Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Table 2 Summary of the whole exome sequencing of CFTD-LVNC samples

Data	V-1	V-4	V-1 + V-4
Mapped Reads	52,921,718 (89%)	42,081,251 (90%)
SNV	207.784	160,388
dbSNPs	140.798	110,677
coding variants	25.387	24,669
Non synonym. (NS)	13.480	13,089
Frame-Shift	196	182
NS after filter dbSNPs	3923	3784
NS after filter 6 exomes*	2983	2806
Dominant Model			93
Dominant Model + validation**			56
Dominant Model (deleterious)			1
Recessive Model homozygous		46
Recessive Model + validation		10
Recessive Model (deleterious)		1
Recessive Model heterozygous		50
Recessive Model + validation		5
Recessive Model (deleterious)		0

SNV single nucleotide variation; *: non synonymous variants obtained after to filter with six in house genome; Dominant Model: number of gene in which at least one variant is shared between the two samples; Dominant Model + validation**: autosomal variants shared between the two samples and remaining after filtering with 1000 genome database and validated with direct sequencing; Dominant Model (deleterious): variants predicted as deleterious effect of the change with SIFT; Recessive Model: genes in which two alleles are mutated.

ISSN: 1750-1172