Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing

Table 1

All variants identified in KC patients in the present study.

Gene	Nucleotide change	Amino acid change	SNP ID	Frequency (1KG project)	Gene region	Mutation effect	SIFT score	PolyPhen V2 score	MutationTaster
NFIB	c.196C > G	p.P66A	rs140030018	0.00219649	Exonic	Nonsynonymous	0.14	0.999
LIG3	c.1626G > T	p.K542N			Exonic	Nonsynonymous	0.06	0.573
XRCC1	c.1141G > A	p.V381M	rs2271980		Exonic	Nonsynonymous	0	0.977
TF	c.521C > T	p.S174L	rs150679929	0.00159744	Exonic	Nonsynonymous	0.03	0.678
ZEB1	c.2998G > C	p.E1000Q			Exonic	Nonsynonymous	0.08	0.293
NEIL1	c.833C > T	p.T278I	rs142213781	0.000599042	Exonic	Nonsynonymous	0	0.998
FNDC3B	c.455C > T	p.P152L			Exonic	Nonsynonymous	0	0.963	1
FNDC3B	c.1438G > A	p.A480T	rs201974179	0.000599042	Exonic	Nonsynonymous	0.15	0.17
COL4A4	c.3636_3637	del:p.R1212fs			Exonic	Frameshift deletion
MPDZ	c.5015G > T	p.R1672L			Exonic	Nonsynonymous	0
MPDZ	c.3798dupA	p.P1267fs			Exonic	Frameshift insertion
MPDZ	c.394G > A	p.G132S	rs201101621	0.000399361	Exonic	Nonsynonymous	0.03
MPDZ	c.28G > A	p.A10T			Exonic	Nonsynonymous	0.05
DOCK9	c.1940C > T	p.P647L			Exonic	Nonsynonymous	0
TGFBI	c.624 + 7− > A				Splicing
PARP1	c.2440A > G	p.I814V	rs200630156	0.000798722	Exonic	Nonsynonymous	0.21	0.151
PARP1	c.114G > A	p.M38I			Exonic	Nonsynonymous	0.09	0.646
PARP1	c.14C > G	p.S5W	rs201256399	0.00119808	Exonic	Nonsynonymous	0	0.299
POLG	c.3139C > T	p.R1047W	rs181860632	0.000399361	Exonic	Nonsynonymous	0.02	1
POLG	c.2890C > T	p.R964C	rs201477273	0.00299521	Exonic	Nonsynonymous	0	1
POLG	c.127_128insGGC	p.Q43delinsRQ			Exonic	Frameshift insertion
IPO5	c.3019G > A	p.V1007I			Exonic	Nonsynonymous	0.03	0.006	0.994
FASLG	c.280T > G	p.L94V	rs56302117	0.00259585	Exonic	Nonsynonymous	0	0.778
IL1B	c.275C > T	p.T92I	rs200401035	0.000199681	Exonic	Nonsynonymous	0.01	0.766