First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Table 1

The candidate-gene list of all the genes with compound heterozygous mutations, which were detected by Exome sequencing.

Chromosome	Position	Reference	Gene name	Detailed information for case m0957	MutType
chr16	2376053	C	ABCA3	Y99T13C6,0000,missense	SNP
chr16	2376215	G	ABCA3	S99C21G16,0000,missense	SNP
chr7	2969678	G	CARD11	K99G13T12,0000,missense	SNP
chr7	2969679	C	CARD11	Y99C12T11,0000,missense	SNP
chr17	3558396	G	CTNS	−1G;Het;7/17;—,—,—,—;splice-site	Indel
chr17	3559780	GT	CTNS	−2GT;Het;17/37;—,—,—,—;splice-site	Indel
chr6	65596690	T	EYS	K99G38T36,0000,missense	SNP
chr6	65596696	G	EYS	S99G37C37,0000,missense	SNP
chr1	89597644	C	GBP7	M21C4A2,0000,3-UTR	SNP
chr1	89614981	C	GBP7	M99A34C29,0000,missense	SNP
chr2	121555032	G	GLI2	R99G17A14,0000,missense	SNP
chr2	121745815	G	GLI2	R20G5A2,0000,3-UTR	SNP
chr5	63256212	G	HTR1A	R99G15A14,0000,3-UTR	SNP
chr5	63256702	C	HTR1A	Y99T11C6,0000,missense	SNP
chr4	6577044	A	MAN2B2	R57A3G3,0000,missense	SNP
chr4	6621751	C	MAN2B2	Y99T20C19,0000,missense	SNP
chr7	100642828	C	MUC12	Y62C10T4,0000,missense	SNP
chr7	100647142	G	MUC12	R99G73A49,0000,missense	SNP
chr3	108220603	C	MYH15	Y99C13T13,0000,missense	SNP
chr3	108224685	—	MYH15	+1A;Het;10/22;−1,—,—,—;splice-site	Indel
chr11	48510472	T	OR4A47	Y99T28C13,0000,missense	SNP
chr11	48510952	T	OR4A47	K99G18T12,0000,missense	SNP
chr5	140700	G	PLEKHG4B	R99A6G6,0000,missense	SNP
chr5	169624	G	PLEKHG4B	R99G19A16,0000,missense	SNP
chr8	27295302	G	PTK2B	S99C19G18,0000,NR_exon	SNP
chr8	27300416	C	PTK2B	M99C16A15,0000,missense	SNP
chr6	167592605	T	TCP10L2	K99T39G8,0000,missense	SNP
chr6	167592606	T	TCP10L2	W99T39A8,0000,missense	SNP
chr19	54665989	C	TMC4	Y99C11T11,0000,missense	SNP
chr19	54666990	G	TMC4	R48G8A3,0000,NR_exon	SNP
chr8	30612299	C	UBXN8	Y99C31T18,0000,missense	SNP
chr8	30620846	A	UBXN8	R65A9G4,0000,readthrough	SNP
chr9	104162272	A	ZNF189	R99G19A19,0000,missense	SNP
chr9	104170748	A	ZNF189	R99A20G21,0000,missense	SNP