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Results for "HLA-DRB1"
Variant Events: 317
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
HLA-DRB1
3-0456-000
chr6:
32558022-32558022
G
A
upstream
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400170
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400170
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400367
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400367
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400410
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400410
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400260
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400260
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400220
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400551
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400220
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400260
chr6:
32551935-32551935
G
C
exonic
Unknown
stopgain
NM_002124
c.C321G
p.Y107X
15.53
-
Leblond2019
E
HLA-DRB1
PN400551
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400171
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400285
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400171
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400220
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400285
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400369
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
2-1356-003
chr6:
32550138-32550138
C
T
intronic
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400412
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400412
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400369
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400369
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
A1412B
chr6:
32549363-32549363
C
T
exonic
De novo
nonsynonymous SNV
NM_002124
c.G623A
p.S208N
12.19
8.753E-5
Fu2022
E
HLA-DRB1
PN400230
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400286
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400286
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400501
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400501
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400230
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400178
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400127
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400178
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400127
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400127
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400477
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400371
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400477
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400371
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400371
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400231
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400231
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400559
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400559
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400559
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400287
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400287
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400416
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400530
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400504
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400504
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400264
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400416
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400530
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400416
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400530
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400264
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400264
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400372
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400480
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400289
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400289
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400332
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400332
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400372
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400480
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400372
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400480
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400289
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400505
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400417
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400505
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400182
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400182
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400417
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400341
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400341
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400483
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400560
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400341
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400483
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400560
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400266
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400266
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400375
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400375
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400560
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
13300.p1
chr6:
32552060-32552060
A
C
exonic
De novo
nonsynonymous SNV
NM_002124
c.T196G
p.S66A
1.267
5.323E-5
Satterstrom2020
E
HLA-DRB1
PN400240
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400240
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400532
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400532
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400128
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400100
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400128
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400484
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400506
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400484
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400343
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400484
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400506
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400100
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400424
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400100
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400424
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400297
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400297
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400562
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400343
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400343
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400297
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400562
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400562
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
SP0044301
chr6:
32551955-32551955
G
A
exonic
De novo
nonsynonymous SNV
NM_002124
c.C301T
p.R101W
15.02
7.477E-5
Fu2022
E
HLA-DRB1
PN400241
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400241
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400129
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400431
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400486
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400431
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
AU1448301
chr6:
32549643-32549643
G
A
intronic
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400129
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400129
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400301
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400301
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400564
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
AU4007301
chr6:
32550234-32550234
C
A
intronic
De novo
-
-
Yuen2017
G
HLA-DRB1
AU4394302
chr6:
32557177-32557177
G
T
intronic
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400272
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400272
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400431
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400486
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400301
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400564
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400564
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400347
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400534
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400347
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400534
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400534
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400383
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400487
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400508
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400305
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400383
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400383
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400487
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400508
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400487
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400565
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400565
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400305
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400434
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400305
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400434
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400538
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400538
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400273
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400273
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400565
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400248
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400195
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400248
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400195
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400248
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400348
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400348
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400538
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400348
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400133
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400488
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400133
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
3-0431-000
chr6:
32549253-32549253
G
T
intronic
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400488
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400195
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
3-0140-000
chr6:
32546335-32546335
T
C
downstream
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400277
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400512
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400512
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400512
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400277
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400277
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400539
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400539
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400349
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400349
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400349
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400308
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400514
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400308
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400514
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400203
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400203
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400203
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400489
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400489
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400540
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400489
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400575
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400514
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400540
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400575
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400111
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400111
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400111
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400443
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400443
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400350
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400350
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400205
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400205
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400205
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
2-1114-003
chr6:
32578565-32578565
G
GCT
intergenic
De novo
-
-
Yuen2017
G
HLA-DRB1
PN400515
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400252
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400391
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400252
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400391
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400252
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400391
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400515
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400515
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400149
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400149
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400579
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400579
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400281
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400209
chr6:
32549398-32549399
AC
A
exonic
Unknown
frameshift deletion
NM_002124
c.587delG
p.S196fs
-
0.0066
Leblond2019
E
HLA-DRB1
PN400393
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400209
chr6:
32549584-32549584
C
CT
exonic
Unknown
frameshift insertion
NM_002124
c.401dupA
p.K134fs
-
0.0561
Leblond2019
E
HLA-DRB1
PN400209
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400253
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400455
chr6:
32549579-32549580
TG
T
exonic
Unknown
frameshift deletion
NM_002124
c.406delC
p.Q136fs
-
0.0555
Leblond2019
E
HLA-DRB1
PN400281
chr6:
32549584-32549584
C
CT
exonic