. 2017 Dec 14;18(12):2711. doi: 10.3390/ijms18122711

Table 4.

Most frequent mutations causing recessively-inherited fibrinogen deficiencies by ethnicity and gene.

Gene	Population	RefSeqID	Genomic Position on Chr 4 ¹	Type of Mutation	Consequence ²	% of All Mutated Alleles in the Population ³	Allele Freq in gnomAD Database
FGA	Admixed Americans	rs773619297	155,506,927	frameshift	p.Gly552AlafsTer16	24.4	0.00029
	Admixed Americans	rs748106542	155,508,067	missense	p.Asp172Asn	29.3	0.00036
	Europeans (not Finnish)	rs773619297	155,506,927	frameshift	p.Gly552AlafsTer16	11.9	0.000063
	Europeans (not Finnish)	rs146387238	155,508,663	splice donor	c.510+1G>T *	17.9	0.000094
FGB	Admixed Americans	rs774502903	155,487,641	missense	p.Gly103Arg	41.0	0.00047
	Europeans (not Finnish)	rs370703973	155,489,611	missense	p.Tyr266Cys *	51.1	0.00055
	Europeans (not Finnish)	rs777451745	155,490,421	missense	p.Ala307Val *	10.2	0.00011
	South Asians	rs762523152	155,490,854	missense	p.Leu383Val	26.1	0.00019
	South Asians	rs765571602	155,491,770	missense	p.Met482Val	34.8	0.00026
FGG	Africans and African Americans	rs145051028	155,529,735	missense	p.Ser245Phe	54.7	0.0015
	Africans and African Americans	rs148685782	155,533,035	missense	p.Ala108Gly *	28.1	0.00075
	Admixed Americans	rs776288074	155,530,871	missense	p.Tyr193His	35.7	0.00058
		rs148685782	155,533,035	missense	p.Ala108Gly *	19.6	0.00032
		rs138511699	155,533,337	missense	p.Thr47Ile *	23.2	0.00038
	Ashkenazi Jewish	rs148685782	155,533,035	missense	p.Ala108Gly *	100	0.0013
	Finnish	rs148685782	155,533,035	missense	p.Ala108Gly *	72.5	0.0011
	Finnish	rs138511699	155,533,337	missense	p.Thr47Ile *	27.5	0.00043
	Europeans (not Finnish)	rs148685782	155,533,035	missense	p.Ala108Gly *	75.0	0.0036
	Europeans (not Finnish)	rs138511699	155,533,337	missense	p.Thr47Ile *	15.0	0.00074
	South Asians	rs148685782	155,533,035	missense	p.Ala108Gly *	27.9	0.00039
	South Asians	rs138511699	155,533,337	missense	p.Thr47Ile *	46.5	0.00066

¹ Numbering according to UCSC Genome Browser, human, February 2009 (GRCh37/hg19) assembly. ² The consequences on the native-protein numbering are reported. Mutations reported in fibrinogen-related databases (Human Fibrinogen Database, HGMD, ExPASy, ClinVar) are indicated with an asterisk. ³ Frequencies relative to the corresponding gene. The highly-recurrent FGG p.Ala108Gly and FGG p.Thr47Ile mutations are respectively depicted in bold and underlined.