	""	"38w; weight (-2)"	"-"	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001419"	"00124"	"00002456"	"00076"	"Isolated (sporadic)"	""	"OFC of 51.8cm/-1SD; height of 137.6/-1SD; facial asymmetry; choanal atresia; left epibulbar dermoid; unilateral cleft of zygomatic arch; bilateral microtia (grade 3); bilateral preauricular skin tags; atretic external auditory canal; conductive hearing loss; normal inner ear; hypoplastic/dysplastic ossicles; mandibular hypoplasia; malar hypoplasia; micrognathia (asymmertric); bifid uvula; proximally placed thumb; normal cervical spine; cooperative personality; answer questions appropriately; no unusual behaviors; mild developmental delay"	""	"weight 2693 (-2)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001565"	"00124"	"00002602"	"00076"	"Familial, autosomal dominant"	""	"polyhydramnios; birth height 51cm/-0.8SD; birth OFC 34cm/-0.6SD; height at 21y 158cm/-1.5SD; weight at 21y 63kg/0.5SD; OFC at 21y 51cm/-3.7SD; ID with IQ 75; walking at 16m; first word at 16m; upslanting palpebral fissures; microtia with squared earlobe; bilateral conductive hearing loss; reduced mouth opening; micrognathia; esophageal atresia; ASD; scoliosis; bilateral cleft of zygomatic bone; clinodactyly V"	""	"41w; weight 3010 (-1.4)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001566"	"00124"	"00002603"	"00076"	"Familial, autosomal dominant"	""	"polyhydramnios; weight at 8y7m 25kg/-2.4SD; height at 8y7m 128cm/-2.4SD; OFC at 8y7m 46cm/-5.9SD; severe ID; walking at 39m; microtia with squared earlobe; aplasia/hypoplasia of external ear canal; bilateral combined hearing loss; cleft palate; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; VSD; bilateral cleft of zygomatic bone"	""	"34w; weight 2010 (-0.4)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001568"	"00124"	"00002604"	"00076"	"Unknown"	""	"height at adulthood 165cm/-0.2SD; weight at adulthood 58kg/-1.0SD; OFC at adulthood 53.5cm/-1.0SD; facial asymmetry; nasal speech; reduced mouth opening; unilateral cleft of zygomatic bone"	""	"weight (-1.5)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001569"	"00124"	"00002606"	"00076"	"Unknown"	""	"polyhydramnios;birth height 48cm/-1.7SD; birth OFC 32cm/-2.2SD; Height at 8y 114.5cm/-2.6SD; weight at 8y21kg/-1.6SD; OFC at 8y 46cm/-5.5SD; mild ID; walking at 30m; first words at 36m; hyperplastic supraorbital ridges; frontal bossing upslanting palpebral fissures; microtia with squared earlobe; hypoplasia of external ear canal; bilateral conductive hearing loss; esophageal atresia; small middle ear cavity; abnormal malleolus"	""	"40w; weight 2500 (-2.3)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001570"	"00124"	"00002607"	"00076"	"Unknown"	""	"polyhydramnios; height at 2.5y 84.5cm/-1.91SD; weight at 2.5y 11kg/-1.3SD; OFC at 2.5y 43.4cm/-5.3SD; mild ID; walking at 24m; first words at 30m; hyperplastic supraorbital ridges; frontal bossing; upslanting palpebral fissures; microtia with squared earlobe; cleft palate; micrognathia; absence of middle ear pneum; hypoplasia of malleus and incus"	""	"40w; weight 4000 (1.3)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001582"	"00124"	"00002621"	"00076"	"Isolated (sporadic)"	""	"polyhydramnios; birth height 52cm/-0.2SD; birth OFC 34cm/-1.2SD; height at 7y4m 126cm/0.1SD; weight at 7y4m 22.5kg/-0.6SD; OFC at 7y4m 47.5cm/-3.9SD; moderate ID; walking at 21m; words at 30m; upslanting palpebral ridges; microtia with squared earlobe; narrow external ear canal; cleft palate; micrognathia; esophageal atresia; VSD; bilateral cleft of zygomatic bone;"	""	"40w; weight 3180 (-1.0)"	""	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001583"	"00124"	"00002622"	"00076"	"Isolated (sporadic)"	""	"birth height 49cm/-0.5SD; birth OFC 34cm/-0.4cm; height at 3.5y 98cm/0SD; weight at 3.5y 14.6kg/-0.2SD; 45cm/-3.3SD; moderate ID; walking at 36m; first words at 24m; hyperplastic supraorbital ridges; sloping forehead; microtia with squared earlobe; preauricular tag; preauricular pit; hypoplasia of external ear canal; hearing loss; reduced mouth opening; micrognathia; slightly proximal placed thumbs"	""	"38w; weight 3600 (0.5)"	""	""	""	"seizures"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001592"	"00124"	"00002629"	"00076"	"Isolated (sporadic)"	""	"polyhydramnios; birth OFC 32.3cm/-1SD; height at 4.5y 100.7cm/-1.6SD; weight at 4.5y 18.2kg/1SD; OFC at 4.5y 46.6cm/-3.3SD; mild ID; walking at 18m; first words at 12m; mild facial asymmetry; down slanting palpebral fissures; microtia with squared earlobe; hypoplasia of exteral ear canal; conductive hearing loss; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; small middle ear cavity; normal cochlea and semicircular canals; 46,XX; normal FISH 22q; normal SNP array"	""	"37w; weight 2900 (0)"	"+"	""	""	"no"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000010161"	"00124"	"00011460"	"00076"	"Isolated (sporadic)"	""	"Developmental delay, possible autism, microcephaly, dysmorphic features, spine abnormalities, sensorineural hearing loss"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000010162"	"00124"	"00011461"	"00076"	"Isolated (sporadic)"	""	"microcephaly, facial asymmetry, acyanotic tetralogy of Fallot, history of small muscular ventricular septal defect, right aortic arch with mirror image branching, malformed right ear with hearing loss, bifid uvula, cleft soft palate"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034214"	"00124"	"00046331"	"00076"	"Isolated (sporadic)"	""	"see paper; born 36w gestation, intrauter-\r\nine growth retardation, ..."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037113"	"00198"	"00050501"	"00006"	"Isolated (sporadic)"	""	"abnormality of the epiphyses of the distal phalanx of finger, hypoplasia of right ventricle, abnormality of the cardiovascular system, defect in the atrial septum, global developmental delay, strabismus, microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082487"	"00124"	"00104572"	"02011"	"Isolated (sporadic)"	"08y"	"intellectual disability, speech delay, growth retardation, epilepsy, hypotonia, shorter fifth digits on hands, facial dysmorphism"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000142606"	"00198"	"00180152"	"00006"	"Familial, autosomal dominant"	""	"atypical presentation; pharmacoresistant epilepsy (HP:0001250), developmental delay (HP:0001263)."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"MFDGA"	"epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations"	""
"0000223254"	"00198"	"00295704"	"01807"	"Unknown"	""	"Single transverse palmar crease (HP:0000954)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000223295"	"00124"	"00295671"	"03633"	"Isolated (sporadic)"	""	"born with normal birth parameters, uneventful pregnancy; micrognathia, anteverted ears, bulbous nasal tip, epicanthus; feeding difficulties, developed rapidly progressive postnatal microcephaly; 12m-head circumference -4 SD, premature closure metopic ridge; walk-21m, language delayed, attended school with special needs; normal hearing, MRI brain normal"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000228583"	"00198"	"00301405"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Seizures (HP:0001250); Mandibulofacial dysostosis (HP:0005321); Congenital microcephaly (HP:0011451)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000230366"	"00124"	"00303257"	"03693"	"Isolated (sporadic)"	"00y02m"	"Hypoplasia of the maxilla (HP:0000327)\r\nFeeding difficulties HP:0011968\r\nPreauricular skin tag HP:0000384\r\nMandibulofacial dysostosis HP:0005321\r\nPostnatal microcephaly HP:0005484\r\nCleft palate HP:0000175\r\nHypertelorism HP:0000316\r\nFacial Hemangioma: HP:0000329\r\nMicroretrognathia- HP:0000308\r\nUnderdeveloped Supraorbital ridges HP:0009891\r\nSloping forehead HP:0000340\r\nFacial Asymmetry HP: 0000324\r\nClinodactyly of the 5th toe (B/L) HP0001864\r\nOverlapping toes (B/L): HP:0001845\r\nCup, Simplified Ear (R only) HP:0000378"	"00y00m"	"39w4d, Vaginal Delivery, Apgars 9/9, 1 week NICU stay for cleft palate and poor feeding; Wt: 2.91 kg (10-25th) Lt: 50 cm (50th), FOC: 33 cm (25th)"	"-"	"Weight: 4.4kg (10-25th percentile) Length: 56.1cm (50th percentile) Head circumference: 36cm (3rd percentile)"	""	"no"	""	"00y04m"	"0m"	""	""	""	""	""	""	""	"MFDM"	"Cleft Palate, Pierre Robin Sequence"	""
"0000232062"	"00124"	"00306214"	"03695"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000232063"	"00124"	"00306214"	"03695"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236634"	"05611"	"00311387"	"00006"	"Familial, autosomal dominant"	"6y"	"birth weight 2.44 Kg (5th %ile), length normal, OFC 30 cm (<2.5th%ile); normal height, normal weight, OFC -4.26; developmental delay/intellectual disability, 4y10m-developmental age 20m; gross motor delay, fine motor delay, walk-36m; speech delay; autistic features, no attention deficit hyperactivity disorder, aggressiveness; hypotonia; no sleep problems; bilateral sensorineural hearing loss reverse cookie bitepattern; intermittent esotropia; no musculoskeletal anomalies; triangular face, prominent and broad forehead, prominent glabella, upswept frontal hairline, downslanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, small ears, posteriorly rotated ears, low set ears, anteverted nares with broad and rounded tip, broad and high nasal bridge, micrognathia, thin upper lip, narrow palate with torus; GERD, aspiration, GT placed, constipation, dysphagia; MRI brain normal; ECG atrial septal defect, PDA, polyvalvular dysplasia, hypoplastic abdominal aorta, abnormal origin R coronary artery; renal ultrasound small L nephrolithiasis, mild R pelvicaliectasis; inguinal hernia, hydrocele, sacral dimple, torticollis; both parent have intellectual disability, father has similar facial features"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000304368"	"05611"	"00412363"	"00006"	"Isolated (sporadic)"	""	"moderate intellectual disability, autism, atypical absence seizures that developed to atonic seizures and eventually generalized tonic clonic seizures, microcephaly, thin corpus callosum, feeding difficulties since infacy, growth retardation, low hairline, synophrys, hypertelorism, bulbous nose tip, micrognathia, small ears,  fifth toe clinodactyly, tapered feet and toes, supratentorial wide ventricles, thin corpus callosum"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"intellectual disability, epilepsy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 78
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001433"	"00001633"	"1"	"00076"	"00076"	"2013-07-28 03:47:35"	"00076"	"2013-07-28 16:16:40"	"arrayCNV;SEQ;SEQ-NG-I"	"DNA"	""	""
"0000001434"	"00001634"	"1"	"00006"	"00006"	"2013-07-28 14:45:48"	""	""	"SEQ"	"DNA"	""	""
"0000001435"	"00001635"	"1"	"00006"	"00006"	"2013-07-28 14:55:45"	""	""	"SEQ"	"DNA"	""	""
"0000001436"	"00001636"	"1"	"00006"	"00006"	"2013-07-28 14:59:43"	""	""	"arrayCNV"	"DNA"	""	""
"0000001437"	"00001637"	"1"	"00076"	"00076"	"2013-07-28 16:05:30"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000002292"	"00002418"	"1"	"00076"	"00076"	"2013-09-01 17:30:11"	""	""	"SEQ"	"DNA"	""	""
"0000002293"	"00002419"	"1"	"00076"	"00076"	"2013-09-01 17:45:48"	""	""	"SEQ"	"DNA"	""	""
"0000002294"	"00002420"	"1"	"00076"	"00076"	"2013-09-01 17:56:22"	""	""	"SEQ"	"DNA"	""	""
"0000002295"	"00002421"	"1"	"00076"	"00076"	"2013-09-01 18:15:06"	""	""	"SEQ"	"DNA"	""	""
"0000002296"	"00002422"	"1"	"00076"	"00076"	"2013-09-01 22:33:18"	""	""	"SEQ"	"DNA"	""	""
"0000002297"	"00002423"	"1"	"00076"	"00076"	"2013-09-01 22:54:59"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000002298"	"00002424"	"1"	"00076"	"00076"	"2013-09-01 23:10:32"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000002301"	"00002427"	"1"	"00076"	"00076"	"2013-09-04 23:21:25"	""	""	"arrayCGH"	"DNA"	""	""
"0000002302"	"00002428"	"1"	"00076"	"00076"	"2013-09-05 02:32:26"	""	""	"arraySNP"	"DNA"	""	""
"0000002303"	"00002429"	"1"	"00076"	"00076"	"2013-09-05 02:48:23"	""	""	"SEQ"	"DNA"	""	""
"0000002304"	"00002430"	"1"	"00076"	"00076"	"2013-09-05 03:05:45"	""	""	"SEQ"	"DNA"	""	""
"0000002309"	"00002433"	"1"	"00076"	"00076"	"2013-09-05 17:45:51"	""	""	"arrayCGH;SEQ"	"DNA"	""	""
"0000002310"	"00002434"	"1"	"00076"	"00076"	"2013-09-05 18:00:19"	""	""	"SEQ"	"DNA"	""	""
"0000002312"	"00002436"	"1"	"00076"	"00076"	"2013-09-05 19:41:46"	""	""	"SEQ"	"DNA"	""	""
"0000002313"	"00002437"	"1"	"00076"	"00076"	"2013-09-05 19:51:29"	""	""	"SEQ"	"DNA"	""	""
"0000002314"	"00002438"	"1"	"00076"	"00076"	"2013-09-05 20:22:50"	""	""	"SEQ"	"DNA"	""	""
"0000002315"	"00002439"	"1"	"00076"	"00076"	"2013-09-05 20:52:26"	""	""	"SEQ"	"DNA"	""	""
"0000002316"	"00002442"	"1"	"00076"	"00076"	"2013-09-05 21:05:00"	""	""	"SEQ"	"DNA"	""	""
"0000002317"	"00002443"	"1"	"00076"	"00076"	"2013-09-05 21:16:09"	""	""	"SEQ"	"DNA"	""	""
"0000002326"	"00002452"	"1"	"00076"	"00076"	"2013-09-05 21:27:26"	""	""	"SEQ"	"DNA"	""	""
"0000002327"	"00002453"	"1"	"00076"	"00076"	"2013-09-05 22:42:12"	""	""	"SEQ"	"DNA"	""	""
"0000002328"	"00002456"	"1"	"00076"	"00076"	"2013-09-05 23:16:54"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000002478"	"00002602"	"1"	"00076"	"00076"	"2013-09-10 09:40:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000002479"	"00002603"	"1"	"00076"	"00076"	"2013-09-10 10:13:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000002480"	"00002604"	"1"	"00076"	"00076"	"2013-09-10 10:23:29"	"00076"	"2013-09-10 10:29:46"	"SEQ"	"DNA"	""	""
"0000002482"	"00002606"	"1"	"00076"	"00076"	"2013-09-10 13:58:41"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000002484"	"00002607"	"1"	"00076"	"00076"	"2013-09-10 14:38:09"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000002498"	"00002621"	"1"	"00076"	"00076"	"2013-09-10 16:22:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000002499"	"00002622"	"1"	"00076"	"00076"	"2013-09-10 16:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000002509"	"00002629"	"1"	"00076"	"00076"	"2013-09-10 17:24:24"	""	""	"SEQ"	"DNA"	""	""
"0000004057"	"00004131"	"1"	"00567"	"00567"	"2013-12-30 02:11:29"	""	""	"SEQ"	"DNA"	""	""
"0000004058"	"00004132"	"1"	"00567"	"00567"	"2013-12-30 02:44:44"	""	""	"SEQ"	"DNA"	""	""
"0000004059"	"00004133"	"1"	"00567"	"00567"	"2013-12-30 03:09:06"	""	""	"SEQ"	"DNA"	""	""
"0000004060"	"00004134"	"1"	"00567"	"00567"	"2013-12-30 03:23:28"	""	""	"SEQ"	"DNA"	""	""
"0000004061"	"00004135"	"1"	"00567"	"00567"	"2013-12-30 09:48:37"	""	""	"SEQ"	"DNA"	""	""
"0000004063"	"00004137"	"1"	"00567"	"00567"	"2013-12-30 10:18:40"	""	""	"SEQ"	"DNA"	""	""
"0000004064"	"00004138"	"1"	"00567"	"00567"	"2013-12-30 10:26:24"	""	""	"SEQ"	"DNA"	""	""
"0000004065"	"00004139"	"1"	"00567"	"00567"	"2013-12-30 10:36:53"	""	""	"SEQ"	"DNA"	""	""
"0000004066"	"00004140"	"1"	"00567"	"00567"	"2013-12-30 10:46:27"	""	""	"SEQ"	"DNA"	""	""
"0000004067"	"00004141"	"1"	"00567"	"00567"	"2013-12-30 10:57:54"	""	""	"SEQ"	"DNA"	""	""
"0000004068"	"00004136"	"1"	"00567"	"00567"	"2013-12-30 11:08:45"	""	""	"SEQ"	"DNA"	""	""
"0000004069"	"00004142"	"1"	"00567"	"00567"	"2013-12-30 11:31:53"	""	""	"SEQ"	"DNA"	""	""
"0000004070"	"00004143"	"1"	"00567"	"00567"	"2013-12-30 12:03:39"	""	""	"SEQ"	"DNA"	""	""
"0000004071"	"00004144"	"1"	"00567"	"00567"	"2013-12-30 12:13:54"	""	""	"SEQ"	"DNA"	""	""
"0000004072"	"00004145"	"1"	"00567"	"00567"	"2013-12-30 12:20:13"	""	""	"SEQ"	"DNA"	""	""
"0000004073"	"00004146"	"1"	"00567"	"00567"	"2013-12-30 12:29:52"	""	""	"SEQ"	"DNA"	""	""
"0000004074"	"00004147"	"1"	"00567"	"00567"	"2013-12-30 12:35:00"	""	""	"SEQ"	"DNA"	""	""
"0000004075"	"00004148"	"1"	"00567"	"00567"	"2013-12-30 12:43:23"	""	""	"SEQ"	"DNA"	""	""
"0000004076"	"00004149"	"1"	"00567"	"00567"	"2013-12-30 12:50:06"	""	""	"SEQ"	"DNA"	""	""
"0000004077"	"00004150"	"1"	"00567"	"00567"	"2013-12-30 12:55:06"	""	""	"SEQ"	"DNA"	""	""
"0000004078"	"00004151"	"1"	"00567"	"00567"	"2013-12-30 12:58:18"	""	""	"SEQ"	"DNA"	""	""
"0000004079"	"00004152"	"1"	"00567"	"00567"	"2013-12-30 13:02:21"	""	""	"SEQ"	"DNA"	""	""
"0000004080"	"00004153"	"1"	"00567"	"00567"	"2013-12-30 13:21:00"	""	""	"SEQ"	"DNA"	""	""
"0000004081"	"00004154"	"1"	"00567"	"00567"	"2013-12-30 13:33:09"	""	""	"SEQ"	"DNA"	""	""
"0000011375"	"00011460"	"1"	"00076"	"00076"	"2014-02-10 20:51:01"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000011376"	"00011461"	"1"	"00076"	"00076"	"2014-02-10 21:35:51"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000039064"	"00038826"	"1"	"00076"	"00006"	"2015-06-11 15:41:11"	""	""	"SEQ"	"DNA"	""	""
"0000046436"	"00046331"	"1"	"00076"	"00006"	"2015-07-04 21:24:42"	""	""	"arrayCGH"	"DNA"	""	""
"0000050446"	"00050501"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000105044"	"00104572"	"1"	"02011"	"02011"	"2017-05-16 17:31:03"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000181055"	"00180152"	"1"	"00006"	"00006"	"2018-08-24 19:40:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000290528"	"00289358"	"1"	"03611"	"03611"	"2020-03-05 10:51:31"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000296843"	"00295671"	"1"	"03633"	"03633"	"2020-03-23 15:57:43"	""	""	"?"	"DNA"	""	""
"0000296844"	"00295672"	"1"	"03633"	"03633"	"2020-03-23 17:02:05"	"00006"	"2020-03-28 10:50:08"	"?"	"DNA"	""	""
"0000296845"	"00295673"	"1"	"03633"	"03633"	"2020-03-23 17:08:36"	"00006"	"2020-03-28 10:50:28"	"?"	"DNA"	""	""
"0000296847"	"00295675"	"1"	"03633"	"03633"	"2020-03-23 18:11:41"	"00006"	"2020-03-28 10:50:28"	"?"	"DNA"	""	""
"0000296848"	"00295676"	"1"	"03633"	"03633"	"2020-03-23 18:18:49"	"00006"	"2020-03-28 10:50:28"	"?"	"DNA"	""	""
"0000296876"	"00295704"	"1"	"01807"	"01807"	"2020-03-24 15:22:52"	""	""	"SEQ"	"DNA"	""	""
"0000302526"	"00301405"	"1"	"01807"	"01807"	"2020-05-15 11:32:01"	""	""	"SEQ"	"DNA"	""	""
"0000304415"	"00303257"	"1"	"03693"	"03693"	"2020-06-09 15:19:31"	""	""	"SEQ-NG"	"DNA"	"Blood"	"WES"
"0000307347"	"00306214"	"1"	"03695"	"03695"	"2020-07-11 09:42:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000312557"	"00311387"	"1"	"00006"	"00006"	"2020-09-24 16:15:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000413635"	"00412363"	"1"	"00006"	"00006"	"2022-06-27 21:35:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 72
"{{screeningid}}"	"{{geneid}}"
"0000001434"	"EFTUD2"
"0000001435"	"EFTUD2"
"0000002292"	"EFTUD2"
"0000002293"	"EFTUD2"
"0000002294"	"EFTUD2"
"0000002295"	"EFTUD2"
"0000002296"	"EFTUD2"
"0000002297"	"EFTUD2"
"0000002301"	"EFTUD2"
"0000002302"	"EFTUD2"
"0000002303"	"EFTUD2"
"0000002304"	"EFTUD2"
"0000002309"	"EFTUD2"
"0000002310"	"CHD7"
"0000002310"	"EFTUD2"
"0000002312"	"EFTUD2"
"0000002313"	"CHD7"
"0000002313"	"EFTUD2"
"0000002314"	"CHD7"
"0000002314"	"EFTUD2"
"0000002315"	"CHD7"
"0000002315"	"EFTUD2"
"0000002316"	"CHD7"
"0000002316"	"EFTUD2"
"0000002317"	"EFTUD2"
"0000002326"	"CHD7"
"0000002326"	"EFTUD2"
"0000002327"	"EFTUD2"
"0000002328"	"EFTUD2"
"0000002480"	"EFTUD2"
"0000002499"	"EFTUD2"
"0000002509"	"EFTUD2"
"0000002509"	"TCOF1"
"0000004057"	"EFTUD2"
"0000004058"	"EFTUD2"
"0000004059"	"EFTUD2"
"0000004060"	"EFTUD2"
"0000004061"	"EFTUD2"
"0000004063"	"EFTUD2"
"0000004064"	"EFTUD2"
"0000004065"	"EFTUD2"
"0000004066"	"EFTUD2"
"0000004067"	"EFTUD2"
"0000004068"	"EFTUD2"
"0000004069"	"EFTUD2"
"0000004070"	"EFTUD2"
"0000004071"	"EFTUD2"
"0000004072"	"EFTUD2"
"0000004073"	"EFTUD2"
"0000004074"	"EFTUD2"
"0000004075"	"EFTUD2"
"0000004076"	"EFTUD2"
"0000004077"	"EFTUD2"
"0000004078"	"EFTUD2"
"0000004079"	"EFTUD2"
"0000004080"	"EFTUD2"
"0000004081"	"EFTUD2"
"0000011375"	"EFTUD2"
"0000011376"	"EFTUD2"
"0000039064"	"EFTUD2"
"0000046436"	"EFTUD2"
"0000050446"	"EFTUD2"
"0000105044"	"EFTUD2"
"0000181055"	"EFTUD2"
"0000290528"	"EFTUD2"
"0000296843"	"EFTUD2"
"0000296844"	"EFTUD2"
"0000296845"	"EFTUD2"
"0000296847"	"EFTUD2"
"0000296848"	"EFTUD2"
"0000307347"	"EFTUD2"
"0000312557"	"TNRC6B"


## 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 = 170
"{{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}}"
"0000019212"	"0"	"95"	"17"	"42923423"	"42934526"	"del"	"0"	"00076"	"EFTUD2_000080"	"g.42923423_42934526del"	""	"{PMID:Lines 2012:22305528}"	""	""	"46,XY; chr17:42923422_42935059X1 on microarray"	"De novo"	""	""	"0"	""	""	"g.44846055_44857158del"	""	"pathogenic"	""
"0000019222"	"0"	"99"	"17"	"42953384"	"42953399"	""	"0"	"00006"	"EFTUD2_000001"	"g.[42953384_42953387del;42953388_42953399dup]"	""	"{PMID:Lines et al. 2012:22305528}"	""	"c.784_787deldup788_799TGATCCTGGAGC"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000019223"	"0"	"99"	"17"	"42942407"	"42942414"	"del"	"0"	"00006"	"EFTUD2_000002"	"g.42942407_42942414del"	""	"{PMID:Lines et al. 2012:22305528}"	""	"="	""	"De novo"	"yes"	""	"0"	""	""	"g.44865039_44865046del"	""	"pathogenic"	""
"0000019225"	"0"	"55"	"17"	"42792021"	"43147305"	"del"	"0"	"00006"	"DBF4B_000002"	"g.42792021_43147305del"	""	""	""	""	"array 42792021–43147305x1"	"Unknown"	""	""	"0"	""	""	"g.44714653_45069937del"	""	"VUS"	""
"0000019227"	"0"	"99"	"17"	"42953387"	"42953387"	"subst"	"0"	"00076"	"EFTUD2_000003"	"g.42953387G>A"	""	"{PMID:Lines et al. 2012:22305528}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44876019G>A"	""	"pathogenic"	""
"0000020560"	"0"	"99"	"17"	"42932028"	"42932028"	"subst"	"0"	"00076"	"EFTUD2_000004"	"g.42932028G>A"	""	"{PMID:Lines et al. 2012:22305528}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44854660G>A"	""	"pathogenic"	""
"0000020561"	"0"	"99"	"17"	"42930732"	"42930732"	"subst"	"0"	"00076"	"EFTUD2_000005"	"g.42930732G>T"	""	"{PMID:Lines et al. 2012:22305528}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44853364G>T"	""	"pathogenic"	""
"0000020562"	"0"	"99"	"17"	"42940078"	"42940078"	"subst"	"0"	"00076"	"EFTUD2_000006"	"g.42940078T>C"	""	"{PMID:Lines et al. 2012:22305528}"	""	"p.Tyr537fs*25"	""	"Unknown"	""	""	"0"	""	""	"g.44862710T>C"	""	"pathogenic"	""
"0000020563"	"0"	"99"	"17"	"42936500"	"42936500"	"subst"	"0"	"00076"	"EFTUD2_000007"	"g.42936500A>C"	""	"{PMID:Lines et al. 2012:22305528}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44859132A>C"	""	"pathogenic"	""
"0000020564"	"0"	"99"	"17"	"42940262"	"42940262"	"subst"	"0"	"00076"	"EFTUD2_000008"	"g.42940262A>G"	""	""	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44862894A>G"	""	"pathogenic"	""
"0000020565"	"0"	"99"	"17"	"42929131"	"42929131"	"subst"	"0"	"00076"	"EFTUD2_000009"	"g.42929131G>A"	""	"{PMID:Lines et al. 2012:22305528}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44851763G>A"	""	"pathogenic"	""
"0000020566"	"0"	"99"	"17"	"42937374"	"42937375"	"del"	"0"	"00076"	"EFTUD2_000010"	"g.42937374_42937375del"	""	"{PMID:Lines et al. 2012:22305528}"	""	"c.1758_1759del"	""	"Unknown"	""	""	"0"	""	""	"g.44860006_44860007del"	""	"pathogenic"	""
"0000020570"	"0"	"99"	"17"	"40317500"	"40341500"	""	"0"	"00076"	"EFTUD2_000011"	"g.(40317000_40318000)_(40341000_40342000)del"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"NCBI36 chr17:40.319-40.353 Mbp del"	">23 kb deletion"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000020571"	"0"	"99"	"17"	"40318500"	"40353500"	""	"0"	"00076"	"EFTUD2_000012"	"g.(40318000_40319000)_(40353000_40354000)del"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"NCBI36 40319000_40353000del"	"˜34 kb deletion"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000020572"	"0"	"99"	"17"	"42931923"	"42931923"	"subst"	"0"	"00076"	"EFTUD2_000013"	"g.42931923C>T"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44854555C>T"	""	"pathogenic"	""
"0000020573"	"0"	"99"	"17"	"42929871"	"42929873"	"delins"	"0"	"00076"	"EFTUD2_000014"	"g.42929871_42929873delinsGACC"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44852503_44852505delinsGACC"	""	"pathogenic"	""
"0000020577"	"0"	"99"	"17"	"42937814"	"42937814"	"subst"	"0"	"00076"	"EFTUD2_000015"	"g.42937814G>A"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44860446G>A"	""	"pathogenic"	""
"0000020578"	"0"	"77"	"17"	"42957921"	"42957921"	"subst"	"0"	"00076"	"EFTUD2_000016"	"g.42957921C>T"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44880553C>T"	""	"likely pathogenic"	""
"0000020579"	"0"	"77"	"17"	"42957003"	"42957003"	"subst"	"0"	"00076"	"EFTUD2_000017"	"g.42957003T>C"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44879635T>C"	""	"likely pathogenic"	""
"0000020580"	"0"	"99"	"17"	"42931985"	"42931985"	"subst"	"0"	"00076"	"EFTUD2_000018"	"g.42931985C>T"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"Unknown"	""	""	"0"	""	""	"g.44854617C>T"	""	"pathogenic"	""
"0000020581"	"11"	"33"	"17"	"42931571"	"42931571"	"subst"	"0"	"00076"	"EFTUD2_000019"	"g.42931571T>C"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"Germline"	"no"	""	"0"	""	""	"g.44854203T>C"	""	"likely benign"	""
"0000020582"	"0"	"77"	"17"	"42956956"	"42956956"	"subst"	"0"	"00076"	"EFTUD2_000020"	"g.42956956C>T"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"Unknown"	""	""	"0"	"dbulman@cheo.on.ca"	""	"g.44879588C>T"	""	"likely pathogenic"	""
"0000020583"	"21"	"77"	"17"	"42929078"	"42929078"	"del"	"0"	"00076"	"EFTUD2_000021"	"g.42929078del"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"Germline"	"yes"	""	"0"	""	""	"g.44851710del"	""	"likely pathogenic"	""
"0000020593"	"0"	"77"	"17"	"42929078"	"42929078"	"del"	"0"	"00076"	"EFTUD2_000021"	"g.42929078del"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	"mother of individual #00002442"	"De novo"	""	""	"0"	""	""	"g.44851710del"	""	"likely pathogenic"	""
"0000020594"	"0"	"73"	"17"	"42945648"	"42945652"	"del"	"0.00547854"	"00076"	"EFTUD2_000022"	"g.42945648_42945652del"	""	"{PMID:Gordon 2012:23188108}, {DOI:Gordon 2012:10.1136/jmedgenet-2012-101173}"	""	"="	""	"Unknown"	""	""	"0"	""	""	"g.44868280_44868284del"	""	"likely pathogenic"	""
"0000020595"	"0"	"99"	"17"	"42930729"	"42930729"	"subst"	"0"	"00076"	"EFTUD2_000023"	"g.42930729G>C"	""	"{PMID:Bernier et al. 2012:22541558}"	""	"c.2495C>G"	""	"Unknown"	""	""	"0"	""	""	"g.44853361G>C"	""	"pathogenic"	""
"0000020596"	"0"	"77"	"17"	"42930740"	"42930740"	"subst"	"0"	"00076"	"EFTUD2_000024"	"g.42930740C>T"	""	"{PMID:Luquetti et al. 2012:23239648}"	""	"c.2637G>A; p.Glu794Lys"	""	"De novo"	""	""	"0"	""	""	"g.44853372C>T"	""	"likely pathogenic"	""
"0000020758"	"21"	"77"	"17"	"42949813"	"42949813"	"subst"	"0"	"00076"	"EFTUD2_000025"	"g.42949813C>G"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	""	"Germline"	"yes"	""	"0"	""	""	"g.44872445C>G"	""	"likely pathogenic"	""
"0000020759"	"21"	"77"	"17"	"42949813"	"42949813"	"subst"	"0"	"00076"	"EFTUD2_000025"	"g.42949813C>G"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	""	"Germline"	"yes"	""	"0"	""	""	"g.44872445C>G"	""	"likely pathogenic"	""
"0000020760"	"0"	"77"	"17"	"42949813"	"42949813"	"subst"	"0"	"00076"	"EFTUD2_000025"	"g.42949813C>G"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	""	"Unknown"	"?"	""	"0"	""	""	"g.44872445C>G"	""	"likely pathogenic"	""
"0000020762"	"0"	"99"	"17"	"42929873"	"42929873"	"dup"	"0"	"00076"	"EFTUD2_000026"	"g.42929873dup"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	"germline mosaicism is suspected in one of the parents of this individual"	"Unknown"	"yes"	""	"0"	""	""	"g.44852505dup"	""	"pathogenic"	""
"0000020763"	"0"	"99"	"17"	"42929873"	"42929873"	"dup"	"0"	"00076"	"EFTUD2_000026"	"g.42929873dup"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	"germlin mosaicism is suspected in one of the parents of this individual"	"Unknown"	"yes"	""	"0"	""	""	"g.44852505dup"	""	"pathogenic"	""
"0000020778"	"0"	"99"	"17"	"42957947"	"42957947"	"subst"	"0"	"00076"	"EFTUD2_000027"	"g.42957947A>C"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44880579A>C"	""	"pathogenic"	""
"0000020784"	"0"	"99"	"17"	"42929931"	"42929931"	"subst"	"0"	"00076"	"EFTUD2_000028"	"g.42929931C>G"	""	"{PMID:Voigt et al. 2013:23879989}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44852563C>G"	""	"pathogenic"	""
"0000020789"	"0"	"77"	"17"	"42961093"	"42961093"	"subst"	"0"	"00076"	"EFTUD2_000029"	"g.42961093C>T"	""	"{PMID:Voigt et al. 2013:23879989}"	""	"="	""	"De novo"	""	""	"0"	""	""	"g.44883725C>T"	""	"likely pathogenic"	""
"0000022963"	"0"	"75"	"17"	"42964026"	"42964026"	"subst"	"0"	"00567"	"EFTUD2_000031"	"g.42964026G>C"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44886658G>C"	""	"likely pathogenic"	""
"0000022964"	"0"	"75"	"17"	"42961093"	"42961093"	"subst"	"0"	"00567"	"EFTUD2_000035"	"g.42961093C>G"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44883725C>G"	""	"likely pathogenic"	""
"0000022965"	"0"	"75"	"17"	"42959085"	"42959085"	"subst"	"0"	"00567"	"EFTUD2_000036"	"g.42959085G>T"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44881717G>T"	""	"likely pathogenic"	""
"0000022966"	"0"	"75"	"17"	"42958013"	"42958013"	"subst"	"0"	"00567"	"EFTUD2_000037"	"g.42958013C>T"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44880645C>T"	""	"likely pathogenic"	""
"0000022967"	"0"	"75"	"17"	"42956927"	"42956927"	"del"	"0"	"00567"	"EFTUD2_000038"	"g.42956927del"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44879559del"	""	"likely pathogenic"	""
"0000022968"	"0"	"75"	"17"	"42953426"	"42953426"	"subst"	"0"	"00567"	"EFTUD2_000040"	"g.42953426C>A"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44876058C>A"	""	"likely pathogenic"	""
"0000022969"	"0"	"75"	"17"	"42945170"	"42945170"	"subst"	"0"	"00567"	"EFTUD2_000041"	"g.42945170C>A"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44867802C>A"	""	"likely pathogenic"	""
"0000022970"	"0"	"75"	"17"	"42940253"	"42940253"	"dup"	"0"	"00567"	"EFTUD2_000042"	"g.42940253dup"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44862885dup"	""	"likely pathogenic"	""
"0000022971"	"0"	"75"	"17"	"42937273"	"42937273"	"subst"	"0"	"00567"	"EFTUD2_000043"	"g.42937273C>G"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44859905C>G"	""	"likely pathogenic"	""
"0000022972"	"0"	"75"	"17"	"42936447"	"42936447"	"subst"	"0"	"00567"	"EFTUD2_000044"	"g.42936447C>T"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44859079C>T"	""	"likely pathogenic"	""
"0000022973"	"0"	"75"	"17"	"42956919"	"42956919"	"subst"	"0"	"00567"	"EFTUD2_000039"	"g.42956919C>G"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44879551C>G"	""	"likely pathogenic"	""
"0000022974"	"0"	"75"	"17"	"42934512"	"42934512"	"delins"	"0"	"00567"	"EFTUD2_000045"	"g.42934512delinsGGTGG"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44857144delinsGGTGG"	""	"likely pathogenic"	""
"0000022975"	"0"	"75"	"17"	"42931938"	"42931938"	"dup"	"0"	"00567"	"EFTUD2_000046"	"g.42931938dup"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44854570dup"	""	"likely pathogenic"	""
"0000022976"	"0"	"75"	"17"	"42931688"	"42931688"	"del"	"0"	"00567"	"EFTUD2_000047"	"g.42931688del"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44854320del"	""	"likely pathogenic"	""
"0000022977"	"0"	"75"	"17"	"42930759"	"42930759"	"subst"	"0"	"00567"	"EFTUD2_000048"	"g.42930759C>A"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44853391C>A"	""	"likely pathogenic"	""
"0000022978"	"0"	"75"	"17"	"42929931"	"42929931"	"subst"	"0"	"00567"	"EFTUD2_000050"	"g.42929931C>T"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44852563C>T"	""	"likely pathogenic"	""
"0000022979"	"0"	"75"	"17"	"42929931"	"42929932"	"del"	"0"	"00567"	"EFTUD2_000030"	"g.42929931_42929932del"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44852563_44852564del"	""	"likely pathogenic"	""
"0000022980"	"21"	"75"	"17"	"42929931"	"42929932"	"del"	"0"	"00567"	"EFTUD2_000030"	"g.42929931_42929932del"	""	"Lehalle et al 2014"	""	""	"EFTUD2 variant inherited from affected mother"	"Germline"	"yes"	""	"0"	""	""	"g.44852563_44852564del"	""	"likely pathogenic"	""
"0000022981"	"0"	"75"	"17"	"42929931"	"42929932"	"del"	"0"	"00567"	"EFTUD2_000030"	"g.42929931_42929932del"	""	"Lehalle et al 2014"	""	""	"Mother of case 27 in Lehalle et al 2014"	"Unknown"	""	""	"0"	""	""	"g.44852563_44852564del"	""	"likely pathogenic"	""
"0000022982"	"0"	"75"	"17"	"42929932"	"42929932"	"del"	"0"	"00567"	"EFTUD2_000049"	"g.42929932del"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44852564del"	""	"likely pathogenic"	""
"0000022983"	"0"	"75"	"17"	"42929932"	"42929932"	"del"	"0"	"00567"	"EFTUD2_000049"	"g.42929932del"	""	"Lehalle et al 2014"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44852564del"	""	"likely pathogenic"	""
"0000022984"	"0"	"75"	"17"	"42929932"	"42929932"	"del"	"0"	"00567"	"EFTUD2_000049"	"g.42929932del"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44852564del"	""	"likely pathogenic"	""
"0000022985"	"0"	"55"	"17"	"42929926"	"42929926"	"subst"	"0"	"00567"	"EFTUD2_000051"	"g.42929926G>A"	""	"Lehalle et al 2014"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44852558G>A"	""	"VUS"	""
"0000022986"	"21"	"75"	"17"	"42929078"	"42929078"	"del"	"0"	"00567"	"EFTUD2_000021"	"g.42929078del"	""	"Lehalle et al 2014"	""	""	"EFTUD2 variant inherited from affected mother (= \"Mother of case 11\" in Gordon et al 2012)."	"Germline"	"yes"	""	"0"	""	""	"g.44851710del"	""	"likely pathogenic"	""
"0000031002"	"0"	"75"	"17"	"42949809"	"42949809"	"subst"	"0"	"00076"	"EFTUD2_000032"	"g.42949809C>T"	""	"{PMID:Need et al. 2012:22581936}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44872441C>T"	""	"likely pathogenic"	""
"0000031003"	"0"	"99"	"17"	"42956928"	"42956928"	"del"	"0"	"00076"	"EFTUD2_000033"	"g.42956928del"	""	"{PMID:Need et al. 2012:22582936}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44879560del"	""	"pathogenic"	""
"0000067091"	"0"	"99"	"17"	"42971878"	"42971878"	"del"	"0"	"00076"	"EFTUD2_000034"	"g.42971878del"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44894510del"	""	"pathogenic"	""
"0000067096"	"0"	"99"	"17"	"42971785"	"42971785"	"subst"	"0"	"00076"	"EFTUD2_000052"	"g.42971785C>T"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44894417C>T"	""	"pathogenic"	""
"0000067097"	"21"	"99"	"17"	"42964120"	"42964120"	"subst"	"0"	"00076"	"EFTUD2_000053"	"g.42964120T>C"	""	"Huang et al. 2015"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44886752T>C"	""	"pathogenic"	""
"0000067098"	"0"	"99"	"17"	"42964016"	"42964016"	"subst"	"0"	"00076"	"EFTUD2_000054"	"g.42964016C>A"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44886648C>A"	""	"pathogenic"	""
"0000067099"	"0"	"99"	"17"	"42962694"	"42962713"	"del"	"0"	"00076"	"EFTUD2_000055"	"g.42962694_42962713del"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44885326_44885345del"	""	"pathogenic"	""
"0000067100"	"21"	"99"	"17"	""	""	""	""	"00076"	"EFTUD2_000056"	"g.[42960528delT;42960532G>A]"	""	"Huang et al. 2015"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000067101"	"21"	"99"	"17"	"42960460"	"42960460"	"subst"	"0"	"00076"	"EFTUD2_000057"	"g.42960460C>T"	""	"Huang et al. 2015"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44883092C>T"	""	"pathogenic"	""
"0000067102"	"0"	"77"	"17"	"42956919"	"42956919"	"subst"	"0"	"00076"	"EFTUD2_000058"	"g.42956919C>T"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44879551C>T"	""	"likely pathogenic"	""
"0000067103"	"0"	"77"	"17"	"42956919"	"42956919"	"subst"	"0"	"00076"	"EFTUD2_000058"	"g.42956919C>T"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44879551C>T"	""	"likely pathogenic"	""
"0000067118"	"0"	"99"	"17"	"42953387"	"42953387"	"subst"	"0"	"00076"	"EFTUD2_000003"	"g.42953387G>A"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44876019G>A"	""	"pathogenic"	""
"0000067119"	"0"	"99"	"17"	"42945663"	"42945663"	"del"	"0"	"00076"	"EFTUD2_000059"	"g.42945663del"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44868295del"	""	"pathogenic"	""
"0000067121"	"0"	"99"	"17"	"42941138"	"42941139"	"del"	"0"	"00076"	"EFTUD2_000060"	"g.42941138_42941139del"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44863770_44863771del"	""	"pathogenic"	""
"0000067122"	"0"	"99"	"17"	"42941138"	"42941139"	"del"	"0"	"00076"	"EFTUD2_000060"	"g.42941138_42941139del"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44863770_44863771del"	""	"pathogenic"	""
"0000067124"	"21"	"77"	"17"	"42940192"	"42940192"	"subst"	"0"	"00076"	"EFTUD2_000061"	"g.42940192C>T"	""	"Huang et al. 2015"	""	""	"proband inherited the variant from her affected mother, in whom the variant arose de novo"	"Germline"	""	""	"0"	""	""	"g.44862824C>T"	""	"likely pathogenic"	""
"0000067125"	"0"	"99"	"17"	"42937814"	"42937814"	"subst"	"0"	"00076"	"EFTUD2_000015"	"g.42937814G>A"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44860446G>A"	""	"pathogenic"	""
"0000067126"	"0"	"99"	"17"	"42937401"	"42937401"	"subst"	"0"	"00076"	"EFTUD2_000062"	"g.42937401G>A"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44860033G>A"	""	"pathogenic"	""
"0000067127"	"21"	"99"	"17"	"42937401"	"42937401"	"subst"	"0"	"00076"	"EFTUD2_000062"	"g.42937401G>A"	""	"Huang et al. 2015"	""	""	"proband inherited this variant from the affected mother, in whom the variant arose de novo"	"Germline"	""	""	"0"	""	""	"g.44860033G>A"	""	"pathogenic"	""
"0000067128"	"0"	"99"	"17"	"42936551"	"42936551"	"subst"	"0"	"00076"	"EFTUD2_000063"	"g.42936551T>C"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44859183T>C"	""	"pathogenic"	""
"0000067129"	"0"	"99"	"17"	"42934527"	"42934527"	"subst"	"0"	"00076"	"EFTUD2_000064"	"g.42934527T>A"	""	"Huang et al. 2015"	""	""	"RT-PCR confirmed the splicing defects"	"Unknown"	""	""	"0"	""	""	"g.44857159T>A"	""	"pathogenic"	""
"0000067130"	"0"	"77"	"17"	"42934455"	"42934455"	"subst"	"0"	"00076"	"EFTUD2_000065"	"g.42934455G>T"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44857087G>T"	""	"likely pathogenic"	""
"0000067131"	"0"	"99"	"17"	"42934442"	"42934442"	"subst"	"0"	"00076"	"EFTUD2_000066"	"g.42934442C>T"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44857074C>T"	""	"pathogenic"	""
"0000067132"	"0"	"99"	"17"	"42934441"	"42934441"	"subst"	"0"	"00076"	"EFTUD2_000067"	"g.42934441A>C"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44857073A>C"	""	"pathogenic"	""
"0000067133"	"0"	"77"	"17"	"42931679"	"42931679"	"subst"	"0"	"00076"	"EFTUD2_000068"	"g.42931679C>G"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44854311C>G"	""	"likely pathogenic"	""
"0000067134"	"0"	"99"	"17"	"42931653"	"42931653"	"dup"	"0"	"00076"	"EFTUD2_000069"	"g.42931653dup"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44854285dup"	""	"pathogenic"	""
"0000067135"	"21"	"99"	"17"	"42930729"	"42930729"	"subst"	"0"	"00076"	"EFTUD2_000070"	"g.42930729G>C"	""	"Huang et al. 2015"	""	""	"2 affected siblings from unaffected parents. Maternal mosaicism was confirmed by SNP analysis"	"Germline"	""	""	"0"	""	""	"g.44853361G>C"	""	"pathogenic"	""
"0000067136"	"0"	"99"	"17"	"42929798"	"42929801"	"del"	"0"	"00076"	"EFTUD2_000071"	"g.42929798_42929801del"	""	"Huang et al. 2015"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44852430_44852433del"	""	"pathogenic"	""
"0000067137"	"0"	"77"	"17"	"42929088"	"42929088"	"subst"	"0"	"00076"	"EFTUD2_000072"	"g.42929088C>T"	""	"Huang et al. 2015"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44851720C>T"	""	"likely pathogenic"	""
"0000067138"	"0"	"77"	"17"	"42929077"	"42929077"	"subst"	"0"	"00076"	"EFTUD2_000073"	"g.42929077C>A"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44851709C>A"	""	"likely pathogenic"	""
"0000067139"	"0"	"90"	"17"	"42010525"	"42949809"	"del"	"0"	"00076"	"EFTUD2_000074"	"g.42010525_42949809del"	""	"Huang et al. 2015"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.43933157_44872441del"	""	"pathogenic"	""
"0000072969"	"0"	"99"	"17"	"42957940"	"42957940"	"dup"	"0"	"00076"	"EFTUD2_000075"	"g.42957940dup"	""	"{PMID:Vincent et al.:25790162}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44880572dup"	""	"pathogenic"	""
"0000072970"	"0"	"99"	"17"	"42931932"	"42931932"	"del"	"0"	"00076"	"EFTUD2_000076"	"g.42931932del"	""	"{PMID:Vincent et al.:25790162}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.44854564del"	""	"pathogenic"	""
"0000072971"	"0"	"97"	"17"	"42930758"	"42930758"	"subst"	"0"	"00076"	"EFTUD2_000077"	"g.42930758C>T"	""	"{PMID:Vincet et al.:25790162}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44853390C>T"	""	"pathogenic"	""
"0000072972"	"0"	"99"	"17"	"42929131"	"42929131"	"subst"	"0"	"00076"	"EFTUD2_000009"	"g.42929131G>A"	""	"{PMID:Vincent et al.:25790162}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44851763G>A"	""	"pathogenic"	""
"0000072973"	"0"	"99"	"17"	"42949875"	"42949875"	"dup"	"0"	"00076"	"EFTUD2_000078"	"g.42949875dup"	""	"{PMID:Sarkar et al.:25735261}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44872507dup"	""	"pathogenic"	""
"0000072974"	"0"	"99"	"17"	"42937401"	"42937401"	"subst"	"0"	"00076"	"EFTUD2_000062"	"g.42937401G>A"	""	"{PMID:Sarkar et al.:25735261}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44860033G>A"	""	"pathogenic"	""
"0000072975"	"0"	"99"	"17"	"42940253"	"42940253"	"dup"	"0"	"00076"	"EFTUD2_000042"	"g.42940253dup"	""	"{PMID:Smigiel et al.:25387991}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44862885dup"	""	"pathogenic"	""
"0000072976"	"0"	"97"	"17"	"42953387"	"42953387"	"subst"	"0"	"00076"	"EFTUD2_000003"	"g.42953387G>A"	""	"{PMID:Smigiel et al.:25387991}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44876019G>A"	""	"pathogenic"	""
"0000072977"	"0"	"97"	"17"	""	""	""	""	"00076"	"EFTUD2_000079"	"g.[42937274T>A;42937269_42937270delinsCTC]"	""	"{PMID:Smigiel et al.:25387991}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000073960"	"0"	"90"	"17"	"23911667"	"42689368"	""	"0"	"00076"	"EFTUD2_000000"	"g.(42600000_42778736)_(4323333_43500000)del"	""	"{PMID:Gandoni 2015:24266672}, {DOI:Gandoni 2015:10.1111/cge.12328}"	""	""	"probably de novo; deletion between 0.435 and 0.475 Mb"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000079426"	"0"	"90"	"17"	"42920900"	"42932449"	"del"	"0"	"00006"	"EFTUD2_000081"	"g.42920900_42932449del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	"g.44843532_44855081del"	""	"pathogenic"	""
"0000170306"	"0"	"70"	"17"	"42949932"	"42949932"	"subst"	"0"	"02011"	"EFTUD2_000082"	"g.42949932A>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.44872564A>C"	""	"likely pathogenic"	""
"0000247916"	"0"	"10"	"17"	"42953409"	"42953409"	"subst"	"0.169775"	"02325"	"EFTUD2_000094"	"g.42953409A>G"	""	""	""	"EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44876041A>G"	""	"benign"	""
"0000253177"	"0"	"10"	"17"	"42953409"	"42953409"	"subst"	"0.169775"	"01943"	"EFTUD2_000094"	"g.42953409A>G"	""	""	""	"EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44876041A>G"	""	"benign"	""
"0000266521"	"0"	"10"	"17"	"42980189"	"42980189"	"subst"	"0.271987"	"02325"	"CCDC103_000005"	"g.42980189G>A"	""	""	""	"CCDC103(NM_001258397.3):c.*483G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44902821G>A"	""	"benign"	""
"0000266522"	"0"	"10"	"17"	"42979670"	"42979670"	"subst"	"0.268651"	"02325"	"CCDC103_000003"	"g.42979670C>A"	""	""	""	"CCDC103(NM_001258397.3):c.277-16C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44902302C>A"	""	"benign"	""
"0000267772"	"0"	"10"	"17"	"42945648"	"42945652"	"del"	"0.00547854"	"02325"	"EFTUD2_000022"	"g.42945648_42945652del"	""	""	""	"EFTUD2(NM_001142605.1):c.953+3_953+7del (p.?), EFTUD2(NM_001258353.1):c.1058+3_1058+7delAAGTA, EFTUD2(NM_001258353.2):c.1058+3_1058+7delAAGTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44868280_44868284del"	""	"benign"	""
"0000267773"	"0"	"10"	"17"	"42961009"	"42961009"	"subst"	"0.560925"	"02325"	"EFTUD2_000095"	"g.42961009C>T"	""	""	""	"EFTUD2(NM_001258353.2):c.426+8G>A, EFTUD2(NM_004247.3):c.426+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44883641C>T"	""	"benign"	""
"0000267774"	"0"	"10"	"17"	"42949808"	"42949808"	"subst"	"0.268667"	"02325"	"EFTUD2_000092"	"g.42949808G>A"	""	""	""	"EFTUD2(NM_001258353.2):c.994+6C>T, EFTUD2(NM_004247.3):c.994+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44872440G>A"	""	"benign"	""
"0000271099"	"0"	"90"	"17"	"42934526"	"42934526"	"subst"	"0.00000406164"	"02326"	"EFTUD2_000087"	"g.42934526C>T"	""	""	""	"EFTUD2(NM_001258353.1):c.1963-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44857158C>T"	""	"pathogenic"	""
"0000271100"	"0"	"90"	"17"	"42929818"	"42929818"	"subst"	"0"	"02326"	"EFTUD2_000084"	"g.42929818G>A"	""	""	""	"EFTUD2(NM_001258353.1):c.2674C>T (p.Q892*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44852450G>A"	""	"pathogenic"	""
"0000275992"	"0"	"90"	"17"	"42941138"	"42941139"	"del"	"0"	"01943"	"EFTUD2_000060"	"g.42941138_42941139del"	""	""	""	"EFTUD2(NM_004247.3):c.1297_1298delAT (p.M433Vfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44863770_44863771del"	""	"pathogenic"	""
"0000275993"	"0"	"50"	"17"	"42941037"	"42941037"	"subst"	"0"	"01943"	"EFTUD2_000091"	"g.42941037C>A"	""	""	""	"EFTUD2(NM_001258353.1):c.1399G>T (p.D467Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44863669C>A"	""	"VUS"	""
"0000275994"	"0"	"10"	"17"	"42930859"	"42930859"	"subst"	"0.109916"	"01943"	"EFTUD2_000085"	"g.42930859G>A"	""	""	""	"EFTUD2(NM_004247.3):c.2466+26C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44853491G>A"	""	"benign"	""
"0000275995"	"0"	"10"	"17"	"42929759"	"42929759"	"subst"	"0.0256808"	"01943"	"EFTUD2_000083"	"g.42929759C>G"	""	""	""	"EFTUD2(NM_004247.3):c.2715+18G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44852391C>G"	""	"benign"	""
"0000275996"	"0"	"10"	"17"	"42961009"	"42961009"	"subst"	"0.560925"	"01943"	"EFTUD2_000095"	"g.42961009C>T"	""	""	""	"EFTUD2(NM_001258353.2):c.426+8G>A, EFTUD2(NM_004247.3):c.426+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44883641C>T"	""	"benign"	""
"0000275997"	"0"	"90"	"17"	"42953379"	"42953379"	"del"	"0"	"01943"	"EFTUD2_000093"	"g.42953379del"	""	""	""	"EFTUD2(NM_004247.3):c.793delC (p.L265Wfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44876011del"	""	"pathogenic"	""
"0000275998"	"0"	"10"	"17"	"42949808"	"42949808"	"subst"	"0.268667"	"01943"	"EFTUD2_000092"	"g.42949808G>A"	""	""	""	"EFTUD2(NM_001258353.2):c.994+6C>T, EFTUD2(NM_004247.3):c.994+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44872440G>A"	""	"benign"	""
"0000325439"	"0"	"50"	"17"	"42925539"	"42925539"	"subst"	"0.0021698"	"01804"	"HIGD1B_000001"	"g.42925539T>C"	""	""	""	"HIGD1B(NM_001271880.1):c.19T>C (p.(Trp7Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44848171T>C"	""	"VUS"	""
"0000325440"	"0"	"50"	"17"	"42926696"	"42926696"	"subst"	"0.0000121827"	"01804"	"HIGD1B_000002"	"g.42926696A>G"	""	""	""	"HIGD1B(NM_001271880.1):c.175A>G (p.(Ile59Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44849328A>G"	""	"VUS"	""
"0000325444"	"0"	"50"	"17"	"42940079"	"42940079"	"subst"	"0"	"01804"	"EFTUD2_000089"	"g.42940079A>T"	""	""	""	"EFTUD2(NM_001142605.1):c.1502+2T>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44862711A>T"	""	"VUS"	""
"0000325445"	"0"	"50"	"17"	"42940272"	"42940272"	"del"	"0"	"01804"	"EFTUD2_000090"	"g.42940272del"	""	""	""	"EFTUD2(NM_001142605.1):c.1315del (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44862904del"	""	"VUS"	""
"0000325446"	"0"	"30"	"17"	"42945648"	"42945652"	"del"	"0.00547854"	"01804"	"EFTUD2_000022"	"g.42945648_42945652del"	""	""	""	"EFTUD2(NM_001142605.1):c.953+3_953+7del (p.?), EFTUD2(NM_001258353.1):c.1058+3_1058+7delAAGTA, EFTUD2(NM_001258353.2):c.1058+3_1058+7delAAGTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44868280_44868284del"	""	"likely benign"	""
"0000325447"	"0"	"50"	"17"	"42978401"	"42978401"	"subst"	"0"	"01804"	"CCDC103_000002"	"g.42978401T>C"	""	""	""	"CCDC103(NM_001258395.1):c.35T>C (p.(Leu12Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44901033T>C"	""	"VUS"	""
"0000325448"	"0"	"30"	"17"	"42980166"	"42980166"	"subst"	"0"	"01804"	"CCDC103_000004"	"g.42980166A>G"	""	""	""	"CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44902798A>G"	""	"likely benign"	""
"0000338076"	"0"	"70"	"17"	"42937414"	"42937414"	"subst"	"0"	"02327"	"EFTUD2_000098"	"g.42937414C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44860046C>T"	""	"likely pathogenic"	""
"0000338077"	"0"	"10"	"17"	"42961009"	"42961009"	"subst"	"0.560925"	"02327"	"EFTUD2_000095"	"g.42961009C>T"	""	""	""	"EFTUD2(NM_001258353.2):c.426+8G>A, EFTUD2(NM_004247.3):c.426+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44883641C>T"	""	"benign"	""
"0000338078"	"0"	"90"	"17"	"42962623"	"42962623"	"subst"	"0"	"02327"	"EFTUD2_000101"	"g.42962623C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44885255C>T"	""	"pathogenic"	""
"0000340066"	"0"	"10"	"17"	"42953409"	"42953409"	"subst"	"0.169775"	"02327"	"EFTUD2_000094"	"g.42953409A>G"	""	""	""	"EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44876041A>G"	""	"benign"	""
"0000342457"	"0"	"90"	"17"	"42953387"	"42953387"	"subst"	"0"	"02327"	"EFTUD2_000003"	"g.42953387G>A"	""	""	""	"EFTUD2(NM_001258353.1):c.784C>T (p.R262W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44876019G>A"	""	"pathogenic"	""
"0000342715"	"0"	"90"	"17"	"42945264"	"42945264"	"subst"	"0"	"02327"	"EFTUD2_000099"	"g.42945264G>A"	""	""	""	"EFTUD2(NM_004247.3):c.1060C>T (p.(Arg354Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44867896G>A"	""	"pathogenic"	""
"0000343125"	"0"	"90"	"17"	"42937401"	"42937401"	"subst"	"0"	"02327"	"EFTUD2_000062"	"g.42937401G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44860033G>A"	""	"pathogenic"	""
"0000344181"	"0"	"50"	"17"	"42932016"	"42932016"	"subst"	"0"	"02327"	"EFTUD2_000097"	"g.42932016C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44854648C>A"	""	"VUS"	""
"0000345583"	"0"	"90"	"17"	"42929842"	"42929842"	"subst"	"0"	"02327"	"EFTUD2_000096"	"g.42929842C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44852474C>A"	""	"pathogenic"	""
"0000349249"	"0"	"90"	"17"	"42962640"	"42962640"	"dup"	"0"	"02327"	"EFTUD2_000102"	"g.42962640dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44885272dup"	""	"pathogenic"	""
"0000349468"	"0"	"70"	"17"	"42945655"	"42945655"	"subst"	"0"	"02327"	"EFTUD2_000100"	"g.42945655G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44868287G>A"	""	"likely pathogenic"	""
"0000404691"	"0"	"70"	"17"	"42932371"	"42932371"	"subst"	"0"	"00006"	"EFTUD2_000103"	"g.42932371T>A"	""	"{PMID:Tumienė 2018:29286531}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44855003T>A"	""	"likely pathogenic"	"ACMG"
"0000561942"	"0"	"30"	"17"	"42927723"	"42927723"	"subst"	"0.0201275"	"01804"	"EFTUD2_000105"	"g.42927723G>A"	""	""	""	"HIGD1B(NM_001271880.1):c.259G>A (p.(Asp87Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44850355G>A"	""	"likely benign"	""
"0000561943"	"0"	"30"	"17"	"42927747"	"42927747"	"subst"	"0.000904514"	"01804"	"EFTUD2_000106"	"g.42927747G>A"	""	""	""	"HIGD1B(NM_001271880.1):c.283G>A (p.(Asp95Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44850379G>A"	""	"likely benign"	""
"0000561944"	"0"	"50"	"17"	"42928670"	"42928670"	"subst"	"0"	"01804"	"EFTUD2_000107"	"g.42928670T>C"	""	""	""	"EFTUD2(NM_001142605.1):c.2786A>G (p.(Gln929Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44851302T>C"	""	"VUS"	""
"0000561945"	"0"	"50"	"17"	"42930689"	"42930689"	"subst"	"0"	"02327"	"EFTUD2_000108"	"g.42930689C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44853321C>T"	""	"VUS"	""
"0000561947"	"0"	"70"	"17"	"42940078"	"42940078"	"subst"	"0"	"01943"	"EFTUD2_000006"	"g.42940078T>C"	""	""	""	"EFTUD2(NM_001258353.1):c.1607+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44862710T>C"	""	"likely pathogenic"	""
"0000561948"	"0"	"90"	"17"	"42940144"	"42940144"	"del"	"0"	"02327"	"EFTUD2_000110"	"g.42940144del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44862776del"	""	"pathogenic"	""
"0000561949"	"0"	"30"	"17"	"42940183"	"42940183"	"subst"	"0"	"01804"	"EFTUD2_000111"	"g.42940183T>C"	""	""	""	"EFTUD2(NM_001142605.1):c.1400A>G (p.(His467Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44862815T>C"	""	"likely benign"	""
"0000561950"	"0"	"10"	"17"	"42949824"	"42949824"	"subst"	"0.00124343"	"01943"	"EFTUD2_000112"	"g.42949824G>A"	""	""	""	"EFTUD2(NM_001258353.1):c.984C>T (p.A328=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44872456G>A"	""	"benign"	""
"0000561951"	"0"	"50"	"17"	"42953413"	"42953413"	"subst"	"0"	"01943"	"EFTUD2_000113"	"g.42953413A>T"	""	""	""	"EFTUD2(NM_001258353.1):c.758T>A (p.V253D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44876045A>T"	""	"VUS"	""
"0000561953"	"0"	"90"	"17"	"42961064"	"42961065"	"del"	"0"	"02327"	"EFTUD2_000115"	"g.42961064_42961065del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44883696_44883697del"	""	"pathogenic"	""
"0000561955"	"0"	"30"	"17"	"42978436"	"42978436"	"subst"	"0.0000042917"	"01804"	"EFTUD2_000117"	"g.42978436G>A"	""	""	""	"CCDC103(NM_001258395.1):c.70G>A (p.(Glu24Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44901068G>A"	""	"likely benign"	""
"0000616629"	"0"	"70"	"17"	"42945264"	"42945264"	"subst"	"0"	"01804"	"EFTUD2_000099"	"g.42945264G>A"	""	""	""	"EFTUD2(NM_004247.3):c.1060C>T (p.(Arg354Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44867896G>A"	""	"likely pathogenic"	""
"0000647211"	"1"	"70"	"17"	"42963952"	"42963952"	"subst"	"0"	"03611"	"EFTUD2_000118"	"g.42963952C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.44886584C>T"	""	"pathogenic (dominant)"	""
"0000655960"	"0"	"90"	"17"	"42960525"	"42960525"	"subst"	"0"	"03633"	"EFTUD2_000124"	"g.42960525G>A"	""	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44883157G>A"	""	"likely pathogenic"	""
"0000658153"	"0"	"50"	"17"	"42977229"	"42977229"	"subst"	"0"	"01804"	"EFTUD2_000125"	"g.42977229T>C"	""	""	""	"CCDC103(NM_001258397.1):c.-10+2T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44899861T>C"	""	"VUS"	""
"0000659490"	"0"	"70"	"17"	"42957006"	"42957006"	"subst"	"0"	"03633"	"EFTUD2_000123"	"g.42957006C>T"	""	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44879638C>T"	""	"likely pathogenic"	""
"0000659491"	"0"	"90"	"17"	"42953314"	"42953314"	"subst"	"0"	"03633"	"EFTUD2_000122"	"g.42953314T>C"	""	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44875946T>C"	""	"likely pathogenic"	""
"0000659492"	"0"	"90"	"17"	"42945175"	"42945175"	"subst"	"0"	"03633"	"EFTUD2_000121"	"g.42945175C>G"	""	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44867807C>G"	""	"likely pathogenic"	""
"0000659494"	"0"	"50"	"17"	"42931652"	"42931652"	"subst"	"0"	"03633"	"EFTUD2_000120"	"g.42931652G>A"	""	"{DOI:Thomas 2020:10.1002/humu.24027}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.44854284G>A"	""	"VUS"	""
"0000659526"	"0"	"90"	"17"	"42962682"	"42962683"	"ins"	"0"	"01807"	"EFTUD2_000119"	"g.42962682_42962683insA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44885314_44885315insA"	""	"pathogenic"	""
"0000665816"	"0"	"70"	"17"	"42930712"	"42930712"	"subst"	"0"	"01807"	"EFTUD2_000126"	"g.42930712G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44853344G>T"	""	"likely pathogenic"	""
"0000667857"	"0"	"97"	"17"	"1"	"1"	""	"0"	"03693"	"EFTUD2_000127"	"g.0"	""	""	""	""	"genomic dna change not provided on report"	"De novo"	"yes"	""	"0"	""	""	"g.44868282C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000673970"	"0"	"70"	"17"	"42953301"	"42953301"	"subst"	"0"	"03695"	"EFTUD2_000128"	"g.42953301C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44875933C>T"	""	"likely pathogenic"	""
"0000694165"	"11"	"50"	"17"	"42937371"	"42937371"	"subst"	"0.00000406131"	"00006"	"EFTUD2_000129"	"g.42937371T>C"	""	"{PMID:Granadillo 2020:32152250}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000726454"	"0"	"30"	"17"	"42945648"	"42945652"	"del"	"0.00547854"	"01943"	"EFTUD2_000022"	"g.42945648_42945652del"	""	""	""	"EFTUD2(NM_001142605.1):c.953+3_953+7del (p.?), EFTUD2(NM_001258353.1):c.1058+3_1058+7delAAGTA, EFTUD2(NM_001258353.2):c.1058+3_1058+7delAAGTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808043"	"0"	"50"	"17"	"42937885"	"42937885"	"subst"	"0"	"02325"	"EFTUD2_000130"	"g.42937885G>A"	""	""	""	"EFTUD2(NM_004247.4):c.1634C>T (p.P545L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854950"	"0"	"30"	"17"	"42942433"	"42942433"	"subst"	"0.000105887"	"01943"	"EFTUD2_000132"	"g.42942433C>T"	""	""	""	"EFTUD2(NM_001258353.1):c.1150G>A (p.V384I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854951"	"0"	"30"	"17"	"42949807"	"42949807"	"subst"	"0.000443003"	"01804"	"EFTUD2_000133"	"g.42949807C>T"	""	""	""	"EFTUD2(NM_001142605.1):c.889+7G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854952"	"0"	"30"	"17"	"42964126"	"42964126"	"subst"	"0.0000832002"	"01943"	"EFTUD2_000134"	"g.42964126C>G"	""	""	""	"EFTUD2(NM_001258353.1):c.106-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854953"	"0"	"30"	"17"	"42964127"	"42964127"	"subst"	"0.0000790613"	"01943"	"EFTUD2_000135"	"g.42964127A>G"	""	""	""	"EFTUD2(NM_001258353.1):c.106-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865315"	"0"	"70"	"17"	"42932341"	"42932341"	"subst"	"0"	"02329"	"EFTUD2_000131"	"g.42932341C>T"	""	""	""	"EFTUD2(NM_001258353.1):c.2077G>A (p.E693K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000865316"	"0"	"90"	"17"	"42953387"	"42953387"	"subst"	"0"	"02329"	"EFTUD2_000003"	"g.42953387G>A"	""	""	""	"EFTUD2(NM_001258353.1):c.784C>T (p.R262W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000871143"	"0"	"70"	"17"	"42931953"	"42931953"	"subst"	"0"	"00006"	"EFTUD2_000136"	"g.42931953T>G"	""	"{PMID:Halvardson 2016:27334371}"	""	"A2230C (I744L)"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes EFTUD2
## Count = 170
"{{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}}"
"0000019212"	"00001809"	"55"	"1963"	"0"	"3906"	"0"	"c.1963-?_(*987_?)del"	"r.del"	"p.?"	"19i_28"
"0000019222"	"00001809"	"99"	"784"	"0"	"802"	"0"	"c.[784_787delCGGC;791_802dupTCCTGGAGCTGA]"	"r.(?)"	"p.(Arg262*)"	"10"
"0000019223"	"00001809"	"99"	"1172"	"0"	"1179"	"0"	"c.1172_1179del"	"r.(?)"	"p.(Ser391Thrfs*57)"	"14"
"0000019225"	"00001809"	"55"	"-170573"	"0"	"139540"	"0"	"c.-170573_*136621del"	"r.0?"	"p.0?"	""
"0000019227"	"00001809"	"99"	"784"	"0"	"784"	"0"	"c.784C>T"	"r.(?)"	"p.(Arg262Trp)"	"10"
"0000020560"	"00001809"	"99"	"2155"	"0"	"2155"	"0"	"c.2155C>T"	"r.(?)"	"p.(Gln719*)"	"22"
"0000020561"	"00001809"	"99"	"2493"	"0"	"2493"	"0"	"c.2493C>A"	"r.(?)"	"p.(Tyr831*)"	"25"
"0000020562"	"00001809"	"99"	"1607"	"3"	"1607"	"3"	"c.1607+3A>G"	"r.spl?"	"p.?"	"i16"
"0000020563"	"00001809"	"99"	"1910"	"0"	"1910"	"0"	"c.1910T>G"	"r.(?)"	"p.(Leu637Arg)"	"19"
"0000020564"	"00001809"	"99"	"1426"	"0"	"1426"	"0"	"c.1426T>C"	"r.(?)"	"p.(Cys476Arg)"	"16"
"0000020565"	"00001809"	"99"	"2770"	"0"	"2770"	"0"	"c.2770C>T"	"r.(?)"	"p.(Gln942*)"	"27"
"0000020566"	"00001809"	"99"	"1759"	"0"	"1760"	"0"	"c.1759_1760del"	"r.(?)"	"p.(Val587Tyrfs*18)"	"18"
"0000020570"	"00001809"	"99"	"-9221"	"0"	"351"	"0"	"c.(-9700_-8742)_(350+150_351-400)del"	"r.0?"	"p.0?"	"_1_4i"
"0000020571"	"00001809"	"99"	"-21246"	"0"	"272"	"0"	"c.(-21750_-20742)_(271+479_272-1)del"	"r.0?"	"p.0?"	"_1_3i"
"0000020572"	"00001809"	"99"	"2259"	"1"	"2259"	"1"	"c.2259+1G>A"	"r.spl?"	"p.?"	"22i"
"0000020573"	"00001809"	"99"	"2619"	"0"	"2621"	"0"	"c.2619_2621delinsGGTC"	"r.(?)"	"p.(Phe874Valfs*11)"	"26"
"0000020577"	"00001809"	"99"	"1705"	"0"	"1705"	"0"	"c.1705C>T"	"r.(?)"	"p.(Arg569*)"	"17"
"0000020578"	"00001809"	"77"	"619"	"1"	"619"	"1"	"c.619+1G>A"	"r.spl?"	"p.?"	"8i"
"0000020579"	"00001809"	"77"	"623"	"0"	"623"	"0"	"c.623A>G"	"r.(?)"	"p.(His208Arg)"	"9"
"0000020580"	"00001809"	"99"	"2198"	"0"	"2198"	"0"	"c.2198G>A"	"r.(?)"	"p.(Trp733*)"	"22"
"0000020581"	"00001809"	"33"	"2347"	"66"	"2347"	"66"	"c.2347+66A>G"	"r.(spl?)"	"p.(?)"	"23i"
"0000020582"	"00001809"	"77"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Gly224Arg)"	"9"
"0000020583"	"00001809"	"77"	"2823"	"1"	"2823"	"1"	"c.2823+1del"	"r.spl?"	"p.?"	"27i"
"0000020593"	"00001809"	"77"	"2823"	"1"	"2823"	"1"	"c.2823+1del"	"r.spl?"	"p.?"	"27i"
"0000020594"	"00001809"	"73"	"1058"	"3"	"1058"	"7"	"c.1058+3_1058+7del"	"r.(spl?)"	"p.?"	"12i"
"0000020595"	"00001809"	"99"	"2496"	"0"	"2496"	"0"	"c.2496C>G"	"r.(?)"	"p.(Tyr832*)"	"25"
"0000020596"	"00001809"	"77"	"2485"	"0"	"2485"	"0"	"c.2485G>A"	"r.(?)"	"p.(Glu829Lys)"	"25"
"0000020758"	"00001809"	"77"	"994"	"1"	"994"	"1"	"c.994+1G>C"	"r.spl?"	"p.?"	"i11"
"0000020759"	"00001809"	"77"	"994"	"1"	"994"	"1"	"c.994+1G>C"	"r.spl?"	"p.?"	"i11"
"0000020760"	"00001809"	"77"	"994"	"1"	"994"	"1"	"c.994+1G>C"	"r.spl?"	"p.?"	"11i"
"0000020762"	"00001809"	"99"	"2622"	"0"	"2622"	"0"	"c.2622dup"	"r.(?)"	"p.(Ile875Tyrfs*10)"	"26"
"0000020763"	"00001809"	"99"	"2622"	"0"	"2622"	"0"	"c.2622dup"	"r.(?)"	"p.(Ile875Tyrfs*10)"	"26"
"0000020778"	"00001809"	"99"	"594"	"0"	"594"	"0"	"c.594T>G"	"r.(?)"	"p.(Tyr198*)"	"8"
"0000020784"	"00001809"	"99"	"2562"	"-1"	"2562"	"-1"	"c.2562-1G>C"	"r.[=, 2562_2577del, 2467_2577del, 2562_2715del]"	"p.[=, Gly855Metfs*75, Ala823_Gln895del, Gly855Leufs*29]"	"i25"
"0000020789"	"00001809"	"77"	"351"	"-1"	"351"	"-1"	"c.351-1G>A"	"r.spl?"	"p.?"	"i4"
"0000022963"	"00001809"	"75"	"198"	"0"	"198"	"0"	"c.198C>G"	"r.(?)"	"p.(Tyr66*)"	"3"
"0000022964"	"00001809"	"75"	"351"	"-1"	"351"	"-1"	"c.351-1G>C"	"r.spl?"	"p.?"	"4i"
"0000022965"	"00001809"	"75"	"498"	"0"	"498"	"0"	"c.498C>A"	"r.(?)"	"p.(Cys166*)"	"7"
"0000022966"	"00001809"	"75"	"529"	"-1"	"529"	"-1"	"c.529-1G>A"	"r.spl?"	"p.?"	"7i"
"0000022967"	"00001809"	"75"	"702"	"1"	"702"	"1"	"c.702+1del"	"r.spl?"	"p.?"	"9i"
"0000022968"	"00001809"	"75"	"745"	"0"	"745"	"0"	"c.745G>T"	"r.(?)"	"p.(Glu249*)"	"10"
"0000022969"	"00001809"	"75"	"1149"	"5"	"1149"	"5"	"c.1149+5G>T"	"r.spl?"	"p.?"	"13i"
"0000022970"	"00001809"	"75"	"1435"	"0"	"1435"	"0"	"c.1435dup"	"r.(?)"	"p.(Thr479Asnfs*2)"	"16"
"0000022971"	"00001809"	"75"	"1860"	"0"	"1860"	"0"	"c.1860G>C"	"r.(?)"	"p.(Lys620Asn)"	"18"
"0000022972"	"00001809"	"75"	"1962"	"1"	"1962"	"1"	"c.1962+1G>A"	"r.spl?"	"p.?"	"19i"
"0000022973"	"00001809"	"75"	"702"	"5"	"702"	"5"	"c.702+5G>C"	"r.spl?"	"p.?"	"9i"
"0000022974"	"00001809"	"75"	"1976"	"0"	"1976"	"0"	"c.1976delinsCCACC"	"r.(?)"	"p.(Val659Alafs*7)"	"20"
"0000022975"	"00001809"	"75"	"2245"	"0"	"2245"	"0"	"c.2245dup"	"r.(?)"	"p.(Thr749Asnfs*5)"	"22"
"0000022976"	"00001809"	"75"	"2296"	"0"	"2296"	"0"	"c.2296del"	"r.(?)"	"p.(Ile766Serfs*18)"	"23"
"0000022977"	"00001809"	"75"	"2467"	"-1"	"2467"	"-1"	"c.2467-1G>T"	"r.spl?"	"p.?"	"24i"
"0000022978"	"00001809"	"75"	"2562"	"-1"	"2562"	"-1"	"c.2562-1G>A"	"r.spl?"	"p.?"	"25i"
"0000022979"	"00001809"	"75"	"2562"	"-2"	"2562"	"-1"	"c.2562-2_2562-1del"	"r.spl?"	"p.?"	"25i"
"0000022980"	"00001809"	"75"	"2562"	"-2"	"2562"	"-1"	"c.2562-2_2562-1del"	"r.spl?"	"p.?"	"25i"
"0000022981"	"00001809"	"75"	"2562"	"-2"	"2562"	"-1"	"c.2562-2_2562-1del"	"r.spl?"	"p.?"	"25i"
"0000022982"	"00001809"	"75"	"2562"	"-2"	"2562"	"-2"	"c.2562-2del"	"r.spl?"	"p.?"	"25i"
"0000022983"	"00001809"	"75"	"2562"	"-2"	"2562"	"-2"	"c.2562-2del"	"r.spl?"	"p.?"	"25i"
"0000022984"	"00001809"	"75"	"2562"	"-2"	"2562"	"-2"	"c.2562-2del"	"r.spl?"	"p.?"	"25i"
"0000022985"	"00001809"	"55"	"2566"	"0"	"2566"	"0"	"c.2566C>T"	"r.(?)"	"p.(His856Tyr)"	"26"
"0000022986"	"00001809"	"75"	"2823"	"1"	"2823"	"1"	"c.2823+1del"	"r.spl?"	"p.?"	"27i"
"0000031002"	"00001809"	"75"	"994"	"5"	"994"	"5"	"c.994+5G>A"	"r.(spl?)"	"p.?"	"11i"
"0000031003"	"00001809"	"99"	"698"	"0"	"698"	"0"	"c.698del"	"r.(?)"	"p.(Glu233Glyfs*3)"	"9"
"0000067091"	"00001809"	"99"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.Leu5Tyrfs*41"	"2"
"0000067096"	"00001809"	"99"	"105"	"0"	"105"	"0"	"c.105G>A"	"r.7_111del"	"p.Thr3_Asp37del"	"2"
"0000067097"	"00001809"	"99"	"106"	"-2"	"106"	"-2"	"c.106-2A>G"	"r.spl?"	"p.?"	""
"0000067098"	"00001809"	"99"	"208"	"0"	"208"	"0"	"c.208G>T"	"r.(?)"	"p.Glu70*"	"3"
"0000067099"	"00001809"	"99"	"272"	"-9"	"282"	"0"	"c.272-9_282del"	"r.272_350del"	"p.Glu91Valfs*6"	"4"
"0000067100"	"00001809"	"99"	"0"	"0"	"0"	"0"	"c.[427-2delA;427-7C>T]"	"r.spl?"	"p.?"	""
"0000067101"	"00001809"	"99"	"492"	"1"	"492"	"1"	"c.492+1G>A"	"r.spl?"	"p.?"	""
"0000067102"	"00001809"	"77"	"702"	"5"	"702"	"5"	"c.702+5G>A"	"r.(spl?)"	"p.?"	""
"0000067103"	"00001809"	"77"	"702"	"5"	"702"	"5"	"c.702+5G>A"	"r.(spl?)"	"p.?"	""
"0000067118"	"00001809"	"99"	"784"	"0"	"784"	"0"	"c.784C>T"	"r.(?)"	"p.Arg262Trp"	"10"
"0000067119"	"00001809"	"99"	"1052"	"0"	"1052"	"0"	"c.1052del"	"r.(?)"	"p.Pro351Leufs*35"	"12"
"0000067121"	"00001809"	"99"	"1297"	"0"	"1298"	"0"	"c.1297_1298del"	"r.(?)"	"p.Met433Valfs*17"	"15"
"0000067122"	"00001809"	"99"	"1297"	"0"	"1298"	"0"	"c.1297_1298del"	"r.(?)"	"p.Met433Valfs*17"	"15"
"0000067124"	"00001809"	"77"	"1496"	"0"	"1496"	"0"	"c.1496G>A"	"r.(?)"	"p.Gly499Asp"	"16"
"0000067125"	"00001809"	"99"	"1705"	"0"	"1705"	"0"	"c.1705C>T"	"r.(?)"	"p.Arg569*"	"17"
"0000067126"	"00001809"	"99"	"1732"	"0"	"1732"	"0"	"c.1732C>T"	"r.(?)"	"p.Arg578*"	"18"
"0000067127"	"00001809"	"99"	"1732"	"0"	"1732"	"0"	"c.1732C>T"	"r.(?)"	"p.Arg578*"	"18"
"0000067128"	"00001809"	"99"	"1861"	"-2"	"1861"	"-2"	"c.1861-2A>G"	"r.spl?"	"p.?"	""
"0000067129"	"00001809"	"99"	"1963"	"-2"	"1963"	"-2"	"c.1963-2A>T"	"r.1963_2045del"	"p.Val655Glufs*8"	""
"0000067130"	"00001809"	"77"	"2033"	"0"	"2033"	"0"	"c.2033C>A"	"r.(?)"	"p.Thr678Lys"	"20"
"0000067131"	"00001809"	"99"	"2045"	"1"	"2045"	"1"	"c.2045+1G>A"	"r.spl?"	"p.?"	""
"0000067132"	"00001809"	"99"	"2045"	"2"	"2045"	"2"	"c.2045+2T>G"	"r.spl?"	"p.?"	""
"0000067133"	"00001809"	"77"	"2305"	"0"	"2305"	"0"	"c.2305G>C"	"r.(?)"	"p.Gly769Arg"	"23"
"0000067134"	"00001809"	"99"	"2335"	"0"	"2335"	"0"	"c.2335dup"	"r.(?)"	"p.Leu779Profs*3"	"23"
"0000067135"	"00001809"	"99"	"2496"	"0"	"2496"	"0"	"c.2496C>G"	"r.(?)"	"p.Tyr832*"	"25"
"0000067136"	"00001809"	"99"	"2698"	"0"	"2701"	"0"	"c.2698_2701del"	"r.(?)"	"p.Val900Serfs*34"	"26"
"0000067137"	"00001809"	"77"	"2813"	"0"	"2813"	"0"	"c.2813G>A"	"r.(?)"	"p.Arg938His"	"27"
"0000067138"	"00001809"	"77"	"2823"	"1"	"2823"	"1"	"c.2823+1G>T"	"r.spl?"	"p.?"	""
"0000067139"	"00001809"	"90"	"994"	"5"	"921036"	"0"	"c.994+5_*918117del"	"r.?"	"p.?"	"11i_28_"
"0000072969"	"00001809"	"99"	"602"	"0"	"602"	"0"	"c.602dup"	"r.(?)"	"p.Asn201Lysfs*13"	"8"
"0000072970"	"00001809"	"99"	"2253"	"0"	"2253"	"0"	"c.2253del"	"r.(?)"	"p.Ser752Leufs*11"	"22"
"0000072971"	"00001809"	"97"	"2467"	"0"	"2467"	"0"	"c.2467G>A"	"r.(?)"	"p.Ala823Thr"	"25"
"0000072972"	"00001809"	"99"	"2770"	"0"	"2770"	"0"	"c.2770C>T"	"r.(?)"	"p.Gln924*"	"26"
"0000072973"	"00001809"	"99"	"933"	"0"	"933"	"0"	"c.933dup"	"r.(?)"	"p.Ser312Leufs*22"	"11"
"0000072974"	"00001809"	"99"	"1732"	"0"	"1732"	"0"	"c.1732C>T"	"r.(?)"	"p.Arg578*"	"18"
"0000072975"	"00001809"	"99"	"1435"	"0"	"1435"	"0"	"c.1435dup"	"r.(?)"	"p.Thr479Asnfs*2"	"16"
"0000072976"	"00001809"	"97"	"784"	"0"	"784"	"0"	"c.784C>T"	"r.(?)"	"p.Arg262Trp"	"10"
"0000072977"	"00001809"	"97"	"0"	"0"	"0"	"0"	"c.[1859A>T;1860+3_1860+4delinsGAG]"	"r.1720_1860"	"p.Ala574_Lys620del"	"18"
"0000073960"	"00001809"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_28_"
"0000079426"	"00001809"	"00"	"2046"	"-77"	"10661"	"0"	"c.2046-77_*7742del"	"r.(?)"	"p.(Asn683_Met972delinsTyrLysAsn)"	""
"0000170306"	"00001809"	"70"	"876"	"0"	"876"	"0"	"c.876T>G"	"r.(?)"	"p.(Tyr292*)"	"11"
"0000247916"	"00001809"	"10"	"762"	"0"	"762"	"0"	"c.762T>C"	"r.(?)"	"p.(Thr254=)"	""
"0000253177"	"00001809"	"10"	"762"	"0"	"762"	"0"	"c.762T>C"	"r.(?)"	"p.(Thr254=)"	""
"0000266521"	"00001809"	"10"	"-3457"	"0"	"-3457"	"0"	"c.-3457C>T"	"r.(?)"	"p.(=)"	""
"0000266522"	"00001809"	"10"	"-2938"	"0"	"-2938"	"0"	"c.-2938G>T"	"r.(?)"	"p.(=)"	""
"0000267772"	"00001809"	"10"	"1058"	"3"	"1058"	"7"	"c.1058+3_1058+7del"	"r.spl?"	"p.?"	""
"0000267773"	"00001809"	"10"	"426"	"8"	"426"	"8"	"c.426+8G>A"	"r.(=)"	"p.(=)"	""
"0000267774"	"00001809"	"10"	"994"	"6"	"994"	"6"	"c.994+6C>T"	"r.(=)"	"p.(=)"	""
"0000271099"	"00001809"	"90"	"1963"	"-1"	"1963"	"-1"	"c.1963-1G>A"	"r.spl?"	"p.?"	""
"0000271100"	"00001809"	"90"	"2674"	"0"	"2674"	"0"	"c.2674C>T"	"r.(?)"	"p.(Gln892Ter)"	""
"0000275992"	"00001809"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298del"	"r.(?)"	"p.(Met433ValfsTer17)"	""
"0000275993"	"00001809"	"50"	"1399"	"0"	"1399"	"0"	"c.1399G>T"	"r.(?)"	"p.(Asp467Tyr)"	""
"0000275994"	"00001809"	"10"	"2466"	"26"	"2466"	"26"	"c.2466+26C>T"	"r.(=)"	"p.(=)"	""
"0000275995"	"00001809"	"10"	"2715"	"18"	"2715"	"18"	"c.2715+18G>C"	"r.(=)"	"p.(=)"	""
"0000275996"	"00001809"	"10"	"426"	"8"	"426"	"8"	"c.426+8G>A"	"r.(=)"	"p.(=)"	""
"0000275997"	"00001809"	"90"	"793"	"0"	"793"	"0"	"c.793del"	"r.(?)"	"p.(Leu265TrpfsTer3)"	""
"0000275998"	"00001809"	"10"	"994"	"6"	"994"	"6"	"c.994+6C>T"	"r.(=)"	"p.(=)"	""
"0000325439"	"00001809"	"50"	"6022"	"0"	"6022"	"0"	"c.*3103A>G"	"r.(=)"	"p.(=)"	""
"0000325440"	"00001809"	"50"	"4865"	"0"	"4865"	"0"	"c.*1946T>C"	"r.(=)"	"p.(=)"	""
"0000325444"	"00001809"	"50"	"1607"	"2"	"1607"	"2"	"c.1607+2T>A"	"r.spl?"	"p.?"	""
"0000325445"	"00001809"	"50"	"1420"	"0"	"1420"	"0"	"c.1420del"	"r.(?)"	"p.(Leu474Ter)"	""
"0000325446"	"00001809"	"30"	"1058"	"3"	"1058"	"7"	"c.1058+3_1058+7del"	"r.spl?"	"p.?"	""
"0000325447"	"00001809"	"50"	"-1669"	"0"	"-1669"	"0"	"c.-1669A>G"	"r.(?)"	"p.(=)"	""
"0000325448"	"00001809"	"30"	"-3434"	"0"	"-3434"	"0"	"c.-3434T>C"	"r.(?)"	"p.(=)"	""
"0000338076"	"00001809"	"70"	"1720"	"-1"	"1720"	"-1"	"c.1720-1G>A"	"r.spl?"	"p.?"	""
"0000338077"	"00001809"	"10"	"426"	"8"	"426"	"8"	"c.426+8G>A"	"r.(=)"	"p.(=)"	""
"0000338078"	"00001809"	"90"	"350"	"1"	"350"	"1"	"c.350+1G>A"	"r.spl?"	"p.?"	""
"0000340066"	"00001809"	"10"	"762"	"0"	"762"	"0"	"c.762T>C"	"r.(?)"	"p.(Thr254=)"	""
"0000342457"	"00001809"	"90"	"784"	"0"	"784"	"0"	"c.784C>T"	"r.(?)"	"p.(Arg262Trp)"	""
"0000342715"	"00001809"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Ter)"	""
"0000343125"	"00001809"	"90"	"1732"	"0"	"1732"	"0"	"c.1732C>T"	"r.(?)"	"p.(Arg578Ter)"	""
"0000344181"	"00001809"	"50"	"2167"	"0"	"2167"	"0"	"c.2167G>T"	"r.(?)"	"p.(Asp723Tyr)"	""
"0000345583"	"00001809"	"90"	"2650"	"0"	"2650"	"0"	"c.2650G>T"	"r.(?)"	"p.(Glu884Ter)"	""
"0000349249"	"00001809"	"90"	"334"	"0"	"334"	"0"	"c.334dup"	"r.(?)"	"p.(Thr112AsnfsTer4)"	""
"0000349468"	"00001809"	"70"	"1058"	"0"	"1058"	"0"	"c.1058C>T"	"r.(?)"	"p.(Thr353Met)"	""
"0000404691"	"00001809"	"70"	"2047"	"0"	"2047"	"0"	"c.2047A>T"	"r.(?)"	"p.(Asn683Tyr)"	"21"
"0000561942"	"00001809"	"30"	"3838"	"0"	"3838"	"0"	"c.*919C>T"	"r.(=)"	"p.(=)"	""
"0000561943"	"00001809"	"30"	"3814"	"0"	"3814"	"0"	"c.*895C>T"	"r.(=)"	"p.(=)"	""
"0000561944"	"00001809"	"50"	"2891"	"0"	"2891"	"0"	"c.2891A>G"	"r.(?)"	"p.(Gln964Arg)"	""
"0000561945"	"00001809"	"50"	"2536"	"0"	"2536"	"0"	"c.2536G>A"	"r.(?)"	"p.(Val846Ile)"	""
"0000561947"	"00001809"	"70"	"1607"	"3"	"1607"	"3"	"c.1607+3A>G"	"r.spl?"	"p.?"	""
"0000561948"	"00001809"	"90"	"1546"	"0"	"1546"	"0"	"c.1546del"	"r.(?)"	"p.(Leu516TrpfsTer26)"	""
"0000561949"	"00001809"	"30"	"1505"	"0"	"1505"	"0"	"c.1505A>G"	"r.(?)"	"p.(His502Arg)"	""
"0000561950"	"00001809"	"10"	"984"	"0"	"984"	"0"	"c.984C>T"	"r.(?)"	"p.(Ala328=)"	""
"0000561951"	"00001809"	"50"	"758"	"0"	"758"	"0"	"c.758T>A"	"r.(?)"	"p.(Val253Asp)"	""
"0000561953"	"00001809"	"90"	"380"	"0"	"381"	"0"	"c.380_381del"	"r.(?)"	"p.(Glu127AlafsTer24)"	""
"0000561955"	"00001809"	"30"	"-1704"	"0"	"-1704"	"0"	"c.-1704C>T"	"r.(?)"	"p.(=)"	""
"0000616629"	"00001809"	"70"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Ter)"	""
"0000647211"	"00001809"	"70"	"271"	"1"	"271"	"1"	"c.271+1G>A"	"r.spl"	"p.?"	"3i"
"0000655960"	"00001809"	"90"	"428"	"0"	"428"	"0"	"c.428C>T"	"r.(?)"	"p.(Thr143Ile)"	"5"
"0000658153"	"00001809"	"50"	"-497"	"0"	"-497"	"0"	"c.-497A>G"	"r.(?)"	"p.(=)"	""
"0000659490"	"00001809"	"70"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.(?)"	"p.(Gly207Glu)"	"9"
"0000659491"	"00001809"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.spl"	"p.(Asn286Ser)"	"10"
"0000659492"	"00001809"	"90"	"1149"	"0"	"1149"	"0"	"c.1149G>C"	"r.(?)"	"p.(Gln383His)"	"13"
"0000659494"	"00001809"	"50"	"2332"	"0"	"2332"	"0"	"c.2332C>T"	"r.(?)"	"p.(Pro778Ser)"	"23"
"0000659526"	"00001809"	"90"	"291"	"0"	"292"	"0"	"c.291_292insT"	"r.(?)"	"p.(Lys98Ter)"	""
"0000665816"	"00001809"	"70"	"2513"	"0"	"2513"	"0"	"c.2513C>A"	"r.(?)"	"p.(Ala838Asp)"	""
"0000667857"	"00001809"	"97"	"1058"	"5"	"1058"	"5"	"c.1058+5G>A"	"r.spl?"	"p.?"	"Intron 12"
"0000673970"	"00001809"	"70"	"869"	"1"	"869"	"1"	"c.869+1G>A"	"r.spl?"	"p.?"	""
"0000694165"	"00001809"	"50"	"1762"	"0"	"1762"	"0"	"c.1762A>G"	"r.(?)"	"p.(Ile588Val)"	""
"0000726454"	"00001809"	"30"	"1058"	"3"	"1058"	"7"	"c.1058+3_1058+7del"	"r.spl?"	"p.?"	""
"0000808043"	"00001809"	"50"	"1634"	"0"	"1634"	"0"	"c.1634C>T"	"r.(?)"	"p.(Pro545Leu)"	""
"0000854950"	"00001809"	"30"	"1150"	"0"	"1150"	"0"	"c.1150G>A"	"r.(?)"	"p.(Val384Ile)"	""
"0000854951"	"00001809"	"30"	"994"	"7"	"994"	"7"	"c.994+7G>A"	"r.(=)"	"p.(=)"	""
"0000854952"	"00001809"	"30"	"106"	"-8"	"106"	"-8"	"c.106-8G>C"	"r.(=)"	"p.(=)"	""
"0000854953"	"00001809"	"30"	"106"	"-9"	"106"	"-9"	"c.106-9T>C"	"r.(=)"	"p.(=)"	""
"0000865315"	"00001809"	"70"	"2077"	"0"	"2077"	"0"	"c.2077G>A"	"r.(?)"	"p.(Glu693Lys)"	""
"0000865316"	"00001809"	"90"	"784"	"0"	"784"	"0"	"c.784C>T"	"r.(?)"	"p.(Arg262Trp)"	""
"0000871143"	"00001809"	"70"	"2230"	"0"	"2230"	"0"	"c.2230A>C"	"r.(?)"	"p.(Ile744Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 78
"{{screeningid}}"	"{{variantid}}"
"0000001433"	"0000019212"
"0000001434"	"0000019222"
"0000001435"	"0000019223"
"0000001436"	"0000019225"
"0000001437"	"0000019227"
"0000002292"	"0000020560"
"0000002293"	"0000020561"
"0000002294"	"0000020562"
"0000002295"	"0000020563"
"0000002296"	"0000020564"
"0000002297"	"0000020565"
"0000002298"	"0000020566"
"0000002301"	"0000020570"
"0000002302"	"0000020571"
"0000002303"	"0000020572"
"0000002304"	"0000020573"
"0000002309"	"0000020577"
"0000002310"	"0000020578"
"0000002312"	"0000020579"
"0000002313"	"0000020580"
"0000002314"	"0000020581"
"0000002315"	"0000020582"
"0000002316"	"0000020583"
"0000002317"	"0000020593"
"0000002326"	"0000020594"
"0000002327"	"0000020595"
"0000002328"	"0000020596"
"0000002478"	"0000020758"
"0000002479"	"0000020759"
"0000002480"	"0000020760"
"0000002482"	"0000020762"
"0000002484"	"0000020763"
"0000002498"	"0000020778"
"0000002499"	"0000020784"
"0000002509"	"0000020789"
"0000004057"	"0000022963"
"0000004058"	"0000022964"
"0000004059"	"0000022965"
"0000004060"	"0000022966"
"0000004061"	"0000022967"
"0000004063"	"0000022968"
"0000004064"	"0000022969"
"0000004065"	"0000022970"
"0000004066"	"0000022971"
"0000004067"	"0000022972"
"0000004068"	"0000022973"
"0000004069"	"0000022974"
"0000004070"	"0000022975"
"0000004071"	"0000022976"
"0000004072"	"0000022977"
"0000004073"	"0000022978"
"0000004074"	"0000022979"
"0000004075"	"0000022980"
"0000004076"	"0000022981"
"0000004077"	"0000022982"
"0000004078"	"0000022983"
"0000004079"	"0000022984"
"0000004080"	"0000022985"
"0000004081"	"0000022986"
"0000011375"	"0000031002"
"0000011376"	"0000031003"
"0000039064"	"0000067139"
"0000046436"	"0000073960"
"0000050446"	"0000079426"
"0000105044"	"0000170306"
"0000181055"	"0000404691"
"0000290528"	"0000647211"
"0000296843"	"0000655960"
"0000296844"	"0000659490"
"0000296845"	"0000659491"
"0000296847"	"0000659492"
"0000296848"	"0000659494"
"0000296876"	"0000659526"
"0000302526"	"0000665816"
"0000304415"	"0000667857"
"0000307347"	"0000673970"
"0000312557"	"0000694165"
"0000413635"	"0000871143"