rs104894320
|
1.000 |
0.120 |
12 |
8605404 |
missense variant |
A/G
|
snv
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2000 |
2016 |
rs104894321
|
1.000 |
0.120 |
12 |
8605325 |
missense variant |
A/G
|
snv
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2000 |
2016 |
rs104894322
|
1.000 |
0.120 |
12 |
8605227 |
missense variant |
T/C
|
snv
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2000 |
2016 |
rs104894324
|
0.882 |
0.120 |
12 |
8606951 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2000 |
2016 |
rs104894327
|
1.000 |
0.120 |
12 |
8604898 |
missense variant |
A/G
|
snv
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2000 |
2016 |
rs762590894
|
1.000 |
0.120 |
12 |
8605383 |
missense variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2000 |
2016 |
rs104894323
|
1.000 |
0.120 |
12 |
8604909 |
stop gained |
G/T
|
snv
|
4.2E-06
|
7.7E-06
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs104894325
|
1.000 |
0.120 |
12 |
8605439 |
stop gained |
C/T
|
snv
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057520542
|
1.000 |
0.120 |
12 |
8605308 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs193922703
|
1.000 |
0.120 |
12 |
8605391 |
stop gained |
C/T
|
snv
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs193922704
|
1.000 |
0.120 |
12 |
8605268 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.1E-05
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs387906328
|
1.000 |
0.120 |
12 |
8606981 |
frameshift variant |
GTAAAGAAACTTCCTCCGG/-
|
delins
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs387906329
|
1.000 |
0.120 |
12 |
8605457 |
inframe deletion |
GGAAGAGCA/-
|
delins
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs200858797
|
1.000 |
0.120 |
12 |
8605226 |
missense variant |
A/G
|
snv
|
1.6E-04
|
1.9E-04
|
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |