Table 2.

Informative variants in ABCA3

Variant ID		Child	Mother	Father
ABCA3 infant 1
rs323017	c.2514-93 A>G (Intron 19)	G/G	A/A	A/G
rs313908	c.2701-33 C>G (Intron 20)	G/G	C/C	C/G
Mutation	c.2741A>G (p.K914R)	G/G	A/A	A/G
rs313909	c.3004+34 C>T (Intron 21)	C/C	T/T	C/T
rs1183064	c.3704-116 A>T (Intron 24)	T/T	A/A	A/T
ABCA3 infant 2
N/A	(c.-27 + 126 G>A (Intron 3)	A/A	G/G	A/G
Mutation	c.440C>T (p.P147L)	T/T	C/C	C/T
rs170447	c.1741+33 G>A (Intron 14)	A/A	A/G	A/G
rs2240523	c.1742-116 C>T (Intron 14)	C/C	C/T	C/T
ABCA3 infant 3
Mutation	c.806_807insGCT	ins/ins	normal/normal	ins/normal