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 1992