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Results for "IGSF3"
Variant Events: 867
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
IGSF3
PN400410
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400410
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400410
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400410
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400260
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400260
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400551
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400551
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400260
chr1:
117131406-117131406
C
T
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.G2350A
c.G2410A
p.V784M
p.V804M
21.2
8.383E-6
Leblond2019
E
IGSF3
PN400260
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400260
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400260
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400551
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400551
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400412
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400412
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400412
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400412
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400261
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400261
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400261
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400261
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400261
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400554
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400554
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400554
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400554
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400262
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400415
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400262
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400262
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400262
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400415
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400415
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400415
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400556
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400556
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400556
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400556
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400416
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400264
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400416
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400264
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400416
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400264
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400416
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400264
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400416
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400557
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
mAGRE4635
chr1:
117122284-117122285
CG
C
exonic
Maternal
frameshift deletion
NM_001007237
NM_001542
c.3063delC
c.3123delC
p.D1021fs
p.D1041fs
-
8.894E-5
Cirnigliaro2023
G
IGSF3
PN400557
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400557
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400557
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400417
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400417
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400266
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400266
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400417
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400417
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400560
chr1:
117142707-117142707
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1885T
c.C1945T
p.R629C
p.R649C
18.72
0.0011
Leblond2019
E
IGSF3
PN400266
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400266
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400560
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400560
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400560
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400560
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400100
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400267
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400424
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400424
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400267
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400267
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400100
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400100
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400100
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400424
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400100
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400424
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400562
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400562
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400562
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400562
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400267
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400562
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400431
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400431
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400431
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400272
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400272
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400564
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400272
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400564
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400431
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400272
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400564
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400272
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400564
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400103
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400103
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400103
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400103
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400434
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400565
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400434
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400565
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400273
chr1:
117131406-117131406
C
T
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.G2350A
c.G2410A
p.V784M
p.V804M
21.2
8.383E-6
Leblond2019
E
IGSF3
PN400273
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400565
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400434
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400434
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400565
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400434
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400104
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400104
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400104
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400104
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400273
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400273
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400273
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400273
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400439
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400568
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400439
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400568
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400568
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400439
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400568
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400439
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400568
chr1:
117142707-117142707
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1885T
c.C1945T
p.R629C
p.R649C
18.72
0.0011
Leblond2019
E
IGSF3
PN400439
chr1:
117131406-117131406
C
T
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.G2350A
c.G2410A
p.V784M
p.V804M
21.2
8.383E-6
Leblond2019
E
IGSF3
PN400108
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400277
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400108
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400108
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400277
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400277
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400277
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400108
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400575
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400441
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400441
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400575
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400441
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400575
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400441
chr1:
117156531-117156531
G
A
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.C688T
c.C688T
p.R230C
p.R230C
17.55
8.0E-4
Leblond2019
E
IGSF3
PN400441
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400575
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400111
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400111
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400279
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400111
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400111
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400279
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400279
chr1:
117142707-117142707
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1885T
c.C1945T
p.R629C
p.R649C
18.72
0.0011
Leblond2019
E
IGSF3
PN400279
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400279
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400443
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400443
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400576
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400576
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400443
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400443
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400576
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400576
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400576
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400113
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400280
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400113
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400280
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400113
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400113
chr1:
117156531-117156531
G
A
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.C688T
c.C688T
p.R230C
p.R230C
17.55
8.0E-4
Leblond2019
E
IGSF3
PN400280
chr1:
117131400-117131400
C
A
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G2356T
c.G2416T
p.E786X
p.E806X
40.0
-
Leblond2019
E
IGSF3
PN400113
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400280
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400280
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400455
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400579
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400455
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400579
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400579
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400579
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400455
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400455
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400281
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400281
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400281
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400281
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400114
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400114
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400114
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400114
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400581
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400581
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400581
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400581
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400282
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400457
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400282
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400457
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400282
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400457
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400282
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400457
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400115
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400582
chr1:
117142707-117142707
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1885T
c.C1945T
p.R629C
p.R649C
18.72
0.0011
Leblond2019
E
IGSF3
PN400115
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400115
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400115
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400582
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400582
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400582
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400582
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400464
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400464
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400464
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400464
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400283
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400116
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400283
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400283
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400283
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400584
chr1:
117142868-117142868
C
T
exonic
Unknown
stopgain
NM_001007237
NM_001542
c.G1724A
c.G1784A
p.W575X
p.W595X
35.0
-
Leblond2019
E
IGSF3
PN400584
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400584
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400116
chr1:
117156459-117156459
C
T
exonic
Unknown
nonsynonymous SNV
NM_001542
NM_001007237
c.G760A
c.G760A
p.D254N
p.D254N
31.0
-
Leblond2019
E
IGSF3
PN400116
chr1:
117146504-117146504
G
A
exonic
Unknown
nonsynonymous SNV
NM_001007237
NM_001542
c.C1366T
c.C1426T
p.R456C
p.R476C
26.2
8.361E-6
Leblond2019
E
IGSF3
PN400116
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3
PN400584
chr1:
117156585-117156585
G
A
exonic
Unknown
stopgain
NM_001542
NM_001007237
c.C634T
c.C634T
p.Q212X
p.Q212X
37.0
8.27E-6
Leblond2019
E
IGSF3