[Retracted] Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

Table 3

Gene mutation characteristics of 6 children with CF.

Case	Location	CFTR mutation site	Amino acid change	Variation type	Parentalgenotype	Genetic mode	Literature reporting
Case 1	Exon 5	c.577 G > A	p.E193X	Nonsense mutation	Father was a carrier	Compound heterozygosity	Reported
	Exon 15	c.2547C > A	p.Y849X	Nonsense mutation	Mother was carrier
Case 2	Exon 23	c.3796_3797dupGA	p.I1267Kfs∗12	Frameshift mutation	Mother was carrier	Heterozygous mutation	Notreported
	Exon 15	Exon15 heterozygous deletion	—	Nonsense mutation	Father was a carrier	Heterozygous deficiency
Case 3	Exon 9	c.1159_1160delTT	p.L387Nfs∗23	Frameshift mutation	Father was a carrier	Heterozygous mutation	Reported
	Exon 14	c.2328dupA	p.V777Sfs∗2	Frameshift mutation	Mother was carrier		Not reported
Case 4	Exon 18	c.2909G > A	p.G970D	Missense mutation	Parents were carriers	Homozygous mutation	Reported
Case 5	Exon 4	c.374T > C	p.I125T	Missense mutation	Mother was carrier	Heterozygous mutation	Reported
	Exon 18	c.2950G > A	p.D984N	Missense mutation	Father was a carrier		Not reported
Case 6	Exon 22	c.3484C > T	p.R1162X	Nonsense mutation	Mother was carrier	Heterozygous variation	Reported
	Exon 18	c.2909G > A	p.G970D	Missense mutation	Father was a carrier
	Exon 22	c.3717 + 45G > A	Splicing	Splice mutation	Mother was carrier