Mutations causing RBDs
| Deficiency . | Gene . | Missense . | Nonsense . | Splicing . | 5′-3′ UTR . | Deletion/Insertion . | Total . |
|---|---|---|---|---|---|---|---|
| Fibrinogen | FGA | 39 FGA | 18 FGA | 7 FGA | 3 FGA | 38 FGA | |
| FGB | 39 FGB | 7 FGB | 5 FGB | 3 FGB | 8 FGB | ||
| FGG | 67 FGG | 4 FGG | 7 FGG | 1FGG | 7 FGG | 253 | |
| Total = 145 (57.3%) | Total = 29 (11.5%) | Total = 19 (7.5%) | Total = 7 (2.8%) | Total = 53 (20.9%) | |||
| Prothrombin | F2 | 42 (77.8%) | 3 (5.5% | 2 (3.7%) | 0 | 7 (13%) | 54 |
| Factor V | F5 | 64 (48.5%) | 17 (12.9%) | 15 (11.3%) | 0 | 36 (27.3%) | 132 |
| Factor V and Factor VIII | LMAN1 | 3 (8.8%) | 7 (20.6%) | 7 (20.6%) | 0 | 17 (50% | 34 |
| MCFD2 | 11 (50%) | 1 (4.5%) | 4 (18.2%) | 0 | 6 (27.3%) | 22 | |
| Factor VII | F7 | 151 (62.2%) | 19 (7.8%) | 28 (11.5%) | 15 (6.2%) | 30 (12.3%) | 243 |
| Factor X | F10 | 84 (80%) | 2 (1.9%) | 8 (7.6%) | 0 | 11 (10.5%) | 105 |
| Factor XI | F11 | 154 (70%) | 23 (10.5%) | 18 (8.2%) | 2 (1%) | 23 (10.5%) | 220 |
| Factor XIII | F13 | 57 (47.1%) | 11 (9.1%) | 17 (14%) | 1 (1%) | 35 (29%) | 121 |
| Vitamin K–dependent factors | GGCX | 6 (60%) | 0 | 3 (30%) | 0 | 1 (10%) | 10 |
| VKORC1 | 1 (100%) | 0 | 0 | 0 | 0 | 1 |
| Deficiency . | Gene . | Missense . | Nonsense . | Splicing . | 5′-3′ UTR . | Deletion/Insertion . | Total . |
|---|---|---|---|---|---|---|---|
| Fibrinogen | FGA | 39 FGA | 18 FGA | 7 FGA | 3 FGA | 38 FGA | |
| FGB | 39 FGB | 7 FGB | 5 FGB | 3 FGB | 8 FGB | ||
| FGG | 67 FGG | 4 FGG | 7 FGG | 1FGG | 7 FGG | 253 | |
| Total = 145 (57.3%) | Total = 29 (11.5%) | Total = 19 (7.5%) | Total = 7 (2.8%) | Total = 53 (20.9%) | |||
| Prothrombin | F2 | 42 (77.8%) | 3 (5.5% | 2 (3.7%) | 0 | 7 (13%) | 54 |
| Factor V | F5 | 64 (48.5%) | 17 (12.9%) | 15 (11.3%) | 0 | 36 (27.3%) | 132 |
| Factor V and Factor VIII | LMAN1 | 3 (8.8%) | 7 (20.6%) | 7 (20.6%) | 0 | 17 (50% | 34 |
| MCFD2 | 11 (50%) | 1 (4.5%) | 4 (18.2%) | 0 | 6 (27.3%) | 22 | |
| Factor VII | F7 | 151 (62.2%) | 19 (7.8%) | 28 (11.5%) | 15 (6.2%) | 30 (12.3%) | 243 |
| Factor X | F10 | 84 (80%) | 2 (1.9%) | 8 (7.6%) | 0 | 11 (10.5%) | 105 |
| Factor XI | F11 | 154 (70%) | 23 (10.5%) | 18 (8.2%) | 2 (1%) | 23 (10.5%) | 220 |
| Factor XIII | F13 | 57 (47.1%) | 11 (9.1%) | 17 (14%) | 1 (1%) | 35 (29%) | 121 |
| Vitamin K–dependent factors | GGCX | 6 (60%) | 0 | 3 (30%) | 0 | 1 (10%) | 10 |
| VKORC1 | 1 (100%) | 0 | 0 | 0 | 0 | 1 |
Databases (http://www.rbdd.org and http://www.isth.org/?MutationsRareBleedin) accessed May 2013.