rs1057518783
|
|
|
16 |
2110081 |
stop gained |
G/A
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057518899
|
|
|
16 |
2111647 |
stop gained |
G/A
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057518959
|
|
|
16 |
2091794 |
missense variant |
A/G
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057518976
|
1.000 |
0.120 |
16 |
2111382 |
missense variant |
T/C
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1286585831
|
1.000 |
0.120 |
16 |
2117844 |
stop gained |
G/A;T
|
snv
|
|
7.0E-06
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555444249
|
1.000 |
0.120 |
16 |
2090140 |
frameshift variant |
T/-
|
del
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555446033
|
1.000 |
0.120 |
16 |
2092144 |
frameshift variant |
C/-
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555448106
|
1.000 |
0.120 |
16 |
2097160 |
frameshift variant |
A/-
|
del
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555450475
|
1.000 |
0.120 |
16 |
2102583 |
frameshift variant |
-/G
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555452400
|
1.000 |
0.120 |
16 |
2105412 |
frameshift variant |
AT/-
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555452653
|
|
|
16 |
2105909 |
frameshift variant |
-/C
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555452876
|
1.000 |
|
16 |
2106222 |
inframe deletion |
CTC/-
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555454847
|
0.882 |
0.240 |
16 |
2109266 |
inframe deletion |
CAC/-
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555454915
|
1.000 |
0.120 |
16 |
2109358 |
frameshift variant |
A/-
|
del
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555459345
|
1.000 |
0.040 |
16 |
2119114 |
missense variant |
A/G
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1567155145
|
|
|
16 |
2092534 |
stop gained |
G/A
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1567159074
|
|
|
16 |
2094014 |
splice acceptor variant |
C/T
|
snv
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1567202189
|
1.000 |
0.080 |
16 |
2111276 |
inframe insertion |
-/GTG
|
ins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs566014072
|
|
|
16 |
2110321 |
stop gained |
C/A;G;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Polycystic Kidney Diseases
|
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
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs777269070
|
|
|
16 |
2090777 |
stop gained |
C/T
|
snv
|
4.1E-06
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs780009030
|
1.000 |
0.120 |
16 |
2097376 |
stop gained |
C/A;T
|
snv
|
4.1E-06
|
1.4E-05
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs886040959
|
1.000 |
0.120 |
16 |
2090962 |
frameshift variant |
AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT
|
delins
|
|
|
Polycystic Kidney Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|