Cosmic variations for 9q22.3 Microdeletion:
9
(show top 50)
(show all 3950)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM87963219 |
TP53 |
skin,lip,carcinoma,basal cell carcinoma
|
c.292C>T |
p.P98S |
17:7676077-7676077 |
4 |
2 |
COSM88408340 |
TP53 |
skin,arm,carcinoma,basal cell carcinoma
|
c.899C>G |
p.P300R |
17:7673721-7673721 |
4 |
3 |
COSM87932688 |
TP53 |
skin,eye,carcinoma,basal cell carcinoma
|
c.507G>A |
p.M169I |
17:7675105-7675105 |
4 |
4 |
COSM87898343 |
TP53 |
skin,arm,carcinoma,basal cell carcinoma
|
c.829T>G |
p.C277G |
17:7673791-7673791 |
4 |
5 |
COSM87905558 |
TP53 |
skin,eye,carcinoma,basal cell carcinoma
|
c.425C>T |
p.P142L |
17:7675187-7675187 |
4 |
6 |
COSM84674285 |
SMO |
skin,arm,carcinoma,basal cell carcinoma
|
c.1604G>T |
p.W535L |
7:129210500-129210500 |
4 |
7 |
COSM90854453 |
PTCH1 |
skin,hand,carcinoma,basal cell carcinoma
|
c.1922C>T |
p.P641L |
9:95469079-95469079 |
4 |
8 |
COSM90836104 |
PTCH1 |
skin,arm,carcinoma,basal cell carcinoma
|
c.1093C>T |
p.Q365* |
9:95479122-95479122 |
4 |
9 |
COSM90853331 |
PTCH1 |
skin,arm,carcinoma,basal cell carcinoma
|
c.3499G>T |
p.G1167W |
9:95449891-95449891 |
4 |
10 |
COSM90854292 |
PTCH1 |
skin,arm,carcinoma,basal cell carcinoma
|
c.1847G>A |
p.S616N |
9:95469813-95469813 |
4 |
11 |
COSM90851307 |
PTCH1 |
skin,hand,carcinoma,basal cell carcinoma
|
c.863G>A |
p.G288D |
9:95480472-95480472 |
4 |
12 |
COSM90840285 |
PTCH1 |
skin,arm,carcinoma,basal cell carcinoma
|
c.1160G>A |
p.W387* |
9:95479055-95479055 |
4 |
13 |
COSM90852565 |
PTCH1 |
skin,hand,carcinoma,basal cell carcinoma
|
c.1977G>A |
p.Q659= |
9:95469024-95469024 |
4 |
14 |
COSM90851684 |
PTCH1 |
skin,eye,carcinoma,basal cell carcinoma
|
c.1585A>T |
p.K529* |
9:95476776-95476776 |
4 |
15 |
COSM144087146 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.245C>T |
p.S82F |
17:7674241-7674241 |
4 |
16 |
COSM110721401 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.895C>T |
p.Q299* |
9:95479122-95479122 |
4 |
17 |
COSM111787839 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.507G>A |
p.M169I |
17:7675105-7675105 |
4 |
18 |
COSM143161891 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.-53C>T |
p.? |
17:7675187-7675187 |
4 |
19 |
COSM106081615 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.507G>A |
p.M169I |
17:7675105-7675105 |
4 |
20 |
COSM106489100 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.899C>G |
p.P300R |
17:7673721-7673721 |
4 |
21 |
COSM108468785 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.707G>A |
p.W236* |
9:95479055-95479055 |
4 |
22 |
COSM110739922 |
|
skin,hand,carcinoma,basal cell carcinoma
|
c.1724C>T |
p.P575L |
9:95469079-95469079 |
4 |
23 |
COSM111758565 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.829T>G |
p.C277G |
17:7673791-7673791 |
4 |
24 |
COSM103474500 |
|
skin,hand,carcinoma,basal cell carcinoma
|
c.1524G>A |
p.Q508= |
9:95469024-95469024 |
4 |
25 |
COSM122734234 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.326C>T |
p.S109F |
17:7674241-7674241 |
4 |
26 |
COSM110736919 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.1387A>T |
p.K463* |
9:95476776-95476776 |
4 |
27 |
COSM143180377 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.30G>A |
p.M10I |
17:7675105-7675105 |
4 |
28 |
COSM145017657 |
|
skin,lip,carcinoma,basal cell carcinoma
|
c.626G>A |
p.R209Q |
17:7674220-7674220 |
4 |
29 |
COSM144306811 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.422C>G |
p.P141R |
17:7673721-7673721 |
4 |
30 |
COSM144433421 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.422C>G |
p.P141R |
17:7673721-7673721 |
4 |
31 |
COSM142566102 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.308C>T |
p.P103L |
17:7675187-7675187 |
4 |
32 |
COSM105620345 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.722C>T |
p.S241F |
17:7674241-7674241 |
4 |
33 |
COSM144087102 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.352T>G |
p.C118G |
17:7673791-7673791 |
4 |
34 |
COSM122277530 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.29C>T |
p.P10L |
17:7675187-7675187 |
4 |
35 |
COSM98559054 |
|
skin,hand,carcinoma,basal cell carcinoma
|
c.1919C>T |
p.P640L |
9:95469079-95469079 |
4 |
36 |
COSM112259390 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.425C>T |
p.P142L |
17:7675187-7675187 |
4 |
37 |
COSM98555349 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.1582A>T |
p.K528* |
9:95476776-95476776 |
4 |
38 |
COSM144315215 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.308C>T |
p.P103L |
17:7675187-7675187 |
4 |
39 |
COSM142616860 |
|
skin,lip,carcinoma,basal cell carcinoma
|
c.175C>T |
p.P59S |
17:7676077-7676077 |
4 |
40 |
COSM143969746 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.30G>A |
p.M10I |
17:7675105-7675105 |
4 |
41 |
COSM144332541 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.390G>A |
p.M130I |
17:7675105-7675105 |
4 |
42 |
COSM142589741 |
|
skin,eye,carcinoma,basal cell carcinoma
|
c.390G>A |
p.M130I |
17:7675105-7675105 |
4 |
43 |
COSM108484684 |
|
skin,hand,carcinoma,basal cell carcinoma
|
c.1469C>T |
p.P490L |
9:95469079-95469079 |
4 |
44 |
COSM112253622 |
|
skin,lip,carcinoma,basal cell carcinoma
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
4 |
45 |
COSM121875973 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.433T>G |
p.C145G |
17:7673791-7673791 |
4 |
46 |
COSM144310197 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.712T>G |
p.C238G |
17:7673791-7673791 |
4 |
47 |
COSM103477254 |
|
skin,hand,carcinoma,basal cell carcinoma
|
c.1469C>T |
p.P490L |
9:95469079-95469079 |
4 |
48 |
COSM122271632 |
|
skin,arm,carcinoma,basal cell carcinoma
|
c.326C>T |
p.S109F |
17:7674241-7674241 |
4 |
49 |
COSM110711771 |
|
skin,lip,carcinoma,basal cell carcinoma
|
c.352C>T |
p.Q118* |
9:95485719-95485719 |
4 |
50 |
COSM106824708 |
|
skin,lip,carcinoma,basal cell carcinoma
|
c.1993C>T |
p.Q665* |
9:95467230-95467230 |
4 |
Copy number variations for 9q22.3 Microdeletion from CNVD:
7
# |
CNVD ID |
Chromosome |
Start |
End |
Type |
Gene Symbol |
CNVD Disease |
1 |
256423 |
9 |
93000000 |
101600000 |
Microdeletion |
TGFBR1 |
9q22.3 microdeletion syndrome |
|