### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHD8) # 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}}" "CHD8" "chromodomain helicase DNA binding protein 8" "14" "q11.2" "unknown" "NG_021249.1" "UD_132085250482" "" "https://www.LOVD.nl/CHD8" "" "1" "20153" "57680" "610528" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CHD8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-04 09:48:41" "00006" "2025-12-19 18:53:31" ## 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}}" "00025729" "CHD8" "transcript variant 1" "002" "NM_001170629.1" "" "NP_001164100.1" "" "" "" "-65" "8165" "7746" "21899867" "21853353" "00006" "2022-08-11 14:04:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "03813" "IDDAM;AUTS18" "intellectual developmental disorder with autism and macrocephaly" "AD" "615032" "" "0.88 behavioural problems (HP:0000708), 0.76 autism spectrum disorder or autistic behaviour (HP:0000729), 0.32 short attention span (HP:0000736), 0.31 abnormal social behaviour (HP:0012433), 0.29 sleep disturbance (HP:0002360), 0.27 impaired social interactions (HP:0000735), 0.21 stereotypy (HP:0000733), 0.20 insomnia (HP:0100785), 0.17 abnormal aggressive, impulsive or violent behaviour (HP:0006919), 0.17 impairment in personality functioning (HP:0031466), 0.16 poor eye contact (HP:0000817), 0.14 repetitive compulsive behaviour (HP:0008762)" "" "00006" "2014-09-25 23:29:40" "00006" "2024-08-16 16:33:07" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05535" "macrocephaly" "macrocephaly" "IC" "" "" "" "" "00006" "2018-12-22 14:33:20" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CHD8" "03813" ## 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}}" "00050620" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00111394" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "F" "" "" "" "0" "" "" "" "S_063" "00144674" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00147124" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat47_S3" "00168115" "" "" "" "1" "" "02537" "{PMID:Du 2018:30555518}" "" "F" "" "China" "" "0" "" "" "" "" "00276353" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "159323" "00290975" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290976" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303959" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00315050" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1281" "00320150" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00326939" "" "" "" "1" "" "00006" "{PMID:Sadler 2021:33352116}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "CM1-1136" "00326940" "" "" "" "1" "" "00006" "{PMID:Sadler 2021:33352116}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "CM1-9001" "00326941" "" "" "" "1" "" "00006" "{PMID:Sadler 2021:33352116}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "CM1-OPBG-1" "00412455" "" "" "" "1" "" "00006" "{PMID:Velmans 2012:34321323}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00414700" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "199650" "00415217" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "203567" "00427999" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A093" "00432983" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "198766" "00433659" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00438385" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat104" "00440368" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2102.1" "00449811" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00449870" "" "" "" "1" "" "04653" "" "" "M" "" "" "" "" "" "" "" "" "00450264" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0026" "00450265" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0393" "00450266" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0666" "00450267" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1528" "00450268" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1723" "00450269" "" "" "" "2" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "family, affected mother/child" "" "" "United States" "" "0" "" "" "" "COG0159" "00450270" "" "" "" "2" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "family, affected mother/child" "" "" "United States" "" "0" "" "" "" "COG0663" "00450271" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0013" "00450272" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0083" "00450273" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0270" "00450274" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0682" "00450275" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1977" "00452066" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453288" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00061" "00453289" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00248" "00453290" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00136" "00453291" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00156" "00453292" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S03375" "00453293" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00216" "00453294" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00244" "00453295" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S03401" "00453296" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00221" "00453297" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00009" "00453298" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00225" "00453299" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00221" "00453300" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00069" "00453301" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S03337" "00453302" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00081" "00453303" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00138" "00453304" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S00234" "00453305" "" "" "" "1" "" "00006" "{PMID:Merner 2016:26789910}" "analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases" "" "" "United States" "" "0" "" "" "" "S03337" "00454825" "" "" "" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "2-generation family, 1 affected, healthy carrier mother" "M" "no" "Netherlands" "" "0" "" "" "" "Pat1" "00455157" "" "" "" "1" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" "00455158" "" "" "" "1" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" "00455159" "" "" "" "2" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" "00455864" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat104" "00464294" "" "" "" "1" "" "04409" "" "" "M" "no" "China" "" "" "" "" "Chinese" "R072" "00466419" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "" "" "00466882" "" "" "" "3" "cc_by-nc-nd_4.0;1" "04903" "" "2-generation family, affected mother/2 sons" "M" "" "Germany" "" "0" "" "" "" "patient" "00466883" "" "" "00466882" "1" "cc_by-nc-nd_4.0;1" "04903" "" "brother" "M" "" "Germany" "" "0" "" "" "" "family" "00466884" "" "" "00466882" "1" "" "04903" "" "mother" "F" "" "Germany" "" "0" "" "" "" "family" "00467742" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Pat14" "00471323" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "patient" "" "" "" "" "0" "" "" "" "CB-DYS-194" "00471324" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "patient" "" "" "" "" "0" "" "" "" "CB-DYS-227" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 68 "{{individualid}}" "{{diseaseid}}" "00050620" "00198" "00111394" "00138" "00144674" "00198" "00147124" "05162" "00168115" "03813" "00276353" "05162" "00290975" "00198" "00290976" "00198" "00303959" "00198" "00315050" "00198" "00320150" "00198" "00326939" "00198" "00326940" "00198" "00326941" "00198" "00412455" "05611" "00414700" "03813" "00415217" "03813" "00427999" "00198" "00432983" "03813" "00433659" "03813" "00438385" "04270" "00440368" "00198" "00449811" "00138" "00449870" "00212" "00450264" "00198" "00450265" "00198" "00450266" "00198" "00450267" "00198" "00450268" "00198" "00450269" "00198" "00450270" "00198" "00450271" "00198" "00450272" "00198" "00450273" "00198" "00450274" "00198" "00450275" "00198" "00452066" "05535" "00453288" "00198" "00453289" "00198" "00453290" "00198" "00453291" "00198" "00453292" "00198" "00453293" "00198" "00453294" "00198" "00453295" "00198" "00453296" "00198" "00453297" "00198" "00453298" "00198" "00453299" "00198" "00453300" "00198" "00453301" "00198" "00453302" "00198" "00453303" "00198" "00453304" "00198" "00453305" "00198" "00454825" "05611" "00455157" "00212" "00455158" "00212" "00455159" "00212" "00455864" "00198" "00464294" "00139" "00466419" "05611" "00466882" "00198" "00466883" "00198" "00466884" "00198" "00467742" "05611" "00471323" "00108" "00471324" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00138, 00139, 00198, 00212, 03813, 04270, 05162, 05535, 05611 ## Count = 59 "{{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}}" "0000037232" "00198" "00050620" "00006" "Unknown" "" "autism with high cognitive abilities, specific learning disability, small chin" "" "" "" "" "" "" "" "" "" "" "" "0000087479" "00138" "00111394" "00729" "Isolated (sporadic)" "" "Mild ID, wide ventricles, constipation, social difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000117410" "00198" "00144674" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Tall stature (HP:0000098); Autism (HP:0000717); Stereotypy (HP:0000733)" "" "" "" "" "" "" "" "" "" "" "" "0000171223" "05162" "00147124" "02357" "Isolated (sporadic)" "" "developmental delay, intellectual disability, no epilepsy, obesity, ADHD" "" "" "" "" "" "" "" "" "AUTS-18" "developmental delay" "" "0000210936" "05162" "00276353" "01164" "Unknown" "" "developmental delay, in particular language. behaviour, stereotypes, bodylenght >97th percentile / HPO´s: Tall stature; Behavioral abnormality; Stereotypy; Delayed speech and language development; Global developmental delay" "" "" "" "" "" "" "" "" "" "2y" "" "0000231019" "00198" "00303959" "01807" "Unknown" "" "Autism (HP:0000717); Global developmental delay (HP:0001263); Macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "0000238802" "00198" "00315050" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "chromatinopathy" "" "0000242196" "00198" "00320150" "01807" "Unknown" "" "Macrocephaly (HP:0000256); Autism (HP:0000717); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Sleep disturbance (HP:0002360); Cognitive impairment (HP:0100543)" "" "" "" "" "" "" "" "" "" "" "" "0000245404" "00198" "00326939" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Chiari I malformation" "" "0000245405" "00198" "00326940" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Chiari I malformation" "" "0000245406" "00198" "00326941" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Chiari I malformation" "" "0000304457" "05611" "00412455" "00006" "Isolated (sporadic)" "04y" "macrocephaly, OFC Z+3.3; no dolichocephaly; large forehead; epicanthal folds; no deep-set eyes; no prominent nasolabial folds; no full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; 23m-walk; developmental speech delay (after regression); 15 months; developmental regression; intellectual disability; autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; muscular hypotonia; no ADHD; stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; no cerebral cysts; delayed myelination; constipation; no gastroesophageal reflux; no vomiting; mild left eye strabismus, hypertelorism, 1d-polycythemia" "" "" "" "" "" "" "" "" "ODLURO;IDDAM" "neurodevelopmental delay" "" "0000306495" "03813" "00414700" "01164" "Isolated (sporadic)" "06y" "Obesity, Tall stature, Neurodevelopmental delay, Obsessive-compulsive trait, Impaired continence, Anxiety" "" "" "" "" "" "" "" "" "" "" "" "0000307015" "03813" "00415217" "01164" "Unknown" "11y" "Intellectual disability, Delayed speech and language development, Tall stature, Obesity, Precocious puberty, Global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000318945" "00198" "00427999" "00006" "Familial, autosomal dominant" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "0000323536" "03813" "00432983" "01164" "Unknown" "04y" "Global developmental delay, Hypotonia, Cachexia, Muscle weakness, Ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000324082" "03813" "00433659" "03544" "Isolated (sporadic)" "" "intellectual disability, developmental delay, tall stature" "" "" "" "" "" "" "" "" "" "" "" "0000328289" "04270" "00438385" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001249 intellectual disability" "2y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330278" "00198" "00440368" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Susceptibility to autism 18 (MIM #615032)" "" "" "0000338957" "00138" "00449811" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0007018, HP:0010864, HP:0000750, HP:0001250" "" "" "" "" "" "" "" "" "IDDAM" "autism" "" "0000339017" "00212" "00449870" "04653" "Isolated (sporadic)" "" "Autism, Tall stature, Macrocephaly, Schizophrenia" "" "" "" "" "" "" "" "" "Intellectual developmental disorder with autism and macrocephaly" "" "" "0000339324" "00198" "00450264" "00006" "Isolated (sporadic)" "22y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339325" "00198" "00450265" "00006" "Isolated (sporadic)" "26y" "overgrowth head, overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339326" "00198" "00450266" "00006" "Isolated (sporadic)" "13y" "overgrowth head, overgrowth height; severe intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339327" "00198" "00450267" "00006" "Isolated (sporadic)" "26y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339328" "00198" "00450268" "00006" "Isolated (sporadic)" "11y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339329" "00198" "00450269" "00006" "Familial, autosomal dominant" "15y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339330" "00198" "00450270" "00006" "Familial, autosomal dominant" "28y" "overgrowth head; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339331" "00198" "00450271" "00006" "Unknown" "28y" "overgrowth; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339332" "00198" "00450272" "00006" "Unknown" "13y2m" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339333" "00198" "00450273" "00006" "Unknown" "14y" "overgrowth; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339334" "00198" "00450274" "00006" "Unknown" "6y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339335" "00198" "00450275" "00006" "Unknown" "11y" "overgrowth; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000340670" "05535" "00452066" "03544" "Isolated (sporadic)" "" "HP:0000256, HP:0005490, HP:0001520" "" "" "" "" "" "" "" "" "IDDAM" "macrocephaly" "" "0000341951" "00198" "00453288" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000341952" "00198" "00453289" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341953" "00198" "00453290" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000341954" "00198" "00453291" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341955" "00198" "00453292" "00006" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000341956" "00198" "00453293" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341957" "00198" "00453294" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341958" "00198" "00453295" "00006" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000341959" "00198" "00453296" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341960" "00198" "00453297" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000341961" "00198" "00453298" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341962" "00198" "00453299" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341963" "00198" "00453300" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000341964" "00198" "00453301" "00006" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000341965" "00198" "00453302" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000341966" "00198" "00453303" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000341967" "00198" "00453304" "00006" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "schizophrenia" "" "0000341968" "00198" "00453305" "00006" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000343435" "05611" "00454825" "00006" "Familial, autosomal dominant" "3y" "see paper; ..., intellectual disability, autism spectrum disorder, macrocephaly; MRI brain normal; mother healthy but macrocephalic (OFC 61.2cm +3.5 SD)" "" "" "" "" "" "" "" "" "IDDAM" "neurodevelopmental delay" "" "0000344397" "00198" "00455864" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "IDDAM" "neurogenetic diseases" "" "0000350370" "00139" "00464294" "04409" "Isolated (sporadic)" "01y02m" "Macrosomia, hypotonia, fine motor/gross motor/language developmental delay, intellectual disability." "" "" "" "luoxiaomei" "" "" "" "" "mental retardation" "mental retardation" "" "0000351783" "05611" "00466419" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000729, HP:0007018, HP:0000708, HP:0001256, HP:0002342" "" "" "" "" "" "" "" "" "IDDAM" "complex NDD" "" "0000352894" "05611" "00467742" "00006" "Unknown" "22y" "see paper; ..., moderate intellectual developmental disorder; 12m-walk; 9y-first words; speech sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder, prior violent behavior; no seizures; narrow ears, mild synorphrys; normal extremities; no postnatal growth retardation; obesity during chilhood" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" "0000356160" "00108" "00471323" "00006" "Unknown" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000356161" "00108" "00471324" "00006" "Unknown" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "" "dystonia" "" ## 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}}" "0000050565" "00050620" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000111859" "00111394" "1" "00729" "00729" "2017-08-03 00:44:07" "" "" "SEQ-NG" "DNA" "" "" "0000145531" "00144674" "0" "01807" "01807" "2017-12-21 13:09:05" "" "" "SEQ" "DNA" "" "" "0000147979" "00147124" "1" "02357" "02357" "2018-01-02 10:57:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000168987" "00168115" "1" "02537" "02537" "2018-07-20 09:21:45" "" "" "SEQ-NG" "DNA" "" "" "0000277498" "00276353" "1" "01164" "01164" "2020-01-31 15:58:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000292143" "00290975" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292144" "00290976" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305088" "00303959" "1" "01807" "01807" "2020-06-22 08:42:01" "" "" "SEQ" "DNA" "" "" "0000316226" "00315050" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000321335" "00320150" "1" "01807" "01807" "2020-11-23 17:38:08" "" "" "SEQ" "DNA" "" "" "0000328152" "00326939" "1" "00006" "00006" "2021-01-17 12:31:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328153" "00326940" "1" "00006" "00006" "2021-01-17 12:31:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328154" "00326941" "1" "00006" "00006" "2021-01-17 12:31:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413725" "00412455" "1" "00006" "00006" "2022-06-29 09:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000415981" "00414700" "1" "01164" "01164" "2022-08-01 12:59:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000416499" "00415217" "1" "01164" "01164" "2022-08-10 11:53:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000429412" "00427999" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000434427" "00432983" "1" "01164" "01164" "2023-02-27 16:50:38" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000435117" "00433659" "1" "03544" "03544" "2023-03-12 19:07:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000439867" "00438385" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441853" "00440368" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451406" "00449811" "1" "03544" "03544" "2024-05-16 06:58:53" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000451466" "00449870" "1" "04653" "04653" "2024-05-21 16:48:37" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000451860" "00450264" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451861" "00450265" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451862" "00450266" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451863" "00450267" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451864" "00450268" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451865" "00450269" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451866" "00450270" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451867" "00450271" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451868" "00450272" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451869" "00450273" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451870" "00450274" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451871" "00450275" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000453668" "00452066" "1" "03544" "03544" "2024-07-09 14:28:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000454899" "00453288" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454900" "00453289" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454901" "00453290" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454902" "00453291" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454903" "00453292" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454904" "00453293" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454905" "00453294" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454906" "00453295" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454907" "00453296" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454908" "00453297" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454909" "00453298" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454910" "00453299" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454911" "00453300" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454912" "00453301" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454913" "00453302" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454914" "00453303" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454915" "00453304" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000454916" "00453305" "1" "00006" "00006" "2024-08-17 11:41:57" "" "" "SEQ" "DNA" "" "" "0000456436" "00454825" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "gene panel" "0000456770" "00455157" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" "0000456771" "00455158" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" "0000456772" "00455159" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" "0000457480" "00455864" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000465938" "00464294" "1" "04409" "04409" "2025-03-03 02:16:31" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" "0000468082" "00466419" "1" "03544" "03544" "2025-08-29 09:57:53" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000468545" "00466882" "1" "04903" "04903" "2025-10-01 12:51:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000468546" "00466883" "1" "04903" "04903" "2025-10-01 13:04:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000468547" "00466884" "1" "04903" "04903" "2025-10-01 13:07:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000469408" "00467742" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472993" "00471323" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" "0000472994" "00471324" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000050565" "CHD8" "0000111859" "CHD8" "0000168987" "CHD8" "0000277498" "CHD8" "0000316226" "CHD8" "0000328152" "CDH8" "0000328153" "CDH8" "0000328154" "CDH8" "0000415981" "CHD8" "0000416499" "CHD8" "0000434427" "CHD8" "0000454899" "CHD8" "0000454900" "CHD8" "0000454901" "CHD8" "0000454902" "CHD8" "0000454903" "CHD8" "0000454904" "CHD8" "0000454905" "CHD8" "0000454906" "CHD8" "0000454907" "CHD8" "0000454908" "CHD8" "0000454909" "CHD8" "0000454910" "CHD8" "0000454911" "CHD8" "0000454912" "CHD8" "0000454913" "CHD8" "0000454914" "CHD8" "0000454915" "CHD8" "0000454916" "CHD8" "0000465938" "CHD8" "0000468545" "CHD8" "0000468546" "CHD8" "0000468547" "CHD8" ## 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 = 214 "{{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}}" "0000079545" "11" "90" "14" "21871618" "21871618" "subst" "0" "00006" "CHD8_000001" "g.21871618T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.21403459T>G" "" "pathogenic" "" "0000179017" "0" "90" "14" "21897154" "21897154" "del" "0" "00729" "CHD8_000002" "g.21897154del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.21428995del" "" "pathogenic" "ACMG" "0000237906" "0" "90" "14" "21867811" "21867811" "subst" "0" "01807" "CHD8_000003" "g.21867811C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21399652C>T" "" "pathogenic" "" "0000241260" "0" "70" "14" "21862547" "21862547" "subst" "0" "02357" "CHD8_000019" "g.21862547G>A" "" "{PMID:Han 2018:30631761}" "" "" "" "De novo" "" "" "0" "" "" "g.21394388G>A" "" "likely pathogenic" "" "0000253610" "0" "10" "14" "21860866" "21860866" "subst" "0.00100717" "01943" "CHD8_000004" "g.21860866A>G" "" "" "" "CHD8(NM_001170629.1):c.6571T>C (p.L2191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21392707A>G" "" "benign" "" "0000270148" "0" "90" "14" "21871328" "21871328" "subst" "0" "02326" "CHD8_000016" "g.21871328G>A" "" "" "" "CHD8(NM_001170629.2):c.3562C>T (p.R1188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21403169G>A" "" "pathogenic" "" "0000273517" "0" "30" "14" "21883727" "21883727" "subst" "2.73763E-5" "01943" "CHD8_000017" "g.21883727C>T" "" "" "" "CHD8(NM_001170629.1):c.1968+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21415568C>T" "" "likely benign" "" "0000273518" "0" "10" "14" "21861722" "21861722" "subst" "0.000764861" "01943" "CHD8_000011" "g.21861722G>A" "" "" "" "CHD8(NM_001170629.1):c.6232C>T (p.L2078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21393563G>A" "" "benign" "" "0000273519" "0" "50" "14" "21854087" "21854087" "subst" "0.000211987" "01943" "CHD8_000009" "g.21854087C>T" "" "" "" "CHD8(NM_001170629.1):c.7431G>A (p.M2477I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21385928C>T" "" "VUS" "" "0000273520" "0" "30" "14" "21854019" "21854019" "subst" "0" "01943" "CHD8_000008" "g.21854019T>G" "" "" "" "CHD8(NM_001170629.1):c.7499A>C (p.H2500P, p.(His2500Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21385860T>G" "" "likely benign" "" "0000323569" "0" "50" "14" "21863230" "21863230" "subst" "0" "01804" "CHD8_000031" "g.21863230G>A" "" "" "" "CHD8(NM_001170629.1):c.5231C>T (p.(Ala1744Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21395071G>A" "" "VUS" "" "0000337514" "0" "50" "14" "21867756" "21867756" "subst" "0.000337915" "02327" "CHD8_000014" "g.21867756C>T" "" "" "" "CHD8(NM_001170629.2):c.4921+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21399597C>T" "" "VUS" "" "0000341106" "0" "70" "14" "21873449" "21873449" "subst" "0" "02327" "CHD8_000006" "g.21873449C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21405290C>A" "" "likely pathogenic" "" "0000341172" "0" "70" "14" "21863457" "21863457" "subst" "0" "02327" "CHD8_000013" "g.21863457C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21395298C>G" "" "likely pathogenic" "" "0000351041" "0" "50" "14" "21870111" "21870111" "subst" "0" "02327" "CHD8_000005" "g.21870111C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21401952C>G" "" "VUS" "" "0000351042" "0" "70" "14" "21875193" "21875193" "subst" "0" "02327" "CHD8_000007" "g.21875193T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21407034T>C" "" "likely pathogenic" "" "0000379125" "0" "90" "14" "21862588" "21862588" "dup" "0" "02537" "CHD8_000018" "g.21862588dup" "" "{PMID:Du 2018:30555518}" "" "4611dupA (Val1538fs)" "" "De novo" "" "" "0" "" "" "g.21394429dup" "" "pathogenic" "" "0000551526" "0" "30" "14" "21853843" "21853843" "subst" "5.89337E-5" "01804" "CHD8_000020" "g.21853843T>C" "" "" "" "CHD8(NM_001170629.1):c.7675A>G (p.(Arg2559Gly)), CHD8(NM_001170629.2):c.7675A>G (p.R2559G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385684T>C" "" "likely benign" "" "0000551527" "0" "30" "14" "21854013" "21854013" "subst" "0" "01804" "CHD8_000021" "g.21854013T>G" "" "" "" "CHD8(NM_001170629.1):c.7505A>C (p.(His2502Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385854T>G" "" "likely benign" "" "0000551528" "0" "30" "14" "21854019" "21854019" "subst" "0" "01804" "CHD8_000008" "g.21854019T>G" "" "" "" "CHD8(NM_001170629.1):c.7499A>C (p.H2500P, p.(His2500Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385860T>G" "" "likely benign" "" "0000551529" "0" "30" "14" "21854206" "21854206" "subst" "0" "01804" "CHD8_000022" "g.21854206T>G" "" "" "" "CHD8(NM_001170629.1):c.7312A>C (p.(Thr2438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21386047T>G" "" "likely benign" "" "0000551530" "0" "30" "14" "21854315" "21854315" "subst" "0.000288839" "02326" "CHD8_000023" "g.21854315C>T" "" "" "" "CHD8(NM_001170629.2):c.7203G>A (p.V2401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21386156C>T" "" "likely benign" "" "0000551531" "0" "30" "14" "21859640" "21859640" "subst" "8.14226E-6" "01943" "CHD8_000024" "g.21859640A>T" "" "" "" "CHD8(NM_001170629.1):c.7047T>A (p.V2349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21391481A>T" "" "likely benign" "" "0000551532" "0" "30" "14" "21859756" "21859756" "subst" "2.88054E-5" "01943" "CHD8_000025" "g.21859756G>A" "" "" "" "CHD8(NM_001170629.1):c.6931C>T (p.L2311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21391597G>A" "" "likely benign" "" "0000551533" "0" "90" "14" "21860788" "21860788" "subst" "0" "02325" "CHD8_000026" "g.21860788G>A" "" "" "" "CHD8(NM_001170629.1):c.6649C>T (p.R2217*), CHD8(NM_001170629.2):c.6649C>T (p.R2217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21392629G>A" "" "pathogenic" "" "0000551534" "0" "50" "14" "21861341" "21861341" "subst" "4.0622E-6" "02327" "CHD8_000027" "g.21861341G>A" "" "" "" "CHD8(NM_001170629.2):c.6392C>T (p.P2131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393182G>A" "" "VUS" "" "0000551535" "0" "10" "14" "21861835" "21861835" "subst" "0.00174305" "01943" "CHD8_000028" "g.21861835T>C" "" "" "" "CHD8(NM_001170629.1):c.6119A>G (p.D2040G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393676T>C" "" "benign" "" "0000551536" "0" "30" "14" "21861900" "21861900" "subst" "0.000288731" "01943" "CHD8_000029" "g.21861900A>G" "" "" "" "CHD8(NM_001170629.1):c.6054T>C (p.S2018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393741A>G" "" "likely benign" "" "0000551537" "0" "50" "14" "21862429" "21862429" "subst" "8.12592E-6" "01804" "CHD8_000030" "g.21862429T>G" "" "" "" "CHD8(NM_001170629.1):c.5599+7A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21394270T>G" "" "VUS" "" "0000551538" "0" "90" "14" "21866016" "21866016" "subst" "0" "02325" "CHD8_000032" "g.21866016G>A" "" "" "" "CHD8(NM_001170629.2):c.5017C>T (p.R1673*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21397857G>A" "" "pathogenic" "" "0000551539" "0" "70" "14" "21868137" "21868137" "subst" "0" "02327" "CHD8_000033" "g.21868137T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21399978T>A" "" "likely pathogenic" "" "0000551540" "0" "50" "14" "21868689" "21868689" "subst" "0" "02329" "CHD8_000034" "g.21868689C>A" "" "" "" "CHD8(NM_001170629.2):c.4453G>T (p.A1485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21400530C>A" "" "VUS" "" "0000551542" "0" "70" "14" "21868728" "21868728" "subst" "0" "02327" "CHD8_000036" "g.21868728G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21400569G>A" "" "likely pathogenic" "" "0000551543" "0" "30" "14" "21869159" "21869159" "subst" "0" "01943" "CHD8_000037" "g.21869159G>A" "" "" "" "CHD8(NM_001170629.1):c.4245C>T (p.D1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21401000G>A" "" "likely benign" "" "0000551544" "0" "70" "14" "21871328" "21871328" "subst" "0" "02327" "CHD8_000016" "g.21871328G>A" "" "" "" "CHD8(NM_001170629.2):c.3562C>T (p.R1188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21403169G>A" "" "likely pathogenic" "" "0000551545" "0" "70" "14" "21873881" "21873881" "del" "0" "01804" "CHD8_000038" "g.21873881del" "" "" "" "CHD8(NM_001170629.1):c.3050del (p.(Gln1017ArgfsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21405722del" "" "likely pathogenic" "" "0000551546" "0" "50" "14" "21876584" "21876584" "subst" "0" "01804" "CHD8_000039" "g.21876584T>C" "" "" "" "CHD8(NM_001170629.1):c.2617A>G (p.(Asn873Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21408425T>C" "" "VUS" "" "0000551547" "0" "30" "14" "21878074" "21878074" "subst" "4.06385E-6" "02327" "CHD8_000040" "g.21878074A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21409915A>G" "" "likely benign" "" "0000551548" "0" "70" "14" "21882462" "21882462" "subst" "0" "01804" "CHD8_000041" "g.21882462C>A" "" "" "" "CHD8(NM_001170629.1):c.2140G>T (p.(Glu714Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21414303C>A" "" "likely pathogenic" "" "0000551549" "0" "30" "14" "21897247" "21897247" "subst" "8.12301E-6" "01943" "CHD8_000042" "g.21897247G>C" "" "" "" "CHD8(NM_001170629.1):c.1091C>G (p.P364R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21429088G>C" "" "likely benign" "" "0000551551" "0" "30" "14" "21899347" "21899347" "subst" "0.00242779" "01943" "CHD8_000044" "g.21899347T>C" "" "" "" "CHD8(NM_001170629.1):c.456A>G (p.P152=), CHD8(NM_001170629.2):c.456A>G (p.(Pro152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21431188T>C" "" "likely benign" "" "0000614770" "0" "50" "14" "21871667" "21871669" "del" "0" "01804" "CHD8_000047" "g.21871667_21871669del" "" "" "" "CHD8(NM_001170629.1):c.3464_3466del (p.(Phe1155del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21403508_21403510del" "" "VUS" "" "0000614771" "0" "70" "14" "21873981" "21873981" "del" "0" "02327" "CHD8_000048" "g.21873981del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21405822del" "" "likely pathogenic" "" "0000614772" "0" "90" "14" "21875118" "21875121" "del" "0" "01943" "CHD8_000049" "g.21875118_21875121del" "" "" "" "CHD8(NM_001170629.1):c.2801_2804delGTCC (p.C934Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21406959_21406962del" "" "pathogenic" "" "0000614773" "0" "50" "14" "21896022" "21896022" "subst" "0" "01804" "CHD8_000050" "g.21896022A>T" "" "" "" "CHD8(NM_001170629.1):c.1601+6T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21427863A>T" "" "VUS" "" "0000632615" "0" "50" "14" "21863126" "21863126" "subst" "0" "01164" "CHD8_000051" "g.21863126G>A" "" "" "" "" "ACMG PM2, PP3" "Germline" "?" "" "0" "" "" "g.21394967G>A" "" "VUS" "ACMG" "0000648832" "1" "10" "14" "21866026" "21866026" "subst" "0.0206147" "03575" "CHD8_000052" "g.21866026T>C" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous, no homozygous; {DB:CLININrs61752837}" "Germline" "" "rs61752837" "0" "" "" "g.21397867T>C" "" "benign" "" "0000648833" "1" "30" "14" "21897467" "21897467" "subst" "0.00110823" "03575" "CHD8_000053" "g.21897467G>A" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs192989929}" "Germline" "" "rs192989929" "0" "" "" "g.21429308G>A" "" "likely benign" "" "0000657369" "0" "50" "14" "21854007" "21854015" "del" "0" "01943" "CHD8_000054" "g.21854007_21854015del" "" "" "" "CHD8(NM_001170629.1):c.7515_7523delCCATCACCA (p.H2506_H2508del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385848_21385856del" "" "VUS" "" "0000657370" "0" "90" "14" "21862155" "21862158" "dup" "0" "02329" "CHD8_000055" "g.21862155_21862158dup" "" "" "" "CHD8(NM_001170629.2):c.5796_5799dupGCTT (p.L1934Afs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393996_21393999dup" "" "pathogenic" "" "0000657371" "0" "50" "14" "21896314" "21896314" "subst" "2.03136E-5" "01943" "CHD8_000056" "g.21896314G>A" "" "" "" "CHD8(NM_001170629.1):c.1315C>T (p.H439Y, p.(His439Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21428155G>A" "" "VUS" "" "0000657372" "0" "50" "14" "21897128" "21897128" "subst" "0" "02327" "CHD8_000057" "g.21897128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21428969G>A" "" "VUS" "" "0000657373" "0" "50" "14" "21899088" "21899088" "subst" "0" "02325" "CHD8_000058" "g.21899088C>T" "" "" "" "CHD8(NM_001170629.2):c.715G>A (p.V239I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21430929C>T" "" "VUS" "" "0000668651" "0" "90" "14" "21863072" "21863072" "subst" "0" "01807" "CHD8_000059" "g.21863072G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.21394913G>A" "" "pathogenic" "" "0000679902" "0" "30" "14" "21860737" "21860737" "subst" "0" "01943" "CHD8_000060" "g.21860737T>C" "" "" "" "CHD8(NM_001170629.1):c.6700A>G (p.T2234A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21392578T>C" "" "likely benign" "" "0000679903" "0" "50" "14" "21871726" "21871726" "subst" "0" "01943" "CHD8_000061" "g.21871726A>C" "" "" "" "CHD8(NM_001170629.1):c.3404T>G (p.L1135R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21403567A>C" "" "VUS" "" "0000679904" "0" "70" "14" "21878122" "21878122" "subst" "0" "02325" "CHD8_000062" "g.21878122C>A" "" "" "" "CHD8(NM_001170629.2):c.2252G>T (p.W751L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21409963C>A" "" "likely pathogenic" "" "0000679905" "0" "30" "14" "21883089" "21883089" "subst" "0" "01804" "CHD8_000063" "g.21883089T>A" "" "" "" "CHD8(NM_001170629.1):c.2024+8A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21414930T>A" "" "likely benign" "" "0000691607" "0" "90" "14" "21860788" "21860788" "subst" "0" "01943" "CHD8_000026" "g.21860788G>A" "" "" "" "CHD8(NM_001170629.1):c.6649C>T (p.R2217*), CHD8(NM_001170629.2):c.6649C>T (p.R2217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21392629G>A" "" "pathogenic" "" "0000691608" "0" "90" "14" "21862062" "21862062" "subst" "0" "01943" "CHD8_000064" "g.21862062A>C" "" "" "" "CHD8(NM_001170629.1):c.5892T>G (p.Y1964*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393903A>C" "" "pathogenic" "" "0000691609" "0" "50" "14" "21899417" "21899417" "subst" "0" "01943" "CHD8_000065" "g.21899417A>G" "" "" "" "CHD8(NM_001170629.1):c.386T>C (p.L129P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21431258A>G" "" "VUS" "" "0000698376" "0" "50" "14" "21869188" "21869188" "subst" "8.15721E-6" "00006" "CHD8_000066" "g.21869188G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21401029G>A" "" "VUS" "ACMG" "0000704164" "0" "90" "14" "21871253" "21871253" "del" "0" "01807" "CHD8_000067" "g.21871253del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.21403094del" "" "pathogenic" "" "0000712076" "0" "90" "14" "21868728" "21868728" "subst" "0" "00006" "CHD8_000036" "g.21868728G>A" "" "{PMID:Sadler 2021:33352116}" "" "NM_001170629.1:c.4414C>T" "" "De novo" "" "" "0" "" "" "g.21400569G>A" "" "pathogenic (dominant)" "" "0000712077" "0" "90" "14" "21875014" "21875014" "subst" "0" "00006" "CHD8_000068" "g.21875014C>A" "" "{PMID:Sadler 2021:33352116}" "" "NM_001170629.1:c.2070+1G>T" "" "De novo" "" "" "0" "" "" "g.21406855C>A" "" "pathogenic (dominant)" "" "0000712078" "0" "90" "14" "21868628" "21868628" "subst" "0" "00006" "CHD8_000069" "g.21868628C>T" "" "{PMID:Sadler 2021:33352116}" "" "NM_001170629.2:c.4515G>A" "variant description corrected based on Fig.2" "De novo" "" "" "0" "" "" "g.21400469C>T" "" "pathogenic (dominant)" "" "0000724672" "0" "90" "14" "21862010" "21862014" "del" "0" "02329" "CHD8_000070" "g.21862010_21862014del" "" "" "" "CHD8(NM_001170629.2):c.5943_5947delTACTC (p.P1983Afs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393851_21393855del" "" "pathogenic" "" "0000724673" "0" "30" "14" "21868476" "21868476" "subst" "0.000219884" "01943" "CHD8_000071" "g.21868476G>T" "" "" "" "CHD8(NM_001170629.1):c.4571-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21400317G>T" "" "likely benign" "" "0000724674" "0" "90" "14" "21869200" "21869200" "subst" "4.09843E-6" "02329" "CHD8_000046" "g.21869200G>A" "" "" "" "CHD8(NM_001170629.2):c.4204C>T (p.R1402*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21401041G>A" "" "pathogenic" "" "0000724675" "0" "50" "14" "21870169" "21870169" "subst" "0" "02329" "CHD8_000015" "g.21870169G>A" "" "" "" "CHD8(NM_001170629.1):c.4009C>T (p.(Arg1337*)), CHD8(NM_001170629.2):c.4009C>T (p.R1337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21402010G>A" "" "VUS" "" "0000724676" "0" "50" "14" "21878056" "21878056" "subst" "0.000158493" "01943" "CHD8_000072" "g.21878056C>T" "" "" "" "CHD8(NM_001170629.1):c.2318G>A (p.R773Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21409897C>T" "" "VUS" "" "0000724677" "0" "50" "14" "21883113" "21883113" "subst" "0" "02327" "CHD8_000073" "g.21883113C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21414954C>G" "" "VUS" "" "0000806294" "0" "90" "14" "21860798" "21860798" "del" "0" "02329" "CHD8_000074" "g.21860798del" "" "" "" "CHD8(NM_001170629.2):c.6642delC (p.T2215Hfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21392639del" "" "pathogenic" "" "0000806295" "0" "90" "14" "21861684" "21861684" "del" "0" "01943" "CHD8_000075" "g.21861684del" "" "" "" "CHD8(NM_001170629.1):c.6270delC (p.S2091Pfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21393525del" "" "pathogenic" "" "0000806296" "0" "90" "14" "21894365" "21894365" "dup" "0" "01943" "CHD8_000076" "g.21894365dup" "" "" "" "CHD8(NM_001170629.1):c.1638dupT (p.N547*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21426206dup" "" "pathogenic" "" "0000806297" "0" "30" "14" "21896333" "21896333" "subst" "1.21865E-5" "01943" "CHD8_000077" "g.21896333T>C" "" "" "" "CHD8(NM_001170629.1):c.1296A>G (p.S432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21428174T>C" "" "likely benign" "" "0000806298" "0" "50" "14" "21897356" "21897356" "subst" "0" "02325" "CHD8_000078" "g.21897356T>C" "" "" "" "CHD8(NM_001170629.2):c.982A>G (p.K328E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21429197T>C" "" "VUS" "" "0000853736" "0" "90" "14" "21871262" "21871262" "subst" "4.06468E-6" "02329" "CHD8_000083" "g.21871262G>A" "" "" "" "CHD8(NM_001170629.2):c.3628C>T (p.R1210W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21403103G>A" "" "pathogenic" "" "0000863489" "0" "30" "14" "21853843" "21853843" "subst" "5.89337E-5" "02325" "CHD8_000020" "g.21853843T>C" "" "" "" "CHD8(NM_001170629.1):c.7675A>G (p.(Arg2559Gly)), CHD8(NM_001170629.2):c.7675A>G (p.R2559G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385684T>C" "" "likely benign" "" "0000863490" "0" "30" "14" "21853853" "21853853" "subst" "0.0162915" "01804" "CHD8_000079" "g.21853853A>G" "" "" "" "CHD8(NM_001170629.1):c.7665T>C (p.(Asp2555=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385694A>G" "" "likely benign" "" "0000863491" "0" "50" "14" "21860965" "21860965" "subst" "1.63268E-5" "01943" "CHD8_000080" "g.21860965G>A" "" "" "" "CHD8(NM_001170629.1):c.6472C>T (p.R2158C), CHD8(NM_001170629.2):c.6472C>T (p.R2158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21392806G>A" "" "VUS" "" "0000863492" "0" "70" "14" "21863510" "21863510" "subst" "0" "02327" "CHD8_000081" "g.21863510C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21395351C>A" "" "likely pathogenic" "" "0000863493" "0" "30" "14" "21866026" "21866026" "subst" "0.0206147" "01804" "CHD8_000052" "g.21866026T>C" "" "" "" "CHD8(NM_001170629.1):c.5007A>G (p.(Ala1669=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21397867T>C" "" "likely benign" "" "0000863494" "0" "70" "14" "21870169" "21870169" "subst" "0" "01804" "CHD8_000015" "g.21870169G>A" "" "" "" "CHD8(NM_001170629.1):c.4009C>T (p.(Arg1337*)), CHD8(NM_001170629.2):c.4009C>T (p.R1337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21402010G>A" "" "likely pathogenic" "" "0000863495" "0" "70" "14" "21870494" "21870494" "subst" "0" "01804" "CHD8_000082" "g.21870494C>T" "" "" "" "CHD8(NM_001170629.1):c.3882+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21402335C>T" "" "likely pathogenic" "" "0000863496" "0" "50" "14" "21878057" "21878057" "subst" "4.06484E-6" "01943" "CHD8_000084" "g.21878057G>C" "" "" "" "CHD8(NM_001170629.1):c.2317C>G (p.R773G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21409898G>C" "" "VUS" "" "0000863497" "0" "30" "14" "21896192" "21896192" "subst" "0.00893858" "01804" "CHD8_000085" "g.21896192G>A" "" "" "" "CHD8(NM_001170629.1):c.1437C>T (p.(Asn479=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21428033G>A" "" "likely benign" "" "0000863498" "0" "30" "14" "21899776" "21899776" "subst" "0.0050521" "01804" "CHD8_000086" "g.21899776G>A" "" "" "" "CHD8(NM_001170629.1):c.27C>T (p.(Phe9=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21431617G>A" "" "likely benign" "" "0000871256" "0" "90" "14" "21871790" "21871790" "subst" "0" "00006" "CHD8_000087" "g.21871790C>A" "" "{PMID:Velmans 2012:34321323}" "" "NM_001170629.1:c.3340G>T" "" "De novo" "" "" "0" "" "" "g.21403631C>A" "" "pathogenic" "" "0000873887" "0" "90" "14" "21878053" "21878071" "delins" "0" "01164" "CHD8_000088" "g.21878053_21878071delinsCTGGCCAAGCACTGGGCC" "" "ACMG: PVS1, PS2_MOD, PM2_SUP" "" "NM_020920.3:c.1466_1485delinsGGCCCAGTGCTTGGCCAGA" "" "De novo" "?" "" "0" "" "" "g.21409894_21409912delinsCTGGCCAAGCACTGGGCC" "" "pathogenic (dominant)" "ACMG" "0000874618" "0" "50" "14" "21883879" "21883879" "subst" "0" "01164" "CHD8_000089" "g.21883879C>T" "" "" "" "" "ACMG PM2_SUP, PP3" "Germline" "?" "" "0" "" "" "g.21415720C>T" "VCV000489147.2" "VUS" "ACMG" "0000891678" "0" "90" "14" "21861779" "21861779" "del" "0" "02326" "CHD8_000090" "g.21861779del" "" "" "" "CHD8(NM_001170629.2):c.6176delC (p.P2059Hfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891679" "0" "90" "14" "21868764" "21868764" "subst" "0" "02329" "CHD8_000091" "g.21868764G>A" "" "" "" "CHD8(NM_001170629.2):c.4378C>T (p.R1460*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891680" "0" "70" "14" "21870623" "21870623" "subst" "0" "02327" "CHD8_000092" "g.21870623C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891681" "0" "50" "14" "21878008" "21878008" "subst" "2.44248E-5" "02325" "CHD8_000093" "g.21878008A>G" "" "" "" "CHD8(NM_001170629.2):c.2364+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891682" "0" "90" "14" "21899748" "21899749" "del" "0" "02325" "CHD8_000094" "g.21899748_21899749del" "" "" "" "CHD8(NM_001170629.2):c.58_59delCT (p.L20Dfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908885" "0" "90" "14" "21871823" "21871823" "subst" "0" "00006" "CHD8_000095" "g.21871823C>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice acceptor" "De novo" "" "" "0" "" "" "g.21403664C>G" "" "pathogenic (dominant)" "" "0000914150" "0" "90" "14" "21868157" "21868157" "del" "0" "02329" "CHD8_000096" "g.21868157del" "" "" "" "CHD8(NM_001170629.2):c.4800delA (p.G1602Vfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914151" "0" "50" "14" "21882491" "21882491" "subst" "0" "02327" "CHD8_000097" "g.21882491T>C" "" "" "" "CHD8(NM_001170629.2):c.2111A>G (p.K704R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914152" "0" "50" "14" "21899093" "21899093" "subst" "8.632E-6" "02327" "CHD8_000098" "g.21899093C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920180" "0" "50" "14" "21868340" "21868340" "subst" "0" "01164" "CHD8_000099" "g.21868340T>C" "" "" "" "" "ACMG: PP3_MOD, PS2_SUP, PM2_SUP, PP2; confirmed de novo in trio-exome" "Germline" "-" "" "" "" "" "" "" "VUS" "ACMG" "0000921054" "0" "90" "14" "21897216" "21897217" "del" "0" "03544" "CHD8_000100" "g.21897216_21897217del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.21429057_21429058del" "" "pathogenic (dominant)" "ACMG" "0000925838" "0" "50" "14" "21876865" "21876865" "subst" "0" "02327" "CHD8_000101" "g.21876865G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930272" "0" "30" "14" "21868646" "21868646" "subst" "0" "02327" "CHD8_000102" "g.21868646T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930273" "0" "50" "14" "21882491" "21882491" "subst" "0" "02325" "CHD8_000097" "g.21882491T>C" "" "" "" "CHD8(NM_001170629.2):c.2111A>G (p.K704R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930274" "0" "70" "14" "21897440" "21897440" "subst" "0" "02329" "CHD8_000103" "g.21897440G>A" "" "" "" "CHD8(NM_001170629.2):c.898C>T (p.Q300*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931677" "0" "50" "14" "21863147" "21863147" "subst" "0" "03779" "CHD8_000104" "g.21863147G>A" "" "" "" "" "" "Unknown" "" "rs1286064384" "0" "" "" "" "" "VUS" "" "0000935186" "0" "50" "14" "21899735" "21899735" "subst" "0" "03779" "CHD8_000105" "g.21899735T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000935996" "0" "70" "14" "21863186" "21863186" "subst" "0" "00006" "CHD8_000106" "g.21863186T>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.21395027T>G" "" "likely pathogenic (dominant)" "ACMG" "0000939795" "0" "70" "14" "21862495" "21862504" "del" "0" "00006" "CHD8_000107" "g.21862495_21862504del" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.21394336_21394345del" "" "likely pathogenic (dominant)" "" "0000950213" "0" "90" "14" "21873910" "21873910" "del" "0" "02329" "CHD8_000108" "g.21873910del" "" "" "" "CHD8(NM_001170629.2):c.3022delG (p.D1008Tfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950214" "0" "30" "14" "21897467" "21897467" "subst" "0.00110823" "02325" "CHD8_000053" "g.21897467G>A" "" "" "" "CHD8(NM_001170629.1):c.871C>T (p.(Leu291Phe)), CHD8(NM_001170629.2):c.871C>T (p.L291F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967435" "0" "50" "14" "21861341" "21861341" "subst" "4.0622E-6" "02325" "CHD8_000027" "g.21861341G>A" "" "" "" "CHD8(NM_001170629.2):c.6392C>T (p.P2131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967436" "0" "30" "14" "21865982" "21865982" "subst" "0" "02327" "CHD8_000109" "g.21865982C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980807" "0" "30" "14" "21853886" "21853888" "del" "0" "01804" "SUPT16H_000009" "g.21853886_21853888del" "" "" "" "CHD8(NM_001170629.2):c.7635_7637del (p.(Glu2545del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980808" "0" "30" "14" "21854221" "21854221" "subst" "3.40759E-5" "01804" "SUPT16H_000010" "g.21854221T>C" "" "" "" "CHD8(NM_001170629.2):c.7297A>G (p.(Met2433Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980809" "0" "50" "14" "21859662" "21859662" "subst" "0" "01804" "CHD8_000110" "g.21859662T>C" "" "" "" "CHD8(NM_001170629.2):c.7025A>G (p.(Gln2342Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980810" "0" "50" "14" "21859784" "21859784" "subst" "0" "01804" "CHD8_000111" "g.21859784C>G" "" "" "" "CHD8(NM_001170629.2):c.6903G>C (p.(Met2301Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980811" "0" "30" "14" "21862309" "21862309" "subst" "4.11242E-6" "01804" "CHD8_000112" "g.21862309C>T" "" "" "" "CHD8(NM_001170629.2):c.5645G>A (p.(Arg1882Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980812" "0" "50" "14" "21862333" "21862333" "subst" "0" "01804" "CHD8_000113" "g.21862333A>G" "" "" "" "CHD8(NM_001170629.2):c.5621T>C (p.(Phe1874Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980813" "0" "50" "14" "21863496" "21863496" "subst" "0" "01804" "CHD8_000114" "g.21863496T>A" "" "" "" "CHD8(NM_001170629.2):c.5143A>T (p.(Met1715Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980814" "0" "30" "14" "21868413" "21868413" "subst" "0" "01804" "CHD8_000115" "g.21868413T>C" "" "" "" "CHD8(NM_001170629.2):c.4624A>G (p.(Ser1542Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980815" "0" "30" "14" "21897172" "21897172" "subst" "8.12361E-6" "01804" "CHD8_000116" "g.21897172C>T" "" "" "" "CHD8(NM_001170629.2):c.1166G>A (p.(Ser389Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985277" "0" "70" "14" "21883732" "21883732" "subst" "0" "03544" "CHD8_000117" "g.21883732C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.21415573C>T" "{CV:3895540}" "likely pathogenic" "ACMG" "0000985366" "0" "70" "14" "21870184" "21870184" "subst" "0" "04653" "CHD8_000118" "g.21870184G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "g.21402025G>A" "" "pathogenic (dominant)" "ACMG" "0000985777" "0" "90" "14" "21883092" "21883092" "subst" "0" "00006" "CHD8_000126" "g.21883092C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.21414933C>T" "" "pathogenic (dominant)" "" "0000985778" "0" "90" "14" "21871611" "21871611" "subst" "0" "00006" "CHD8_000125" "g.21871611C>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.21403452C>A" "" "pathogenic (dominant)" "" "0000985779" "0" "90" "14" "21899336" "21899336" "del" "0" "00006" "CHD8_000128" "g.21899336del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "470delC" "" "De novo" "" "" "0" "" "" "g.21431177del" "" "pathogenic (dominant)" "" "0000985780" "0" "90" "14" "21854007" "21854007" "dup" "0" "00006" "CHD8_000119" "g.21854007dup" "" "{PMID:Tatton-Brown 2017:28475857}" "" "7511dupA" "" "De novo" "" "" "0" "" "" "g.21385848dup" "" "pathogenic (dominant)" "" "0000985781" "0" "90" "14" "21868728" "21868728" "subst" "0" "00006" "CHD8_000036" "g.21868728G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.21400569G>A" "" "pathogenic (dominant)" "" "0000985782" "21" "90" "14" "21894313" "21894313" "subst" "0" "00006" "CHD8_000127" "g.21894313G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline" "" "" "0" "" "" "g.21426154G>A" "" "pathogenic (dominant)" "" "0000985783" "21" "90" "14" "21860851" "21860869" "del" "0" "00006" "CHD8_000120" "g.21860851_21860869del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "6569_6587del19" "" "Germline" "" "" "0" "" "" "g.21392692_21392710del" "" "pathogenic (dominant)" "" "0000985784" "0" "90" "14" "21862535" "21862535" "subst" "0" "00006" "CHD8_000122" "g.21862535G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21394376G>A" "" "pathogenic (dominant)" "" "0000985785" "0" "90" "14" "21865981" "21865981" "subst" "0" "00006" "CHD8_000123" "g.21865981C>G" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21397822C>G" "" "pathogenic (dominant)" "" "0000985786" "0" "90" "14" "21861839" "21861839" "del" "0" "00006" "CHD8_000121" "g.21861839del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "6115delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21393680del" "" "pathogenic (dominant)" "" "0000985787" "0" "90" "14" "21869037" "21869037" "subst" "0" "00006" "CHD8_000124" "g.21869037T>C" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21400878T>C" "" "pathogenic (dominant)" "" "0000985788" "0" "90" "14" "21869200" "21869200" "subst" "4.09843E-6" "00006" "CHD8_000046" "g.21869200G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21401041G>A" "" "pathogenic (dominant)" "" "0000988416" "0" "70" "14" "21862613" "21862613" "subst" "0" "03544" "CHD8_000129" "g.21862613G>A" "" "" "" "" "inherited from affected mother (macrocephaly, schizophrenia)" "Germline" "yes" "rs1555313519" "0" "" "" "g.21394454G>A" "{CV:3254731}" "likely pathogenic" "ACMG" "0000989837" "11" "50" "14" "21897482" "21897482" "subst" "2.07149E-5" "00006" "CHD8_000141" "g.21897482G>A" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.19C>T" "" "Germline" "" "" "0" "" "" "g.21429323G>A" "" "VUS" "" "0000989838" "21" "30" "14" "21868146" "21868146" "subst" "4.07368E-6" "00006" "CHD8_000138" "g.21868146A>G" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.3974T>C" "" "Germline" "" "" "0" "" "" "g.21399987A>G" "" "likely benign" "" "0000989839" "0" "30" "14" "21861869" "21861869" "subst" "0.0008132" "00006" "CHD8_000136" "g.21861869C>T" "3/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.5248G>A" "" "Germline" "" "rs145300090" "0" "" "" "g.21393710C>T" "" "likely benign" "" "0000989840" "0" "30" "14" "21861869" "21861869" "subst" "0.0008132" "00006" "CHD8_000136" "g.21861869C>T" "3/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.5248G>A" "" "Germline" "" "rs145300090" "0" "" "" "g.21393710C>T" "" "likely benign" "" "0000989841" "0" "30" "14" "21861869" "21861869" "subst" "0.0008132" "00006" "CHD8_000136" "g.21861869C>T" "3/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.5248G>A" "" "Germline" "" "rs145300090" "0" "" "" "g.21393710C>T" "" "likely benign" "" "0000989842" "21" "50" "14" "21860965" "21860965" "subst" "1.63268E-5" "00006" "CHD8_000080" "g.21860965G>A" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.5635C>T" "" "Germline" "" "" "0" "" "" "g.21392806G>A" "" "VUS" "" "0000989843" "0" "50" "14" "21860899" "21860899" "subst" "2.03097E-5" "00006" "CHD8_000134" "g.21860899G>A" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.5701C>T" "" "Germline" "" "" "0" "" "" "g.21392740G>A" "" "VUS" "" "0000989844" "0" "50" "14" "21860047" "21860047" "subst" "4.062E-6" "00006" "CHD8_000132" "g.21860047C>G" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.5993G>C" "" "Germline" "" "" "0" "" "" "g.21391888C>G" "" "VUS" "" "0000989845" "21" "50" "14" "21859746" "21859746" "subst" "6.54557E-5" "00006" "CHD8_000131" "g.21859746C>T" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "NM_020920.3:c.6104G>A" "" "Germline" "" "" "0" "" "" "g.21391587C>T" "" "VUS" "" "0000989846" "11" "30" "14" "21896306" "21896306" "subst" "0" "00006" "CHD8_000140" "g.21896306C>G" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21428147C>G" "" "likely benign" "" "0000989847" "21" "30" "14" "21868205" "21868205" "subst" "0.000130212" "00006" "CHD8_000139" "g.21868205T>C" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "rs61756311" "0" "" "" "g.21400046T>C" "" "likely benign" "" "0000989848" "21" "30" "14" "21862038" "21862038" "subst" "3.25119E-5" "00006" "CHD8_000137" "g.21862038T>C" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21393879T>C" "" "likely benign" "" "0000989849" "11" "30" "14" "21861642" "21861642" "subst" "0.00063753" "00006" "CHD8_000135" "g.21861642C>T" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "rs118140634" "0" "" "" "g.21393483C>T" "" "likely benign" "" "0000989850" "11" "30" "14" "21860073" "21860073" "subst" "1.21954E-5" "00006" "CHD8_000133" "g.21860073G>A" "1/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21391914G>A" "" "likely benign" "" "0000989851" "0" "30" "14" "21853898" "21853898" "subst" "0.000881417" "00006" "CHD8_000130" "g.21853898G>A" "4/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21385739G>A" "" "likely benign" "" "0000989852" "0" "30" "14" "21853898" "21853898" "subst" "0.000881417" "00006" "CHD8_000130" "g.21853898G>A" "4/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21385739G>A" "" "likely benign" "" "0000989853" "0" "30" "14" "21853898" "21853898" "subst" "0.000881417" "00006" "CHD8_000130" "g.21853898G>A" "4/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21385739G>A" "" "likely benign" "" "0000989854" "0" "30" "14" "21853898" "21853898" "subst" "0.000881417" "00006" "CHD8_000130" "g.21853898G>A" "4/379 cases" "{PMID:Merner 2016:26789910}" "" "" "" "Germline" "" "" "0" "" "" "g.21385739G>A" "" "likely benign" "" "0001000842" "0" "30" "14" "21853951" "21853951" "subst" "6.63693E-6" "01804" "SUPT16H_000014" "g.21853951T>C" "" "" "" "CHD8(NM_001170629.1):c.7567A>G (p.(Thr2523Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000843" "0" "50" "14" "21854057" "21854057" "subst" "1.31494E-5" "01804" "SUPT16H_000015" "g.21854057G>C" "" "" "" "CHD8(NM_001170629.1):c.7461C>G (p.(Asp2487Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000844" "0" "50" "14" "21854170" "21854170" "subst" "0" "01804" "SUPT16H_000016" "g.21854170T>C" "" "" "" "CHD8(NM_001170629.1):c.7348A>G (p.(Ser2450Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000845" "0" "50" "14" "21854260" "21854260" "subst" "6.19088E-6" "01804" "SUPT16H_000017" "g.21854260G>A" "" "" "" "CHD8(NM_001170629.1):c.7258C>T (p.(Arg2420Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000846" "0" "30" "14" "21854310" "21854310" "subst" "0" "01804" "SUPT16H_000018" "g.21854310T>C" "" "" "" "CHD8(NM_001170629.1):c.7208A>G (p.(Asn2403Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000847" "0" "30" "14" "21859171" "21859171" "subst" "1.30281E-5" "01804" "CHD8_000142" "g.21859171T>C" "" "" "" "CHD8(NM_001170629.1):c.7117A>G (p.(Lys2373Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000848" "0" "30" "14" "21859731" "21859731" "subst" "4.07229E-5" "01804" "CHD8_000143" "g.21859731T>C" "" "" "" "CHD8(NM_001170629.1):c.6956A>G (p.(Asn2319Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000849" "0" "30" "14" "21860706" "21860706" "subst" "0" "01804" "CHD8_000144" "g.21860706C>T" "" "" "" "CHD8(NM_001170629.1):c.6731G>A (p.(Arg2244Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000850" "0" "50" "14" "21860791" "21860791" "subst" "0" "01804" "CHD8_000145" "g.21860791G>A" "" "" "" "CHD8(NM_001170629.1):c.6646C>T (p.(Pro2216Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000851" "0" "50" "14" "21860965" "21860965" "subst" "1.63268E-5" "02325" "CHD8_000080" "g.21860965G>A" "" "" "" "CHD8(NM_001170629.1):c.6472C>T (p.R2158C), CHD8(NM_001170629.2):c.6472C>T (p.R2158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000852" "0" "50" "14" "21861377" "21861377" "subst" "0" "01804" "CHD8_000146" "g.21861377C>T" "" "" "" "CHD8(NM_001170629.1):c.6356G>A (p.(Ser2119Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000853" "0" "50" "14" "21862069" "21862069" "subst" "0" "01804" "CHD8_000147" "g.21862069A>G" "" "" "" "CHD8(NM_001170629.1):c.5885T>C (p.(Met1962Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000854" "0" "30" "14" "21863266" "21863266" "subst" "0.000678027" "01804" "CHD8_000148" "g.21863266T>C" "" "" "" "CHD8(NM_001170629.1):c.5195A>G (p.(Gln1732Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000855" "0" "50" "14" "21871247" "21871247" "subst" "0" "01804" "CHD8_000149" "g.21871247C>G" "" "" "" "CHD8(NM_001170629.1):c.3643G>C (p.(Gly1215Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000856" "0" "50" "14" "21871309" "21871309" "subst" "0" "01804" "CHD8_000150" "g.21871309C>T" "" "" "" "CHD8(NM_001170629.1):c.3581G>A (p.(Arg1194His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000857" "0" "30" "14" "21875110" "21875110" "subst" "2.07436E-5" "01804" "CHD8_000151" "g.21875110G>A" "" "" "" "CHD8(NM_001170629.1):c.2812C>T (p.(Arg938Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000858" "0" "50" "14" "21881158" "21881158" "subst" "0" "01804" "CHD8_000152" "g.21881158A>C" "" "" "" "CHD8(NM_001170629.1):c.2143-3T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000859" "0" "30" "14" "21896314" "21896314" "subst" "2.03136E-5" "01804" "CHD8_000056" "g.21896314G>A" "" "" "" "CHD8(NM_001170629.1):c.1315C>T (p.H439Y, p.(His439Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000860" "0" "50" "14" "21896377" "21896377" "subst" "0" "01804" "CHD8_000153" "g.21896377C>T" "" "" "" "CHD8(NM_001170629.1):c.1252G>A (p.(Val418Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000861" "0" "30" "14" "21897262" "21897262" "subst" "0" "01804" "CHD8_000154" "g.21897262G>A" "" "" "" "CHD8(NM_001170629.1):c.1076C>T (p.(Ser359Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000862" "0" "50" "14" "21897467" "21897467" "subst" "0.00110823" "01804" "CHD8_000053" "g.21897467G>A" "" "" "" "CHD8(NM_001170629.1):c.871C>T (p.(Leu291Phe)), CHD8(NM_001170629.2):c.871C>T (p.L291F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000863" "0" "30" "14" "21899491" "21899491" "subst" "2.87039E-5" "01804" "CHD8_000155" "g.21899491C>G" "" "" "" "CHD8(NM_001170629.1):c.312G>C (p.(Gln104His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000864" "0" "30" "14" "21899541" "21899541" "subst" "0.000451424" "01804" "CHD8_000156" "g.21899541C>T" "" "" "" "CHD8(NM_001170629.1):c.262G>A (p.(Glu88Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000865" "0" "50" "14" "21899973" "21899973" "subst" "0" "01804" "CHD8_000157" "g.21899973C>T" "" "" "" "CHD8(NM_020920.3):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001010119" "21" "90" "14" "21866049" "21866049" "subst" "0" "00006" "CHD8_000158" "g.21866049G>A" "" "{PMID:Dekker 2023:36669495}" "" "" "mother healthy but macrocephalic; monoallelic expression (variant nonsense mediated mRNA decay)" "Germline" "" "" "0" "methylation array CHD8-related signature" "" "g.21397890G>A" "" "pathogenic (!)" "" "0001011132" "0" "50" "14" "21869091" "21869093" "del" "0" "00006" "CHD8_000160" "g.21869091_21869093del" "1/390 cases SCZ" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.21400932_21400934del" "" "VUS" "" "0001011133" "0" "50" "14" "21860022" "21860024" "del" "0" "00006" "CHD8_000159" "g.21860022_21860024del" "1/390 cases SCZ" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.21391863_21391865del" "" "VUS" "" "0001011134" "0" "30" "14" "21878056" "21878056" "subst" "0.000158493" "00006" "CHD8_000072" "g.21878056C>T" "2/390 cases SCZ" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.21409897C>T" "" "likely benign" "" "0001011983" "0" "90" "14" "21868463" "21868463" "dup" "0" "00006" "CHD8_000161" "g.21868463dup" "" "{PMID:Salinas 2020:33084218}" "" "4574dupT" "" "Unknown" "" "" "0" "" "" "g.21400304dup" "SUB7803729" "pathogenic" "" "0001015121" "0" "90" "14" "21868758" "21868758" "subst" "0" "02329" "CHD8_000162" "g.21868758G>A" "" "" "" "CHD8(NM_001170629.2):c.4384C>T (p.R1462*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029724" "0" "90" "14" "21876467" "21876467" "subst" "0" "04409" "CHD8_000163" "g.21876467T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.21408308T>C" "" "pathogenic (dominant)" "ACMG" "0001039859" "0" "50" "14" "21854028" "21854028" "subst" "0" "01804" "SUPT16H_000021" "g.21854028T>G" "" "" "" "CHD8(NM_001170629.2):c.7490A>C (p.(His2497Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039860" "0" "30" "14" "21854231" "21854231" "subst" "0" "01804" "SUPT16H_000022" "g.21854231C>T" "" "" "" "CHD8(NM_001170629.2):c.7287G>A (p.(Met2429Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039861" "0" "50" "14" "21859730" "21859730" "subst" "0" "01804" "CHD8_000164" "g.21859730A>T" "" "" "" "CHD8(NM_001170629.2):c.6957T>A (p.(Asn2319Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039862" "0" "30" "14" "21861360" "21861360" "subst" "4.87417E-5" "01804" "CHD8_000165" "g.21861360T>C" "" "" "" "CHD8(NM_001170629.2):c.6373A>G (p.(Met2125Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039863" "0" "30" "14" "21862289" "21862289" "subst" "0.00014704" "01804" "CHD8_000166" "g.21862289G>A" "" "" "" "CHD8(NM_001170629.2):c.5665C>T (p.(Arg1889Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039864" "0" "50" "14" "21862292" "21862292" "subst" "8.17E-6" "01804" "CHD8_000167" "g.21862292A>G" "" "" "" "CHD8(NM_001170629.2):c.5662T>C (p.(Tyr1888His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039865" "0" "50" "14" "21862295" "21862295" "subst" "4.0937E-6" "01804" "CHD8_000168" "g.21862295G>C" "" "" "" "CHD8(NM_001170629.2):c.5659C>G (p.(Leu1887Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039866" "0" "30" "14" "21867756" "21867756" "subst" "0.000337915" "01804" "CHD8_000014" "g.21867756C>T" "" "" "" "CHD8(NM_001170629.2):c.4921+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039867" "0" "50" "14" "21868737" "21868737" "subst" "4.60609E-6" "01804" "CHD8_000169" "g.21868737G>A" "" "" "" "CHD8(NM_001170629.2):c.4405C>T (p.(Arg1469Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039868" "0" "50" "14" "21869579" "21869579" "subst" "4.50203E-6" "01804" "CHD8_000170" "g.21869579C>G" "" "" "" "CHD8(NM_001170629.2):c.4156G>C (p.(Asp1386His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039869" "0" "30" "14" "21876549" "21876549" "subst" "3.25216E-5" "01804" "CHD8_000171" "g.21876549C>T" "" "" "" "CHD8(NM_001170629.2):c.2652G>A (p.(Met884Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039870" "0" "30" "14" "21896310" "21896310" "subst" "2.43784E-5" "01804" "CHD8_000172" "g.21896310G>A" "" "" "" "CHD8(NM_001170629.2):c.1319C>T (p.(Ser440Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039871" "0" "30" "14" "21899658" "21899658" "subst" "0.000754371" "01804" "CHD8_000173" "g.21899658T>C" "" "" "" "CHD8(NM_001170629.2):c.145A>G (p.(Met49Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047563" "0" "70" "14" "21860710" "21860710" "subst" "0" "03544" "CHD8_000174" "g.21860710G>A" "" "" "" "" "" "De novo" "-" "rs1366060161" "0" "" "" "g.21392551G>A" "{CV:2577816}" "likely pathogenic" "ACMG" "0001048430" "21" "50" "14" "21897285" "21897285" "subst" "0" "04903" "CHD8_000175" "g.21897285C>G" "" "brother and mother carrier this variant also" "" "" "" "Germline" "" "" "0" "" "" "g.21429126G>C" "" "VUS" "ACMG" "0001048431" "21" "50" "14" "21897285" "21897285" "subst" "0" "04903" "CHD8_000175" "g.21897285C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21429126G>C" "" "VUS" "" "0001048432" "0" "50" "14" "21897285" "21897285" "subst" "0" "04903" "CHD8_000175" "g.21897285C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21429126G>C" "" "VUS" "ACMG" "0001049703" "0" "70" "14" "21853868" "21853868" "subst" "0" "00006" "CHD8_000176" "g.21853868T>A" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "variant not maternally inherited" "Germline/De novo (untested)" "" "" "0" "" "" "g.21385709T>A" "" "VUS" "" "0001054755" "0" "50" "14" "21862148" "21862148" "subst" "0" "01804" "CHD8_000177" "g.21862148C>A" "" "" "" "CHD8(NM_001170629.2):c.5806G>T (p.(Gly1936Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054756" "0" "50" "14" "21862472" "21862472" "subst" "1.62504E-5" "01804" "CHD8_000178" "g.21862472G>A" "" "" "" "CHD8(NM_001170629.2):c.5563C>T (p.(Arg1855Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054757" "0" "50" "14" "21862782" "21862783" "dup" "0" "01804" "CHD8_000179" "g.21862782_21862783dup" "" "" "" "CHD8(NM_001170629.2):c.5391-122_5391-121dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054758" "0" "50" "14" "21869082" "21869082" "subst" "0" "01804" "CHD8_000180" "g.21869082T>C" "" "" "" "CHD8(NM_001170629.2):c.4322A>G (p.(Tyr1441Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054759" "0" "50" "14" "21873482" "21873482" "subst" "4.19685E-6" "01804" "CHD8_000181" "g.21873482A>C" "" "" "" "CHD8(NM_001170629.2):c.3193T>G (p.(Leu1065Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054760" "0" "50" "14" "21882504" "21882504" "subst" "0" "01804" "CHD8_000182" "g.21882504G>A" "" "" "" "CHD8(NM_001170629.2):c.2098C>T (p.(Arg700Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054761" "0" "30" "14" "21899347" "21899347" "subst" "0.00242779" "01804" "CHD8_000044" "g.21899347T>C" "" "" "" "CHD8(NM_001170629.1):c.456A>G (p.P152=), CHD8(NM_001170629.2):c.456A>G (p.(Pro152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061737" "0" "90" "14" "21860788" "21860788" "subst" "0" "00006" "CHD8_000026" "g.21860788G>A" "" "{PMID:Zech 2020:33098801}" "" "NM_020920.3:c.5812C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21392629G>A" "" "pathogenic (dominant)" "" "0001061738" "0" "70" "14" "21788176" "22676026" "del" "0" "00006" "CHD8_000183" "g.(?_21788176)_(22676026_?)del" "" "{PMID:Zech 2020:33098801}" "" "chr14:21788176-22676026del" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_21320017)_(22207867_?)del" "" "likely pathogenic (dominant)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CHD8 ## Count = 214 "{{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}}" "0000079545" "00025729" "90" "3512" "0" "3512" "0" "c.3512A>C" "r.(?)" "p.(Gln1171Pro)" "" "0000179017" "00025729" "90" "1184" "0" "1184" "0" "c.1184del" "r.(?)" "p.(Ser395Ter)" "" "0000237906" "00025729" "90" "4871" "0" "4871" "0" "c.4871G>A" "r.(?)" "p.(Trp1624Ter)" "" "0000241260" "00025729" "70" "5488" "0" "5488" "0" "c.5488C>T" "r.(?)" "p.(Arg1830Cys)" "" "0000253610" "00025729" "10" "6571" "0" "6571" "0" "c.6571T>C" "r.(?)" "p.(Leu2191=)" "" "0000270148" "00025729" "90" "3562" "0" "3562" "0" "c.3562C>T" "r.(?)" "p.(Arg1188Ter)" "" "0000273517" "00025729" "30" "1968" "6" "1968" "6" "c.1968+6G>A" "r.(=)" "p.(=)" "" "0000273518" "00025729" "10" "6232" "0" "6232" "0" "c.6232C>T" "r.(?)" "p.(Leu2078=)" "" "0000273519" "00025729" "50" "7431" "0" "7431" "0" "c.7431G>A" "r.(?)" "p.(Met2477Ile)" "" "0000273520" "00025729" "30" "7499" "0" "7499" "0" "c.7499A>C" "r.(?)" "p.(His2500Pro)" "" "0000323569" "00025729" "50" "5231" "0" "5231" "0" "c.5231C>T" "r.(?)" "p.(Ala1744Val)" "" "0000337514" "00025729" "50" "4921" "5" "4921" "5" "c.4921+5G>A" "r.spl?" "p.?" "" "0000341106" "00025729" "70" "3226" "0" "3226" "0" "c.3226G>T" "r.(?)" "p.(Ala1076Ser)" "" "0000341172" "00025729" "70" "5182" "0" "5182" "0" "c.5182G>C" "r.(?)" "p.(Ala1728Pro)" "" "0000351041" "00025729" "50" "4062" "5" "4062" "5" "c.4062+5G>C" "r.spl?" "p.?" "" "0000351042" "00025729" "70" "2731" "-2" "2731" "-2" "c.2731-2A>G" "r.spl?" "p.?" "" "0000379125" "00025729" "90" "5448" "0" "5448" "0" "c.5448dup" "r.(4611dup)" "p.(Tyr1817IlefsTer2)" "" "0000551526" "00025729" "30" "7675" "0" "7675" "0" "c.7675A>G" "r.(?)" "p.(Arg2559Gly)" "" "0000551527" "00025729" "30" "7505" "0" "7505" "0" "c.7505A>C" "r.(?)" "p.(His2502Pro)" "" "0000551528" "00025729" "30" "7499" "0" "7499" "0" "c.7499A>C" "r.(?)" "p.(His2500Pro)" "" "0000551529" "00025729" "30" "7312" "0" "7312" "0" "c.7312A>C" "r.(?)" "p.(Thr2438Pro)" "" "0000551530" "00025729" "30" "7203" "0" "7203" "0" "c.7203G>A" "r.(?)" "p.(Val2401=)" "" "0000551531" "00025729" "30" "7047" "0" "7047" "0" "c.7047T>A" "r.(?)" "p.(Val2349=)" "" "0000551532" "00025729" "30" "6931" "0" "6931" "0" "c.6931C>T" "r.(?)" "p.(Leu2311=)" "" "0000551533" "00025729" "90" "6649" "0" "6649" "0" "c.6649C>T" "r.(?)" "p.(Arg2217Ter)" "" "0000551534" "00025729" "50" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Pro2131Leu)" "" "0000551535" "00025729" "10" "6119" "0" "6119" "0" "c.6119A>G" "r.(?)" "p.(Asp2040Gly)" "" "0000551536" "00025729" "30" "6054" "0" "6054" "0" "c.6054T>C" "r.(?)" "p.(Ser2018=)" "" "0000551537" "00025729" "50" "5599" "7" "5599" "7" "c.5599+7A>C" "r.(=)" "p.(=)" "" "0000551538" "00025729" "90" "5017" "0" "5017" "0" "c.5017C>T" "r.(?)" "p.(Arg1673Ter)" "" "0000551539" "00025729" "70" "4817" "3" "4817" "3" "c.4817+3A>T" "r.spl?" "p.?" "" "0000551540" "00025729" "50" "4453" "0" "4453" "0" "c.4453G>T" "r.(?)" "p.(Ala1485Ser)" "" "0000551542" "00025729" "70" "4414" "0" "4414" "0" "c.4414C>T" "r.(?)" "p.(Arg1472Ter)" "" "0000551543" "00025729" "30" "4245" "0" "4245" "0" "c.4245C>T" "r.(?)" "p.(Asp1415=)" "" "0000551544" "00025729" "70" "3562" "0" "3562" "0" "c.3562C>T" "r.(?)" "p.(Arg1188Ter)" "" "0000551545" "00025729" "70" "3050" "0" "3050" "0" "c.3050del" "r.(?)" "p.(Gln1017ArgfsTer12)" "" "0000551546" "00025729" "50" "2617" "0" "2617" "0" "c.2617A>G" "r.(?)" "p.(Asn873Asp)" "" "0000551547" "00025729" "30" "2300" "0" "2300" "0" "c.2300T>C" "r.(?)" "p.(Val767Ala)" "" "0000551548" "00025729" "70" "2140" "0" "2140" "0" "c.2140G>T" "r.(?)" "p.(Glu714Ter)" "" "0000551549" "00025729" "30" "1091" "0" "1091" "0" "c.1091C>G" "r.(?)" "p.(Pro364Arg)" "" "0000551551" "00025729" "30" "456" "0" "456" "0" "c.456A>G" "r.(?)" "p.(Pro152=)" "" "0000614770" "00025729" "50" "3464" "0" "3466" "0" "c.3464_3466del" "r.(?)" "p.(Phe1155del)" "" "0000614771" "00025729" "70" "2950" "0" "2950" "0" "c.2950del" "r.(?)" "p.(Val984Ter)" "" "0000614772" "00025729" "90" "2801" "0" "2804" "0" "c.2801_2804del" "r.(?)" "p.(Cys934LeufsTer19)" "" "0000614773" "00025729" "50" "1601" "6" "1601" "6" "c.1601+6T>A" "r.(=)" "p.(=)" "" "0000632615" "00025729" "50" "5335" "0" "5335" "0" "c.5335C>T" "r.(?)" "p.(Arg1779Cys)" "" "0000648832" "00025729" "10" "5007" "0" "5007" "0" "c.5007A>G" "r.(=)" "p.(=)" "" "0000648833" "00025729" "30" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Leu291Phe)" "" "0000657369" "00025729" "50" "7515" "0" "7523" "0" "c.7515_7523del" "r.(?)" "p.(His2506_His2508del)" "" "0000657370" "00025729" "90" "5796" "0" "5799" "0" "c.5796_5799dup" "r.(?)" "p.(Leu1934AlafsTer74)" "" "0000657371" "00025729" "50" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(His439Tyr)" "" "0000657372" "00025729" "50" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Pro404Ser)" "" "0000657373" "00025729" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Ile)" "" "0000668651" "00025729" "90" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797Ter)" "" "0000679902" "00025729" "30" "6700" "0" "6700" "0" "c.6700A>G" "r.(?)" "p.(Thr2234Ala)" "" "0000679903" "00025729" "50" "3404" "0" "3404" "0" "c.3404T>G" "r.(?)" "p.(Leu1135Arg)" "" "0000679904" "00025729" "70" "2252" "0" "2252" "0" "c.2252G>T" "r.(?)" "p.(Trp751Leu)" "" "0000679905" "00025729" "30" "2024" "8" "2024" "8" "c.2024+8A>T" "r.(=)" "p.(=)" "" "0000691607" "00025729" "90" "6649" "0" "6649" "0" "c.6649C>T" "r.(?)" "p.(Arg2217Ter)" "" "0000691608" "00025729" "90" "5892" "0" "5892" "0" "c.5892T>G" "r.(?)" "p.(Tyr1964Ter)" "" "0000691609" "00025729" "50" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Leu129Pro)" "" "0000698376" "00025729" "50" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(Arg1406Cys)" "" "0000704164" "00025729" "90" "3638" "0" "3638" "0" "c.3638del" "r.(?)" "p.(Gly1213AspfsTer40)" "" "0000712076" "00025729" "90" "4414" "0" "4414" "0" "c.4414C>T" "r.(?)" "p.(Arg1472Ter)" "" "0000712077" "00025729" "90" "2907" "1" "2907" "1" "c.2907+1G>T" "r.spl" "p.?" "" "0000712078" "00025729" "90" "4514" "0" "4514" "0" "c.4514G>A" "r.(?)" "p.(Trp1505Ter)" "" "0000724672" "00025729" "90" "5943" "0" "5947" "0" "c.5943_5947del" "r.(?)" "p.(Pro1983Alafs*22)" "" "0000724673" "00025729" "30" "4571" "-10" "4571" "-10" "c.4571-10C>A" "r.(=)" "p.(=)" "" "0000724674" "00025729" "90" "4204" "0" "4204" "0" "c.4204C>T" "r.(?)" "p.(Arg1402Ter)" "" "0000724675" "00025729" "50" "4009" "0" "4009" "0" "c.4009C>T" "r.(?)" "p.(Arg1337Ter)" "" "0000724676" "00025729" "50" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Gln)" "" "0000724677" "00025729" "50" "2008" "0" "2008" "0" "c.2008G>C" "r.(?)" "p.(Val670Leu)" "" "0000806294" "00025729" "90" "6642" "0" "6642" "0" "c.6642del" "r.(?)" "p.(Thr2215Hisfs*47)" "" "0000806295" "00025729" "90" "6270" "0" "6270" "0" "c.6270del" "r.(?)" "p.(Ser2091Profs*16)" "" "0000806296" "00025729" "90" "1638" "0" "1638" "0" "c.1638dup" "r.(?)" "p.(Asn547*)" "" "0000806297" "00025729" "30" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ser432=)" "" "0000806298" "00025729" "50" "982" "0" "982" "0" "c.982A>G" "r.(?)" "p.(Lys328Glu)" "" "0000853736" "00025729" "90" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Arg1210Trp)" "" "0000863489" "00025729" "30" "7675" "0" "7675" "0" "c.7675A>G" "r.(?)" "p.(Arg2559Gly)" "" "0000863490" "00025729" "30" "7665" "0" "7665" "0" "c.7665T>C" "r.(?)" "p.(Asp2555=)" "" "0000863491" "00025729" "50" "6472" "0" "6472" "0" "c.6472C>T" "r.(?)" "p.(Arg2158Cys)" "" "0000863492" "00025729" "70" "5129" "0" "5129" "0" "c.5129G>T" "r.(?)" "p.(Gly1710Val)" "" "0000863493" "00025729" "30" "5007" "0" "5007" "0" "c.5007A>G" "r.(?)" "p.(Ala1669=)" "" "0000863494" "00025729" "70" "4009" "0" "4009" "0" "c.4009C>T" "r.(?)" "p.(Arg1337Ter)" "" "0000863495" "00025729" "70" "3882" "1" "3882" "1" "c.3882+1G>A" "r.spl?" "p.?" "" "0000863496" "00025729" "50" "2317" "0" "2317" "0" "c.2317C>G" "r.(?)" "p.(Arg773Gly)" "" "0000863497" "00025729" "30" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Asn479=)" "" "0000863498" "00025729" "30" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Phe9=)" "" "0000871256" "00025729" "90" "3340" "0" "3340" "0" "c.3340G>T" "r.(?)" "p.(Glu1114Ter)" "" "0000873887" "00025729" "90" "2303" "0" "2321" "0" "c.2303_2321delinsGGCCCAGTGCTTGGCCAG" "r.(?)" "p.(Asp768GlyfsTer21)" "" "0000874618" "00025729" "50" "1899" "5" "1899" "5" "c.1899+5G>A" "r.spl?" "p.?" "" "0000891678" "00025729" "90" "6176" "0" "6176" "0" "c.6176del" "r.(?)" "p.(Pro2059Hisfs*17)" "" "0000891679" "00025729" "90" "4378" "0" "4378" "0" "c.4378C>T" "r.(?)" "p.(Arg1460*)" "" "0000891680" "00025729" "70" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Val1252Met)" "" "0000891681" "00025729" "50" "2364" "2" "2364" "2" "c.2364+2T>C" "r.spl?" "p.?" "" "0000891682" "00025729" "90" "58" "0" "59" "0" "c.58_59del" "r.(?)" "p.(Leu20Aspfs*2)" "" "0000908885" "00025729" "90" "3308" "-1" "3308" "-1" "c.3308-1G>C" "r.[3307_3308ins[3308-66_3308-2;c],3308_3379del]" "p.[Gly1103Valfs*3,Ala1104Hisfs*12]" "" "0000914150" "00025729" "90" "4800" "0" "4800" "0" "c.4800del" "r.(?)" "p.(Gly1602Valfs*13)" "" "0000914151" "00025729" "50" "2111" "0" "2111" "0" "c.2111A>G" "r.(?)" "p.(Lys704Arg)" "" "0000914152" "00025729" "50" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237His)" "" "0000920180" "00025729" "50" "4697" "0" "4697" "0" "c.4697A>G" "r.(?)" "p.(Tyr1566Cys)" "" "0000921054" "00025729" "90" "1123" "0" "1124" "0" "c.1123_1124del" "r.(?)" "p.(Leu375Valfs*45)" "" "0000925838" "00025729" "50" "2484" "0" "2484" "0" "c.2484C>T" "r.(?)" "p.(Asn828=)" "" "0000930272" "00025729" "30" "4496" "0" "4496" "0" "c.4496A>C" "r.(?)" "p.(Asn1499Thr)" "" "0000930273" "00025729" "50" "2111" "0" "2111" "0" "c.2111A>G" "r.(?)" "p.(Lys704Arg)" "" "0000930274" "00025729" "70" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Gln300*)" "" "0000931677" "00025729" "50" "5314" "0" "5314" "0" "c.5314C>T" "r.(?)" "p.(Arg1772Cys)" "" "0000935186" "00025729" "50" "68" "0" "68" "0" "c.68A>C" "r.(?)" "p.(Asp23Ala)" "" "0000935996" "00025729" "70" "5275" "0" "5275" "0" "c.5275A>C" "r.(?)" "p.(Ser1759Arg)" "" "0000939795" "00025729" "70" "5534" "0" "5543" "0" "c.5534_5543del" "r.(?)" "p.(Lys1845MetfsTer43)" "30" "0000950213" "00025729" "90" "3022" "0" "3022" "0" "c.3022del" "r.(?)" "p.(Asp1008Thrfs*21)" "" "0000950214" "00025729" "30" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Leu291Phe)" "" "0000967435" "00025729" "50" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Pro2131Leu)" "" "0000967436" "00025729" "30" "5051" "0" "5051" "0" "c.5051G>T" "r.(?)" "p.(Gly1684Val)" "" "0000980807" "00025729" "30" "7635" "0" "7637" "0" "c.7635_7637del" "r.(?)" "p.(Glu2545del)" "" "0000980808" "00025729" "30" "7297" "0" "7297" "0" "c.7297A>G" "r.(?)" "p.(Met2433Val)" "" "0000980809" "00025729" "50" "7025" "0" "7025" "0" "c.7025A>G" "r.(?)" "p.(Gln2342Arg)" "" "0000980810" "00025729" "50" "6903" "0" "6903" "0" "c.6903G>C" "r.(?)" "p.(Met2301Ile)" "" "0000980811" "00025729" "30" "5645" "0" "5645" "0" "c.5645G>A" "r.(?)" "p.(Arg1882Lys)" "" "0000980812" "00025729" "50" "5621" "0" "5621" "0" "c.5621T>C" "r.(?)" "p.(Phe1874Ser)" "" "0000980813" "00025729" "50" "5143" "0" "5143" "0" "c.5143A>T" "r.(?)" "p.(Met1715Leu)" "" "0000980814" "00025729" "30" "4624" "0" "4624" "0" "c.4624A>G" "r.(?)" "p.(Ser1542Gly)" "" "0000980815" "00025729" "30" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Ser389Asn)" "" "0000985277" "00025729" "70" "1968" "1" "1968" "1" "c.1968+1G>A" "r.spl" "p.?" "" "0000985366" "00025729" "70" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "20" "0000985777" "00025729" "90" "2024" "5" "2024" "5" "c.2024+5G>A" "r.spl?" "p.?" "" "0000985778" "00025729" "90" "3518" "1" "3518" "1" "c.3518+1G>T" "r.spl" "p.?" "" "0000985779" "00025729" "90" "470" "0" "470" "0" "c.470del" "r.(?)" "p.(Pro157LeufsTer50)" "" "0000985780" "00025729" "90" "7511" "0" "7511" "0" "c.7511dup" "r.(?)" "p.(His2504GlnfsTer34)" "" "0000985781" "00025729" "90" "4414" "0" "4414" "0" "c.4414C>T" "r.(?)" "p.(Arg1472Ter)" "" "0000985782" "00025729" "90" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564Ter)" "" "0000985783" "00025729" "90" "6569" "0" "6587" "0" "c.6569_6587del" "r.(?)" "p.(Ile2190ThrfsTer3)" "" "0000985784" "00025729" "90" "5500" "0" "5500" "0" "c.5500C>T" "r.(?)" "p.(Arg1834Ter)" "" "0000985785" "00025729" "90" "5051" "1" "5051" "1" "c.5051+1G>C" "r.spl" "p.?" "" "0000985786" "00025729" "90" "6115" "0" "6115" "0" "c.6115del" "r.(?)" "p.(Gln2039LysfsTer37)" "" "0000985787" "00025729" "90" "4367" "0" "4367" "0" "c.4367A>G" "r.(?)" "p.(Tyr1456Cys)" "" "0000985788" "00025729" "90" "4204" "0" "4204" "0" "c.4204C>T" "r.(?)" "p.(Arg1402Ter)" "" "0000988416" "00025729" "70" "5422" "0" "5422" "0" "c.5422C>T" "r.(?)" "p.(Arg1808*)" "31" "0000989837" "00025729" "50" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Cys)" "" "0000989838" "00025729" "30" "4811" "0" "4811" "0" "c.4811T>C" "r.(?)" "p.(Ile1604Thr)" "" "0000989839" "00025729" "30" "6085" "0" "6085" "0" "c.6085G>A" "r.(?)" "p.(Glu2029Lys)" "" "0000989840" "00025729" "30" "6085" "0" "6085" "0" "c.6085G>A" "r.(?)" "p.(Glu2029Lys)" "" "0000989841" "00025729" "30" "6085" "0" "6085" "0" "c.6085G>A" "r.(?)" "p.(Glu2029Lys)" "" "0000989842" "00025729" "50" "6472" "0" "6472" "0" "c.6472C>T" "r.(?)" "p.(Arg2158Cys)" "" "0000989843" "00025729" "50" "6538" "0" "6538" "0" "c.6538C>T" "r.(?)" "p.(Arg2180Cys)" "" "0000989844" "00025729" "50" "6830" "0" "6830" "0" "c.6830G>C" "r.(?)" "p.(Gly2277Ala)" "" "0000989845" "00025729" "50" "6941" "0" "6941" "0" "c.6941G>A" "r.(?)" "p.(Arg2314Gln)" "" "0000989846" "00025729" "30" "1323" "0" "1323" "0" "c.1323G>C" "r.(?)" "p.(Gly441=)" "" "0000989847" "00025729" "30" "4752" "0" "4752" "0" "c.4752A>G" "r.(?)" "p.(Leu1584=)" "" "0000989848" "00025729" "30" "5916" "0" "5916" "0" "c.5916A>G" "r.(?)" "p.(Ala1972=)" "" "0000989849" "00025729" "30" "6312" "0" "6312" "0" "c.6312G>A" "r.(?)" "p.(Glu2104=)" "" "0000989850" "00025729" "30" "6804" "0" "6804" "0" "c.6804C>T" "r.(?)" "p.(His2268=)" "" "0000989851" "00025729" "30" "7620" "0" "7620" "0" "c.7620C>T" "r.(?)" "p.(Asp2540=)" "" "0000989852" "00025729" "30" "7620" "0" "7620" "0" "c.7620C>T" "r.(?)" "p.(Asp2540=)" "" "0000989853" "00025729" "30" "7620" "0" "7620" "0" "c.7620C>T" "r.(?)" "p.(Asp2540=)" "" "0000989854" "00025729" "30" "7620" "0" "7620" "0" "c.7620C>T" "r.(?)" "p.(Asp2540=)" "" "0001000842" "00025729" "30" "7567" "0" "7567" "0" "c.7567A>G" "r.(?)" "p.(Thr2523Ala)" "" "0001000843" "00025729" "50" "7461" "0" "7461" "0" "c.7461C>G" "r.(?)" "p.(Asp2487Glu)" "" "0001000844" "00025729" "50" "7348" "0" "7348" "0" "c.7348A>G" "r.(?)" "p.(Ser2450Gly)" "" "0001000845" "00025729" "50" "7258" "0" "7258" "0" "c.7258C>T" "r.(?)" "p.(Arg2420Cys)" "" "0001000846" "00025729" "30" "7208" "0" "7208" "0" "c.7208A>G" "r.(?)" "p.(Asn2403Ser)" "" "0001000847" "00025729" "30" "7117" "0" "7117" "0" "c.7117A>G" "r.(?)" "p.(Lys2373Glu)" "" "0001000848" "00025729" "30" "6956" "0" "6956" "0" "c.6956A>G" "r.(?)" "p.(Asn2319Ser)" "" "0001000849" "00025729" "30" "6731" "0" "6731" "0" "c.6731G>A" "r.(?)" "p.(Arg2244Gln)" "" "0001000850" "00025729" "50" "6646" "0" "6646" "0" "c.6646C>T" "r.(?)" "p.(Pro2216Ser)" "" "0001000851" "00025729" "50" "6472" "0" "6472" "0" "c.6472C>T" "r.(?)" "p.(Arg2158Cys)" "" "0001000852" "00025729" "50" "6356" "0" "6356" "0" "c.6356G>A" "r.(?)" "p.(Ser2119Asn)" "" "0001000853" "00025729" "50" "5885" "0" "5885" "0" "c.5885T>C" "r.(?)" "p.(Met1962Thr)" "" "0001000854" "00025729" "30" "5195" "0" "5195" "0" "c.5195A>G" "r.(?)" "p.(Gln1732Arg)" "" "0001000855" "00025729" "50" "3643" "0" "3643" "0" "c.3643G>C" "r.(?)" "p.(Gly1215Arg)" "" "0001000856" "00025729" "50" "3581" "0" "3581" "0" "c.3581G>A" "r.(?)" "p.(Arg1194His)" "" "0001000857" "00025729" "30" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Arg938Cys)" "" "0001000858" "00025729" "50" "2143" "-3" "2143" "-3" "c.2143-3T>G" "r.spl?" "p.?" "" "0001000859" "00025729" "30" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(His439Tyr)" "" "0001000860" "00025729" "50" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Val418Ile)" "" "0001000861" "00025729" "30" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Leu)" "" "0001000862" "00025729" "50" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Leu291Phe)" "" "0001000863" "00025729" "30" "312" "0" "312" "0" "c.312G>C" "r.(?)" "p.(Gln104His)" "" "0001000864" "00025729" "30" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Glu88Lys)" "" "0001000865" "00025729" "50" "-171" "0" "-171" "0" "c.-171G>A" "r.(?)" "p.(=)" "" "0001010119" "00025729" "90" "4984" "0" "4984" "0" "c.4984C>T" "r.4984c>u" "p.Arg1662Ter" "" "0001011132" "00025729" "50" "4315" "0" "4317" "0" "c.4315_4317del" "r.(?)" "p.(His1439del)" "" "0001011133" "00025729" "50" "6859" "0" "6861" "0" "c.6859_6861del" "r.(?)" "p.(Lys2287del)" "" "0001011134" "00025729" "30" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Gln)" "" "0001011983" "00025729" "90" "4574" "0" "4574" "0" "c.4574dup" "r.(?)" "p.(Ser1526IlefsTer20)" "" "0001015121" "00025729" "90" "4384" "0" "4384" "0" "c.4384C>T" "r.(?)" "p.(Arg1462*)" "" "0001029724" "00025729" "90" "2730" "4" "2730" "4" "c.2730+4A>G" "r.2486_2487ins[GTGG;2486+5_2487-1]" "p.Gln830fs" "13i" "0001039859" "00025729" "50" "7490" "0" "7490" "0" "c.7490A>C" "r.(?)" "p.(His2497Pro)" "" "0001039860" "00025729" "30" "7287" "0" "7287" "0" "c.7287G>A" "r.(?)" "p.(Met2429Ile)" "" "0001039861" "00025729" "50" "6957" "0" "6957" "0" "c.6957T>A" "r.(?)" "p.(Asn2319Lys)" "" "0001039862" "00025729" "30" "6373" "0" "6373" "0" "c.6373A>G" "r.(?)" "p.(Met2125Val)" "" "0001039863" "00025729" "30" "5665" "0" "5665" "0" "c.5665C>T" "r.(?)" "p.(Arg1889Cys)" "" "0001039864" "00025729" "50" "5662" "0" "5662" "0" "c.5662T>C" "r.(?)" "p.(Tyr1888His)" "" "0001039865" "00025729" "50" "5659" "0" "5659" "0" "c.5659C>G" "r.(?)" "p.(Leu1887Val)" "" "0001039866" "00025729" "30" "4921" "5" "4921" "5" "c.4921+5G>A" "r.spl?" "p.?" "" "0001039867" "00025729" "50" "4405" "0" "4405" "0" "c.4405C>T" "r.(?)" "p.(Arg1469Cys)" "" "0001039868" "00025729" "50" "4156" "0" "4156" "0" "c.4156G>C" "r.(?)" "p.(Asp1386His)" "" "0001039869" "00025729" "30" "2652" "0" "2652" "0" "c.2652G>A" "r.(?)" "p.(Met884Ile)" "" "0001039870" "00025729" "30" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Ser440Leu)" "" "0001039871" "00025729" "30" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Met49Val)" "" "0001047563" "00025729" "70" "6727" "0" "6727" "0" "c.6727C>T" "r.(6727C>T)" "p.(Arg2243Cys)" "34" "0001048430" "00025729" "50" "1053" "0" "1053" "0" "c.1053C>G" "r.(?)" "p.(Ile351Met)" "" "0001048431" "00025729" "50" "1053" "0" "1053" "0" "c.1053C>G" "r.(?)" "p.(Ile351Met)" "E-3" "0001048432" "00025729" "50" "1053" "0" "1053" "0" "c.1053C>G" "r.(?)" "p.(Ile351Met)" "3" "0001049703" "00025729" "70" "7650" "0" "7650" "0" "c.7650A>T" "r.(?)" "p.(Leu2550Phe)" "" "0001054755" "00025729" "50" "5806" "0" "5806" "0" "c.5806G>T" "r.(?)" "p.(Gly1936Trp)" "" "0001054756" "00025729" "50" "5563" "0" "5563" "0" "c.5563C>T" "r.(?)" "p.(Arg1855Cys)" "" "0001054757" "00025729" "50" "5391" "-122" "5391" "-121" "c.5391-122_5391-121dup" "r.(=)" "p.(=)" "" "0001054758" "00025729" "50" "4322" "0" "4322" "0" "c.4322A>G" "r.(?)" "p.(Tyr1441Cys)" "" "0001054759" "00025729" "50" "3193" "0" "3193" "0" "c.3193T>G" "r.(?)" "p.(Leu1065Val)" "" "0001054760" "00025729" "50" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Arg700Cys)" "" "0001054761" "00025729" "30" "456" "0" "456" "0" "c.456A>G" "r.(?)" "p.(Pro152=)" "" "0001061737" "00025729" "90" "6649" "0" "6649" "0" "c.6649C>T" "r.(?)" "p.(Arg2217Ter)" "" "0001061738" "00025729" "70" "" "0" "" "0" "c.-776224_*65596del" "r.0" "p.0" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{variantid}}" "0000050565" "0000079545" "0000111859" "0000179017" "0000145531" "0000237906" "0000147979" "0000241260" "0000168987" "0000379125" "0000277498" "0000632615" "0000292143" "0000648832" "0000292144" "0000648833" "0000305088" "0000668651" "0000316226" "0000698376" "0000321335" "0000704164" "0000328152" "0000712076" "0000328153" "0000712077" "0000328154" "0000712078" "0000413725" "0000871256" "0000415981" "0000873887" "0000416499" "0000874618" "0000429412" "0000908885" "0000434427" "0000920180" "0000435117" "0000921054" "0000439867" "0000935996" "0000441853" "0000939795" "0000451406" "0000985277" "0000451466" "0000985366" "0000451860" "0000985777" "0000451861" "0000985778" "0000451862" "0000985779" "0000451863" "0000985780" "0000451864" "0000985781" "0000451865" "0000985782" "0000451866" "0000985783" "0000451867" "0000985784" "0000451868" "0000985785" "0000451869" "0000985786" "0000451870" "0000985787" "0000451871" "0000985788" "0000453668" "0000988416" "0000454899" "0000989837" "0000454900" "0000989838" "0000454901" "0000989839" "0000454902" "0000989840" "0000454903" "0000989841" "0000454904" "0000989842" "0000454905" "0000989843" "0000454906" "0000989844" "0000454907" "0000989845" "0000454908" "0000989846" "0000454909" "0000989847" "0000454910" "0000989848" "0000454911" "0000989849" "0000454912" "0000989850" "0000454913" "0000989851" "0000454914" "0000989852" "0000454915" "0000989853" "0000454916" "0000989854" "0000456436" "0001010119" "0000456770" "0001011132" "0000456771" "0001011133" "0000456772" "0001011134" "0000457480" "0001011983" "0000465938" "0001029724" "0000468082" "0001047563" "0000468545" "0001048430" "0000468546" "0001048431" "0000468547" "0001048432" "0000469408" "0001049703" "0000472993" "0001061737" "0000472994" "0001061738"