rs45512692
|
1.000 |
0.120 |
16 |
2048649 |
stop gained |
A/T
|
snv
|
4.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515020
|
1.000 |
0.120 |
16 |
2048658 |
frameshift variant |
T/-;TT
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs137854360
|
1.000 |
0.120 |
16 |
2048747 |
frameshift variant |
CTGA/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854117
|
1.000 |
0.120 |
16 |
2048750 |
splice donor variant |
AGAG/-;AG
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567386603
|
1.000 |
0.120 |
16 |
2050399 |
splice acceptor variant |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1999 |
2014 |
rs1567387207
|
0.882 |
0.200 |
16 |
2050487 |
splice donor variant |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs45517096
|
1.000 |
0.120 |
16 |
2053340 |
splice acceptor variant |
A/G
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1567394860
|
1.000 |
0.120 |
16 |
2053362 |
stop gained |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs45517099
|
1.000 |
0.120 |
16 |
2053384 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1999 |
2010 |
rs45517102
|
1.000 |
0.120 |
16 |
2053453 |
splice donor variant |
G/A;C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1999 |
2007 |
rs45517105
|
1.000 |
0.120 |
16 |
2054295 |
splice acceptor variant |
G/A;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567398983
|
1.000 |
0.120 |
16 |
2054304 |
frameshift variant |
T/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1131691602
|
1.000 |
0.120 |
16 |
2054317 |
stop gained |
A/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs45517107
|
1.000 |
0.120 |
16 |
2054369 |
missense variant |
A/G
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500924
|
1.000 |
0.120 |
16 |
2054380 |
stop gained |
G/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555497690
|
1.000 |
0.120 |
16 |
2054399 |
missense variant |
C/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555497714
|
1.000 |
0.120 |
16 |
2054434 |
stop gained |
G/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854122
|
1.000 |
0.120 |
16 |
2055407 |
frameshift variant |
TT/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854359
|
1.000 |
0.120 |
16 |
2055488 |
stop gained |
-/A
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs45517117
|
1.000 |
0.120 |
16 |
2056195 |
splice acceptor variant |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2007 |
rs45517118
|
1.000 |
0.120 |
16 |
2056242 |
stop gained |
G/A;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs45488893
|
1.000 |
0.120 |
16 |
2056245 |
splice donor variant |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs794727906
|
1.000 |
0.120 |
16 |
2056643 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs45517119
|
1.000 |
0.120 |
16 |
2056653 |
stop gained |
C/G;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs45517122
|
1.000 |
0.120 |
16 |
2056675 |
missense variant |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1996 |
2005 |