GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
COL11A2 DFNA13 G323E 970G>A exon31 Dutch (1) McGuirt 1999
    R549C 1647C>T exon42 American (1) McGuirt 1999
             
  Osteochondrodysplasia G175R G>A   Dutch (1) Vikkula 1995
             
             
  Otospondylomegaepiphyseal Dysplasia   732delC exon 5 Turkish (1) Melkoniemi 2000
    R60X 1636C>T exon 17 Dutch (1) Melkoniemi 2000
      IVS22-2A>G   Dutch (1) Melkoniemi 2000
      2406del4ins9 exon 31 Turkish (1) Melkoniemi 2000
    S345X 2492C>A exon 33 Moroccan (1) Melkoniemi 2000
      3032insC exon 41 Finnish (1) Melkoniemi 2000
      IVS53+5G>A   North European (1) Melkoniemi 2000
    R845X 3991C>T exon 55 North European (1) Melkoniemi 2000
    G1098X 4750G>T exon 63 Finnish (1) Melkoniemi 2000
      4821del23 exon 64 Dutch (1) Melkoniemi 2000
             
  Stickler Syndrome, Type III   IVS??+1G>A   Dutch (1) Vikkula 1995
      2775del27 exon 39 N/A (1) Sirko-Osadsa 1998
             
  Weissenbacher-Zweymuller Syndrome G955E G>A exon 59 N/A (1) Pihlajamaa 1998