| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| COL4A5 | Alport Syndrome | M1V | 203A>G | exon 1 | Italian (1) | Renieri 1996 |
| G5X | G>T | exon 1 | Mexican (1) | Cruz-Robles 1999 | ||
| Y30X | 292T>G | exon 2 | Finnish (1) | Martin 2000 | ||
| IVS2-1G>A | N/A (1) | Plant 1999 | ||||
| 50 | delGGinsAGGT | ?? | ||||
| 353insA/358insT | exon 3 | European or American (1) | Heiskari 1996 | |||
| G54D | 363G>A | exon 3 | Italian (1) | Turco 1995 | ||
| IVS3-1G>T | American (1) | Barker 2001 | ||||
| IVS3+1G>A | American (1) | Barker 2001 | ||||
| 85FS | 452delG | exon 4 | N/A (1) | Plant 1999 | ||
| IVS4-1G>T | N/A (1) | Plant 1999 | ||||
| 97 | 495delC | exon 5 | Barker 2001 | |||
| IVS5-1G>A | N/A (1) | Plant 1999 | ||||
| IVS6-1G>C | Danish (1) | Hertz 2001 | ||||
| P140FS | delG | exon 7 | German (1) | Gross 2002 | ||
| G129E | 588G>A | exon 7 | N/A (1) | Lemmink 1997 | ||
| G129V | 588G>T | exon 7 | European or American (1); German (1) | Heiskari 1996; Gross 2002 | ||
| E130X | 590G>T | exon 7 | N/A (1) | Plant 1999 | ||
| G114S | 632G>A | exon 7 | N/A (1) | Plant 1999 | ||
| 147 | delC | exon 8 | N/A (1) | Martin 1998 | ||
| 148 | 642delG | exon 8 | Japanese (1) | Inoue 1999 | ||
| 648delG | exon 8 | N/A (1) | Martin 1998 | |||
| IVS8-2A>C | Danish (1) | Hertz 2001 | ||||
| FS | 750insC | exon 10 | Danish (1) | Hertz 2001 | ||
| 184 | 752insC | exon 10 | N/A (1) | Martin 1998 | ||
| G168D | 786G>A | exon 10 | Danish (1) | Hertz 2001 | ||
| G174R | 722G>C | exon 9 | Italian (1) | Renieri 1996 | ||
| G177C | 731G>T* | exon 9 | N/A (1) | Blasi 2000 | ||
| *Dot and Fleck Retinopathy | ||||||
| G177R | 731G>C | exon 9 | Italian (1) | Renieri 1996 | ||
| 177 | 734delC | exon 9 | French (1) | Knebelmann 1996 | ||
| IVS9-1G>A | Danish (1) | Hertz 2001 | ||||
| IVS9+1G>A | French (1) | Knebelmann 1996 | ||||
| 750+3insT | intron 9 | French (1) | Knebelmann 1996 | |||
| G192R | G>A | exon 10 | American (1) | Barker 2001 | ||
| G201V | 804G>T | exon 10 | Danish (1) | Hertz 2001 | ||
| IVS10-2A>T | French (1) | Knebelmann 1996 | ||||
| IVS10+1G>A | Danish (1) | Hertz 2001 | ||||
| 812del19 | exon 11 | Japanese (1) | Inoue 1999 | |||
| G204D | 813G>A | exon 11 | German (1) | Gross 2002 | ||
| G204V | 813G>T | exon 11 | French (1) | Knebelmann 1996 | ||
| P212FS | 836delC | exon 11 | Italian (1) | Renieri 1996 | ||
| IVS11-3C>A | N/A (1) | Boye 1995 | ||||
| G216R | 848G>A | exon 12 | European or American (1); Finnish (1) | Heiskari 1996; Martin 2000 | ||
| G219S | 857G>A | exon 12 | Italian (1) | Renieri 1996 | ||
| IVS12-3C>G | French (1) | Knebelmann 1996 | ||||
| IVS12+1G>A | European or American (1) | Heiskari 1996 | ||||
| G230R | 890G>C | exon 13 | French (1) | Knebelmann 1996 | ||
| 231 | 890delG | exon 13 | French (1) | Knebelmann 1996 | ||
| G239E | 918G>A | exon 13 | French (1) | Knebelmann 1996 | ||
| G254FS | 960delAG | exon 13 | European or American (1); Japanese (1); German (1) | Heiskari 1996; Kawai 1996; Gross 2002 | ||
| G264R | 992G>C | exon 13 | French (1) | Knebelmann 1996 | ||
| 263 | 983delGGGACTT | exon 14 | Japanese (1) | Kaiwa 1996 | ||
| P271FS | del C | exon 14 | German (1) | Gross 2002 | ||
| IVS14+1G>A | French (1) | Knebelmann 1996 | ||||
| E287X | 1061G>T | exon 15 | European or American (1); N/A (1); German (1) | Heiskari 1996; Lemmink 1997; Gross 2002 | ||
| G289V | 1068G>T | exon 15 | N/A (1) | Guo 1995 | ||
| G292R | G>C | exon 15 | American (1) | Barker 2001 | ||
| G292V | 1077G>T | exon 15 | European or American (1); German (1) | Heiskari 1996; Gross 2002 | ||
| 294 | 1086delC | exon 15 | European or American (1) | Heiskari 1996 | ||
| G295D | G>A | exon 15 | American (1) | Barker 2001 | ||
| IVS15-1G>C | European or American (1) | Heiskari 1996 | ||||
| IVS15-2A>G | European or American (1); German (1) | Heiskari 1996; Gross 2002 | ||||
| IVS15+1G>A | French (1) | Knebelmann 1996 | ||||
| G298S | 1094G>A | exon 16 | French (1) | Knebelmann 1996 | ||
| E305X | 1115G>T | exon 16 | N/A (1) | Plant 1999 | ||
| G307D | 1122G>A | exon 16 | German | Gross 2002 | ||
| G316FS | 1147insT | exon 17 | European or American (1); N/A (1) | Heiskari 1996; Martin 1998 | ||
| G325R | 1175G>A | exon 17 | French (1); European or American (1); Italian (1); American (1) | Knebelmann 1992; Heiskari 1996; Renieri 1996; Barker 2000 | ||
| G325E | 1176G>A | exon 17 | Italian (1) | Renieri 1992 | ||
| G325X | 1175G>T | exon 17 | Japanese (1) | Kawai 1996 | ||
| G331V | 1194G>T | exon 18 | N/A (1) | Plant 1999 | ||
| 1234delGTAA | intron 18 | European or American (2); German (1) | Heiskari 1996; Gross 2002 | |||
| 344 | 1234+3delAAGT | intron 18 | French (1) | Knebelmann 1996 | ||
| 355 | 1264insT | exon 19 | American (1) | Barker 2001 | ||
| G359FS | 1274delA | exon 19 | Japanese (1); French (1) | Kawai 1996; Knebelmann 1996 | ||
| 365del3 | 1294delGGGTTGCCT | exon 19 | European or US (1) | Heiskari 1996 | ||
| G365E | 1296G>A | exon 19 | European or US (1) | Heiskari 1996 | ||
| G371E | 1314G>A | exon 19 | Italian (1) | Renieri 1996 | ||
| R373X | 1319C>T | exon 19 | European or American (1); Italian (1); Finnish (1) | Heiskari 1996; Renieri 1996; Martin 2000 | ||
| G374A | 1323G>C | exon 19 | Italian (1) | Renieri 1996 | ||
| G383D | 1350G>A | exon 19 | Japanese (1) | Kawai 1996 | ||
| IVS19+1G>A | Italian (1) | Renieri 1996 | ||||
| IVS19+2T>G | Italian (1) | Renieri 1996 | ||||
| G400E | 1410G>A | exon 20 | N/A (1) | Boye 1995 | ||
| 405 | 1416insA | exon 20 | French (1) | Knebelmann 1996 | ||
| Q407FS | 1419insGGGG | exon 20 | Italian (1) | Renieri 1996 | ||
| G406V | 1419G>A | exon 20 | N/A (1); Italian (1) | Boye 1995; Renieri 1996 | ||
| Q407X | 1422C>T | exon 20 | N/A (1); Danish (1) | Martin 1998; Hertz 2001 | ||
| G409D | 1428G>A | exon 20 | Italian (1) | Renieri 1996 | ||
| G412V | 1437G>T | exon 20 | French (1) | Knebelmann 1996 | ||
| G415R | 1445G>A | exon 20 | Finnish (1) | Martin 2000 | ||
| G420E | 1461G>A | exon 20 | French (1) | Knebelmann 1996 | ||
| G420V | 1461G>T | exon 20 | N/A (1) | Martin 1998 | ||
| 421 | 1466delC | exon 20 | French (1) | Knebelmann 1996 | ||
| G423E | 1470G>A | exon 20 | French (1) | Knebelmann 1996 | ||
| P428FS | 1482insA | exon 20 | Italian (1) | Renieri 1996 | ||
| I444S | 1533T>G | exon 20 | Japanese (1); Japanese (4) | Kawai 1996; Inoue 1999 | ||
| IVS20-2A>G | N/A (1) | Lemmink 1997 | ||||
| I450FS | 1551delAT | exon 21 | N/A (1) | Boye 1995 | ||
| 456del3 | 1567delCCAGGCCCC | exon 21 | Italian (1); N/A (1) | Renieri 1996; Martin 1998 | ||
| 457 | 1573delC | exon 21 | French (1) | Knebelmann 1996 | ||
| 458del3 | 1573del9 | exon 21 | Danish (1) | Hertz 2001 | ||
| G466E | 1599G>A | exon 21 | Japanese (1) | Kawai 1996 | ||
| G472R | 1616G>A | exon 21 | N/A (1); Turkish (1) | Plant 1999; Topaloglu 2000 | ||
| IVS21+1G>A | N/A (1) | Martin 1998 | ||||
| G491E | 1674G>A | exon 22 | French (1) | Knebelmann 1996 | ||
| G494D | 1683G>A | exon 22 | Italian (1) | Renieri 1996 | ||
| 495del12 | 1685del36 | exon 22 | Italian (2) | Renieri 1996 | ||
| G497C | 1691G>T | exon 22 | French (1) | Knebelmann 1996 | ||
| 513 | 1744delAG | exon 23 | N/A (1) | Plant 1999 | ||
| G521C | 1763G>T | exon 23 | Danish (1); Danish (1) | Zhou 1992a; Hertz 2001 | ||
| 521 | 1768delA | exon 23 | Italian (1) | Renieri 1996 | ||
| G524D | 1773G>A | exon 23 | French (1) | Knebelmann 1996 | ||
| 526 | 1783del16 | exon 23 | N/A (1) | Plant 1999 | ||
| 1791+1delG | intron 23 | French (1) | Knebelmann 1996 | |||
| IVS23+1G>A | N/A (1); N/A (1) | Martin 1998; Plant 1999 | ||||
| G545R | 1835G>C | exon 24 | N/A (1) | Plant 1999 | ||
| G545V | 1836G>T | exon 24 | N/A (1) | Plant 1999 | ||
| G558R | G>C | exon 24 | American (1) | Barker 2001 | ||
| G561R | 1883G>A | exon 24 | N/A (1) | Plant 1999 | ||
| G567A | 1902G>C | exon 24 | Italian (1) | Renieri 1996 | ||
| G573D | 1920G>A | exon 24 | N/A (1); Danish (1) | Martin 1998; Hertz 2001 | ||
| G579R | 1937G>A | exon 24 | N/A (1) | Plant 1999 | ||
| G579E | 1938G>A | exon 24 | Japanese (1) | Inoue 1999 | ||
| IVS24+1G>T | Italian (1) | Renieri 1996 | ||||
| G594S | 1982G>A | exon 25 | Danish (4) | Hertz 2001 | ||
| G595R | 1985G>A | exon 25 | Danish (1) | Hertz 2001 | ||
| G603V | G>T | exon 25 | American (1) | Barker 2001 | ||
| G609R | 2027G>C | exon 25 | French (1) | Knebelmann 1996 | ||
| G609V | 2028G>T | exon 25 | Japanese (1); N/A (1) | Kawai 1996; Lemmink 1997 | ||
| P619L | 2058C>T | exon 25 | Danish (1); Spanish (1) | Hertz 2001; Palenzuela 2002 | ||
| G621C | 2063G>T | exon 25 | French (1) | Knebelmann 1996 | ||
| G624D | 2073G>A | exon 25 | American (1) | Martin 1998 | ||
| G626A | 2079G>C | exon 25 | Danish (1) | Hertz 2001 | ||
| G629D | G>A | exon 25 | American (1) | Barker 2001 | ||
| G632D | 2097G>A | exon 25 | French (1) | Knebelmann 1996 | ||
| E633K | 2099G>A | exon 25 | Japanese (1) | Inoue 1999 | ||
| G635D | 2106G>A | exon 25 | N/A (1); N/A (1) | Martin 1998; Plant 1999 | ||
| G638A | 2115G>C | exon 25 | N/A (1) | Boye 1995 | ||
| G638S | 2114G>A | exon 25 | N/A (1) | Plant 1999 | ||
| G638V | 2115G>T | exon 25 | N/A (1) | Boye 1995 | ||
| G653R | 2159G>A | exon 26 | N/A (1) | Boye 1995 | ||
| 652 | 2159delG | exon 26 | French (1) | Knebelmann 1996 | ||
| G669A | 2208G>C | exon 26 | N/A (1) | Plant 1999 | ||
| R673FS | 2220delG | exon 26 | Italian (1) | Renieri 1996 | ||
| IVS26+1G>T | N/A (1) | Martin 1998 | ||||
| G681D | 2244G>A | exon 27 | French (1) | Knebelmann 1996 | ||
| G684X | 2252G>T | exon 27 | N/A (1) | Plant 1999 | ||
| G684V | 2253G>T | exon 27 | Japanese (1) | Kawai 1996 | ||
| G687E | 2262G>A | exon 27 | N/A (1) | Plant 1999 | ||
| IVS27-3C>G | N/A (1) | Martin 1998 | ||||
| IVS27-1G>C | Japanese (1) | Kawai 1996 | ||||
| 717 | 2349delG | exon 28 | N/A (1) | Martin 1998 | ||
| G722E | G>A | exon 28 | American (1) | Barker 2001 | ||
| P739A | 2417C>G | exon 28 | Japanese (1) | Inoue 1999 | ||
| G740E | 2420G>A | exon 28 | Japanese (1) | Kawai 1996 | ||
| G743D | 2430G>A | exon 28 | N/A (1) | Plant 1999 | ||
| IVS28-1G>A | N/A (1) | Martin 1998 | ||||
| G766D | 2499G>A | exon 29 | Danish (1) | Hertz 2001 | ||
| G772D | 2517G>A | exon 29 | Japanese (1) | Kawai 1996 | ||
| FS | 2520insA | exon 29 | Danish (1) | Hertz 2001 | ||
| G776S | 2534G>A | exon 29 | N/A (1) | Plant 1999 | ||
| 782 | 2549delC | exon 29 | N/A (1) | Martin 1998 | ||
| G796R | 2588G>A | exon 29 | N/A (1) | Boye 1995 | ||
| 798 | 2597delT | exon 29 | Italian (1) | Renieri 1996 | ||
| 802del6 | 2606del18 | exon 30 | N/A (1); Danish (1) | Martin 1998; Hertz 2001 | ||
| G802R | 2606G>A | exon 30 | French (1) | Knebelmann 1996 | ||
| G808E | 2625G>A | exon 30 | N/A (1) | Plant 1999 | ||
| G811V | 2634G>T | exon 30 | French (1) | Knebelmann 1996 | ||
| 2636del8ins30 | exon 30 | N/A (1) | Martin 1998 | |||
| FS | 2654delATA/ 2653insT | exon 30 | Danish (1) | Hertz 2001 | ||
| 822delGPP | 2666del9 | exon 30 | N/A (1) | Plant 1999 | ||
| G822R | 2667G>A | exon 30 | Mexcian (1) | Cruz-Robles 1999 | ||
| G852R | 2756G>A | exon 31 | Japanese (1) | Kawai 1996 | ||
| G852E | 2757G>A | exon 31 | N/A (1) | Plant 1999 | ||
| 864del12 | 2791del36 | exon 31 | Finnish (1) | Martin 2000 | ||
| 865del6 | 2797del18 | exon 31 | German (1) | Gross 2002 | ||
| G866E | 2799G>A | exon 31 | Italian (2) | Renieri 1996 | ||
| G869R | 2807G>A | exon 31 | N/A (1); Italian (2); French (1); N/A (2); N/A (5) | Boye 1995; Renieri 1996; Knebelmann 1996; Martin 1998; Plant 1999 | ||
| G872R | 2816G>C | exon 31 | N/A (1) | Boye 1995 | ||
| 876FS | 2825delA | exon 31 | N/A (1) | Boye 1995 | ||
| G878V | 2835G>T | exon 31 | N/A (1) | Plant 1999 | ||
| 880 | 2845delG | exon 31 | American (1) | Barker 2001 | ||
| M898V | A>G | exon 32 | American (1) | Barker 2001 | ||
| 2949del13insAT+dup30 of exon 32 | N/A (1) | Plant 1999 | ||||
| IVS32-22A>G | American (1) | Barker 2001 | ||||
| 935 | 3004insT | exon 33 | N/A (1); N/A (1); Danish (1) | Lemmink 1997; Martin 1998; Hertz 2001 | ||
| G941C | 3023G>T | exon 33 | N/A (1); Danish (1) | Martin 1998; Hertz 2001 | ||
| S942FS | 3025delTAG | exon 33 | ?? | |||
| G947D | 3042G>A | exon 33 | Japanese (1) | Inoue 1999 | ||
| G953V | 3060G>T | exon 33 | French (1); Japanese (1) | Knebelmann 1996; Inoue 1999 | ||
| IVS33-1G>T | French (1) | Knebelmann 1996 | ||||
| IVS33+1G>C | French (1) | Knebelmann 1996 | ||||
| IVS33+1G>T | American (1) | Barker 2001 | ||||
| 971FS | 3131delAG | exon 34 | N/A (1) | Plant 1999 | ||
| G982FS | 3142delA | exon 34 | N/A; Italian (1) | Peissel 1994; Renieri 1996 | ||
| 986 | 3161del18 | exon 34 | N/A (1) | Plant 1999 | ||
| D989FS | 3166delG | exon 34 | N/A (1) | Lemmink 1997 | ||
| IVS34-1G>A | American (1) | Barker 2001 | ||||
| IVS34+1G>T | American (1) | Barker 2001 | ||||
| G1006V | G>T | exon 35 | American (1) | Barker 2001 | ||
| G1015E | 3246G>A | exon 35 | French (1) | Knebelmann 1996 | ||
| G1015V | 3246G>T | exon 35 | French (1) | Knebelmann 1996 | ||
| Q1016X | 3248C>T | exon 35 | French (1) | Knebelmann 1996 | ||
| 1018 | 3258delT | exon 35 | French (1) | Knebelmann 1996 | ||
| G1030S | 3290G>A | exon 35 | N/A (1) | Martin 1998 | ||
| IVS35-2A>G | N/A (1); Danish (1) | Martin 1998; Hertz 2001 | ||||
| G1036V | 3309G>T | exon 36 | French (1) | Knebelmann 1996 | ||
| G1039S | 3317G>A | exon 36 | French (1) | Knebelmann 1996 | ||
| G1045E | 3336G>A | exon 36 | Finnish (1) | Martin 2000 | ||
| G1057X | 3371G>T | exon 36 | French (1) | Knebelmann 1996 | ||
| G1060X | 3380G>T | exon 36 | N/A (1) | Martin 1998 | ||
| Q1061X | 3383C>T | exon 36 | N/A (1) | Plant 1999 | ||
| G1066A | G>C | exon 36 | American (1) | Barker 2001 | ||
| G1066R | 3398G>C | exon 36 | French (1) | Knebelmann 1996 | ||
| G1066S | 3398G>A | exon 36 | N/A (1) | Martin 1998 | ||
| S1071X | 3414C>G | exon 36 | N/A (1); N/A (1); Danish (1) | Lemmink 1997; Martin 1998; Hertz 2001 | ||
| G1086D | 3459G>A | exon 37 | Finnish (1) | Martin 2000 | ||
| K1097X | 3491A>T | exon 37 | N/A (1) | Martin 1998 | ||
| G1104V | 3513G>T | exon 37 | Japanese (1) | Kawai 1996 | ||
| G1107R | 3521G>A | exon 37 | N/A (1); Japanese (1) | Plant 1999; Inoue 1999 | ||
| T1111FS | 3532delA | exon 37 | Italian (1) | Renieri 1996 | ||
| G1113FS | 3539insCCTG | exon 37 | Italian (1) | Renieri 1996 | ||
| IVS37-11C>A | Finnish (1) | Martin 2000 | ||||
| G1143D | 3630G>A | exon 38 | Danish (1); N/A (1); Danish (1) | Zhou 1992b; Martin 1998; Hertz 2001 | ||
| G1143S | 3629G>A | exon 38 | Italian (1) | Renieri 1994b | ||
| IVS38-9A>G | Finnish (1) | Martin 2000 | ||||
| IVS38+1G>C | N/A (1); German (1) | Netzer 1993; Gross 2002 | ||||
| IVS38+1G>T | N/A (1); Danish (2) | Martin 1998; Hertz 2001 | ||||
| G1158R | 3674G>A | exon 39 | Japanese (1) | Inoue 1999 | ||
| FS | 3676delG | exon 39 | Danish (1) | Hertz 2001 | ||
| G1161R | 3683G>A | exon 39 | N/A (1) | Plant 1999 | ||
| G1167S | 3701G>A | exon 39 | Finnish (1) | Martin 2000 | ||
| G1170S | 3710G>A | exon 39 | Japanese (1) | Inoue 1999 | ||
| G1170FS | 3710delG | exon 39 | Italian (1) | Renieri 1994a | ||
| 1175 | 3729delG | exon 39 | N/A (1) | Martin 1998 | ||
| Q1180X | 3740C>T | exon 39 | French (1) | Knebelmann 1996 | ||
| K1181FS | 3745delGGGTGAA | exon 39 | Italian (1) | Renieri 1993 | ||
| G1182R | 3746G>C | exon 39 | Japanese (1) | Kawai 1996 | ||
| IVS39-1G>A | French (1); American (1) | Knebelmann 1996; Barker 2001 | ||||
| IVS39-3C>G | N/A (1); Finnish (1) | Martin 1998; Martin 2000 | ||||
| IVS39-9C>G | N/A (1) | Martin 1998 | ||||
| G1196R | 3788G>A | exon 40 | N/A (1) | Martin 1998 | ||
| IVS40-1G>A | French (1) | Knebelmann 1996 | ||||
| IVS40-2A>T | French (1) | Knebelmann 1996 | ||||
| IVS40-2A>G | German (1) | Gross 2002 | ||||
| IVS40+2T>A | German (1) | Gross 2002 | ||||
| G1205FS | 3813delG | exon 41 | N/A (1) | Lemmink 1994 | ||
| G1205C | 3815G>T | exon 41 | French (1) | Knebelmann 1996 | ||
| D1204FS | 3819delTGGA | exon 41 | Italian (1) | Renieri 1993 | ||
| G1211R | 3833G>C | exon 41 | N/A (1) | Plant 1999 | ||
| G1211E | 3834G>A | exon 41 | French (1) | Knebelmann 1996 | ||
| 1215 | 3848delC | exon 41 | French (1) | Knebelmann 1996 | ||
| 1220del24 | 3859del72 | exon 41 | Danish (1) | Hertz 2001 | ||
| G1220D | 3861G>A | exon 41 | N/A (1) | Plant 1999 | ||
| 1263 | 3892delG | exon 41 | French (1) | Knebelmann 1996 | ||
| 1238FS | 3912insCC | exon 41 | N/A (1) | Plant 1999 | ||
| W1249FS | 3912del52 | exon 41 | Japanese (1) | Kawai 1996 | ||
| G1241C | 3923G>T | exon 41 | N/A (1) | Boye 1995 | ||
| G1244D | G>A | exon 41 | American (1) | Barker 2001 | ||
| G1252S | 3956G>A | exon 41 | French (1) | Knebelmann 1996 | ||
| R1253FS | 3959ins4 | exon 41 | Japanese (1) | Kawai 1996 | ||
| G1255R | 3965G>A | exon 41 | Danish (1) | Hertz 2001 | ||
| G1261E | 3984G>A | exon 41 | N/A (1) | Martin 1998 | ||
| 3992+1delG | intron 41 | French (1) | Knebelmann 1996 | |||
| IVS41-1G>A | N/A (1) | Lemmink 1993 | ||||
| G1270S | 4010G>A | exon 42 | N/A (1); Danish (1) | Lemmink 1997; Hertz 2001 | ||
| P1272FS | 4016delC | exon 42 | Italian (1) | Renieri 1994a | ||
| N1286FS | delATCCAGG | exon 42 | N/A (1) | Guo 1993 | ||
| 1306 | 4122delT | exon 42 | French (1) | Knebelmann 1996 | ||
| IVS42-1G>A | N/A (1) | Plant 1999 | ||||
| IVS42+1G>C | Mexican (1) | Cruz-Robles 1999 | ||||
| F1331FS | 4193delT | exon 43 | Italian (1) | Renieri 1996 | ||
| G1333S | 4199G>A | exon 43 | N/A (1) | Plant 1999 | ||
| IVS43-2A>G | Italian (1) | Renieri 1996 | ||||
| 1350dupPG, G1348E | 4245del6, 4241G>A | exon 44 | Italian (1) | Renieri 1996 | ||
| G1357S | 4271G>A | exon 44 | N/A (1); N/A (1); Danish (2) | Martin 1998; Plant 1999; Hertz 2001 | ||
| IVS44+1G>A | N/A (1) | Plant 1999 | ||||
| 1358 | 4273delT | exon 45 | French (1) | Knebelmann 1996 | ||
| 1368 | 4304delAG | exon 45 | N/A (1) | Plant 1999 | ||
| G1379V | 4338G>T | exon 45 | Italian (1) | Renieri 1996 | ||
| 1388 | 4363insTCCT | exon 45 | Italian (1) | Massella 1994 | ||
| Q1393X | 4379C>T | exon 45 | Japanese (1) | Inoue 1999 | ||
| P1399FS | ins C | exon 45 | German (1) | Gross 2002 | ||
| 4498insC | exon 45 | Lebanese (1) | Ermisch 2000 | |||
| IVS45-1G>A | German (1) | Gross 2002 | ||||
| R1410C | 4430C>T | exon 46 | Italian (1) | Renieri 1996 | ||
| FS | 4455del10/ 4465dup18 | exon 46 | Danish (1) | Hertz 2001 | ||
| G1421W | 4463G>T | exon 46 | Italian (1) | Renieri 1996 | ||
| R1422C | 4467C>T | exon 46 | N/A (1) | Guo 1995 | ||
| G1427V | 4482G>T | exon 46 | N/A (1) | Plant 1999 | ||
| IVS46-1G>C | N/A (1) | Barker 2001 | ||||
| 1439 | 4517dup36 | exon 47 | Italian (1) | Hamalainen 1996 | ||
| G1442D | 4527G>A | exon 47 | N/A (1) | Plant 1999 | ||
| P1449FS | 4546insT | exon 47 | Italian (1) | Renieri 1996 | ||
| G1451S | 4553G>A | exon 47 | N/A (1) | Lemmink 1997 | ||
| G1479FS | 4637delGA | exon 47 | N/A (1); Danish (1) | Hertz 1995; Hertz 2001 | ||
| 1480FS | 4639delA | exon 47 | N/A (1) | Plant 1999 | ||
| G1486A | 4659G>C | exon 47 | N/A (1) | Plant 1999 | ||
| S1488F | 4665C>T | exon 47 | French (1) | Knebelmann 1996 | ||
| A1498D | 4686C>A | exon 47 | N/A (1) | Tverskaya 1996 | ||
| 1496 | 4693delAG | exon 47 | Japanese (1) | Inoue 1999 | ||
| IVS47+1G>C | Japanese (1) | Nakazato 1995 | ||||
| M1516FS | 4749insT | exon 48 | Japanese (1) | Nakazato 1993 | ||
| P1517T | 4751C>A | exon 48 | N/A (1); Italian (1) | Lemmink 1993; Renieri 1996 | ||
| C1521X | 4765C>A | exon 48 | Danish (1) | Hertz 2001 | ||
| W1538S | 4815G>C | exon 48 | N/A (1) | Smeets 1992 | ||
| W1538X | 4816G>A | exon 48 | French (1) | Knebelmann 1996 | ||
| R1563Q | 4890G>A | exon 48 | American (1), Danish (1); N/A (1); Danish (1); German (1) | Zhou 1993; Lemmink 1993; Hertz 2001; Gross 2002 | ||
| R1563X | 4889C>T | exon 48 | American (1); French (1); N/A (1); Japanese (1) | Zhou 1993; Knebelmann 1996; Lemmink 1997; Inoue 1999 | ||
| 4891-3del 32 | exon 49 | Japanese (1) | Kawai 1996 | |||
| IVS48-1G>A | N/A; N/A (1); Japanese (1); French (1) | Zho 1993; Lemmink 1993; Kawai 1996; Knebelmann 1996 | ||||
| C1564S | 4893G>C | exon 49 | American (1) | Zhou 1991 | ||
| C1567R | 4901T>C | exon 49 | French (1) | Knebelmann 1996 | ||
| G1596D | 4989G>A | exon 49 | Italian (1) | Renieri 1996 | ||
| 1583 | 4952delCCCCATT | exon 49 | N/A (1) | Plant 1999 | ||
| Y1597FS | 4992insA | exon 49 | Japanese (1) | Nakazato 1994 | ||
| Y1597C | 4992A>G | exon 49 | German (1) | Gross 2002 | ||
| Y1597X | 4993T>A | exon 49 | N/A (1) | Martin 1998 | ||
| M1601I | 5005G>A | exon 49 | N/A (1) | Boye 1995 | ||
| M1601FS | 5005+1ins10 | intron 49 | N/A (1) | Lemmink 1993 | ||
| IVS49+1G>A | N/A (1); French (1) | Lemmink 1993; Knebelmann 1996 | ||||
| IVS49-1G>C | Japanese (1); Japanese (1) | Nomura 1993; Kawai 1996 | ||||
| G1611FS | 5033delG | exon 50 | Italian (1) | Renieri 1993 | ||
| L1649R | 5148T>G | exon 50 | American (9); N/A (1); American (3) | Barker 1996; Martin 1998; Barker 2001 | ||
| D1656FS | 5170delC | exon 50 | Japanese (1); Japanese (1) | Kitagawa 1995; Inoue 1999 | ||
| IVS50-2A>G | Japanese (1) | Nakazato 1995 | ||||
| IVS50-1G>A | French (1) | Knebelmann 1996 | ||||
| T1665FS | 5196delGAAACGCT | exon 51 | N/A (1) | Boye 1993 | ||
| R1677Q | 5232G>A | exon 51 | Ashkenazi Jewish (3) | Barker 1997 | ||
| R1677P | 5231G>C | exon 51 | N/A (1); American (1) | Plant 1999; Barker 2001 | ||
| R1677X | 5231C>T | exon 51 | N/A (2); N/A (1); Japanese (1); Danish (3); German (1) | Martin 1998; Plant 1999; Inoue 1999; Hertz 2001; Gross 2002 | ||
| C1678R | 5234T>C | exon 51 | German (1) | Gross 2002 | ||
| C1678FS | 5236delT | exon 51 | Finnish (1) | Martin 2000 | ||
| C1678W | 5236T>G | exon 51 | Japanese (1) | Inoue 1999 | ||
| Q1679X | 5237C>T | exon 51 | Japanese (1) | Nakazato 1994 | ||
| C1681Y | 5244G>A | exon 51 | German (1) | Gross 2002 | ||
| del 13.4kb | exon 1 | N/A (1) | Segal 1999 | |||
| *+ exon 1-2 of COL4A6 | ||||||
| del 450 kb | exon 1-6 | N/A (1) | Vetrie 1992 | |||
| del120kb | ex1- ex2 ofCOL4A6 | Caucasian (1) | Mothes 2002 | |||
| 5' to 3' UTR | N/A (1) | Ding 1994 | ||||
| del | Pr-exon 51 | American (1) | Martin 2001 | |||
| dup 35kb | exon 1-14 | N/A (1) | Vetrie 1992 | |||
| del | exon 1-30 | N/A (1) | Plant 1999 | |||
| del | exon 2-8 | N/A (1) | Martin 1998 | |||
| del >500kb | exon 2-51 | N/A (1); German (1) | Plant 1999; Gross 2002 | |||
| del 300kb | exon 2-51 | N/A (1) | Plant 1999 | |||
| del | exon 3-37 | American (1) | Barker 2001 | |||
| del | exon 4-47 | N/A (1) | Ding 1994 | |||
| del | exon 5-10 | American (1) | Barker 1990 | |||
| del ~1.4kb | E24-I25 | N/A (1) | Plant 1999 | |||
| del | exon 26-29 | N/A (1) | Plant 1999 | |||
| del | exon 29-30 | Japanese (1) | Inoue 1999 | |||
| del | exon 29-36 | Japanese (1) | Inoue 1999 | |||
| del | exon 37 | Japanese (1) | Inoue 1999 | |||
| del | exon 37-45 | N/A (1) | Plant 1999 | |||
| del | exon 38-41 | N/A (1) | Plant 1999 | |||
| del | exon 38-51 | German (1) | Gross 2002 | |||
| dup 35kb | exon 38-51 | N/A (1) | Plant 1999 | |||
| del 450 kb | exon 41-51 | N/A (1) | Plant 1999 | |||
| del | exon 43-44 | American (1) | Barker 2001 | |||
| del 5'end | N/A (1) | Antignac 1992 | ||||
| del 5'end | N/A (1) | Antignac 1992 | ||||
| del 5'end | N/A (1) | Antignac 1992 | ||||
| del >38kb 5' | Italian (1) | Renieri 1992 | ||||
| del >40kb | ex1-ex2 ofCOL4A6 | N/A (1) | Segal 1999 | |||
| *+ exon 2 of COL4A6 | ||||||
| del ~10kb | exon 49-51 | Japanese (1) | Saito 1994 | |||
| del 40kb, ins 10-15 kb near 3' end | N/A (1) | Vetrie 1992 | ||||
| del 3' end | N/A (1) | Smeets |