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