rs1020621286
|
1.000 |
0.120 |
6 |
51772791 |
splice acceptor variant |
T/C;G
|
snv
|
|
7.0E-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 |
|
|
rs1037991711
|
1.000 |
0.120 |
6 |
52069498 |
missense variant |
A/G;T
|
snv
|
4.0E-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 |
rs1057516201
|
1.000 |
0.120 |
6 |
51748665 |
missense variant |
C/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 |
|
|
rs1057516221
|
1.000 |
0.120 |
6 |
51887158 |
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 |
|
|
rs1057516263
|
1.000 |
0.120 |
6 |
52025216 |
frameshift variant |
-/A
|
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 |
2004 |
2004 |
rs1057516283
|
1.000 |
0.120 |
6 |
52033167 |
splice acceptor variant |
T/-
|
del
|
8.0E-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 |
|
|
rs1057516345
|
1.000 |
0.120 |
6 |
51659417 |
stop gained |
G/C
|
snv
|
4.0E-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 |
2 |
2005 |
2015 |
rs1057516382
|
1.000 |
0.120 |
6 |
52025253 |
frameshift variant |
A/-
|
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 |
|
|
rs1057516407
|
1.000 |
0.120 |
6 |
51960028 |
splice acceptor variant |
T/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 |
|
|
rs1057516413
|
1.000 |
0.120 |
6 |
51748142 |
frameshift variant |
-/ATGG
|
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 |
|
|
rs1057516441
|
1.000 |
0.120 |
6 |
51903683 |
stop gained |
G/A;T
|
snv
|
4.0E-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 |
|
|
rs1057516445
|
1.000 |
0.120 |
6 |
51747933 |
stop gained |
G/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 |
2005 |
2005 |
rs1057516490
|
1.000 |
0.120 |
6 |
51847832 |
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 |
|
|
rs1057516562
|
1.000 |
0.120 |
6 |
52044952 |
splice donor variant |
ATTCACTCTCACC/-
|
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 |
|
|
rs1057516577
|
1.000 |
0.120 |
6 |
51747898 |
stop gained |
G/A
|
snv
|
8.0E-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 |
2005 |
2005 |
rs1057516588
|
1.000 |
0.120 |
6 |
51883092 |
splice donor variant |
C/A
|
snv
|
4.0E-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 |
|
|
rs1057516594
|
1.000 |
0.120 |
6 |
52025689 |
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 |
|
|
rs1057516596
|
1.000 |
0.120 |
6 |
51883173 |
frameshift variant |
C/-
|
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 |
|
|
rs1057516607
|
1.000 |
0.120 |
6 |
51855911 |
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 |
|
|
rs1057516608
|
1.000 |
0.120 |
6 |
52050244 |
stop gained |
G/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 |
|
0 |
|
|
rs1057516626
|
1.000 |
0.120 |
6 |
52024987 |
frameshift variant |
TA/-
|
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 |
|
|
rs1057516652
|
1.000 |
0.120 |
6 |
51659300 |
frameshift variant |
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 |
|
|
rs1057516690
|
1.000 |
0.120 |
6 |
51855938 |
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 |
|
|
rs1057516691
|
1.000 |
0.120 |
6 |
52025236 |
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 |
|
|
rs1057516692
|
1.000 |
0.120 |
6 |
52017558 |
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 |
|
|