Table 1.

Potentially pathogenic variants identified in the patients included in the study

Samples	Potentially Pathogenic Variants	State of Variants	Inheritance	Refs.	Prediction of Pathogenicity of Variants
					In Silico Analysis		AA Conservation among Species
					PolyPhen	PMut	AA Conservation among Species
Patient 1	NPHS2 c.[-52C>G]+[-52C>G]	Homozygous	AR	Oleggini et al.¹⁶
Patient 2	NPHS2 c.[419delG]+[419delG]; p.[Gly140Aspfs41]+[Gly140Aspfs41]	Homozygous	AR	Boute et al.¹⁷
Patient 3	NPHS2 c.[413G>A]+[467_468insT]; p.[Arg138Gln]+[Leu156Phefs*11]	Compound heterozygous	AR	Boute et al.¹⁷; Caridi et al.¹⁸
Patient 4	NPHS2 c.[104insG]+[1143delC]; p.[Gly35Glyfs35]+[Pro381Profs5]	Compound heterozygous	AR	Boute et al.¹⁷; Berdeli et al.¹⁹
Patient 5	NPHS2 c. [771C>T]+[911C>T]; p.[Arg229Gln]+[Ser304Phe]	Compound heterozygous	AR	Tsukaguchi et al.²⁰	Pos dam	Path	++^a
Patient 6	PLCE1 c.[4570_4571delAT]+[2277G>T]; p.[Met1524Alafs*5]+[Arg548Leu]	Compound heterozygous	AR		Prob dam	Path	+++^b
Patient 7	PLCE1 c.[2038C>T]+[4327G>A]; p.[Gln680*]+[Gly1443Arg]	Compound heterozygous	AR		Prob dam	Path	+++^b
Patient 8	ACTN4 c.[782C>A]+[=]; p.[Val261Glu]+[=]	Heterozygous	AD		Prob dam	Path	+++^b
Patient 9	ACTN4 c.[464T>C]+[=]; p.[Ile155Thr]+[=]	Heterozygous	AD		Prob dam	Neu	+++^b
Patient 10	LMX1B c.[833C>T]+[=]; p.[Ala278Val]+[=]	Heterozygous	AD		Prob dam	Path	+++^b

AR, autosomal recessive; AD, autosomal dominant; Pos dam, possibly damaging; Path, pathologic; Prob dam, probably damaging; Neu, neutral; AA, amino acid.
↵a Medium conservation.
↵b High conservation.