List of mutations
| cDNA . | Gene . | Exon . | Nascent chain . | Mature chain . | Total patients . | Propositus . | Relatives . | Family* . | Thrombosis . | Bleeding phenotype/major bleeding . |
|---|---|---|---|---|---|---|---|---|---|---|
| c.92C>T | FGA | 2 | Gly31Val | Gly12Val | 1 | 1 | 0 | 0 | 0 | 1/0 |
| c.103C>T | FGA | 2 | Arg35Cys | Arg16Cys | 9 | 7 | 2 | 1 | 2 | 5/1 |
| c.103C>A | FGA | 2 | Arg35Ser | Arg16Ser | 1 | 1 | 0 | 0 | 0 | 1/0 |
| c.104G>A | FGA | 2 | Arg35His | Arg16His | 14 | 11 | 3 | 1 | 3 | 6/1 |
| c.107G>A | FGA | 2 | Gly36Asp | Gly17Asp | 2 | 1 | 1 | 1 | 0 | 2/0 |
| c.112A>G | FGA | 2 | Arg38Gly | Arg19Gly | 4 | 2 | 2 | 2 | 2 | 1/0 |
| c.550T>C | FGA | 5 | Cys184Arg | Cys165Arg | 1 | 1 | 0 | 0 | 1 | 1/1 |
| c.1410_1411insT | FGA | 5 | Gly471Trpfs | Gly452Trpfs | 1 | 1 | 0 | 0 | 0 | 1/1 |
| c.1482-1495del | FGA | 5 | Met495Hisfs | Met476Hisfs | 1 | 1 | 0 | 0 | 1 | 0/0 |
| c.1717G>C | FGA | 5 | Arg573Cys | Arg554Cys | 1 | 1 | 0 | 0 | 0 | 0/0 |
| c.130C>T | FGB | 2 | Arg44Cys | Arg14Cys | 1 | 1 | 0 | 0 | 1 | 0/0 |
| c.586C>T | FGB | 4 | Arg196Cys | Arg166Cys | 1 | 1 | 0 | 0 | 0 | 1/0 |
| c.620A>G | FGG | 6 | Tyr207Cys | Tyr181Cys | 3 | 1 | 2 | 1 | 1 | 2/2 |
| c.837G>C | FGG | 7 | Trp279Cys | Trp253Cys | 1 | 1 | 0 | 0 | 1 | 0/0 |
| c.902G>A | FGG | 8 | Arg301His | Arg275His | 19 | 11 | 8 | 4 | 5 | 7/2 |
| c.902G>C | FGG | 8 | Arg301Cys | Arg275Cys | 33 | 20 | 13 | 8 | 9 | 14/5 |
| c.917A>G | FGG | 8 | Tyr306Cys | Tyr280Cys | 2 | 2 | 0 | 2 | 1 | 0/0 |
| c.1067A>T | FGG | 8 | Asp356Val | Asp330Val | 3 | 1 | 2 | 1 | 0 | 3/0 |
| c.1073C>G | FGG | 8 | Ser358Cys | Ser332Cys | 2 | 1 | 1 | 1 | 1 | 2/0 |
| c.1173T>A | FGG | 9 | Asn391Lys | Asn365Lys | 1 | 1 | 0 | 0 | 0 | 1/0 |
| cDNA . | Gene . | Exon . | Nascent chain . | Mature chain . | Total patients . | Propositus . | Relatives . | Family* . | Thrombosis . | Bleeding phenotype/major bleeding . |
|---|---|---|---|---|---|---|---|---|---|---|
| c.92C>T | FGA | 2 | Gly31Val | Gly12Val | 1 | 1 | 0 | 0 | 0 | 1/0 |
| c.103C>T | FGA | 2 | Arg35Cys | Arg16Cys | 9 | 7 | 2 | 1 | 2 | 5/1 |
| c.103C>A | FGA | 2 | Arg35Ser | Arg16Ser | 1 | 1 | 0 | 0 | 0 | 1/0 |
| c.104G>A | FGA | 2 | Arg35His | Arg16His | 14 | 11 | 3 | 1 | 3 | 6/1 |
| c.107G>A | FGA | 2 | Gly36Asp | Gly17Asp | 2 | 1 | 1 | 1 | 0 | 2/0 |
| c.112A>G | FGA | 2 | Arg38Gly | Arg19Gly | 4 | 2 | 2 | 2 | 2 | 1/0 |
| c.550T>C | FGA | 5 | Cys184Arg | Cys165Arg | 1 | 1 | 0 | 0 | 1 | 1/1 |
| c.1410_1411insT | FGA | 5 | Gly471Trpfs | Gly452Trpfs | 1 | 1 | 0 | 0 | 0 | 1/1 |
| c.1482-1495del | FGA | 5 | Met495Hisfs | Met476Hisfs | 1 | 1 | 0 | 0 | 1 | 0/0 |
| c.1717G>C | FGA | 5 | Arg573Cys | Arg554Cys | 1 | 1 | 0 | 0 | 0 | 0/0 |
| c.130C>T | FGB | 2 | Arg44Cys | Arg14Cys | 1 | 1 | 0 | 0 | 1 | 0/0 |
| c.586C>T | FGB | 4 | Arg196Cys | Arg166Cys | 1 | 1 | 0 | 0 | 0 | 1/0 |
| c.620A>G | FGG | 6 | Tyr207Cys | Tyr181Cys | 3 | 1 | 2 | 1 | 1 | 2/2 |
| c.837G>C | FGG | 7 | Trp279Cys | Trp253Cys | 1 | 1 | 0 | 0 | 1 | 0/0 |
| c.902G>A | FGG | 8 | Arg301His | Arg275His | 19 | 11 | 8 | 4 | 5 | 7/2 |
| c.902G>C | FGG | 8 | Arg301Cys | Arg275Cys | 33 | 20 | 13 | 8 | 9 | 14/5 |
| c.917A>G | FGG | 8 | Tyr306Cys | Tyr280Cys | 2 | 2 | 0 | 2 | 1 | 0/0 |
| c.1067A>T | FGG | 8 | Asp356Val | Asp330Val | 3 | 1 | 2 | 1 | 0 | 3/0 |
| c.1073C>G | FGG | 8 | Ser358Cys | Ser332Cys | 2 | 1 | 1 | 1 | 1 | 2/0 |
| c.1173T>A | FGG | 9 | Asn391Lys | Asn365Lys | 1 | 1 | 0 | 0 | 0 | 1/0 |
Previously unreported mutations are indicated in bold.
cDNA, complementary DNA.
Family with 1 or more relatives.