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Results for "MUC12"
Variant Events: 269
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
MUC12
PN400219
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400284
chr7:
100616151-100616151
G
A
intronic
Unknown
11.48
-
Leblond2019
E
MUC12
PN400219
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400498
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400587
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400170
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400284
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400323
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400323
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
2-0057-003
chr7:
100612719-100612719
T
C
upstream
De novo
-
-
Yuen2017
G
MUC12
A8
chr7:
100633535-100633535
C
T
intronic
De novo
-
-
Wu2018
G
MUC12
PN400367
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400410
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
13374.p1
chr7:
100656246-100656246
G
T
intronic
De novo
-
-
Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
MUC12
PN400474
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400474
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400524
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400171
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400220
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400285
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400118
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400260
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400118
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400499
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400260
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400551
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
1-0559-003
chr7:
100618133-100618133
A
C
intronic
De novo
-
-
Yuen2017
G
MUC12
PN400325
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400590
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400590
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400369
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400369
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
CC975.202
chr7:
100645835-100645835
C
T
exonic
Mosaic
synonymous SNV
NM_001164462
c.C11991T
p.H3997H
-
5.0E-4
Lim2017
E
MUC12
PN400261
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
SSC06773
chr7:
100645791-100645791
A
C
exonic
Mosaic
nonsynonymous SNV
NM_001164462
c.A11947C
p.S3983R
2.125
4.426E-5
Lim2017
E
MUC12
SSC11437
chr7:
100646887-100646887
C
G
exonic
Mosaic
nonsynonymous SNV
NM_001164462
c.C13043G
p.A4348G
1.292
-
Lim2017
E
MUC12
SSC10971
chr7:
100645863-100645863
C
A
exonic
Mosaic
nonsynonymous SNV
NM_001164462
c.C12019A
p.L4007M
0.133
-
Lim2017
E
MUC12
SSC07671
chr7:
100643391-100643391
T
G
exonic
Mosaic
nonsynonymous SNV
NM_001164462
c.T9547G
p.S3183A
4.404
-
Lim2017
E
MUC12
SSC02556
chr7:
100645744-100645744
C
T
exonic
Mosaic
nonsynonymous SNV
NM_001164462
c.C11900T
p.T3967I
1.064
2.0E-4
Lim2017
E
MUC12
SSC03845
chr7:
100643718-100643718
T
G
exonic
Mosaic
nonsynonymous SNV
NM_001164462
c.T9874G
p.L3292V
0.722
4.799E-5
Lim2017
E
MUC12
PN400230
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400554
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400476
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400501
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400127
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400178
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400119
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400286
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400326
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400554
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400262
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400528
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400528
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400503
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400371
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400415
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400121
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400330
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400231
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400556
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400287
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400179
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400559
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400559
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400264
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400124
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400332
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400480
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400504
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400332
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
1-0184-003
chr7:
100639723-100639723
G
A
exonic
De novo
nonsynonymous SNV
NM_001164462
c.G5879A
p.R1960Q
1.047
-
Yuen2017
G
MUC12
PN400372
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400557
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400289
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400232
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400232
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400182
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400417
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400182
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
1-0052-004
chr7:
100618133-100618133
A
C
intronic
De novo
-
-
Yuen2017
G
MUC12
PN400266
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400292
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400341
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400125
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400505
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400375
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400483
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400560
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400292
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400532
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
AU4032307
chr7:
100621206-100621206
C
T
intronic
De novo
-
-
Yuen2017
G
MUC12
PN400532
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
2-1425-003
chr7:
100614072-100614072
A
T
intronic
De novo
-
-
Yuen2017
G
MUC12
PN400240
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
AU3302302
chr7:
100636175-100636175
G
A
exonic
De novo
synonymous SNV
NM_001164462
c.G2331A
p.T777T
-
0.0033
Yuen2017
G
MUC12
PN400424
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400128
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
mAGRE5549
chr7:
100649787-100649787
C
T
exonic
Maternal
stopgain
NM_001164462
c.C14992T
p.Q4998X
54.0
-
Cirnigliaro2023
G
MUC12
PN400424
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400100
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400128
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
EGAN00001101244
chr7:
100655696-100655699
GAAC
G
exonic
De novo
nonframeshift deletion
NM_001164462
c.15372_15374del
p.5124_5125del
-
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
MUC12
PN400343
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400297
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400533
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400533
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400506
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400484
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
SSC04687
chr7:
100641838-100641838
C
T
exonic
De novo
nonsynonymous SNV
NM_001164462
c.C7994T
p.P2665L
5.771
-
Fu2022
E
MUC12
PN400562
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400562
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400102
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400190
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400190
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400129
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400129
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400380
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400301
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400564
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400431
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400507
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400272
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400380
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400272
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400431
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400534
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400103
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400347
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400347
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400534
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400564
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
08C75363
chr7:
100648720-100648720
A
T
exonic
De novo
nonsynonymous SNV
NM_001164462
c.A14876T
p.E4959V
0.196
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
MUC12
PN400103
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
SP0035635
chr7:
100643824-100643824
C
T
exonic
De novo
nonsynonymous SNV
NM_001164462
c.C9980T
p.T3327M
0.335
0.002
Fu2022
E
MUC12
SP0047678
chr7:
100634872-100634872
C
T
exonic
De novo
nonsynonymous SNV
NM_001164462
c.C1028T
p.T343I
3.58
-
Fu2022
E
MUC12
PN400487
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
SP0041779
chr7:
100652023-100652023
G
A
exonic
De novo
nonsynonymous SNV
NM_001164462
c.G15167A
p.S5056N
2.937
-
Fu2022
E
MUC12
14062.p1
chr7:
100657389-100657389
C
A
intronic
De novo
-
-
Satterstrom2020
E
Trost2022
G
MUC12
SP0114485
chr7:
100635265-100635265
C
CCTAGCACCACATCTGCCCTTGTTGAAGAACCT
exonic
De novo
stopgain
NM_001164462
c.1421_1422insCTAGCACCACATCTGCCCTTGTTGAAGAACCT
p.S474_M475delinsSX
-
-
Fu2022
E
MUC12
PN400305
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400132
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400508
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400132
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400434
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400565
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400273
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400348
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400104
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
2-1254-003
chr7:
100636285-100636285
C
T
exonic
De novo
nonsynonymous SNV
NM_001164462
c.C2441T
p.T814I
1.423
0.0103
Yuen2017
G
MUC12
PN400104
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
2-1339-003
chr7:
100618137-100618137
C
T
intronic
De novo
-
-
Yuen2017
G
MUC12
PN400133
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400306
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400385
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400195
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400248
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400488
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400306
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400488
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400439
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400512
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400439
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400568
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400108
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400539
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400203
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400137
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400249
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400249
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
UK10K_SKUSE5080180
chr7:
100636140-100636140
G
T
exonic
De novo
stopgain
NM_001164462
c.G2296T
p.E766X
22.0
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
MUC12
PN400575
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400540
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400308
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400514
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400386
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400308
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400514
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400111
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400489
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400489
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400279
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400279
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400144
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400443
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400443
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400312
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400391
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400542
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
AU3951301
chr7:
100643689-100643689
C
G
exonic
De novo
nonsynonymous SNV
NM_001164462
c.C9845G
p.T3282R
0.238
5.0E-4
Yuen2017
G
MUC12
PN400205
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400205
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400252
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400576
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400542
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400515
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400149
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400352
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
EL004_201
chr7:
100655865-100655865
G
A
intronic
De novo
-
-
Fu2022
E
MUC12
PN400149
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400352
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400113
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400579
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400253
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400281
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400253
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400393
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400313
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400455
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400517
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400517
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
5-0014-004
chr7:
100612719-100612719
T
C
upstream
De novo
-
-
Yuen2017
G
MUC12
PN400543
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400209
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400150
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400114
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400359
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400114
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400359
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400317
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400256
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400394
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400457
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400493
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400256
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400394
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400493
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400317
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400544
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400115
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400115
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400282
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
7-0100-003
chr7:
100618153-100618153
A
C
intronic
De novo
-
-
Yuen2017
G
MUC12
PN400157
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400361
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400213
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400213
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400157
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400361
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400518
chr7:
100616151-100616151
G
A
intronic
Unknown
11.48
-
Leblond2019
E
MUC12
PN400396
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400396
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400321
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400546
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400495
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
2-0307-004
chr7:
100612719-100612719
T
C
upstream
De novo
-
-
Yuen2017
G
MUC12
PN400464
chr7:
100616336-100616336
G
A
intronic
Unknown
11.98
-
Leblond2019
E
MUC12
PN400464
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400215
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-
Leblond2019
E
MUC12
PN400283
chr7:
100616185-100616185
C
T
intronic
Unknown
9.446
-