Variant Results

or

Results for "Jiao2019"

Variant Events: 26

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

CELSR3

A23

chr3:
48698203-48698203

G

A

exonic

De novo

nonsynonymous SNV

NM_001407

c.C1865T

p.A622V

22.0

-

Jiao2019 E

QSER1

A18

chr11:
32955979-32955979

C

G

exonic

De novo

nonsynonymous SNV

NM_001076786

c.C2788G

p.L930V

11.12

-

Jiao2019 E

ZNF276

A30

chr16:
89789695-89789695

G

T

exonic

De novo

nonsynonymous SNV

NM_001113525
NM_152287

c.G584T
c.G359T

p.C195F
p.C120F

21.1

-

Jiao2019 E

VPS9D1

A30

chr16:
89778295-89778295

C

G

exonic

De novo

nonsynonymous SNV

NM_004913

c.G742C

p.D248H

18.42

-

Jiao2019 E

RNF31

A17

chr14:
24621148-24621148

C

T

exonic

De novo

nonsynonymous SNV

NM_001310332
NM_017999

c.C1624T
c.C2077T

p.R542C
p.R693C

20.1

-

Jiao2019 E

MAPK7

A16

chr17:
19284648-19284648

C

T

exonic

De novo

nonsynonymous SNV

NM_139032
NM_002749
NM_139033
NM_139034

c.C709T
c.C1126T
c.C1126T
c.C1126T

p.R237C
p.R376C
p.R376C
p.R376C

18.99

8.257E-6

Jiao2019 E

C1GALT1

A18

chr7:
7278285-7278285

T

C

exonic

De novo

nonsynonymous SNV

NM_020156

c.T620C

p.M207T

20.5

-

Jiao2019 E

CACNA1D

A18

chr3:
53808675-53808675

C

T

exonic

De novo

nonsynonymous SNV

NM_001128839
NM_001128840
NM_000720

c.C4127T
c.C4172T
c.C4232T

p.T1376M
p.T1391M
p.T1411M

31.0

-

Jiao2019 E

FBXO11

A51

chr2:
48037458-48037458

C

T

exonic

De novo

nonsynonymous SNV

NM_001190274
NM_025133

c.G2335A
c.G2083A

p.A779T
p.A695T

35.0

-

Jiao2019 E

TTN

A49

chr2:
179469622-179469622

C

T

exonic

De novo

nonsynonymous SNV

NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550

c.G26999A
c.G27374A
c.G27575A
c.G46490A
c.G49271A
c.G54194A

p.R9000H
p.R9125H
p.R9192H
p.R15497H
p.R16424H
p.R18065H

15.86

9.282E-5

Jiao2019 E

ZNF512

A52

chr2:
27838059-27838059

C

T

exonic

De novo

nonsynonymous SNV

NM_001271286
NM_001271287
NM_001271288
NM_001271289
NM_032434
NM_001271318

c.C1069T
c.C925T
c.C925T
c.C841T
c.C1156T
c.C925T

p.P357S
p.P309S
p.P309S
p.P281S
p.P386S
p.P309S

25.2

-

Jiao2019 E

HIST1H2AG

A51

chr6:
27101095-27101095

G

C

exonic

De novo

nonsynonymous SNV

NM_021064

c.G245C

p.R82P

14.18

-

Jiao2019 E

PRKAG2

A41

chr7:
151372597-151372597

G

A

exonic

De novo

nonsynonymous SNV

NM_001304527
NM_001040633
NM_016203

c.C221T
c.C461T
c.C593T

p.P74L
p.P154L
p.P198L

15.68

8.264E-6

Jiao2019 E

ADGRL3

A39

chr4:
62936291-62936291

T

C

exonic

De novo

nonsynonymous SNV

NM_015236

c.T4075C

p.F1359L

12.45

-

Jiao2019 E

AASDH

A47

chr4:
57221513-57221513

C

A

exonic

De novo

nonsynonymous SNV

NM_001286668
NM_001286669
NM_001286671
NM_001286672
NM_181806

c.G638T
c.G479T
c.G938T
c.G938T
c.G938T

p.R213L
p.R160L
p.R313L
p.R313L
p.R313L

21.6

-

Jiao2019 E

MCMDC2

A44

chr8:
67809100-67809100

T

C

exonic

De novo

nonsynonymous SNV

NM_001136160
NM_001136161
NM_173518

c.T1532C
c.T1532C
c.T1532C

p.L511P
p.L511P
p.L511P

16.93

-

Jiao2019 E

EXTL3

A59

chr8:
28575080-28575080

G

A

exonic

De novo

nonsynonymous SNV

NM_001440

c.G1504A

p.D502N

12.62

8.244E-6

Jiao2019 E

HIPK1

A59

chr1:
114483086-114483086

G

C

exonic

De novo

nonsynonymous SNV

NM_152696
NM_198268

c.G81C
c.G81C

p.E27D
p.E27D

25.3

-

Jiao2019 E

KIF15

A14

chr3:
44835865-44835865

T

A

exonic

De novo

nonsynonymous SNV

NM_020242

c.T796A

p.L266I

21.6

-

Jiao2019 E

PRAG1

A9

chr8:
8185509-8185509

G

A

exonic

De novo

nonsynonymous SNV

NM_001080826

c.C2783T

p.S928F

15.32

8.823E-6

Jiao2019 E

JAK2

A15

chr9:
5064922-5064922

G

C

exonic

De novo

nonsynonymous SNV

NM_004972

c.G1096C

p.V366L

19.32

2.481E-5

Jiao2019 E

KIF15

A14

chr3:
44835901-44835901

G

A

exonic

De novo

nonsynonymous SNV

NM_020242

c.G832A

p.E278K

27.6

-

Jiao2019 E

TMUB2

A3

chr17:
42266526-42266526

G

A

exonic

De novo

nonsynonymous SNV

NM_024107
NM_177441
NM_001076674

c.G112A
c.G112A
c.G172A

p.V38I
p.V38I
p.V58I

23.0

-

Jiao2019 E

ACHE

A1

chr7:
100490343-100490343

C

T

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001302621
NM_001302622
NM_015831

c.G1165A
c.G1165A
c.G1165A
c.G1165A

p.E389K
p.E389K
p.E389K
p.E389K

12.57

-

Jiao2019 E

AOC1

A9

chr7:
150555967-150555967

C

T

exonic

De novo

nonsynonymous SNV

NM_001091
NM_001272072

c.C1687T
c.C1687T

p.R563C
p.R563C

17.02

5.917E-5

Jiao2019 E

YY1

A4

chr14:
100742884-100742884

G

A

exonic

De novo

nonsynonymous SNV

NM_003403

c.G961A

p.G321S

36.0

-

Jiao2019 E

Source Variant Information

, -

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	View
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