Table 2. Genotypes of patients with infantile nephropathic cystinosis.

Patient ID	Mutant alleles NM_001031681.2(CTNS)	Location	Amino acid change	Protein effect	Reference
P1	c.517T>C/c.517T>C	Exon 8	Y173H	aaa change at TM2	This study
P2	c.613G>A/c.613G>A	Exon 9	D205N	aa change at 1st inter-TM loop	(Shotelersuk et al.32)
P3	c.433C>T/c.433C>T	Exon 7	Q145X	Truncated protein at AA145	(Kartamysheva et al.34)
P4	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P5	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P6	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P7	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P8	c.1015G>A/c.1015G>A	Exon 12	G339R	aa change at TM7	(Shotelersuk et al.32)
P9	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P10	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P11	c.681G>A/IVS11-12G>A	Exon 9/Intron 11	E227E/Frameshift	Alternative splicing/Truncated protein	(Aldahmesh et al.26)/(Attard 1999)
P12	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P13	c.1015G>A/c.1015G>A	Exon 12	G339R	aa change at TM7	(Shotelersuk et al.32)
P14	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P15	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P16	c.492_515del/c.492_515del	Exon 8	aa 165-172del	Disruption of PQ loop 1 in TM2	This study
P17	c.613G>A/c.681G>A	Exon 9/Exon 9	D205N/E227E	aa change at 1st inter-TM loop /Alternative splicing	(Shotelersuk et al.32)/(Aldahmesh et al.26)
P18	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)
P19	c.492_515del/c.492_515del	Exon 8	aa 165-172del	Disruption of PQ loop 1 in TM2	This study
P20	c.681G>A/c.681G>A	Exon 9	E227E	Alternative splicing	(Aldahmesh et al.26)

^aAmino acid.