rs1057517204
|
1.000 |
0.080 |
4 |
186285637 |
splice acceptor variant |
G/A
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs786204724
|
1.000 |
0.080 |
4 |
186285646 |
stop gained |
C/A
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs757530565
|
1.000 |
0.080 |
4 |
186285655 |
frameshift variant |
T/-
|
delins
|
5.2E-05
|
7.0E-06
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1554083727
|
1.000 |
0.080 |
4 |
186285662 |
frameshift variant |
T/-
|
del
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1554083734
|
1.000 |
0.080 |
4 |
186285693 |
frameshift variant |
AAAAGAGGACACAT/-
|
delins
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs281875241
|
1.000 |
0.080 |
4 |
186285694 |
missense variant |
T/A
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1989 |
2015 |
rs1554083736
|
1.000 |
0.080 |
4 |
186285708 |
frameshift variant |
CTTT/-
|
delins
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121965065
|
1.000 |
0.080 |
4 |
186285711 |
missense variant |
T/G
|
snv
|
4.0E-06
|
1.4E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs1057517035
|
1.000 |
0.080 |
4 |
186285723 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs542967227
|
1.000 |
0.080 |
4 |
186285765 |
missense variant |
G/A
|
snv
|
1.0E-04
|
2.1E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2003 |
2019 |
rs281875242
|
1.000 |
0.080 |
4 |
186285775 |
missense variant |
T/G
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
21 |
1989 |
2015 |
rs1554083753
|
1.000 |
0.080 |
4 |
186285803 |
frameshift variant |
-/A
|
delins
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1554083754
|
1.000 |
0.080 |
4 |
186285811 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
25 |
1989 |
2015 |
rs1554083758
|
1.000 |
0.080 |
4 |
186285815 |
splice donor variant |
T/C
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057516506
|
1.000 |
0.080 |
4 |
186286414 |
splice acceptor variant |
G/C;T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs375422404
|
1.000 |
0.080 |
4 |
186286423 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.8E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs761254473
|
0.925 |
0.080 |
4 |
186286434 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs140068026
|
1.000 |
0.080 |
4 |
186286441 |
missense variant |
T/A;C;G
|
snv
|
2.8E-05;
4.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1989 |
2015 |
rs281875258
|
1.000 |
0.080 |
4 |
186286451 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1989 |
2015 |
rs281875278
|
1.000 |
0.080 |
4 |
186286465 |
missense variant |
T/C
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1989 |
2015 |
rs281875249
|
1.000 |
0.080 |
4 |
186286475 |
missense variant |
G/T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
20 |
1989 |
2015 |
rs200622588
|
0.925 |
0.080 |
4 |
186286480 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1057516777
|
1.000 |
0.080 |
4 |
186286489 |
frameshift variant |
-/G
|
delins
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2003 |
2008 |
rs201007090
|
1.000 |
0.080 |
4 |
186286490 |
stop gained |
G/A;C
|
snv
|
3.2E-05
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2000 |
2014 |
rs1334907475
|
0.925 |
0.080 |
4 |
186286491 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |