|
VAR_010431 |
SGCA_HUMAN |
L173P |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-9 |
0 |
-54 |
N.A. |
|
VAR_010391 |
SGCB_HUMAN |
R91L |
Limb-girdle muscular dystrophy type 2E (LGMD2E) |
Disease |
-1 |
0 |
0 |
N.A. |
|
VAR_010432 |
SGCA_HUMAN |
P228Q |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010433 |
SGCA_HUMAN |
V247M |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-44 |
0 |
0 |
N.A. |
|
VAR_010392 |
SGCB_HUMAN |
R91P |
Limb-girdle muscular dystrophy type 2E (LGMD2E) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010418 |
SGCA_HUMAN |
V196I |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
0 |
112 |
N.A. |
|
VAR_010408 |
SGCA_HUMAN |
R74W |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
0 |
453 |
N.A. |
|
VAR_010414 |
SGCA_HUMAN |
I103T |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-1 |
-28 |
0 |
N.A. |
|
VAR_010417 |
SGCA_HUMAN |
L158F |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
22 |
0 |
48 |
N.A. |
|
VAR_010389 |
SGCA_HUMAN |
V175A |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-13 |
0 |
-125 |
N.A. |
|
VAR_037966 |
SGCA_HUMAN |
E137G |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
8 |
-9 |
210 |
N.A. |
|
VAR_010416 |
SGCA_HUMAN |
E137K |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
-6 |
-100 |
N.A. |
|
VAR_010395 |
SGCB_HUMAN |
T151R |
Limb-girdle muscular dystrophy type 2E (LGMD2E) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010420 |
SGCA_HUMAN |
V242A |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-9 |
0 |
-129 |
N.A. |
|
VAR_010415 |
SGCA_HUMAN |
I124T |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-3 |
-2 |
-81 |
N.A. |
|
VAR_010409 |
SGCA_HUMAN |
L89P |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-2 |
-1 |
0 |
N.A. |
|
VAR_010413 |
SGCA_HUMAN |
R98C |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-1 |
0 |
0 |
N.A. |
|
VAR_010410 |
SGCA_HUMAN |
G91R |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-1 |
-1 |
-23 |
N.A. |
|
VAR_010404 |
SGCA_HUMAN |
R34C |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
502 |
-1 |
0 |
N.A. |
|
VAR_010411 |
SGCA_HUMAN |
A93V |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
11 |
0 |
0 |
N.A. |
|
VAR_010407 |
SGCA_HUMAN |
G68E |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010403 |
SGCA_HUMAN |
L31P |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010412 |
SGCA_HUMAN |
D97G |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
1 |
0 |
0 |
N.A. |
|
VAR_010406 |
SGCA_HUMAN |
Y62H |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-3 |
0 |
-55 |
N.A. |
|
VAR_026753 |
PSPC_HUMAN |
I73T |
Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010387 |
SGCA_HUMAN |
R77C |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
1 |
0 |
285 |
N.A. |
|
VAR_010388 |
SGCA_HUMAN |
R98H |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
-1 |
0 |
0 |
N.A. |
|
VAR_010390 |
SGCA_HUMAN |
R284C |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
0 |
0 |
0 |
N.A. |
|
VAR_010402 |
SGCA_HUMAN |
P30L |
Limb-girdle muscular dystrophy type 2D (LGMD2D) |
Disease |
3 |
0 |
-58 |
N.A. |
|
VAR_026756 |
PSPC_HUMAN |
L188Q |
Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) |
Disease |
-5 |
-1 |
0 |
N.A. |
