Table IV.

Genetical background of 2 novel MYH7 mutations identified in the study.

	Prediction		Frequency
Mutation	SIFT	PolyPhen-2	1000 Genomes	ExAC_EAS	ESP	Conservation GERP++
MYH7-A934V	0.001 (D)	0.647 (P)	0	0	0	5.33
MYH7-E1387K	0 (D)	1 (D)	0	0	0	4.83

If the SIFT-score is <0.05 (rank score >0.395), then the corresponding nsSNV is predicted as D (Damaging); otherwise it is predicted as T (tolerated). Polyphen2 prediction based on HumDiv: D (probably damaging), HDIV score in [0.957, 1]; P (possibly damaging), HDIV score in [0.453, 0.956] and B (benign), HDIV score in [0, 0.452]. GERP++ RS score: The larger the score, the more conserved the site. Scores range from −12.3 to 6.17. ESP: Frequencies in the database of European and African-American normal.