Table 1 Genotypic expression of mutations in fibrinogen gene (FGA, FGB & FGG)

C1

FGA

c.24C > A

p.Cys8*

Homozygous

Nonsense

Ref #23 ^€

C2

c.143_144 del AA

p.Lys (AAA)48Arg fs9*

Compound Heterozygous

Frame shift

Novel mutation

C3

c.846delG

p.Thr 283Arg fs138*

Compound Heterozygous

Frame shift

Novel mutation

c.385C > T

p.Arg129*

Homozygous

Nonsense

Ref #24 ^€

C4

c.385 C > T

p.Arg129*

Homozygous

Nonsense

Ref #24 ^€

C5

c.598C > T

p.Gln200*

Homozygous

Nonsense

Ref 27*

C6

c.904C > G

p.Pro302Ala

Homozygous

Missense

Novel mutation

C7

c.913A > G

p.Thr 305 Ala

Homozygous

Missense

Novel mutation

C8

c.992A > G

p.Thr331Ala

Homozygous

Missense

Novel mutation

C9ⁱ

c.992A > G

p.Thr331Ala

Homozygous

Missense

Novel mutation

C10

c.973A > G

p.Ser325Gly

Homozygous

Missense

Novel mutation

C11A

FGB

c.141 > T

p.Arg47*

Homozygous

Nonsense

Ref # 25 ^€

C11B

c.141C > T

p.Arg47*

Homozygous

Nonsense

Ref # 25 ^€

C9 ⁱⁱ

c.1294T > A

p.Trp 432Arg

Homozygous

Missense

Novel mutation

C12

c.118_124dupTTCTTCA

TTCTTCA

Homozygous

Frame shift

Novel mutation

C13A

FGG

c.361A > T

p.Lys121*

Homozygous

Nonsense

Novel mutation

C13B

c.361A > T

Lys121*

Homozygous

Nonsense

Novel mutation