rs121918043
|
0.925 |
0.120 |
4 |
88046854 |
missense variant |
A/T
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1997 |
2018 |
rs1553925453
|
0.925 |
0.120 |
4 |
88038371 |
missense variant |
C/T
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1997 |
2018 |
rs1060503526
|
0.925 |
0.120 |
4 |
88038380 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1131692280
|
0.925 |
0.120 |
4 |
88043458 |
splice donor variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1135401753
|
1.000 |
0.120 |
4 |
88046780 |
stop gained |
C/G
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121918039
|
1.000 |
0.120 |
4 |
88043277 |
stop gained |
G/A
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121918040
|
0.925 |
0.120 |
4 |
88065479 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121918041
|
1.000 |
0.120 |
4 |
88043351 |
stop gained |
C/T
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121918042
|
1.000 |
0.120 |
4 |
88046712 |
stop gained |
C/T
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1302726543
|
0.925 |
0.120 |
4 |
88019499 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs145877597
|
1.000 |
0.120 |
4 |
88038372 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs147654263
|
1.000 |
0.120 |
4 |
88067959 |
missense variant |
G/A
|
snv
|
3.0E-03
|
3.1E-03
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553923513
|
1.000 |
0.120 |
4 |
88008210 |
frameshift variant |
GGCCCGCCGTGCCCCAGCCCAG/-
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553924174
|
1.000 |
0.120 |
4 |
88019552 |
frameshift variant |
-/C
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553925459
|
1.000 |
0.120 |
4 |
88038392 |
frameshift variant |
G/-
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553925467
|
1.000 |
0.120 |
4 |
88038494 |
frameshift variant |
G/-
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553925470
|
0.925 |
0.120 |
4 |
88038502 |
splice region variant |
AAGT/-
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553926929
|
1.000 |
0.120 |
4 |
88056272 |
splice region variant |
G/A
|
snv
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553928730
|
1.000 |
0.120 |
4 |
88074812 |
frameshift variant |
C/-
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560598042
|
1.000 |
0.120 |
4 |
88019554 |
frameshift variant |
-/C
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560608729
|
1.000 |
0.120 |
4 |
88038406 |
frameshift variant |
C/AGA
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560617356
|
1.000 |
0.120 |
4 |
88052064 |
frameshift variant |
TCAA/-
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560620277
|
1.000 |
0.120 |
4 |
88056106 |
frameshift variant |
TAACAGGACC/AACAGG
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560621750
|
1.000 |
0.120 |
4 |
88058018 |
frameshift variant |
AC/T
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560628245
|
1.000 |
0.120 |
4 |
88068039 |
frameshift variant |
-/T
|
delins
|
|
|
Polycystic kidney disease, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|