GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
COL2A1 Achondrogenesis II G253D G>A exon 19 N/A (1) Korkko 2000
    G253V G>T exon 19 N/A (1) Korkko 2000
    G310D G>A   N/A (1) Bonaventure 1995
    G313S G>A   N/A (1) Mortier 2000
    G517V G>T   N/A (1) Mortier 2000
    G571A G>C exon 33 N/A (1) Mortier 2000
    G571D G>A exon 33 N/A (1) Korkko 2000
    G580R G>A exon 33 N/A (1) Korkko 2000
    G595R G>C exon 34 N/A (1) Korkko 2000
    621 IVS35+4delAGTG   N/A (1) Mortier 2000
    G694E G>A exon 39 N/A (1) Korkko 2000
    G748D G>A exon 40 N/A (1) Korkko 2000
    G769S G>A exon 41 N/A (1) Chan 1995a
    G781S G>A exon 41 N/A (1) Korkko 2000
    G817V G>T exon 42 N/A Cohn 1993
    G865V G>T exon 44 N/A (1) Korkko 2000
    G919R G>A exon 46 N/A (1) Korkko 2000
    T1191N C>A   N/A (1) Mortier 2000
             
  Hypochondrogenesis G574S G>A exon 33 N/A (1) Horton 1992
      IVS34+1G>A   N/A (1) Korkko 2000
    G604A G>C exon 35 N/A (1) Freisinger 1994
    G691R G>C exon 38 N/A (1); N/A (1) Williams 1995; Mortier 1995
    G805S G>A   N/A (1) Bonaventure 1995
    817del6 del 18 exon 44 N/A (1) Korkko 2000
    G853E G>A   N/A (1) Bogaert 1992
    G910C G>T exon 46 N/A (1) Mortier 2000
    G913C G>T exon 46 N/A (1); Australian (1) Fresinger 1996, Mundlos 1996
    G943C G>T exon 46 N/A (1) Mortier 2000
    G943S G>A exon 46 N/A (1) Vissing 1989
    G988R G>C exon 48 N/A (1) Williams 1995
             
  Kniest Dysplasia 102del7 IVS11+35C>T exon 12 American (2) Bogaert 1994
    G103D G>A exon 12 N/A (1) Wilkin 1994
    G127D G>A   N/A (1) Weis 1998
      del28 exon 12 N/A (1) Winterpacht 1993
    del 15 IVS15+1G>A   N/A (1) Fernandes 1998
      del21 exon 16 N/A (1) Wilkin 1999
    141 delGTGA   N/A (1) Wilkin 1999
    226 del18 exon 19 N/A (1) Wilkin 1999
    273 delGTGA   N/A (1) Wilkin 1999
      IVS20-2A>G   N/A (1) Winterpacht 1994
    del18 IVS24+5G>A exon 24 N/A (1) Weis 1998
    1008 del18 exon 49 N/A (1) Winterpacht 1996
             
  Spondylarthopathy G274S G>A     Winterpacht 1994
             
  Spondyloepiphyseal Dysplasia R75C C>T exon 11 Chilean (1); N/A (1) Williams 1993; Bleasel 1995
    G154R G>A exon 15 N/A (1) Vikkula 1993
      IVS20+5G>T   N/A (1) Tiller 1995
    G247S G>A     Ritvaniemi 1994
    G292V G>T   N/A (1) Tiller 1995
    I303I, G304C CG>TT   N/A (1) Tiller 1995
    R519C C>T exon 31 N/A (1); N/A (1); N/A (1); American (3) New Zealand (1), Iceland (1); American (1) Ala-Kokko 1990; Pun 1994; Williams 1995; Bleasel 1998; Mier 2001
    621 delAGTG     Mortier 2000
    G709C G>T   N/A (1) Tiller 1995
    R789C C>T exon 41 N/A (1), N/A (1) Chan 1993, Chan 1995b
    G895S G>A exon 45 N/A (1) Winterpacht 1995
    964del36 del390 exon 48 N/A (1) Lee 1989
    970-984dup15 dup45 exon 48 N/A (1) Tiller 1990
    G973R G>C exom 47 Swiss (1) Sobetzko 2000
    G976S G>A exon 48 N/A (1) Williams 1995
    G997S G>A exom 48 N/A (1) Chan 1991
    T1370M   exon 53 N/A (1) Unger 2001
             
  Stickler Syndrome, Type I   del2 exon 2 N/A (1) Gupta 2002
    R9X C>T exon 7 N/A (1) Ahmad 1993
    W47X 4246G>A exon 2 N/A (1) Richards 2000
    -147 4266insGGAT exon 2 N/A (1) Richards 2000
    -146 4269delGT exon 2 N/A (1) Richards 2000
    48 ins10 exon 4 N/A (1) Brown 1995
    G67D G>A exon 10 N/A (2) Korkko 1993
      IVS12-1G>A   N/A (1) Annunen 1999
    101 697delCG   Swiss (1) Faber 2000
    110 10819delT exon15 N/A (1) Annunen 1999
      IVS17-2A>G   N/A (1) Williams 1996
    241 17189delT   N/A (1) Richards 2000
    403 delA exon 22 N/A (1) Brown 1995
      IVS25+1G>A   N/A (1) Freddi 2000
    R365C C>T exon 26 N/A (2) Richards 2000a
    L467F C>T exon 31 N/A (1) Richards 2000a
    G506X G>T exon 31 N/A (1) Annunen 1999
    592 22620delC exon 34 N/A (1) Annunen 1999
    R585X 22314C>T exon 35 N/A (1) Richards 2000b
    R704C 2503C>T exon 35 South African (1) Ballo 1998
    R732X 25716C>T exon 39 N/A (1), N/A (1) Ahmad 1991, Richards 2000b
      IVS39-1G>T   N/A (1) Annunen 1999
    716 delT exon 40 White (1) Brown 1992
    717 25671insC exon 42 N/A (1) Richards 2000
    731 25715del25 exon 42 N/A (1) Annunen 1999
    737 25734insC exon 42 N/A (1) Richards 2000
    845 delT exon 43 N/A (1) Ritvaniemi 1993
    1110 insG exon 48 N/A (1) Brown 1995
    1007 28829delT exon 49 N/A (1) Annunen 1999
    1118 29616delC exon 50 N/A (1) Annunen 1999
    1125 delC exon 50 N/A (1) Ahmad 1995