Variant Results

or

Results for "Costa2023"

Variant Events: 37

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

PBRM1

Costa2023:P2-1

chr3:
52597431-52597431

C

A

exonic

De novo

nonsynonymous SNV

NM_018313

c.G3879T

p.E1293D

5.467

-

Costa2023 E

SART3

Costa2023:P1-1

chr12:
108939019-108939019

C

T

exonic

De novo

nonsynonymous SNV

NM_014706

c.G625A

p.V209M

24.9

1.647E-5

Costa2023 E

ITIH2

Costa2023:P3-1

chr10:
7763722-7763722

G

T

exonic

De novo

nonsynonymous SNV

NM_002216

c.G849T

p.E283D

7.425

-

Costa2023 E

WDFY3

Costa2023:P3-1

chr4:
85636495-85636495

G

T

exonic

De novo

stopgain

NM_014991

c.C7917A

p.Y2639X

24.7

-

Costa2023 E

HDAC9

Costa2023:P1-1

chr7:
18833005-18833005

C

G

exonic

De novo

nonsynonymous SNV

NM_058176
NM_178425
NM_178423

c.C2243G
c.C2252G
c.C2243G

p.S748C
p.S751C
p.S748C

16.15

-

Costa2023 E

MTR

Costa2023:P1-1

chr1:
237025561-237025561

A

G

exonic

De novo

nonsynonymous SNV

NM_001291939
NM_001291940
NM_000254

c.A2069G
c.A1001G
c.A2222G

p.K690R
p.K334R
p.K741R

28.3

-

Costa2023 E

BRSK2

Costa2023:P7-1

chr11:
1475787-1475787

A

C

exonic

De novo

nonsynonymous SNV

NM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957

c.A1617C
c.A1617C
c.A1755C
c.A1437C
c.A1617C

p.K539N
p.K539N
p.K585N
p.K479N
p.K539N

14.83

-

Costa2023 E

PNLIPRP3

Costa2023:P7-1

chr10:
118202607-118202607

A

G

exonic

De novo

nonsynonymous SNV

NM_001011709

c.A245G

p.Y82C

14.7

-

Costa2023 E

DNAH11

Costa2023:P9-1

chr7:
21584738-21584738

C

T

exonic

De novo

nonsynonymous SNV

NM_001277115

c.C466T

p.L156F

4.988

-

Costa2023 E

EVC

Costa2023:P9-1

chr4:
5803701-5803701

G

T

exonic

De novo

stopgain

NM_001306090
NM_153717

c.G2329T
c.G2329T

p.E777X
p.E777X

37.0

-

Costa2023 E

DGKB

Costa2023:P4-1

chr7:
14722266-14722266

T

A

exonic

De novo

nonsynonymous SNV

NM_004080
NM_145695

c.A947T
c.A947T

p.N316I
p.N316I

23.3

-

Costa2023 E

TBL1X

Costa2023:P3-1

chrX:
9656072-9656072

G

A

exonic

De novo

nonsynonymous SNV

NM_001139467
NM_001139466
NM_001139468
NM_005647

c.G220A
c.G373A
c.G220A
c.G373A

p.D74N
p.D125N
p.D74N
p.D125N

23.1

-

Costa2023 E

KRT76

Costa2023:P5-1

chr12:
53165919-53165919

G

A

exonic

De novo

stopgain

NM_015848

c.C1096T

p.Q366X

22.0

-

Costa2023 E

TMEM39B

Costa2023:P5-1

chr1:
32557419-32557419

C

T

exonic

De novo

nonsynonymous SNV

NM_018056

c.C734T

p.T245M

22.7

1.0E-4

Costa2023 E

PACS2

Costa2023:P15-1

chr14:
105834449-105834449

G

A

exonic

De novo

nonsynonymous SNV

NM_001100913
NM_001243127
NM_015197

c.G625A
c.G424A
c.G625A

p.E209K
p.E142K
p.E209K

31.0

-

Costa2023 E

MSL2

Costa2023:P13-1

chr3:
135870098-135870098

C

A

exonic

De novo

nonsynonymous SNV

NM_001145417
NM_018133

c.G1403T
c.G1625T

p.S468I
p.S542I

13.83

-

Costa2023 E

INPP5B

Costa2023:P16-1

chr1:
38411952-38411952

G

A

exonic

De novo

nonsynonymous SNV

NM_005540

c.C29T

p.T10M

17.46

2.139E-5

Costa2023 E

C15orf59

Costa2023:P15-1

chr15:
74032592-74032592

C

T

exonic

De novo

nonsynonymous SNV

NM_001039614
NM_001303254

c.G548A
c.G464A

p.R183Q
p.R155Q

33.0

8.266E-6

Costa2023 E

RGS11

Costa2023:P11-1

chr16:
320762-320762

G

C

exonic

De novo

nonsynonymous SNV

NM_001286486
NM_001286485
NM_003834
NM_183337

c.C496G
c.C1015G
c.C985G
c.C1048G

p.L166V
p.L339V
p.L329V
p.L350V

7.369

-

Costa2023 E

KAT6A

Costa2023:P10-1

chr8:
41798361-41798361

T

C

exonic

De novo

nonsynonymous SNV

NM_006766

c.A3038G

p.K1013R

13.73

-

Costa2023 E

MSL2

Costa2023:P13-1

chr3:
135870081-135870081

C

G

exonic

De novo

nonsynonymous SNV

NM_001145417
NM_018133

c.G1420C
c.G1642C

p.V474L
p.V548L

9.955

-

Costa2023 E

CPOX

Costa2023:P13-1

chr3:
98312071-98312071

A

G

exonic

De novo

nonsynonymous SNV

NM_000097

c.T278C

p.F93S

12.67

-

Costa2023 E

ZNF536

Costa2023:P24-1

chr19:
30936040-30936040

G

A

exonic

De novo

stopgain

NM_014717

c.G1571A

p.W524X

38.0

-

Costa2023 E

SPHKAP

Costa2023:P24-1

chr2:
228855786-228855786

C

T

exonic

De novo

stopgain

NM_030623
NM_001142644

c.G4802A
c.G4889A

p.W1601X
p.W1630X

44.0

-

Costa2023 E

LINS1

Costa2023:P28-1

chr15:
101114236-101114236

G

C

exonic

De novo

nonsynonymous SNV

NM_001040616

c.C842G

p.S281C

13.39

5.789E-5

Costa2023 E

FBXL5

Costa2023:P28-1

chr4:
15627380-15627380

C

T

exonic

De novo

nonsynonymous SNV

NM_001193534
NM_001193535
NM_012161

c.G1342A
c.G1294A
c.G1345A

p.D448N
p.D432N
p.D449N

9.841

6.592E-5

Costa2023 E

CRAT

Costa2023:P17-1

chr9:
131860864-131860864

T

C

exonic

De novo

nonsynonymous SNV

NM_000755
NM_001257363

c.A1151G
c.A1088G

p.N384S
p.N363S

17.63

-

Costa2023 E

KMO

Costa2023:P17-1

chr1:
241725596-241725616

GTACATGGAGTTGACTATTCC

G

exonic

De novo

frameshift deletion

NM_003679

c.580_599del

p.Y194fs

-

Costa2023 E

TMEM221

Costa2023:P23-1

chr19:
17547494-17547494

G

A

exonic

De novo

nonsynonymous SNV

NM_001190844

c.C649T

p.R217W

6.027

8.427E-5

Costa2023 E

ISLR2

Costa2023:P22-1

chr15:
74426675-74426675

T

A

exonic

De novo

nonsynonymous SNV

NM_020851
NM_001130136
NM_001130137
NM_001130138

c.T1580A
c.T1580A
c.T1580A
c.T1580A

p.L527Q
p.L527Q
p.L527Q
p.L527Q

15.48

-

Costa2023 E

JAK3

Costa2023:P33-1

chr19:
17949182-17949182

C

T

exonic

De novo

nonsynonymous SNV

NM_000215

c.G1459A

p.V487M

10.2

-

Costa2023 E

SLC16A8

Costa2023:P32-1

chr22:
38477649-38477649

G

C

exonic

De novo

nonsynonymous SNV

NM_013356

c.C396G

p.I132M

16.01

-

Costa2023 E

CDH4

Costa2023:P33-1

chr20:
60508149-60508149

G

C

exonic

De novo

nonsynonymous SNV

NM_001252338
NM_001252339
NM_001794

c.G2235C
c.G2124C
c.G2346C

p.K745N
p.K708N
p.K782N

8.624

-

Costa2023 E

PDK1

Costa2023:P31-1

chr2:
173427015-173427015

T

C

exonic

De novo

nonsynonymous SNV

NM_001278549
NM_002610

c.T406C
c.T406C

p.Y136H
p.Y136H

6.775

-

Costa2023 E

ZBED4

Costa2023:P28-1

chr22:
50278316-50278316

C

G

exonic

De novo

nonsynonymous SNV

NM_014838

c.C1006G

p.R336G

13.63

-

Costa2023 E

PLCL1

Costa2023:P32-1

chr2:
199011526-199011526

A

G

exonic

De novo

nonsynonymous SNV

NM_006226

c.A3128G

p.N1043S

6.959

-

Costa2023 E

LUZP1

Costa2023:P32-1

chr1:
23419553-23419553

C

T

exonic

De novo

nonsynonymous SNV

NM_001142546
NM_033631

c.G1202A
c.G1202A

p.R401Q
p.R401Q

18.91

1.648E-5

Costa2023 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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