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Results for "Kim2024"

Variant Events: 46773

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
BRD4     IBS-ASD-18603-blood-wgs-ILLUMINAchr19:
15390761-15390761
CTintronicDe novo--Kim2024 G
BRD4     IBS-ASD-17053-blood-wgs-ILLUMINAchr19:
15408813-15408813
CAintergenicDe novo--Kim2024 G
BRD4     IBS-ASD-17673-blood-wgs-ILLUMINAchr19:
15412005-15412005
CTintergenicDe novo--Kim2024 G
AKAP8     IBS-ASD-6773-blood-wgs-ILLUMINAchr19:
15477205-15477205
AGintronicDe novo--Kim2024 G
AKAP8L     IBS-ASD-17513-blood-wgs-ILLUMINAchr19:
15520533-15520533
GCintronicDe novo--Kim2024 G
WIZ     IBS-ASD-16113-blood-wgs-ILLUMINAchr19:
15542629-15542629
AGintronicDe novo--Kim2024 G
PGLYRP2     IBS-ASD-30183-blood-wgs-ILLUMINAchr19:
15588616-15588616
TCintronicDe novo--Kim2024 G
CYP4F3     IBS-ASD-6593-blood-wgs-ILLUMINAchr19:
15765957-15765957
ATintronicDe novo--Kim2024 G
SLC1A6     IBS-ASD-5243-blood-wgs-ILLUMINAchr19:
15071094-15071098
ATGAGAintronicDe novo--Kim2024 G
CCDC105     IBS-ASD-29773-blood-wgs-ILLUMINAchr19:
15128288-15128288
GAintronicDe novo--Kim2024 G
CASP14     IBS-ASD-17703-blood-wgs-ILLUMINAchr19:
15173248-15173248
CGintergenicDe novo--Kim2024 G
CASP14     IBS-ASD-5363-blood-wgs-ILLUMINAchr19:
15191711-15191711
CTintergenicDe novo--Kim2024 G
OR1I1     IBS-ASD-7043-blood-wgs-ILLUMINAchr19:
15200521-15200521
AGintergenicDe novo--Kim2024 G
OR1I1     IBS-ASD-17933-blood-wgs-ILLUMINAchr19:
15209042-15209042
TAintergenicDe novo--Kim2024 G
NOTCH3     IBS-ASD-16023-blood-wgs-ILLUMINAchr19:
15296639-15296639
GAintronicDe novo--Kim2024 G
BRD4     IBS-ASD-5363-blood-wgs-ILLUMINAchr19:
15363080-15363080
GCintronicDe novo--Kim2024 G
OR10H4     IBS-ASD-16633-blood-wgs-ILLUMINAchr19:
16065081-16065081
CAintergenicDe novo--Kim2024 G
LINC00661     IBS-ASD-5333-blood-wgs-ILLUMINAchr19:
16129080-16129080
GAncRNA_intronicDe novo--Kim2024 G
EPS15L1     IBS-ASD-17413-blood-wgs-ILLUMINAchr19:
16500004-16500004
CTintronicDe novo--Kim2024 G
EPS15L1     IBS-ASD-16443-blood-wgs-ILLUMINAchr19:
16524902-16524902
GAintronicDe novo--Kim2024 G
CHERP     IBS-ASD-17983-blood-wgs-ILLUMINAchr19:
16645397-16645397
CTintronicDe novo--Kim2024 G
SLC35E1     IBS-ASD-6083-blood-wgs-ILLUMINAchr19:
16673791-16673791
CTintronicDe novo--Kim2024 G
MED26     IBS-ASD-17113-blood-wgs-ILLUMINAchr19:
16707682-16707682
CTintronicDe novo--Kim2024 G
TMEM38A     IBS-ASD-12783-blood-wgs-ILLUMINAchr19:
16803724-16803724
CTintergenicDe novo--Kim2024 G
CYP4F3     IBS-ASD-9493-blood-wgs-ILLUMINAchr19:
15766475-15766475
GCintronicDe novo--Kim2024 G
CYP4F3     IBS-ASD-9283-blood-wgs-ILLUMINAchr19:
15773580-15773580
GCintergenicDe novo--Kim2024 G
CYP4F3     IBS-ASD-5543-blood-wgs-ILLUMINAchr19:
15782357-15782357
TGintergenicDe novo--Kim2024 G
CYP4F12     IBS-ASD-18863-blood-wgs-ILLUMINAchr19:
15801108-15801108
TCintronicDe novo--Kim2024 G
CYP4F12     IBS-ASD-19123-blood-wgs-ILLUMINAchr19:
15805568-15805568
CTintronicDe novo--Kim2024 G
OR10H1     IBS-ASD-18943-blood-wgs-ILLUMINAchr19:
15918958-15918958
TCupstreamDe novo--Kim2024 G
UCA1     IBS-ASD-19013-blood-wgs-ILLUMINAchr19:
15942146-15942146
GAncRNA_exonicDe novo--Kim2024 G
CYP4F11     IBS-ASD-29873-blood-wgs-ILLUMINAchr19:
16042335-16042335
CCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGintronicDe novo--Kim2024 G
SLC27A1     IBS-ASD-12893-blood-wgs-ILLUMINAchr19:
17587053-17587053
AGintronicDe novo--Kim2024 G
FAM129C     IBS-ASD-13283-blood-wgs-ILLUMINAchr19:
17633906-17633906
GAupstreamDe novo--Kim2024 G
FAM129C     IBS-ASD-9573-blood-wgs-ILLUMINAchr19:
17651036-17651036
CTintronicDe novo--Kim2024 G
UNC13A     IBS-ASD-7103-blood-wgs-ILLUMINAchr19:
17747514-17747514
CTintronicDe novo--Kim2024 G
RPL18A     IBS-ASD-29443-blood-wgs-ILLUMINAchr19:
17977160-17977164
CCATTCintergenicDe novo--Kim2024 G
CCDC124     IBS-ASD-9863-blood-wgs-ILLUMINAchr19:
18044506-18044506
CTintronicDe novo--Kim2024 G
ARRDC2     IBS-ASD-16073-blood-wgs-ILLUMINAchr19:
18146496-18146496
GTintergenicDe novo--Kim2024 G
MIR3188     IBS-ASD-13054-blood-wgs-ILLUMINAchr19:
18412085-18412085
GAintergenicDe novo--Kim2024 G
SIN3B     IBS-ASD-17543-blood-wgs-ILLUMINAchr19:
16965436-16965436
CGintronicDe novo--Kim2024 G
CPAMD8     IBS-ASD-17993-blood-wgs-ILLUMINAchr19:
17002948-17002948
CTdownstreamDe novo--Kim2024 G
CPAMD8     IBS-ASD-9793-blood-wgs-ILLUMINAchr19:
17047432-17047432
GAintronicDe novo--Kim2024 G
CPAMD8     IBS-ASD-12783-blood-wgs-ILLUMINAchr19:
17099851-17099851
GAintronicDe novo--Kim2024 G
MYO9B     IBS-ASD-29883-blood-wgs-ILLUMINAchr19:
17268456-17268456
GAintronicDe novo--Kim2024 G
BABAM1     IBS-ASD-19983-blood-wgs-ILLUMINAchr19:
17386870-17386870
GAintronicDe novo--Kim2024 G
ABHD8     IBS-ASD-30383-blood-wgs-ILLUMINAchr19:
17407622-17407622
GAintronicDe novo--Kim2024 G
PLVAP     IBS-ASD-29543-blood-wgs-ILLUMINAchr19:
17496122-17496122
CTintergenicDe novo--Kim2024 G
CRTC1     IBS-ASD-19953-blood-wgs-ILLUMINAchr19:
18856761-18856761
CAexonicDe novononsynonymous SNVNM_015321
NM_001098482
c.C372A
c.C420A
p.H124Q
p.H140Q
13.79-Kim2024 G
COMP     IBS-ASD-6953-blood-wgs-ILLUMINAchr19:
18902936-18902936
CTupstreamDe novo--Kim2024 G
COMP     IBS-ASD-18513-blood-wgs-ILLUMINAchr19:
18909609-18909609
GTintergenicDe novo--Kim2024 G
COMP     IBS-ASD-9733-blood-wgs-ILLUMINAchr19:
18927335-18927335
GAintergenicDe novo--Kim2024 G
CERS1     IBS-ASD-16293-blood-wgs-ILLUMINAchr19:
19002929-19002929
ATintronicDe novo--Kim2024 G
SUGP2     IBS-ASD-29633-blood-wgs-ILLUMINAchr19:
19109604-19109604
GAintronicDe novo--Kim2024 G
SLC25A42     IBS-ASD-29553-blood-wgs-ILLUMINAchr19:
19206351-19206351
GAintronicDe novo--Kim2024 G
SLC25A42     IBS-ASD-30273-blood-wgs-ILLUMINAchr19:
19216541-19216541
GGGCCCCintronicDe novo--Kim2024 G
LSM4     IBS-ASD-9533-blood-wgs-ILLUMINAchr19:
18448871-18448871
GAintergenicDe novo--Kim2024 G
PGPEP1     IBS-ASD-19693-blood-wgs-ILLUMINAchr19:
18459146-18459146
AGintronicDe novo--Kim2024 G
PGPEP1     IBS-ASD-17393-blood-wgs-ILLUMINAchr19:
18467656-18467656
CTintronicDe novo--Kim2024 G
ELL     IBS-ASD-9383-blood-wgs-ILLUMINAchr19:
18558658-18558658
GAintronicDe novo--Kim2024 G
UBA52     IBS-ASD-32743-blood-wgs-ILLUMINAchr19:
18683644-18683645
GTGintronicDe novo--Kim2024 G
KLHL26     IBS-ASD-29863-blood-wgs-ILLUMINAchr19:
18758209-18758209
ACintronicDe novo--Kim2024 G
CRTC1     IBS-ASD-18083-blood-wgs-ILLUMINAchr19:
18830608-18830608
CGintronicDe novo--Kim2024 G
CRTC1     IBS-ASD-19053-blood-wgs-ILLUMINAchr19:
18855064-18855064
GAintronicDe novo--Kim2024 G
ZNF506     IBS-ASD-17483-blood-wgs-ILLUMINAchr19:
19940898-19940898
GCintergenicDe novo--Kim2024 G
ZNF93     IBS-ASD-32023-blood-wgs-ILLUMINAchr19:
20103414-20103414
TCintergenicDe novo--Kim2024 G
ZNF93     IBS-ASD-7313-blood-wgs-ILLUMINAchr19:
20110034-20110034
TCintergenicDe novo--Kim2024 G
ZNF682     IBS-ASD-19463-blood-wgs-ILLUMINAchr19:
20121290-20121290
GAintronicDe novo--Kim2024 G
ZNF682     IBS-ASD-9373-blood-wgs-ILLUMINAchr19:
20145146-20145146
GAintronicDe novo--Kim2024 G
ZNF682     IBS-ASD-16673-blood-wgs-ILLUMINAchr19:
20148434-20148434
TCintronicDe novo--Kim2024 G
ZNF90     IBS-ASD-13383-blood-wgs-ILLUMINAchr19:
20246204-20246204
GAintergenicDe novo--Kim2024 G
ZNF486     IBS-ASD-17223-blood-wgs-ILLUMINAchr19:
20290547-20290547
CGintronicDe novo--Kim2024 G
TMEM161A     IBS-ASD-10533-blood-wgs-ILLUMINAchr19:
19241145-19241145
GAintronicDe novo--Kim2024 G
NR2C2AP     IBS-ASD-30193-blood-wgs-ILLUMINAchr19:
19313354-19313356
GAAGexonicDe novoframeshift deletionNM_001300945
NM_176880
c.158_159del
c.158_159del
p.F53fs
p.F53fs
--Kim2024 G
TM6SF2     IBS-ASD-30343-blood-wgs-ILLUMINAchr19:
19382761-19382761
GCintronicDe novo--Kim2024 G
MAU2     IBS-ASD-15823-blood-wgs-ILLUMINAchr19:
19466044-19466044
GAintronicDe novo-2.562E-5Kim2024 G
GATAD2A     IBS-ASD-16663-blood-wgs-ILLUMINAchr19:
19498866-19498866
CCTTTTTTTintronicDe novo--Kim2024 G
GATAD2A     IBS-ASD-17753-blood-wgs-ILLUMINAchr19:
19501577-19501577
GGAGTCintronicDe novo--Kim2024 G
GATAD2A     IBS-ASD-6773-blood-wgs-ILLUMINAchr19:
19567927-19567927
GAintronicDe novo--Kim2024 G
ZNF101     IBS-ASD-17783-blood-wgs-ILLUMINAchr19:
19794341-19794341
TCdownstreamDe novo--Kim2024 G
ZNF85     IBS-ASD-30363-blood-wgs-ILLUMINAchr19:
21184942-21184943
GAGintergenicDe novo--Kim2024 G
ZNF493     IBS-ASD-9723-blood-wgs-ILLUMINAchr19:
21580211-21580213
AGTAintronicDe novo--Kim2024 G
ZNF493     IBS-ASD-9373-blood-wgs-ILLUMINAchr19:
21623796-21623796
GAintergenicDe novo--Kim2024 G
LINC00664     IBS-ASD-30003-blood-wgs-ILLUMINAchr19:
21678034-21678034
GAncRNA_intronicDe novo--Kim2024 G
LINC00664     IBS-ASD-9523-blood-wgs-ILLUMINAchr19:
21682511-21682511
CTncRNA_intronicDe novo--Kim2024 G
ZNF429     IBS-ASD-35053-blood-wgs-ILLUMINAchr19:
21815168-21815168
TCintergenicDe novo--Kim2024 G
ZNF429     IBS-ASD-35054-blood-wgs-ILLUMINAchr19:
21815168-21815168
TCintergenicDe novo--Kim2024 G
ZNF100     IBS-ASD-35153-blood-wgs-ILLUMINAchr19:
21908414-21908414
TCUTR3De novo--Kim2024 G
ZNF486     IBS-ASD-16043-blood-wgs-ILLUMINAchr19:
20463430-20463430
CTintergenicDe novo--Kim2024 G
ZNF737     IBS-ASD-29593-blood-wgs-ILLUMINAchr19:
20726395-20726395
CTUTR3De novo--Kim2024 G
ZNF626     IBS-ASD-4933-blood-wgs-ILLUMINAchr19:
20869194-20869194
CAintergenicDe novo--Kim2024 G
ZNF626     IBS-ASD-19693-blood-wgs-ILLUMINAchr19:
20895528-20895528
CTintergenicDe novo--Kim2024 G
ZNF626     IBS-ASD-31983-blood-wgs-ILLUMINAchr19:
20914391-20914391
CGintergenicDe novo--Kim2024 G
ZNF626     IBS-ASD-12953-blood-wgs-ILLUMINAchr19:
21060590-21060590
GCintergenicDe novo--Kim2024 G
ZNF626     IBS-ASD-19853-blood-wgs-ILLUMINAchr19:
21103996-21103996
CTintergenicDe novo--Kim2024 G
ZNF85     IBS-ASD-5273-blood-wgs-ILLUMINAchr19:
21118052-21118052
TGintronicDe novo--Kim2024 G
ZNF729     IBS-ASD-19773-blood-wgs-ILLUMINAchr19:
22534237-22534237
ACintergenicDe novo--Kim2024 G
LOC101929124    IBS-ASD-10393-blood-wgs-ILLUMINAchr19:
22709025-22709025
AGncRNA_exonicDe novo--Kim2024 G
LINC01233     IBS-ASD-19983-blood-wgs-ILLUMINAchr19:
22745472-22745472
GAintergenicDe novo--Kim2024 G
ZNF492     IBS-ASD-18523-blood-wgs-ILLUMINAchr19:
22828130-22828130
TCintronicDe novo--Kim2024 G
ZNF492     IBS-ASD-17803-blood-wgs-ILLUMINAchr19:
22832166-22832166
TGintronicDe novo--Kim2024 G
ZNF492     IBS-ASD-29663-blood-wgs-ILLUMINAchr19:
22864213-22864213
TCintergenicDe novo--Kim2024 G
ZNF99     IBS-ASD-10343-blood-wgs-ILLUMINAchr19:
23084188-23084188
CTintergenicDe novo--Kim2024 G
ZNF99     IBS-ASD-17913-blood-wgs-ILLUMINAchr19:
23128542-23128542
TGintergenicDe novo--Kim2024 G
ZNF43     IBS-ASD-32833-blood-wgs-ILLUMINAchr19:
21991800-21991800
AGexonicDe novononsynonymous SNVNM_001256651
NM_001256654
NM_001256653
NM_003423
NM_001256650
NM_001256648
NM_001256649
c.T844C
c.T844C
c.T1066C
c.T1039C
c.T1021C
c.T1021C
c.T1021C
p.C282R
p.C282R
p.C356R
p.C347R
p.C341R
p.C341R
p.C341R
9.725-Kim2024 G
ZNF43     IBS-ASD-17703-blood-wgs-ILLUMINAchr19:
22015142-22015142
ATintronicDe novo--Kim2024 G
ZNF43     IBS-ASD-9733-blood-wgs-ILLUMINAchr19:
22069352-22069352
TCintergenicDe novo--Kim2024 G
ZNF43     IBS-ASD-9273-blood-wgs-ILLUMINAchr19:
22071676-22071676
TCintergenicDe novo--Kim2024 G
ZNF43     IBS-ASD-15823-blood-wgs-ILLUMINAchr19:
22108684-22108684
TCintergenicDe novo--Kim2024 G
ZNF208     IBS-ASD-19923-blood-wgs-ILLUMINAchr19:
22208099-22208099
AATATATGintergenicDe novo--Kim2024 G
ZNF257     IBS-ASD-35083-blood-wgs-ILLUMINAchr19:
22307593-22307593
CTintergenicDe novo--Kim2024 G
ZNF729     IBS-ASD-17263-blood-wgs-ILLUMINAchr19:
22490052-22490052
AGintronicDe novo--Kim2024 G
LINC01224     IBS-ASD-29633-blood-wgs-ILLUMINAchr19:
23647924-23647924
CAintergenicDe novo--Kim2024 G
LINC01224     IBS-ASD-35084-blood-wgs-ILLUMINA Complex Event; expand row to view variants  De novo--Kim2024 G
Kim2024 G
LINC01224     IBS-ASD-29463-blood-wgs-ILLUMINAchr19:
23659329-23659331
CTTCintergenicDe novo--Kim2024 G
LINC01224     IBS-ASD-18274-blood-wgs-ILLUMINAchr19:
23691843-23691843
GAintergenicDe novo--Kim2024 G
LINC01224     IBS-ASD-18543-blood-wgs-ILLUMINAchr19:
23714794-23714794
GAintergenicDe novo--Kim2024 G
LINC01224     IBS-ASD-17173-blood-wgs-ILLUMINAchr19:
23718155-23718155
CTintergenicDe novo--Kim2024 G
LINC01224     IBS-ASD-17703-blood-wgs-ILLUMINAchr19:
23753739-23753739
CTintergenicDe novo--Kim2024 G
ZNF675     IBS-ASD-17143-blood-wgs-ILLUMINAchr19:
23848854-23848854
TCintronicDe novo--Kim2024 G
ZNF728     IBS-ASD-9683-blood-wgs-ILLUMINAchr19:
23192039-23192039
CCAAAintergenicDe novo--Kim2024 G
IBS-ASD-17093-blood-wgs-ILLUMINAchr19:
23277389-23277389
CTintergenicDe novo--Kim2024 G
IBS-ASD-29873-blood-wgs-ILLUMINAchr19:
23282878-23282878
AGintergenicDe novo--Kim2024 G
ZNF730     IBS-ASD-17363-blood-wgs-ILLUMINAchr19:
23317041-23317041
TCintronicDe novo--Kim2024 G
ZNF730     IBS-ASD-35023-blood-wgs-ILLUMINAchr19:
23358941-23358941
AGintergenicDe novo--Kim2024 G
ZNF730     IBS-ASD-17543-blood-wgs-ILLUMINAchr19:
23369295-23369295
GCintergenicDe novo--Kim2024 G
IPO5P1   IBS-ASD-17163-blood-wgs-ILLUMINAchr19:
23514826-23514826
GCintergenicDe novo--Kim2024 G
ZNF91     IBS-ASD-5753-blood-wgs-ILLUMINAchr19:
23573556-23573556
CGintronicDe novo--Kim2024 G
RPSAP58   IBS-ASD-19043-blood-wgs-ILLUMINAchr19:
24094676-24094676
CTintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-13553-blood-wgs-ILLUMINAchr19:
24102502-24102502
GAintronicDe novo--Kim2024 G
ZNF726     IBS-ASD-17423-blood-wgs-ILLUMINAchr19:
24118642-24118642
AGintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-19043-blood-wgs-ILLUMINAchr19:
24138300-24138300
AGintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-16083-blood-wgs-ILLUMINAchr19:
24163400-24163400
CTintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-16083-blood-wgs-ILLUMINAchr19:
24163402-24163402
AGintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-32783-blood-wgs-ILLUMINAchr19:
24168485-24168485
CGintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-32853-blood-wgs-ILLUMINAchr19:
24184337-24184337
CAintergenicDe novo--Kim2024 G
ZNF675     IBS-ASD-35033-blood-wgs-ILLUMINAchr19:
23874016-23874016
TCintergenicDe novo--Kim2024 G
ZNF675     IBS-ASD-35034-blood-wgs-ILLUMINAchr19:
23874016-23874016
TCintergenicDe novo--Kim2024 G
ZNF675     IBS-ASD-17333-blood-wgs-ILLUMINAchr19:
23879583-23879583
CTintergenicDe novo--Kim2024 G
ZNF675     IBS-ASD-9723-blood-wgs-ILLUMINAchr19:
23903780-23903780
CTintergenicDe novo--Kim2024 G
ZNF675     IBS-ASD-19683-blood-wgs-ILLUMINAchr19:
23918825-23918825
GGTintergenicDe novo--Kim2024 G
ZNF681     IBS-ASD-29853-blood-wgs-ILLUMINAchr19:
23944703-23944703
AAACCintergenicDe novo--Kim2024 G
RPSAP58   IBS-ASD-18673-blood-wgs-ILLUMINAchr19:
24042040-24042040
AGintergenicDe novo--Kim2024 G
RPSAP58   IBS-ASD-16273-blood-wgs-ILLUMINAchr19:
24093997-24093997
GCintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-29513-blood-wgs-ILLUMINAchr19:
24559487-24559487
TAintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-4663-blood-wgs-ILLUMINAchr19:
24563193-24563193
ACintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-18463-blood-wgs-ILLUMINAchr19:
24593131-24593131
TCintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-17573-blood-wgs-ILLUMINAchr19:
24596679-24596679
TAintergenicDe novo--Kim2024 G
IBS-ASD-9823-blood-wgs-ILLUMINAchr19:
27760776-27760776
GAintergenicDe novo--Kim2024 G
IBS-ASD-17223-blood-wgs-ILLUMINAchr19:
27790868-27790868
GTintergenicDe novo--Kim2024 G
IBS-ASD-12953-blood-wgs-ILLUMINAchr19:
27797339-27797339
AGintergenicDe novo--Kim2024 G
IBS-ASD-6053-blood-wgs-ILLUMINAchr19:
27884682-27884682
ATintergenicDe novo--Kim2024 G
ZNF726     IBS-ASD-9373-blood-wgs-ILLUMINAchr19:
24199343-24199343
TCintergenicDe novo--Kim2024 G
ZNF254     IBS-ASD-13433-blood-wgs-ILLUMINAchr19:
24225235-24225235
CTintronicDe novo--Kim2024 G
ZNF254     IBS-ASD-19443-blood-wgs-ILLUMINAchr19:
24268229-24268229
AATATATATATATATATATATATATATATATATATATGTintronicDe novo--Kim2024 G
ZNF254     IBS-ASD-12783-blood-wgs-ILLUMINAchr19:
24286621-24286621
GCintronicDe novo--Kim2024 G
ZNF254     IBS-ASD-9663-blood-wgs-ILLUMINAchr19:
24326749-24326749
GTintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-13543-blood-wgs-ILLUMINAchr19:
24427710-24427710
CTintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-17763-blood-wgs-ILLUMINAchr19:
24475232-24475232
CGintergenicDe novo--Kim2024 G
HAVCR1P1     IBS-ASD-13343-blood-wgs-ILLUMINAchr19:
24554054-24554054
CTintergenicDe novo--Kim2024 G
IBS-ASD-10363-blood-wgs-ILLUMINAchr19:
28156389-28156389
TAintergenicDe novo--Kim2024 G
IBS-ASD-18943-blood-wgs-ILLUMINAchr19:
28171023-28171023
CTintergenicDe novo--Kim2024 G
IBS-ASD-12743-blood-wgs-ILLUMINAchr19:
28172448-28172448
CTintergenicDe novo--Kim2024 G
IBS-ASD-13053-blood-wgs-ILLUMINAchr19:
28187635-28187635
GAintergenicDe novo--Kim2024 G
IBS-ASD-30113-blood-wgs-ILLUMINAchr19:
28198222-28198222
GTintergenicDe novo--Kim2024 G
IBS-ASD-30003-blood-wgs-ILLUMINAchr19:
28274614-28274614
TGintergenicDe novo--Kim2024 G
LOC101927151    IBS-ASD-17323-blood-wgs-ILLUMINAchr19:
28320874-28320874
CTintergenicDe novo--Kim2024 G
LOC101927151    IBS-ASD-5333-blood-wgs-ILLUMINAchr19:
28495903-28495903
TGintergenicDe novo--Kim2024 G
IBS-ASD-6173-blood-wgs-ILLUMINAchr19:
27903090-27903090
CCAintergenicDe novo--Kim2024 G
IBS-ASD-29993-blood-wgs-ILLUMINAchr19:
27910679-27910679
ACintergenicDe novo--Kim2024 G
IBS-ASD-32763-blood-wgs-ILLUMINAchr19:
27917659-27917659
GAintergenicDe novo--Kim2024 G
IBS-ASD-9643-blood-wgs-ILLUMINAchr19:
27918341-27918341
ACintergenicDe novo--Kim2024 G
IBS-ASD-12863-blood-wgs-ILLUMINAchr19:
27951686-27951686
GAintergenicDe novo--Kim2024 G
IBS-ASD-20693-blood-wgs-ILLUMINAchr19:
27985628-27985630
AACAintergenicDe novo--Kim2024 G
IBS-ASD-17593-blood-wgs-ILLUMINAchr19:
28014641-28014641
TCintergenicDe novo--Kim2024 G
IBS-ASD-30213-blood-wgs-ILLUMINAchr19:
28095644-28095644
CAintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-17583-blood-wgs-ILLUMINAchr19:
29219728-29219728
TGintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-12793-blood-wgs-ILLUMINAchr19:
29294002-29294002
GAintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-16683-blood-wgs-ILLUMINAchr19:
29298777-29298777
AGintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-5603-blood-wgs-ILLUMINAchr19:
29344397-29344397
GAintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-15893-blood-wgs-ILLUMINAchr19:
29439784-29439784
GTintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-32743-blood-wgs-ILLUMINAchr19:
29447020-29447021
TCTintergenicDe novo--Kim2024 G
LINC01532     IBS-ASD-16413-blood-wgs-ILLUMINAchr19:
29498233-29498233
GAncRNA_intronicDe novo--Kim2024 G
LINC01532     IBS-ASD-32853-blood-wgs-ILLUMINAchr19:
29498607-29498607
CTncRNA_intronicDe novo--Kim2024 G
LOC101927151    IBS-ASD-19863-blood-wgs-ILLUMINAchr19:
28542649-28542649
CTintergenicDe novo--Kim2024 G
LOC101927151    IBS-ASD-12923-blood-wgs-ILLUMINAchr19:
28663450-28663450
CTintergenicDe novo--Kim2024 G
LOC101927151    IBS-ASD-19113-blood-wgs-ILLUMINAchr19:
28712736-28712736
GAintergenicDe novo--Kim2024 G
LOC101927151    IBS-ASD-17723-blood-wgs-ILLUMINAchr19:
28804681-28804681
GAintergenicDe novo--Kim2024 G
LOC101927151    IBS-ASD-30123-blood-wgs-ILLUMINAchr19:
28875966-28875966
GCintergenicDe novo--Kim2024 G
LOC100420587    IBS-ASD-6143-blood-wgs-ILLUMINAchr19:
28998945-28998945
CTncRNA_intronicDe novo--Kim2024 G
LOC100420587    IBS-ASD-19383-blood-wgs-ILLUMINAchr19:
29143224-29143224
GAncRNA_intronicDe novo--Kim2024 G
LOC100420587    IBS-ASD-30193-blood-wgs-ILLUMINAchr19:
29203963-29203963
GTncRNA_intronicDe novo--Kim2024 G
PLEKHF1     IBS-ASD-32743-blood-wgs-ILLUMINAchr19:
30181459-30181459
AGintergenicDe novo--Kim2024 G
C19orf12     IBS-ASD-16073-blood-wgs-ILLUMINAchr19:
30205906-30205906
CAUTR5De novo--Kim2024 G
CCNE1     IBS-ASD-17033-blood-wgs-ILLUMINAchr19:
30345100-30345100
CGintergenicDe novo--Kim2024 G
CCNE1     IBS-ASD-29833-blood-wgs-ILLUMINAchr19:
30397405-30397405
CTintergenicDe novo--Kim2024 G
URI1     IBS-ASD-18464-blood-wgs-ILLUMINAchr19:
30542759-30542759
CTintergenicDe novo--Kim2024 G
URI1     IBS-ASD-29443-blood-wgs-ILLUMINAchr19:
30546458-30546458
CAintergenicDe novo--Kim2024 G
URI1     IBS-ASD-29443-blood-wgs-ILLUMINAchr19:
30548578-30548578
AGintergenicDe novo--Kim2024 G
URI1     IBS-ASD-17383-blood-wgs-ILLUMINAchr19:
30578244-30578244
CTintergenicDe novo--Kim2024 G
LINC01532     IBS-ASD-17593-blood-wgs-ILLUMINAchr19:
29547323-29547323
CTintergenicDe novo--Kim2024 G
LINC01532     IBS-ASD-16633-blood-wgs-ILLUMINAchr19:
29653985-29653985
AGintergenicDe novo--Kim2024 G
LOC284395    IBS-ASD-18143-blood-wgs-ILLUMINAchr19:
29787204-29787204
AGncRNA_intronicDe novo--Kim2024 G
LOC284395    IBS-ASD-19773-blood-wgs-ILLUMINAchr19:
29802981-29802982
CTCncRNA_intronicDe novo--Kim2024 G
LOC284395    IBS-ASD-16303-blood-wgs-ILLUMINAchr19:
29892424-29892424
CTncRNA_intronicDe novo--Kim2024 G
LOC284395    IBS-ASD-17353-blood-wgs-ILLUMINAchr19:
29987805-29987805
CCAGAGAGAGAGAGAGAGncRNA_intronicDe novo--Kim2024 G
VSTM2B     IBS-ASD-18093-blood-wgs-ILLUMINAchr19:
30037046-30037046
TCintronicDe novo--Kim2024 G
VSTM2B     IBS-ASD-19853-blood-wgs-ILLUMINAchr19:
30076040-30076040
TAintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-13013-blood-wgs-ILLUMINAchr19:
31073992-31073996
TTAAGTintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-19023-blood-wgs-ILLUMINAchr19:
31227279-31227279
AGintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-12793-blood-wgs-ILLUMINAchr19:
31283192-31283192
CTintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-17163-blood-wgs-ILLUMINAchr19:
31347412-31347412
CTintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-16293-blood-wgs-ILLUMINAchr19:
31449258-31449268
AATATAGCAATAintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-18343-blood-wgs-ILLUMINAchr19:
31484373-31484373
CTintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-20693-blood-wgs-ILLUMINAchr19:
31552770-31552770
GAintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-30123-blood-wgs-ILLUMINAchr19:
31570731-31570731
GAintergenicDe novo--Kim2024 G
URI1     IBS-ASD-5393-blood-wgs-ILLUMINAchr19:
30635373-30635373
CTintergenicDe novo--Kim2024 G
URI1     IBS-ASD-16623-blood-wgs-ILLUMINAchr19:
30770514-30770514
GCintergenicDe novo--Kim2024 G
URI1     IBS-ASD-9863-blood-wgs-ILLUMINAchr19:
30803038-30803038
GAintergenicDe novo--Kim2024 G
URI1     IBS-ASD-29673-blood-wgs-ILLUMINAchr19:
30830730-30830730
GAintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-29613-blood-wgs-ILLUMINAchr19:
30935070-30935070
GAexonicDe novononsynonymous SNVNM_014717c.G601Ap.E201K21.0-Kim2024 G
ZNF536     IBS-ASD-31813-blood-wgs-ILLUMINAchr19:
31001679-31001679
TAintronicDe novo--Kim2024 G
ZNF536     IBS-ASD-17843-blood-wgs-ILLUMINAchr19:
31003794-31003794
GAintronicDe novo--Kim2024 G
ZNF536     IBS-ASD-19793-blood-wgs-ILLUMINAchr19:
31067832-31067832
CAintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-19283-blood-wgs-ILLUMINAchr19:
31865830-31865830
GAintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-9683-blood-wgs-ILLUMINAchr19:
31893284-31893284
AGintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-9753-blood-wgs-ILLUMINAchr19:
31910469-31910469
CTintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-17443-blood-wgs-ILLUMINAchr19:
32000601-32000601
AGintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-13143-blood-wgs-ILLUMINAchr19:
32069529-32069529
GAintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-35103-blood-wgs-ILLUMINAchr19:
32075275-32075275
CTintergenicDe novo--Kim2024 G
THEG5   IBS-ASD-12943-blood-wgs-ILLUMINAchr19:
32085582-32085582
ATintergenicDe novo--Kim2024 G
THEG5   IBS-ASD-32383-blood-wgs-ILLUMINAchr19:
32136918-32136918
TCintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-10303-blood-wgs-ILLUMINAchr19:
31574185-31574185
TCintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-19693-blood-wgs-ILLUMINAchr19:
31685896-31685896
GAintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-29463-blood-wgs-ILLUMINAchr19:
31703125-31703125
GTintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-18093-blood-wgs-ILLUMINAchr19:
31740814-31740814
CTintergenicDe novo--Kim2024 G
ZNF536     IBS-ASD-13263-blood-wgs-ILLUMINAchr19:
31750744-31750744
TGintergenicDe novo--Kim2024 G
TSHZ3     IBS-ASD-19473-blood-wgs-ILLUMINAchr19:
31791556-31791556
CTintronicDe novo--Kim2024 G
TSHZ3     IBS-ASD-19803-blood-wgs-ILLUMINAchr19:
31816732-31816732
GAintronicDe novo--Kim2024 G
TSHZ3     IBS-ASD-30033-blood-wgs-ILLUMINAchr19:
31821044-31821044
CAintronicDe novo--Kim2024 G
IBS-ASD-15863-blood-wgs-ILLUMINAchr19:
32602075-32602075
GAintergenicDe novo--Kim2024 G
IBS-ASD-35163-blood-wgs-ILLUMINAchr19:
32622901-32622901
TAintergenicDe novo--Kim2024 G
IBS-ASD-9383-blood-wgs-ILLUMINAchr19:
32627279-32627279
GTintergenicDe novo--Kim2024 G
IBS-ASD-7193-blood-wgs-ILLUMINAchr19:
32719638-32719638
GAintergenicDe novo--Kim2024 G
IBS-ASD-4123-blood-wgs-ILLUMINAchr19:
32747742-32747742
CTintergenicDe novo--Kim2024 G
DPY19L3     IBS-ASD-19953-blood-wgs-ILLUMINAchr19:
33069382-33069382
TCintergenicDe novo--Kim2024 G
PDCD5     IBS-ASD-29563-blood-wgs-ILLUMINAchr19:
33085595-33085595
TCintergenicDe novo--Kim2024 G
ANKRD27     IBS-ASD-32863-blood-wgs-ILLUMINAchr19:
33115931-33115931
GAintronicDe novo--Kim2024 G
THEG5   IBS-ASD-15853-blood-wgs-ILLUMINAchr19:
32146466-32146466
CTintergenicDe novo--Kim2024 G
THEG5   IBS-ASD-18383-blood-wgs-ILLUMINAchr19:
32221904-32221904
AGintergenicDe novo--Kim2024 G
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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