Variant Results

or

Results for "CDH13"

Variant Events: 173

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

CDH13

1-0246-005

chr16:
83679384-83679384

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU4067301

chr16:
82865312-82865312

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

3-0432-000

chr16:
83119946-83119946

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CDH13

133344

chr16:
83711952-83711952

C

T

exonic

nonsynonymous SNV

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.C1307T
c.C662T
c.C1424T
c.C1565T

p.P436L
p.P221L
p.P475L
p.P522L

24.2

-

Woodbury-Smith2022 E

CDH13

SP0016664

chr16:
83813548-83813548

C

G

intronic

De novo

-

9.928E-6

Fu2022 E

CDH13

5-0123-003

chr16:
82880942-82880942

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

5-0123-003

chr16:
83571579-83571579

G

A

intronic

De novo

-

Yuen2017 G

CDH13

1-0459-004

chr16:
83519431-83519431

C

T

intronic

De novo

-

Yuen2017 G

CDH13

2-0043-003

chr16:
82979051-82979051

C

T

intronic

De novo

-

Yuen2016 G

CDH13

1-0606-003

chr16:
82660806-82660806

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1279-003

chr16:
82967006-82967006

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CDH13

2-1352-003

chr16:
83302068-83302068

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH13

2-1605-004

chr16:
83703807-83703807

A

AGAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

7-0080-003

chr16:
82710438-82710438

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0253-004

chr16:
82873449-82873449

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0991-003

chr16:
83414637-83414637

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

11642_p1

chr16:
83704459-83704459

A

G

exonic

De novo

nonsynonymous SNV

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.A1049G
c.A404G
c.A1166G
c.A1307G

p.D350G
p.D135G
p.D389G
p.D436G

25.3

-

Fu2022 E

CDH13

1-0991-003

chr16:
83402956-83402956

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0991-003

chr16:
83401218-83401218

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

ASC_CA_69_A2

chr16:
82738887-82738887

G

A

intronic

De novo

-

Fu2022 E

CDH13

MSSNG00331-003

chr16:
83781857-83781857

T

G

splicing

De novo

splicing

22.5

-

Trost2022 G
Zhou2022 GE

CDH13

1-0991-003

chr16:
83393486-83393486

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

11492_p1

chr16:
83378475-83378475

G

A

exonic

De novo

synonymous SNV

NM_001220489
NM_001257
NM_001220488

c.G528A
c.G645A
c.G786A

p.V176V
p.V215V
p.V262V

-

2.0E-4

Fu2022 E

CDH13

14642.p1

chr16:
82779713-82779713

A

C

intronic

De novo

-

Turner2016 G

CDH13

1-0191-003

chr16:
83552718-83552718

G

GCT

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0383-003

chr16:
83711462-83711462

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

PN400195

chr16:
83704480-83704480

G

A

exonic

Unknown

stopgain

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.G1070A
c.G425A
c.G1187A
c.G1328A

p.W357X
p.W142X
p.W396X
p.W443X

33.0

-

Leblond2019 E

CDH13

2-0240-004

chr16:
83398831-83398831

C

T

intronic

De novo

-

Yuen2017 G

CDH13

AU3765303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU3263301

chr16:
83770650-83770650

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU4079301

chr16:
83215151-83215151

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU4452302

chr16:
83402249-83402249

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1380-003

chr16:
83553397-83553397

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CDH13

7-0253-003

chr16:
82899956-82899966

GTCTGTTTTCT

GTCTGTTTTCTGTTTTCT

intronic

De novo

-

Yuen2017 G

CDH13

AU026604

chr16:
82716207-82716207

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0671-003

chr16:
82879776-82879776

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0413-003

chr16:
82680984-82680984

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0834-003

chr16:
82666102-82666102

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0495-003

chr16:
82700627-82700627

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1626-003

chr16:
82931097-82931097

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-0102-003

chr16:
83461744-83461744

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0495-003

chr16:
82703813-82703813

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0495-003

chr16:
82701675-82701675

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

11492.p1

chr16:
83378475-83378475

G

A

exonic

De novo

synonymous SNV

NM_001220489
NM_001257
NM_001220488

c.G528A
c.G645A
c.G786A

p.V176V
p.V215V
p.V262V

-

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CDH13

1-0433-004

chr16:
83131000-83131000

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-0102-003

chr16:
83481945-83481945

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

11642.p1

chr16:
83704459-83704459

A

G

exonic

De novo

nonsynonymous SNV

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.A1049G
c.A404G
c.A1166G
c.A1307G

p.D350G
p.D135G
p.D389G
p.D436G

25.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CDH13

2-0102-003

chr16:
83471732-83471732

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1261-004

chr16:
83125722-83125722

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1212-003

chr16:
83539041-83539041

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

7-0364-003

chr16:
82680495-82680495

G

A

intronic

De novo

-

Trost2022 G

CDH13

1-1039-003

chr16:
82687179-82687179

C

A

intronic

De novo

-

Trost2022 G

CDH13

5-0101-003

chr16:
82671224-82671224

A

T

intronic

De novo

-

Trost2022 G

CDH13

AU2139303

chr16:
82785126-82785126

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0955-003

chr16:
82675716-82675720

AAGTG

A

intronic

De novo

-

Trost2022 G

CDH13

4-0073-003

chr16:
82667908-82667908

G

A

intronic

De novo

-

Trost2022 G

CDH13

iHART2310

chr16:
83159081-83159081

A

AG

exonic

Paternal

frameshift insertion

NM_001220491
NM_001220492
NM_001257
NM_001220488

c.459dupG
c.459dupG
c.459dupG
c.600dupG

p.Q153fs
p.Q153fs
p.Q153fs
p.Q200fs

-

Ruzzo2019 G

CDH13

AU4067303

chr16:
82719946-82719946

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-1124-003

chr16:
82784343-82784343

G

C

intronic

De novo

-

Trost2022 G

CDH13

1-0534-004

chr16:
82791220-82791224

AGCTT

TTATG

intronic

De novo

-

Trost2022 G

CDH13

2-1368-003

chr16:
83658777-83658791

ATGTGTGTGTGTGTG

ATGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

CDH13

MSSNG00415-003

chr16:
82739187-82739187

G

A

intronic

De novo

-

Trost2022 G

CDH13

REACH000145

chr16:
82774839-82774839

T

C

intronic

De novo

-

Trost2022 G

CDH13

AU4426303

chr16:
83173363-83173363

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-1016-003A

chr16:
82694990-82694990

A

G

intronic

De novo

-

Trost2022 G

CDH13

mAGRE2310

chr16:
83159081-83159081

A

AG

exonic

Paternal

frameshift insertion

NM_001220491
NM_001220492
NM_001257
NM_001220488

c.459dupG
c.459dupG
c.459dupG
c.600dupG

p.Q153fs
p.Q153fs
p.Q153fs
p.Q200fs

-

Cirnigliaro2023 G

CDH13

1-1186-003

chr16:
82738020-82738020

C

T

intronic

De novo

-

Trost2022 G

CDH13

AU076705

chr16:
83192535-83192535

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0565-004

chr16:
83683509-83683509

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU3846302

chr16:
83157324-83157324

C

T

intronic

De novo

-

Yuen2017 G

CDH13

3-0430-000

chr16:
83033618-83033618

G

A

intronic

De novo

-

Trost2022 G

CDH13

AUTPGX_1020

chr16:
82943183-82943183

C

T

intronic

De novo

-

Trost2022 G

CDH13

2-1694-003

chr16:
82882949-82882949

C

G

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00415-003

chr16:
82893215-82893215

C

T

intronic

De novo

-

Trost2022 G

CDH13

2-1341-003

chr16:
82918481-82918481

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU3263302

chr16:
83481874-83481874

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1694-003

chr16:
83132950-83132950

T

C

intronic

De novo

-

Trost2022 G

CDH13

7-0178-003

chr16:
83132950-83132950

T

C

intronic

De novo

-

Trost2022 G

CDH13

1-1063-003

chr16:
83130697-83130697

C

T

intronic

De novo

-

Trost2022 G

CDH13

7-0178-003

chr16:
83132946-83132946

A

TTTTTTTTTTTTTTTTTTTTTTG

intronic

De novo

-

Trost2022 G

CDH13

10-1155-003

chr16:
83065044-83065044

A

G

intronic

De novo

-

Trost2022 G

CDH13

AU011604

chr16:
83091369-83091369

C

T

intronic

De novo

-

Trost2022 G

CDH13

3-0626-000A

chr16:
83053013-83053013

G

A

intronic

De novo

-

Trost2022 G

CDH13

7-0453-003

chr16:
83060441-83060441

T

G

intronic

De novo

-

Trost2022 G

CDH13

1-0148-005

chr16:
82774141-82774141

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-0198-004

chr16:
83133171-83133171

T

C

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00421-003

chr16:
83165188-83165188

G

A

intronic

De novo

-

Trost2022 G

CDH13

2-0198-004

chr16:
83133157-83133157

A

G

intronic

De novo

-

Trost2022 G

CDH13

2-0198-004

chr16:
83133163-83133165

ATG

A

intronic

De novo

-

Trost2022 G

CDH13

2-0006-003

chr16:
83194220-83194220

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

7-0178-003

chr16:
83132968-83132968

A

G

intronic

De novo

-

Trost2022 G

CDH13

2-0198-004

chr16:
83133151-83133152

AG

TC

intronic

De novo

-

Trost2022 G

CDH13

5-0087-003

chr16:
82696551-82696551

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

7-0178-003

chr16:
83132956-83132956

T

C

intronic

De novo

-

Trost2022 G

CDH13

7-0178-003

chr16:
83132962-83132963

CT

C

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00423-003

chr16:
83274983-83274985

TTG

T

intronic

De novo

-

Trost2022 G

CDH13

5-0128-003

chr16:
83789620-83789620

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

MSSNG00423-003

chr16:
83274989-83274989

T

C

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00359-003

chr16:
83267770-83267770

A

G

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00423-003

chr16:
83272542-83272542

G

C

intronic

De novo

-

Trost2022 G

CDH13

AU011604

chr16:
83074724-83074724

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU2355301

chr16:
83240201-83240201

C

T

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00087-003

chr16:
83243969-83243969

C

T

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00361-003

chr16:
83183357-83183357

G

A

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00049-003

chr16:
83199955-83199955

C

T

intronic

De novo

-

Trost2022 G

CDH13

2-1438-003

chr16:
83356898-83356898

A

T

intronic

De novo

-

Trost2022 G

CDH13

7-0059-003

chr16:
83357936-83357936

G

A

intronic

De novo

-

Trost2022 G

CDH13

7-0396-003

chr16:
83338878-83338878

T

C

intronic

De novo

-

Trost2022 G

CDH13

1-1063-004

chr16:
83340666-83340666

T

C

intronic

De novo

-

Trost2022 G

CDH13

2-0159-003

chr16:
83325109-83325109

C

T

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00062-003

chr16:
83325791-83325791

A

G

intronic

De novo

-

Trost2022 G

CDH13

1-0628-003

chr16:
83306857-83306857

G

C

intronic

De novo

-

Trost2022 G

CDH13

1-0469-005

chr16:
82901656-82901656

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

MSSNG00062-003

chr16:
83322314-83322314

C

G

intronic

De novo

-

Trost2022 G

CDH13

3-0475-000

chr16:
83433979-83433979

C

T

intronic

De novo

-

Trost2022 G

CDH13

AU2142301

chr16:
83450175-83450175

G

A

intronic

De novo

-

Trost2022 G

CDH13

MT_184.3

chr16:
83410323-83410323

T

C

intronic

De novo

-

Trost2022 G

CDH13

MT_184.3

chr16:
83410327-83410327

G

T

intronic

De novo

-

Trost2022 G

CDH13

2-0704-003

chr16:
83658986-83658986

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CDH13

3-0345-001

chr16:
83392768-83392768

A

C

intronic

De novo

-

Trost2022 G

CDH13

1031

chr16:
83394233-83394233

G

T

intronic

De novo

-

Trost2022 G

CDH13

3-0612-000

chr16:
83378697-83378697

C

T

intronic

De novo

-

Trost2022 G

CDH13

7-0405-003

chr16:
83391689-83391689

C

A

intronic

De novo

-

Trost2022 G

CDH13

3-0129-000

chr16:
83488932-83488932

C

A

intronic

De novo

-

Trost2022 G

CDH13

1-0126-003

chr16:
83762374-83762374

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0214-003

chr16:
83521041-83521041

G

A

intronic

De novo

-

Trost2022 G

CDH13

1-0286-004

chr16:
83478511-83478512

AA

CC

intronic

De novo

-

Trost2022 G

CDH13

2-1336-003

chr16:
83478511-83478512

AA

CC

intronic

De novo

-

Trost2022 G

CDH13

2-1451-003

chr16:
82871317-82871317

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU0540302

chr16:
83468360-83468360

C

T

intronic

De novo

-

Trost2022 G

CDH13

AU079204

chr16:
83751786-83751786

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0484-003

chr16:
83477757-83477759

CAA

GAG

intronic

De novo

-

Trost2022 G

CDH13

3-0706-000A

chr16:
83466112-83466112

G

T

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00020-004

chr16:
83467416-83467416

G

A

intronic

De novo

-

Trost2022 G

CDH13

7-0449-003

chr16:
83682914-83682914

T

G

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00438-003

chr16:
83697676-83697676

C

T

intronic

De novo

-

Trost2022 G

CDH13

5-5005-003

chr16:
83638322-83638327

AAACTC

A

intronic

De novo

-

Trost2022 G

CDH13

AU4315302

chr16:
83668913-83668913

C

T

intronic

De novo

-

Trost2022 G

CDH13

1-0731-004

chr16:
83536324-83536324

A

G

intronic

De novo

-

Trost2022 G

CDH13

1-1159-004

chr16:
83568350-83568350

C

T

intronic

De novo

-

Trost2022 G

CDH13

2-1290-003

chr16:
83441509-83441509

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

3-0775-000

chr16:
83523049-83523049

G

A

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00120-003

chr16:
83523514-83523514

T

C

intronic

De novo

-

Trost2022 G

CDH13

REACH000229

chr16:
83777398-83777398

G

T

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00105-004

chr16:
83784079-83784079

G

A

intronic

De novo

-

Trost2022 G

CDH13

AU2463301

chr16:
83750090-83750090

G

A

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00003-003

chr16:
83765656-83765656

A

G

intronic

De novo

-

Trost2022 G

CDH13

AU2320301

chr16:
83733468-83733468

A

G

intronic

De novo

-

Trost2022 G

CDH13

1-0289-004

chr16:
83119838-83119838

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

MSSNG00352-003

chr16:
83739175-83739175

C

T

intronic

De novo

-

Trost2022 G

CDH13

1-0572-003

chr16:
83656376-83656376

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

SP0232954

chr16:
83712011-83712011

G

A

exonic

De novo

nonsynonymous SNV

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.G1366A
c.G721A
c.G1483A
c.G1624A

p.V456M
p.V241M
p.V495M
p.V542M

1.788

2.0E-4

Trost2022 G

CDH13

2-1806-003

chr16:
83731541-83731541

C

G

intronic

De novo

-

Trost2022 G

CDH13

AU066403

chr16:
83320692-83320692

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

REACH000467

chr16:
83821276-83821276

G

A

intronic

De novo

-

Trost2022 G

CDH13

7-0227-003

chr16:
83822820-83822820

C

T

intronic

De novo

-

Trost2022 G

CDH13

5-0512-003

chr16:
83796913-83796913

T

C

intronic

De novo

-

Trost2022 G

CDH13

MSSNG00077-004

chr16:
83817901-83817901

G

A

intronic

De novo

-

Trost2022 G

CDH13

2-1764-004

chr16:
83790824-83790824

G

C

intronic

De novo

-

Trost2022 G

CDH13

7-0011-003

chr16:
83792338-83792338

G

A

intronic

De novo

-

Trost2022 G

CDH13

AU031204

chr16:
83025996-83025996

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

PN400128

chr16:
83704480-83704480

G

A

exonic

Unknown

stopgain

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.G1070A
c.G425A
c.G1187A
c.G1328A

p.W357X
p.W142X
p.W396X
p.W443X

33.0

-

Leblond2019 E

CDH13

2-0132-004

chr16:
82709275-82709275

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0638-003

chr16:
83351533-83351533

C

G

intronic

De novo

-

Yuen2017 G

CDH13

2-1460-003

chr16:
82873201-82873201

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1338-003

chr16:
82758449-82758449

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU3712301

chr16:
82953536-82953536

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0912-003

chr16:
82750267-82750267

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

7-0058-003

chr16:
83782087-83782087

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

AU2100302

chr16:
83137102-83137102

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

1-0558-003

chr16:
83333318-83333318

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

2-1451-004

chr16:
82871317-82871317

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH13

PN400301

chr16:
83704480-83704480

G

A

exonic

Unknown

stopgain

NM_001220489
NM_001220490
NM_001257
NM_001220488

c.G1070A
c.G425A
c.G1187A
c.G1328A

p.W357X
p.W142X
p.W396X
p.W443X

33.0

-

Leblond2019 E

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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