GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
MYO7A DFNA11 886del 9bp del exon 22 Japanese (1) Liu 1997b
             
  DFNB2   IVS3-2A>G   Chinese (1) Liu 1997a
    R244P G>C exon 7 Chinese (1) Liu 1997a
    M599I 1797 G>A exon 15 Tunisian (1) Weil 1997
    V1199insT[FS] 3596insT exon 28 Chinese (1) Liu 1997a
             
  Usher Syndrome, Type 1B L16X T>A exon 3 Danish or German (1) Janecke 1999
    G25R 73C>A exon 3 N/A (1) Levy 1997
    A26E C>A exon 3 Italian (1) Bharadwaj 2000
    C31X C>A exon 3 Swedish (1), Dutch (1); Danish (1) Weston 1996; Janecke 1999
    V67M G>A exon 4 Indian/French (1) Bharadwaj 2000
    75 delG exon 4 Australian (1); Italian (1) Weston 1996; Bharadwaj 2000
    R90P G>C exon 4 Irish/French (1) Bharadwaj 2000
    119 delC exon 5 Dutch (1) Weston 1996
    I134N T>A exon 5 Irish/French (1) Bharadwaj 2000
    R150X 448C>T exon 5 N/A (1), N/A (1) Weil 1995, Levy 1997
    T165M       ??
      IVS5+1G>A   Tunisian (1) Adato 1997
    R212C C>T exon 7 American (2), Dutch (1), Belgian (1) Weston 1995
    R212H G>A exon 7 American (1), Dutch (1)*, Belgian (1)* Weston 1995
      *Same allele as R302H in one Dutch and one Belgian family  
    G214R G>A exon 7 Moroccan (1) Adato 1997
    delD218, I219 652delGACATC exon 7 N/A (1), N/A (2) Weil 1995, Levy 1997
    Q234X 700C>T exon 7 N/A (1), N/A (1) Weil 1995, Levy 1997
    R241S C>A exon 7 Danish or German (1) Janecke 1999
    R241C C>T exon 7 English/Scottish (1), N/A (1) Bharadwaj 2000
    269delK delAAG exon 8 French/Italian (1) Bharadwaj 2000
    R302H G>A exon 9 Dutch (2)*, Swedish (1), Belgain (1)* Weston 1996
      *Same allele as R212H in one Dutch and one Belgian family  
    E314X G>T exon 9 American (1) Weston 1996
    Y333X T>G exon 9 American (1) Weston 1996
    A397D 1190C>A exon 11 Bulgarian/Hungarian (1), Iranian (1); Spanish (1) Adato 1997; Najera 2002
    E450Q G>C exon 13 American (1) Weston 1996
    A457V C>T exon 13 Irish/French (1) Bharadwaj 2000
    468insQ insGCA exon 13 American (2) Weston 1996
    P503L C>T exon 13 American (1) Weston 1996
    G519D G>A exon 14 Native American (1) Bharadwaj 2000
    520 809delC exon 14 N/A (1); British (1) Levy 1997; Liu 1997
      IVS13-8C>G   American (1) Weston 1996
      IVS13-1G>C   Scottish/Irish (1) Bharadwaj 2000
    531 delA exon 14 American (1) Weston 1996
    542insK insC exon 14 Italian (1); Irish/Polish/German (1) Bharadwaj 2000
    C628X 1884C>A exon 16 Spanish (1) Najera 2002
    R634X C>T     ??
    L651P T>C exon 17 British (1) Liu 1998
    R666X C>T exon 17 Danish or German (1) Janecke 1999
    I668X       ??
    R669X C>T     ??
      IVS18+1G>A   Polish/Latvian (1) Adato 1997
    R756Y       ??
    Q821X 2461C>T exon 21 Spanish (3) Najera 2002
    A826T G>A exon 21 Algerian (1), Moroccan (5), Algerian/Moroccan (1) Adato 1997
    G955S 2863G>A exon 22 N/A (1) Levy 1997
    E960X G>T exon 23 Danish or German (1) Janecke 1999
    E968D G>T exon 23 Irish/Swedish (1), Irish/French/Lithuanian (1) Bharadwaj 2000
      IVS24-21G>A   Danish or German (1) Janecke 1999
    K1080X 3238A>T exon 25 Spanish (1); Spanish (1) Cuevas 1999; Najera 2002
    1087, 1089 T>C, delG exon 25 Jewish ??
    E1170K 3508G>A exon 28 Spanish (1); Spanish (2) Cuevas 1999; Najera 2002
      IVS28+2T>A   N/A (1) Levy 1997
    R1240Q G>A exon 29 Danish or German (1); English/French (1) Janecke 1999; Bharadwaj 2000
    A1288P G>C exon 30 Danish or German (1); English (1) Janecke 1999; Bharadwaj 2000
    E1327K 3979C>A exon 31 Spanish (1) Najera 2002
    R1343S G>C exon 31 Danish or German (1) Janecke 1999
    1346delF delTTC exon 31 French/Italian (1) Bharadwaj 2000
    del1347-1351 4039del15 exon 31 Spanish (1) Najera 2002
    T1566M 4698C>T exon 35 Spanish (1) Najera 2002
    R1602Q G>A exon 35 British (1), ?? Liu 1998, Weston 1998
    A1628S G>T exon 36 Danish or German (1) Janecke 1999 (1)
    Y1719C 5156A>G exon 37 Spanish (1); Danish of German (1); Spanish (2) Cuevas 1999; Janecke 1999; Najera 2002
    R1743W C>T exon 38 English (1) Bharadwaj 2000
    Q1798X C>T exon 39 Danish or German (1); English/French (1), German/English (1) Janecke 1999; Bharadwaj 2000
    L1858P T>C exon 40 Canadian (1) Bharadwaj 2000
    R1861X C>T exon 40 Samarian (1) Adato 1997
      IVS40-2G>A exon 41 French/Italian (1) Bharadwaj 2000
    P1887L C>T exon 41 Canadian (1) Bharadwaj 2000
    A2009FS 6025delG exon 44 Spanish (2) Najera 2002
    2018FS delG exon 44 English/Scottish (1), English/Scandinavian (1) Bharadwaj 2000
    2064 delC exon 45 Moroccan (2) Adato 1997
    G2137E 6409G>A exon 46 N/A (1) Levy 1997
      del >2kb exon 47-49 Tunisian (1) Adato 1997
    G2163S G>A exon 48 Danish or German (1) Janecke 1999
    G2187D G>A exon 49 Irish/Swedish (1) Bharadwaj 2000