### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHD3)
# 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}}"
"CHD3"	"chromodomain helicase DNA binding protein 3"	"17"	"p13"	"unknown"	"NC_000017.10"	"UD_132438809820"	""	"https://www.LOVD.nl/CHD3"	""	"1"	"1918"	"1107"	"602120"	"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"	"https://databases.lovd.nl/shared/refseq/CHD3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-12-28 20:09:07"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00005080"	"CHD3"	"transcript variant 1"	"002"	"NM_001005273.2"	""	"NP_001005273.1"	""	""	""	"-150"	"7175"	"6003"	"7792169"	"7816075"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02412"	"SPCH"	"speech-language disorder (SPCH)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-02-14 16:20:22"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05677"	"SNIBCPS"	"Snijders Blok-Campeau syndrome"	"AD"	"618205"	""	""	""	"00006"	"2019-12-28 20:08:02"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CHD3"	"05677"


## Individuals ## Do not remove or alter this header ##
## Count = 68
"{{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}}"
"00274276"	""	""	""	"2"	""	"00679"	""	"family, 2 affected"	"M"	""	"United States"	""	"0"	""	""	""	"Fam1Pat1"
"00274277"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 2"
"00275839"	""	""	"00274276"	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Fam1Pat2"
"00275840"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 3"
"00275841"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 4"
"00275842"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 5"
"00275843"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 6"
"00275844"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 7"
"00275845"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 8"
"00275846"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 9"
"00275847"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 10"
"00275848"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 11"
"00275849"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 12"
"00275850"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 13"
"00275851"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 14"
"00275852"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 15"
"00275853"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 16"
"00275854"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 17"
"00275855"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 18"
"00275856"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 19"
"00275857"	""	""	""	"1"	""	"00679"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"Subject 20"
"00275858"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 21"
"00275859"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 22"
"00275860"	""	""	""	"1"	""	"00679"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"Subject 23"
"00275861"	""	""	""	"1"	""	"00006"	"{PMID:Eising 2018:29463886}, {PMID:Worthey 2013:24083349}"	"analysis 19 individuals with childhood apraxia of speech"	"M"	""	""	""	"0"	""	""	""	"Pat01/Pat8"
"00275891"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00275892"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00275893"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00275894"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00275895"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat5"
"00275896"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat6"
"00275897"	""	""	""	"2"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	"2-generation family, affected sister/brother (mother mosaic)"	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00275898"	""	""	"00275897"	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	"brother"	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00275899"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat9"
"00275900"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat10"
"00275901"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat11"
"00275902"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat12"
"00275903"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat13"
"00275904"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat14"
"00275905"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat15"
"00275906"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat16"
"00275907"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat17"
"00275908"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat18"
"00275909"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat19"
"00275910"	""	""	""	"2"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	"2-generation family, affected twin sisters"	"F"	""	""	""	"0"	""	""	""	"Pat20"
"00275911"	""	""	"00275910"	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	"twin sister"	"F"	""	""	""	"0"	""	""	""	"Pat21"
"00275912"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat22"
"00275913"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat23"
"00275914"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat24"
"00275915"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat25"
"00275916"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat26"
"00275917"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat27"
"00275918"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat28"
"00275919"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat29"
"00275920"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat30"
"00275921"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat31"
"00275922"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat32"
"00275923"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"F"	""	""	""	"0"	""	""	""	"Pat33"
"00275924"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat34"
"00275925"	""	""	""	"1"	""	"00006"	"{PMID:Snijders Blok 2018:30397230}"	""	"M"	""	""	""	"0"	""	""	""	"Pat35"
"00380228"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"182764"
"00390052"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"186363"
"00417496"	""	""	""	"12"	""	"00006"	"{PMID:Olivier 2021:32817297}"	"4-generation family, 12 affected (8F, 4M)"	"F;M"	""	"France"	""	"0"	""	""	""	"FamA"
"00434643"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"247631"
"00458022"	""	""	""	"1"	""	"04775"	"-"	"1 affeacted (F), unaffected parents"	"F"	"no"	"China"	"-"	"0"	"-"	"-"	"-"	"04775-subject1"
"00464699"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00466037"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00466430"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 68
"{{individualid}}"	"{{diseaseid}}"
"00274276"	"00198"
"00274277"	"00198"
"00275839"	"00198"
"00275840"	"00198"
"00275841"	"00198"
"00275842"	"00198"
"00275843"	"00198"
"00275844"	"00198"
"00275845"	"00198"
"00275846"	"00198"
"00275847"	"00198"
"00275848"	"00198"
"00275849"	"00198"
"00275850"	"00198"
"00275851"	"00198"
"00275852"	"00198"
"00275853"	"00198"
"00275854"	"00198"
"00275855"	"00198"
"00275856"	"00198"
"00275857"	"00198"
"00275858"	"00198"
"00275859"	"00198"
"00275860"	"00198"
"00275861"	"02412"
"00275891"	"05611"
"00275892"	"05611"
"00275893"	"05611"
"00275894"	"05611"
"00275895"	"05611"
"00275896"	"05611"
"00275897"	"05611"
"00275898"	"05611"
"00275899"	"05611"
"00275900"	"05611"
"00275901"	"05611"
"00275902"	"05611"
"00275903"	"05611"
"00275904"	"05611"
"00275905"	"05611"
"00275906"	"05611"
"00275907"	"05611"
"00275908"	"05611"
"00275909"	"05611"
"00275910"	"05611"
"00275911"	"05611"
"00275912"	"05611"
"00275913"	"05611"
"00275914"	"05611"
"00275915"	"05611"
"00275916"	"05611"
"00275917"	"05611"
"00275918"	"05611"
"00275919"	"05611"
"00275920"	"05611"
"00275921"	"05611"
"00275922"	"05611"
"00275923"	"05611"
"00275924"	"05611"
"00275925"	"05611"
"00380228"	"05677"
"00390052"	"05677"
"00417496"	"00112"
"00434643"	"05677"
"00458022"	"05677"
"00464699"	"05611"
"00466037"	"05611"
"00466430"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 02412, 05611, 05677
## Count = 68
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000210437"	"00198"	"00274276"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, prominent extra-axial spaces, corical visual impairment, severe intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210438"	"00198"	"00274277"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, strabismus, moderate-severe intelectual disability, turricephalus, high palate, median covered cleft palate, respiratory distress at birth, deep foot creases"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210439"	"00198"	"00275839"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, corical visual impairment, severe intelectual disability, unilateral undescended Testicle"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210440"	"00198"	"00275840"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, VSD, strabismus, mild-moderate intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210441"	"00198"	"00275841"	"00679"	"Isolated (sporadic)"	""	"microcephaly, severe intelectual disability, quadriparesis, dystonia, osteochondroma of humeri, right hip dysplasia, scoliosis, beaked nose, cleft palate"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210442"	"00198"	"00275842"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, delayed myelination, ASD, corical visual impairment, moderate-severe intelectual disability, partial thyroid agenesis, laryngomalacia, gastroesopjageal reflux, frequent infections, high pain treshold"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210443"	"00198"	"00275843"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, ASD, moderate intelectual disability, febrile seizures, apparent skin folds in neck, bruxism"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210444"	"00198"	"00275844"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, strabismus, moderate intelectual disability, unilateral ectopic testis, gastroesophageal reflux, dry skin, initial tracheomalacia"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210445"	"00198"	"00275845"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, moderate intelectual disability, camptodactyly of fingers 4/5,bulbous halluces, sloping shoulders"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210446"	"00198"	"00275846"	"00679"	"Isolated (sporadic)"	""	"moderate intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210447"	"00198"	"00275847"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, moderate intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210448"	"00198"	"00275848"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, prominent extra-axial spaces, mild intelectual disability, poor vaccine response, frequent respiratory infections, very low subcutaneous fat"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210449"	"00198"	"00275849"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, thin strip of hypopigmented hair over occiput, caf\'e-au-lait spot on chest"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210450"	"00198"	"00275850"	"00679"	"Isolated (sporadic)"	""	"delayed myelination, corical visual impairment"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210451"	"00198"	"00275851"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, strabismus, mild-moderate intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210452"	"00198"	"00275852"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, delayed myelination, moderate intelectual disability, umbilical hernia, osteoporosis, kidney stones"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210453"	"00198"	"00275853"	"00679"	"Isolated (sporadic)"	""	"mild intelectual disability, severe movement disorder with choreatic movements and stiff gait, high pain threshold"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210454"	"00198"	"00275854"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, severe intelectual disability, thick scarring, recurrent bilateral cavus foot deformity, very thin calves bilaterally"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210455"	"00198"	"00275855"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210456"	"00198"	"00275856"	"00679"	"Isolated (sporadic)"	""	"macrocephaly, dysmorphic features, strabismus, mild intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210457"	"00198"	"00275857"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, prominent extra-axial spaces, ASD"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210458"	"00198"	"00275858"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, prominent extra-axial spaces, mild intelectual disability, hypercalcemia"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210459"	"00198"	"00275859"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, strabismus, moderate-severe intelectual disability"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210460"	"00198"	"00275860"	"00679"	"Isolated (sporadic)"	""	"dysmorphic features, mild-moderate intelectual disability, PCOS, obesity, diabetes, syncopal episodes, broad hands, short fingers, dysplastic toe nails"	""	""	""	""	""	""	""	""	"SNIBCPS"	""	""
"0000210461"	"02412"	"00275861"	"00006"	"Unknown"	"9y"	"childhood apraxia of speech; late onset language use; IQ below average; gross or fine motor impairment; oral nonverbal motor impairment"	""	""	""	""	""	""	""	""	""	"childhood apraxia of speech"	""
"0000210490"	"05611"	"00275891"	"00006"	"Isolated (sporadic)"	"3y7m"	"global developmental delay; walk-1y10m; fine motor delay; first words-24m; speech three word sentences; received speech/language therapy; initially  dfficulties with repeating words, good understanding; can now very well communicate his wishes; developmental delay; autistic features; no ADHD/ADD; open towards others, sometimes difficult behaviour with temper tantrums in stress, hand-flapping; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; poor in motion transitions. Inward rotation of the feet when walking, slightly broad based; high forehead with frontal bossing; widely spaced eyes; normal teeth; high arched palate; no neonatal issues; normal vision; normal hearing; normal heart; orchidopexia performed; Hyperlaxity of all major joints; loves to eat, needs to be controlled by parents, intermittend hyperphosphatesia,"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210491"	"05611"	"00275892"	"00006"	"Isolated (sporadic)"	"3y"	"global developmental delay; walk-2y7m; fine motor delay; speech babbles only, uses some signs; received speech/language therapy; babbles only, some signs,receptive language is strong: knows letters, numbers, shapes, colors, has some sign language; developmental delay, probably normal intelligence with speech delay; no autism/autistic features; no ADHD/ADD; Happy, social, engaged with others. Affectionate, friendly, described as endearing. Good disposition. Sensory issues to loud noise, bright lights, swings; normal weight; normal height; macrocephaly; MRI-brain thin corpus callosum; no wide CSF spaces; hypotonia; no epilepsy, no seizures; broad based gait with arms flexed. slight external rotation of both lower extremities; high forehead with frontal bossing; no widely spaced eyes; normal teeth; high arched palate; one neonatal episode of hypoglycemia; hypermetropia; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; Hypotonia in legs; Brown syndrome, laryngeal cleft, patch of tan discloration of skin on back of neck and mid-back, obstructive sleep apnea"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210492"	"05611"	"00275893"	"00006"	"Isolated (sporadic)"	"4y"	"global developmental delay; walk-2y6m; fine motor delay; first words-1y6m; speech complete sentences; received speech/language therapy; speech/language delay; Borderline intellectual disability (verbal IQ 87, performance IQ 78); no autism/autistic features; attention deficit without hyperactivity; No other behavioral problems; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; dystonia, broad based gait; prominent forehead with frontal bossing; widely spaced eyes; teeth malposition; high arched palate; no neonatal issues; convergent strabism, astigmatism, hypermetropia; hyperacusis; normal heart; normal kidneys; no hernias; Joint hyperlaxity, adducted thumbs; pneumonitis, pyelonephritis"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210493"	"05611"	"00275894"	"00006"	"Isolated (sporadic)"	"2y3m"	"global developmental delay; no walking yet; fine motor delay; first words-1y6m; speech 3-4 words; received speech/language therapy; expressive speech delay. Receptive speech appears normal; developmental delay; no autism/autistic features; bruxism; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain subgaleal hematoma, no other abnormalities; no wide CSF spaces; hypotonia; no epilepsy, no seizures; normal; normal forehead; widely spaced eyes; missing maxillary lateral incisors; normal palate; neonatal cephalohematoma; congenital entropion; conductive hearing loss; normal heart; normal kidneys; left testis initially  undescended, now retractile. webbing between penis and scrotum; no hernias; no skeletal anomalies, no joint anomalies; Sleep apnea. non-pitting edema in feet"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210494"	"05611"	"00275895"	"00006"	"Isolated (sporadic)"	"15y"	"global developmental delay; no walking yet; fine motor delay; no speech; did not receive speech/language therapy; no speech; severe intellectual disability; no autism/autistic features; no ADHD/ADD; always pleasant in behaviour; weight <-2.5 SD; height <-2.5 SD; microcephaly; MRI-brain normal (except for microcephaly); no wide CSF spaces; hypotonia; no epilepsy, no seizures; spastic tetraplegia; sloping forehead; widely spaced eyes; large teeth; normal palate; neonatal feeding problems, PEG tube; normal vision; normal hearing; normal heart; normal kidneys; no hernias; severe orthopedic problems hip, feet. Luxations of thumbs, wrists, shoulders on young age, not anymore; unilateral choane atresia + hypoplastic epilglottis. Siallorhea requiring botox and radiotherapy."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210495"	"05611"	"00275896"	"00006"	"Isolated (sporadic)"	"11y"	"global developmental delay; fine motor delay; first words-2y; speech complete sentences; received speech/language therapy; language production and reception impaired; Mild intellectual disability (IQ 58); PDD-NOS; no ADHD/ADD; Flapping, hyperactive and claiming behaviour. Stereotypic movements; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; neonatal convulsions; abnormal gait; broad forehead, frontal bossing; widely spaced eyes; taurodontia, delayed changing into adult dentition; normal palate; neonatal feeding problems; cerebral visual impairment, nystagmus, strabism, hypermetropia; normal hearing; normal heart; normal kidneys; no hernias; joint hyperlaxity; drooling until 8y, high pain treshold, sleeping problems. V-shaped sacral crease"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210496"	"05611"	"00275897"	"00006"	"Isolated (sporadic)"	"17y"	"global developmental delay; walk-3y; fine motor delay; first words-4y; speech impaired intelligibility, high pitched voice; not known; intellectual disability (level unknown); mild autistic features; normal weight; normal height; macrocephaly; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; high arched and narrow palate; no neonatal issues; hypermetropia; normal hearing; normal heart;;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210497"	"05611"	"00275898"	"00006"	"Isolated (sporadic)"	"21y"	"global developmental delay; walk-2y; fine motor delay; first words-3-4y; not known; Mild intellectual disability (IQ 62); mild autistic features; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; no; prominent forehead; no widely spaced eyes; high arched and narrow palate; no neonatal issues; hypermetropia; normal hearing; normal heart;;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210498"	"05611"	"00275899"	"00006"	"Isolated (sporadic)"	"6y7m"	"global developmental delay; walk-1y10m; fine motor delay; first words-1y2m; speech sentences; received speech/language therapy; no formal diagnosis besides globally delayed, sentences are mostly intelligible; developmental delay; no autism/autistic features; no ADHD/ADD; No major behavior problems, sometimes struggles with emotions and gets upset/frustrated; normal weight; normal height; macrocephaly; MRI-brain cortical abnormalities suggestive for cortical dysgenesis, mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; no; broad forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no hernias; hyperlaxity in elbows, ankles, and knees;  One café au lait spot"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210499"	"05611"	"00275900"	"00006"	"Isolated (sporadic)"	"5y"	"global developmental delay; walk-3y6m; speech 10 words; moderate  intellectual disability; normal weight; normal height; macrocephaly; no wide CSF spaces; no epilepsy, no seizures; irregular broad based gait; prominent forehead; widely spaced eyes; no neonatal issues; normal heart;;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210500"	"05611"	"00275901"	"00006"	"Isolated (sporadic)"	"8y3m"	"global developmental delay; walk-1y6m; first words-4y; normal language development; moderate intellectual disability; no autism/autistic features; no ADHD/ADD; no particular behavioral problems; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; no; conical left upper incisor; no neonatal issues; hypermetropia; normal hearing; normal heart;;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210501"	"05611"	"00275902"	"00006"	"Isolated (sporadic)"	"18y"	"global developmental delay; walk-2y; fine motor delay; first words-2y; speech sentences; received speech/language therapy; Issues with speech enunciation, hypernasal voice, occasional stuttering. Impaired language on all subcompoinents of CELF4; Moderate intellectual disability; autistic features; no ADHD/ADD; Frequently puts objects in her mouth. Easily distractable and constantly needs to keep her hands busy and mind busy. Some hand-flapping and hopping on both feet,  when excited; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; Issues with balance, coordination; prominent forehead; widely spaced eyes; Crowded teeth - extensive dental history, instance of no permanent teeth under a decidious tooth; high arched palate with bifid uvula; caesarian section for fetal decelerations and oligohydramnios; myopia, astigmatism, strabism; normal hearing; normal heart; normal kidneys; no hernias; hyperlordosis of lumbar spine. Hypermobile flat feet; anteriorly placed anus, chronic and recurrent upper respiratory infections; increased subcutaneous adipose tissue deposition, copious saliva production evident from birth onwards, possible impairment of thirst; low hematocrit in childhood with normal hemoglobin level and MCV"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210502"	"05611"	"00275903"	"00006"	"Isolated (sporadic)"	"59y"	"global developmental delay; walk-2y; speech sentences; severe delay, yet verbal skills scored as relative strength; Mild intellectual disability; no autism/autistic features; no ADHD/ADD; normal weight; normal height; macrocephaly; MRI-brain encephalomalacia left temporal and parietal lobes; no wide CSF spaces; no epilepsy, no seizures; Parkinsonism since 1-2 years, resting/pill-rolling tremor, progressive weakness, swallowing difficulties, long standing equinovarus posturing of one foot; tall forehead; no widely spaced eyes; normal palate; normal vision; normal heart; normal kidneys; no male genital abnormalities; no hernias; equinovarus and high arched foot (only left); Recently volvulus with colonic ischemia. Ptosis."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210503"	"05611"	"00275904"	"00006"	"Isolated (sporadic)"	"8y6m"	"global developmental delay; walk-1y2m; fine motor delay; first words-2y8m; speech short sentences; received speech/language therapy; Receptive language better than speech production; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; always pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain thin corpus callosum; no hypotonia; no epilepsy, no seizures; mild unsteady gait; high forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210504"	"05611"	"00275905"	"00006"	"Isolated (sporadic)"	"14y4m"	"global developmental delay; walk-1y6m; fine motor delay; Speech delay; Mild intellectual disability; normal weight; normal height; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; not known; underbite; normal vision; aortic dilatation; undescended testes, orchidopexy performed; primary hypogonadism, malar hypoplasia. Also de novo mutation in CIC gene: NM_015125.3:c.1444G>T; p.(Glu482*)"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210505"	"05611"	"00275906"	"00006"	"Isolated (sporadic)"	"10y"	"global developmental delay; walk-5y; fine motor delay; first words-4y; speech 20 single words; received speech/language therapy; Speech and language delay, particularly expressive; severe intellectual disability; no autism/autistic features; no ADHD/ADD; no behavioral abnormalities, sociable; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; no hypotonia; no epilepsy, no seizures; no; broad forehead; widely spaced eyes; normal teeth; submucous cleft palate; neonatal stridor, jaundice, feeding problems; hypermetropia; ear tubes; normal heart; normal kidneys; no hernias; Pes planus and laxiity of large joints; V-shaped sacral crease"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210506"	"05611"	"00275907"	"00006"	"Isolated (sporadic)"	"12m"	"global developmental delay; no walking yet; fine motor delay; no first words yet; no speech; did not receive speech/language therapy; Has not started speaking yet, uses melodic vocalization; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; Very attentive, pleasant social behaviour. Since age 8m recurrent oculogyral crisis and episodes of sudden movement (thrusting upward of the thorax). Also  recurrent \"shuddering\" when emotional; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces, bilateral cerebral atrophy, bifrontal hygromas; wide CSF spaces; hypotonia; pathological EEG at age 8m, recent EEG unremarkable (without therapy); episodes of spontaneous movement (before truncal upthrust and oculogyral crisis, now emotional head \"shuddering\"; frontal bossing; widely spaced eyes; normal teeth; normal palate; neonatal respiratory distress after RSV infection, ICU for 2d; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; multiple skin creases on left posterior thigh"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210507"	"05611"	"00275908"	"00006"	"Isolated (sporadic)"	"21y"	"global developmental delay; walk-3y6m; fine motor delay; first words-1y3m-1y11m; speech repetitive and echolalic; received speech/language therapy; Moderate intellectual disability (IQ 43); no autism/autistic features; no ADHD/ADD; Some OCD-like behavior, some nervous mannerisms, routine oriented; normal weight; normal height; macrocephaly; no hypotonia; no epilepsy, no seizures; Somewhat wide-based, unsteady gait and feet slightly turned in while walking; normal forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, amblyopia; normal hearing; normal heart; normal kidneys; no hernias; Mild scoliosis, thoracic kyphosis, and somewhat exaggerated lumbar lordosis.  Mild cubitus valgus of upper extremities; Some dysfunctional uterine bleeding."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210508"	"05611"	"00275909"	"00006"	"Isolated (sporadic)"	""	"global developmental delay; walk-4y; fine motor delay; first words-7y; speech only a few words; received speech/language therapy; severe language disorder (expressive and receptive); Severe intellectual disability; no autism/autistic features; timid; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; high palate; neonatal respiratory distress, feeding problems; vision refractive error; ear tubes; normal heart; normal kidneys; no hernias; pectus chest deformity, joint hypermobility,; hypertrichosis"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210509"	"05611"	"00275910"	"00006"	"Isolated (sporadic)"	"9y6m"	"global developmental delay; walk-4y; fine motor delay; first words-4y; speech short sentences, hoarse voice; received speech/language therapy; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; delayed visual maturation; prominent forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, strabism, cerebral visual impairment; normal hearing; Atrial septal defect, Pulmonic valve stenosis; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210510"	"05611"	"00275911"	"00006"	"Isolated (sporadic)"	"9y6m"	"global developmental delay; walk-4y; fine motor delay; first words-5y; speech short sentences, hoarse voice; received speech/language therapy; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; delayed visual maturation; high forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, strabism, cerebral visual impairment; normal hearing; normal heart; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies; Sagittal craniosynostosis, constipation"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210511"	"05611"	"00275912"	"00006"	"Isolated (sporadic)"	"17y"	"global developmental delay; walk-2y6m; fine motor delay; first words-4y; speech sentences; received speech/language therapy; severe verbal apraxia; moderate oral apraxia; moderate receptive and expressive language disorder; mild stuttering disorder. Impaired intelligibility; Borderline intellectual disability (total IQ 72); no autism/autistic features; ADD; very sociable, hyperactive; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; tall and boxy forehead with dimpling; widely spaced eyes; normal teeth; narrow palate; small oral cavity; no neonatal issues; normal vision, wears glasses; ear tubes; normal heart; normal kidneys; Undescended testes; inguinal hernia; no skeletal anomalies, no joint anomalies; 3 cafe au lait spots. Thin and concave toenails. Thin fingernails. Lateral right-side hair whorl. Skin syndactyly of toes (2-3)."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210512"	"05611"	"00275913"	"00006"	"Isolated (sporadic)"	"2y8m"	"global developmental delay; walk-2y; fine motor delay; no first words yet; speech no words currently, vowel sounds/babbling; received speech/language therapy; Expressive language more impaired than expressive language, can follow simple instructions; developmental delay; no autism/autistic features; no ADHD/ADD; very happy, social personality; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; no; high forehead with frontal bossing; widely spaced eyes; enamel hypoplasia; normal palate; neonatal respiratory distress, had to be resuscitated, in NICU for 2d; vision slight refractive error,  exotropia; normal hearing; normal heart; normal kidneys; Undescended testes, hypospadias,\"hidden penis\"; inguinal hernia; joint hyperlaxity, wears ankle foot orthoses; abnormal bladder shape on MRI"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210513"	"05611"	"00275914"	"00006"	"Isolated (sporadic)"	"4y5m"	"global developmental delay; walk-2y6m; fine motor delay; speech sentences, often not accurately constructed; received speech/language therapy; delayed speech/language development, formal diagnosis not known; developmental delay; autistic features; active, difficulty to gain attention; normal weight; normal height; no macrocephaly, no microcephaly; no wide CSF spaces; no hypotonia; no epilepsy, no seizures; no; frontal bossing; normal teeth; normal palate; neonatal feeding problems; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; ingunial hernia; no skeletal anomalies, no joint anomalies;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210514"	"05611"	"00275915"	"00006"	"Isolated (sporadic)"	"10y"	"global developmental delay; walk-4y; fine motor delay; first words-4y; speech sentences; received speech/language therapy; speech difficulties; mild intellectual disability; no autism/autistic features; short attention span; very sociable, friendly; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; high forehead; widely spaced eyes; normal teeth; high palate; neonatal respiratory distress and feeding problems; exophoria; normal hearing; normal heart; normal kidneys; no hernias; joint hyperlaxity; livedo"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210515"	"05611"	"00275916"	"00006"	"Isolated (sporadic)"	"4y7m"	"global developmental delay; walk-4y; fine motor delay; no first words yet; speech single word vocalizations, signs and a communication device; received speech/language therapy; predominantly vocalizations and some word approximations. Uses communication device; Moderate intellectual disability; repetitive behaviors, hand flapping, head banging; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces, mildly prominent perivascular spaces in periatrial white matter; wide CSF spaces; hypotonia; no epilepsy, no seizures; poor balance,; high forehead and minimal frontal bossing; no widely spaced eyes; upper central diastema; normal palate; no neonatal issues; has glasses; normal hearing; normal heart; both testes descended, but left testes high in scrotal sac; hiatal hernia; no skeletal anomalies, no joint anomalies; minor pigment variation and eczema. history of reactive airway disease/asthma. Reflux and esophagitis."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210516"	"05611"	"00275917"	"00006"	"Isolated (sporadic)"	"3y6m"	"global developmental delay; walk-1y8m; fine motor delay; first words-13m; speech short sentences; received speech/language therapy; No specific speech  or language problems; Mild-Moderate intellectual disability; no autism/autistic features; short attention span; friendly, good social behaviour; normal weight; height >+2.5 SD; macrocephaly; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; arched palate; no neonatal issues; strabism; normal hearing; normal heart; normal kidneys; no male genital abnormalities; umbilical hernia (neonatal period); no skeletal anomalies, no joint anomalies; wide mamillary distance, increased sweating"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210517"	"05611"	"00275918"	"00006"	"Isolated (sporadic)"	"7y11m"	"global developmental delay; walk-3y; fine motor delay; first words-21m; speech short sentences; received speech/language therapy; Dysfluent, stammering, impaired intelligibility; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; sociable; weight <-2.5 SD; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; broad forehead; widely spaced eyes; normal teeth; normal palate; emergency caesarian section for fetal distress, pneumothorax, NICU for 1 week, feeding problems that required tube feeding; Impaired depth perception; normal hearing; Perimembranous VSD, right ventricular outflow tract muscle resection; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies; V shaped sacral crease"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210518"	"05611"	"00275919"	"00006"	"Isolated (sporadic)"	"12y"	"global developmental delay; walk-2y5m; fine motor delay; first words-13m; speech sentences; received speech/language therapy; at 29 mnts 4 word sentences, \'smart talking\'. Speech production more impaired than receptive language. Impaired intelligibility. High pitched voice; Mild intellectual disability (IQ 73); PDD-NOS; no ADHD/ADD; no behavioral issues; normal weight; normal height; macrocephaly; CT-scan widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; developmental coordination disorder; prominent forehead; widely spaced eyes; normal teeth; normal palate; short stay in NICU because of moaning. Feeding problems; hypermetropia; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; hypermobility, no dislocations; Extensive drooling."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210519"	"05611"	"00275920"	"00006"	"Isolated (sporadic)"	"6y"	"global developmental delay; walk-1y11m; fine motor delay; first words-15m; speech short sentences; received speech/language therapy; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; restless, friendly; normal weight; normal height; macrocephaly; MRI-brain cortical dysplasia; no wide CSF spaces; no hypotonia; 6m-spasm with hypsarythmie, not anymore; no; high forehead with frontal bossing; widely spaced eyes; small teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; pectus abnormality;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210520"	"05611"	"00275921"	"00006"	"Isolated (sporadic)"	"11y3m"	"global developmental delay; walk-1y7m; fine motor delay; first words-18m; speech sentences; received speech/language therapy; Dysarthria, nasal speech; Mild intellectual disability (IQ 64); PDD-NOS; ADHD; tics, temper tantrums. Echolalia. Hand flapping. Very happy and social personality. Very  restless, especially in stress; normal weight; normal height; macrocephaly; MRI-brain some small subcortical white matter lesions in frontal lobes.Wide perivascular spaces. Malrotation of the hippocampus with flying bird sign; no wide CSF spaces; hypotonia; no epilepsy, no seizures; Poor balance, suboptimal coordination. Walks with exorotation of legs and feet; prominent forehead, bossing, metopic ridge; widely spaced eyes; missing incisors, large front teeth; normal palate; no neonatal issues; vision doubt about depth perception, no other abnormalities; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; Pedes plani. Hyperextensible thumbs; extra right nipple.  High pain treshold."	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210521"	"05611"	"00275922"	"00006"	"Isolated (sporadic)"	"4y6m"	"global developmental delay; walk-2y11m; speech short sentences; Borderline intellectual disability (IQ 76);; MRI-brain focal patch or nodular HIS at bilateral periventricular white matter, especially occipital area; no wide CSF spaces; no epilepsy, no seizures; mildly unsteady gait only; prominent forehead; normal palate; normal hearing; normal heart; normal kidneys;"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210522"	"05611"	"00275923"	"00006"	"Isolated (sporadic)"	"25y"	"global developmental delay; walk-5y-6y; fine motor delay; speech only few words, mainly uses gestures and sounds; did not receive speech/language therapy; Speech production more impaired than receptive language; Severe intellectual disability; autistic features; no ADHD/ADD; Stereotypic movements, sometimes agression, problems with changes, automutilation; weight <-2.5 SD; normal height; no macrocephaly, no microcephaly; no hypotonia; no epilepsy, no seizures; no; normal forehead; widely spaced eyes; wide-spaced teeth, crowded teeth; neonatal feeding problems; strabism; normal hearing; normal heart; normal kidneys; no hernias; scoliosis, kyphosis. Laxity in finger joints; Constipation. Severe feeding problems requiring tube feeding until  age 7y. Recurrent anemia. Eczema"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210523"	"05611"	"00275924"	"00006"	"Isolated (sporadic)"	"1y3m"	"global developmental delay; no walking yet; fine motor delay; no first words yet; no speech yet; received speech/language therapy; Delayed speech development, oromotor problems; developmental delay; no autism/autistic features; no ADHD/ADD; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; myoclonal epilepsy of infancy since age 1y (drug-resistant); no; broad  forehead, frontal bossing; widely spaced eyes; normal teeth; normal palate; neonatal feeding problems; strabism; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; feeding problems, does not like solid food"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000210524"	"05611"	"00275925"	"00006"	"Isolated (sporadic)"	"17y"	"global developmental delay; walk-1y6m; first words-on time; speech sentences; received speech/language therapy; Receptive and expressive delay, impaired intelligibility; Mild intellectual disability (IQ 61); no autism/autistic features; no ADHD/ADD; Friendly, happy; normal weight; normal height; no macrocephaly, no microcephaly; no hypotonia; no epilepsy, no seizures; no; normal forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental delay"	""
"0000274079"	"05677"	"00380228"	"01164"	"Isolated (sporadic)"	"04y"	"Microcephaly, Delayed speech and language development, Neurological speech impairment, Language impairment, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000283591"	"05677"	"00390052"	"01164"	"Isolated (sporadic)"	"20y"	"Abnormality of the midface, Smooth philtrum, Short philtrum, Abnormal foot morphology, Pes planus, Scoliosis, Midface retrusion, Neurodevelopmental abnormality"	""	""	""	""	""	""	""	""	""	""	""
"0000308978"	"00112"	"00417496"	"00006"	"Familial, autosomal dominant"	""	"see paper"	""	""	""	""	""	""	""	""	"RP91"	"retinitis pigmentosa"	""
"0000324893"	"05677"	"00434643"	"01164"	"Unknown"	"03y"	"Delayed speech and language development, Expressive language delay, Tall stature, Macrocephaly"	""	""	""	""	""	""	""	""	""	""	""
"0000346472"	"05677"	"00458022"	"04775"	"Unknown"	"14y"	"intellectual disability (HP:0001249), epilepsy (HP:0001250), ataxia (HP:0001251), unstable gait  (HP:0002317), abnormal EEG (HP:0002353), Situs Inversus Totalis (HP:0030853）"	"11y"	"14y"	"intellectual disability (HP:0001249), epilepsy（HP:0001250), ataxia (HP:0001251）"	""	""	""	""	""	"SNIBCPS"	"probable psychogenic disease"	""
"0000350684"	"05611"	"00464699"	"03544"	"Isolated (sporadic)"	""	"(HP:0002342, HP:0004322, HP:0007018, HP:0000750, HP:0000271, HP:0000823"	""	""	""	""	""	""	""	""	"SNIBCPS"	"complex neurodevelopmental disorder"	""
"0000351421"	"05611"	"00466037"	"03544"	"Isolated (sporadic)"	""	"HP:0000271, HP:0000505, HP:0000736, HP:0007018, HP:0012758, HP:0001629, HP:0001263, HP:0001249, HP:0000750, HP:0001780, HP:0002981, HP:0001430, HP:0001437, HP:0007340, HP:0008962, HP:0008110, HP:0100498, HP:0030198"	""	""	""	""	""	""	""	""	"SNIBCPS"	"complex NDD and MCA"	""
"0000351793"	"05611"	"00466430"	"03544"	"Isolated (sporadic)"	""	"(HP:0000750, HP:0001263, HP:0000717, HP:0000729"	""	""	""	""	""	""	""	""	"SNIBCPS"	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 68
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000275433"	"00274276"	"1"	"00679"	"00679"	"2019-12-27 17:12:42"	""	""	"SEQ-NG"	"DNA"	""	""
"0000275434"	"00274277"	"1"	"00679"	"00679"	"2019-12-27 17:20:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000276993"	"00275839"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000276994"	"00275840"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000276995"	"00275841"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000276996"	"00275842"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000276997"	"00275843"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000276998"	"00275844"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000276999"	"00275845"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277000"	"00275846"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277001"	"00275847"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277002"	"00275848"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277003"	"00275849"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277004"	"00275850"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277005"	"00275851"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277006"	"00275852"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277007"	"00275853"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277008"	"00275854"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277009"	"00275855"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277010"	"00275856"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277011"	"00275857"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277012"	"00275858"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277013"	"00275859"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277014"	"00275860"	"1"	"00679"	"00006"	"2020-01-19 12:31:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000277015"	"00275861"	"1"	"00006"	"00006"	"2020-01-19 13:09:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000277044"	"00275891"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277045"	"00275892"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277046"	"00275893"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277047"	"00275894"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277048"	"00275895"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277049"	"00275896"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277050"	"00275897"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277051"	"00275898"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277052"	"00275899"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277053"	"00275900"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277054"	"00275901"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277055"	"00275902"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277056"	"00275903"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277057"	"00275904"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277058"	"00275905"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277059"	"00275906"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277060"	"00275907"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277061"	"00275908"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277062"	"00275909"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277063"	"00275910"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277064"	"00275911"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277065"	"00275912"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277066"	"00275913"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277067"	"00275914"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277068"	"00275915"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277069"	"00275916"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277070"	"00275917"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277071"	"00275918"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277072"	"00275919"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277073"	"00275920"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277074"	"00275921"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277075"	"00275922"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277076"	"00275923"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277077"	"00275924"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000277078"	"00275925"	"1"	"00006"	"00006"	"2020-01-20 21:55:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000381442"	"00380228"	"1"	"01164"	"01164"	"2021-08-13 12:01:18"	""	""	"SEQ-NG-H"	"DNA"	""	""
"0000391293"	"00390052"	"1"	"01164"	"01164"	"2021-11-09 15:47:55"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000418789"	"00417496"	"1"	"00006"	"00006"	"2022-09-18 14:47:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436114"	"00434643"	"1"	"01164"	"01164"	"2023-04-05 11:10:44"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000459655"	"00458022"	"1"	"04775"	"04775"	"2024-11-26 03:49:24"	""	""	"arrayCNV"	"DNA"	"blood"	"WES"
"0000466346"	"00464699"	"1"	"03544"	"03544"	"2025-04-10 14:25:35"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000467688"	"00466037"	"1"	"03544"	"03544"	"2025-07-12 09:55:33"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000468093"	"00466430"	"1"	"03544"	"03544"	"2025-09-04 13:41:30"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 69
"{{screeningid}}"	"{{geneid}}"
"0000276993"	"CDH3"
"0000276994"	"CDH3"
"0000276995"	"CDH3"
"0000276996"	"CDH3"
"0000276997"	"CDH3"
"0000276998"	"CDH3"
"0000276999"	"CDH3"
"0000277000"	"CDH3"
"0000277001"	"CDH3"
"0000277002"	"CDH3"
"0000277003"	"CDH3"
"0000277004"	"CDH3"
"0000277005"	"CDH3"
"0000277006"	"CDH3"
"0000277007"	"CDH3"
"0000277008"	"CDH3"
"0000277009"	"CDH3"
"0000277010"	"CDH3"
"0000277011"	"CDH3"
"0000277012"	"CDH3"
"0000277013"	"CDH3"
"0000277014"	"CDH3"
"0000277044"	"CHD3"
"0000277045"	"CHD3"
"0000277046"	"CHD3"
"0000277047"	"CHD3"
"0000277048"	"CHD3"
"0000277049"	"CHD3"
"0000277050"	"CHD3"
"0000277051"	"CHD3"
"0000277052"	"CHD3"
"0000277053"	"CHD3"
"0000277054"	"CHD3"
"0000277055"	"CHD3"
"0000277056"	"CHD3"
"0000277057"	"CHD3"
"0000277058"	"CHD3"
"0000277059"	"CHD3"
"0000277060"	"CHD3"
"0000277061"	"CHD3"
"0000277062"	"CHD3"
"0000277063"	"CHD3"
"0000277064"	"CHD3"
"0000277065"	"CHD3"
"0000277066"	"CHD3"
"0000277067"	"CHD3"
"0000277068"	"CHD3"
"0000277069"	"CHD3"
"0000277070"	"CHD3"
"0000277071"	"CHD3"
"0000277072"	"CHD3"
"0000277073"	"CHD3"
"0000277074"	"CHD3"
"0000277075"	"CHD3"
"0000277076"	"CHD3"
"0000277077"	"CHD3"
"0000277078"	"CHD3"
"0000381442"	"CHD3"
"0000391293"	"CHD3"
"0000436114"	"CHD3"
"0000459655"	"APOA1BP"
"0000459655"	"CDK5RAP2"
"0000459655"	"CHD3"
"0000459655"	"HS6ST2"
"0000459655"	"KPNA7"
"0000459655"	"PHKB"
"0000459655"	"PPFIBP1"
"0000459655"	"RELN"
"0000459655"	"RYR2"


## 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 = 166
"{{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}}"
"0000270143"	"0"	"70"	"17"	"7806654"	"7806654"	"subst"	"0"	"02326"	"CHD3_000002"	"g.7806654G>C"	""	""	""	"CHD3(NM_001005271.3):c.3737G>C (p.R1246P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7903336G>C"	""	"likely pathogenic"	""
"0000273445"	"0"	"30"	"17"	"7810324"	"7810324"	"subst"	"0.000130005"	"01943"	"CHD3_000003"	"g.7810324C>G"	""	""	""	"CHD3(NM_001005271.2):c.4818C>G (p.T1606=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7907006C>G"	""	"likely benign"	""
"0000273446"	"0"	"50"	"17"	"7811262"	"7811262"	"subst"	"4.06289E-6"	"01943"	"CHD3_000004"	"g.7811262C>T"	""	""	""	"CHD3(NM_001005271.2):c.5254C>T (p.R1752W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7907944C>T"	""	"VUS"	""
"0000325172"	"0"	"30"	"17"	"7788358"	"7788366"	"del"	"0"	"01804"	"CHD3_000001"	"g.7788358_7788366del"	""	""	""	"CHD3(NM_001005271.3):c.234_242del (p.(Pro80_Pro82del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7885040_7885048del"	""	"likely benign"	""
"0000339090"	"0"	"50"	"17"	"7803953"	"7803953"	"subst"	"0"	"02327"	"CHD3_000005"	"g.7803953G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7900635G>A"	""	"VUS"	""
"0000342169"	"0"	"70"	"17"	"7813797"	"7813797"	"subst"	"0"	"02327"	"CHD3_000007"	"g.7813797G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7910479G>T"	""	"likely pathogenic"	""
"0000563387"	"0"	"30"	"17"	"7788287"	"7788287"	"subst"	"0"	"01943"	"CHD3_000008"	"g.7788287G>C"	""	""	""	"CHD3(NM_001005271.2):c.163G>C (p.G55R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7884969G>C"	""	"likely benign"	""
"0000563391"	"0"	"10"	"17"	"7788364"	"7788366"	"dup"	"0"	"01943"	"CHD3_000011"	"g.7788364_7788366dup"	""	""	""	"CHD3(NM_001005271.2):c.240_242dupGCC (p.P82dup), CHD3(NM_001005271.3):c.240_242dupGCC (p.P82dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7885046_7885048dup"	""	"benign"	""
"0000563394"	"0"	"30"	"17"	"7788375"	"7788375"	"subst"	"0"	"01943"	"CHD3_000014"	"g.7788375C>T"	""	""	""	"CHD3(NM_001005271.2):c.251C>T (p.P84L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7885057C>T"	""	"likely benign"	""
"0000563395"	"0"	"50"	"17"	"7798338"	"7798338"	"subst"	"0"	"02329"	"CHD3_000015"	"g.7798338A>T"	""	""	""	"CHD3(NM_001005271.3):c.1550A>T (p.Y517F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7895020A>T"	""	"VUS"	""
"0000563405"	"0"	"30"	"17"	"7802370"	"7802370"	"subst"	"4.06085E-6"	"01943"	"CHD3_000016"	"g.7802370C>T"	""	""	""	"CHD3(NM_001005271.2):c.2370C>T (p.A790=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7899052C>T"	""	"likely benign"	""
"0000563412"	"0"	"90"	"17"	"7803968"	"7803968"	"subst"	"0"	"02327"	"CHD3_000018"	"g.7803968G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7900650G>A"	""	"pathogenic"	""
"0000563414"	"0"	"50"	"17"	"7804196"	"7804196"	"subst"	"0"	"02325"	"CHD3_000019"	"g.7804196G>C"	""	""	""	"CHD3(NM_001005271.3):c.3182G>C (p.R1061P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7900878G>C"	""	"VUS"	""
"0000563415"	"0"	"70"	"17"	"7804647"	"7804647"	"subst"	"0"	"02327"	"CHD3_000020"	"g.7804647T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7901329T>C"	""	"likely pathogenic"	""
"0000563426"	"0"	"50"	"17"	"7806357"	"7806357"	"subst"	"0"	"02327"	"CHD3_000021"	"g.7806357G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7903039G>A"	""	"VUS"	""
"0000563428"	"0"	"70"	"17"	"7806372"	"7806372"	"subst"	"0"	"02329"	"CHD3_000022"	"g.7806372A>T"	""	""	""	"CHD3(NM_001005271.3):c.3665A>T (p.D1222V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7903054A>T"	""	"likely pathogenic"	""
"0000563486"	"0"	"50"	"17"	"7807292"	"7807292"	"subst"	"0"	"02327"	"CHD3_000023"	"g.7807292G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7903974G>A"	""	"VUS"	""
"0000563559"	"0"	"30"	"17"	"7810256"	"7810256"	"subst"	"4.06207E-6"	"02327"	"CHD3_000024"	"g.7810256T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7906938T>G"	""	"likely benign"	""
"0000563560"	"0"	"50"	"17"	"7811278"	"7811278"	"subst"	"0"	"02329"	"CHD3_000025"	"g.7811278G>T"	""	""	""	"CHD3(NM_001005271.3):c.5270G>T (p.R1757L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7907960G>T"	""	"VUS"	""
"0000616870"	"0"	"50"	"17"	"7788376"	"7788384"	"del"	"0"	"01804"	"CHD3_000026"	"g.7788376_7788384del"	""	""	""	"CHD3(NM_001005271.2):c.249_257del (p.(Pro90_Pro92del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7885058_7885066del"	""	"VUS"	""
"0000616872"	"0"	"50"	"17"	"7798395"	"7798395"	"subst"	"0"	"02325"	"CHD3_000028"	"g.7798395C>T"	""	""	""	"CHD3(NM_001005271.3):c.1607C>T (p.S536F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7895077C>T"	""	"VUS"	""
"0000616873"	"0"	"30"	"17"	"7798471"	"7798471"	"subst"	"3.26536E-5"	"01943"	"CHD3_000029"	"g.7798471G>A"	""	""	""	"CHD3(NM_001005271.2):c.1680+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7895153G>A"	""	"likely benign"	""
"0000623779"	"0"	"30"	"17"	"7810708"	"7810708"	"subst"	"7.46863E-5"	"02325"	"CHD3_000030"	"g.7810708G>A"	""	""	""	"CHD3(NM_001005271.3):c.5003G>A (p.R1668Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7907390G>A"	""	"likely benign"	""
"0000629438"	"0"	"70"	"17"	"7798859"	"7798859"	"subst"	"0"	"00679"	"CHD3_000031"	"g.7798859A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.7895541A>G"	""	"pathogenic (dominant)"	""
"0000629439"	"0"	"90"	"17"	"7803326"	"7803326"	"subst"	"0"	"00679"	"CHD3_000032"	"g.7803326A>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900008A>G"	""	"pathogenic (dominant)"	""
"0000631741"	"0"	"90"	"17"	"7798859"	"7798859"	"subst"	"0"	"00679"	"CHD3_000031"	"g.7798859A>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7895541A>G"	""	"pathogenic (dominant)"	""
"0000631742"	"0"	"90"	"17"	"7803674"	"7803674"	"subst"	"0"	"00679"	"CHD3_000036"	"g.7803674A>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900356A>T"	""	"pathogenic (dominant)"	""
"0000631743"	"0"	"90"	"17"	"7803902"	"7803902"	"subst"	"0"	"00679"	"CHD3_000037"	"g.7803902T>A"	""	""	""	""	"de novo mosaic"	"De novo"	""	""	"0"	""	""	"g.7900584T>A"	""	"pathogenic (dominant)"	""
"0000631744"	"0"	"90"	"17"	"7803913"	"7803913"	"subst"	"0"	"00679"	"CHD3_000017"	"g.7803913T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900595T>C"	""	"pathogenic (dominant)"	""
"0000631745"	"0"	"90"	"17"	"7803967"	"7803967"	"subst"	"0"	"00679"	"CHD3_000038"	"g.7803967C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900649C>T"	""	"pathogenic (dominant)"	""
"0000631746"	"0"	"90"	"17"	"7803967"	"7803967"	"subst"	"0"	"00679"	"CHD3_000038"	"g.7803967C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900649C>T"	""	"pathogenic (dominant)"	""
"0000631747"	"0"	"90"	"17"	"7803967"	"7803967"	"subst"	"0"	"00679"	"CHD3_000038"	"g.7803967C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900649C>T"	""	"pathogenic (dominant)"	""
"0000631748"	"0"	"90"	"17"	"7803968"	"7803968"	"subst"	"0"	"00679"	"CHD3_000039"	"g.7803968G>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900650G>C"	""	"pathogenic (dominant)"	""
"0000631749"	"0"	"90"	"17"	"7803976"	"7803976"	"subst"	"0"	"00679"	"CHD3_000040"	"g.7803976A>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900658A>G"	""	"pathogenic (dominant)"	""
"0000631750"	"0"	"90"	"17"	"7804680"	"7804680"	"subst"	"0"	"00679"	"CHD3_000041"	"g.7804680T>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7901362T>A"	""	"pathogenic (dominant)"	""
"0000631751"	"0"	"90"	"17"	"7806609"	"7806609"	"subst"	"0"	"00679"	"CHD3_000042"	"g.7806609G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903291G>A"	""	"pathogenic (dominant)"	""
"0000631752"	"0"	"90"	"17"	"7806697"	"7806708"	"del"	"0"	"00679"	"CHD3_000043"	"g.7806697_7806708del"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903379_7903390del"	""	"pathogenic (dominant)"	""
"0000631753"	"0"	"90"	"17"	"7806701"	"7806703"	"del"	"0"	"00679"	"CHD3_000044"	"g.7806701_7806703del"	""	""	""	"3607_3609delATG"	""	"De novo"	""	""	"0"	""	""	"g.7903383_7903385del"	""	"pathogenic (dominant)"	""
"0000631754"	"0"	"90"	"17"	"7807199"	"7807199"	"subst"	"4.06088E-5"	"00679"	"CHD3_000045"	"g.7807199C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903881C>T"	""	"pathogenic (dominant)"	""
"0000631755"	"0"	"90"	"17"	"7809192"	"7809192"	"subst"	"0"	"00679"	"CHD3_000047"	"g.7809192C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7905874C>T"	""	"pathogenic (dominant)"	""
"0000631756"	"0"	"90"	"17"	"7814273"	"7814273"	"subst"	"0"	"00679"	"CHD3_000049"	"g.7814273G>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7910955G>T"	""	"pathogenic (dominant)"	""
"0000631757"	"21"	"90"	"17"	"7809229"	"7809229"	"subst"	"0"	"00679"	"CHD3_000048"	"g.7809229G>A"	""	""	""	""	"inherited from affected mother"	"De novo"	""	""	"0"	""	""	"g.7905911G>A"	""	"pathogenic (dominant)"	""
"0000631758"	"0"	"90"	"17"	"7798349"	"7798349"	"del"	"0"	"00679"	"CHD3_000034"	"g.7798349del"	""	""	""	""	"parents unavailable for testing"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7895031del"	""	"pathogenic (dominant)"	""
"0000631759"	"0"	"90"	"17"	"7798771"	"7798771"	"dup"	"0"	"00679"	"CHD3_000035"	"g.7798771dup"	""	""	""	"1618dupC"	"parents unavailable for testing"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7895453dup"	""	"pathogenic (dominant)"	""
"0000631760"	"0"	"90"	"17"	"7808415"	"7808423"	"del"	"0"	"00679"	"CHD3_000046"	"g.7808415_7808423del"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.7905097_7905105del"	""	"pathogenic (dominant)"	""
"0000631761"	"0"	"90"	"17"	"7394419"	"7871060"	"del"	"0"	"00679"	"CHD3_000033"	"g.(?_7394419)_(7871060_?)del"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000631762"	"10"	"90"	"17"	"7398909"	"7962160"	"dup"	"0"	"00679"	"CHD3_000033"	"g.(?_7398909)_(7962160_?)dup"	""	""	""	""	"presumed inherited from affected father"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000631775"	"0"	"90"	"17"	"7798334"	"7798334"	"subst"	"0"	"00006"	"CHD3_000050"	"g.7798334G>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7895016G>T"	""	"pathogenic (dominant)"	""
"0000631776"	"0"	"90"	"17"	"7803326"	"7803326"	"subst"	"0"	"00006"	"CHD3_000032"	"g.7803326A>G"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900008A>G"	""	"pathogenic (dominant)"	""
"0000631777"	"0"	"90"	"17"	"7803670"	"7803670"	"subst"	"0"	"00006"	"CHD3_000051"	"g.7803670G>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900352G>T"	""	"pathogenic (dominant)"	""
"0000631778"	"0"	"90"	"17"	"7803686"	"7803686"	"subst"	"0"	"00006"	"CHD3_000052"	"g.7803686G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900368G>A"	""	"pathogenic (dominant)"	""
"0000631779"	"0"	"90"	"17"	"7803953"	"7803953"	"subst"	"0"	"00006"	"CHD3_000005"	"g.7803953G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900635G>A"	""	"pathogenic (dominant)"	""
"0000631780"	"0"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"00006"	"CHD3_000053"	"g.7804024C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900706C>T"	""	"pathogenic (dominant)"	""
"0000631781"	"0"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"00006"	"CHD3_000053"	"g.7804024C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900706C>T"	""	"pathogenic (dominant)"	""
"0000631782"	"21"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"00006"	"CHD3_000053"	"g.7804024C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	"mother mosaic"	"Germline"	""	""	"0"	""	""	"g.7900706C>T"	""	"pathogenic (dominant)"	""
"0000631783"	"21"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"00006"	"CHD3_000053"	"g.7804024C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	"mother mosaic"	"Germline"	""	""	"0"	""	""	"g.7900706C>T"	""	"pathogenic (dominant)"	""
"0000631784"	"0"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"00006"	"CHD3_000053"	"g.7804024C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900706C>T"	""	"pathogenic (dominant)"	""
"0000631785"	"0"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"00006"	"CHD3_000053"	"g.7804024C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900706C>T"	""	"pathogenic (dominant)"	""
"0000631786"	"0"	"90"	"17"	"7804025"	"7804025"	"subst"	"0"	"00006"	"CHD3_000054"	"g.7804025G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900707G>A"	""	"pathogenic (dominant)"	""
"0000631787"	"0"	"90"	"17"	"7804025"	"7804025"	"subst"	"0"	"00006"	"CHD3_000054"	"g.7804025G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7900707G>A"	""	"pathogenic (dominant)"	""
"0000631788"	"0"	"90"	"17"	"7806000"	"7806002"	"del"	"0"	"00006"	"CHD3_000055"	"g.7806000_7806002del"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7902682_7902684del"	""	"pathogenic (dominant)"	""
"0000631789"	"0"	"90"	"17"	"7806032"	"7806033"	"delins"	"0"	"00006"	"CHD3_000056"	"g.7806032_7806033delinsTC"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7902714_7902715delinsTC"	""	"pathogenic (dominant)"	""
"0000631790"	"0"	"90"	"17"	"7806037"	"7806037"	"subst"	"0"	"00006"	"CHD3_000057"	"g.7806037G>C"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7902719G>C"	""	"pathogenic (dominant)"	""
"0000631791"	"0"	"90"	"17"	"7806291"	"7806291"	"subst"	"0"	"00006"	"CHD3_000058"	"g.7806291C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7902973C>T"	""	"pathogenic (dominant)"	""
"0000631792"	"0"	"90"	"17"	"7806356"	"7806356"	"subst"	"0"	"00006"	"CHD3_000059"	"g.7806356T>C"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903038T>C"	""	"pathogenic (dominant)"	""
"0000631793"	"0"	"90"	"17"	"7806361"	"7806361"	"subst"	"0"	"00006"	"CHD3_000060"	"g.7806361C>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903043C>A"	""	"pathogenic (dominant)"	""
"0000631794"	"0"	"90"	"17"	"7806366"	"7806366"	"subst"	"0"	"00006"	"CHD3_000061"	"g.7806366A>G"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903048A>G"	""	"pathogenic (dominant)"	""
"0000631795"	"0"	"90"	"17"	"7806366"	"7806366"	"subst"	"0"	"00006"	"CHD3_000061"	"g.7806366A>G"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903048A>G"	""	"pathogenic (dominant)"	""
"0000631796"	"0"	"90"	"17"	"7806599"	"7806599"	"subst"	"0"	"00006"	"CHD3_000062"	"g.7806599C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903281C>T"	""	"pathogenic (dominant)"	""
"0000631797"	"0"	"90"	"17"	"7806599"	"7806599"	"subst"	"0"	"00006"	"CHD3_000062"	"g.7806599C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903281C>T"	""	"pathogenic (dominant)"	""
"0000631798"	"0"	"90"	"17"	"7806599"	"7806599"	"subst"	"0"	"00006"	"CHD3_000062"	"g.7806599C>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903281C>T"	""	"pathogenic (dominant)"	""
"0000631799"	"0"	"90"	"17"	"7806606"	"7806606"	"subst"	"0"	"00006"	"CHD3_000063"	"g.7806606A>G"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903288A>G"	""	"pathogenic (dominant)"	""
"0000631800"	"0"	"90"	"17"	"7806609"	"7806609"	"subst"	"0"	"00006"	"CHD3_000042"	"g.7806609G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903291G>A"	""	"pathogenic (dominant)"	""
"0000631801"	"0"	"90"	"17"	"7806609"	"7806609"	"subst"	"0"	"00006"	"CHD3_000042"	"g.7806609G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903291G>A"	""	"pathogenic (dominant)"	""
"0000631802"	"0"	"90"	"17"	"7806609"	"7806609"	"subst"	"0"	"00006"	"CHD3_000042"	"g.7806609G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903291G>A"	""	"pathogenic (dominant)"	""
"0000631803"	"0"	"90"	"17"	"7806654"	"7806654"	"subst"	"0"	"00006"	"CHD3_000002"	"g.7806654G>C"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903336G>C"	""	"pathogenic (dominant)"	""
"0000631804"	"0"	"90"	"17"	"7806654"	"7806654"	"subst"	"0"	"00006"	"CHD3_000002"	"g.7806654G>C"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903336G>C"	""	"pathogenic (dominant)"	""
"0000631805"	"0"	"90"	"17"	"7806801"	"7806801"	"subst"	"0"	"00006"	"CHD3_000064"	"g.7806801T>C"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7903483T>C"	""	"pathogenic (dominant)"	""
"0000631806"	"0"	"90"	"17"	"7807890"	"7807890"	"subst"	"0"	"00006"	"CHD3_000065"	"g.7807890G>A"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7904572G>A"	""	"pathogenic (dominant)"	""
"0000631807"	"0"	"90"	"17"	"7808416"	"7808416"	"subst"	"0"	"00006"	"CHD3_000066"	"g.7808416A>G"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7905098A>G"	""	"pathogenic (dominant)"	""
"0000631808"	"0"	"90"	"17"	"7813797"	"7813797"	"subst"	"0"	"00006"	"CHD3_000007"	"g.7813797G>T"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7910479G>T"	""	"pathogenic (dominant)"	""
"0000631809"	"0"	"90"	"17"	"7814212"	"7814213"	"ins"	"0"	"00006"	"CHD3_000067"	"g.7814212_7814213insGAAC"	""	"{PMID:Snijders Blok 2018:30397230}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7910894_7910895insGAAC"	""	"pathogenic (dominant)"	""
"0000631967"	"0"	"90"	"17"	"7806599"	"7806599"	"subst"	"0"	"00006"	"CHD3_000062"	"g.7806599C>T"	""	"{PMID:Eising 2018:29463886}"	""	"NM_001005271.2:c.3682C>T"	""	"De novo"	""	""	"0"	""	""	"g.7903281C>T"	""	"pathogenic"	""
"0000658283"	"0"	"90"	"17"	"7804024"	"7804024"	"subst"	"0"	"02327"	"CHD3_000053"	"g.7804024C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7900706C>T"	""	"pathogenic"	""
"0000681052"	"0"	"50"	"17"	"7800581"	"7800581"	"subst"	"0"	"01943"	"CHD3_000068"	"g.7800581T>C"	""	""	""	"CHD3(NM_001005271.2):c.2065T>C (p.W689R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000681053"	"0"	"30"	"17"	"7802658"	"7802658"	"subst"	"0.000743642"	"02325"	"CHD3_000069"	"g.7802658C>T"	""	""	""	"CHD3(NM_001005271.3):c.2521-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681055"	"0"	"50"	"17"	"7804658"	"7804658"	"subst"	"0"	"02327"	"CHD3_000070"	"g.7804658A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000681056"	"0"	"50"	"17"	"7806293"	"7806293"	"subst"	"4.06154E-6"	"01943"	"CHD3_000071"	"g.7806293C>T"	""	""	""	"CHD3(NM_001005271.2):c.3586C>T (p.R1196*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000681060"	"0"	"30"	"17"	"7806642"	"7806642"	"subst"	"0"	"02327"	"CHD3_000072"	"g.7806642G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692501"	"0"	"30"	"17"	"7796891"	"7796891"	"subst"	"0.000196096"	"02325"	"CHD3_000073"	"g.7796891G>A"	""	""	""	"CHD3(NM_001005271.3):c.970+4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692504"	"0"	"30"	"17"	"7809937"	"7809937"	"subst"	"8.13068E-6"	"02325"	"CHD3_000074"	"g.7809937C>T"	""	""	""	"CHD3(NM_001005271.3):c.4602C>T (p.A1534=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726733"	"0"	"10"	"17"	"7788364"	"7788366"	"dup"	"0"	"02329"	"CHD3_000011"	"g.7788364_7788366dup"	""	""	""	"CHD3(NM_001005271.2):c.240_242dupGCC (p.P82dup), CHD3(NM_001005271.3):c.240_242dupGCC (p.P82dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000726734"	"0"	"50"	"17"	"7801846"	"7801846"	"subst"	"0"	"02327"	"CHD3_000075"	"g.7801846C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726735"	"0"	"50"	"17"	"7802739"	"7802739"	"subst"	"0"	"02329"	"CHD3_000076"	"g.7802739G>T"	""	""	""	"CHD3(NM_001005271.3):c.2599G>T (p.A867S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726736"	"0"	"70"	"17"	"7803913"	"7803913"	"subst"	"0"	"02329"	"CHD3_000017"	"g.7803913T>C"	""	""	""	"CHD3(NM_001005271.3):c.3019T>C (p.S1007P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000726746"	"0"	"50"	"17"	"7811230"	"7811230"	"subst"	"8.14113E-6"	"02329"	"CHD3_000077"	"g.7811230G>T"	""	""	""	"CHD3(NM_001005271.3):c.5222G>T (p.R1741L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726747"	"0"	"50"	"17"	"7812029"	"7812029"	"subst"	"0"	"02327"	"CHD3_000078"	"g.7812029G>A"	""	""	""	"CHD3(NM_001005271.3):c.5453G>A (p.R1818Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000794902"	"0"	"50"	"17"	"7807869"	"7807869"	"subst"	"0"	"01164"	"CHD3_000079"	"g.7807869G>A"	""	""	""	""	"ACMG: PM1, PM2_SUP, PP2, PP3"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000808300"	"0"	"50"	"17"	"7796816"	"7796816"	"subst"	"0"	"02325"	"CHD3_000080"	"g.7796816C>T"	""	""	""	"CHD3(NM_001005271.3):c.899C>T (p.A300V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808303"	"0"	"70"	"17"	"7805994"	"7805994"	"subst"	"0"	"02327"	"CHD3_000081"	"g.7805994G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000808307"	"0"	"50"	"17"	"7807292"	"7807292"	"subst"	"0"	"02327"	"CHD3_000082"	"g.7807292G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808314"	"0"	"10"	"17"	"7810708"	"7810708"	"subst"	"7.46863E-5"	"02327"	"CHD3_000030"	"g.7810708G>A"	""	""	""	"CHD3(NM_001005271.3):c.5003G>A (p.R1668Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000808315"	"0"	"50"	"17"	"7811005"	"7811005"	"subst"	"0"	"02325"	"CHD3_000083"	"g.7811005G>A"	""	""	""	"CHD3(NM_001005271.3):c.5188G>A (p.D1730N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808316"	"0"	"50"	"17"	"7814186"	"7814186"	"subst"	"0"	"02325"	"CHD3_000084"	"g.7814186G>T"	""	""	""	"CHD3(NM_001005271.3):c.5953G>T (p.A1985S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000821032"	"0"	"50"	"17"	"7807212"	"7807212"	"subst"	"0"	"01164"	"CHD3_000085"	"g.7807212G>A"	""	""	""	""	"ACMG: PM1, PM2_SUP, PP2, PP3"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000855142"	"0"	"90"	"17"	"7806599"	"7806599"	"subst"	"0"	"02327"	"CHD3_000062"	"g.7806599C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000878655"	"1"	"50"	"17"	"7804612"	"7804612"	"subst"	"0"	"00006"	"CHD3_000086"	"g.7804612G>C"	""	"{PMID:Olivier 2021:32817297}"	""	"3348G>C (Lys1116Asn)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000894323"	"0"	"50"	"17"	"7792399"	"7792399"	"subst"	"0"	"02329"	"CHD3_000087"	"g.7792399T>A"	""	""	""	"CHD3(NM_001005273.2):c.81T>A (p.C27*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894324"	"0"	"50"	"17"	"7793006"	"7793006"	"subst"	"0"	"02325"	"CHD3_000088"	"g.7793006C>T"	""	""	""	"CHD3(NM_001005271.3):c.302C>T (p.P101L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894325"	"0"	"50"	"17"	"7798266"	"7798266"	"subst"	"0"	"02325"	"CHD3_000089"	"g.7798266A>G"	""	""	""	"CHD3(NM_001005271.3):c.1478A>G (p.E493G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894326"	"0"	"30"	"17"	"7802504"	"7802504"	"subst"	"8.54158E-5"	"02325"	"CHD3_000090"	"g.7802504A>G"	""	""	""	"CHD3(NM_001005271.3):c.2504A>G (p.Y835C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894327"	"0"	"70"	"17"	"7806800"	"7806808"	"del"	"0"	"02325"	"CHD3_000091"	"g.7806800_7806808del"	""	""	""	"CHD3(NM_001005271.3):c.3883_3891delCTATTCAAG (p.L1295_K1297del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000894328"	"0"	"50"	"17"	"7807250"	"7807250"	"subst"	"4.06062E-6"	"02329"	"CHD3_000092"	"g.7807250A>G"	""	""	""	"CHD3(NM_001005271.3):c.4012A>G (p.M1338V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894331"	"0"	"50"	"17"	"7808474"	"7808474"	"subst"	"4.06062E-6"	"02329"	"CHD3_000093"	"g.7808474C>T"	""	""	""	"CHD3(NM_001005271.3):c.4306C>T (p.R1436C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894333"	"0"	"30"	"17"	"7813890"	"7813890"	"subst"	"0.000316747"	"02325"	"CHD3_000094"	"g.7813890C>T"	""	""	""	"CHD3(NM_001005271.3):c.5912C>T (p.T1971M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914988"	"0"	"70"	"17"	"7806600"	"7806600"	"subst"	"0"	"02326"	"CHD3_000095"	"g.7806600G>A"	""	""	""	"CHD3(NM_001005271.3):c.3683G>A (p.R1228Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000922455"	"0"	"50"	"17"	"7800441"	"7800441"	"subst"	"0"	"01164"	"CHD3_000096"	"g.7800441G>A"	""	""	""	""	"ACMG: PS2_MOD, PM2_SUP, PP2; confirmed de novo in trio exome"	"De novo"	"-"	""	"0"	""	""	""	""	"VUS (!)"	"ACMG"
"0000926654"	"0"	"70"	"17"	"7803696"	"7803696"	"subst"	"0"	"02327"	"CHD3_000097"	"g.7803696A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000926655"	"0"	"70"	"17"	"7804252"	"7804252"	"subst"	"0"	"02329"	"CHD3_000098"	"g.7804252A>T"	""	""	""	"CHD3(NM_001005273.3):c.3061A>T (p.I1021F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000926665"	"0"	"30"	"17"	"7809314"	"7809314"	"subst"	"0.000142565"	"02325"	"CHD3_000099"	"g.7809314G>A"	""	""	""	"CHD3(NM_001005271.3):c.4535+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926666"	"0"	"90"	"17"	"7811277"	"7811277"	"subst"	"0"	"02327"	"CHD3_000100"	"g.7811277C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000951057"	"0"	"70"	"17"	"7811001"	"7811002"	"del"	"0"	"02329"	"CHD3_000101"	"g.7811001_7811002del"	""	""	""	"CHD3(NM_001005273.3):c.5007_5008delAG (p.D1671Ffs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000951058"	"0"	"50"	"17"	"7812029"	"7812029"	"subst"	"0"	"02325"	"CHD3_000078"	"g.7812029G>A"	""	""	""	"CHD3(NM_001005271.3):c.5453G>A (p.R1818Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969262"	"0"	"50"	"17"	"7797141"	"7797141"	"subst"	"2.03057E-5"	"02325"	"CHD3_000102"	"g.7797141G>A"	""	""	""	"CHD3(NM_001005271.3):c.989G>A (p.R330Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969263"	"0"	"50"	"17"	"7802437"	"7802437"	"subst"	"0"	"02327"	"CHD3_000103"	"g.7802437G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982841"	"0"	"30"	"17"	"7788161"	"7788166"	"dup"	"0"	"01804"	"CHD3_000104"	"g.7788161_7788166dup"	""	""	""	"CHD3(NM_001005271.3):c.37_42dup (p.(Glu13_Glu14dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982842"	"0"	"50"	"17"	"7788303"	"7788303"	"subst"	"0"	"01804"	"CHD3_000105"	"g.7788303G>A"	""	""	""	"CHD3(NM_001005271.3):c.179G>A (p.(Arg60Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982843"	"0"	"50"	"17"	"7788369"	"7788370"	"ins"	"0"	"01804"	"CHD3_000106"	"g.7788369_7788370insCCC"	""	""	""	"CHD3(NM_001005271.3):c.245_246insCCC (p.(Pro82dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982844"	"0"	"50"	"17"	"7797485"	"7797485"	"subst"	"0"	"01804"	"CHD3_000107"	"g.7797485T>C"	""	""	""	"CHD3(NM_001005273.3):c.977T>C (p.(Leu326Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982846"	"0"	"50"	"17"	"7798290"	"7798292"	"del"	"0"	"01804"	"CHD3_000109"	"g.7798290_7798292del"	""	""	""	"CHD3(NM_001005273.3):c.1325_1327del (p.(Glu442del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982856"	"0"	"50"	"17"	"7806752"	"7806752"	"subst"	"0"	"01804"	"CHD3_000110"	"g.7806752A>T"	""	""	""	"CHD3(NM_001005273.3):c.3658A>T (p.(Met1220Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982863"	"0"	"30"	"17"	"7811230"	"7811230"	"subst"	"0.000350069"	"02325"	"CHD3_000111"	"g.7811230G>A"	""	""	""	"CHD3(NM_001005271.3):c.5222G>A (p.R1741Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982864"	"0"	"30"	"17"	"7814232"	"7814232"	"subst"	"1.65116E-5"	"01804"	"CHD3_000112"	"g.7814232G>A"	""	""	""	"CHD3(NM_001005273.3):c.5822G>A (p.(Gly1941Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982865"	"0"	"30"	"17"	"7814797"	"7814797"	"subst"	"2.43815E-5"	"01804"	"CHD3_000113"	"g.7814797C>T"	""	""	""	"CHD3(NM_001005273.3):c.5897C>T (p.(Pro1966Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003759"	"0"	"30"	"17"	"7788237"	"7788237"	"subst"	"0"	"01804"	"CHD3_000114"	"g.7788237C>A"	""	""	""	"CHD3(NM_001005271.2):c.113C>A (p.(Ala38Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003760"	"0"	"30"	"17"	"7788338"	"7788338"	"subst"	"0"	"01804"	"CHD3_000115"	"g.7788338C>T"	""	""	""	"CHD3(NM_001005271.2):c.214C>T (p.(Leu72Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003761"	"0"	"30"	"17"	"7788357"	"7788357"	"subst"	"0"	"01804"	"CHD3_000116"	"g.7788357C>T"	""	""	""	"CHD3(NM_001005271.2):c.233C>T (p.(Pro78Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003762"	"0"	"50"	"17"	"7793056"	"7793056"	"subst"	"0"	"01804"	"CHD3_000117"	"g.7793056G>A"	""	""	""	"CHD3(NM_001005273.2):c.175G>A (p.(Glu59Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003763"	"0"	"30"	"17"	"7793916"	"7793916"	"subst"	"0"	"01804"	"CHD3_000118"	"g.7793916C>T"	""	""	""	"CHD3(NM_001005273.2):c.241C>T (p.(Arg81*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003764"	"0"	"50"	"17"	"7793983"	"7793983"	"subst"	"1.2561E-5"	"02325"	"CHD3_000119"	"g.7793983G>A"	""	""	""	"CHD3(NM_001005271.3):c.485G>A (p.R162Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003765"	"0"	"50"	"17"	"7797253"	"7797253"	"subst"	"1.24348E-5"	"01804"	"CHD3_000120"	"g.7797253G>A"	""	""	""	"CHD3(NM_001005273.2):c.924G>A (p.(Ser308Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003766"	"0"	"50"	"17"	"7798343"	"7798343"	"subst"	"4.06141E-6"	"01804"	"CHD3_000121"	"g.7798343C>T"	""	""	""	"CHD3(NM_001005273.2):c.1378C>T (p.(Arg460Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003769"	"0"	"50"	"17"	"7801837"	"7801837"	"subst"	"2.43742E-5"	"01804"	"CHD3_000122"	"g.7801837C>T"	""	""	""	"CHD3(NM_001005273.2):c.2075C>T (p.(Pro692Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003774"	"0"	"30"	"17"	"7810552"	"7810552"	"subst"	"1.21879E-5"	"01804"	"CHD3_000123"	"g.7810552A>G"	""	""	""	"CHD3(NM_001005273.2):c.4775A>G (p.(Lys1592Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003775"	"0"	"50"	"17"	"7810928"	"7810928"	"subst"	"0"	"01804"	"CHD3_000124"	"g.7810928C>G"	""	""	""	"CHD3(NM_001005273.2):c.4934C>G (p.(Ser1645Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003776"	"0"	"10"	"17"	"7810931"	"7810931"	"subst"	"0"	"01804"	"CHD3_000125"	"g.7810931C>T"	""	""	""	"CHD3(NM_001005273.2):c.4937C>T (p.(Thr1646Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001003777"	"0"	"30"	"17"	"7810944"	"7810944"	"subst"	"0.000144516"	"01804"	"CHD3_000126"	"g.7810944G>C"	""	""	""	"CHD3(NM_001005273.2):c.4950G>C (p.(Arg1650Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003778"	"0"	"30"	"17"	"7811009"	"7811009"	"subst"	"0"	"01804"	"CHD3_000127"	"g.7811009T>C"	""	""	""	"CHD3(NM_001005273.2):c.5015T>C (p.(Leu1672Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003779"	"0"	"50"	"17"	"7811239"	"7811239"	"subst"	"0"	"01804"	"CHD3_000128"	"g.7811239G>A"	""	""	""	"CHD3(NM_001005273.2):c.5054G>A (p.(Arg1685Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003780"	"0"	"30"	"17"	"7813817"	"7813817"	"subst"	"4.06478E-6"	"01804"	"CHD3_000129"	"g.7813817C>G"	""	""	""	"CHD3(NM_001005273.2):c.5662C>G (p.(Arg1888Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003781"	"0"	"30"	"17"	"7814937"	"7814937"	"subst"	"8.14697E-6"	"01804"	"CHD3_000130"	"g.7814937G>A"	""	""	""	"CHD3(NM_001005273.2):c.*34G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001017746"	"0"	"70"	"17"	"7809236"	"7809236"	"subst"	"0"	"04775"	"CHD3_000131"	"g.7809236G>A"	""	""	""	""	"de novo in patient"	"De novo"	"?"	""	"0"	""	"46,XX"	"g.7809236G>A"	""	"benign"	"other"
"0001030076"	"0"	"70"	"17"	"7803968"	"7803968"	"subst"	"0"	"03779"	"CHD3_000132"	"g.7803968G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001030307"	"0"	"70"	"17"	"7803322"	"7803322"	"subst"	"0"	"03544"	"CHD3_000133"	"g.7803322G>A"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.7900004G>A"	"{CV:3780969}"	"likely pathogenic"	"ACMG"
"0001042215"	"0"	"30"	"17"	"7793916"	"7793916"	"subst"	"8.83166E-6"	"01804"	"CHD3_000135"	"g.7793916C>G"	""	""	""	"CHD3(NM_001005273.3):c.241C>G (p.(Arg81Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042216"	"0"	"50"	"17"	"7797756"	"7797756"	"subst"	"4.88488E-5"	"01804"	"CHD3_000136"	"g.7797756G>A"	""	""	""	"CHD3(NM_001005273.3):c.1099G>A (p.(Gly367Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042236"	"0"	"30"	"17"	"7809166"	"7809166"	"subst"	"0"	"01804"	"CHD3_000137"	"g.7809166A>T"	""	""	""	"CHD3(NM_001005273.3):c.4225-8A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042238"	"0"	"50"	"17"	"7810988"	"7810988"	"subst"	"0"	"01804"	"CHD3_000138"	"g.7810988C>T"	""	""	""	"CHD3(NM_001005273.3):c.4994C>T (p.(Pro1665Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042239"	"0"	"50"	"17"	"7811782"	"7811782"	"subst"	"4.06577E-6"	"01804"	"CHD3_000139"	"g.7811782A>G"	""	""	""	"CHD3(NM_001005273.3):c.5215A>G (p.(Ile1739Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046899"	"0"	"70"	"17"	"7802465"	"7802465"	"subst"	"0"	"03544"	"CHD3_000140"	"g.7802465T>C"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.7899147T>C"	"{CV:4086072}"	"likely pathogenic"	"ACMG"
"0001047585"	"0"	"70"	"17"	"7808472"	"7808472"	"subst"	"0"	"03544"	"CHD3_000141"	"g.7808472A>G"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.7905154A>G"	"{CV:4087719}"	"likely pathogenic"	"ACMG"
"0001055822"	"0"	"30"	"17"	"7797171"	"7797171"	"subst"	"7.71536E-5"	"01804"	"CHD3_000142"	"g.7797171G>A"	""	""	""	"CHD3(NM_001005273.3):c.842G>A (p.(Arg281His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055823"	"0"	"50"	"17"	"7800593"	"7800593"	"subst"	"4.06696E-6"	"01804"	"CHD3_000143"	"g.7800593C>T"	""	""	""	"CHD3(NM_001005273.3):c.1900C>T (p.(His634Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001066629"	"0"	"70"	"17"	"7797432"	"7797432"	"subst"	"8.15308E-6"	"01804"	"CHD3_000144"	"g.7797432G>A"	""	""	""	"CHD3(NM_001005273.3):c.925-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001066630"	"0"	"30"	"17"	"7798471"	"7798471"	"subst"	"3.26536E-5"	"02325"	"CHD3_000029"	"g.7798471G>A"	""	""	""	"CHD3(NM_001005271.2):c.1680+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001066631"	"0"	"50"	"17"	"7810698"	"7810698"	"subst"	"0"	"01804"	"CHD3_000145"	"g.7810698C>T"	""	""	""	"CHD3(NM_001005273.3):c.4816C>T (p.(Leu1606Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 CHD3
## Count = 166
"{{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}}"
"0000270143"	"00005080"	"70"	"3560"	"0"	"3560"	"0"	"c.3560G>C"	"r.(?)"	"p.(Arg1187Pro)"	""
"0000273445"	"00005080"	"30"	"4641"	"0"	"4641"	"0"	"c.4641C>G"	"r.(?)"	"p.(Thr1547=)"	""
"0000273446"	"00005080"	"50"	"5077"	"0"	"5077"	"0"	"c.5077C>T"	"r.(?)"	"p.(Arg1693Trp)"	""
"0000325172"	"00005080"	"30"	"-3961"	"0"	"-3953"	"0"	"c.-3961_-3953del"	"r.(?)"	"p.(=)"	""
"0000339090"	"00005080"	"50"	"2882"	"0"	"2882"	"0"	"c.2882G>A"	"r.(?)"	"p.(Gly961Glu)"	""
"0000342169"	"00005080"	"70"	"5642"	"0"	"5642"	"0"	"c.5642G>T"	"r.(?)"	"p.(Arg1881Leu)"	""
"0000563387"	"00005080"	"30"	"-4032"	"0"	"-4032"	"0"	"c.-4032G>C"	"r.(?)"	"p.(=)"	""
"0000563391"	"00005080"	"10"	"-3955"	"0"	"-3953"	"0"	"c.-3955_-3953dup"	"r.(?)"	"p.(=)"	""
"0000563394"	"00005080"	"30"	"-3944"	"0"	"-3944"	"0"	"c.-3944C>T"	"r.(?)"	"p.(=)"	""
"0000563395"	"00005080"	"50"	"1373"	"0"	"1373"	"0"	"c.1373A>T"	"r.(?)"	"p.(Tyr458Phe)"	""
"0000563405"	"00005080"	"30"	"2193"	"0"	"2193"	"0"	"c.2193C>T"	"r.(?)"	"p.(Ala731=)"	""
"0000563412"	"00005080"	"90"	"2897"	"0"	"2897"	"0"	"c.2897G>A"	"r.(?)"	"p.(Arg966Gln)"	""
"0000563414"	"00005080"	"50"	"3005"	"0"	"3005"	"0"	"c.3005G>C"	"r.(?)"	"p.(Arg1002Pro)"	""
"0000563415"	"00005080"	"70"	"3206"	"0"	"3206"	"0"	"c.3206T>C"	"r.(?)"	"p.(Leu1069Pro)"	""
"0000563426"	"00005080"	"50"	"3473"	"0"	"3473"	"0"	"c.3473G>A"	"r.(?)"	"p.(Trp1158Ter)"	""
"0000563428"	"00005080"	"70"	"3488"	"0"	"3488"	"0"	"c.3488A>T"	"r.(?)"	"p.(Asp1163Val)"	""
"0000563486"	"00005080"	"50"	"3877"	"0"	"3877"	"0"	"c.3877G>A"	"r.(?)"	"p.(Val1293Met)"	""
"0000563559"	"00005080"	"30"	"4573"	"0"	"4573"	"0"	"c.4573T>G"	"r.(?)"	"p.(Ser1525Ala)"	""
"0000563560"	"00005080"	"50"	"5093"	"0"	"5093"	"0"	"c.5093G>T"	"r.(?)"	"p.(Arg1698Leu)"	""
"0000616870"	"00005080"	"50"	"-3943"	"0"	"-3935"	"0"	"c.-3943_-3935del"	"r.(?)"	"p.(=)"	""
"0000616872"	"00005080"	"50"	"1430"	"0"	"1430"	"0"	"c.1430C>T"	"r.(?)"	"p.(Ser477Phe)"	""
"0000616873"	"00005080"	"30"	"1503"	"3"	"1503"	"3"	"c.1503+3G>A"	"r.spl?"	"p.?"	""
"0000623779"	"00005080"	"30"	"4826"	"0"	"4826"	"0"	"c.4826G>A"	"r.(?)"	"p.(Arg1609Gln)"	""
"0000629438"	"00005080"	"70"	"1706"	"0"	"1706"	"0"	"c.1706A>G"	"r.(?)"	"p.(Gln569Arg)"	""
"0000629439"	"00005080"	"90"	"2657"	"0"	"2657"	"0"	"c.2657A>G"	"r.(?)"	"p.(His886Arg)"	""
"0000631741"	"00005080"	"90"	"1706"	"0"	"1706"	"0"	"c.1706A>G"	"r.(?)"	"p.(Gln569Arg)"	""
"0000631742"	"00005080"	"90"	"2749"	"0"	"2749"	"0"	"c.2749A>T"	"r.(?)"	"p.(Asn917Tyr)"	""
"0000631743"	"00005080"	"90"	"2831"	"0"	"2831"	"0"	"c.2831T>A"	"r.(?)"	"p.(Phe944Tyr)"	""
"0000631744"	"00005080"	"90"	"2842"	"0"	"2842"	"0"	"c.2842T>C"	"r.(?)"	"p.(Ser948Pro)"	""
"0000631745"	"00005080"	"90"	"2896"	"0"	"2896"	"0"	"c.2896C>T"	"r.(?)"	"p.(Arg966Trp)"	""
"0000631746"	"00005080"	"90"	"2896"	"0"	"2896"	"0"	"c.2896C>T"	"r.(?)"	"p.(Arg966Trp)"	""
"0000631747"	"00005080"	"90"	"2896"	"0"	"2896"	"0"	"c.2896C>T"	"r.(?)"	"p.(Arg966Trp)"	""
"0000631748"	"00005080"	"90"	"2897"	"0"	"2897"	"0"	"c.2897G>C"	"r.(?)"	"p.(Arg966Pro)"	""
"0000631749"	"00005080"	"90"	"2905"	"0"	"2905"	"0"	"c.2905A>G"	"r.(?)"	"p.(Lys969Glu)"	""
"0000631750"	"00005080"	"90"	"3239"	"0"	"3239"	"0"	"c.3239T>A"	"r.(?)"	"p.(Leu1080His)"	""
"0000631751"	"00005080"	"90"	"3515"	"0"	"3515"	"0"	"c.3515G>A"	"r.(?)"	"p.(Arg1172Gln)"	""
"0000631752"	"00005080"	"90"	"3603"	"0"	"3614"	"0"	"c.3603_3614del"	"r.(?)"	"p.(Met1202_Thr1205del)"	""
"0000631753"	"00005080"	"90"	"3607"	"0"	"3609"	"0"	"c.3607_3609del"	"r.(?)"	"p.(Met1203del)"	""
"0000631754"	"00005080"	"90"	"3784"	"0"	"3784"	"0"	"c.3784C>T"	"r.(?)"	"p.(Arg1262Trp)"	""
"0000631755"	"00005080"	"90"	"4243"	"0"	"4243"	"0"	"c.4243C>T"	"r.(?)"	"p.(Arg1415Cys)"	""
"0000631756"	"00005080"	"90"	"5863"	"0"	"5863"	"0"	"c.5863G>T"	"r.(?)"	"p.(Ala1955Ser)"	""
"0000631757"	"00005080"	"90"	"4280"	"0"	"4280"	"0"	"c.4280G>A"	"r.(?)"	"p.(Trp1427*)"	""
"0000631758"	"00005080"	"90"	"1384"	"0"	"1384"	"0"	"c.1384del"	"r.(?)"	"p.(Cys462Alafs*22)"	""
"0000631759"	"00005080"	"90"	"1618"	"0"	"1618"	"0"	"c.1618dup"	"r.(?)"	"p.(Arg540Profs*47)"	""
"0000631760"	"00005080"	"90"	"4073"	"-3"	"4078"	"0"	"c.4073-3_4078del"	"r.spl"	"p.?"	""
"0000631761"	"00005080"	"90"	""	"0"	""	"0"	"c.-150_*1172[0]"	"r.0"	"p.0"	"_1_40_"
"0000631762"	"00005080"	"90"	""	"0"	""	"0"	"c.-150_*1172[0]"	"r.(=)"	"p.(=)"	"_1_40_"
"0000631775"	"00005080"	"90"	"1369"	"0"	"1369"	"0"	"c.1369G>T"	"r.(?)"	"p.(Glu457*)"	""
"0000631776"	"00005080"	"90"	"2657"	"0"	"2657"	"0"	"c.2657A>G"	"r.(?)"	"p.(His886Arg)"	""
"0000631777"	"00005080"	"90"	"2745"	"0"	"2745"	"0"	"c.2745G>T"	"r.(?)"	"p.(Leu915Phe)"	""
"0000631778"	"00005080"	"90"	"2761"	"0"	"2761"	"0"	"c.2761G>A"	"r.(?)"	"p.(Glu921Lys)"	""
"0000631779"	"00005080"	"90"	"2882"	"0"	"2882"	"0"	"c.2882G>A"	"r.(?)"	"p.(Gly961Glu)"	""
"0000631780"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000631781"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000631782"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000631783"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000631784"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000631785"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000631786"	"00005080"	"90"	"2954"	"0"	"2954"	"0"	"c.2954G>A"	"r.(?)"	"p.(Arg985Gln)"	""
"0000631787"	"00005080"	"90"	"2954"	"0"	"2954"	"0"	"c.2954G>A"	"r.(?)"	"p.(Arg985Gln)"	""
"0000631788"	"00005080"	"90"	"3325"	"0"	"3327"	"0"	"c.3325_3327del"	"r.(?)"	"p.(Gly1109del)"	""
"0000631789"	"00005080"	"90"	"3357"	"0"	"3358"	"0"	"c.3357_3358delinsTC"	"r.(?)"	"p.(Asp1120His)"	""
"0000631790"	"00005080"	"90"	"3362"	"0"	"3362"	"0"	"c.3362G>C"	"r.(?)"	"p.(Arg1121Pro)"	""
"0000631791"	"00005080"	"90"	"3407"	"0"	"3407"	"0"	"c.3407C>T"	"r.(?)"	"p.(Thr1136Ile)"	""
"0000631792"	"00005080"	"90"	"3472"	"0"	"3472"	"0"	"c.3472T>C"	"r.(?)"	"p.(Trp1158Arg)"	""
"0000631793"	"00005080"	"90"	"3477"	"0"	"3477"	"0"	"c.3477C>A"	"r.(?)"	"p.(Asn1159Lys)"	""
"0000631794"	"00005080"	"90"	"3482"	"0"	"3482"	"0"	"c.3482A>G"	"r.(?)"	"p.(His1161Arg)"	""
"0000631795"	"00005080"	"90"	"3482"	"0"	"3482"	"0"	"c.3482A>G"	"r.(?)"	"p.(His1161Arg)"	""
"0000631796"	"00005080"	"90"	"3505"	"0"	"3505"	"0"	"c.3505C>T"	"r.(?)"	"p.(Arg1169Trp)"	""
"0000631797"	"00005080"	"90"	"3505"	"0"	"3505"	"0"	"c.3505C>T"	"r.(?)"	"p.(Arg1169Trp)"	""
"0000631798"	"00005080"	"90"	"3505"	"0"	"3505"	"0"	"c.3505C>T"	"r.(?)"	"p.(Arg1169Trp)"	""
"0000631799"	"00005080"	"90"	"3512"	"0"	"3512"	"0"	"c.3512A>G"	"r.(?)"	"p.(His1171Arg)"	""
"0000631800"	"00005080"	"90"	"3515"	"0"	"3515"	"0"	"c.3515G>A"	"r.(?)"	"p.(Arg1172Gln)"	""
"0000631801"	"00005080"	"90"	"3515"	"0"	"3515"	"0"	"c.3515G>A"	"r.(?)"	"p.(Arg1172Gln)"	""
"0000631802"	"00005080"	"90"	"3515"	"0"	"3515"	"0"	"c.3515G>A"	"r.(?)"	"p.(Arg1172Gln)"	""
"0000631803"	"00005080"	"90"	"3560"	"0"	"3560"	"0"	"c.3560G>C"	"r.(?)"	"p.(Arg1187Pro)"	""
"0000631804"	"00005080"	"90"	"3560"	"0"	"3560"	"0"	"c.3560G>C"	"r.(?)"	"p.(Arg1187Pro)"	""
"0000631805"	"00005080"	"90"	"3707"	"0"	"3707"	"0"	"c.3707T>C"	"r.(?)"	"p.(Leu1236Pro)"	""
"0000631806"	"00005080"	"90"	"4025"	"0"	"4025"	"0"	"c.4025G>A"	"r.(?)"	"p.(Arg1342Gln)"	""
"0000631807"	"00005080"	"90"	"4073"	"-2"	"4073"	"-2"	"c.4073-2A>G"	"r.spl"	"p.?"	""
"0000631808"	"00005080"	"90"	"5642"	"0"	"5642"	"0"	"c.5642G>T"	"r.(?)"	"p.(Arg1881Leu)"	""
"0000631809"	"00005080"	"90"	"5802"	"0"	"5803"	"0"	"c.5802_5803insGAAC"	"r.(?)"	"p.(Phe1935Glufs*108)"	""
"0000631967"	"00005080"	"90"	"3505"	"0"	"3505"	"0"	"c.3505C>T"	"r.(?)"	"p.(Arg1169Trp)"	""
"0000658283"	"00005080"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Arg985Trp)"	""
"0000681052"	"00005080"	"50"	"1888"	"0"	"1888"	"0"	"c.1888T>C"	"r.(?)"	"p.(Trp630Arg)"	""
"0000681053"	"00005080"	"30"	"2344"	"-3"	"2344"	"-3"	"c.2344-3C>T"	"r.spl?"	"p.?"	""
"0000681055"	"00005080"	"50"	"3217"	"0"	"3217"	"0"	"c.3217A>C"	"r.(?)"	"p.(Lys1073Gln)"	""
"0000681056"	"00005080"	"50"	"3409"	"0"	"3409"	"0"	"c.3409C>T"	"r.(?)"	"p.(Arg1137Ter)"	""
"0000681060"	"00005080"	"30"	"3548"	"0"	"3548"	"0"	"c.3548G>A"	"r.(?)"	"p.(Arg1183Gln)"	""
"0000692501"	"00005080"	"30"	"793"	"4"	"793"	"4"	"c.793+4G>A"	"r.spl?"	"p.?"	""
"0000692504"	"00005080"	"30"	"4425"	"0"	"4425"	"0"	"c.4425C>T"	"r.(?)"	"p.(Ala1475=)"	""
"0000726733"	"00005080"	"10"	"-3955"	"0"	"-3953"	"0"	"c.-3955_-3953dup"	"r.(?)"	"p.(=)"	""
"0000726734"	"00005080"	"50"	"2084"	"0"	"2084"	"0"	"c.2084C>T"	"r.(?)"	"p.(Pro695Leu)"	""
"0000726735"	"00005080"	"50"	"2422"	"0"	"2422"	"0"	"c.2422G>T"	"r.(?)"	"p.(Ala808Ser)"	""
"0000726736"	"00005080"	"70"	"2842"	"0"	"2842"	"0"	"c.2842T>C"	"r.(?)"	"p.(Ser948Pro)"	""
"0000726746"	"00005080"	"50"	"5045"	"0"	"5045"	"0"	"c.5045G>T"	"r.(?)"	"p.(Arg1682Leu)"	""
"0000726747"	"00005080"	"50"	"5276"	"0"	"5276"	"0"	"c.5276G>A"	"r.(?)"	"p.(Arg1759Gln)"	""
"0000794902"	"00005080"	"50"	"4004"	"0"	"4004"	"0"	"c.4004G>A"	"r.(?)"	"p.(Arg1335Gln)"	""
"0000808300"	"00005080"	"50"	"722"	"0"	"722"	"0"	"c.722C>T"	"r.(?)"	"p.(Ala241Val)"	""
"0000808303"	"00005080"	"70"	"3319"	"0"	"3319"	"0"	"c.3319G>A"	"r.(?)"	"p.(Asp1107Asn)"	""
"0000808307"	"00005080"	"50"	"3877"	"0"	"3877"	"0"	"c.3877G>C"	"r.(?)"	"p.(Val1293Leu)"	""
"0000808314"	"00005080"	"10"	"4826"	"0"	"4826"	"0"	"c.4826G>A"	"r.(?)"	"p.(Arg1609Gln)"	""
"0000808315"	"00005080"	"50"	"5011"	"0"	"5011"	"0"	"c.5011G>A"	"r.(?)"	"p.(Asp1671Asn)"	""
"0000808316"	"00005080"	"50"	"5776"	"0"	"5776"	"0"	"c.5776G>T"	"r.(?)"	"p.(Ala1926Ser)"	""
"0000821032"	"00005080"	"50"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	""
"0000855142"	"00005080"	"90"	"3505"	"0"	"3505"	"0"	"c.3505C>T"	"r.(?)"	"p.(Arg1169Trp)"	""
"0000878655"	"00005080"	"50"	"3171"	"0"	"3171"	"0"	"c.3171G>C"	"r.(?)"	"p.(Lys1057Asn)"	""
"0000894323"	"00005080"	"50"	"81"	"0"	"81"	"0"	"c.81T>A"	"r.(?)"	"p.(Cys27*)"	""
"0000894324"	"00005080"	"50"	"125"	"0"	"125"	"0"	"c.125C>T"	"r.(?)"	"p.(Pro42Leu)"	""
"0000894325"	"00005080"	"50"	"1301"	"0"	"1301"	"0"	"c.1301A>G"	"r.(?)"	"p.(Glu434Gly)"	""
"0000894326"	"00005080"	"30"	"2327"	"0"	"2327"	"0"	"c.2327A>G"	"r.(?)"	"p.(Tyr776Cys)"	""
"0000894327"	"00005080"	"70"	"3706"	"0"	"3714"	"0"	"c.3706_3714del"	"r.(?)"	"p.(Leu1236_Lys1238del)"	""
"0000894328"	"00005080"	"50"	"3835"	"0"	"3835"	"0"	"c.3835A>G"	"r.(?)"	"p.(Met1279Val)"	""
"0000894331"	"00005080"	"50"	"4129"	"0"	"4129"	"0"	"c.4129C>T"	"r.(?)"	"p.(Arg1377Cys)"	""
"0000894333"	"00005080"	"30"	"5735"	"0"	"5735"	"0"	"c.5735C>T"	"r.(?)"	"p.(Thr1912Met)"	""
"0000914988"	"00005080"	"70"	"3506"	"0"	"3506"	"0"	"c.3506G>A"	"r.(?)"	"p.(Arg1169Gln)"	""
"0000922455"	"00005080"	"50"	"1748"	"0"	"1748"	"0"	"c.1748G>A"	"r.(?)"	"p.(Arg583Gln)"	""
"0000926654"	"00005080"	"70"	"2771"	"0"	"2771"	"0"	"c.2771A>G"	"r.(?)"	"p.(His924Arg)"	""
"0000926655"	"00005080"	"70"	"3061"	"0"	"3061"	"0"	"c.3061A>T"	"r.(?)"	"p.(Ile1021Phe)"	""
"0000926665"	"00005080"	"30"	"4358"	"7"	"4358"	"7"	"c.4358+7G>A"	"r.(=)"	"p.(=)"	""
"0000926666"	"00005080"	"90"	"5092"	"0"	"5092"	"0"	"c.5092C>T"	"r.(?)"	"p.(Arg1698*)"	""
"0000951057"	"00005080"	"70"	"5007"	"0"	"5008"	"0"	"c.5007_5008del"	"r.(?)"	"p.(Asp1671Phefs*10)"	""
"0000951058"	"00005080"	"50"	"5276"	"0"	"5276"	"0"	"c.5276G>A"	"r.(?)"	"p.(Arg1759Gln)"	""
"0000969262"	"00005080"	"50"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Arg271Gln)"	""
"0000969263"	"00005080"	"50"	"2260"	"0"	"2260"	"0"	"c.2260G>A"	"r.(?)"	"p.(Gly754Ser)"	""
"0000982841"	"00005080"	"30"	"-4158"	"0"	"-4153"	"0"	"c.-4158_-4153dup"	"r.(?)"	"p.(=)"	""
"0000982842"	"00005080"	"50"	"-4016"	"0"	"-4016"	"0"	"c.-4016G>A"	"r.(?)"	"p.(=)"	""
"0000982843"	"00005080"	"50"	"-3950"	"0"	"-3949"	"0"	"c.-3950_-3949insCCC"	"r.(?)"	"p.(=)"	""
"0000982844"	"00005080"	"50"	"977"	"0"	"977"	"0"	"c.977T>C"	"r.(?)"	"p.(Leu326Pro)"	""
"0000982846"	"00005080"	"50"	"1325"	"0"	"1327"	"0"	"c.1325_1327del"	"r.(?)"	"p.(Glu442del)"	""
"0000982856"	"00005080"	"50"	"3658"	"0"	"3658"	"0"	"c.3658A>T"	"r.(?)"	"p.(Met1220Leu)"	""
"0000982863"	"00005080"	"30"	"5045"	"0"	"5045"	"0"	"c.5045G>A"	"r.(?)"	"p.(Arg1682Gln)"	""
"0000982864"	"00005080"	"30"	"5822"	"0"	"5822"	"0"	"c.5822G>A"	"r.(?)"	"p.(Gly1941Glu)"	""
"0000982865"	"00005080"	"30"	"5897"	"0"	"5897"	"0"	"c.5897C>T"	"r.(?)"	"p.(Pro1966Leu)"	""
"0001003759"	"00005080"	"30"	"-4082"	"0"	"-4082"	"0"	"c.-4082C>A"	"r.(?)"	"p.(=)"	""
"0001003760"	"00005080"	"30"	"-3981"	"0"	"-3981"	"0"	"c.-3981C>T"	"r.(?)"	"p.(=)"	""
"0001003761"	"00005080"	"30"	"-3962"	"0"	"-3962"	"0"	"c.-3962C>T"	"r.(?)"	"p.(=)"	""
"0001003762"	"00005080"	"50"	"175"	"0"	"175"	"0"	"c.175G>A"	"r.(?)"	"p.(Glu59Lys)"	""
"0001003763"	"00005080"	"30"	"241"	"0"	"241"	"0"	"c.241C>T"	"r.(?)"	"p.(Arg81*)"	""
"0001003764"	"00005080"	"50"	"308"	"0"	"308"	"0"	"c.308G>A"	"r.(?)"	"p.(Arg103Gln)"	""
"0001003765"	"00005080"	"50"	"924"	"0"	"924"	"0"	"c.924G>A"	"r.(?)"	"p.(=)"	""
"0001003766"	"00005080"	"50"	"1378"	"0"	"1378"	"0"	"c.1378C>T"	"r.(?)"	"p.(Arg460Cys)"	""
"0001003769"	"00005080"	"50"	"2075"	"0"	"2075"	"0"	"c.2075C>T"	"r.(?)"	"p.(Pro692Leu)"	""
"0001003774"	"00005080"	"30"	"4775"	"0"	"4775"	"0"	"c.4775A>G"	"r.(?)"	"p.(Lys1592Arg)"	""
"0001003775"	"00005080"	"50"	"4934"	"0"	"4934"	"0"	"c.4934C>G"	"r.(?)"	"p.(Ser1645Trp)"	""
"0001003776"	"00005080"	"10"	"4937"	"0"	"4937"	"0"	"c.4937C>T"	"r.(?)"	"p.(Thr1646Met)"	""
"0001003777"	"00005080"	"30"	"4950"	"0"	"4950"	"0"	"c.4950G>C"	"r.(?)"	"p.(Arg1650Ser)"	""
"0001003778"	"00005080"	"30"	"5015"	"0"	"5015"	"0"	"c.5015T>C"	"r.(?)"	"p.(Leu1672Ser)"	""
"0001003779"	"00005080"	"50"	"5054"	"0"	"5054"	"0"	"c.5054G>A"	"r.(?)"	"p.(Arg1685Gln)"	""
"0001003780"	"00005080"	"30"	"5662"	"0"	"5662"	"0"	"c.5662C>G"	"r.(?)"	"p.(Arg1888Gly)"	""
"0001003781"	"00005080"	"30"	"6037"	"0"	"6037"	"0"	"c.*34G>A"	"r.(=)"	"p.(=)"	""
"0001017746"	"00005080"	"70"	"4287"	"0"	"4287"	"0"	"c.4287G>A"	"r.(?)"	"p.(Met1429Ile)"	"28"
"0001030076"	"00005080"	"70"	"2897"	"0"	"2897"	"0"	"c.2897G>T"	"r.(?)"	"p.(Arg966Leu)"	""
"0001030307"	"00005080"	"70"	"2653"	"0"	"2653"	"0"	"c.2653G>A"	"r.(?)"	"p.(Ala885Thr)"	"16"
"0001042215"	"00005080"	"30"	"241"	"0"	"241"	"0"	"c.241C>G"	"r.(?)"	"p.(Arg81Gly)"	""
"0001042216"	"00005080"	"50"	"1099"	"0"	"1099"	"0"	"c.1099G>A"	"r.(?)"	"p.(Gly367Arg)"	""
"0001042236"	"00005080"	"30"	"4225"	"-8"	"4225"	"-8"	"c.4225-8A>T"	"r.(=)"	"p.(=)"	""
"0001042238"	"00005080"	"50"	"4994"	"0"	"4994"	"0"	"c.4994C>T"	"r.(?)"	"p.(Pro1665Leu)"	""
"0001042239"	"00005080"	"50"	"5215"	"0"	"5215"	"0"	"c.5215A>G"	"r.(?)"	"p.(Ile1739Val)"	""
"0001046899"	"00005080"	"70"	"2288"	"0"	"2288"	"0"	"c.2288T>C"	"r.(?)"	"p.(Met763Thr)"	"14"
"0001047585"	"00005080"	"70"	"4127"	"0"	"4127"	"0"	"c.4127A>G"	"r.(?)"	"p.(Glu1376Gly)"	"26"
"0001055822"	"00005080"	"30"	"842"	"0"	"842"	"0"	"c.842G>A"	"r.(?)"	"p.(Arg281His)"	""
"0001055823"	"00005080"	"50"	"1900"	"0"	"1900"	"0"	"c.1900C>T"	"r.(?)"	"p.(His634Tyr)"	""
"0001066629"	"00005080"	"70"	"925"	"-1"	"925"	"-1"	"c.925-1G>A"	"r.spl?"	"p.?"	""
"0001066630"	"00005080"	"30"	"1503"	"3"	"1503"	"3"	"c.1503+3G>A"	"r.spl?"	"p.?"	""
"0001066631"	"00005080"	"50"	"4816"	"0"	"4816"	"0"	"c.4816C>T"	"r.(?)"	"p.(Leu1606Phe)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 68
"{{screeningid}}"	"{{variantid}}"
"0000275433"	"0000629438"
"0000275434"	"0000629439"
"0000276993"	"0000631741"
"0000276994"	"0000631742"
"0000276995"	"0000631743"
"0000276996"	"0000631744"
"0000276997"	"0000631745"
"0000276998"	"0000631746"
"0000276999"	"0000631747"
"0000277000"	"0000631748"
"0000277001"	"0000631749"
"0000277002"	"0000631750"
"0000277003"	"0000631751"
"0000277004"	"0000631752"
"0000277005"	"0000631753"
"0000277006"	"0000631754"
"0000277007"	"0000631755"
"0000277008"	"0000631756"
"0000277009"	"0000631757"
"0000277010"	"0000631758"
"0000277011"	"0000631759"
"0000277012"	"0000631760"
"0000277013"	"0000631761"
"0000277014"	"0000631762"
"0000277015"	"0000631967"
"0000277044"	"0000631775"
"0000277045"	"0000631776"
"0000277046"	"0000631777"
"0000277047"	"0000631778"
"0000277048"	"0000631779"
"0000277049"	"0000631780"
"0000277050"	"0000631781"
"0000277051"	"0000631782"
"0000277052"	"0000631783"
"0000277053"	"0000631784"
"0000277054"	"0000631785"
"0000277055"	"0000631786"
"0000277056"	"0000631787"
"0000277057"	"0000631788"
"0000277058"	"0000631789"
"0000277059"	"0000631790"
"0000277060"	"0000631791"
"0000277061"	"0000631792"
"0000277062"	"0000631793"
"0000277063"	"0000631794"
"0000277064"	"0000631795"
"0000277065"	"0000631796"
"0000277066"	"0000631797"
"0000277067"	"0000631798"
"0000277068"	"0000631799"
"0000277069"	"0000631800"
"0000277070"	"0000631801"
"0000277071"	"0000631802"
"0000277072"	"0000631803"
"0000277073"	"0000631804"
"0000277074"	"0000631805"
"0000277075"	"0000631806"
"0000277076"	"0000631807"
"0000277077"	"0000631808"
"0000277078"	"0000631809"
"0000381442"	"0000794902"
"0000391293"	"0000821032"
"0000418789"	"0000878655"
"0000436114"	"0000922455"
"0000459655"	"0001017746"
"0000466346"	"0001030307"
"0000467688"	"0001046899"
"0000468093"	"0001047585"