ClinVar genetic disease variations for Large Congenital Melanocytic Nevus:
5
Cosmic variations for Large Congenital Melanocytic Nevus:
8
(show top 50)
(show all 178)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM146274590 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.100C>T |
p.P34S |
7:98881250-98881250 |
8 |
2 |
COSM113095017 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.3248C>T |
p.S1083L |
7:98930064-98930064 |
8 |
3 |
COSM91896183 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.100C>T |
p.P34S |
7:98881250-98881250 |
8 |
4 |
COSM94313279 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.3251C>T |
p.S1084L |
7:98930064-98930064 |
8 |
5 |
COSM113091712 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.100C>T |
p.P34S |
7:98881250-98881250 |
8 |
6 |
COSM91899482 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.3251C>T |
p.S1084L |
7:98930064-98930064 |
8 |
7 |
COSM94308860 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.100C>T |
p.P34S |
7:98881250-98881250 |
8 |
8 |
COSM146278644 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.3248C>T |
p.S1083L |
7:98930064-98930064 |
8 |
9 |
COSM143945161 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.379G>A |
p.E127K |
17:7673764-7673764 |
8 |
10 |
COSM144652672 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
8 |
11 |
COSM144014790 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.823G>A |
p.E275K |
17:7673764-7673764 |
8 |
12 |
COSM142561493 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
8 |
13 |
COSM142838326 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
8 |
14 |
COSM93185054 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
8 |
15 |
COSM144311386 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
8 |
16 |
COSM106054649 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
8 |
17 |
COSM143158111 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.379G>A |
p.E127K |
17:7673764-7673764 |
8 |
18 |
COSM87899887 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
8 |
19 |
COSM122272986 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.460G>A |
p.E154K |
17:7673764-7673764 |
8 |
20 |
COSM144087977 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.379G>A |
p.E127K |
17:7673764-7673764 |
8 |
21 |
COSM112254871 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
8 |
22 |
COSM105621918 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.782+417G>A |
p.? |
17:7673764-7673764 |
8 |
23 |
COSM121878041 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.460G>A |
p.E154K |
17:7673764-7673764 |
8 |
24 |
COSM111759858 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
8 |
25 |
COSM122735403 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.460G>A |
p.E154K |
17:7673764-7673764 |
8 |
26 |
COSM145019215 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
8 |
27 |
COSM143372155 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
8 |
28 |
COSM90383615 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
8 |
29 |
COSM132518298 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
8 |
30 |
COSM133355781 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
8 |
31 |
COSM106817239 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
8 |
32 |
COSM92242702 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
8 |
33 |
COSM131469864 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
8 |
34 |
COSM97434346 |
TBX22 |
skin,trunk,malignant melanoma,NS
|
c.1352G>T |
p.G451V |
23:80030900-80030900 |
8 |
35 |
COSM97441849 |
TBX22 |
skin,trunk,malignant melanoma,NS
|
c.1352G>T |
p.G451V |
23:80030900-80030900 |
8 |
36 |
COSM122682817 |
SMG7 |
skin,trunk,malignant melanoma,NS
|
c.2835C>T |
p.F945= |
1:183549276-183549276 |
8 |
37 |
COSM92424732 |
SMG7 |
skin,trunk,malignant melanoma,NS
|
c.2811C>T |
p.F937= |
1:183549276-183549276 |
8 |
38 |
COSM123610414 |
SMG7 |
skin,trunk,malignant melanoma,NS
|
c.2673C>T |
p.F891= |
1:183549276-183549276 |
8 |
39 |
COSM123786828 |
SMG7 |
skin,trunk,malignant melanoma,NS
|
c.2823C>T |
p.F941= |
1:183549276-183549276 |
8 |
40 |
COSM94397397 |
SMG7 |
skin,trunk,malignant melanoma,NS
|
c.2910C>T |
p.F970= |
1:183549276-183549276 |
8 |
41 |
COSM92728951 |
RAC1 |
skin,trunk,malignant melanoma,NS
|
c.85C>T |
p.P29S |
7:6387261-6387261 |
8 |
42 |
COSM93451454 |
RAC1 |
skin,trunk,malignant melanoma,NS
|
c.85C>T |
p.P29S |
7:6387261-6387261 |
8 |
43 |
COSM97047727 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2737G>A |
p.A913T |
6:127996931-127996931 |
8 |
44 |
COSM97085176 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2734G>A |
p.A912T |
6:127996931-127996931 |
8 |
45 |
COSM97005952 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2773G>A |
p.A925T |
6:127996931-127996931 |
8 |
46 |
COSM130466610 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2785G>A |
p.A929T |
6:127996931-127996931 |
8 |
47 |
COSM97134573 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2737G>A |
p.A913T |
6:127996931-127996931 |
8 |
48 |
COSM96962026 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2815G>A |
p.A939T |
6:127996931-127996931 |
8 |
49 |
COSM92907716 |
PTPRD |
skin,trunk,malignant melanoma,NS
|
c.2595G>A |
p.M865I |
9:8486222-8486222 |
8 |
50 |
COSM117903594 |
PTPRD |
skin,trunk,malignant melanoma,NS
|
c.1823-898G>A |
p.? |
9:8486222-8486222 |
8 |
|