GENE	LOCUS or SYNDROME	AMINO ACID CHANGE	NUCLEOTIDE CHANGE	EXON	ETHNICITY (Number of families)	REFERENCES
COL4A3	Alport Syndrome	M1L	1A>T	exon 1	N/A (1)	Longo 2002
			40del25	exon 1	N/A (1)	Longo 2002
			IVS5-320G>T		La Reunion/French (1); La Reunion/French (4)	Knebelman 1995; Finielz 1998
			389insT	exon 7	European, S. African, Middle Eastern, or S. American for all Heidet	Heidet 2001
		G297E	890G>A	exon 16	See above (1)	Heidet 2001
		R406X	1216C>T	exon 21	See above (1)	Heidet 2001
		G407R	1219G>C	exon 21	See above (1)	Heidet 2001
			IVS21-1G>A		N. Irish (1)	Van der Loop 2000
		G640R	1918G>A	??	See above (1)	Heidet 2001
			2417insC	exon 31	See above (1)	Heidet 2001
			2621delGAinsT	exon 32	See above (1)	Heidet 2001
		R1037X	3109C>T	exon 37	N/A (1)	Longo 2002
		Q1050X	3148C>T	exon 37	See above (1)	Heidet 2001
			3209insA	exon 37	N/A (1)	Longo 2002
			IVS37-1G>T		See above (1)	Heidet 2001
			3321del9	exon 38	N/A (1)	Longo 2002
			3386del27	exon 39	N/A (1)	Longo 2002
		G1167R	3499G>A	exon 40	See above (1)	Heidet 2001
			3533delC	exon 41	See above (1)	Heidet 2001
			IVS41+1delG		See above (1)	Heidet 2001
		G1198S	3592G>A	exon 42	N/A (1)	Longo 2002
		G1207E	3620G>A	exon 42	See above (1)	Heidet 2001
			IVS42-2A>T		See above (1)	Heidet 2001
		G1277S	3829G>A	exon43	See above (1)	Heidet 2001
			IVS44-1G>A		See above (1)	Heidet 2001
		G1334E	4001G>A	exon 45	See above (1)	Heidet 2001
			4279delG	exon 48	See above (1)	Heidet 2001
		1448	4346del7	exon 4?	American? (1)	Ding 1995
		1471	4414delCTTTT	exon 4?	Dutch (1); N/A (1)	Mochizuki 1994; Lemmink 1994
		R1481X	4441C>T	exon 4?	Belgian (1); Belgian (1)	Mochizuki 1994; Lemmink 1994
		L1503X	4508T>G	exon 49	See above (1)	Heidet 2001
			4530delATGT	exon 49	See above (1)	Heidet 2001
		S1524X	4559C>G	exon 4	Belgian (1)	Lemmink 1994
		R1661C	4981C>T	exon 52	See above (1)	Heidet 2001
	Benign Familial Hematuria	G985V		exon 35	Spanish (1)	Badenas 2002
		G1015E		exon 36	Spanish (1)	Badenas 2002