Table 2.

The mutations in suspected AS patients

Family Code	Chr	Genomic coordinate (GRCh37)	Gene		Accession. Version numbers		Exon		Mutation Type		Nucleotide Change			Protein Change		Characterisic	State	De no	1000G	ExAC_ALL	inhouse		Pathogenic
Family 1	X	107,815,045	COL4A5		‐		E8		missense		c.443C > T			p.Pro148Leu		Hematuria	Het/Hemi	√	0	0.00005854	0		+
Inoue (1999)			COL4A5						Frameshift		c.440del			p.Gly147fs		Heavy proteinuria			0	0	0		+
Martin (1998)			COL4A5								c.446del			p.Gly149fs		ESRD(20)			0	0	0		+
Nagel (2005)			COL4A5								c.446dup			p.Gly150fs		ESRD			0	0	0		+
Family 2	X	107,834,411	COL4A5		NM_000495		E20		missense		c.1289C > A			p.Ala430Asp		ESRD(30)	Hemi	‐	0.00238411	0.0047	0		±
Knebelmann (1996)			COL4A5								Nonconserved X residue					NA							Benign
Family 3	X	107,850,093–107850110	COL4A5		‐		E29		Deletion		c.2366_2383del			p.789_795del		ESRD(20)	Het	√	0	0	0		+
King (2006)			COL4A5						Missense		c.2360G > T			p.Gly787Val		NA			0	0	0		+
Plant (1999)			COL4A5								c.2386G > A			p.Gly796Arg		ESRD(<43), HL			0	0	0		+
Family 4	X	107,869,521	COL4A5		NM_000495		E36		Missense		c.3188G > A			p.Gly1063Asp		Proteinuria, Hematuria	Het	‐	0	0	0		+
Nagel (2005)			COL4A5								C.3188G > T			p.Gly1063Thr		NA			0	0	0		+
Family 5	X	107,930,887	COL4A5		NM_000495		E47		Nossense		c.4473T > A			p.Tyr1491X		Hearing loss Proteinuria, Hematuria, Scr 200mmol/l	Hemi	√	0	0		0	±
Family 6	2	228,121,096	COL4A3		NM_000091		E17		Missense		c.971G > A			p.G324D		Heavy proteinuria (10g/day)	Het	√	0.000199681	0.00002489		0	+
	2	228,172,583 228,172,585		COL4A3		NM_000091		E48		Frameshift	c.4411_4412del		p.S1472Ffs37				Het	√	0	0		0	+
Vega(2003)	2	NA		COL4A3				E1		Deletion	40_63del24				Proteinuria (4.3g/day), Ocular loss		NA		0	0		0	+
	2	NA		COL4A3				E48		Frameshift	4316delC						NA		0	0		0	+
Family 7	2	227,896,696		COL4A4		NM_000092		E40		Missense		c.3782G > A	p.G1261E		Proteinuria (1.28g/day), Hematuria		Het	√	0	0		0	+

*, Their frequency; √, The novel mutations