Table 2.

Splicing prediction results of IVD gene mutations

Nucleotide change	Affected splicing site	Primary splicing site		Secondary splicing site		% Binding (residual splicing)
		Position relative to natural site	Initial Ri → final Ri (bits)	Position relative to natural site	Ri, Natural – Ri, Mutant (bits)
c.144+1G>T	Intron 1, donor	+1, G → T	11.1 → 3.3	379	6.5 → 6.5	100
c.149G>T (Arg21Leu)	Intron 1, acceptor	149G → T	8.5 → 8.5	9	7.3 → 10.4	887.3
c.457-3_2CA>GG	Intron 4, acceptor	−2, A → G	7.9 → −6.2	229	4.9 → 4.9	100
c.832A>G (Ser249Gly)	Intron 8, donor	832A → G	9.2 → 9.2	−46	0.9 → 3.9	830.7
c.1135T>G (Phe350Val)	Intron 11, donor	1135T → G	4.2 → 3.3			100