6
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
HRAS |
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) | ‎‎
SNV |
Pathogenic |
12603 |
rs104894230 |
11:534288-534288 |
11:534288-534288 |
2 |
HRAS |
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) | ‎‎
SNV |
Pathogenic |
12606 |
rs104894228 |
11:534286-534286 |
11:534286-534286 |
3 |
HRAS |
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) | ‎‎
SNV |
Pathogenic |
12613 |
rs104894229 |
11:534289-534289 |
11:534289-534289 |
4 |
NRAS |
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) | ‎‎
SNV |
Pathogenic |
13900 |
rs11554290 |
1:115256529-115256529 |
1:114713908-114713908 |
5 |
NRAS |
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
13899 |
rs121434595 |
1:115258745-115258745 |
1:114716124-114716124 |
6 |
NRAS |
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
73058 |
rs121913254 |
1:115256530-115256530 |
1:114713909-114713909 |
7 |
|
46;X;inv(X)(q26q28)dn | ‎‎
inversion |
Uncertain significance |
267819 |
|
|
|
8 |
HRAS |
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) | ‎‎
SNV |
Benign |
40448 |
rs397517144 |
11:532686-532686 |
11:532686-532686 |
Cosmic variations for Large Congenital Melanocytic Nevus:
9
(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 |
COSM94313279 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.3251C>T |
p.S1084L |
7:98930064-98930064 |
12 |
2 |
COSM94308860 |
TRRAP |
skin,trunk,malignant melanoma,NS
|
c.100C>T |
p.P34S |
7:98881250-98881250 |
12 |
3 |
COSM87899887 |
TP53 |
skin,trunk,malignant melanoma,NS
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
12 |
4 |
COSM90383615 |
TNC |
skin,trunk,malignant melanoma,NS
|
c.1342C>G |
p.R448G |
9:115086389-115086389 |
12 |
5 |
COSM97441849 |
TBX22 |
skin,trunk,malignant melanoma,NS
|
c.1352G>T |
p.G451V |
23:80030900-80030900 |
12 |
6 |
COSM123786828 |
SMG7 |
skin,trunk,malignant melanoma,NS
|
c.2823C>T |
p.F941= |
1:183549276-183549276 |
12 |
7 |
COSM93451454 |
RAC1 |
skin,trunk,malignant melanoma,NS
|
c.85C>T |
p.P29S |
7:6387261-6387261 |
12 |
8 |
COSM130466610 |
PTPRK |
skin,trunk,malignant melanoma,NS
|
c.2785G>A |
p.A929T |
6:127996931-127996931 |
12 |
9 |
COSM101820401 |
PTPRD |
skin,trunk,malignant melanoma,NS
|
c.2595G>A |
p.M865I |
9:8486222-8486222 |
12 |
10 |
COSM96844714 |
PTEN |
skin,trunk,malignant melanoma,NS
|
c.112C>T |
p.P38S |
10:87894057-87894057 |
12 |
11 |
COSM88576208 |
PREX2 |
skin,trunk,malignant melanoma,NS
|
c.1387C>T |
p.R463C |
8:68069080-68069080 |
12 |
12 |
COSM96445193 |
PIK3CG |
skin,trunk,malignant melanoma,NS
|
c.1419C>T |
p.F473= |
7:106868980-106868980 |
12 |
13 |
COSM97107813 |
NRAS |
skin,trunk,malignant melanoma,NS
|
c.34G>A |
p.G12S |
1:114716127-114716127 |
12 |
14 |
COSM97107326 |
NRAS |
skin,trunk,malignant melanoma,NS
|
c.181C>A |
p.Q61K |
1:114713909-114713909 |
12 |
15 |
COSM97107359 |
NRAS |
skin,trunk,malignant melanoma,NS
|
c.182A>G |
p.Q61R |
1:114713908-114713908 |
12 |
16 |
COSM97107705 |
NRAS |
skin,trunk,malignant melanoma,NS
|
c.37G>A |
p.G13S |
1:114716124-114716124 |
12 |
17 |
COSM97108079 |
NRAS |
skin,trunk,malignant melanoma,NS
|
c.183A>T |
p.Q61H |
1:114713907-114713907 |
12 |
18 |
COSM93673532 |
NF1 |
skin,trunk,malignant melanoma,NS
|
c.2131C>T |
p.R711C |
17:31226564-31226564 |
12 |
19 |
COSM93682021 |
NF1 |
skin,trunk,malignant melanoma,NS
|
c.7189+1G>A |
p.? |
17:31343136-31343136 |
12 |
20 |
COSM94444782 |
MTOR |
skin,trunk,malignant melanoma,NS
|
c.2638A>G |
p.T880A |
1:11231311-11231311 |
12 |
21 |
COSM85776217 |
MSH6 |
skin,trunk,malignant melanoma,NS
|
c.4004A>G |
p.E1335G |
2:47806781-47806781 |
12 |
22 |
COSM85396550 |
MAP2K2 |
skin,trunk,malignant melanoma,NS
|
c.461C>T |
p.S154F |
19:4102443-4102443 |
12 |
23 |
COSM88445871 |
MAP2K1 |
skin,trunk,malignant melanoma,NS
|
c.607G>A |
p.E203K |
15:66481793-66481793 |
12 |
24 |
COSM87959936 |
KRAS |
skin,trunk,malignant melanoma,NS
|
c.130G>A |
p.V44I |
12:25227394-25227394 |
12 |
25 |
COSM88331257 |
KIT |
skin,trunk,malignant melanoma,NS
|
c.575G>A |
p.G192D |
4:54698521-54698521 |
12 |
26 |
COSM84993942 |
IL36A |
skin,trunk,malignant melanoma,NS
|
c.359C>T |
p.S120F |
2:113007926-113007926 |
12 |
27 |
COSM99120474 |
GRIN2A |
skin,trunk,malignant melanoma,NS
|
c.2252G>A |
p.G751E |
16:9798381-9798381 |
12 |
28 |
COSM87495322 |
GNAQ |
skin,trunk,malignant melanoma,NS
|
c.264G>T |
p.Q88H |
9:77922218-77922218 |
12 |
29 |
COSM93505355 |
EPHB4 |
skin,trunk,malignant melanoma,NS
|
c.2177C>T |
p.S726L |
7:100807522-100807522 |
12 |
30 |
COSM90896800 |
EPHA3 |
skin,trunk,malignant melanoma,NS
|
c.2525G>A |
p.R842Q |
3:89450205-89450205 |
12 |
31 |
COSM119256412 |
CDKN2A |
skin,trunk,malignant melanoma,NS
|
c.334C>G |
p.R112G |
9:21971025-21971025 |
12 |
32 |
COSM119234401 |
CDKN2A |
skin,trunk,malignant melanoma,NS
|
c.341C>A |
p.P114H |
9:21971018-21971018 |
12 |
33 |
COSM119229854 |
CDKN2A |
skin,trunk,malignant melanoma,NS
|
c.205G>T |
p.E69* |
9:21971154-21971154 |
12 |
34 |
COSM150563774 |
BRAF |
skin,trunk,malignant melanoma,NS
|
c.1799T>A |
p.V600E |
7:140753336-140753336 |
12 |
35 |
COSM150585368 |
BRAF |
skin,trunk,malignant melanoma,NS
|
c.1790T>G |
p.L597R |
7:140753345-140753345 |
12 |
36 |
COSM150621169 |
BRAF |
skin,trunk,malignant melanoma,NS
|
c.1390G>A |
p.G464R |
7:140781618-140781618 |
12 |
37 |
COSM92907716 |
|
skin,trunk,malignant melanoma,NS
|
c.2595G>A |
p.M865I |
9:8486222-8486222 |
12 |
38 |
COSM118787231 |
|
skin,trunk,malignant melanoma,NS
|
c.1799T>A |
p.V600E |
7:140753336-140753336 |
12 |
39 |
COSM149385292 |
|
skin,trunk,malignant melanoma,NS
|
c.1919T>A |
p.V640E |
7:140753336-140753336 |
12 |
40 |
COSM129332354 |
|
skin,trunk,malignant melanoma,NS
|
c.384C>A |
p.A128= |
9:21971018-21971018 |
12 |
41 |
COSM89629503 |
|
skin,trunk,malignant melanoma,NS
|
c.2252G>A |
p.G751E |
16:9798381-9798381 |
12 |
42 |
COSM143945161 |
|
skin,trunk,malignant melanoma,NS
|
c.379G>A |
p.E127K |
17:7673764-7673764 |
12 |
43 |
COSM88803061 |
|
skin,trunk,malignant melanoma,NS
|
c.1919T>A |
p.V640E |
7:140753336-140753336 |
12 |
44 |
COSM117903594 |
|
skin,trunk,malignant melanoma,NS
|
c.1823-898G>A |
p.? |
9:8486222-8486222 |
12 |
45 |
COSM144652672 |
|
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
12 |
46 |
COSM144014790 |
|
skin,trunk,malignant melanoma,NS
|
c.823G>A |
p.E275K |
17:7673764-7673764 |
12 |
47 |
COSM97047727 |
|
skin,trunk,malignant melanoma,NS
|
c.2737G>A |
p.A913T |
6:127996931-127996931 |
12 |
48 |
COSM86291646 |
|
skin,trunk,malignant melanoma,NS
|
c.334C>G |
p.R112G |
9:21971025-21971025 |
12 |
49 |
COSM102101829 |
|
skin,trunk,malignant melanoma,NS
|
c.1814-898G>A |
p.? |
9:8486222-8486222 |
12 |
50 |
COSM142561493 |
|
skin,trunk,malignant melanoma,NS
|
c.739G>A |
p.E247K |
17:7673764-7673764 |
12 |
|