Variant Results

chr11:
126339822-126339825

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E

KIRREL3

AU2072302

CAGA

CA

intronic

De novo

-

Yuen2017 G

KIRREL3

1424JS0003

chr11:
126333180-126333180

C

T

exonic

De novo

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G614A
c.G614A
c.G614A

p.R205Q
p.R205Q
p.R205Q

25.4

1.687E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

KIRREL3

214-17025-1

chr11:
126314933-126314933

C

A

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G1193T
c.G1193T
c.G1193T

p.C398F
p.C398F
p.C398F

27.6

-

Stessman2017 T

KIRREL3

2-0149-003

chr11:
126383438-126383438

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

Li2017:19544

chr11:
126310415-126310415

G

T

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1282A
c.C1282A
c.C1282A

p.Q428K
p.Q428K
p.Q428K

33.0

6.043E-5

Li2017 T

KIRREL3

Li2017:16257

chr11:
126310360-126310360

G

A

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1337T
c.C1337T
c.C1337T

p.P446L
p.P446L
p.P446L

36.0

3.458E-5

Li2017 T

KIRREL3

M26986

chr11:
126314949-126314949

C

T

exonic

Paternal

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G1177A
c.G1177A
c.G1177A

p.A393T
p.A393T
p.A393T

30.0

3.318E-5

Guo2018 T
Wang2016 T

KIRREL3

M20306

chr11:
126314948-126314948

G

A

exonic

Maternal

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1178T
c.C1178T
c.C1178T

p.A393V
p.A393V
p.A393V

36.0

2.489E-5

Guo2018 T
Wang2016 T

KIRREL3

1-0296-004

chr11:
126292497-126292497

T

G

downstream

De novo

-

Yuen2017 G

KIRREL3

2-1605-003

chr11:
126733511-126733511

T

TAA

intronic

De novo

-

Yuen2017 G

KIRREL3

2-1093-009

chr11:
126389841-126389841

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

13946.p1

chr11:
126569180-126569180

G

T

intronic

De novo

-

Turner2016 G

KIRREL3

1-0161-003

chr11:
126733553-126733553

T

C

intronic

De novo

-

Yuen2017 G

KIRREL3

SSC06043

C

T

exonic

De novo

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G482A
c.G482A
c.G482A

p.R161H
p.R161H
p.R161H

24.9

chr11:
126713538-126713538

Fu2022 E
Lim2017 E

KIRREL3

AU4159301

G

T

intronic

De novo

-

Yuen2017 G

KIRREL3

1-0403-004

chr11:
126309742-126309742

A

AC

intronic

De novo

-

Yuen2017 G

KIRREL3

AU4089302

chr11:
126701555-126701555

T

G

intronic

De novo

-

Yuen2017 G

KIRREL3

PN400385

chr11:
126352514-126352514

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E

KIRREL3

11729.p1

G

A

intronic

De novo

-

Wilfert2021 G

KIRREL3

AU4099301

chr11:
126688433-126688433

T

G

intronic

De novo

-

Yuen2017 G

KIRREL3

74-0075

chr11:
126293122-126293122

A

G

downstream

De novo

-

Michaelson2012 G

KIRREL3

216-4485-1

chr11:
126333051-126333051

C

T

splicing

Maternal

splicing

17.98

-

Stessman2017 T

KIRREL3

2-0240-004

chr11:
126757532-126757532

G

A

intronic

De novo

-

Yuen2017 G

KIRREL3

PN400488

chr11:
126326317-126326317

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E

KIRREL3

217-14123-2170

G

A

exonic

Maternal

stopgain

NM_001161707
NM_001301097
NM_032531

c.C775T
c.C775T
c.C775T

p.Q259X
p.Q259X
p.Q259X

18.41

-

Stessman2017 T

KIRREL3

AU3964302

chr11:
126493376-126493376

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

Li2017:17599

chr11:
126333072-126333072

G

A

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C722T
c.C722T
c.C722T

p.S241L
p.S241L
p.S241L

15.21

5.831E-5

Li2017 T

KIRREL3

217-14183-2990

chr11:
126306790-126306790

G

A

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1468T
c.C1468T
c.C1468T

p.R490W
p.R490W
p.R490W

19.37

7.53E-5

Stessman2017 T

KIRREL3

AU3811305

chr11:
126740537-126740537

G

A

intronic

De novo

-

Yuen2017 G

KIRREL3

5-0017-003

chr11:
126733553-126733553

T

C

intronic

De novo

-

Yuen2017 G

KIRREL3

08C78417

C

T

exonic

De novo

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G482A
c.G482A
c.G482A

p.R161H
p.R161H
p.R161H

24.9

chr11:
126684334-126684334

Fu2022 E
Satterstrom2020 E

KIRREL3

2-1408-004

A

G

intronic

De novo

-

Yuen2017 G

KIRREL3

2-1255-003

C

T

exonic

De novo

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G482A
c.G482A
c.G482A

p.R161H
p.R161H
p.R161H

24.9

chr11:
126838725-126838725

Yuen2016 G

KIRREL3

2-0225-004

G

C

intronic

De novo

-

Yuen2017 G

KIRREL3

AU3808304

chr11:
126706098-126706098

G

T

intronic

De novo

-

Yuen2017 G

KIRREL3

2-1421-003

chr11:
126459269-126459269

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KIRREL3

AU1668302

chr11:
126750166-126750166

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

PN400528

chr11:
126507475-126507475

C

A

exonic

Inherited, Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E
Leblond2019 E

KIRREL3

2-0145-003

G

GA

intronic

De novo

-

Yuen2017 G

KIRREL3

2-0503-004

chr11:
126300371-126300371

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

AU3903301

chr11:
126386481-126386481

A

G

intronic

De novo

-

Yuen2017 G

KIRREL3

Li2017:20306

chr11:
126314948-126314948

G

A

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1178T
c.C1178T
c.C1178T

p.A393V
p.A393V
p.A393V

36.0

2.489E-5

Li2017 T

KIRREL3

AU3852301

chr11:
126566690-126566690

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

AU4012302

chr11:
126376077-126376077

T

C

intronic

De novo

-

Yuen2017 G

KIRREL3

PN400116

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E

KIRREL3

PN400556

chr11:
126850795-126850795

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E

KIRREL3

AU046707

G

A

intronic

De novo

-

Yuen2017 G

KIRREL3

M16257

chr11:
126310360-126310360

G

A

exonic

Maternal

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1337T
c.C1337T
c.C1337T

p.P446L
p.P446L
p.P446L

36.0

3.458E-5

Guo2018 T

KIRREL3

5-0041-003

chr11:
126598626-126598626

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

AU0638302

chr11:
126320744-126320744

G

C

intronic

De novo

-

Yuen2017 G

KIRREL3

PN400272

chr11:
126316705-126316705

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301097
NM_001161707
NM_032531

c.G1649T
c.G1685T
c.G1685T

p.R550L
p.R562L
p.R562L

32.0

-

Leblond2019 E

KIRREL3

Li2017:27844

C

A

exonic

Unknown

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G1074T
c.G1074T
c.G1074T

p.W358C
p.W358C
p.W358C

21.1

-

Li2017 T

KIRREL3

2-0109-003

chr11:
126766088-126766088

A

G

intronic

De novo

-

Yuen2017 G

KIRREL3

AU4103301

chr11:
126324297-126324297

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

08C76914

chr11:
126333180-126333180

C

T

exonic

De novo

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G614A
c.G614A
c.G614A

p.R205Q
p.R205Q
p.R205Q

25.4

1.687E-5

Neale2012 E

KIRREL3

AU4145303

chr11:
126859116-126859116

A

G

intronic

De novo

-

Yuen2017 G

KIRREL3

1-0433-003

chr11:
126784939-126784939

C

G

intronic

De novo

-

Yuen2017 G

KIRREL3

2-0244-004

chr11:
126446181-126446182

TG

T

intronic

De novo

-

Yuen2017 G

KIRREL3

1-0433-003

chr11:
126732197-126732197

A

G

intronic

De novo

-

Yuen2017 G

KIRREL3

12644.p1

C

T

exonic

De novo

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.G482A
c.G482A
c.G482A

p.R161H
p.R161H
p.R161H

24.9

chr11:
126310415-126310415

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

KIRREL3

M19544

G

T

exonic

Paternal

nonsynonymous SNV

NM_001161707
NM_001301097
NM_032531

c.C1282A
c.C1282A
c.C1282A

p.Q428K
p.Q428K
p.Q428K

33.0

6.043E-5

Guo2018 T

KIRREL3

2-0503-003

chr11:
126300371-126300371

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

7-0130-003

chr11:
126788345-126788345

C

T

intronic

De novo

-

Yuen2017 G

KIRREL3

PN400564