rs1060499647
|
1.000 |
0.120 |
16 |
2064410 |
frameshift variant |
C/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1060500914
|
1.000 |
0.120 |
16 |
2076087 |
frameshift variant |
TCTG/-
|
delins
|
|
|
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 |
|
|
rs1060500931
|
0.925 |
0.120 |
16 |
2064302 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500934
|
1.000 |
0.120 |
16 |
2071845 |
frameshift variant |
C/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500938
|
1.000 |
0.120 |
16 |
2074383 |
frameshift variant |
CT/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500950
|
1.000 |
0.120 |
16 |
2086833 |
frameshift variant |
AATGACT/-
|
del
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500972
|
1.000 |
0.120 |
16 |
2085027 |
splice donor variant |
G/A;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064796970
|
1.000 |
0.120 |
16 |
2086818 |
missense variant |
G/A
|
snv
|
|
|
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 |
|
|
rs1131691965
|
0.882 |
0.200 |
16 |
2074394 |
splice region variant |
G/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1202939879
|
1.000 |
0.120 |
16 |
2080325 |
stop gained |
T/C;G
|
snv
|
4.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121964862
|
1.000 |
0.120 |
16 |
2063042 |
stop gained |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854018
|
1.000 |
0.120 |
16 |
2079581 |
frameshift variant |
CA/-
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854020
|
1.000 |
0.120 |
16 |
2057160 |
frameshift variant |
-/C
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854083
|
1.000 |
0.120 |
16 |
2085301 |
frameshift variant |
C/-
|
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 |
|
|
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 |
|
|
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 |
|
|
rs137854337
|
1.000 |
0.120 |
16 |
2071892 |
frameshift variant |
-/TACT
|
delins
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs137854361
|
1.000 |
0.120 |
16 |
2072364 |
splice donor variant |
G/A;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1441428144
|
1.000 |
0.120 |
16 |
2085231 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555439847
|
1.000 |
0.120 |
16 |
2087937 |
stop gained |
GA/TT
|
mnv
|
|
|
TUBEROUS SCLEROSIS 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|