Variant Results

or

Results for "WDFY3"

Variant Events: 142

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

WDFY3

13393.p1

chr4:
85637357-85637357

G

A

intronic

De novo

-

Turner2016 G

WDFY3

GX0256.p1

chr4:
85781714-85781714

G

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.C31T

p.P11S

14.57

-

Guo2018 T

WDFY3

SP0064644

chr4:
85738576-85738576

G

A

exonic

nonsynonymous SNV

NM_014991

c.C1856T

p.T619M

17.67

4.0E-4

Zhou2022 GE

WDFY3

GX0518.p1

chr4:
85748022-85748022

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A1069G

p.T357A

17.71

8.254E-5

Guo2018 T

WDFY3

MT_40.3

chr4:
85696012-85696012

A

C

exonic

De novo

nonsynonymous SNV

NM_014991

c.T4715G

p.F1572C

13.94

-

Trost2022 G
Zhou2022 GE

WDFY3

13946.p1

chr4:
85753019-85753019

G

C

intronic

De novo

-

Turner2016 G

WDFY3

1-0533-003

chr4:
85722860-85722860

G

A

exonic

De novo

nonsynonymous SNV

NM_014991

c.C2765T

p.P922L

19.94

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

WDFY3

2-1152-003

Complex Event; expand row to view variants

De novo

frameshift deletion, splicing

NM_014991

c.9725delG

p.R3242fs

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

WDFY3

13094.p1

chr4:
85719152-85719152

T

A

exonic

De novo

stopgain

NM_014991

c.A2932T

p.R978X

45.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

WDFY3

M20641

chr4:
85781627-85781627

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_014991

c.C118T

p.R40W

23.4

-

Guo2018 T
Stessman2017 T
Wang2016 T

WDFY3

SD0059.p1

chr4:
85609394-85609394

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G9388A

p.V3130I

22.1

1.655E-5

Guo2018 T

WDFY3

HEN0157.p1

chr4:
85715816-85715816

G

G/T

exonic

Maternal

-

Guo2018 T

WDFY3

HEN0218.p1

chr4:
85678099-85678099

G

A/G

exonic

Maternal

-

Guo2018 T

WDFY3

M20766

chr4:
85672836-85672836

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G5773A

p.A1925T

16.43

4.119E-5

Guo2018 T
Wang2016 T

WDFY3

M8584

chr4:
85708793-85708793

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A3743G

p.Y1248C

26.6

8.241E-6

Wang2016 T

WDFY3

M10006

chr4:
85600231-85600231

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G9988A

p.D3330N

11.75

4.12E-5

Wang2016 T

WDFY3

SP0231984

chr4:
85599424-85599424

A

G

exonic

nonsynonymous SNV

NM_014991

c.T10156C

p.W3386R

24.2

8.24E-6

Zhou2022 GE

WDFY3

M26957

chr4:
85645723-85645723

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G7297A

p.V2433I

0.442

4.136E-5

Guo2018 T
Wang2016 T

WDFY3

2-0116-004

chr4:
85811295-85811295

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

GX0355.p1

chr4:
85609337-85609337

G

A

exonic

Unknown

stopgain

NM_014991

c.C9445T

p.R3149X

53.0

-

Guo2018 T

WDFY3

M8542

chr4:
85708799-85708799

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A3737G

p.Y1246C

26.2

2.472E-5

Wang2016 T

WDFY3

M23085

chr4:
85742287-85742287

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A1541G

p.H514R

9.485

-

Guo2018 T
Wang2016 T

WDFY3

M08130

chr4:
85674885-85674885

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G5704A

p.V1902I

16.56

-

Guo2018 T

WDFY3

SP0188561

chr4:
85704149-85704149

G

A

exonic

De novo

nonsynonymous SNV

NM_014991

c.C4141T

p.R1381W

19.06

-

Trost2022 G
Zhou2022 GE

WDFY3

1-0777-003

chr4:
85751600-85751600

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

M08428

chr4:
85626640-85626640

T

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.A8242T

p.T2748S

15.87

-

Guo2018 T

WDFY3

SP0239386

chr4:
85660193-85660194

CT

C

exonic

frameshift deletion

NM_014991

c.6543delA

p.P2181fs

-

Zhou2022 GE

WDFY3

SP0245193

chr4:
85731089-85731089

T

C

exonic

nonsynonymous SNV

NM_014991

c.A2296G

p.S766G

12.84

-

Zhou2022 GE

WDFY3

M08452

chr4:
85716106-85716106

G

C

exonic

Paternal

nonsynonymous SNV

NM_014991

c.C3194G

p.P1065R

24.2

-

Guo2018 T

WDFY3

SP0131494

chr4:
85717834-85717834

G

A

exonic

De novo

nonsynonymous SNV

NM_014991

c.C3007T

p.R1003W

25.1

8.238E-6

Trost2022 G
Zhou2022 GE

WDFY3

SP0063827

chr4:
85676371-85676371

C

G

intronic

De novo

-

Fu2022 E

WDFY3

SP0042780

chr4:
85611710-85611710

C

T

exonic

De novo

synonymous SNV

NM_014991

c.G9312A

p.V3104V

-

Fu2022 E
Trost2022 G
Zhou2022 GE

WDFY3

M19711

Complex Event; expand row to view variants

Paternal

frameshift deletion, frameshift insertion

NM_014991
NM_014991

c.5525dupT
c.5518_5525del

p.L1842fs
p.V1840fs

-

Guo2018 T
Wang2016 T

WDFY3

SP0081490

chr4:
85710825-85710825

C

A

intronic

De novo

-

Fu2022 E

WDFY3

SP0065253

chr4:
85707075-85707075

T

G

intronic

De novo

-

Fu2022 E

WDFY3

M8650

chr4:
85598427-85598427

G

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.C10382T

p.S3461L

19.6

3.297E-5

Wang2016 T

WDFY3

SP0005392

chr4:
85731485-85731485

C

G

exonic

De novo

nonsynonymous SNV

NM_014991

c.G1900C

p.V634L

29.0

-

Fu2022 E
Zhou2022 GE

WDFY3

AU070A

chr4:
85609385-85609385

C

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.G9397A

p.A3133T

15.65

1.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

WDFY3

09C96721

chr4:
85742365-85742365

T

A

exonic

De novo

nonsynonymous SNV

NM_014991

c.A1463T

p.K488M

23.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

WDFY3

M15222

chr4:
85672820-85672820

G

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.C5789T

p.A1930V

23.8

2.471E-5

Guo2018 T
Wang2016 T

WDFY3

M12352

chr4:
85741301-85741301

G

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.C1630T

p.H544Y

15.96

2.474E-5

Guo2018 T
Wang2016 T

WDFY3

Chen2021:77

chr4:
85626562-85626562

A

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.T8320A

p.W2774R

23.3

-

Chen2021 GET

WDFY3

13094.p1

chr4:
85715777-85715777

G

A

exonic

De novo

stopgain

NM_014991

c.C3382T

p.R1128X

44.0

-

Willsey2013 E

WDFY3

M10006

chr4:
85750232-85750232

C

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.G881A

p.S294N

34.0

3.304E-5

Stessman2017 T
Wang2016 T

WDFY3

AU1860302

chr4:
85871052-85871052

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

SSC06712

chr4:
85719152-85719152

T

A

exonic

De novo

stopgain

NM_014991

c.A2932T

p.R978X

45.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

WDFY3

M08852

chr4:
85661457-85661457

A

T

exonic

Unknown

nonsynonymous SNV

NM_014991

c.T6347A

p.L2116Q

31.0

-

Guo2018 T
Wang2016 T

WDFY3

M26796

chr4:
85741302-85741302

T

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A1629T

p.K543N

13.8

-

Guo2018 T
Wang2016 T

WDFY3

M23757

chr4:
85661476-85661476

C

T

exonic

Unknown

nonsynonymous SNV

NM_014991

c.G6328A

p.V2110I

13.55

9.06E-5

Wang2016 T

WDFY3

2-1357-003

chr4:
85678384-85678384

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

AU1223303

chr4:
85789842-85789842

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

1-0045-004

chr4:
85878358-85878358

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

2-1693-003

chr4:
85617692-85617692

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

M8428

chr4:
85626640-85626640

T

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.A8242T

p.T2748S

15.87

-

Wang2016 T

WDFY3

2-1325-003

chr4:
85786071-85786071

C

T

intronic

De novo

-

Yuen2017 G

WDFY3

HEN0005.p1

chr4:
85678252-85678252

A

C

exonic

Paternal

nonsynonymous SNV

NM_014991

c.T5251G

p.C1751G

18.16

0.0012

Guo2018 T

WDFY3

HEN0064.p1

chr4:
85598439-85598439

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G10370A

p.G3457D

13.42

-

Guo2018 T

WDFY3

HN0149.p1

chr4:
85676502-85676502

C

C/T

exonic

Paternal

-

Guo2018 T

WDFY3

AU2182302

chr4:
85708747-85708747

C

T

exonic

Inherited

stopgain

NM_014991

c.G3789A

p.W1263X

46.0

-

Stessman2017 T

WDFY3

HEN0150.p1

chr4:
85605205-85605205

T

C

exonic

Paternal

nonsynonymous SNV

NM_014991

c.A9617G

p.N3206S

19.96

-

Guo2018 T

WDFY3

SP0000607

chr4:
85611791-85611791

A

C

exonic

De novo

synonymous SNV

NM_014991

c.T9231G

p.S3077S

-

Feliciano2019 E
Trost2022 G
Zhou2022 GE

WDFY3

211-5601-3

chr4:
85639690-85639690

C

T

exonic

Inherited

nonsynonymous SNV

NM_014991

c.G7639A

p.G2547S

36.0

-

Stessman2017 T

WDFY3

SSC00484

chr4:
85630453-85630453

C

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.G8090A

p.R2697K

20.8

-

Fu2022 E
Trost2022 G

WDFY3

HEN0171.p1

chr4:
85594140-85594140

T

C/T

exonic

Unknown

-

Guo2018 T

WDFY3

12044_p1

chr4:
85715777-85715777

G

A

exonic

De novo

stopgain

NM_014991

c.C3382T

p.R1128X

44.0

-

Fu2022 E

WDFY3

M08584

chr4:
85708793-85708793

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A3743G

p.Y1248C

26.6

8.241E-6

Guo2018 T

WDFY3

M12507

chr4:
85605205-85605205

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A9617G

p.N3206S

19.96

-

Guo2018 T

WDFY3

7-0011-003

chr4:
85594385-85594385

C

CA

intronic

De novo

-

Trost2022 G

WDFY3

M13368

chr4:
85742657-85742657

A

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.T1171G

p.F391V

25.4

-

Guo2018 T

WDFY3

M08542

chr4:
85708799-85708799

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A3737G

p.Y1246C

26.2

2.472E-5

Guo2018 T

WDFY3

A4F4T

chr4:
85654657-85654657

C

T

exonic

Unknown

nonsynonymous SNV

NM_014991

c.G7099A

p.D2367N

26.2

2.472E-5

Stessman2017 T

WDFY3

M08641

chr4:
85731103-85731103

G

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.C2282T

p.T761M

14.25

5.768E-5

Guo2018 T

WDFY3

MSSNG00367-003

chr4:
85747665-85747665

C

T

intronic

De novo

-

Trost2022 G

WDFY3

2-1097-003

chr4:
85781926-85781927

CA

TT

intronic

De novo

-

Trost2022 G

WDFY3

MSSNG00040-003

chr4:
85671998-85671998

C

A

intronic

De novo

-

Trost2022 G

WDFY3

5-0009-003

chr4:
85728857-85728858

AT

A

intronic

De novo

-

Trost2022 G

WDFY3

4-0073-003

chr4:
85627393-85627395

TAA

ATT

intronic

De novo

-

Trost2022 G

WDFY3

7-0354-005

chr4:
85664594-85664594

T

C

intronic

De novo

-

Trost2022 G

WDFY3

MSSNG00256-005

chr4:
85597712-85597712

G

A

intronic

De novo

-

Trost2022 G

WDFY3

5-5040-003

chr4:
85599943-85599943

G

T

intronic

De novo

-

Trost2022 G

WDFY3

M17490

chr4:
85617311-85617311

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G8713A

p.A2905T

16.61

-

Guo2018 T
Wang2016 T

WDFY3

A0245

chr4:
85626562-85626562

A

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.T8320A

p.W2774R

23.3

-

Xiong2019 ET

WDFY3

M8130

chr4:
85674885-85674885

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G5704A

p.V1902I

16.56

-

Wang2016 T

WDFY3

HN0082.p1

chr4:
85750250-85750250

C

A

exonic

De novo

nonsynonymous SNV

NM_014991

c.G863T

p.C288F

26.6

-

Guo2018 T

WDFY3

4-0084-003

chr4:
85854967-85854967

A

G

intronic

De novo

-

Trost2022 G

WDFY3

M17563

chr4:
85603536-85603536

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G9814A

p.A3272T

13.99

-

Guo2018 T
Wang2016 T

WDFY3

M23199

chr4:
85748081-85748081

T

C

exonic

Paternal

nonsynonymous SNV

NM_014991

c.A1010G

p.N337S

16.3

-

Guo2018 T
Wang2016 T

WDFY3

REACH000249

chr4:
85795388-85795388

A

G

intronic

De novo

-

Trost2022 G

WDFY3

MT_61.3

chr4:
85811577-85811577

G

T

intronic

De novo

-

Trost2022 G

WDFY3

M14999

chr4:
85676502-85676502

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G5476A

p.G1826R

22.4

5.772E-5

Guo2018 T
Wang2016 T

WDFY3

5-5233-003

chr4:
85787322-85787322

A

G

intronic

De novo

-

Trost2022 G

WDFY3

M23266

chr4:
85715830-85715830

T

C

exonic

Paternal

nonsynonymous SNV

NM_014991

c.A3329G

p.H1110R

8.928

-

Wang2016 T

WDFY3

1-1138-003

chr4:
85794521-85794521

T

C

intronic

De novo

-

Trost2022 G

WDFY3

11185.p1

chr4:
85630453-85630453

C

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.G8090A

p.R2697K

20.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

WDFY3

1-0995-003

chr4:
85623790-85623790

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

12044.p1

chr4:
85715777-85715777

G

A

exonic

De novo

stopgain

NM_014991

c.C3382T

p.R1128X

44.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

WDFY3

SX0018.p1

chr4:
85704149-85704149

G

A

exonic

De novo

nonsynonymous SNV

NM_014991

c.C4141T

p.R1381W

19.06

-

Guo2018 T

WDFY3

M8452

chr4:
85716106-85716106

G

C

exonic

Unknown

nonsynonymous SNV

NM_014991

c.C3194G

p.P1065R

24.2

-

Wang2016 T

WDFY3

MAC1246

chr4:
85781534-85781534

G

A

intronic

De novo

-

2.568E-5

Satterstrom2020 E
Trost2022 G

WDFY3

11905.p1

chr4:
85699715-85699715

G

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.C4459A

p.H1487N

18.17

-

Ji2016 E

WDFY3

1-0261-003

chr4:
85731437-85731437

C

T

exonic

De novo

nonsynonymous SNV

NM_014991

c.G1948A

p.G650R

34.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

WDFY3

14028.p1

chr4:
85887056-85887056

T

TTCCGC

intronic

De novo

-

Wilfert2021 G

WDFY3

M30862

chr4:
85609276-85609276

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G9506A

p.R3169Q

13.67

5.78E-5

Guo2018 T

WDFY3

HN0060.p1

chr4:
85600258-85600258

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G9961A

p.A3321T

2.663

1.652E-5

Guo2018 T

WDFY3

GX0041.p1

chr4:
85654590-85654590

A

G

exonic

Paternal

nonsynonymous SNV

NM_014991

c.T7166C

p.M2389T

10.14

5.0E-4

Guo2018 T

WDFY3

GX0113.p1

chr4:
85617241-85617241

A

G

exonic

Paternal

nonsynonymous SNV

NM_014991

c.T8783C

p.V2928A

18.21

-

Guo2018 T

WDFY3

GX0490.p1

chr4:
85731407-85731407

C

G

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G1978C

p.A660P

35.0

-

Guo2018 T

WDFY3

GX0487.p1

chr4:
85724610-85724610

G

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.C2440T

p.H814Y

10.87

-

Guo2018 T

WDFY3

GX0299.p1

chr4:
85715779-85715779

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G3380A

p.R1127H

24.0

6.603E-5

Guo2018 T

WDFY3

GX0423.p1

chr4:
85672836-85672836

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G5773A

p.A1925T

16.43

4.119E-5

Guo2018 T

WDFY3

M12474

chr4:
85750232-85750232

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G881A

p.S294N

34.0

3.304E-5

Wang2016 T

WDFY3

GX0253.p1

chr4:
85657441-85657441

G

A

exonic

Paternal

nonsynonymous SNV

NM_014991

c.C6797T

p.A2266V

5.011

-

Guo2018 T

WDFY3

M32128

chr4:
85704134-85704134

C

T

exonic

Paternal

nonsynonymous SNV

NM_014991

c.G4156A

p.A1386T

10.06

2.472E-5

Guo2018 T

WDFY3

GX0024.p1

chr4:
85676502-85676502

C

C/T

exonic

Paternal

-

Guo2018 T

WDFY3

M18477

chr4:
85678225-85678225

G

A

exonic

De novo

stopgain

NM_014991

c.C5278T

p.Q1760X

49.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

WDFY3

SSC04194

chr4:
85715777-85715777

G

A

exonic

stopgain

NM_014991

c.C3382T

p.R1128X

44.0

-

Antaki2022 GE

WDFY3

SP0015783

chr4:
85623601-85623601

G

C

exonic

De novo

stopgain

NM_014991

c.C8501G

p.S2834X

26.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

WDFY3

iHART1820

chr4:
85609286-85609286

G

A

exonic

Paternal

stopgain

NM_014991

c.C9496T

p.R3166X

52.0

-

Ruzzo2019 G

WDFY3

SP0139290

chr4:
85639601-85639601

T

C

exonic

De novo

nonsynonymous SNV

NM_014991

c.A7728G

p.I2576M

18.77

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

WDFY3

SP0032280

chr4:
85625534-85625534

A

C

exonic

De novo

nonsynonymous SNV

NM_014991

c.T8399G

p.L2800R

21.0

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

WDFY3

HEN0307.p1

chr4:
85626614-85626614

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G8268A

p.M2756I

34.0

-

Guo2018 T

WDFY3

Wang2023:160

chr4:
85741250-85741250

T

C

exonic

De novo

nonsynonymous SNV

NM_014991

c.A1681G

p.N561D

16.75

-

Wang2023 E

WDFY3

M13329

chr4:
85626614-85626614

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G8268A

p.M2756I

34.0

-

Guo2018 T
Wang2016 T

WDFY3

HEN0223.p1

chr4:
85758113-85758113

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G545A

p.R182H

34.0

-

Guo2018 T

WDFY3

Costa2023:P3-1

chr4:
85636495-85636495

G

T

exonic

De novo

stopgain

NM_014991

c.C7917A

p.Y2639X

24.7

-

Costa2023 E

WDFY3

M23102

chr4:
85717801-85717801

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G3040A

p.G1014R

33.0

-

Guo2018 T
Wang2016 T

WDFY3

mAGRE1820

chr4:
85609286-85609286

G

A

exonic

Paternal

stopgain

NM_014991

c.C9496T

p.R3166X

52.0

-

Cirnigliaro2023 G

WDFY3

AU4056302

chr4:
85814257-85814257

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

WDFY3

Mahjani2021:109

chr4:
85609277-85609277

G

A

exonic

stopgain

NM_014991

c.C9505T

p.R3169X

52.0

-

Mahjani2021 E

WDFY3

M16097

chr4:
85598427-85598427

G

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.C10382T

p.S3461L

19.6

3.297E-5

Wang2016 T

WDFY3

M20709

chr4:
85731103-85731103

G

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.C2282T

p.T761M

14.25

5.768E-5

Guo2018 T
Wang2016 T

WDFY3

SP0016459

chr4:
85724402-85724402

T

C

intronic

De novo

-

9.279E-6

Fu2022 E

WDFY3

Uddin2014:32

chr4:
85719152-85719152

T

A

exonic

De novo

stopgain

NM_014991

c.A2932T

p.R978X

45.0

-

Uddin2014 E

WDFY3

GX0150.p1

chr4:
85661491-85661491

G

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.C6313T

p.R2105W

21.1

-

Guo2018 T

WDFY3

MSSNG00382-003

chr4:
85599401-85599401

C

T

exonic

De novo

synonymous SNV

NM_014991

c.G10179A

p.R3393R

-

Trost2022 G
Zhou2022 GE

WDFY3

HN0045.p1

chr4:
85654590-85654590

A

G

exonic

Maternal

nonsynonymous SNV

NM_014991

c.T7166C

p.M2389T

10.14

5.0E-4

Guo2018 T

WDFY3

GX0414.p1

chr4:
85708833-85708833

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G3703A

p.G1235S

14.11

-

Guo2018 T

WDFY3

SP0129201

chr4:
85664851-85664851

A

G

splicing

23.8

-

Zhou2022 GE

WDFY3

GX0330.p1

chr4:
85696278-85696278

G

A

exonic

Maternal

nonsynonymous SNV

NM_014991

c.C4532T

p.A1511V

23.3

-

Guo2018 T

WDFY3

5-5159-003

chr4:
85623500-85623500

A

G

intronic

De novo

-

Trost2022 G
Zhou2022 GE

WDFY3

HN0121.p1

chr4:
85605260-85605260

C

T

exonic

Maternal

nonsynonymous SNV

NM_014991

c.G9562A

p.A3188T

17.91

8.353E-6

Guo2018 T

WDFY3

M32004

chr4:
85600180-85600180

T

C

exonic

Maternal

nonsynonymous SNV

NM_014991

c.A10039G

p.I3347V

2.553

-

Guo2018 T

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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