ClinVar genetic disease variations for Pilomatrixoma:
5
(show all 27)
UniProtKB/Swiss-Prot genetic disease variations for Pilomatrixoma:
73
Cosmic variations for Pilomatrixoma:
8
(show top 50)
(show all 3143)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM143943797 |
TP53 |
skin,neck,carcinoma,NS
|
c.266G>A |
p.R89Q |
17:7674220-7674220 |
12 |
2 |
COSM142560281 |
TP53 |
skin,neck,carcinoma,NS
|
c.626G>A |
p.R209Q |
17:7674220-7674220 |
12 |
3 |
COSM144087106 |
TP53 |
skin,neck,carcinoma,NS
|
c.266G>A |
p.R89Q |
17:7674220-7674220 |
12 |
4 |
COSM144310203 |
TP53 |
skin,neck,carcinoma,NS
|
c.626G>A |
p.R209Q |
17:7674220-7674220 |
12 |
5 |
COSM142837352 |
TP53 |
skin,neck,carcinoma,NS
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
12 |
6 |
COSM145017657 |
TP53 |
skin,neck,carcinoma,NS
|
c.626G>A |
p.R209Q |
17:7674220-7674220 |
12 |
7 |
COSM143370869 |
TP53 |
skin,neck,carcinoma,NS
|
c.626G>A |
p.R209Q |
17:7674220-7674220 |
12 |
8 |
COSM133256111 |
TGFBR1 |
skin,neck,carcinoma,NS
|
c.1040C>T |
p.S347F |
9:99146601-99146601 |
12 |
9 |
COSM97906895 |
TGFBR1 |
skin,neck,carcinoma,NS
|
c.1016C>T |
p.S339F |
9:99146601-99146601 |
12 |
10 |
COSM135128838 |
TGFBR1 |
skin,neck,carcinoma,NS
|
c.1259C>T |
p.S420F |
9:99146601-99146601 |
12 |
11 |
COSM97922732 |
TGFBR1 |
skin,neck,carcinoma,NS
|
c.1247C>T |
p.S416F |
9:99146601-99146601 |
12 |
12 |
COSM84678061 |
SMO |
skin,neck,carcinoma,NS
|
c.1103C>T |
p.P368L |
7:129206332-129206332 |
12 |
13 |
COSM98728167 |
RARA |
skin,neck,carcinoma,NS
|
c.1384C>T |
p.P462S |
17:40356221-40356221 |
12 |
14 |
COSM107058787 |
RARA |
skin,neck,carcinoma,NS
|
c.1093C>T |
p.P365S |
17:40356221-40356221 |
12 |
15 |
COSM98724263 |
RARA |
skin,neck,carcinoma,NS
|
c.1432C>T |
p.P478S |
17:40356221-40356221 |
12 |
16 |
COSM86828717 |
RARA |
skin,neck,carcinoma,NS
|
c.1384C>T |
p.P462S |
17:40356221-40356221 |
12 |
17 |
COSM98707797 |
RARA |
skin,neck,carcinoma,NS
|
c.1369C>T |
p.P457S |
17:40356221-40356221 |
12 |
18 |
COSM94496058 |
RAD52 |
skin,neck,carcinoma,NS
|
c.439G>A |
p.V147M |
12:927173-927173 |
12 |
19 |
COSM133940534 |
RAD52 |
skin,neck,carcinoma,NS
|
c.439G>A |
p.V147M |
12:927173-927173 |
12 |
20 |
COSM107373333 |
RAD52 |
skin,neck,carcinoma,NS
|
c.439G>A |
p.V147M |
12:927173-927173 |
12 |
21 |
COSM130526023 |
RAD52 |
skin,neck,carcinoma,NS
|
c.439G>A |
p.V147M |
12:927173-927173 |
12 |
22 |
COSM96948694 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
23 |
COSM97161923 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
24 |
COSM96619514 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
25 |
COSM97161935 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
26 |
COSM144156675 |
PTPRT |
skin,neck,carcinoma,NS
|
c.473G>A |
p.G158E |
20:42352227-42352227 |
12 |
27 |
COSM96619533 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
28 |
COSM93273665 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
29 |
COSM96721565 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
30 |
COSM96835332 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
31 |
COSM142597931 |
PTPRT |
skin,neck,carcinoma,NS
|
c.454C>T |
p.S152L |
20:42352239-42352239 |
12 |
32 |
COSM144156682 |
PTPRT |
skin,neck,carcinoma,NS
|
c.461C>T |
p.S154L |
20:42352239-42352239 |
12 |
33 |
COSM97061657 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
34 |
COSM96835350 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
35 |
COSM96721578 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
36 |
COSM96948708 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
37 |
COSM93273656 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
12 |
38 |
COSM97061670 |
PTPRT |
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
12 |
39 |
COSM142597920 |
PTPRT |
skin,neck,carcinoma,NS
|
c.466G>A |
p.G156E |
20:42352227-42352227 |
12 |
40 |
COSM101904169 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1261C>T |
p.P421S |
9:8518130-8518130 |
12 |
41 |
COSM92948518 |
PTPRD |
skin,neck,carcinoma,NS
|
c.5048C>T |
p.S1683F |
9:8341168-8341168 |
12 |
42 |
COSM132595830 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1243C>T |
p.P415S |
9:8518130-8518130 |
12 |
43 |
COSM132601883 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1718G>A |
p.S573N |
9:8504347-8504347 |
12 |
44 |
COSM132313437 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1261C>T |
p.P421S |
9:8518130-8518130 |
12 |
45 |
COSM102248340 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1706G>A |
p.S569N |
9:8504347-8504347 |
12 |
46 |
COSM102241575 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1231C>T |
p.P411S |
9:8518130-8518130 |
12 |
47 |
COSM92952483 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1736G>A |
p.S579N |
9:8504347-8504347 |
12 |
48 |
COSM102146055 |
PTPRD |
skin,neck,carcinoma,NS
|
c.3818C>T |
p.S1273F |
9:8341168-8341168 |
12 |
49 |
COSM117943076 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1736G>A |
p.S579N |
9:8504347-8504347 |
12 |
50 |
COSM102142838 |
PTPRD |
skin,neck,carcinoma,NS
|
c.1252C>T |
p.P418S |
9:8518130-8518130 |
12 |
|