Variant Results

AGAGT

A

exonic

Paternal

frameshift deletion

NM_176877

c.5377_5378del

p.E1793fs

-

Cirnigliaro2023 G

PATJ

2-1086-004

chr1:
62602478-62602478

G

C

intronic

De novo

-

Trost2022 G

PATJ

mAGRE1751

AGAGT

A

exonic

Paternal

frameshift deletion

NM_176877

c.5377_5378del

p.E1793fs

-

Cirnigliaro2023 G

PATJ

2-1086-004

chr1:
62602474-62602474

T

TC

intronic

De novo

-

Trost2022 G

PATJ

AU3368303

chr1:
62550218-62550219

CG

C

exonic

Paternal

frameshift deletion

NM_176877

c.4276delG

p.A1426fs

-

Cirnigliaro2023 G

PATJ

MSSNG00421-004

chr1:
62497156-62497156

G

T

intronic

De novo

-

Trost2022 G

PATJ

AU3368302

chr1:
62550218-62550219

CG

C

exonic

Paternal

frameshift deletion

NM_176877

c.4276delG

p.A1426fs

-

Cirnigliaro2023 G

PATJ

5-5146-003

chr1:
62494820-62494820

T

C

intronic

De novo

-

Trost2022 G

PATJ

mAGRE1912

chr1:
62366953-62366953

G

A

splicing

Paternal

splicing

23.0

8.667E-6

Cirnigliaro2023 G

PATJ

1-0630-003

chr1:
62548795-62548795

C

CGTT

intronic

De novo

-

Trost2022 G

PATJ

mAGRE2411

chr1:
62241004-62241004

C

T

exonic

Maternal

stopgain

NM_176877

c.C847T

p.R283X

39.0

8.27E-6

Cirnigliaro2023 G

PATJ

7-0141-003

chr1:
62588653-62588653

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

3-0795-000

chr1:
62503355-62503355

T

G

intronic

De novo

-

Trost2022 G

PATJ

3-0515-000

chr1:
62624235-62624235

T

C

intronic

De novo

-

Trost2022 G

PATJ

AU3786301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PATJ

AU057503

chr1:
62624130-62624130

A

G

intronic

De novo

-

Trost2022 G

PATJ

3-0515-000

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

1-0289-003

chr1:
62624235-62624235

T

C

intronic

De novo

-

Trost2022 G

PATJ

5-0055-004

chr1:
62623380-62623381

CC

GT

intronic

De novo

-

Trost2022 G

PATJ

5-0055-004

chr1:
62623374-62623375

GT

AC

intronic

De novo

-

Trost2022 G

PATJ

5-0055-004

chr1:
62623389-62623389

G

A

intronic

De novo

-

Trost2022 G

PATJ

5-0055-004

chr1:
62623385-62623385

C

A

intronic

De novo

-

Trost2022 G

PATJ

1-0197-004

chr1:
62657831-62657831

T

C

intergenic

De novo

-

Yuen2017 G

PATJ

1-0289-003

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

2-1168-003

chr1:
62445134-62445134

G

A

intronic

De novo

-

Yuen2017 G

PATJ

1-0332-003

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

2-1339-003

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

Cukier2014:17122

chr1:
62582847-62582847

C

G

exonic

Unknown

nonsynonymous SNV

NM_176877

c.C4847G

p.A1616G

18.62

0.013

Cukier2014 E

PATJ

1-0337-003

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

2-1562-004

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

2-1562-003

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

2-0144-004

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

1-0329-004

CA

TG

intronic

De novo

-

Trost2022 G

PATJ

5-0015-004

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

11490.p1

chr1:
62327208-62327208

G

T

intronic

De novo

-

Krumm2015 E

PATJ

1-0289-003

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

2-0144-004

GGTG

CGCT

intronic

De novo

-

Trost2022 G

PATJ

1-0329-004

GGTG

CGCT

intronic

De novo

-

Trost2022 G

PATJ

1-0329-004

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

2-1562-004

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

1-0332-003

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

2-0144-004

GTG

ATA

intronic

De novo

-

Trost2022 G

PATJ

AU3053302

chr1:
62378948-62378948

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

SP0044098

chr1:
62374032-62374032

T

G

intronic

De novo

-

Fu2022 E

PATJ

SP0034904

chr1:
62588733-62588733

A

G

intronic

De novo

-

Fu2022 E
Zhou2022 GE

PATJ

AU0636303

chr1:
62325251-62325251

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

SP0078543

chr1:
62614103-62614103

C

A

intronic

De novo

-

Fu2022 E

PATJ

2-1347-003

GGTG

CGCT

intronic

De novo

-

Trost2022 G

PATJ

1-0219-003

chr1:
62291136-62291136

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

2-0142-004

GGTG

CGCT

intronic

De novo

-

Trost2022 G

PATJ

2-1347-003

chr1:
62624317-62624319

GGC

TGA

intronic

De novo

-

Trost2022 G

PATJ

2-0142-004

chr1:
62624317-62624319

GGC

TGA

intronic

De novo

-

Trost2022 G

PATJ

1-0079-008

chr1:
62535179-62535179

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

Kenny2014:1

chr1:
62321741-62321742

TC

T

exonic

Unknown

frameshift deletion

NM_176877

c.2153delC

p.S718fs

-

Kenny2014 T

PATJ

1-0007-003

chr1:
62604323-62604323

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

5111007080051-C

chr1:
62232230-62232230

C

T

intronic

De novo

-

Fu2022 E

PATJ

AU2569301

chr1:
62579917-62579917

C

T

exonic

De novo

stopgain

NM_176877

c.C4654T

p.R1552X

44.0

5.012E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

PATJ

11402.p1

chr1:
62374072-62374072

C

T

exonic

Mosaic

nonsynonymous SNV

NM_176877

c.C3410T

p.S1137L

19.79

-

Dou2017 E

PATJ

5-0055-003

chr1:
62228363-62228363

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

AU003403

chr1:
62311337-62311337

A

G

intronic

De novo

-

Yuen2017 G

PATJ

1-0551-004

chr1:
62561747-62561747

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

1-0261-004

chr1:
62596547-62596547

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

1-0169-003

chr1:
62499320-62499320

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PATJ

iHART1751

AGAGT

A

exonic

Paternal

frameshift deletion

NM_176877

c.5377_5378del

p.E1793fs

-

Ruzzo2019 G

PATJ

AU4327303

chr1:
62656499-62656503

CCTCT

CCT

intergenic

De novo

-

Yuen2017 G

PATJ

iHART1912

chr1:
62366953-62366953

G

A

splicing

Paternal

splicing

23.0

8.667E-6

Ruzzo2019 G

PATJ

iHART1754

AGAGT

A

exonic

Paternal

frameshift deletion

NM_176877

c.5377_5378del

p.E1793fs

-