Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

BMC Hematology

Table 1 Identified genetic variants passing quality control

Transcript Variant	Protein Variant	Gene Region	Variant Type	Activity	Classification	Impact	CADD Score	dbSNP ID	AFC Freq.	1000 Genomes Freq.
c.6115 + 103 T > C		Intronic	SNV	normal	Benign		< 10	4,074,307	22.442	44.079
c.5998 + 91 T > A		Intronic	SNV	normal	Benign		< 10	4,898,352	22.653	44.132
c.5411_5413delTCT	p.F1804del	Exonic	Deletion	loss	Likely Pathogenic	in-frame	*
c.3780C > G	p.D1260E	Exonic	SNV	gain	Benign	missense	< 10	1,800,291	18.924	25.642
c.1010-27G > A		Intronic	SNV	normal	Benign		< 10	7,058,826	11.328	7.735

Transcript ID NM_000132.3, chromosome X, cytoband q28, gene F8. * CADD score can not be estimated for deletions
Freq frequency, CADD combined annotation dependent depletion

ISSN: 2052-1839