. 2015 Jul 19;9(1):15. doi: 10.1186/s40246-015-0038-y

Table 2.

Randomly selected variants potentially associated with disease within targeted SCA/D genes with less than 20x sequencing depth

Gene	OMIM^a #	Phenotype	Variant	Sequencing depth
COL3A1	120180	Ehlers-Danlos syndrome IV	c.3230G > T	12
CTF1	600435	Cardiomyopathy, dilated	c.274G > A	2
PKP2	602861	Arrhythmogenic right ventricular dysplasia	c.1237C > T	11
SDHA	600857	Complex II deficiency & Dilated cardiomyopathy, 1GG	c.1664G > A	1
TMPO	188380	Cardiomyopathy, dilated	c.2068C > T	13

^aOnline Mendelian Inheritance in Man