GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
CDH23 DFNB12 D124G 371A>G exon 5 European (1) Astuto 2002
    N452S 1355A>G exon 13 European (1) Astuto 2002
    L480Q 1439T>A exon 13 African American (1) Astuto 2002
    R582Q 1745G>A exon 15 Dutch (1) Astuto 2002
    D990N G>A N/A Pakistani (1) Bork 2001
    R1060W 3178C>T exon 26 European (1) Astuto 2002
    G1186D 3557G>A exon 29 African American (1) Astuto 2002
    D1351N (hets)   exon 31 Dutch Kremer MBHD 2001
    A1586P 4756G>C exon 37 Pakistani (1) Astuto 2002
    E1595K 4783G>A exon 37 European (1) Astuto 2002
    D1846N 5536G>A exon 42 European (1) Astuto 2002
    D2045N G>A N/A Pakistani (1) Bork 2001
    D2148N 6442G>A exon 47 N/A (1), German (1) Astuto 2002
    D2202N G>A N/A Pakistani (1) Bork 2001
    R2465W 7393C>T exon 52 European (1) Astuto 2002
    R2608H 7823G>A exon 54 German (1) Astuto 2002
    I2950N T>A N/A Indian (1) Bork 2001
    R2956C C>T N/A Indian (1) Bork 2001
    P3059T C>A N/A Indian (1) Bork 2001
             
  Usher Syndrome, Type 1D Q58X 172C>T exon 3 Swedish (1) Astuto 2002
      193delC exon 3 European (1) Astuto 2002
      336G>C exon 4 German/Swiss (1) Von Brederlow 2002
        Questionable polymorphism  
      IVS4+1G>A exon 4 Swedish (5), N/A (3) Astuto 2002
      1087delG exon 10 Mexican/Native American (1) Astuto 2002
      1112delT exon 10 European (2) Astuto 2002
    A484P 1450G>C exon 14 N/A (1) Astuto 2002
    Q492X C>T N/A Pakistani (1) Bork 2001
      IVS20+1G>A exon 20 Dutch (1), European (1), Spanish (1) Astuto 2002
    T1035T 3105A>C exon 25 European (1) Astuto 2002
    P1206R 3617C>G exon 30 Spanish (1) Astuto 2002
    T1209A 3625A>G exon 30 N/A (1) Astuto 2002
      3840insATGA exon 31 European (1) Astuto 2002
    1281delM 3841del3 N/A German (1) Bolz 2001
      IVS23+1G>A   Pakistani (1) Bork 2001
    R1305X C>T N/A Pakistani (1) Bork 2001
    Q1496H IVS35-1G>C exon 35 Cuban (1); Spanish (1) Bolz 2001; Astuto 2002
    R1502X 4504C>T exon 36 Swedish (4) Astuto 2002
    R1746Q 5237G>A exon 40

Cuban (1); European (2), Irish (1), German (1)

Bolz 2001; Astuto 2002
    Silent 5712G>A exon 42 German/Swiss (1) Von Brederlow 2002
      IVS44+1G>A   Pakistani (1) Bork 2001
      IVS45-9G>A   German/Swiss (2); Dutch (1), Spanish (1), German (1), Pakistani (2) Von Brederlow 2002; Astuto 2002
      6155delC exon 46 European (1) Astuto 2002
    E2103X 6307G>T exon 47 German (1) Astuto 2002
      6933delT N/A German/Swiss (1) Von Brederlow 2002
      6968delC exon 49 European (1) Astuto 2002
      IVS51+5G>A   German (1); German/Swiss (1)

Bolz 2001;Von Brederlow 2002

    S2517G 7549A>G exon 53 N/A (1) Astuto 2002
    E2624E 7872G>A exon 54 N/A (1) Astuto 2002
    G2744S 8230G>A exon 57 Sephardic Jewish (1) Astuto 2002
    R2833G 8497C>G exon 58 Swedish (1) Astuto 2002
    R3175H 9524G>A exon 67 N/A (1) Astuto 2002
      9626insC exon 68 Swedish (1) Astuto 2002