Table 1 Top 3 deleterious snv identified by exome sequencing

3

AGTR1

c.502C > T

p.R168*

Renal tubular dysgenesis, #267430

2

COL6A3

c.2782C > T

p.R928C

Bethlem myopathy, #158810

Ullrich congenital muscular dystrophy, #254090

1

NOTCH2

c.4758A > C

p.E1586D

Alagille syndrome 2, #610205