rs137853977
|
1.000 |
0.120 |
16 |
2057156 |
frameshift variant |
AT/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
1999 |
rs137854302
|
1.000 |
0.120 |
16 |
2079399 |
frameshift variant |
GGG/-;GG;GGGG
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2011 |
rs137854317
|
1.000 |
0.120 |
16 |
2088324 |
splice donor variant |
G/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2007 |
rs137854363
|
1.000 |
0.120 |
16 |
2084400 |
frameshift variant |
CT/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2006 |
rs1567489890
|
1.000 |
0.120 |
16 |
2077476 |
non coding transcript exon variant |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2015 |
rs397515152
|
1.000 |
0.120 |
16 |
2087943 |
splice donor variant |
T/C;G
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2007 |
rs45451497
|
1.000 |
0.120 |
16 |
2080179 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2006 |
rs45465195
|
1.000 |
0.120 |
16 |
2079159 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2011 |
rs45469099
|
1.000 |
0.120 |
16 |
2060805 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2011 |
rs45517159
|
1.000 |
0.120 |
16 |
2062006 |
missense variant |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2011 |
rs45517182
|
1.000 |
0.120 |
16 |
2064428 |
splice donor variant |
G/A;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2011 |
rs45517216
|
1.000 |
0.120 |
16 |
2072337 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2017 |
rs45517227
|
1.000 |
0.120 |
16 |
2072984 |
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 |
2 |
1999 |
2007 |
rs45517229
|
1.000 |
0.120 |
16 |
2074198 |
splice acceptor variant |
A/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2005 |
rs45517252
|
1.000 |
0.120 |
16 |
2075893 |
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 |
2 |
2001 |
2006 |
rs45517308
|
0.925 |
0.120 |
16 |
2081734 |
stop gained |
C/A;G;T
|
snv
|
8.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2011 |
rs796053505
|
1.000 |
0.120 |
16 |
2081780 |
frameshift variant |
-/T
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2018 |
rs1057521562
|
1.000 |
0.120 |
16 |
2063058 |
splice region variant |
G/A;C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137853995
|
1.000 |
0.120 |
16 |
2074254 |
missense variant |
T/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137854001
|
1.000 |
0.120 |
16 |
2081771 |
frameshift variant |
C/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137854046
|
1.000 |
0.120 |
16 |
2084591 |
frameshift variant |
-/G
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137854076
|
1.000 |
0.120 |
16 |
2079348 |
frameshift variant |
TG/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs137854144
|
1.000 |
0.120 |
16 |
2071790 |
frameshift variant |
AG/-;AGAG
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137854155
|
1.000 |
0.120 |
16 |
2076094 |
missense variant |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137854210
|
1.000 |
0.120 |
16 |
2081679 |
frameshift variant |
-/T
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |