| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| COL4A4 | Alport Syndrome | FS270 | 1013/6insA | exon13 | European, N. African, Middle Easten or W. Indian for all Boye 1998 (1) | Boye 1998 |
| Hematuria in some hets | ||||||
| 1122del46bp | exon 14-15 | See above (1) | Boye 1998 | |||
| Hematuria in some hets | ||||||
| 1527del18bp | exon 20 | See above (1) | Boye 1998 | |||
| G448S | 1550G>A | exon 20 | N/A (1) | Longo 2002 | ||
| FS601 | 2009delC | exon 24 | See above (1) | Boye 1998 | ||
| G1030V | 3297G>T | exon 33 | See above (1) | Boye 1998 | ||
| Only one mutation found | ||||||
| G1201S | G>A | Berberian/Algerian (1) | Mochizuki 1994 | |||
| FS1217 | 3854/6delG | exon 39 | See above (1) | Boye 1998 | ||
| Hematuria in some hets | ||||||
| S1238X | C>A | Italian (1) | Mochizuki 1994 | |||
| R1377X | 4337C>T | exon 44 | See above (2) | Boye 1998* | ||
| *Found to be heterozygous in Thin Basement Membrane Disease by Buzza 2001 | ||||||
| IVS45-23A>G | exon 46 | See above (1) | Boye 1998 | |||
| P1572L | 4923C>T | exon 47 | See above (1) | Boye 1998 | ||
| Only one mutation found | ||||||
| C1641X | 5131C>A | exon 48 | See above (1) | Boye 1998 | ||
| Alport Syndrome Dominant | L325R | 1183G>T | exon 16 | Sardinia (1) | Ciccarese 2001 | |
| Benign Familial Hematuria | 31del1 | exon 2 | Spanish (2) | Badenas 2002 | ||
| IVS23-1G>C | Spanish (1) | Badenas 2002 | ||||
| G897E | G>A | N/A (1) | Lemmink 1996 | |||
| G957E | 3078G>A | exon 32 | N/A (1) | Ozen 2001 | ||
| G960R | exon 32 | Spanish (1) | Badenas 2002 | |||
| 3222insA | exon 35 | Spanish (1) | Badenas 2002 | |||
| Thin Basement Membrane Disease | R1377X | 4337C>T | exon 44 | N/A (1) | Buzza 2001* | |
| *Found in compound hets in Alport Syndrome by Boye 1998 |