rs1325300747
|
1.000 |
0.120 |
16 |
2091857 |
stop gained |
G/A;C
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555444334
|
1.000 |
0.120 |
16 |
2090196 |
splice acceptor variant |
T/A;G
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555445192
|
1.000 |
0.120 |
16 |
2091077 |
frameshift variant |
CAGGCTCCGAGCC/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555450424
|
1.000 |
0.120 |
16 |
2102506 |
stop gained |
GCC/T
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555451093
|
1.000 |
0.120 |
16 |
2103512 |
frameshift variant |
C/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555453360
|
1.000 |
0.120 |
16 |
2106840 |
frameshift variant |
G/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555453872
|
1.000 |
0.120 |
16 |
2107947 |
frameshift variant |
-/CAGCCGC
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555454512
|
1.000 |
0.120 |
16 |
2108860 |
stop gained |
G/A
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555455998
|
1.000 |
0.120 |
16 |
2110706 |
frameshift variant |
G/-
|
del
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs747483368
|
0.925 |
0.240 |
16 |
2114808 |
missense variant |
G/A;C
|
snv
|
8.1E-06
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs752114168
|
1.000 |
0.120 |
16 |
2106877 |
stop gained |
G/A;C
|
snv
|
3.4E-05
|
1.4E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs777460677
|
0.925 |
0.120 |
16 |
2093917 |
inframe insertion |
AGCCAC/-;AGCCACAGCCAC
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1045675831
|
1.000 |
0.120 |
16 |
2089927 |
stop gained |
G/A;C
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1222094213
|
1.000 |
0.120 |
16 |
2104564 |
stop gained |
G/A;C
|
snv
|
5.9E-06
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1555444225
|
1.000 |
0.120 |
16 |
2090125 |
frameshift variant |
A/-
|
del
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1555444468
|
1.000 |
0.120 |
16 |
2090336 |
inframe deletion |
TCC/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555454145
|
1.000 |
0.120 |
16 |
2108335 |
stop gained |
C/T
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1555454604
|
1.000 |
0.120 |
16 |
2108968 |
stop gained |
G/A
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs766551411
|
1.000 |
0.120 |
16 |
2090802 |
stop gained |
G/A;C
|
snv
|
4.1E-06;
4.1E-06
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1555454411
|
1.000 |
0.120 |
16 |
2108680 |
stop gained |
G/A
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2001 |
2012 |
rs1555458413
|
0.925 |
0.120 |
16 |
2116010 |
missense variant |
G/A
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs750798165
|
1.000 |
0.120 |
16 |
2116856 |
missense variant |
T/A;C
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2007 |
2012 |