Variant Results

or

Results for "TRIP12"

Variant Events: 83

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

TRIP12

M19571

chr2:
230650514-230650514

C

T

exonic

Paternal, Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G4018A
c.G4927A
c.G4828A
c.G4972A

p.G1340S
p.G1643S
p.G1610S
p.G1658S

29.8

-

Stessman2017 T
Wang2016 T

TRIP12

212-21058-1

chr2:
230679861-230679861

C

T

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G650A
c.G1559A
c.G1541A
c.G1685A

p.R217Q
p.R520Q
p.R514Q
p.R562Q

31.0

-

Stessman2017 T

TRIP12

1-0336-004

chr2:
230675242-230675242

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

AU3918302

chr2:
230651410-230651410

G

A

intronic

De novo

-

Yuen2017 G

TRIP12

SP0034786

chr2:
230683157-230683157

C

T

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G487A
c.G1396A
c.G1378A
c.G1522A

p.E163K
p.E466K
p.E460K
p.E508K

37.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIP12

13367.p1

chr2:
230642220-230642220

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

TRIP12

211-5613-4

chr2:
230666966-230666967

AC

A

splicing

De novo

splicing

-

O’Roak2014 T

TRIP12

13290.p1

chr2:
230636299-230636299

G

A

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C4709T
c.C5618T
c.C5519T
c.C5663T

p.S1570L
p.S1873L
p.S1840L
p.S1888L

34.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Turner2017 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TRIP12

12035.p1

chr2:
230650558-230650558

C

T

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G3974A
c.G4883A
c.G4784A
c.G4928A

p.R1325Q
p.R1628Q
p.R1595Q
p.R1643Q

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TRIP12

Uddin2014:56

chr2:
230701696-230701696

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C103T
c.C1012T
c.C1012T
c.C1138T

p.R35X
p.R338X
p.R338X
p.R380X

38.0

-

Uddin2014 E

TRIP12

5-0147-003

chr2:
230686057-230686057

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

AU002403

chr2:
230632431-230632431

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C5008T
c.C5917T
c.C5818T
c.C5962T

p.R1670X
p.R1973X
p.R1940X
p.R1988X

46.0

-

Stessman2017 T
Stessman2017 T

TRIP12

M08644

chr2:
230663642-230663642

C

T

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G2396A
c.G3305A
c.G3206A
c.G3350A

p.G799E
p.G1102E
p.G1069E
p.G1117E

31.0

-

Guo2018 T
Wang2016 T

TRIP12

2-1366-003

chr2:
230707959-230707965

TTAGGTA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

SP0337907

chr2:
230652283-230652283

G

C

exonic

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C3898G
c.C4807G
c.C4708G
c.C4852G

p.P1300A
p.P1603A
p.P1570A
p.P1618A

23.8

-

Zhou2022 GE

TRIP12

SP0245708

chr2:
230643616-230643616

C

T

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G4150A
c.G5059A
c.G4960A
c.G5104A

p.E1384K
p.E1687K
p.E1654K
p.E1702K

32.0

-

Trost2022 G
Zhou2022 GE

TRIP12

JASD_Fam0170

chr2:
230667043-230667043

G

A

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C2096T
c.C3005T
c.C2906T
c.C3050T

p.T699I
p.T1002I
p.T969I
p.T1017I

4.813

-

Takata2018 E

TRIP12

JASD_Fam0064

chr2:
230663998-230663998

C

G

splicing

De novo

splicing

24.5

-

Takata2018 E

TRIP12

M17677

chr2:
230723547-230723547

C

G

exonic

Maternal

nonsynonymous SNV

NM_001284215
NM_004238
NM_001284214

c.G842C
c.G842C
c.G968C

p.G281A
p.G281A
p.G323A

21.7

-

Wang2016 T

TRIP12

2-1189-003

chr2:
230728443-230728443

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TRIP12

JASD_Fam0109

chr2:
230668934-230668935

GA

G

exonic

De novo

frameshift deletion

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.1624delT
c.2533delT
c.2434delT
c.2578delT

p.S542fs
p.S845fs
p.S812fs
p.S860fs

-

Takata2018 E

TRIP12

M18334

chr2:
230667106-230667106

G

A

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C2033T
c.C2942T
c.C2843T
c.C2987T

p.T678M
p.T981M
p.T948M
p.T996M

19.94

-

Wang2016 T

TRIP12

SP0109644

chr2:
230666995-230666995

T

A

exonic

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.A2144T
c.A3053T
c.A2954T
c.A3098T

p.D715V
p.D1018V
p.D985V
p.D1033V

18.85

-

Zhou2022 GE

TRIP12

M27854

chr2:
230724096-230724096

G

A

exonic

Paternal

nonsynonymous SNV

NM_001284215
NM_004238
NM_001284214

c.C293T
c.C293T
c.C419T

p.T98I
p.T98I
p.T140I

13.97

3.295E-5

Wang2016 T

TRIP12

SP0004071

chr2:
230661329-230661329

A

G

exonic

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.T2759C
c.T3668C
c.T3569C
c.T3713C

p.L920P
p.L1223P
p.L1190P
p.L1238P

23.6

-

Zhou2022 GE

TRIP12

M16165

chr2:
230725206-230725206

G

C

exonic

Maternal

nonsynonymous SNV

NM_001284214

c.C140G

p.P47R

20.8

-

Wang2016 T

TRIP12

M17551

chr2:
230661473-230661473

A

G

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.T2615C
c.T3524C
c.T3425C
c.T3569C

p.V872A
p.V1175A
p.V1142A
p.V1190A

8.823

3.411E-5

Wang2016 T

TRIP12

SP0000903

chr2:
230678980-230678983

GACA

G

exonic

De novo

nonframeshift deletion

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.755_757del
c.1664_1666del
c.1646_1648del
c.1790_1792del

p.252_253del
p.555_556del
p.549_550del
p.597_598del

-

Trost2022 G
Zhou2022 GE

TRIP12

1-0595-005

chr2:
230753618-230753618

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

SP0096824

chr2:
230724173-230724173

C

T

exonic

synonymous SNV

NM_001284215
NM_004238
NM_001284214

c.G216A
c.G216A
c.G342A

p.V72V
p.V72V
p.V114V

-

Zhou2022 GE

TRIP12

iHART1228

chr2:
230683217-230683217

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C427T
c.C1336T
c.C1318T
c.C1462T

p.Q143X
p.Q446X
p.Q440X
p.Q488X

39.0

-

Ruzzo2019 G

TRIP12

1-0763-003

chr2:
230784003-230784003

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

5-0019-003

chr2:
230643219-230643219

A

G

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.T4259C
c.T5168C
c.T5069C
c.T5213C

p.I1420T
p.I1723T
p.I1690T
p.I1738T

23.0

-

Trost2022 G
Zhou2022 GE

TRIP12

7-0235-003

chr2:
230642111-230642111

C

T

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G4414A
c.G5323A
c.G5224A
c.G5368A

p.D1472N
p.D1775N
p.D1742N
p.D1790N

34.0

-

Trost2022 G
Zhou2022 GE

TRIP12

13290_p1

chr2:
230636299-230636299

G

A

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C4709T
c.C5618T
c.C5519T
c.C5663T

p.S1570L
p.S1873L
p.S1840L
p.S1888L

34.0

-

Fu2022 E

TRIP12

MSSNG00221-003

chr2:
230669840-230669840

C

G

intronic

De novo

-

Trost2022 G

TRIP12

SSC06111

chr2:
230701696-230701696

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C103T
c.C1012T
c.C1012T
c.C1138T

p.R35X
p.R338X
p.R338X
p.R380X

38.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

TRIP12

10C105646

chr2:
230666966-230666967

AC

A

splicing

De novo

splicing

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRIP12

12035_p1

chr2:
230650558-230650558

C

T

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G3974A
c.G4883A
c.G4784A
c.G4928A

p.R1325Q
p.R1628Q
p.R1595Q
p.R1643Q

36.0

-

Fu2022 E

TRIP12

1-0187-004

chr2:
230673202-230673202

A

G

intronic

De novo

-

Trost2022 G

TRIP12

3C476

chr2:
230678709-230678709

G

C

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C828G
c.C1737G
c.C1719G
c.C1863G

p.F276L
p.F579L
p.F573L
p.F621L

20.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRIP12

AU4070301

chr2:
230705488-230705488

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

SSC07261

chr2:
230636299-230636299

G

A

exonic

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C4709T
c.C5618T
c.C5519T
c.C5663T

p.S1570L
p.S1873L
p.S1840L
p.S1888L

34.0

-

Antaki2022 GE

TRIP12

2-1246-003

chr2:
230648586-230648586

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

M18354

chr2:
230724204-230724204

T

G

exonic

Paternal

nonsynonymous SNV

NM_001284215
NM_004238
NM_001284214

c.A185C
c.A185C
c.A311C

p.Q62P
p.Q62P
p.Q104P

19.6

-

Wang2016 T

TRIP12

NP170

chr2:
230667043-230667043

G

A

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C2096T
c.C3005T
c.C2906T
c.C3050T

p.T699I
p.T1002I
p.T969I
p.T1017I

4.813

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRIP12

SSC03905

chr2:
230650558-230650558

C

T

exonic

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G3974A
c.G4883A
c.G4784A
c.G4928A

p.R1325Q
p.R1628Q
p.R1595Q
p.R1643Q

36.0

-

Antaki2022 GE

TRIP12

7-0032-003

chr2:
230781374-230781374

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

ACGC_YN0002.p1

chr2:
230672479-230672479

C

T

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G1406A
c.G2315A
c.G2297A
c.G2441A

p.R469H
p.R772H
p.R766H
p.R814H

34.0

1.649E-5

Wang2020 T

TRIP12

M08611

chr2:
230724181-230724181

G

A

exonic

Unknown, De novo

stopgain

NM_001284215
NM_004238
NM_001284214

c.C208T
c.C208T
c.C334T

p.R70X
p.R70X
p.R112X

34.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

TRIP12

ACGC_M19571

chr2:
230650514-230650514

C

T

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G4018A
c.G4927A
c.G4828A
c.G4972A

p.G1340S
p.G1643S
p.G1610S
p.G1658S

29.8

-

Wang2020 T

TRIP12

12867.p1

chr2:
230701696-230701696

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C103T
c.C1012T
c.C1012T
c.C1138T

p.R35X
p.R338X
p.R338X
p.R380X

38.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

TRIP12

SF0034786.p1

chr2:
230683157-230683157

C

T

exonic

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G487A
c.G1396A
c.G1378A
c.G1522A

p.E163K
p.E466K
p.E460K
p.E508K

37.0

-

Wang2020 T

TRIP12

1-0595-004

chr2:
230753618-230753618

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

AU035204

chr2:
230701669-230701669

C

T

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G130A
c.G1039A
c.G1039A
c.G1165A

p.A44T
p.A347T
p.A347T
p.A389T

15.35

1.0E-4

Chahrour2012 E

TRIP12

M23076

chr2:
230632309-230632309

T

C

exonic

Maternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.A5130G
c.A6039G
c.A5940G
c.A6084G

p.I1710M
p.I2013M
p.I1980M
p.I2028M

10.78

1.0E-4

Wang2016 T

TRIP12

Miyake2023:8412

chr2:
230668935-230668936

AA

A

exonic

De novo

frameshift deletion

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.1623delT
c.2532delT
c.2433delT
c.2577delT

p.Y541fs
p.Y844fs
p.Y811fs
p.Y859fs

-

Miyake2023 E

TRIP12

M19747

chr2:
230660028-230660028

T

C

exonic

Maternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.A2800G
c.A3709G
c.A3610G
c.A3754G

p.I934V
p.I1237V
p.I1204V
p.I1252V

1.168

8.258E-6

Wang2016 T

TRIP12

Miyake2023:8251

chr2:
230663998-230663998

C

G

splicing

De novo

splicing

24.5

-

Miyake2023 E

TRIP12

Miyake2023:9484

chr2:
230667043-230667043

G

A

exonic

De novo

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C2096T
c.C3005T
c.C2906T
c.C3050T

p.T699I
p.T1002I
p.T969I
p.T1017I

4.813

-

Miyake2023 E

TRIP12

AU035204

chr2:
230725194-230725194

T

C

exonic

Unknown

nonsynonymous SNV

NM_001284214

c.A152G

p.K51R

16.64

3.0E-4

Chahrour2012 E

TRIP12

AU3997302

chr2:
230659346-230659346

G

A

intronic

De novo

-

Yuen2017 G

TRIP12

mAGRE1228

chr2:
230683217-230683217

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C427T
c.C1336T
c.C1318T
c.C1462T

p.Q143X
p.Q446X
p.Q440X
p.Q488X

39.0

-

Cirnigliaro2023 G

TRIP12

Hu2022:2

chr2:
230744756-230744756

G

A

exonic

De novo

stopgain

NM_001284215
NM_001284214
NM_001284216
NM_004238

c.C40T
c.C40T
c.C40T
c.C40T

p.R14X
p.R14X
p.R14X
p.R14X

37.0

-

Hu2022 T

TRIP12

ACGC_M30805

chr2:
230673073-230673073

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C1199T
c.C2108T
c.C2090T
c.C2234T

p.T400M
p.T703M
p.T697M
p.T745M

26.2

6.687E-5

Wang2020 T

TRIP12

ACGC_HN0170.p1

chr2:
230673073-230673073

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C1199T
c.C2108T
c.C2090T
c.C2234T

p.T400M
p.T703M
p.T697M
p.T745M

26.2

6.687E-5

Wang2020 T

TRIP12

Leuven2_60433376

chr2:
230744732-230744732

C

T

exonic

Unknown

nonsynonymous SNV

NM_001284215
NM_001284214
NM_001284216
NM_004238

c.G64A
c.G64A
c.G64A
c.G64A

p.G22R
p.G22R
p.G22R
p.G22R

23.2

1.0E-4

Wang2020 T

TRIP12

Greenwood_15677

chr2:
230668763-230668763

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C1796T
c.C2705T
c.C2606T
c.C2750T

p.A599V
p.A902V
p.A869V
p.A917V

34.0

-

Wang2020 T

TRIP12

Leuven2_62305685

chr2:
230675881-230675881

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C991T
c.C1900T
c.C1882T
c.C2026T

p.R331C
p.R634C
p.R628C
p.R676C

21.9

-

Wang2020 T

TRIP12

1-0906-003

chr2:
230700417-230700417

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIP12

YN0002.p1

chr2:
230672479-230672479

C

T

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G1406A
c.G2315A
c.G2297A
c.G2441A

p.R469H
p.R772H
p.R766H
p.R814H

34.0

1.649E-5

Guo2018 T

TRIP12

ACGC_M26846

chr2:
230693951-230693951

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C373T
c.C1282T
c.C1264T
c.C1408T

p.R125W
p.R428W
p.R422W
p.R470W

25.6

-

Wang2020 T

TRIP12

M26929

chr2:
230679005-230679005

C

T

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G733A
c.G1642A
c.G1624A
c.G1768A

p.A245T
p.A548T
p.A542T
p.A590T

23.9

8.239E-6

Wang2016 T

TRIP12

HEN0282.p1

chr2:
230662471-230662471

C

T

exonic

Paternal

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G2524A
c.G3433A
c.G3334A
c.G3478A

p.G842R
p.G1145R
p.G1112R
p.G1160R

32.0

-

Guo2018 T

TRIP12

TASC_212-21058-1

chr2:
230679861-230679861

C

T

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G650A
c.G1559A
c.G1541A
c.G1685A

p.R217Q
p.R520Q
p.R514Q
p.R562Q

31.0

-

Wang2020 T

TRIP12

ACGC_M08611

chr2:
230724181-230724181

G

A

exonic

De novo

stopgain

NM_001284215
NM_004238
NM_001284214

c.C208T
c.C208T
c.C334T

p.R70X
p.R70X
p.R112X

34.0

-

Wang2020 T

TRIP12

AGRE_AU002403

chr2:
230632431-230632431

G

A

exonic

De novo

stopgain

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C5008T
c.C5917T
c.C5818T
c.C5962T

p.R1670X
p.R1973X
p.R1940X
p.R1988X

46.0

-

Wang2020 T

TRIP12

Naples_6173

chr2:
230659958-230659958

C

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.G2870T
c.G3779T
c.G3680T
c.G3824T

p.S957I
p.S1260I
p.S1227I
p.S1275I

25.4

-

Wang2020 T

TRIP12

SanDiego_01087-Y6Y8D

chr2:
230650505-230650505

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C4027T
c.C4936T
c.C4837T
c.C4981T

p.R1343W
p.R1646W
p.R1613W
p.R1661W

21.4

-

Wang2020 T

TRIP12

Greenwood_Cms23875

chr2:
230679041-230679044

GCTG

GATA

splicing

Unknown

splicing

-

Wang2020 T

TRIP12

Leuven_352416

chr2:
230663741-230663741

G

A

exonic

Unknown

nonsynonymous SNV

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.C2297T
c.C3206T
c.C3107T
c.C3251T

p.S766L
p.S1069L
p.S1036L
p.S1084L

36.0

-

Wang2020 T

TRIP12

Krgovic2022:011139

chr2:
230650529-230650529

C

CC

exonic

De novo

frameshift insertion

NM_001284216
NM_001284215
NM_004238
NM_001284214

c.4003dupG
c.4912dupG
c.4813dupG
c.4957dupG

p.V1335fs
p.V1638fs
p.V1605fs
p.V1653fs

-

Krgovic2022 E

TRIP12

M23639

chr2:
230723679-230723679

G

A

exonic

Maternal

nonsynonymous SNV

NM_001284215
NM_004238
NM_001284214

c.C710T
c.C710T
c.C836T

p.A237V
p.A237V
p.A279V

14.9

8.238E-5

Wang2016 T

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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