Variants identified in the CFD population
| Gene . | cDNA . | Mature chain . | Exon . | Intron . | Type of variant . | Observed genotype . | Patients (probands/relatives) . | Classification . | Bleeding/thrombosis . | Grade of severity . | Novelty . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| FGA | c.95G>A | p.Gly32Glu | 2 | Missense | Hetero | 3 (2/1) | Dysfibrinogenemia | 3/0 | 0 | - | |
| FGA | c.103C>T | p.Arg35Cys | 2 | Missense | Hetero | 1 (1/0) | Dysfibrinogenemia | 0/0 | 0 | - | |
| FGA | c.104G>A | p.Arg35His | 2 | Missense | Hetero | 6 (5/1) | Dysfibrinogenemia | 3/0 | 0, 1, 2 | - | |
| FGA | c.112A>G | p.Arg38Gly | 2 | Missense | Hetero | 6 (3/3) | Dysfibrinogenemia | 6/0 | 0, 1, 2 | - | |
| FGA | c.114G>C | p.Arg38Ser | 2 | Missense | Hetero | 1 (1/0) | Dysfibrinogenemia | 1/0 | 2 | - | |
| FGA | c.163T>C | p.Cys55Arg | 2 | Missense | Hetero | 1 (1/0) | Hypodysfibrinogenemia | 0/0 | 0 | - | |
| FGA | c.180+1G>C | - | 2 | Splice site | Hetero | 4 (1/3) | Hypofibrinogenemia/hypodysfibrinogenemia | 3/1 | 0, 1 | - | |
| FGA | c.196delT | p.Ser66LeufsTer5 | 3 | Frameshift | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.385C>T | p.Arg129Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.434T>A | p.Val145Asp | 4 | Missense | Hetero | 5 (1/4) | Hypofibrinogenemia | 5/0 | 1, 2 | - | |
| FGA | c.448C>T | p.Gln150Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.502C>T | p.Arg168Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.510+1G>T | - | 4 | Splice site | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.532C>T | p.Arg178Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.533_534insT | p.Ser179IlefsTer8 | 5 | Frameshift | Homo | 2 (1/1) | Afibrinogenemia | 2/1 | 2, 3 | - | |
| FGA | c.598C>T | p.Gln200Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.711dupT | p.Lys238Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.743G>A | p.Trp248Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.934delA | p.Ser312AlafsTer109 | 5 | Frameshift | Homo | 4 (2/2) | Afibrinogenemia | 4/0 | 2, 3 | - | |
| FGA | c.945delT | p.Gly316GlufsTer105 | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.1001G>A | p.Trp334Ter | 4 | Nonsense | Homo | 3 (2/1) | Hypofibrinogenemia | 3/0 | 1, 3 | - | |
| FGA | c.1410dupT | p.Gly471TrpfsTer3 | 5 | Frameshift | Hetero | 3 (2/1) | Dysfibrinogenemia | 3/0 | 0, 2 | - | |
| FGA | c.1417G>A∗ | p.Asp473Asn | 5 | Missense | Compound hetero with c.1244+1G>T | 1 (1/0) | Hypofibrinogenemia | 0/1 | 0 | - | |
| FGB | c.115-610G>C | - | 1 | Deep intronic | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | ✓ | |
| FGB | c.139C>T | p.Arg47Ter | 2 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGB | c.490G>A | p.Asp164Asn | 3 | Missense | Hetero | 2 (1/1) | Hypofibrinogenemia | 2/1 | 1, 2 | - | |
| FGB | c.1067A>G | p.Tyr356Cys | 7 | Missense | Homo | 2 (1/1) | Afibrinogenemia | 2/0 | 3 | - | |
| FGB | c.1148T>G | p.Leu383Arg | 7 | Missense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGB | c.1244+1G>T∗ | - | 7 | Splice site | Compound hetero with c.1417G>A, Hetero | 2 (2/0) | Hypofibrinogenemia | 0/1 | 0 | - | |
| FGG | c.123+1G>A | - | 2 | Splice site | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 2 | - | |
| FGG | c.323C>G | p.Ala108Gly | 4 | Missense | Hetero | 1 (1/0) | Hypofibrinogenemia | 0/0 | 0 | - | |
| FGG | c.400C>T | p.Arg134Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGG | c.425C>A | p.Ser142Ter | 5 | Nonsense | Hetero | 1 (1/0) | Hypofibrinogenemia | 0/0 | 0 | ✓ | |
| FGG | c.571G>A | p.Gly191Arg | 6 | Missense | Hetero | 2 (1/1) | Hypofibrinogenemia | 2/0 | 1 | - | |
| FGG | c.901C>T | p.Arg301Cys | 8 | Missense | Hetero | 10 (5/5) | Dysfibrinogenemia | 6/2 | 0, 1, 2, 3 | - | |
| FGG | c.902G>A | p.Arg301His | 8 | Missense | Hetero | 3 (2/1) | Dysfibrinogenemia | 3/0 | 1, 2 | - | |
| FGG | c.998A>G | p.His333Arg | 8 | Missense | Hetero | 2 (1/1) | Hypofibrinogenemia | 0/0 | 1 | - | |
| FGG | c.1024G>A | p.Asp342Asn | 8 | Missense | Hetero | 3 (2/1) | Dysfibrinogenemia/hypofibrinogenemia | 2/0 | 0, 2 | - | |
| FGG | c.1036G>C | p.Asp346His | 8 | Missense | Hetero | 1 (1/0) | Hypodysfibrinogenemia | 1/0 | 1 | ✓ | |
| FGG | c.1151C>G | p.Ser384Cys | 9 | Missense | Hetero | 5 (2/3) | Dysfibrinogenemia | 3/0 | 0, 1, 2 | - | |
| FGG | c.1201C>T | p.Arg401Trp | 9 | Missense | Hetero | 2 (2/0) | Hypofibrinogenemia | 1/0 | 0, 1 | - |
| Gene . | cDNA . | Mature chain . | Exon . | Intron . | Type of variant . | Observed genotype . | Patients (probands/relatives) . | Classification . | Bleeding/thrombosis . | Grade of severity . | Novelty . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| FGA | c.95G>A | p.Gly32Glu | 2 | Missense | Hetero | 3 (2/1) | Dysfibrinogenemia | 3/0 | 0 | - | |
| FGA | c.103C>T | p.Arg35Cys | 2 | Missense | Hetero | 1 (1/0) | Dysfibrinogenemia | 0/0 | 0 | - | |
| FGA | c.104G>A | p.Arg35His | 2 | Missense | Hetero | 6 (5/1) | Dysfibrinogenemia | 3/0 | 0, 1, 2 | - | |
| FGA | c.112A>G | p.Arg38Gly | 2 | Missense | Hetero | 6 (3/3) | Dysfibrinogenemia | 6/0 | 0, 1, 2 | - | |
| FGA | c.114G>C | p.Arg38Ser | 2 | Missense | Hetero | 1 (1/0) | Dysfibrinogenemia | 1/0 | 2 | - | |
| FGA | c.163T>C | p.Cys55Arg | 2 | Missense | Hetero | 1 (1/0) | Hypodysfibrinogenemia | 0/0 | 0 | - | |
| FGA | c.180+1G>C | - | 2 | Splice site | Hetero | 4 (1/3) | Hypofibrinogenemia/hypodysfibrinogenemia | 3/1 | 0, 1 | - | |
| FGA | c.196delT | p.Ser66LeufsTer5 | 3 | Frameshift | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.385C>T | p.Arg129Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.434T>A | p.Val145Asp | 4 | Missense | Hetero | 5 (1/4) | Hypofibrinogenemia | 5/0 | 1, 2 | - | |
| FGA | c.448C>T | p.Gln150Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.502C>T | p.Arg168Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.510+1G>T | - | 4 | Splice site | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.532C>T | p.Arg178Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.533_534insT | p.Ser179IlefsTer8 | 5 | Frameshift | Homo | 2 (1/1) | Afibrinogenemia | 2/1 | 2, 3 | - | |
| FGA | c.598C>T | p.Gln200Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.711dupT | p.Lys238Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.743G>A | p.Trp248Ter | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.934delA | p.Ser312AlafsTer109 | 5 | Frameshift | Homo | 4 (2/2) | Afibrinogenemia | 4/0 | 2, 3 | - | |
| FGA | c.945delT | p.Gly316GlufsTer105 | 5 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGA | c.1001G>A | p.Trp334Ter | 4 | Nonsense | Homo | 3 (2/1) | Hypofibrinogenemia | 3/0 | 1, 3 | - | |
| FGA | c.1410dupT | p.Gly471TrpfsTer3 | 5 | Frameshift | Hetero | 3 (2/1) | Dysfibrinogenemia | 3/0 | 0, 2 | - | |
| FGA | c.1417G>A∗ | p.Asp473Asn | 5 | Missense | Compound hetero with c.1244+1G>T | 1 (1/0) | Hypofibrinogenemia | 0/1 | 0 | - | |
| FGB | c.115-610G>C | - | 1 | Deep intronic | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | ✓ | |
| FGB | c.139C>T | p.Arg47Ter | 2 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGB | c.490G>A | p.Asp164Asn | 3 | Missense | Hetero | 2 (1/1) | Hypofibrinogenemia | 2/1 | 1, 2 | - | |
| FGB | c.1067A>G | p.Tyr356Cys | 7 | Missense | Homo | 2 (1/1) | Afibrinogenemia | 2/0 | 3 | - | |
| FGB | c.1148T>G | p.Leu383Arg | 7 | Missense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGB | c.1244+1G>T∗ | - | 7 | Splice site | Compound hetero with c.1417G>A, Hetero | 2 (2/0) | Hypofibrinogenemia | 0/1 | 0 | - | |
| FGG | c.123+1G>A | - | 2 | Splice site | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 2 | - | |
| FGG | c.323C>G | p.Ala108Gly | 4 | Missense | Hetero | 1 (1/0) | Hypofibrinogenemia | 0/0 | 0 | - | |
| FGG | c.400C>T | p.Arg134Ter | 4 | Nonsense | Homo | 1 (1/0) | Afibrinogenemia | 1/0 | 3 | - | |
| FGG | c.425C>A | p.Ser142Ter | 5 | Nonsense | Hetero | 1 (1/0) | Hypofibrinogenemia | 0/0 | 0 | ✓ | |
| FGG | c.571G>A | p.Gly191Arg | 6 | Missense | Hetero | 2 (1/1) | Hypofibrinogenemia | 2/0 | 1 | - | |
| FGG | c.901C>T | p.Arg301Cys | 8 | Missense | Hetero | 10 (5/5) | Dysfibrinogenemia | 6/2 | 0, 1, 2, 3 | - | |
| FGG | c.902G>A | p.Arg301His | 8 | Missense | Hetero | 3 (2/1) | Dysfibrinogenemia | 3/0 | 1, 2 | - | |
| FGG | c.998A>G | p.His333Arg | 8 | Missense | Hetero | 2 (1/1) | Hypofibrinogenemia | 0/0 | 1 | - | |
| FGG | c.1024G>A | p.Asp342Asn | 8 | Missense | Hetero | 3 (2/1) | Dysfibrinogenemia/hypofibrinogenemia | 2/0 | 0, 2 | - | |
| FGG | c.1036G>C | p.Asp346His | 8 | Missense | Hetero | 1 (1/0) | Hypodysfibrinogenemia | 1/0 | 1 | ✓ | |
| FGG | c.1151C>G | p.Ser384Cys | 9 | Missense | Hetero | 5 (2/3) | Dysfibrinogenemia | 3/0 | 0, 1, 2 | - | |
| FGG | c.1201C>T | p.Arg401Trp | 9 | Missense | Hetero | 2 (2/0) | Hypofibrinogenemia | 1/0 | 0, 1 | - |
Compound variants.