Variant Results

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0065-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-0214-003

chr12:
75931458-75931458

A

G

intergenic

De novo

-

Yuen2017 G

KRR1

AU2140305

chr12:
76418080-76418080

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0191-003

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

2-1318-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-1627-003

chr12:
76170525-76170525

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0158-003

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

2-1093-009

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

AU3806304

chr12:
76245754-76245754

A

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0329-003

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

1-0158-003

chr12:
76218689-76218689

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-0300-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

7-0255-003

chr12:
76349653-76349653

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-1174-005B

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

2-0057-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0826-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

5-0055-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0373-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

A17

chr12:
76402374-76402374

C

T

intergenic

De novo

-

Wu2018 G

KRR1

2-0208-004

chr12:
76054410-76054410

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-0208-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0150-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-0215-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-1174-006

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

7-0002-003

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

1-0551-003

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

AU031003

chr12:
75959751-75959751

A

T

intergenic

De novo

-

Yuen2017 G

KRR1

1-0173-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-1398-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

5-0014-003

chr12:
75931461-75931461

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

AU1355301

chr12:
76314523-76314523

G

T

intergenic

De novo

-

Yuen2017 G

KRR1

AU1952305

chr12:
76042254-76042254

A

T

intergenic

De novo

-

Yuen2017 G

KRR1

1-0862-003

chr12:
75931311-75931311

T

TAGAAGA

intergenic

De novo

-

Yuen2017 G

KRR1

1-0400-003

chr12:
76365873-76365873

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KRR1

2-1093-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

A23

chr12:
75998852-75998852

A

G

intergenic

De novo

-

Wu2018 G

KRR1

2-0063-003

chr12:
76033207-76033207

G

T

intergenic

De novo

-

Yuen2017 G

KRR1

iHART2043

chr12:
75900131-75900133

CTG

C

exonic

Maternal

frameshift deletion

NM_007043

c.566_567del

p.T189fs

-

8.338E-6

Ruzzo2019 G

KRR1

2-1508-004

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

2-0503-004

chr12:
75917957-75917957

G

T

intergenic

De novo

-

Yuen2017 G

KRR1

2-1456-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

5-0146-003

chr12:
76335021-76335021

C

T

intergenic

De novo

-

Yuen2017 G

KRR1

2-1283-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

14134.p1

chr12:
75897714-75897714

C

T

exonic

Mosaic, De novo

synonymous SNV

NM_007043

c.G801A

p.T267T

-

1.651E-5

Dou2017 E
Krumm2015 E

KRR1

1-0354-003

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

2-1644-004

T

C

intergenic

De novo

-

Yuen2017 G

KRR1

1-0259-005

C

CTCTGATCCCCAAATGCT

intergenic

De novo

-

Yuen2017 G

KRR1

1-0329-004