Table 2 Randomly selected variants potentially associated with disease within targeted SCA/D genes with less than 20x 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