Variant Results

or

Results for "Turner2017"

Variant Events: 43

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

RARA

14108.p1

chr17:
38511626-38511626

C

T

exonic

De novo

nonsynonymous SNV

NM_001145302
NM_001024809
NM_000964
NM_001145301

c.C833T
c.C1109T
c.C1124T
c.C1124T

p.P278L
p.P370L
p.P375L
p.P375L

35.0

-

Turner2017 G

SCN3A

12271.p1

chr2:
166011075-166011075

C

T

exonic

De novo

nonsynonymous SNV

NM_001081676
NM_001081677
NM_006922

c.G1267A
c.G1267A
c.G1267A

p.V423M
p.V423M
p.V423M

33.0

-

Turner2017 G

PAK1IP1

11726.p1

chr6:
10695304-10695304

T

G

splicing

De novo

splicing

16.29

-

Turner2017 G

BIRC6

12837.p1

chr2:
32730150-32730150

G

C

exonic

De novo

nonsynonymous SNV

NM_016252

c.G9578C

p.R3193P

34.0

-

Turner2017 G

DNAH17

11587.p1

chr17:
76420174-76420174

G

A

exonic

De novo

nonsynonymous SNV

NM_173628

c.C13202T

p.P4401L

34.0

2.0E-4

Turner2017 G

THSD4

14160.p1

chr15:
72050341-72050341

C

T

exonic

De novo

nonsynonymous SNV

NM_001286429
NM_024817

c.C1436T
c.C2516T

p.P479L
p.P839L

32.0

-

Turner2017 G

TCF7L2

13069.p1

chr10:
114901076-114901076

G

A

splicing

De novo

splicing

29.5

-

Turner2017 G

HDAC9

13076.p1

chr7:
18624949-18624949

C

T

exonic

De novo

nonsynonymous SNV

NM_058176
NM_178425
NM_001204145
NM_001204146
NM_014707
NM_178423
NM_001204144

c.C68T
c.C68T
c.C68T
c.C68T
c.C68T
c.C68T
c.C194T

p.P23L
p.P23L
p.P23L
p.P23L
p.P23L
p.P23L
p.P65L

35.0

-

Turner2017 G

TRIP12

13290.p1

chr2:
230636299-230636299

G

A

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C4709T
c.C5618T
c.C5519T
c.C5663T

p.S1570L
p.S1873L
p.S1840L
p.S1888L

34.0

-

Turner2017 G

GPS1

13629.p1

chr17:
80014816-80014816

G

A

exonic

De novo

nonsynonymous SNV

NM_004127
NM_212492

c.G1367A
c.G1475A

p.R456Q
p.R492Q

32.0

-

Turner2017 G

GLIPR1L2

11432.p1

chr12:
75796795-75796795

A

C

intronic

De novo

14.2

-

Turner2017 G

SMIM22

13965.p1

chr16:
4846043-4846058

CTGGAAGGTGAGCCCT

C

exonic

De novo

nonframeshift deletion

NM_001253794
NM_001253791

c.220_225del
c.220_225del

p.74_75del
p.74_75del

-

Turner2017 G

ANKRD20A4

12285.p1

chr9:
69409974-69409974

G

A

splicing

De novo

splicing

13.26

-

Turner2017 G

NPIPB5

11099.p1

chr16:
22545935-22545935

C

G

exonic

De novo

stopgain

NM_001135865

c.C1631G

p.S544X

14.39

3.0E-4

Turner2017 G

FAM45A

12011.p1

chr10:
120877119-120877119

G

A

exonic

De novo

nonsynonymous SNV

NM_001303112
NM_207009
NM_001303111

c.G202A
c.G421A
c.G397A

p.G68S
p.G141S
p.G133S

34.0

1.648E-5

Turner2017 G

GGT1

12175.p1

chr22:
25024161-25024161

G

A

splicing

De novo

splicing

11.69

8.239E-6

Turner2017 G

PCM1

12460.p1

chr8:
17782220-17782220

A

G

splicing

De novo

splicing

-

Turner2017 G

FNBP4

11700.p1

chr11:
47788778-47788779

AC

A

exonic

De novo

frameshift deletion

NM_015308

c.62delG

p.G21fs

-

Turner2017 G

CHRND

11729.p1

chr2:
233396326-233396326

G

A

exonic

De novo

nonsynonymous SNV

NM_001311195
NM_001256657
NM_000751
NM_001311196

c.G425A
c.G962A
c.G1007A
c.G704A

p.R142Q
p.R321Q
p.R336Q
p.R235Q

37.0

4.123E-5

Turner2017 G

PHIP

14228.p1

chr6:
79735235-79735240

CTTTAT

C

exonic

De novo

frameshift deletion

NM_017934

c.919_923del

p.I307fs

-

8.287E-6

Turner2017 G

SRPRA

12086.p1

chr11:
126134982-126134982

C

T

exonic

De novo

nonsynonymous SNV

NM_001177842
NM_003139

c.G1313A
c.G1397A

p.R438H
p.R466H

35.0

8.253E-6

Turner2017 G

VARS

14574.p1

chr6:
31746848-31746848

G

A

exonic

De novo

stopgain

NM_006295

c.C3622T

p.R1208X

43.0

9.022E-6

Turner2017 G

MPLKIP

14065.p1

chr7:
40173984-40173984

G

T

exonic

De novo

stopgain

NM_138701

c.C183A

p.Y61X

37.0

-

Turner2017 G

ARID1B

14640.p1

chr6:
157100567-157100568

AG

A

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.1505delG
c.1505delG

p.S502fs
p.S502fs

-

Turner2017 G

CNTNAP3

12574.p1

chr9:
39078705-39078705

G

A

exonic

De novo

stopgain

NM_033655

c.C3655T

p.R1219X

40.0

-

Turner2017 G

DNM1

13965.p1

chr9:
131013111-131013111

T

TG

exonic

De novo

unknown

-

Turner2017 G

PTPN11

12989.p1

chr12:
112926888-112926888

G

A

exonic

De novo

nonsynonymous SNV

NM_002834

c.G1508A

p.G503E

34.0

-

Turner2017 G

ANKS6

13080.p1

chr9:
101540675-101540675

C

T

exonic

De novo

nonsynonymous SNV

NM_173551

c.G1400A

p.R467Q

35.0

6.747E-5

Turner2017 G

MYB

11470.p1

chr6:
135507151-135507151

G

A

exonic

De novo

nonsynonymous SNV

NM_001130172
NM_001130173
NM_001161656
NM_001161657
NM_001161658
NM_001161659
NM_001161660
NM_005375

c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A

p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q

35.0

-

Turner2017 G

SUPT16H

11089.p1

chr14:
21828671-21828671

C

T

exonic

De novo

nonsynonymous SNV

NM_007192

c.G2078A

p.R693Q

36.0

-

Turner2017 G

CACNA1G

11573.p1

chr17:
48680533-48680533

G

A

exonic

De novo

nonsynonymous SNV

NM_001256332
NM_198376
NM_198379
NM_198382
NM_198383
NM_198387
NM_198388
NM_198396
NM_001256324
NM_001256325
NM_001256326
NM_001256327
NM_001256328
NM_001256329
NM_001256330
NM_001256331
NM_001256333
NM_001256334
NM_001256359
NM_001256360
NM_001256361
NM_018896
NM_198377
NM_198378
NM_198380
NM_198384
NM_198385
NM_198386

c.G4073A
c.G4073A
c.G4073A
c.G4073A
c.G4073A
c.G4073A
c.G4073A
c.G4073A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A
c.G4142A

p.R1358Q
p.R1358Q
p.R1358Q
p.R1358Q
p.R1358Q
p.R1358Q
p.R1358Q
p.R1358Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q
p.R1381Q

35.0

-

Turner2017 G

APBA1

11333.p1

chr9:
72047457-72047457

C

T

exonic

De novo

nonsynonymous SNV

NM_001163

c.G2437A

p.G813R

34.0

-

Turner2017 G

TBC1D22B

14458.p1

chr6:
37280756-37280756

G

A

exonic

De novo

nonsynonymous SNV

NM_017772

c.G1045A

p.A349T

35.0

-

Turner2017 G

SETX

14061.p1

chr9:
135153629-135153629

C

T

exonic

De novo

nonsynonymous SNV

NM_015046

c.G6670A

p.G2224S

32.0

8.237E-6

Turner2017 G

MKS1

14645.p1

chr17:
56285320-56285320

G

A

exonic

De novo

nonsynonymous SNV

NM_001165927
NM_017777

c.C1178T
c.C1208T

p.S393L
p.S403L

34.0

-

Turner2017 G

AASS

12793.p1

chr7:
121766464-121766464

C

A

exonic

De novo

nonsynonymous SNV

NM_005763

c.G437T

p.R146L

33.0

-

Turner2017 G

SRGAP3

14681.p1

chr3:
9036106-9036106

C

T

exonic

De novo

nonsynonymous SNV

NM_001033117
NM_014850

c.G2257A
c.G2329A

p.A753T
p.A777T

35.0

-

Turner2017 G

ABR

11142.p1

chr17:
1003915-1003915

C

T

exonic

De novo

nonsynonymous SNV

NM_001092
NM_001159746
NM_021962

c.G196A
c.G169A
c.G307A

p.E66K
p.E57K
p.E103K

33.0

8.237E-6

Turner2017 G

PTK7

11726.p1

chr6:
43109472-43109472

G

A

exonic

De novo

nonsynonymous SNV

NM_152881
NM_152880
NM_001270398
NM_002821
NM_152882

c.G1295A
c.G1565A
c.G1709A
c.G1685A
c.G1685A

p.R432Q
p.R522Q
p.R570Q
p.R562Q
p.R562Q

32.0

-

Turner2017 G

TMC4

12630.p1

chr19:
54672377-54672377

A

G

exonic

De novo

nonsynonymous SNV

NM_001145303
NM_144686

c.T490C
c.T472C

p.F164L
p.F158L

33.0

-

Turner2017 G

MYO1E

13910.p1

chr15:
59516914-59516914

C

T

exonic

De novo

nonsynonymous SNV

NM_004998

c.G751A

p.D251N

35.0

1.648E-5

Turner2017 G

LIMK1

14629.p1

chr7:
73513559-73513559

G

A

exonic

De novo

nonsynonymous SNV

NM_001204426
NM_002314

c.G497A
c.G599A

p.R166H
p.R200H

35.0

-

Turner2017 G

PEX5L

13211.p1

chr3:
179605524-179605524

C

T

exonic

De novo

nonsynonymous SNV

NM_001256753
NM_001256751
NM_001256752
NM_001256750
NM_001256754
NM_001256755
NM_016559

c.G70A
c.G175A
c.G142A
c.G241A
c.G118A
c.G118A
c.G247A

p.D24N
p.D59N
p.D48N
p.D81N
p.D40N
p.D40N
p.D83N

36.0

8.237E-6

Turner2017 G

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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