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19q13.2CNV Type: Deletion-Duplication


Largest CNV size: 75115 bp

Statistics Box:
Number of Reports: 19


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
NA
Duplication
NA
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akkus_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
 1227
 Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
 
 57.13% Male
 667498
 0
 1
 1
 ben-david_11_ASD_discovery_cases
 Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
 17
 Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
 
 70.59% Male
 15000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 332185
 9
 14
 23
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 177673
 1
 0
 1
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 28580
 4
 0
 4
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 25877
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 62698
 2
 4
 6
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 54805
 2
 1
 3
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 23947
 1
 0
 1
 mazzonetto_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
 1363
 "95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
 
 63.17% Male
 550000
 1
 1
 2
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 29833
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 30362
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 141663
 3
 7
 10
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 97135
 6
 2
 8
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 34847
 1
 2
 3
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 75115
 132
 88
 220
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 25487
 0
 1
 1
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 7970
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 67964
 0
 5
 5

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 179784
 13
 7
 20
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 0
 0
 0
 0
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 54373
 2
 3
 5
 leblond_19_ASD_discovery_controls
 Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
 321
 Control
 N/A
 N/A
 12530
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 54805
 1
 1
 2
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 141663
 3
 0
 3
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 97135
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 74889
 99
 69
 168
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 67964
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akkus_24_ASD/DD/ID_discovery_cases
  Turkey
 Array SNP
  Affymetrix CytoScan Optima
 
 ThermoFisher ChAS v.3.1.
 
 ben-david_11_ASD_discovery_cases
 
 Array SNP
  Affymetrix 6.0
 Canary, PennCNV
 Affymetrix Genotyping Console
 
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 mazzonetto_24_ASD/DD/ID_discovery_cases
  Brazil
 Low-pass WGS
  Illumina NovaSeq 6000
 SNP-FASST2 (HMM)
 BioDiscovery NxClinical
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  leblond_19_ASD_discovery_controls
  Faroe Islands
  Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
  PennCNV, QuantiSNP
  XHMM
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  qPCR
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akkus_24_ASD/DD/ID_discovery_cases-case25C
  NA NA
 9 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 38258272
 38925769
  667498
 GRCh38
 Duplication
 No
  ben-david_11_ASD_discovery_cases-proband52
 NA
 NA
 ASD
 NA
 NA
 45762682
 45777854
  15000
 Unknown
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13174_1913
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40866570
 40982879
  116310
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13174_1913
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40709901
 40844134
  134234
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14074_1280
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40875635
  31502
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14121_2140
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40827379
 40877894
  50516
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14195_3190
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844990
 40875635
  30646
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14336_4500
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41503757
 41837784
  334028
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20006_1025001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40843827
 40875635
  31809
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20157_1658001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40875635
  31502
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3120_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40827379
 40880131
  52753
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3304_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40875635
  31502
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3435_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40875635
  31502
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4241_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38759668
 38816463
  56796
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5007_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40875635
  31502
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5051_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40835684
 40875635
  39952
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5213_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40877894
  33761
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5257_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844990
 40875596
  30607
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5295_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40844134
 40875635
  31502
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5311_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40542682
 40578957
  36276
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5311_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40681534
 40727393
  45860
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6199_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40835684
 40880131
  44448
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8432_204
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40942699
 41005272
  62574
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8457_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38759668
 38818234
  58567
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case9657_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40686512
 40727393
  40882
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU011103
 
 
 Autism
 
 
 44824665
 45002337
  177673
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1518
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 41355999
 41384578
  28580
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1925
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 41362173
 41363898
  1726
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case2988
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 41362173
 41363898
  1726
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case3017
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 41356751
 41384578
  27828
 Unknown
 Deletion
 No
  krumm_13_ASD_discovery_cases-case11724.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11724. SRS score of 84.
 Full-scale IQ (FSIQ) score of 59.
 39709196
 39735073
  25878
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11041.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38728995
 38791693
  62699
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11178.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 41808812
 41811237
  2426
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11765.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38448354
 38502970
  54617
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13578.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38869103
 38879310
  10208
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13662.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 40549188
 40578542
  29355
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13662.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 40683238
 40725439
  42202
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11041.p1
 NA
 M
 ASD
 NA
 NA
 38721309
 38772550
  51242
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11689.p1
 NA
 M
 ASD
 NA
 NA
 40832583
 40886510
  53928
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11765.p1
 NA
 M
 ASD
 NA
 NA
 38448453
 38503257
  54805
 GRCh38
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 40851095
 40875041
  23947
 GRCh38
 Deletion
 No
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530626
  NA NA
 
 M
 MCA
 Abnormal facial shape (HP:0001999)
 
 41616859
 42016858
  400000
 GRCh38
 Deletion
 No
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530977
  NA NA
 
 F
 Developmental delay
 Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
 
 42016859
 42566858
  550000
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case111903
 N/A
 F
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 38850542
 38880374
  29833
 GRCh38
 Duplication
 No
  nord_11_ASD_discovery_cases-306-1
 
 
 ASD
 
 
 44189701
 44220062
  30362
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5007_3
 NA
 M
 Autism
 Anxiety, language delay, no epilepsy, no dysmorphic features
 Below average IQ
 40844134
 40875635
  31502
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5295_4
 NA
 M
 ASD
 NA
 NA
 40844134
 40875635
  31502
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5311_3
 NA
 F
 ASD
 NA
 NA
 40542682
 40578957
  36276
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5311_3
 NA
 F
 ASD
 NA
 NA
 40681534
 40727393
  45860
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2344A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU078105; NDAR ID NDAR_INVJR714VEN)
 
 38869102
 38881493
  12392
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 41677410
 41808932
  131523
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 40007272
 40076211
  68940
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 41683783
 41720210
  36428
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3589A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1251302; NDAR ID NDAR_INVZT158JZC)
 
 40807482
 40850428
  42947
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4068A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1486301; NDAR ID NDAR_INVAN541FMF)
 
 40991304
 41007067
  15764
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI4559A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1575302; NDAR ID NDAR_INVAZ827NFA)
 
 40849816
 40991478
  141663
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 40807482
 40850428
  42947
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 40007272
 40076211
  68940
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 40007272
 40076211
  68940
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case100141
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 44233478
 44248736
  15259
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case126047
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 45752434
 45808780
  56347
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case133142
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 44046889
 44055206
  8318
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case168219
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 43592125
 43613092
  20968
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case61360
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 45711646
 45808780
  97135
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case86190
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 45740259
 45775969
  35711
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case86190
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 45881206
 45925927
  44722
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93736
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 43921825
 43932174
  10350
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 40848628
 40878673
  30046
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 40848628
 40878673
  30046
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-383
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 40843827
 40878673
  34847
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11008.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 40844134
 40880131
  35998
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11012.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11014.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11025.p1
 4.6
 F
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
 38381994
 38404364
  22371
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11028.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
 40850149
 40878673
  28525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11040.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 67; verbal IQ, 64
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11048.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11052.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
 40844134
 40886980
  42847
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11053.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11063.p1
 9.3
 M
 Aspergers
 NA
 Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11066.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
 40850149
 40887855
  37707
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 40850149
 40880131
  29983
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11083.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11101.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11107.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11110.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
 40844990
 40873243
  28254
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 40844134
 40873243
  29110
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 40866570
 40875635
  9066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 40850094
 40882670
  32577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 40844134
 40875635
  31502
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11150.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
 40844134
 40875635
  31502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11154.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
 40850149
 40873243
  23095
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11178.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
 41802009
 41818506
  16498
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11190.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
 40844134
 40873243
  29110
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11218.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11223.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11224.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11232.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
 40850149
 40878673
  28525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11242.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 40850149
 40873243
  23095
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11254.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
 40844134
 40877894
  33761
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11257.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11258.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11264.p1
 10.7
 F
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11270.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11275.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
 40866570
 40875635
  9066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 40856268
 40875635
  19368
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11284.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11291.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11294.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
 40850094
 40882670
  32577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11296.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11300.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11329.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 40856268
 40878673
  22406
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11346.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11348.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
 40827379
 40880131
  52753
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11352.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
 40844134
 40866570
  22437
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11355.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11359.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
 40850149
 40873243
  23095
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11371.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
 40835684
 40859190
  23507
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11372.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11374.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
 40850149
 40880131
  29983
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11379.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 65; verbal IQ, 78
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11381.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 40856268
 40875635
  19368
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11393.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
 40856268
 40878673
  22406
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11413.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
 40845362
 40880131
  34770
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11441.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11444.p1
 16.3
 F
 Aspergers
 NA
 Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
 39196035
 39271150
  75116
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11452.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11456.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11468.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11483.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
 40844134
 40875635
  31502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 40848628
 40880131
  31504
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 40846358
 40873243
  26886
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11497.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11498.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11501.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
 40827379
 40880131
  52753
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11511.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11541.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
 40866570
 40875635
  9066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11546.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
 40856268
 40878673
  22406
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11549.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
 40850149
 40886980
  36832
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 40844134
 40873243
  29110
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11571.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
 40857396
 40875635
  18240
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11590.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11610.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11616.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11627.p1
 5.7
 M
 ASD
 NA
 Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11642.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11657.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 40848628
 40878673
  30046
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11681.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
 40844990
 40875635
  30646
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11691.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 40856268
 40875596
  19329
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11718.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
 40848628
 40882670
  34043
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 40856268
 40873243
  16976
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11734.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 40850846
 40878673
  27828
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 40857396
 40875635
  18240
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 38448427
 38501538
  53112
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11766.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
 40856268
 40882670
  26403
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11793.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11818.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
 40989728
 41002839
  13112
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 40856268
 40882670
  26403
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11845.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
 40850846
 40878673
  27828
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11868.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11878.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11892.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
 40866570
 40878673
  12104
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11901.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11910.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 113
 40848628
 40878673
  30046
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 40844990
 40875635
  30646
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11970.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 150; non-verbal IQ, 159; verbal IQ, 130
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11996.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
 40844990
 40873243
  28254
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12003.p1
 4.3
 M
 ASD
 NA
 Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
 40873243
 40875635
  2393
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12028.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12044.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 40848628
 40878673
  30046
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12053.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
 40856268
 40878673
  22406
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12066.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12071.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12072.p1
 15.6
 F
 Autism
 NA
 Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
 40848628
 40878673
  30046
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12074.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
 40850094
 40886980
  36887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12081.p1
 12.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12087.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12100.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12108.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12115.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12120.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12149.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
 40856268
 40877923
  21656
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12153.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 40850149
 40877923
  27775
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12208.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12215.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12232.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 40850094
 40873243
  23150
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12247.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 111; verbal IQ, 104
 40850414
 40873243
  22830
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12315.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12325.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
 40850094
 40882670
  32577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12331.p1
 12.3
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 40846358
 40875635
  29278
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12354.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12356.p1
 5.8
 M
 Aspergers
 NA
 Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
 40866570
 40875635
  9066
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12362.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
 40856268
 40880131
  23864
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12372.p1
 15.7
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12377.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 67; verbal IQ, 93
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12380.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 80
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12438.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 40850094
 40882670
  32577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 40856268
 40878673
  22406
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 41752698
 41776424
  23727
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12501.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 40850094
 40886980
  36887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7.2
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 40160017
 40175480
  15464
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12540.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 40104068
 40135887
  31820
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12581.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 40873243
 40875635
  2393
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12592.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 119; verbal IQ, 106
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 42401493
 42402231
  739
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12616.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
 40856268
 40878673
  22406
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12617.p1
 10.8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
 40843827
 40875635
  31809
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12624.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
 40848628
 40875635
  27008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12631.p1
 17.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 76
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12634.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
 40844134
 40875635
  31502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12641.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12643.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
 42401630
 42402231
  602
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12648.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
 40844990
 40859190
  14201
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12657.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 77; verbal IQ, 89
 40848628
 40882670
  34043
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12669.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12690.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
 40856268
 40878673
  22406
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 40848628
 40875635
  27008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12695.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
 40850094
 40875635
  25542
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12703.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12735.p1
 10.7
 M
 ASD
 NA
 Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
 40850094
 40882670
  32577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 40844990
 40873243
  28254
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12749.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12759.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
 40875596
 40875635
  40
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12787.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12790.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 40848628
 40875635
  27008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 40835684
 40875635
  39952
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12805.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12859.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
 40850094
 40886980
  36887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12908.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
 40848628
 40875635
  27008
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13005.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
 40843827
 40866570
  22744
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 40856268
 40878673
  22406
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6.7
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 40859023
 40875635
  16613
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13080.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13082.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13093.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
 40850094
 40875635
  25542
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13159.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
 40875596
 40875635
  40
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 40866570
 40875635
  9066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 40843827
 40875635
  31809
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13216.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
 40866570
 40878673
  12104
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 40856268
 40882670
  26403
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13294.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 40856268
 40882670
  26403
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13303.p1
 5.6
 F
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
 40848628
 40873243
  24616
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 40850094
 40878673
  28580
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13388.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
 40856268
 40878673
  22406
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 40850149
 40875635
  25487
 GRCh38
 Duplication
 No
  woodbury-smith_14_ASD_discovery_cases-case19
 N/A
 M
 ASD
 Family history: broad autism phenotype (BAP)-defined father.
 
 42758444
 42766413
  7970
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case551
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 38767337
 38817550
  50214
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case552
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 40945747
 41013710
  67964
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case553
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 40945747
 41013710
  67964
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case554
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 42776064
 42790226
  14163
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case555
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 42776064
 42790226
  14163
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036005502_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020014_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020873_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023380_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB315954_1007852594
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB334576_1007843533
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844990
  40875635
  30646
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB791125_1007873652
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB874843_1007854362
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40878673
  34540
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB881240_1007875262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB965781_1007874892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40835684
  40875635
  39952
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900014_900014
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41555937
  41677422
  121486
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900278_900278
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844990
  40875635
  30646
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900516_900516
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40843827
  40875635
  31809
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900863_900863
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844990
  40875635
  30646
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40683186
  40727393
  44208
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40844134
  40875635
  31502
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902440_902440
  N/A
  N/A
  Control
  No previous psychiatric history
 
  39640073
  39819857
  179785
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902666_902666
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40843869
  40875635
  31767
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902781_902781
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40832018
  40882670
  50653
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40843827
  40877894
  34068
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11765.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38448354
  38502727
  54374
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12932.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  39731379
  39737997
  6619
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13720.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38869103
  38881491
  12389
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14260.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  40549188
  40578542
  29355
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14260.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  40682727
  40725439
  42713
  GRCh38
  Duplication
  Yes
  leblond_19_ASD_discovery_controls-controlPN400343
  N/A
  F
  Control
  Non-autism control
 
  38869060
  38881591
  12532
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11041.s1
  NA
  M
  Control
  NA
  NA
  38721309
  38772550
  51242
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11765.s1
  NA
  F
  Control
  NA
  NA
  38448453
  38503257
  54805
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C26516A
  N/A
  M
  Control
  NIMH Control (NIMH ID 74826)
 
  41755637
  41766261
  10625
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control04C29073A
  N/A
  F
  Control
  NIMH Control (NIMH ID 24321)
 
  40849816
  40991478
  141663
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C43961
  N/A
  M
  Control
  NIMH Control (NIMH ID 25347)
 
  40849816
  40991478
  141663
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11009.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40878673
  28525
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11013.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11052.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11053.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40873243
  29110
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11085.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40873243
  16976
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11110.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  40844990
  40873243
  28254
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11110.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40880131
  35998
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11132.s1
  10.7
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40873243
  23095
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11135.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  39248147
  39255579
  7433
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11142.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11150.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40875635
  25487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11154.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40880131
  29983
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11164.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11167.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11176.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11187.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40875635
  31502
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11219.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11224.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11239.s1
  15.1
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40875635
  25487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11251.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11254.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40877894
  33761
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11274.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11275.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11277.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40875635
  19368
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11303.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40880131
  29983
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40875635
  25542
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  40856268
  40878673
  22406
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11330.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11333.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11334.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  40844134
  40873243
  29110
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40880131
  4536
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11355.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11356.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40873243
  23095
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11359.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40873243
  23095
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11375.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11376.s1
  23.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11383.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11390.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40875635
  19368
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11393.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  40850094
  40878673
  28580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11397.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40901438
  51290
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11412.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40866570
  22437
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11414.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11424.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40878673
  28525
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11444.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  39196261
  39271150
  74890
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11446.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11456.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11466.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11476.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40875635
  31502
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11480.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11519.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11521.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11523.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11530.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40886980
  36832
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11532.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11540.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11544.s1
  17.7
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40880131
  29983
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11554.s1
  4.6
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40873243
  23095
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40875596
  31463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  40844134
  40866570
  22437
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  40850149
  40878673
  28525
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11634.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  40850846
  40880131
  29286
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11642.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11653.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  40844990
  40873243
  28254
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11665.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  40850094
  40882670
  32577
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  40850846
  40873243
  22398
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  40850414
  40882670
  32257
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  40850414
  40878673
  28260
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11718.s1
  23.6
  F
  Control (matched sibling)
  NA
  NA
  40850414
  40882670
  32257
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40873243
  16976
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11765.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40882670
  26403
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11765.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  38448427
  38501538
  53112
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  40835684
  40875635
  39952
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11828.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40882670
  26403
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11845.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  40850414
  40878673
  28260
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11868.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40878673
  28580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11872.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11901.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11905.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11918.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11920.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11942.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11963.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  41503757
  41519153
  15397
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  40850149
  40880131
  29983
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12020.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12048.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  40848628
  40873243
  24616
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40882670
  26403
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12078.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  40850846
  40878673
  27828
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12096.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12115.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  40850094
  40878673
  28580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  40846358
  40873243
  26886
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12120.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40878673
  28580
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12197.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  40850414
  40880131
  29718
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12219.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  40850414
  40857993
  7580
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12272.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40873243
  23150
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12303.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12325.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40882670
  32577
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  42553096
  42571152
  18057
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12346.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12351.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12360.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40878673
  22406
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40891756
  41663
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40873243
  16976
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12377.s1
  20.6
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12430.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  39035272
  39053594
  18323
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12437.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12501.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  40850094
  40873243
  23150
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12532.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40875635
  19368
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12572.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  40104068
  40135887
  31820
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12575.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12588.s1
  5.4
  M
  Control (matched sibling)
  NA
  NA
  42402115
  42402231
  117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12588.s1
  5.4
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12616.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  40856268
  40878673
  22406
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12617.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  40843827
  40866570
  22744
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  42401630
  42402231
  602
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  40856268
  40877923
  21656
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12624.s1
  4.1
  F
  Control (matched sibling)
  NA
  NA
  40843827
  40875635
  31809
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12648.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40866570
  16477
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  42401493
  42402231
  739
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12682.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  40848628
  40875635
  27008
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12703.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12715.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40878673
  3078
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12784.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12792.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  40843827
  40875635
  31809
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12810.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  40850094
  40880131
  30038
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12879.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12894.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12908.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  40848628
  40875635
  27008
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13077.s1
  13.9
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40875635
  19368
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13169.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  40875596
  40875635
  40
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  40843827
  40875635
  31809
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13216.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  40866570
  40875635
  9066
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  40856268
  40882670
  26403
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  40850094
  40878673
  28580
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akkus_24_ASD/DD/ID_discovery_cases-case25C
 
 
 Unknown
 
 
 ACTN4,ECH1,EIF3K,SARS2,CATSPERG,C19orf33,YIF1B,RINL,RASGRP4,FAM98C,CAPN12,GGN,HNRNPL,SPRED3,CCER2,LGALS7B,LGALS7,LGALS4,NFKBIB,RYR1,PSMD8,MAP4K1-AS1,RNU6-140P,KCNK6,MAP4K1,SPINT2,SIRT2
 
 ben-david_11_ASD_discovery_cases-proband52
 
 
 Unknown
 Unknown
 Unknown
 SPTBN4, SHKBP1
 
 engchuan_15_ASD_discovery_cases-case13174_1913
 
 
 Unknown
 
 
 CYP2A7,CYP2B7P,CYP2G1P
 
 engchuan_15_ASD_discovery_cases-case13174_1913
 
 
 Unknown
 
 
 MIA,EGLN2,CYP2T1P,CYP2F2P,COQ8B,ITPKC,C19orf54,MIA-RAB4B,RAB4B,RAB4B-EGLN2,CYP2A6,SNRPA
 
 engchuan_15_ASD_discovery_cases-case14074_1280
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case14121_2140
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case14195_3190
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case14336_4500
 
 
 Unknown
 
 
 PLEKHA3P1,LINC01480,CEACAMP3,DNAJC19P2,CEACAM4,DNAJC19P3,CEACAM3,HNRNPA1P52,LYPD4,CEACAM5,CEACAM6,CEACAM21,CEACAM7
 
 engchuan_15_ASD_discovery_cases-case20006_1025001
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case20157_1658001
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case3120_4
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case3304_3
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case3435_3
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case4241_1
 
 
 Unknown
 
 
 LGALS7,LGALS7B,RNU6-140P,LGALS4,CAPN12,ECH1
 
 engchuan_15_ASD_discovery_cases-case5007_3
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case5051_3
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case5213_3
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case5257_3
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case5295_4
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case5311_3
 
 
 Unknown
 
 
 SHKBP1,SPTBN4
 
 engchuan_15_ASD_discovery_cases-case5311_3
 
 
 Unknown
 
 
 RNU6-195P,NUMBL,COQ8B,ITPKC
 
 engchuan_15_ASD_discovery_cases-case6199_4
 
 
 Unknown
 
 
 CYP2A6,CYP2A7
 
 engchuan_15_ASD_discovery_cases-case8432_204
 
 
 Unknown
 
 
 CYP2B7P,CYP2B6
 
 engchuan_15_ASD_discovery_cases-case8457_202
 
 
 Unknown
 
 
 LGALS7,LGALS7B,RNU6-140P,LGALS4,CAPN12,ECH1
 
 engchuan_15_ASD_discovery_cases-case9657_201
 
 
 Unknown
 
 
 RNU6-195P,NUMBL,COQ8B,ITPKC
 
 gai_11_ASD_replication_cases-AU011103
 
 
 Inherited
 
 
 LOC100129935, LOC400696, LGALS14, CLC, LEUTX
 
 kanduri_15_ASD_discovery_cases-case1518
 
 
 Paternal
 Unknown
 Unknown
 CYP2A6,CYP2A7
 
 kanduri_15_ASD_discovery_cases-case1925
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, CYP2A6(dist=5821),CYP2A7(dist=17446)
 
 kanduri_15_ASD_discovery_cases-case2988
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, CYP2A6(dist=5821),CYP2A7(dist=17446)
 
 kanduri_15_ASD_discovery_cases-case3017
 
 
 Maternal
 Unknown
 Unknown
 CYP2A7
 
 krumm_13_ASD_discovery_cases-case11724.p1
 
 
 Paternal
 Simplex
 Segregated
 LGALS14,CLC
 
 krumm_15_ASD_discovery_cases-case11041.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 LGALS7,LGALS7B,CAPN12,ACTN4
 
 krumm_15_ASD_discovery_cases-case11178.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 CEACAM3
 
 krumm_15_ASD_discovery_cases-case11765.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RYR1
 
 krumm_15_ASD_discovery_cases-case13578.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 RINL,SIRT2
 
 krumm_15_ASD_discovery_cases-case13662.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SHKBP1,SPTBN4
 
 krumm_15_ASD_discovery_cases-case13662.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RNU6-195P,NUMBL,COQ8B,ITPKC
 
 levy_11_ASD_discovery_cases-11041.p1
 
 
 Maternal
 Simplex
 Not segregated
 LGALS7,CAPN12,ACTN4
 
 levy_11_ASD_discovery_cases-11689.p1
 
 
 Maternal
 Simplex
 Segregated
 CYP2A6,CYP2A7
 
 levy_11_ASD_discovery_cases-11765.p1
 
 
 Paternal
 Simplex
 Not segregated
 RYR1
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530626
 
 
 Unknown
 
 
 CEACAM7,CEACAM5,CEACAM3,CEACAM4,CD79A,ATP1A3,DMRTC2,LYPD4,GRIK5,ERFL,HNRNPA1P52,CEACAM6,DNAJC19P3,RPS19,MIR6797,ARHGEF1,RABAC1
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530977
 
 
 Unknown
 
 
 CEACAM1,CEACAMP2,MEGF8,ERF,ZNF574,CNFN,ZNF526,DEDD2,GRIK5,GSK3A,TMEM145,CXCL17,PRR19,PAFAH1B3,LIPE,MIR4323,POU2F2-AS1,LIPE-AS1,POU2F2,MIR8077,RNU4-60P,CIC
 
 mosca_16_DCD_discovery_cases-case111903
 
 
 Unknown
 Unknown
 Unknown
 RINL,HNRNPL,SIRT2
 
 nord_11_ASD_discovery_cases-306-1
 
 
 Paternal
 
 
 FBXO27
 
 pinto_10_ASD_discovery_cases-case5007_3
 Agilent1M
 
 maternal
 Multiplex
 NA
 CYP2A6,CYP2A7
 
 pinto_10_ASD_discovery_cases-case5295_4
 Agilent1M
 
 maternal
 NA
 NA
 CYP2A6,CYP2A7
 
 pinto_10_ASD_discovery_cases-case5311_3
 Agilent1M
 
 pcnv-paternal
 NA
 NA
 SHKBP1,SPTBN4
 
 pinto_10_ASD_discovery_cases-case5311_3
 Agilent1M
 
 paternal
 NA
 NA
 RNU6-195P,NUMBL,COQ8B,ITPKC
 
 poultney_13_ASD_discovery_cases-case01HI2344A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RINL,SIRT2
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CEACAM3,CEACAM5,CEACAM6,CEACAM7
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF546,ZNF780B,ZNF780A
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CEACAM5,CEACAM7
 
 poultney_13_ASD_discovery_cases-case05HI3589A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 EGLN2,CYP2T1P,CYP2F2P,RAB4B-EGLN2,CYP2A6
 
 poultney_13_ASD_discovery_cases-case05HI4068A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CYP2B6
 
 poultney_13_ASD_discovery_cases-case05HI4559A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CYP2A6,CYP2A7,CYP2B7P,CYP2B6,CYP2G1P
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 EGLN2,CYP2T1P,CYP2F2P,RAB4B-EGLN2,CYP2A6
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF546,ZNF780B,ZNF780A
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF546,ZNF780B,ZNF780A
 
 prasad_12_ASD_discovery_cases-case100141
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case126047
 
 
 Unknown
 Unknown
 Unknown
 SPTBN4,SHKBP1,LTBP4
 
 prasad_12_ASD_discovery_cases-case133142
 
 
 Unknown
 Unknown
 Unknown
 RINL
 
 prasad_12_ASD_discovery_cases-case168219
 
 
 Unknown
 Unknown
 Unknown
 RASGRP4
 
 prasad_12_ASD_discovery_cases-case61360
 
 
 Unknown
 Unknown
 Unknown
 SPTBN4,SHKBP1,LTBP4
 
 prasad_12_ASD_discovery_cases-case86190
 
 
 Unknown
 Unknown
 Unknown
 SPTBN4,SHKBP1
 
 prasad_12_ASD_discovery_cases-case86190
 
 
 Unknown
 Unknown
 Unknown
 ADCK4,ITPKC,NUMBL
 
 prasad_12_ASD_discovery_cases-case93736
 
 
 Unknown
 Unknown
 Unknown
 CAPN12
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CYP2A6,CYP2A7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CYP2A6,CYP2A7
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-383
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11008.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11012.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11014.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11025.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PSMD8,SPRED3,GGN,FAM98C
 
 sanders_11_ASD_discovery_cases-11028.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11039.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11040.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11063.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11066.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11083.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11101.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11107.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11110.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11150.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11154.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11178.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CEACAM3
 
 sanders_11_ASD_discovery_cases-11190.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11218.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11223.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11232.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11242.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11254.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11257.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11258.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11264.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11270.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11275.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11291.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11294.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11329.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11346.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11348.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11352.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11355.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11359.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11371.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11372.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11374.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11379.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11381.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11393.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11413.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11441.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NCCRP1,SYCN,IFNL3P1,IFNL3,IFNL4,MSRB1P1,IFNL4P1,IFNL2
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11452.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11456.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11468.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11483.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11497.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11498.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11501.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11511.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11541.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11546.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11549.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-11571.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11590.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11610.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11616.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11627.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11642.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11657.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11691.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11715.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11718.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11734.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RYR1
 
 sanders_11_ASD_discovery_cases-11766.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11793.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11818.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2B6
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11845.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11868.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11878.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11892.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11901.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11910.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-11970.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-11996.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A6
 
 sanders_11_ASD_discovery_cases-12003.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12028.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12044.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12066.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12071.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12072.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12074.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12081.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12087.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12100.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12108.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12120.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12149.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12153.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12208.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12215.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12232.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-12247.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-12315.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12325.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12354.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12356.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12362.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12372.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12377.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12380.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12438.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CEACAM6
 
 sanders_11_ASD_discovery_cases-12501.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12540.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 VN1R96P
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12592.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Both parents
 Simplex (trio)
 NA
 LIPE,LIPE-AS1
 
 sanders_11_ASD_discovery_cases-12616.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12617.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12624.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12631.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12634.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12641.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12643.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 LIPE,LIPE-AS1
 
 sanders_11_ASD_discovery_cases-12648.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-12657.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12669.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12690.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12695.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12703.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12735.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-12749.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12759.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12787.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12790.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12794.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12805.p1
 
 
 Both parents
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12859.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12908.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13005.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13080.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13082.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13093.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-13159.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-13216.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13294.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CYP2A7
 
 sanders_11_ASD_discovery_cases-13303.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP2A6,CYP2A7
 
 sanders_11_ASD_discovery_cases-13388.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP2A7
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 CYP2A6,CYP2A7
 
 woodbury-smith_14_ASD_discovery_cases-case19
 
 
 Paternal
 Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
 Unknown
 PSG8
 
 yin_16_ASD_discovery_cases-case551
 
 
 Unknown
 Unknown
 Unknown
 LGALS7,LGALS7B,RNU6-140P,LGALS4,CAPN12,ECH1
 
 yin_16_ASD_discovery_cases-case552
 
 
 Unknown
 Unknown
 Unknown
 CYP2B7P,CYP2B6
 
 yin_16_ASD_discovery_cases-case553
 
 
 Unknown
 Unknown
 Unknown
 CYP2B7P,CYP2B6
 
 yin_16_ASD_discovery_cases-case554
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8
 
 yin_16_ASD_discovery_cases-case555
 
 
 Unknown
 Unknown
 Unknown
 CEACAMP6,PSG8
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036005502_
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-control110036020014_
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-control110036020873_
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-control110036023380_
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlB315954_1007852594
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlB334576_1007843533
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlB881240_1007875262
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlB965781_1007874892
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_900014_900014
 
 
  Unknown
 
 
  CEACAMP3,DNAJC19P2,CEACAM4,DNAJC19P3,CEACAM21,CEACAM7
 
engchuan_15_ASD_discovery_controls-controlHABC_900278_900278
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_900516_900516
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_900863_900863
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
 
 
  Unknown
 
 
  RNU6-195P,NUMBL,COQ8B,ITPKC
 
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_902440_902440
 
 
  Unknown
 
 
  RPS29P30,LGALS16,RPS29P27,LGALS14,CLC,LGALS17A,LEUTX
 
engchuan_15_ASD_discovery_controls-controlHABC_902666_902666
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_902781_902781
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
 
 
  Unknown
 
 
  CYP2A6,CYP2A7
 
krumm_15_ASD_discovery_controls-control11765.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RYR1
 
krumm_15_ASD_discovery_controls-control12932.s1
  1M-Duov3
 
  Paternal
 
 
  CLC
 
krumm_15_ASD_discovery_controls-control13720.s1
  Omni2.5-4v1
 
  Maternal
 
 
  RINL,SIRT2
 
krumm_15_ASD_discovery_controls-control14260.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SHKBP1,SPTBN4
 
krumm_15_ASD_discovery_controls-control14260.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RNU6-195P,NUMBL,COQ8B,ITPKC
 
leblond_19_ASD_discovery_controls-controlPN400343
 
 
  Unknown
 
 
  RINL,SIRT2
 
levy_11_ASD_discovery_controls-11041.s1
 
 
  Maternal
  Simplex
  NA
  LGALS7,CAPN12,ACTN4
 
levy_11_ASD_discovery_controls-11765.s1
 
 
  Paternal
  Simplex
  NA
  RYR1
 
poultney_13_ASD_discovery_controls-control04C26516A
  qPCR
 
  Unknown
 
 
  CEACAM6
 
poultney_13_ASD_discovery_controls-control04C29073A
 
 
  Unknown
 
 
  CYP2A6,CYP2A7,CYP2B7P,CYP2B6,CYP2G1P
 
poultney_13_ASD_discovery_controls-control05C43961
 
 
  Unknown
 
 
  CYP2A6,CYP2A7,CYP2B7P,CYP2B6,CYP2G1P
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11009.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11013.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11052.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11053.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11085.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11110.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11110.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11132.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11135.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IFNL4,MSRB1P1
 
sanders_11_ASD_discovery_controls-11142.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11150.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11154.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11164.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11167.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11187.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11219.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11239.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11251.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11254.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11274.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11275.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11277.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11303.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11330.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11333.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11334.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11355.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11356.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11359.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11375.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11376.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11383.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11390.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11393.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11397.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7,CYP2G1P
 
sanders_11_ASD_discovery_controls-11412.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11414.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11424.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11444.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NCCRP1,SYCN,IFNL3P1,IFNL3,IFNL4,MSRB1P1,IFNL4P1,IFNL2
 
sanders_11_ASD_discovery_controls-11446.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11456.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11466.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11476.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11480.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11519.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11521.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11523.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11530.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11532.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11540.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11544.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11554.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11634.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11642.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11653.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-11665.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11718.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11765.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11765.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RYR1
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11828.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11845.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11868.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-11872.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11901.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11905.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11918.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11920.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11942.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-11963.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12020.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12048.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12078.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12096.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12115.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12120.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12197.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12219.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12272.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12303.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12325.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CEACAMP2,CEACAM1,LIPE-AS1
 
sanders_11_ASD_discovery_controls-12346.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12351.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12360.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7,CYP2G1P
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12377.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12430.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12437.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12501.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12532.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12572.s1
 
 
  Maternal
  Simplex (quad)
  NA
  VN1R96P
 
sanders_11_ASD_discovery_controls-12575.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12588.s1
 
 
  Both parents
  Simplex (quad)
  NA
  LIPE,LIPE-AS1
 
sanders_11_ASD_discovery_controls-12588.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12616.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12617.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LIPE,LIPE-AS1
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12624.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12648.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Both parents
  Simplex (quad)
  NA
  LIPE,LIPE-AS1
 
sanders_11_ASD_discovery_controls-12682.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12703.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12715.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12784.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12792.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12810.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12879.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12894.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-12908.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13077.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13169.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 
sanders_11_ASD_discovery_controls-13216.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CYP2A7
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP2A6,CYP2A7
 

No Animal Model Data Available
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