Variant Results

or

Results for "DYSF"

Variant Events: 72

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

DYSF

3-0428-000

chr2:
71845645-71845645

T

G

intronic

De novo

-

Yuen2017 G

DYSF

14311.p1

chr2:
71839829-71839829

G

A

exonic

De novo

nonsynonymous SNV

NM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982

c.G4184A
c.G4184A
c.G4187A
c.G4187A
c.G4229A
c.G4226A
c.G4277A
c.G4277A
c.G4229A
c.G4280A
c.G4280A
c.G4226A
c.G4319A
c.G4322A

p.R1395H
p.R1395H
p.R1396H
p.R1396H
p.R1410H
p.R1409H
p.R1426H
p.R1426H
p.R1410H
p.R1427H
p.R1427H
p.R1409H
p.R1440H
p.R1441H

33.0

1.651E-5

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

DYSF

2-0215-003

chr2:
72119463-72119464

TG

T

intergenic

De novo

-

Yuen2017 G

DYSF

2-1389-003

chr2:
72204868-72204868

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DYSF

7-0191-003

chr2:
72120672-72120672

C

T

intergenic

De novo

-

Yuen2017 G

DYSF

2-1509-003

chr2:
72300311-72300314

GGTG

GG

intergenic

De novo

-

Yuen2017 G

DYSF

2-0144-003

chr2:
72299836-72299836

T

TATC

intergenic

De novo

-

Yuen2017 G

DYSF

2-1407-003

chr2:
72103478-72103478

C

T

intergenic

De novo

-

Yuen2017 G

DYSF

AU3808305

chr2:
71996871-71996871

T

C

intergenic

De novo

-

Yuen2017 G

DYSF

2-0182-003

chr2:
72250336-72250336

C

A

intergenic

De novo

-

Yuen2017 G

DYSF

iHART2458

chr2:
71871118-71871118

G

A

exonic

Maternal

stopgain

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.G4392A
c.G4395A
c.G4437A
c.G4455A
c.G4485A
c.G4458A
c.G4488A
c.G4434A
c.G4497A
c.G4527A
c.G4548A
c.G4530A
c.G4500A
c.G4551A

p.W1464X
p.W1465X
p.W1479X
p.W1485X
p.W1495X
p.W1486X
p.W1496X
p.W1478X
p.W1499X
p.W1509X
p.W1516X
p.W1510X
p.W1500X
p.W1517X

46.0

1.143E-5

Ruzzo2019 G

DYSF

2-0016-003

chr2:
71854444-71854444

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYSF

iHART2459

chr2:
71871118-71871118

G

A

exonic

Maternal

stopgain

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.G4392A
c.G4395A
c.G4437A
c.G4455A
c.G4485A
c.G4458A
c.G4488A
c.G4434A
c.G4497A
c.G4527A
c.G4548A
c.G4530A
c.G4500A
c.G4551A

p.W1464X
p.W1465X
p.W1479X
p.W1485X
p.W1495X
p.W1486X
p.W1496X
p.W1478X
p.W1499X
p.W1509X
p.W1516X
p.W1510X
p.W1500X
p.W1517X

46.0

1.143E-5

Ruzzo2019 G

DYSF

iHART2397

chr2:
71797727-71797727

A

G

splicing

Paternal

splicing

7.648

-

Ruzzo2019 G

DYSF

MSSNG00242-003

chr2:
71786160-71786160

G

T

intronic

De novo

-

Trost2022 G

DYSF

1-1105-005

chr2:
71797592-71797592

C

G

intronic

De novo

-

Trost2022 G

DYSF

2-0242-003

chr2:
71757167-71757167

G

GCT

intronic

De novo

-

Trost2022 G

DYSF

1-0320-004

chr2:
71940140-71940142

CAT

C

intergenic

De novo

-

Yuen2017 G

DYSF

2-1341-004

chr2:
71757220-71757224

CCTCA

TTTAAACT

intronic

De novo

-

Trost2022 G

DYSF

MSSNG00153-003

chr2:
71725784-71725784

G

C

intronic

De novo

-

Trost2022 G

DYSF

1-1131-003

chr2:
71748076-71748076

G

A

intronic

De novo

-

5.842E-5

Trost2022 G

DYSF

2-1243-003

chr2:
71695082-71695082

C

A

intronic

De novo

-

Trost2022 G

DYSF

14-600

chr2:
71697557-71697557

A

G

intronic

De novo

-

Trost2022 G

DYSF

SJD_52.3

chr2:
71844918-71844918

G

T

intronic

De novo

-

Trost2022 G

DYSF

2-1502-003

chr2:
71845622-71845622

G

A

intronic

De novo

-

Trost2022 G

DYSF

AU2310301

chr2:
71833206-71833206

G

A

intronic

De novo

-

Trost2022 G

DYSF

MR432

chr2:
71839871-71839871

G

A

exonic

De novo

nonsynonymous SNV

NM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982

c.G4226A
c.G4226A
c.G4229A
c.G4229A
c.G4271A
c.G4268A
c.G4319A
c.G4319A
c.G4271A
c.G4322A
c.G4322A
c.G4268A
c.G4361A
c.G4364A

p.R1409H
p.R1409H
p.R1410H
p.R1410H
p.R1424H
p.R1423H
p.R1440H
p.R1440H
p.R1424H
p.R1441H
p.R1441H
p.R1423H
p.R1454H
p.R1455H

13.74

8.261E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYSF

2-1763-003

chr2:
71844918-71844918

G

T

intronic

De novo

-

Trost2022 G

DYSF

MSSNG00027-004

chr2:
71826210-71826210

T

G

intronic

De novo

-

Trost2022 G

DYSF

MT_37.3

chr2:
71833172-71833172

C

T

intronic

De novo

-

Trost2022 G

DYSF

2-1480-003

chr2:
71798548-71798548

A

C

intronic

De novo

-

Trost2022 G

DYSF

MSSNG00432-003

chr2:
71808477-71808477

G

A

intronic

De novo

-

Trost2022 G

DYSF

SP0040514

chr2:
71908272-71908272

A

C

intronic

De novo

-

9.372E-6

Trost2022 G

DYSF

AU4372309

chr2:
72177301-72177301

T

A

intergenic

De novo

-

Yuen2017 G

DYSF

3-0129-000

chr2:
71912628-71912628

C

T

intronic

De novo

-

Trost2022 G

DYSF

1-0589-003

chr2:
71865268-71865268

T

A

intronic

De novo

-

Trost2022 G

DYSF

3-0459-000

chr2:
71893992-71893992

T

C

intronic

De novo

-

Trost2022 G

DYSF

1-0488-003

chr2:
71766338-71766338

G

A

exonic

De novo

synonymous SNV

NM_001130455
NM_001130976
NM_001130977
NM_001130978
NM_001130983
NM_001130984
NM_001130986
NM_003494
NM_001130979
NM_001130980
NM_001130981
NM_001130982
NM_001130985
NM_001130987

c.G1452A
c.G1449A
c.G1449A
c.G1449A
c.G1452A
c.G1452A
c.G1452A
c.G1449A
c.G1542A
c.G1542A
c.G1542A
c.G1545A
c.G1545A
c.G1545A

p.S484S
p.S483S
p.S483S
p.S483S
p.S484S
p.S484S
p.S484S
p.S483S
p.S514S
p.S514S
p.S514S
p.S515S
p.S515S
p.S515S

-

1.647E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

DYSF

14311_p1

chr2:
71839829-71839829

G

A

exonic

De novo

nonsynonymous SNV

NM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982

c.G4184A
c.G4184A
c.G4187A
c.G4187A
c.G4229A
c.G4226A
c.G4277A
c.G4277A
c.G4229A
c.G4280A
c.G4280A
c.G4226A
c.G4319A
c.G4322A

p.R1395H
p.R1395H
p.R1396H
p.R1396H
p.R1410H
p.R1409H
p.R1426H
p.R1426H
p.R1410H
p.R1427H
p.R1427H
p.R1409H
p.R1440H
p.R1441H

33.0

1.651E-5

Fu2022 E

DYSF

1-0452-003

chr2:
71845714-71845714

T

G

intronic

De novo

-

Trost2022 G

DYSF

1-0289-003

chr2:
71785386-71785387

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYSF

2-1723-003

chr2:
71857031-71857032

CT

GG

intronic

De novo

-

Trost2022 G

DYSF

mAGRE4523

chr2:
71753389-71753390

GA

G

exonic

Maternal

frameshift deletion

NM_001130455
NM_001130976
NM_001130977
NM_001130978
NM_001130983
NM_001130984
NM_001130986
NM_003494
NM_001130979
NM_001130980
NM_001130981
NM_001130982
NM_001130985
NM_001130987

c.1097delA
c.1094delA
c.1094delA
c.1094delA
c.1097delA
c.1097delA
c.1097delA
c.1094delA
c.1187delA
c.1187delA
c.1187delA
c.1190delA
c.1190delA
c.1190delA

p.E366fs
p.E365fs
p.E365fs
p.E365fs
p.E366fs
p.E366fs
p.E366fs
p.E365fs
p.E396fs
p.E396fs
p.E396fs
p.E397fs
p.E397fs
p.E397fs

-

Cirnigliaro2023 G

DYSF

mAGRE4786

chr2:
71743343-71743344

GA

G

exonic

Maternal

frameshift deletion

NM_001130455
NM_001130976
NM_001130977
NM_001130978
NM_001130983
NM_001130984
NM_001130986
NM_003494
NM_001130979
NM_001130980
NM_001130981
NM_001130982
NM_001130985
NM_001130987

c.830delA
c.827delA
c.827delA
c.827delA
c.830delA
c.830delA
c.830delA
c.827delA
c.920delA
c.920delA
c.920delA
c.923delA
c.923delA
c.923delA

p.E277fs
p.E276fs
p.E276fs
p.E276fs
p.E277fs
p.E277fs
p.E277fs
p.E276fs
p.E307fs
p.E307fs
p.E307fs
p.E308fs
p.E308fs
p.E308fs

-

Cirnigliaro2023 G

DYSF

2-1283-004

chr2:
72076923-72076925

TGA

T

intergenic

De novo

-

Yuen2017 G

DYSF

2-1529-003

chr2:
72081856-72081856

A

G

intergenic

De novo

-

Yuen2017 G

DYSF

mAGRE5837

chr2:
71908162-71908162

C

CA

exonic

Paternal

frameshift insertion

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.5937dupA
c.5940dupA
c.5982dupA
c.6000dupA
c.6030dupA
c.6003dupA
c.6033dupA
c.5979dupA
c.6042dupA
c.6072dupA
c.6093dupA
c.6075dupA
c.6045dupA
c.6096dupA

p.A1979fs
p.A1980fs
p.A1994fs
p.A2000fs
p.A2010fs
p.A2001fs
p.A2011fs
p.A1993fs
p.A2014fs
p.A2024fs
p.A2031fs
p.A2025fs
p.A2015fs
p.A2032fs

-

4.994E-5

Cirnigliaro2023 G

DYSF

AU1725302

chr2:
71875171-71875171

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYSF

mAGRE2459

chr2:
71871118-71871118

G

A

exonic

Maternal

stopgain

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.G4392A
c.G4395A
c.G4437A
c.G4455A
c.G4485A
c.G4458A
c.G4488A
c.G4434A
c.G4497A
c.G4527A
c.G4548A
c.G4530A
c.G4500A
c.G4551A

p.W1464X
p.W1465X
p.W1479X
p.W1485X
p.W1495X
p.W1486X
p.W1496X
p.W1478X
p.W1499X
p.W1509X
p.W1516X
p.W1510X
p.W1500X
p.W1517X

46.0

1.143E-5

Cirnigliaro2023 G

DYSF

mAGRE2458

chr2:
71871118-71871118

G

A

exonic

Maternal

stopgain

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.G4392A
c.G4395A
c.G4437A
c.G4455A
c.G4485A
c.G4458A
c.G4488A
c.G4434A
c.G4497A
c.G4527A
c.G4548A
c.G4530A
c.G4500A
c.G4551A

p.W1464X
p.W1465X
p.W1479X
p.W1485X
p.W1495X
p.W1486X
p.W1496X
p.W1478X
p.W1499X
p.W1509X
p.W1516X
p.W1510X
p.W1500X
p.W1517X

46.0

1.143E-5

Cirnigliaro2023 G

DYSF

mAGRE2397

chr2:
71797727-71797727

A

G

splicing

Paternal

splicing

7.648

-

Cirnigliaro2023 G

DYSF

SP0007745

chr2:
71891520-71891520

T

C

exonic

De novo

nonsynonymous SNV

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.T4967C
c.T4970C
c.T5012C
c.T5030C
c.T5060C
c.T5033C
c.T5063C
c.T5009C
c.T5072C
c.T5102C
c.T5123C
c.T5105C
c.T5075C
c.T5126C

p.L1656P
p.L1657P
p.L1671P
p.L1677P
p.L1687P
p.L1678P
p.L1688P
p.L1670P
p.L1691P
p.L1701P
p.L1708P
p.L1702P
p.L1692P
p.L1709P

19.71

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DYSF

13171.p1

chr2:
72114182-72114185

ACTT

A

intergenic

De novo

-

Werling2018 G

DYSF

SP0011684

chr2:
71781079-71781080

CA

C

intronic

De novo

-

Fu2022 E
Trost2022 G

DYSF

SP0036889

chr2:
71909675-71909675

C

T

exonic

De novo

synonymous SNV

NM_001130976
NM_001130986
NM_001130455
NM_001130977
NM_001130980
NM_001130984
NM_001130985
NM_003494
NM_001130978
NM_001130979
NM_001130981
NM_001130982
NM_001130983
NM_001130987

c.C6030T
c.C6033T
c.C6075T
c.C6093T
c.C6123T
c.C6096T
c.C6126T
c.C6072T
c.C6135T
c.C6165T
c.C6186T
c.C6168T
c.C6138T
c.C6189T

p.S2010S
p.S2011S
p.S2025S
p.S2031S
p.S2041S
p.S2032S
p.S2042S
p.S2024S
p.S2045S
p.S2055S
p.S2062S
p.S2056S
p.S2046S
p.S2063S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DYSF

SP0120843

chr2:
71709107-71709107

T

G

intronic

De novo

-

Fu2022 E

DYSF

SP0040514

chr2:
71908276-71908276

G

A

intronic

De novo

-

Fu2022 E

DYSF

ASDFI_1061

chr2:
71788955-71788955

C

T

exonic

De novo

nonsynonymous SNV

NM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982

c.C2194T
c.C2194T
c.C2197T
c.C2197T
c.C2239T
c.C2236T
c.C2287T
c.C2287T
c.C2239T
c.C2290T
c.C2290T
c.C2236T
c.C2329T
c.C2332T

p.H732Y
p.H732Y
p.H733Y
p.H733Y
p.H747Y
p.H746Y
p.H763Y
p.H763Y
p.H747Y
p.H764Y
p.H764Y
p.H746Y
p.H777Y
p.H778Y

12.08

-

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

DYSF

DEASD_0147_001

chr2:
71797809-71797809

C

T

exonic

De novo

stopgain

NM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982

c.C3070T
c.C3070T
c.C3073T
c.C3073T
c.C3115T
c.C3112T
c.C3163T
c.C3163T
c.C3115T
c.C3166T
c.C3166T
c.C3112T
c.C3205T
c.C3208T

p.R1024X
p.R1024X
p.R1025X
p.R1025X
p.R1039X
p.R1038X
p.R1055X
p.R1055X
p.R1039X
p.R1056X
p.R1056X
p.R1038X
p.R1069X
p.R1070X

44.0

1.679E-5

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

DYSF

AU3874302

chr2:
71956539-71956543

ACTCT

ACT

intergenic

De novo

-

Yuen2017 G

DYSF

1-0296-004

chr2:
71904750-71904750

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYSF

2-1283-003

chr2:
72076923-72076925

TGA

T

intergenic

De novo

-

Yuen2017 G

DYSF

12175.p1

chr2:
72036419-72036419

A

G

intergenic

De novo

-

Turner2016 G

DYSF

5-0033-004

chr2:
72129010-72129015

ACAGCT

A

intergenic

De novo

-

Yuen2017 G

DYSF

1-0402-004

chr2:
72033937-72033937

G

C

intergenic

De novo

-

Yuen2017 G

DYSF

A11

chr2:
72057557-72057557

G

A

intergenic

De novo

-

Wu2018 G

DYSF

2-0036-003

chr2:
71854444-71854444

G

A

intronic

De novo

-

Yuen2016 G

DYSF

11207.p1

chr2:
71791238-71791238

G

T

exonic

nonsynonymous SNV

NM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982

c.G2364T
c.G2364T
c.G2367T
c.G2367T
c.G2409T
c.G2406T
c.G2457T
c.G2457T
c.G2409T
c.G2460T
c.G2460T
c.G2406T
c.G2499T
c.G2502T

p.K788N
p.K788N
p.K789N
p.K789N
p.K803N
p.K802N
p.K819N
p.K819N
p.K803N
p.K820N
p.K820N
p.K802N
p.K833N
p.K834N

19.59

-

Zhou2022 GE

DYSF

3-0436-000

chr2:
71694933-71694949

GATAATAATAATAATAA

GATAATAATAATAA

intronic

De novo

-

Yuen2017 G

DYSF

2-1290-003

chr2:
72051860-72051860

G

T

intergenic

De novo

-

Yuen2017 G

DYSF

AU3724302

chr2:
72289569-72289569

C

T

intergenic

De novo

-

Yuen2017 G

DYSF

AU3053301

chr2:
72279519-72279519

T

G

intergenic

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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