Table 2. Probably pathogenic variants in NPHP-RC patients.

Patient	ESRD (yrs)	Extra-renal manifestations	Gene	Nucleotide change	Amino acid change	1000 genomes	Phylo-P	Mutation Taster	Poly-phen2	SIFT	FATHMM	Ref.
J-6	9.9		NPHP1	c.2029G>C	p.Glu677Gln	-	3.269	DC	PD	D	T
J-12	1.9		INVS/NPHP2	c.721A>T	p.Thr241Ser	-	5.055	DC	PD	D	T
HNF-38	16.7		NPHP3	c.2852G>A	p.Arg951Gln	-	4.573	DC	PD	T	D
J-46	3.1			c.424C>T	p.Arg142*		5.688	DC
J-83	8.4			c.424C>T	p.Arg142*		5.688	DC
J-35	7.4		CEP290/NPHP6	c.5237G>A	p.Arg1746Gln	0.0032	3.28	DC	PoD	T	T
J-79	CKD		GLIS2/NPHP7	c.53G>A	p.Arg18Gln	-	3.183	DC	PD	D	T
J-14	0.6		AHI1/JBTS3	c.3257A>G	p.Glu1086Gly							50
K-8	3.2	ONA,ADHD, AR	BBS4	c.1548_1549del	p.516_517del							51
J-84	5.5	LCA, MR, HF		c.1414A>G	p.Met472Val							35
K-9	5.2			c.1414A>G	p.Met472Val		35					35
J-59	11.8	strabismus, CVA, DD, Sz	MKKS/BBS6	c.416G>A	p.Arg139Gln	0.0018	1.875	DC	PD	T	T
K-10	3	RD, HF	ARL13B/JBTS8	c.259A>G	p.Ile87Val	0.0018	4.762	DC	PD	T
K-11	CKD	Choledochal cyst, HF, Caroli	CC2D2A/JBTS9/MKS6	c.4202C>G	p.Thr1401Ser	0.0041	5.88	DC	PD	T	T
K-12	CKD			c.4238G>A	p.Cys1413Tyr	0.0014	5.725	DC	PD	T	T
J-60	1.2	OMA, ONA, CVA, DD, HF, choledochal cyst	TRIM32/BBS11	c.467T>C	p.Leu156Pro	-	4.635	DC	PD	D	T
J-102	6.5	LCA, MR, brain atrophy, Caroli disease	C5orf42/JBTS17	c.8539G>A	p.Asp2847Asn	-	3.608	DC	PD	T	T
K-6	12.0	RD	PKHD1	c.9629C>G	p.Ser3210Cys	0.0037	2.488	DC	PD	T	D

Abbreviations: AR, aortic regurgitation; ADHD, attention deficit and hyperactivity disorder; CVA, cerebellar vermis aplasia; D, damaging; DC, disease causing; DD, developmental delay; ESRD, end-stage renal disease; HA, hemolytic anemia; HF, hepatic fibrosis; MR, mental retardation; NA, not applicable; NPHP-RC, nephronophthisis-related ciliopathy; NT, not tolerated; OMA, oculomotor apraxia; ONA, optic nerve anomaly; PD, probably damaging; PoD, possibly damaging; RD, retinal dystrophy; SNV, single-nucleotide variation; Sz, seizure; T, tolerated; yrs, years.