Variant Results

or

Results for "MYT1L"

Variant Events: 164

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

MYT1L

2-0003-004

chr2:
2223562-2223562

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

AU3853302

chr2:
2790259-2790259

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

2-1452-003

chr2:
2008538-2008538

A

G

intronic

De novo

-

Yuen2017 G

MYT1L

SF0087569.p2

chr2:
1893188-1893188

G

A

exonic

nonsynonymous SNV

NM_001303052
NM_015025

c.C2345T
c.C2339T

p.P782L
p.P780L

11.31

2.495E-5

Wang2020 T

MYT1L

SF0117834.p1

chr2:
1893132-1893132

G

A

exonic

stopgain

NM_001303052
NM_015025

c.C2401T
c.C2395T

p.Q801X
p.Q799X

47.0

-

Wang2020 T

MYT1L

SF0068071.p1

chr2:
1947036-1947036

G

A

exonic

stopgain

NM_001303052
NM_015025

c.C223T
c.C223T

p.R75X
p.R75X

41.0

-

Wang2020 T

MYT1L

SF0108710.p1

chr2:
1895817-1895817

C

T

exonic

nonsynonymous SNV

NM_001303052
NM_015025

c.G2275A
c.G2269A

p.A759T
p.A757T

12.21

-

Wang2020 T

MYT1L

M8524

chr2:
1926150-1926150

G

A

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.C1391T
c.C1391T

p.S464L
p.S464L

2.626

-

Wang2016 T

MYT1L

2-0306-004

chr2:
1976908-1976922

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

MYT1L

AU2458303

chr2:
2788801-2788801

A

G

intergenic

De novo

-

Yuen2017 G

MYT1L

AU4197301

chr2:
2665649-2665649

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

1-0387-003

chr2:
2322485-2322485

C

T

intronic

De novo

-

Yuen2016 G

MYT1L

M12507

chr2:
1893037-1893037

G

C/G

exonic

Paternal

-

Guo2018 T

MYT1L

AGRE_AU002404

chr2:
1805544-1805544

T

A

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.A3200T
c.A3194T

p.Q1067L
p.Q1065L

24.3

1.657E-5

Wang2020 T

MYT1L

AGRE_04C33840

chr2:
1805544-1805544

T

A

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.A3200T
c.A3194T

p.Q1067L
p.Q1065L

24.3

1.657E-5

Wang2020 T

MYT1L

M03563

chr2:
1893047-1893047

C

C/T

exonic

Paternal

-

Guo2018 T

MYT1L

AU4173301

chr2:
2209429-2209429

C

G

intronic

De novo

-

Yuen2017 G

MYT1L

SanDiego_H5B6C

chr2:
1926586-1926586

C

T

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.G955A
c.G955A

p.D319N
p.D319N

26.9

-

Wang2020 T

MYT1L

Leuven_209185

chr2:
1914112-1914112

C

T

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.G1717A
c.G1711A

p.G573R
p.G571R

28.6

-

Wang2020 T

MYT1L

M19732

chr2:
1983537-1983537

T

C

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.A13G
c.A13G

p.T5A
p.T5A

11.64

3.331E-5

Wang2016 T

MYT1L

14219.p1

chr2:
2399177-2399187

TCCAAACTGTA

T

intergenic

De novo

-

Wilfert2021 G

MYT1L

2-1415-004

chr2:
2799357-2799357

C

A

intergenic

De novo

-

Yuen2017 G

MYT1L

2-0296-004

chr2:
1844985-1844985

G

A

intronic

De novo

-

Trost2022 G

MYT1L

M12510

chr2:
1983308-1983308

A

G

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.T74C
c.T74C

p.I25T
p.I25T

10.65

-

Guo2018 T
Wang2016 T

MYT1L

1-0065-005

chr2:
2799357-2799357

C

A

intergenic

De novo

-

Yuen2017 G

MYT1L

2-0296-004

chr2:
1844975-1844975

G

A

intronic

De novo

-

Trost2022 G

MYT1L

1-0408-003

chr2:
2237658-2237658

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYT1L

2-1774-003

chr2:
1857323-1857323

T

C

intronic

De novo

-

Trost2022 G

MYT1L

2-0139-004

chr2:
1856132-1856132

C

T

intronic

De novo

-

Trost2022 G

MYT1L

2-1811-003

chr2:
1810074-1810074

T

C

intronic

De novo

-

Trost2022 G

MYT1L

DEASD_0440_001

chr2:
1893073-1893073

G

A

exonic

De novo

synonymous SNV

NM_001303052
NM_015025

c.C2460T
c.C2454T

p.P820P
p.P818P

-

8.28E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYT1L

4-0062-003

chr2:
1794045-1794046

AG

TC

UTR3

De novo

-

Trost2022 G

MYT1L

DEASD_0057_001

chr2:
1921023-1921023

G

C

exonic

Unknown, De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.C1572G
c.C1566G

p.H524Q
p.H522Q

19.46

-

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

MYT1L

2-1429-003

chr2:
2799357-2799357

C

A

intergenic

De novo

-

Yuen2017 G

MYT1L

MT_166.3

chr2:
1838756-1838756

C

T

intronic

De novo

-

Trost2022 G

MYT1L

AU062A

chr2:
1926950-1926950

G

T

exonic

Unknown, De novo

stopgain

NM_001303052
NM_015025

c.C591A
c.C591A

p.Y197X
p.Y197X

39.0

-

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

MYT1L

1-0720-003

chr2:
1838756-1838756

C

T

intronic

De novo

-

Trost2022 G

MYT1L

7-0257-003

chr2:
1914848-1914848

T

C

intronic

De novo

-

Trost2022 G

MYT1L

2-1350-004

chr2:
2799346-2799346

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

4-0074-003

chr2:
1910674-1910674

A

G

intronic

De novo

-

Trost2022 G

MYT1L

4-0088-003

chr2:
1951028-1951028

C

T

intronic

De novo

-

Trost2022 G

MYT1L

2-1114-003

chr2:
1937922-1937922

A

C

intronic

De novo

-

Trost2022 G

MYT1L

TRE_1475

chr2:
1914085-1914085

G

A

exonic

De novo

synonymous SNV

NM_001303052
NM_015025

c.C1744T
c.C1738T

p.L582L
p.L580L

-

Fu2022 E

MYT1L

3-0142-000

chr2:
1879298-1879298

C

T

intronic

De novo

-

Trost2022 G

MYT1L

MT_179.4

chr2:
1865685-1865685

T

C

intronic

De novo

-

Trost2022 G

MYT1L

2-1481-003

chr2:
1902500-1902500

C

T

intronic

De novo

-

Trost2022 G

MYT1L

08C77100

chr2:
1983502-1983502

C

T

exonic

De novo

synonymous SNV

NM_001303052
NM_015025

c.G48A
c.G48A

p.G16G
p.G16G

-

1.0E-4

Fu2022 E

MYT1L

2-1430-005A

chr2:
1900669-1900669

C

A

intronic

De novo

-

Trost2022 G

MYT1L

AU3782303

chr2:
2007916-2007916

T

G

intronic

De novo

-

Trost2022 G

MYT1L

3-0515-000

chr2:
2006389-2006389

C

T

intronic

De novo

-

Trost2022 G

MYT1L

10-1129-005

chr2:
2033380-2033380

G

A

intronic

De novo

-

Trost2022 G

MYT1L

AU2129303

chr2:
2300639-2300639

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

3-0221-000

chr2:
2024799-2024799

A

G

intronic

De novo

-

Trost2022 G

MYT1L

2-1342-003

chr2:
1960197-1960197

T

C

intronic

De novo

-

Trost2022 G

MYT1L

1-0628-004A

chr2:
1960197-1960197

T

C

intronic

De novo

-

Trost2022 G

MYT1L

1-1204-003

chr2:
1968373-1968373

G

C

intronic

De novo

-

Trost2022 G

MYT1L

AU074503

chr2:
1796181-1796185

TCAAT

T

exonic

Unknown

frameshift deletion

NM_001303052
NM_015025

c.3328_3331del
c.3322_3325del

p.I1110fs
p.I1108fs

-

Stessman2017 T

MYT1L

REACH000718

chr2:
1962652-1962652

C

T

intronic

De novo

-

Trost2022 G

MYT1L

7-0405-004

chr2:
2144500-2144500

C

T

intronic

De novo

-

Trost2022 G

MYT1L

4-0111-003

chr2:
2143713-2143713

T

C

intronic

De novo

-

Trost2022 G

MYT1L

MT_88.3

chr2:
2155278-2155278

C

T

intronic

De novo

-

Trost2022 G

MYT1L

3-0466-000A

chr2:
2148746-2148746

A

G

intronic

De novo

-

Trost2022 G

MYT1L

MSSNG00158-003

chr2:
2070271-2070271

T

C

intronic

De novo

-

Trost2022 G

MYT1L

Wang2023:702

chr2:
1946802-1946802

C

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.G457T
c.G457T

p.E153X
p.E153X

43.0

-

Wang2023 E

MYT1L

7-0461-004

chr2:
2055929-2055929

A

G

intronic

De novo

-

Trost2022 G

MYT1L

REACH000533

chr2:
2134374-2134374

T

TA

intronic

De novo

-

Trost2022 G

MYT1L

1-0172-005

chr2:
2118532-2118532

G

A

intronic

De novo

-

Trost2022 G

MYT1L

2-1760-003

chr2:
2240982-2240982

C

T

intronic

De novo

-

Trost2022 G

MYT1L

2-1362-003

chr2:
2392569-2392569

A

C

intergenic

De novo

-

Yuen2017 G

MYT1L

MSSNG00339-004

chr2:
2240239-2240239

T

C

intronic

De novo

-

Trost2022 G

MYT1L

7-0374-003

chr2:
2301890-2301890

A

T

intronic

De novo

-

Trost2022 G

MYT1L

1-0274-004

chr2:
1846306-1846306

C

T

intronic

De novo

-

Yuen2017 G

MYT1L

MSSNG00427-003

chr2:
2295750-2295750

G

A

intronic

De novo

-

Trost2022 G

MYT1L

MSSNG00337-003

chr2:
2170772-2170772

G

A

intronic

De novo

-

Trost2022 G

MYT1L

REACH000569

chr2:
2164709-2164709

C

T

intronic

De novo

-

Trost2022 G

MYT1L

1023

chr2:
2228385-2228385

A

T

intronic

De novo

-

Trost2022 G

MYT1L

AU0636303

chr2:
2073243-2073243

T

C

intronic

De novo

-

Yuen2017 G

MYT1L

MSSNG00002-003

chr2:
2222599-2222599

C

T

intronic

De novo

-

Trost2022 G

MYT1L

2-0214-003

chr2:
1841150-1841151

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

3-0052-000

chr2:
2322660-2322660

G

T

intronic

De novo

-

Trost2022 G

MYT1L

ACGC_M20699

chr2:
1891360-1891360

G

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.C2542T
c.C2536T

p.Q848X
p.Q846X

47.0

-

Wang2020 T

MYT1L

M08524

chr2:
1926150-1926150

G

A

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.C1391T
c.C1391T

p.S464L
p.S464L

2.626

-

Guo2018 T

MYT1L

2-1085-003

chr2:
1980568-1980568

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

2-1514-003

chr2:
2197851-2197865

CATATATATATATAT

CATATATATATAT

intronic

De novo

-

Yuen2017 G

MYT1L

AU036203

chr2:
2647127-2647127

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

1-0629-003

chr2:
2666072-2666072

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

2-1174-006

chr2:
2098587-2098587

T

TA

intronic

De novo

-

Yuen2017 G

MYT1L

2-1605-003

chr2:
2033880-2033880

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

7-0168-003

chr2:
2804933-2804938

AATCAT

AAT

intergenic

De novo

-

Yuen2017 G

MYT1L

HEN0306.p1

chr2:
1893044-1893044

C

T

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.G2489A
c.G2483A

p.R830K
p.R828K

14.35

-

Guo2018 T

MYT1L

AU4015302

chr2:
2014712-2014712

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

AU2075302

chr2:
2717543-2717543

G

T

intergenic

De novo

-

Yuen2017 G

MYT1L

M21738

chr2:
1893047-1893047

C

T

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.G2486A
c.G2480A

p.R829Q
p.R827Q

14.15

4.142E-5

Guo2018 T
Wang2016 T

MYT1L

12011.p1

chr2:
2250356-2250356

C

T

intronic

De novo

-

Turner2016 G

MYT1L

14482.p1

chr2:
2351884-2351884

G

C

intergenic

De novo

-

Turner2016 G

MYT1L

M12400

chr2:
1983321-1983321

C

T

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.G61A
c.G61A

p.V21M
p.V21M

16.97

2.488E-5

Guo2018 T
Wang2016 T

MYT1L

Hu2022:26

chr2:
1891259-1891259

C

T

splicing

De novo

splicing

18.58

-

Hu2022 T

MYT1L

M8704

chr2:
1983537-1983537

T

C

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.A13G
c.A13G

p.T5A
p.T5A

11.64

3.331E-5

Wang2016 T

MYT1L

2-1264-003

chr2:
2074383-2074383

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYT1L

Hu2022:25

chr2:
1915838-1915838

A

G

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.T1663C
c.T1657C

p.C555R
p.C553R

25.4

-

Hu2022 T

MYT1L

Hu2022:19

chr2:
1890312-1890312

T

TT

exonic

De novo

frameshift insertion

NM_001303052
NM_015025

c.2710dupA
c.2704dupA

p.K904fs
p.K902fs

-

Hu2022 T

MYT1L

Hu2022:21

chr2:
1915808-1915808

T

C

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.A1693G
c.A1687G

p.R565G
p.R563G

24.4

-

Hu2022 T

MYT1L

M31968

chr2:
1893018-1893018

T

C

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.A2515G
c.A2509G

p.I839V
p.I837V

1.222

-

Guo2018 T

MYT1L

M3533

chr2:
1805521-1805521

G

C

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.C3223G
c.C3217G

p.L1075V
p.L1073V

18.05

-

Wang2016 T

MYT1L

1-0481-003

chr2:
2789920-2789920

C

T

intergenic

De novo

-

Yuen2017 G

MYT1L

1-0323-004

chr2:
2693442-2693442

C

A

intergenic

De novo

-

Yuen2017 G

MYT1L

M32313

chr2:
1926132-1926132

G

A

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.C1409T
c.C1409T

p.P470L
p.P470L

2.386

2.0E-4

Guo2018 T

MYT1L

AU4033305

chr2:
2696676-2696676

T

A

intergenic

De novo

-

Yuen2017 G

MYT1L

GX0051.p1

chr2:
1926132-1926132

G

A

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.C1409T
c.C1409T

p.P470L
p.P470L

2.386

2.0E-4

Guo2018 T

MYT1L

2-0214-003

chr2:
1926776-1926780

ACTGT

A

exonic

De novo

frameshift deletion

NM_001303052
NM_015025

c.761_764del
c.761_764del

p.D254fs
p.D254fs

-

Wang2020 T

MYT1L

1-0508-003

chr2:
2626152-2626152

A

C

intergenic

De novo

-

Yuen2017 G

MYT1L

M30874

chr2:
1926651-1926651

A

G

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.T890C
c.T890C

p.M297T
p.M297T

0.033

-

Guo2018 T

MYT1L

1-0489-003

chr2:
2599839-2599839

T

C

intergenic

De novo

-

Yuen2017 G

MYT1L

M30904

chr2:
1926363-1926363

G

A

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.C1178T
c.C1178T

p.S393L
p.S393L

14.06

-

Guo2018 T

MYT1L

M31995

chr2:
1983321-1983321

C

T

exonic

Paternal

nonsynonymous SNV

NM_001303052
NM_015025

c.G61A
c.G61A

p.V21M
p.V21M

16.97

2.488E-5

Guo2018 T

MYT1L

3-0783-000

chr2:
1906953-1906953

G

T

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.C1931A
c.C1925A

p.T644N
p.T642N

28.5

-

Trost2022 G
Zhou2022 GE

MYT1L

SP0108710

chr2:
1895817-1895817

C

T

exonic

nonsynonymous SNV

NM_001303052
NM_015025

c.G2275A
c.G2269A

p.A759T
p.A757T

12.21

-

Zhou2022 GE

MYT1L

MSSNG00400-003

chr2:
1921047-1921047

G

T

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.C1548A
c.C1542A

p.H516Q
p.H514Q

18.67

-

Trost2022 G
Zhou2022 GE

MYT1L

2-1166-003

chr2:
2333589-2333589

G

A

intronic

De novo

-

Yuen2016 G

MYT1L

SP0034050

chr2:
1921003-1921003

G

A

exonic

nonsynonymous SNV

NM_001303052
NM_015025

c.C1592T
c.C1586T

p.P531L
p.P529L

35.0

-

Zhou2022 GE

MYT1L

2-1633-003

chr2:
1979951-1979951

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

AU4487302

chr2:
2617159-2617159

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

H5B6C

chr2:
1926586-1926586

C

T

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.G955A
c.G955A

p.D319N
p.D319N

26.9

-

Stessman2017 T

MYT1L

2-0318-004

chr2:
2601720-2601720

G

A

intergenic

De novo

-

Yuen2017 G

MYT1L

1-0570-003

chr2:
2399539-2399539

G

C

intergenic

De novo

-

Yuen2017 G

MYT1L

5-0061-003

chr2:
2427473-2427473

C

T

intergenic

De novo

-

Yuen2017 G

MYT1L

AU2293301

chr2:
2452502-2452502

C

A

intergenic

De novo

-

Yuen2017 G

MYT1L

AGRE_AU074504

chr2:
1796180-1796184

CTCAA

C

exonic

Unknown

frameshift deletion

NM_001303052
NM_015025

c.3329_3332del
c.3323_3326del

p.I1110fs
p.I1108fs

-

Wang2020 T

MYT1L

AGRE_AU074503

chr2:
1796180-1796184

CTCAA

C

exonic

Unknown

frameshift deletion

NM_001303052
NM_015025

c.3329_3332del
c.3323_3326del

p.I1110fs
p.I1108fs

-

Wang2020 T

MYT1L

ASC_142560

chr2:
1893214-1893214

C

T

exonic

De novo

synonymous SNV

NM_001303052
NM_015025

c.G2319A
c.G2313A

p.L773L
p.L771L

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYT1L

1-0051-005

chr2:
1976936-1976936

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

AU3371305

chr2:
2106473-2106473

G

A

intronic

De novo

-

Yuen2017 G

MYT1L

SAGE_513.101

chr2:
1921003-1921003

G

A

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.C1592T
c.C1586T

p.P531L
p.P529L

35.0

-

Wang2020 T

MYT1L

1-0294-003

chr2:
2571929-2571929

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MYT1L

13898.p1

chr2:
1921079-1921079

A

G

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.T1516C
c.T1510C

p.C506R
p.C504R

24.9

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

MYT1L

7-0253-005

chr2:
2710417-2710417

C

G

intergenic

De novo

-

Yuen2017 G

MYT1L

AU3680301

chr2:
2288244-2288244

C

T

UTR5

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

AU075803

chr2:
2349694-2349694

A

G

intergenic

De novo

-

Yuen2017 G

MYT1L

M20699

chr2:
1891360-1891360

G

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.C2542T
c.C2536T

p.Q848X
p.Q846X

47.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

MYT1L

GX0176.p1

chr2:
1843002-1843002

A

G

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.T2999C
c.T2993C

p.V1000A
p.V998A

13.04

-

Guo2018 T

MYT1L

GX0182.p1

chr2:
1843002-1843002

A

G

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.T2999C
c.T2993C

p.V1000A
p.V998A

13.04

-

Guo2018 T

MYT1L

AU061104

chr2:
2297549-2297549

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

GX0247.p1

chr2:
1926456-1926456

C

T

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.G1085A
c.G1085A

p.R362Q
p.R362Q

12.72

-

Guo2018 T

MYT1L

Mahjani2021:91

chr2:
1921086-1921086

C

G

exonic

nonsynonymous SNV

NM_001303052
NM_015025

c.G1509C
c.G1503C

p.E503D
p.E501D

19.63

-

Mahjani2021 E

MYT1L

GX0194.p1

chr2:
1796185-1796185

T

C

exonic

Maternal

nonsynonymous SNV

NM_001303052
NM_015025

c.A3328G
c.A3322G

p.I1110V
p.I1108V

28.8

-

Guo2018 T

MYT1L

04C33840

chr2:
1805544-1805544

T

A

exonic

Unknown

nonsynonymous SNV

NM_001303052
NM_015025

c.A3200T
c.A3194T

p.Q1067L
p.Q1065L

24.3

1.657E-5

Stessman2017 T

MYT1L

2-1174-005B

chr2:
2098587-2098587

T

TA

intronic

De novo

-

Yuen2017 G

MYT1L

1-0139-003

chr2:
1835309-1835309

C

T

intronic

De novo

-

Yuen2017 G

MYT1L

SP0087570

chr2:
1893188-1893188

G

A

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.C2345T
c.C2339T

p.P782L
p.P780L

11.31

2.495E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

MYT1L

G01-GEA-269-HI

chr2:
1891323-1891324

AC

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.2578delG
c.2572delG

p.V860X
p.V858X

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYT1L

SP0167400

chr2:
1927006-1927006

G

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.C535T
c.C535T

p.R179X
p.R179X

43.0

-

Trost2022 G
Zhou2022 GE

MYT1L

1-0593-003

chr2:
2006965-2006965

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

SP0161469

chr2:
1895870-1895870

G

A

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.C2222T
c.C2216T

p.T741M
p.T739M

32.0

-

Trost2022 G
Zhou2022 GE

MYT1L

1-0274-003

chr2:
1846306-1846306

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

2-1398-004

chr2:
2386276-2386276

A

G

intergenic

De novo

-

Yuen2017 G

MYT1L

A1

chr2:
2717671-2717671

A

T

intergenic

De novo

-

Wu2018 G

MYT1L

SSC09343

chr2:
1921079-1921079

A

G

exonic

De novo

nonsynonymous SNV

NM_001303052
NM_015025

c.T1516C
c.T1510C

p.C506R
p.C504R

24.9

-

Antaki2022 GE
Fu2022 E
Trost2022 G

MYT1L

AU3915301

chr2:
2576977-2576977

C

CAA

intergenic

De novo

-

Yuen2017 G

MYT1L

SP0117834

chr2:
1893132-1893132

G

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.C2401T
c.C2395T

p.Q801X
p.Q799X

47.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MYT1L

SP0068071

chr2:
1947036-1947036

G

A

exonic

De novo

stopgain

NM_001303052
NM_015025

c.C223T
c.C223T

p.R75X
p.R75X

41.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MYT1L

92

chr2:
1891259-1891259

C

T

splicing

De novo

splicing

18.58

-

O’Roak2014 T

MYT1L

2-0007-003

chr2:
1804908-1804908

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

2-1366-004

chr2:
1858167-1858167

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYT1L

AU3907302

chr2:
2207275-2207275

A

T

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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