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Results for "CNTNAP5"
Variant Events: 208
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
CNTNAP5
2-1366-004
chr2:
125538214-125538214
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU3765303
chr2:
126232986-126232986
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
12568.p1
chr2:
125608083-125608083
T
C
intronic
De novo
-
-
Turner2016
G
CNTNAP5
14482.p1
chr2:
127171261-127171261
G
A
intergenic
De novo
-
-
Turner2016
G
CNTNAP5
3-0246-000
chr2:
124959863-124959863
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CNTNAP5
AU3808305
chr2:
125293789-125293789
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
5-0095-003
chr2:
127275766-127275766
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0862-003
chr2:
125804910-125804910
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1182-003
chr2:
126437390-126437390
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
1-0469-003
chr2:
125686555-125686556
AC
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0138-003
chr2:
125443553-125443553
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU2793303
chr2:
125914898-125914904
ATTTTTT
ATTTTTTT
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
SJD_68.3
chr2:
125232420-125232420
T
C
exonic
De novo
synonymous SNV
NM_130773
c.T1023C
p.I341I
-
-
Trost2022
G
Zhou2022
G
E
CNTNAP5
1-0289-003
chr2:
125447244-125447246
CGT
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU3874303
chr2:
127012009-127012009
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0554-003
chr2:
126853196-126853196
T
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0554-003
chr2:
125338770-125338770
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0554-003
chr2:
125338341-125338341
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU4032306
chr2:
126434923-126434923
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
5-0077-004
chr2:
126397103-126397103
C
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU076705
chr2:
124810587-124810587
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
2-0002-005
chr2:
125000702-125000702
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU076705
chr2:
124810932-124810932
G
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU0039303
chr2:
125418674-125418674
G
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
MT_26.3
chr2:
124800897-124800897
A
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
4-0062-003
chr2:
124803387-124803388
TC
GT
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00378-003
chr2:
124790502-124790502
T
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0286-003A
chr2:
124797724-124797724
C
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU4223302
chr2:
125555379-125555379
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
MSSNG00184-003
chr2:
124946930-124946930
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00352-003
chr2:
124947061-124947061
T
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
3-0198-000
chr2:
124897618-124897618
A
AAATC
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0194-003
chr2:
124817331-124817331
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU3912302
chr2:
127101878-127101878
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
3-0723-000
chr2:
124913586-124913586
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0604-003
chr2:
126804330-126804339
CTGTGTGTGT
CTGTGTGT
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
4-0062-003
chr2:
124845211-124845212
AT
GG
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0604-003
chr2:
126258412-126258412
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU2462302
chr2:
124861551-124861554
CATA
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU2109301
chr2:
125302506-125302506
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
3-0484-000
chr2:
124814225-124814225
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-1143-003
chr2:
125567106-125567106
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
3-0833-000
chr2:
124829848-124829848
T
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU2320301
chr2:
125148779-125148779
T
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00342-003
chr2:
125202049-125202049
G
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0952-003
chr2:
125111539-125111539
T
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0604-003
chr2:
127398408-127398422
CCTCTCTCTCTCTCT
CCTCTCTCTCTCT
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
MSSNG00247-003
chr2:
125129612-125129612
T
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0194-003
chr2:
124817333-124817333
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0628-004A
chr2:
125058384-125058384
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0194-003
chr2:
127266718-127266718
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU2310301
chr2:
125096700-125096700
A
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1032
chr2:
125017297-125017297
T
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AM03ZF-03
chr2:
125043721-125043721
C
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00389-003
chr2:
125241131-125241131
A
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
SJD_50.5
chr2:
125250092-125250092
C
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0224-004
chr2:
125449390-125449390
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
2-1796-003
chr2:
125234491-125234491
G
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU2688301
chr2:
125238252-125238252
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU2463301
chr2:
125228051-125228051
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU004403
chr2:
125229974-125229974
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00342-004
chr2:
125202049-125202049
G
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU039304
chr2:
125202847-125202847
G
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
3-0017-000
chr2:
125426628-125426628
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0876-003A
chr2:
125432256-125432256
T
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-1068-003
chr2:
125385732-125385732
C
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0153-004
chr2:
127295084-127295085
CA
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1174-006
chr2:
126851073-126851073
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
MSSNG00374-003
chr2:
125388271-125388271
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-0264-004
chr2:
125337026-125337026
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
MSSNG00002-004
chr2:
125327999-125327999
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00041-003
chr2:
125383020-125383034
CAGTATACATAGTAT
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU2221301
chr2:
125307868-125307868
C
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0239-003
chr2:
125310443-125310443
C
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-1102-003
chr2:
125518782-125518782
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-1694-003
chr2:
125525007-125525007
T
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-1365-003
chr2:
125211388-125211388
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CNTNAP5
AU061003
chr2:
127368286-127368286
T
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-0323-003
chr2:
125512141-125512144
CCCA
TCTC
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0459-003
chr2:
125513247-125513247
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0351-004
chr2:
125462881-125462881
G
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0057-003
chr2:
125492926-125492926
T
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU017703
chr2:
124883662-124883662
G
C
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0700-005A
chr2:
125439386-125439386
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
7-0399-003
chr2:
125450955-125450955
T
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU2508301
chr2:
125605091-125605091
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
3-0708-000
chr2:
125610091-125610091
G
C
intronic
De novo
-
-
Trost2022
G
CNTNAP5
610
chr2:
125581371-125581371
C
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
3-0484-000
chr2:
125597588-125597588
A
G
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00127-004
chr2:
125561581-125561581
C
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-1817-003
chr2:
125564438-125564438
G
T
intronic
De novo
-
-
Trost2022
G
CNTNAP5
1-0683-004
chr2:
125069718-125069718
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
2-1237-004
chr2:
125539678-125539678
C
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
MSSNG00415-003
chr2:
125542338-125542338
G
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
AU038703
chr2:
127409174-127409174
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0448-003
chr2:
125403902-125403902
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU2192301
chr2:
125641089-125641089
C
A
intronic
De novo
-
-
Trost2022
G
CNTNAP5
2-0320-003
chr2:
126931602-126931602
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0339-003
chr2:
125764099-125764130
GCTGAGAACGGCAGTACGTGTTGCAGGCGGCT
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3918302
chr2:
125854127-125854127
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1327-004
chr2:
127198213-127198213
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU031003
chr2:
124886202-124886202
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU047703
chr2:
125533111-125533111
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0193-003
chr2:
126628417-126628417
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1425-003
chr2:
125145583-125145583
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
7-0247-003
chr2:
125567587-125567587
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU4263304
chr2:
126838222-126838222
A
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU072504
chr2:
124907710-124907710
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU3786301
chr2:
126767188-126767188
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0756-003
chr2:
126370716-126370716
G
GCCCGGCC
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1166-003
chr2:
126049990-126049990
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
2-1280-003
chr2:
126759492-126759492
G
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
1-0756-003
chr2:
125881342-125881342
G
GACCTATGTTAACCTGTGTTACAATTAC
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
5-0146-003
chr2:
125229157-125229157
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU3371305
chr2:
127057739-127057750
TTATATATATAT
TTATATATATATAT
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU050603
chr2:
126315360-126315360
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0304-003
chr2:
126678089-126678089
G
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
09C84345
chr2:
125660657-125660657
C
T
exonic
De novo
nonsynonymous SNV
NM_130773
c.C3632T
p.T1211I
16.21
-
Fu2022
E
CNTNAP5
2-1290-004
chr2:
126656885-126656885
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-0210-004
chr2:
126329706-126329706
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU4159302
chr2:
124881542-124881542
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
2-0323-003
chr2:
124897618-124897618
A
AAATC
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
mAGRE2924
chr2:
125547597-125547597
C
A
exonic
Maternal
stopgain
NM_130773
c.C2868A
p.C956X
43.0
-
Cirnigliaro2023
G
CNTNAP5
1-0079-008
chr2:
124909375-124909375
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU4159302
chr2:
126778401-126778401
G
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU4306302
chr2:
126223667-126223667
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3729301
chr2:
126579316-126579316
A
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU4069302
chr2:
125167162-125167163
AG
A
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
iHART2924
chr2:
125547597-125547597
C
A
exonic
Maternal
stopgain
NM_130773
c.C2868A
p.C956X
43.0
-
Ruzzo2019
G
CNTNAP5
74-0115
chr2:
125647238-125647238
T
C
intronic
De novo
-
-
Michaelson2012
G
CNTNAP5
1-0339-004
chr2:
125764099-125764130
GCTGAGAACGGCAGTACGTGTTGCAGGCGGCT
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU4433301
chr2:
127116874-127116874
T
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3716301
chr2:
127136031-127136031
A
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1526-003
chr2:
126822749-126822749
G
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3907302
chr2:
125119612-125119612
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU024607
chr2:
124836956-124836956
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU3343301
chr2:
126947407-126947407
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0464-003
chr2:
126660033-126660033
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
2-0242-005
chr2:
126046756-126046756
G
GT
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
13604.p1
chr2:
127087750-127087750
G
A
intergenic
De novo
-
-
Werling2018
G
CNTNAP5
1-0282-003
chr2:
125472716-125472716
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0336-003
chr2:
126293453-126293453
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU4235302
chr2:
125746234-125746234
G
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1452-003
chr2:
126724783-126724783
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-0158-003
chr2:
126102662-126102662
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU034904
chr2:
127143994-127143994
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3680302
chr2:
125342536-125342536
G
A
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
AU1988301
chr2:
125461186-125461186
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0901-004
chr2:
127162158-127162158
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1459-003
chr2:
126055140-126055140
G
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
2-0110-003
chr2:
127020358-127020358
G
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
5-0131-003
chr2:
126068491-126068506
GGCAACTTTTATGAAA
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0080-003
chr2:
124959254-124959254
G
A
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1562-004
chr2:
124920612-124920612
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
7-0219-003
chr2:
127224816-127224816
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3716302
chr2:
126374463-126374463
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0272-004
chr2:
125771013-125771013
T
TAAATAAAATA
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0569-003
chr2:
125689153-125689153
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
F2-003
chr2:
125669092-125669092
G
A
exonic
Paternal
nonsynonymous SNV
NM_130773
c.G3701A
p.R1234Q
11.91
1.0E-4
Vaags2012
E
CNTNAP5
2-1730-003
chr2:
125449140-125449140
A
C
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3913302
chr2:
126799432-126799432
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1114-003
chr2:
126478505-126478505
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1730-003
chr2:
126829382-126829382
T
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1730-003
chr2:
127393887-127393887
G
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3052302
chr2:
125737268-125737268
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3368302
chr2:
126368935-126368935
T
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1693-003
chr2:
126199466-126199466
T
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0158-003
chr2:
125585892-125585913
ACTAAATATAAGAAAAATTAGC
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU047904
chr2:
127361519-127361519
G
C
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
5-0014-004
chr2:
125158255-125158255
T
TG
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
5-0033-004
chr2:
126995189-126995189
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1105-003
chr2:
125844428-125844428
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
2-1461-003
chr2:
125664532-125664532
C
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
1-0252-003
chr2:
126447457-126447457
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0068-003
chr2:
127288011-127288011
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3874301
chr2:
125769711-125769711
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0190-003
chr2:
124926521-124926521
T
C
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0489-003
Complex Event; expand row to view variants
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
AU3779302
chr2:
126044538-126044538
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU1952305
chr2:
125446080-125446080
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU1952305
chr2:
127091743-127091743
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-0286-004
chr2:
125463784-125463784
T
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
A7
chr2:
126136068-126136068
C
T
intergenic
De novo
-
-
Wu2018
G
CNTNAP5
2-1391-003
chr2:
125907994-125907994
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-0016-003
chr2:
127287177-127287177
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-0318-004
chr2:
126751356-126751358
ATT
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1152-003
chr2:
125842408-125842408
T
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CNTNAP5
AU015903
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
2-0006-004
chr2:
126442757-126442757
C
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
2-1629-003
chr2:
125466115-125466115
A
T
intronic
De novo
-
-
Yuen2017
G
CNTNAP5
AU072904
chr2:
125333684-125333684
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0197-004
chr2:
125967910-125967910
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
5-0077-003
chr2:
125907994-125907994
C
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
5-0077-003
chr2:
126397103-126397103
C
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3839303
chr2:
125225321-125225321
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0025-004
chr2:
126884717-126884717
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU2495301
chr2:
125733072-125733072
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1507001
chr2:
125284870-125284870
G
A
exonic
De novo
nonsynonymous SNV
NM_130773
c.G1483A
p.D495N
12.79
3.0E-4
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CNTNAP5
AU2793302
chr2:
125253518-125253518
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
1-0467-005
chr2:
125293308-125293308
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU4314302
chr2:
125236681-125236681
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU4219302
chr2:
125807511-125807511
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU3915301
chr2:
126211757-126211757
A
G
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
1-0169-004
chr2:
127089560-127089560
G
A
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
AU4347301
chr2:
127303099-127303099
G
T
intergenic
De novo
-
-
Yuen2017
G
CNTNAP5
A13
chr2:
125920042-125920042
G
A
intergenic
De novo
-
-
Wu2018
G
CNTNAP5
2-1277-003
chr2:
125423649-125423649
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CNTNAP5
AU2248302
chr2:
127218177-127218177
T
C
intergenic
De novo
-
-
Yuen2017
G
Source Variant Information
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Source:
Paper alias:
No records found.
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 notes
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