Variant Results

G

A

splicing

Paternal

splicing

20.3

-

Ruzzo2019 G

DYRK1A

M13341

chr21:
38878450-38878450

C

T

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_101395

c.C1595T
c.C1568T
c.C1595T

p.T532M
p.T523M
p.T532M

34.0

1.0E-4

Guo2018 T
Wang2016 T

DYRK1A

YN0002.p1

chr21:
38884422-38884422

G

A

exonic

Maternal

nonsynonymous SNV

NM_001396
NM_130436

c.G1880A
c.G1853A

p.R627Q
p.R618Q

16.14

3.296E-5

Guo2018 T

DYRK1A

M12327

chr21:
38877659-38877659

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.G1313A
c.G1286A
c.G1313A
c.G1313A

p.R438H
p.R429H
p.R438H
p.R438H

27.5

-

Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T

DYRK1A

HN0026.p1

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C691T
c.C664T
c.C691T
c.C691T

p.R231X
p.R222X
p.R231X
p.R231X

50.0

-

Guo2018 T

DYRK1A

Stessman2017:ASD_1448

chr21:
38865349-38865349

C

T

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C982T
c.C955T
c.C982T
c.C982T

p.R328W
p.R319W
p.R328W
p.R328W

34.0

-

Stessman2017 T

DYRK1A

Husson2020:47

chr21:
38862575-38862575

C

T

exonic

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C763T
c.C736T
c.C763T
c.C763T

p.R255X
p.R246X
p.R255X
p.R255X

50.0

-

Husson2020 E

DYRK1A

M21761

chr21:
38865398-38865398

T

C

exonic

Maternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.T1031C
c.T1004C
c.T1031C
c.T1031C

p.M344T
p.M335T
p.M344T
p.M344T

26.1

2.471E-5

Guo2018 T
Wang2016 T

DYRK1A

SSC06885

chr21:
38877891-38877906

AGGTCTGTGCTGCTGC

A

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.1546_1546del
c.1519_1519del
c.1546_1546del
c.1546_1546del

p.G516fs
p.G507fs
p.G516fs
p.G516fs

-

Fu2022 E
Trost2022 G

DYRK1A

6239

G

A

splicing

De novo

splicing

28.2

-

Fu2022 E
Trost2022 G

DYRK1A

TRE_99

chr21:
38884758-38884758

T

C

exonic

De novo

nonsynonymous SNV

NM_001396
NM_130436

c.T2216C
c.T2189C

p.M739T
p.M730T

11.33

8.237E-6

Fu2022 E

DYRK1A

HEN0102.p1

chr21:
38878525-38878526

AG

A

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_101395

c.1671delG
c.1644delG
c.1671delG

p.Q557fs
p.Q548fs
p.Q557fs

-

Guo2018 T

DYRK1A

AU3638302

chr21:
38973654-38973655

TC

TCC

intergenic

De novo

-

Yuen2017 G

DYRK1A

7-0255-003

chr21:
38934134-38934134

C

A

intergenic

De novo

-

Yuen2017 G

DYRK1A

ACGC_M20274

chr21:
38853069-38853069

G

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.G457T
c.G430T
c.G457T
c.G457T

p.E153X
p.E144X
p.E153X
p.E153X

49.0

-

Wang2020 T

DYRK1A

SP0061913

chr21:
38862465-38862470

TTTCTC

T

intronic

De novo

-

Fu2022 E
Zhou2022 GE

DYRK1A

SAGE_BK_606.02

chr21:
38850501-38850501

A

AT

exonic

Paternal

frameshift insertion

NM_001396
NM_130438
NM_101395

c.227dupT
c.227dupT
c.227dupT

p.M76fs
p.M76fs
p.M76fs

-

Wang2020 T

DYRK1A

SP0070890

chr21:
38877891-38877891

A

C

exonic

De novo

synonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.A1545C
c.A1518C
c.A1545C
c.A1545C

p.S515S
p.S506S
p.S515S
p.S515S

-

Fu2022 E

DYRK1A

SP0076309

G

A

splicing

De novo

splicing

28.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DYRK1A

ACGC_M12327

chr21:
38877659-38877659

G

A

exonic

De novo

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.G1313A
c.G1286A
c.G1313A
c.G1313A

p.R438H
p.R429H
p.R438H
p.R438H

27.5

-

Wang2020 T

DYRK1A

SP0047593

chr21:
38792647-38792647

T

A

UTR5

De novo

-

Fu2022 E

DYRK1A

ACGC_HEN0102.p1

chr21:
38878525-38878526

AG

A

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_101395

c.1671delG
c.1644delG
c.1671delG

p.Q557fs
p.Q548fs
p.Q557fs

-

Wang2020 T

DYRK1A

SP0037073

chr21:
38792647-38792647

T

A

UTR5

De novo

-

Fu2022 E

DYRK1A

13890.p1

G

A

splicing

De novo

splicing

28.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
vanBon2015 T

DYRK1A

13256.p1

chr21:
38877891-38877906

AGGTCTGTGCTGCTGC

A

exonic

Unknown, De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.1546_1546del
c.1519_1519del
c.1546_1546del
c.1546_1546del

p.G516fs
p.G507fs
p.G516fs
p.G516fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

DYRK1A

1-0640-003

chr21:
38931481-38931481

C

A

intergenic

De novo

-

Yuen2017 G

DYRK1A

HEN0229.p1

chr21:
38878564-38878564

C

T

exonic

Paternal

nonsynonymous SNV

NM_101395

c.C1709T

p.A570V

14.38

-

Guo2018 T

DYRK1A

1-0150-004

chr21:
38965489-38965491

TGA

T

intergenic

De novo

-

Yuen2017 G

DYRK1A

M23240

chr21:
38865398-38865398

T

C

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.T1031C
c.T1004C
c.T1031C
c.T1031C

p.M344T
p.M335T
p.M344T
p.M344T

26.1

2.471E-5

Wang2016 T

DYRK1A

1-0233-004

chr21:
38960115-38960115

C

A

intergenic

De novo

-

Yuen2017 G

DYRK1A

1-1090-003

chr21:
38816947-38816947

C

T

intronic

De novo

-

Trost2022 G

DYRK1A

AU2448301

chr21:
38812730-38812730

C

T

intronic

De novo

-

Trost2022 G

DYRK1A

2-1509-003

chr21:
38781371-38781371

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYRK1A

SSC04381

chr21:
38845116-38845118

CAT

C

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.142_143del
c.142_143del
c.142_143del
c.142_143del

p.I48fs
p.I48fs
p.I48fs
p.I48fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

DYRK1A

MT_170.3

chr21:
38770851-38770851

A

T

intronic

De novo

-

Trost2022 G

DYRK1A

MT_170.3

chr21:
38769982-38769982

C

G

intronic

De novo

-

Trost2022 G

DYRK1A

M30369

chr21:
38877632-38877632

T

C

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.T1286C
c.T1259C
c.T1286C
c.T1286C

p.V429A
p.V420A
p.V429A
p.V429A

27.8

1.649E-5

Guo2018 T

DYRK1A

HN0045.p1

chr21:
38878596-38878596

G

T

exonic

Paternal

nonsynonymous SNV

NM_101395

c.G1741T

p.V581L

11.67

-

Guo2018 T

DYRK1A

1-0862-003

chr21:
38812845-38812847

CTA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYRK1A

1-0683-004

chr21:
38993148-38993149

TC

AA

intergenic

De novo

-

Trost2022 G

DYRK1A

M26749

chr21:
38878594-38878594

A

T

exonic

Paternal

nonsynonymous SNV

NM_101395

c.A1739T

p.Q580L

11.44

-

Guo2018 T
Wang2016 T

DYRK1A

SSC08031

chr21:
38877833-38877834

GC

G

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.1488delC
c.1461delC
c.1488delC
c.1488delC

p.S496fs
p.S487fs
p.S496fs
p.S496fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

DYRK1A

MSSNG00333-003

chr21:
38879292-38879292

C

G

intronic

De novo

-

Trost2022 G

DYRK1A

SAGE_546.03

chr21:
38845116-38845118

CAT

C

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.142_143del
c.142_143del
c.142_143del
c.142_143del

p.I48fs
p.I48fs
p.I48fs
p.I48fs

-

Wang2020 T

DYRK1A

MSSNG00429-003

chr21:
38870611-38870611

T

C

intronic

De novo

-

Trost2022 G

DYRK1A

SAGE_544.03

G

A

splicing

De novo

splicing

28.2

-

Wang2020 T

DYRK1A

REACH000540

chr21:
38845637-38845637

C

T

intronic

De novo

-

Trost2022 G

DYRK1A

REACH000435

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C691T
c.C664T
c.C691T
c.C691T

p.R231X
p.R222X
p.R231X
p.R231X

50.0

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

DYRK1A

3-0781-000

chr21:
38839499-38839499

C

G

intronic

De novo

-

Trost2022 G

DYRK1A

SP0018047

chr21:
38852950-38852950

C

CA

exonic

De novo

frameshift insertion

NM_001396
NM_130436
NM_130438
NM_101395

c.339dupA
c.312dupA
c.339dupA
c.339dupA

p.A113fs
p.A104fs
p.A113fs
p.A113fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYRK1A

7-0240-004

chr21:
38836508-38836508

A

G

intronic

De novo

-

Trost2022 G

DYRK1A

SSC09554

G

A

splicing

28.2

-

Antaki2022 GE

DYRK1A

MSSNG00133-003

chr21:
38830378-38830378

G

A

intronic

De novo

-

Trost2022 G

DYRK1A

SP0093881

chr21:
38862575-38862575

C

T

exonic

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C763T
c.C736T
c.C763T
c.C763T

p.R255X
p.R246X
p.R255X
p.R255X

50.0

-

Antaki2022 GE
Zhou2022 GE

DYRK1A

SJD_15.3

chr21:
38822364-38822364

T

C

intronic

De novo

-

Trost2022 G

DYRK1A

B0326

chr21:
38868526-38868526

C

G

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C1205G
c.C1178G
c.C1205G
c.C1205G

p.T402S
p.T393S
p.T402S
p.T402S

9.182

7.452E-5

Xiong2019 ET

DYRK1A

M32128

chr21:
38878489-38878489

C

T

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_101395

c.C1634T
c.C1607T
c.C1634T

p.A545V
p.A536V
p.A545V

34.0

8.32E-6

Guo2018 T

DYRK1A

SAGE_553.03

chr21:
38877833-38877834

GC

G

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.1488delC
c.1461delC
c.1488delC
c.1488delC

p.S496fs
p.S487fs
p.S496fs
p.S496fs

-

Wang2020 T

DYRK1A

Hu2022:20

chr21:
38865397-38865404

ATGTGGTC

A

exonic

Unknown

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.1031_1037del
c.1004_1010del
c.1031_1037del
c.1031_1037del

p.M344fs
p.M335fs
p.M344fs
p.M344fs

-

Hu2022 T

DYRK1A

AU048204

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C691T
c.C664T
c.C691T
c.C691T

p.R231X
p.R222X
p.R231X
p.R231X

50.0

-

Stessman2017 T

DYRK1A

ACGC_HN0026.p1

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C691T
c.C664T
c.C691T
c.C691T

p.R231X
p.R222X
p.R231X
p.R231X

50.0

-

Wang2020 T

DYRK1A

M20274

chr21:
38853069-38853069

G

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.G457T
c.G430T
c.G457T
c.G457T

p.E153X
p.E144X
p.E153X
p.E153X

49.0

-

Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T

DYRK1A

AGRE_AU048204

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C691T
c.C664T
c.C691T
c.C691T

p.R231X
p.R222X
p.R231X
p.R231X

50.0

-

Wang2020 T

DYRK1A

13552.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395
NM_001396
NM_130436
NM_130438
NM_101395
NM_001396
NM_130436
NM_130438
NM_101395

c.1488delC
c.1461delC
c.1488delC
c.1488delC
c.1489delC
c.1462delC
c.1489delC
c.1489delC
c.1491delC
c.1464delC
c.1491delC
c.1491delC

p.S496fs
p.S487fs
p.S496fs
p.S496fs
p.P497fs
p.P488fs
p.P497fs
p.P497fs
p.P497fs
p.P488fs
p.P497fs
p.P497fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Willsey2013 E
Zhou2022 GE
vanBon2015 T

DYRK1A

12099.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395
NM_001396
NM_130436
NM_130438
NM_101395

c.142_143del
c.142_143del
c.142_143del
c.142_143del
c.143_144del
c.143_144del
c.143_144del
c.143_144del

p.I48fs
p.I48fs
p.I48fs
p.I48fs
p.I48fs
p.I48fs
p.I48fs
p.I48fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
vanBon2015 T

DYRK1A

M10138

chr21:
38853100-38853100

C

G

exonic

Maternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C488G
c.C461G
c.C488G
c.C488G

p.S163C
p.S154C
p.S163C
p.S163C

27.6

-

Guo2018 T
Wang2016 T

DYRK1A

2-0286-003

chr21:
38986964-38986964

G

GTCTGTGTATGCGTGTGTGTATGCA

intergenic

De novo

-

Yuen2017 G

DYRK1A

Hu2022:40

chr21:
38884272-38884272

T

A

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436

c.T1730A
c.T1703A

p.V577D
p.V568D

27.3

-

Hu2022 T

DYRK1A

M3543

chr21:
38845108-38845108

C

G

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C133G
c.C133G
c.C133G
c.C133G

p.Q45E
p.Q45E
p.Q45E
p.Q45E

22.9

-

Wang2016 T

DYRK1A

Hu2022:44

chr21:
38850489-38850489

C

G

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130438
NM_101395

c.C214G
c.C214G
c.C214G

p.P72A
p.P72A
p.P72A

14.36

-

Hu2022 T

DYRK1A

M31009

chr21:
38878489-38878489

C

T

exonic

Maternal

nonsynonymous SNV

NM_001396
NM_130436
NM_101395

c.C1634T
c.C1607T
c.C1634T

p.A545V
p.A536V
p.A545V

34.0

8.32E-6

Guo2018 T

DYRK1A

Gecz1_5615

chr21:
38884421-38884421

C

T

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436

c.C1879T
c.C1852T

p.R627W
p.R618W

16.3

4.119E-5

Wang2020 T

DYRK1A

Gecz1_5614

chr21:
38884421-38884421

C

T

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436

c.C1879T
c.C1852T

p.R627W
p.R618W

16.3

4.119E-5

Wang2020 T

DYRK1A

SAGE_BK_642.01

chr21:
38877755-38877755

C

T

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C1409T
c.C1382T
c.C1409T
c.C1409T

p.P470L
p.P461L
p.P470L
p.P470L

34.0

-

Wang2020 T

DYRK1A

HN0091.p1

chr21:
38850543-38850543

A

G

exonic

Maternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.A268G
c.A241G
c.A268G
c.A268G

p.T90A
p.T81A
p.T90A
p.T90A

16.03

2.472E-5

Guo2018 T

DYRK1A

Leuven_370627

chr21:
38865398-38865398

T

A

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.T1031A
c.T1004A
c.T1031A
c.T1031A

p.M344K
p.M335K
p.M344K
p.M344K

33.0

-

Wang2020 T

DYRK1A

Melbourne2_ASD_1448

chr21:
38865349-38865349

C

T

exonic

Unknown

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C982T
c.C955T
c.C982T
c.C982T

p.R328W
p.R319W
p.R328W
p.R328W

34.0

-

Wang2020 T

DYRK1A

M16139

chr21:
38868526-38868526

C

G

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C1205G
c.C1178G
c.C1205G
c.C1205G

p.T402S
p.T393S
p.T402S
p.T402S

9.182

7.452E-5

Wang2016 T

DYRK1A

M17694

chr21:
38868526-38868526

C

G

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C1205G
c.C1178G
c.C1205G
c.C1205G

p.T402S
p.T393S
p.T402S
p.T402S

9.182

7.452E-5

Wang2016 T

DYRK1A

1-0224-004

chr21:
38961490-38961490

G

A

intergenic

De novo

-

Yuen2017 G

DYRK1A

1-0882-003

chr21:
38933426-38933426

C

T

intergenic

De novo

-

Yuen2017 G

DYRK1A

M26773

chr21:
38878405-38878405

G

T

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_101395

c.G1550T
c.G1523T
c.G1550T

p.G517V
p.G508V
p.G517V

25.5

-

Guo2018 T
Wang2016 T

DYRK1A

AU2793303

G

A

splicing

Paternal

splicing

20.3

-

Cirnigliaro2023 G

DYRK1A

UMCN 2

chr21:
38877584-38877584

A

G

splicing

De novo

splicing

11.47

-

vanBon2015 T

DYRK1A

Murdoch CRI

G

A

splicing

Inherited

splicing

20.3

-

vanBon2015 T

DYRK1A

Krgovic2022:016930

chr21:
38877661-38877662

GC

G

exonic

De novo

frameshift deletion

NM_001396
NM_130436
NM_130438
NM_101395

c.1316delC
c.1289delC
c.1316delC
c.1316delC

p.A439fs
p.A430fs
p.A439fs
p.A439fs

-

Krgovic2022 E

DYRK1A

ASD038

chr21:
38858853-38858853

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C601T
c.C574T
c.C601T
c.C601T

p.Q201X
p.Q192X
p.Q201X
p.Q201X

48.0

-

Tran2020 E
Wu2019 E

DYRK1A

TAS_F0134Y

chr21:
38884702-38884702

C

A

exonic

De novo

stopgain

NM_001396
NM_130436

c.C2160A
c.C2133A

p.Y720X
p.Y711X

49.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYRK1A

GF2852

chr21:
38852979-38852979

C

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C367T
c.C340T
c.C367T
c.C367T

p.Q123X
p.Q114X
p.Q123X
p.Q123X

48.0

-

vanBon2015 T

DYRK1A

Lim2017:6239

G

A

splicing

De novo

splicing

28.2

-

Lim2017 E

DYRK1A

SF0093881.p1

chr21:
38862575-38862575

C

T

exonic

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C763T
c.C736T
c.C763T
c.C763T

p.R255X
p.R246X
p.R255X
p.R255X

50.0

-

Wang2020 T

DYRK1A

Li2017:20274

chr21:
38853069-38853069

G

T

exonic

De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.G457T
c.G430T
c.G457T
c.G457T

p.E153X
p.E144X
p.E153X
p.E153X

49.0

-

Li2017 T

DYRK1A

SF0018047.p1

chr21:
38852950-38852950

C

CA

exonic

frameshift insertion

NM_001396
NM_130436
NM_130438
NM_101395

c.339dupA
c.312dupA
c.339dupA
c.339dupA

p.A113fs
p.A104fs
p.A113fs
p.A113fs

-

Wang2020 T

DYRK1A

AU3610302

chr21:
38879377-38879377

T

G

intronic

De novo

-

Yuen2017 G

DYRK1A

SF0076309.p1

G

A

splicing

28.2

-

Wang2020 T

DYRK1A

M23840

chr21:
38878594-38878594

A

T

exonic

Paternal

nonsynonymous SNV

NM_101395

c.A1739T

p.Q580L

11.44

-

Guo2018 T

DYRK1A

M03543

chr21:
38845108-38845108

C

G

exonic

Paternal

nonsynonymous SNV

NM_001396
NM_130436
NM_130438
NM_101395

c.C133G
c.C133G
c.C133G
c.C133G

p.Q45E
p.Q45E
p.Q45E
p.Q45E

22.9

-

Guo2018 T

DYRK1A

1-0150-003

chr21:
38965489-38965491

TGA

T

intergenic

De novo

-

Yuen2017 G

DYRK1A

10C108344

chr21:
38877655-38877655

C

T

exonic

Unknown, De novo

stopgain

NM_001396
NM_130436
NM_130438
NM_101395

c.C1309T
c.C1282T
c.C1309T
c.C1309T

p.R437X
p.R428X
p.R437X
p.R437X

50.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

DYRK1A

Radboud_11-12536

G

A

splicing

Maternal

splicing

20.3

-

Wang2020 T

DYRK1A

Radboud_11-12535

G

A

splicing

Maternal

splicing

20.3

-

Wang2020 T

DYRK1A

3-0169-000

chr21:
38758888-38758888

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G

DYRK1A

Radboud_11-21295