Antithrombin gene mutation by subtype
|
|
|
Distinct |
Total |
|
I |
|
|
|
|
|
Point mutations |
80 |
101 |
|
|
Partial/whole deletions |
12 |
12 |
|
|
|
|
|
|
II |
|
|
|
|
|
RS |
12 |
55 |
|
|
HBS |
12 |
70 |
|
|
PE |
11 |
18 |
|
|
|
|
|
|
Totals |
|
127 |
256 |
RS : Reactive site mutations
HBS : Heparin binding site mutations
PE : Mutations with pleiotropic effects
