Variant Results

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0305-004

C

A

intronic

De novo

-

Yuen2017 G

PHKB

iHART1810

chr16:
47630336-47630336

T

A

exonic

Paternal

stopgain

NM_000293
NM_001031835

c.T1257A
c.T1236A

p.Y419X
p.Y412X

37.0

5.777E-5

Ruzzo2019 G

PHKB

1-0295-003

chr16:
47778346-47778346

C

G

intergenic

De novo

-

Yuen2017 G

PHKB

1-0305-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

iHART2111

chr16:
47545681-47545681

C

T

exonic

Paternal

stopgain

NM_000293
NM_001031835

c.C511T
c.C490T

p.Q171X
p.Q164X

21.1

-

Ruzzo2019 G

PHKB

1-0756-005

C

A

intronic

De novo

-

Yuen2017 G

PHKB

2-1258-003

chr16:
47852391-47852391

T

C

intergenic

De novo

-

Yuen2017 G

PHKB

AU2089301

chr16:
47669602-47669602

C

T

intronic

De novo

-

Yuen2017 G

PHKB

1-0079-008

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1505-003

CGT

C

intronic

De novo

-

Yuen2017 G

PHKB

A31

chr16:
47879689-47879689

C

T

intergenic

De novo

-

Wu2018 G

PHKB

1-0126-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

AU066104

chr16:
47572333-47572333

T

G

intronic

De novo

-

Yuen2017 G

PHKB

2-1215-003

chr16:
47538719-47538719

A

G

intronic

De novo

-

Yuen2017 G

PHKB

1-0065-004

C

A

intronic

De novo

-

Yuen2017 G

PHKB

SP0018789

chr16:
47698814-47698814

G

A

exonic

De novo

synonymous SNV

NM_000293

c.G2355A

p.G785G

-

Feliciano2019 E
Fu2022 E

PHKB

2-1128-003

chr16:
47762905-47762905

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PHKB

1-0395-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-0272-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0169-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

AU4079302

chr16:
47735241-47735241

C

T

UTR3

De novo

-

Yuen2017 G

PHKB

AU1933302

chr16:
47647079-47647079

C

G

intronic

De novo

-

Yuen2017 G

PHKB

1-0625-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0683-004

chr16:
47538775-47538775

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1089-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0144-005

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0126-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1440-003

chr16:
47552181-47552195

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

Yuen2017 G

PHKB

11216.p1

chr16:
47699978-47699978

C

T

intronic

De novo

-

Satterstrom2020 E

PHKB

1-0625-003

C

A

intronic

De novo

-

Yuen2017 G

PHKB

AU3809302

chr16:
47792719-47792719

T

G

intergenic

De novo

-

Yuen2017 G

PHKB

1-0139-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1174-005B

CGT

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1176-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-0242-005

T

C

intronic

De novo

-

Yuen2017 G

PHKB

TRE_2471

chr16:
47733252-47733252

A

G

exonic

De novo

nonsynonymous SNV

NM_000293
NM_001031835

c.A3257G
c.A3236G

p.N1086S
p.N1079S

4.232

1.647E-5

Fu2022 E

PHKB

2-0135-003

C

A

intronic

De novo

-

Yuen2017 G

PHKB

1-0006-003

chr16:
47748290-47748290

A

G

intergenic

De novo

-

Yuen2017 G

PHKB

1-0049-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0218-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

AU018010

chr16:
47576070-47576070

G

A

intronic

De novo

-

Yuen2017 G

PHKB

1-0406-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0139-005

T

C

intronic

De novo

-

Yuen2017 G

PHKB

12189.p1

chr16:
47495300-47495300

G

A

exonic

Mosaic

stopgain

NM_000293

c.G39A

p.W13X

37.0

0.0025

Dou2017 E

PHKB

2-1275-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0395-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

5-0033-004

chr16:
47538719-47538719

A

G

intronic

De novo

-

Yuen2017 G

PHKB

5-0033-004

C

A

intronic

De novo

-

Yuen2017 G

PHKB

2-1619-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1306-004

C

A

intronic

De novo

-

Yuen2017 G

PHKB

SP0083914

chr16:
47732501-47732501

T

C

splicing

De novo

splicing

20.1

-

Fu2022 E

PHKB

2-1174-006

CGT

C

intronic

De novo

-

Yuen2017 G

PHKB

SP0045624

chr16:
47684569-47684569

T

G

intronic

De novo

-

Fu2022 E

PHKB

2-0145-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1567-004

chr16:
47538924-47538924

A

G

intronic

De novo

-

Yuen2017 G

PHKB

2-1620-004

chr16:
47875184-47875184

T

C

intergenic

De novo

-

Yuen2017 G

PHKB

2-0242-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0261-003

C

A

intronic

De novo

-

Yuen2017 G

PHKB

2-1505-004

CGT

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0862-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-0127-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0299-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

3-0227-000

chr16:
47614206-47614206

C

G

exonic

De novo

nonsynonymous SNV

NM_000293
NM_001031835

c.C711G
c.C690G

p.S237R
p.S230R

14.05

-

Tammimies2015 E

PHKB

2-0272-004

T

C

intronic

De novo

-

Yuen2017 G

PHKB

AU076808

chr16:
47862921-47862921

A

G

intergenic

De novo

-

Yuen2017 G

PHKB

1-0052-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

5-0003-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

1-0054-004

chr16:
47539121-47539121

T

C

intronic

De novo

-

Yuen2017 G

PHKB

5-0026-003

C

A

intronic

De novo

-

Yuen2017 G

PHKB

1-0180-004

C

A

intronic

De novo

-

Yuen2017 G

PHKB

7-0082-003

T

C

intronic

De novo

-

Yuen2017 G

PHKB

2-1416-004

chr16:
47539270-47539270

C

T

intronic

De novo

-

Yuen2017 G

PHKB

1-0534-004