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Results for "PABPC3"
Variant Events: 405
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
PABPC3
PN400548
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400407
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400259
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400498
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400498
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400170
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400498
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400548
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400548
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400410
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400410
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400323
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400323
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400323
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400410
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400499
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400551
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400171
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400325
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400171
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400325
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400325
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400551
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400551
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400261
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400412
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400412
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400412
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400326
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400326
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400554
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400554
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400501
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400501
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400326
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400501
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400178
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400178
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400554
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400178
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400262
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400262
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400503
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400415
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400330
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400330
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400503
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400415
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400556
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400556
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400330
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400556
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400179
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400179
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400416
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400264
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400264
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400557
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400557
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400557
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400182
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400182
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400417
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400505
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400417
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400505
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400505
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400182
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400266
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400266
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400341
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400266
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400341
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400560
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400560
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400560
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400100
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400100
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400100
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400424
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400506
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400424
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400506
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400343
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400102
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400190
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400102
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400190
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400190
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400507
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400431
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400507
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400431
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400272
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400272
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400272
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400347
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400103
chr13:
25671456-25671456
C
T
exonic
Unknown
nonsynonymous SNV
NM_030979
c.C1120T
p.R374C
14.86
-
Leblond2019
E
PABPC3
PN400347
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400347
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400103
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400103
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400103
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400508
chr13:
25671456-25671456
C
T
exonic
Unknown
nonsynonymous SNV
NM_030979
c.C1120T
p.R374C
14.86
-
Leblond2019
E
PABPC3
PN400508
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400434
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400434
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400508
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400508
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400565
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400273
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400565
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400104
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400104
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400104
chr13:
25671456-25671456
C
T
exonic
Unknown
nonsynonymous SNV
NM_030979
c.C1120T
p.R374C
14.86
-
Leblond2019
E
PABPC3
PN400104
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400273
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400273
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400273
chr13:
25671456-25671456
C
T
exonic
Unknown
nonsynonymous SNV
NM_030979
c.C1120T
p.R374C
14.86
-
Leblond2019
E
PABPC3
PN400195
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400195
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400195
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400348
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400348
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400439
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400439
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400439
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400568
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400512
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400568
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400568
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400108
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400108
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400108
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400441
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400575
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400575
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400575
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400203
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400203
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400203
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400514
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400279
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400279
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400514
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400514
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400350
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400111
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400111
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400111
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400350
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400280
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400205
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400205
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400205
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400515
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400515
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400515
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400113
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400113
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400113
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400579
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400455
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400579
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400281
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400281
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400579
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400455
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
AU3398301
chr13:
25682546-25682546
T
A
intergenic
De novo
-
-
Yuen2017
G
PABPC3
PN400281
chr13:
25671456-25671456
C
T
exonic
Unknown
nonsynonymous SNV
NM_030979
c.C1120T
p.R374C
14.86
-
Leblond2019
E
PABPC3
PN400281
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400517
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400114
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400359
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400209
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400209
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400517
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400517
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400114
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400114
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400457
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400581
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400581
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400581
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400282
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400282
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400282
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400518
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400518
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400582
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400582
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400582
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400361
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400361
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400518
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400213
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400213
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400361
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400283
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400283
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400116
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400116
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400464
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400283
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400363
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400464
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400464
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400521
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400521
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400521
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400116
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400470
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400470
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400470
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400284
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400117
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400117
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400117
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400587
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400284
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400284
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400587
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400367
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400524
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400220
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400474
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400220
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400220
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400474
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400285
chr13:
25671210-25671210
C
T
exonic
Unknown
stopgain
NM_030979
c.C874T
p.Q292X
35.0
5.0E-4
Leblond2019
E
PABPC3
PN400118
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400285
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400527
chr13:
25671272-25671273
AG
A
exonic
Unknown
frameshift deletion
NM_030979
c.937delG
p.A313fs
-
-
Leblond2019
E
PABPC3
PN400527
chr13:
25671097-25671097
A
AT
exonic
Unknown
frameshift insertion
NM_030979
c.761_762insT
p.K254fs
-
0.1057
Leblond2019
E
PABPC3
PN400369
chr13:
25671097-25671097