rs1057517398
|
1.000 |
0.160 |
9 |
37424977 |
splice donor variant |
T/G
|
snv
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs111256477
|
1.000 |
0.160 |
9 |
37429837 |
splice donor variant |
G/C;T
|
snv
|
8.0E-06;
4.0E-06;
4.0E-06
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs119490108
|
0.925 |
0.160 |
9 |
37426545 |
stop gained |
C/T
|
snv
|
|
1.4E-05
|
Primary Hyperoxaluria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs119490108
|
0.925 |
0.160 |
9 |
37426545 |
stop gained |
C/T
|
snv
|
|
1.4E-05
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1244822375
|
1.000 |
0.160 |
9 |
37424976 |
splice donor variant |
G/C;T
|
snv
|
4.0E-06
|
7.0E-06
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1257080057
|
1.000 |
0.160 |
9 |
37432006 |
splice acceptor variant |
A/-
|
del
|
|
7.0E-06
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1422977131
|
1.000 |
0.160 |
9 |
37430510 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554746094
|
1.000 |
0.160 |
9 |
37422751 |
start lost |
A/G;T
|
snv
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554746097
|
1.000 |
0.160 |
9 |
37422752 |
start lost |
T/G
|
snv
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554746565
|
1.000 |
0.160 |
9 |
37424948 |
frameshift variant |
TG/-
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554746793
|
1.000 |
0.160 |
9 |
37425920 |
splice acceptor variant |
AG/-
|
del
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554746962
|
1.000 |
0.160 |
9 |
37426600 |
frameshift variant |
-/TACTTACCACCTGC
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554747871
|
1.000 |
0.160 |
9 |
37429733 |
frameshift variant |
C/-
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554747933
|
1.000 |
0.160 |
9 |
37429836 |
splice donor variant |
G/-
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554748528
|
1.000 |
0.160 |
9 |
37432054 |
frameshift variant |
GG/TAC
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554748534
|
1.000 |
0.160 |
9 |
37432055 |
frameshift variant |
-/T
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554748574
|
1.000 |
0.160 |
9 |
37432121 |
frameshift variant |
-/G
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554748598
|
1.000 |
0.160 |
9 |
37432136 |
frameshift variant |
G/-
|
del
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1564300888
|
1.000 |
0.160 |
9 |
37430527 |
frameshift variant |
CTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGG/-
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs180177305
|
1.000 |
0.160 |
9 |
37424964 |
missense variant |
T/C
|
snv
|
8.1E-06
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs180177308
|
1.000 |
0.160 |
9 |
37426624 |
frameshift variant |
G/-
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs180177311
|
1.000 |
0.160 |
9 |
37422795 |
frameshift variant |
A/-
|
del
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs180177312
|
1.000 |
0.160 |
9 |
37428557 |
missense variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs180177314
|
0.925 |
0.160 |
9 |
37429732 |
missense variant |
G/A
|
snv
|
1.2E-04
|
4.2E-05
|
Primary Hyperoxaluria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs180177315
|
1.000 |
0.160 |
9 |
37429776 |
frameshift variant |
T/-
|
delins
|
|
|
Primary hyperoxaluria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|