Table 1.

Molecular defects in NCF4 documented until date.

Nucleotide change	Type of mutation	Amino acid or mRNA change	References
c.143_152dup10	Insertion	p.Lys52ArgfsX79	46
c.314G > A	Missense	p.Arg105Gln	46
c.118-1G > A	Essential splice	–	47
c.32+2T > G	Essential splice	–	47
c.314G > A	Missense	p.R105Q	47
c.172C > T	Missense	p.R58C	47
c.430C > A	Missense	p.P144T	47
c.716G > A	Nonsense	p.W239X	47
c.120_134del	In-frame deletion	–	47
c.118-1G > A	compound heterozygous splice-site variants	–	47
c.759-1G > C	compound heterozygous splice-site variants	–	47