rs45507199
|
0.925 |
0.120 |
16 |
2088294 |
missense variant |
G/A;C;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
13 |
1998 |
2017 |
rs45517418
|
1.000 |
0.120 |
16 |
2088504 |
missense variant |
A/C;G
|
snv
|
8.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1996 |
2017 |
rs777166275
|
1.000 |
0.120 |
16 |
2088533 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
4.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1996 |
2017 |
rs45459299
|
1.000 |
0.120 |
16 |
2088314 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1996 |
2005 |
rs45517413
|
1.000 |
0.120 |
16 |
2088297 |
missense variant |
T/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1996 |
2005 |
rs45517412
|
0.882 |
0.200 |
16 |
2088293 |
missense variant |
C/G;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
11 |
1998 |
2016 |
rs137854218
|
0.925 |
0.120 |
16 |
2088293 |
inframe insertion |
CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs1064792923
|
1.000 |
0.120 |
16 |
2088461 |
frameshift variant |
TCCAACCCCAGCCTAC/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1997 |
2015 |
rs45517411
|
1.000 |
0.120 |
16 |
2088286 |
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 |
5 |
1997 |
2015 |
rs137854397
|
1.000 |
0.120 |
16 |
2088312 |
splice donor variant |
GCCAGCGGGTAGGGAATATGGGGCTCC/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2014 |
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 |
rs1567135103
|
1.000 |
0.120 |
16 |
2088579 |
stop lost |
CCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs45472701
|
1.000 |
0.120 |
16 |
2088236 |
stop gained |
C/A;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1060499676
|
1.000 |
0.120 |
16 |
2088234 |
stop gained |
C/G
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854251
|
1.000 |
0.120 |
16 |
2088227 |
frameshift variant |
A/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs45517404
|
1.000 |
0.120 |
16 |
2088226 |
splice acceptor variant |
G/A;C;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878854118
|
1.000 |
0.120 |
16 |
2088452 |
frameshift variant |
G/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|