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