ClinVar genetic disease variations for Muir-Torre Syndrome:
5
(show top 50)
(show all 105)
Cosmic variations for Muir-Torre Syndrome:
8
(show top 50)
(show all 1374)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM91859716 |
KRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
12:25245350-25245350 |
6 |
2 |
COSM87804005 |
KRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
12:25245350-25245350 |
6 |
3 |
COSM101951730 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
11:534288-534288 |
6 |
4 |
COSM105721382 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.182A>T |
p.Q61L |
11:533874-533874 |
6 |
5 |
COSM101967342 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.181C>A |
p.Q61K |
11:533875-533875 |
6 |
6 |
COSM105721476 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.181C>A |
p.Q61K |
11:533875-533875 |
6 |
7 |
COSM101967369 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
11:534288-534288 |
6 |
8 |
COSM112988963 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
11:534288-534288 |
6 |
9 |
COSM91331469 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.38G>T |
p.G13V |
11:534285-534285 |
6 |
10 |
COSM101951686 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.181C>A |
p.Q61K |
11:533875-533875 |
6 |
11 |
COSM101951953 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.38G>T |
p.G13V |
11:534285-534285 |
6 |
12 |
COSM91331287 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
11:534288-534288 |
6 |
13 |
COSM101967557 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.38G>T |
p.G13V |
11:534285-534285 |
6 |
14 |
COSM91331243 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.181C>A |
p.Q61K |
11:533875-533875 |
6 |
15 |
COSM112989160 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.38G>T |
p.G13V |
11:534285-534285 |
6 |
16 |
COSM105721529 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.35G>A |
p.G12D |
11:534288-534288 |
6 |
17 |
COSM112988925 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.181C>A |
p.Q61K |
11:533875-533875 |
6 |
18 |
COSM105721732 |
HRAS |
skin,trunk,other,keratoacanthoma
|
c.38G>T |
p.G13V |
11:534285-534285 |
6 |
19 |
COSM122741017 |
TP53 |
skin,trunk,carcinoma,NS
|
c.440G>A |
p.G147E |
17:7673784-7673784 |
5 |
20 |
COSM144653327 |
TP53 |
skin,face,carcinoma,NS
|
c.*131C>T |
p.? |
17:7670685-7670685 |
5 |
21 |
COSM112254631 |
TP53 |
skin,face,carcinoma,NS
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
5 |
22 |
COSM143371865 |
TP53 |
skin,face,carcinoma,NS
|
c.469C>T |
p.R157* |
17:7674945-7674945 |
5 |
23 |
COSM93183824 |
TP53 |
skin,face,carcinoma,NS
|
c.680C>T |
p.S227F |
17:7674283-7674283 |
5 |
24 |
COSM121875437 |
TP53 |
skin,face,carcinoma,NS
|
c.178C>T |
p.Q60* |
17:7674957-7674957 |
5 |
25 |
COSM143388508 |
TP53 |
skin,face,carcinoma,NS
|
c.629G>C |
p.R210T |
17:7674217-7674217 |
5 |
26 |
COSM111758868 |
TP53 |
skin,face,carcinoma,NS
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
5 |
27 |
COSM142570304 |
TP53 |
skin,face,carcinoma,NS
|
c.715C>T |
p.P239S |
17:7673788-7673788 |
5 |
28 |
COSM142560384 |
TP53 |
skin,face,carcinoma,NS
|
c.616G>T |
p.G206C |
17:7674230-7674230 |
5 |
29 |
COSM142742951 |
TP53 |
skin,face,carcinoma,NS
|
c.315G>A |
p.Q105= |
17:7675180-7675180 |
5 |
30 |
COSM105639284 |
TP53 |
skin,face,carcinoma,NS
|
c.712T>A |
p.C238S |
17:7674251-7674251 |
5 |
31 |
COSM112253879 |
TP53 |
skin,face,carcinoma,NS
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
5 |
32 |
COSM121878773 |
TP53 |
skin,face,carcinoma,NS
|
c.241C>T |
p.R81* |
17:7674894-7674894 |
5 |
33 |
COSM111776406 |
TP53 |
skin,face,carcinoma,NS
|
c.993+1G>A |
p.? |
17:7673534-7673534 |
5 |
34 |
COSM142837551 |
TP53 |
skin,face,carcinoma,NS
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
5 |
35 |
COSM122742188 |
TP53 |
skin,face,carcinoma,NS
|
c.58C>T |
p.P20S |
17:7675158-7675158 |
5 |
36 |
COSM122735020 |
TP53 |
skin,face,carcinoma,NS
|
c.190C>T |
p.R64* |
17:7674945-7674945 |
5 |
37 |
COSM88272290 |
TP53 |
skin,trunk,carcinoma,NS
|
c.480G>C |
p.M160I |
17:7675132-7675132 |
5 |
38 |
COSM144028845 |
TP53 |
skin,face,carcinoma,NS
|
c.679T>A |
p.C227S |
17:7674251-7674251 |
5 |
39 |
COSM144021997 |
TP53 |
skin,face,carcinoma,NS
|
c.421C>T |
p.P141S |
17:7675158-7675158 |
5 |
40 |
COSM144015364 |
TP53 |
skin,face,carcinoma,NS
|
c.604C>T |
p.R202* |
17:7674894-7674894 |
5 |
41 |
COSM143944858 |
TP53 |
skin,trunk,carcinoma,NS
|
c.109C>T |
p.R37* |
17:7674945-7674945 |
5 |
42 |
COSM143156879 |
TP53 |
skin,trunk,carcinoma,NS
|
c.245C>T |
p.S82F |
17:7674241-7674241 |
5 |
43 |
COSM144316210 |
TP53 |
skin,trunk,carcinoma,NS
|
c.716C>T |
p.P239L |
17:7673787-7673787 |
5 |
44 |
COSM121877621 |
TP53 |
skin,face,carcinoma,NS
|
c.190C>T |
p.R64* |
17:7674945-7674945 |
5 |
45 |
COSM93201188 |
TP53 |
skin,face,carcinoma,NS
|
c.993+1G>A |
p.? |
17:7673534-7673534 |
5 |
46 |
COSM106455733 |
TP53 |
skin,trunk,carcinoma,NS
|
c.853G>C |
p.E285Q |
17:7673767-7673767 |
5 |
47 |
COSM144658487 |
TP53 |
skin,face,carcinoma,NS
|
c.143C>A |
p.P48Q |
17:7676109-7676109 |
5 |
48 |
COSM142639459 |
TP53 |
skin,face,carcinoma,NS
|
c.597T>A |
p.C199* |
17:7674249-7674249 |
5 |
49 |
COSM105620390 |
TP53 |
skin,face,carcinoma,NS
|
c.733G>T |
p.G245C |
17:7674230-7674230 |
5 |
50 |
COSM144014436 |
TP53 |
skin,face,carcinoma,NS
|
c.553C>T |
p.R185* |
17:7674945-7674945 |
5 |
|