rs118203478
|
0.882 |
0.200 |
9 |
132911492 |
frameshift variant |
-/A;AA
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2017 |
rs118203478
|
0.882 |
0.200 |
9 |
132911492 |
frameshift variant |
-/A;AA
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
3 |
1999 |
2013 |
rs118203478
|
0.882 |
0.200 |
9 |
132911492 |
frameshift variant |
-/A;AA
|
delins
|
|
|
Renal Insufficiency
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs118203478
|
0.882 |
0.200 |
9 |
132911492 |
frameshift variant |
-/A;AA
|
delins
|
|
|
Cortical Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs118203478
|
0.882 |
0.200 |
9 |
132911492 |
frameshift variant |
-/A;AA
|
delins
|
|
|
Renal cortical cysts
|
|
0.700 |
|
0 |
|
|
rs1554816394
|
1.000 |
0.120 |
9 |
132907332 |
frameshift variant |
-/C
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554814935
|
1.000 |
0.120 |
9 |
132902635 |
frameshift variant |
-/CGGTCATGCTGCAGCTGTCT
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1114167620
|
|
|
9 |
132921844 |
frameshift variant |
-/G
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1554817612
|
1.000 |
0.120 |
9 |
132912344 |
frameshift variant |
-/G
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564478705
|
1.000 |
0.120 |
9 |
132903753 |
frameshift variant |
-/GA
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554815246
|
1.000 |
0.120 |
9 |
132903678 |
frameshift variant |
-/GCTG
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs118203603
|
1.000 |
0.120 |
9 |
132905618 |
frameshift variant |
-/T
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2011 |
rs118203709
|
1.000 |
0.120 |
9 |
132900829 |
frameshift variant |
-/T
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs118203362
|
1.000 |
0.120 |
9 |
132925673 |
frameshift variant |
-/T;TT
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564488810
|
1.000 |
0.120 |
9 |
132911493 |
frameshift variant |
-/TC
|
ins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564504869
|
1.000 |
0.120 |
9 |
132928782 |
frameshift variant |
-/TTTAA
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1554815829
|
1.000 |
0.120 |
9 |
132905797 |
frameshift variant |
A/-
|
del
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554815856
|
1.000 |
0.120 |
9 |
132905820 |
frameshift variant |
A/-
|
del
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064796237
|
1.000 |
0.120 |
9 |
132906781 |
frameshift variant |
A/-;AA
|
delins
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397514802
|
1.000 |
0.120 |
9 |
132903766 |
missense variant |
A/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs118203454
|
1.000 |
0.120 |
9 |
132912370 |
stop gained |
A/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1323541164
|
1.000 |
0.120 |
9 |
132921834 |
missense variant |
A/C
|
snv
|
|
|
Bladder Neoplasm
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs118203345
|
1.000 |
0.120 |
9 |
132927229 |
missense variant |
A/C;G
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2013 |
2017 |
rs118203385
|
1.000 |
0.120 |
9 |
132923383 |
missense variant |
A/C;G
|
snv
|
|
|
Bladder Neoplasm
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs118203403
|
1.000 |
0.120 |
9 |
132921910 |
missense variant |
A/C;G;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |