GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
COL11A1 Stickler Syndrome, Type II G16del18 IVSA>T del exon N/A (1) Martin 1999
      delA IVS14 N/A (1) Annunen 1999
    G97V G>T exon 19? N/A (1) Richards 1996
    G148R G>C   N/A (1) Annunen 1999
    307del258 del774 exon 31-42? N/A (1) Martin 1999
    G988V G>T   N/A (1) Annunen 1999
    392 del18 exon 36 N/A (1) Annunen 1999
    784 del9 exon 52 N/A (1) Annunen 1999
             
  Marshall Syndrome   IVS38+1G>T   N/A (1) Annunen 1999
      IVS38+2T>C   N/A (1) Annunen 1999
      IVS43-2A>G   N/A (1) Annunen 1999
      IVS47-2A>G   N/A (1) Annunen 1999
      IVS50+1G>A   N/A (1) Griffith 1998
      IVS50+1G>C   N/A (1) Annunen 1999
      IVS50+3A>C   N/A (1) Annunen 1999
      IVS54+1G>A   N/A (1) Annunen 1999
    743 del4 exon 50 N/A (1) Annunen 1999
      insT IVS50 N/A (1) Annunen 1999
      del162 intron 52-53 N/A (1) Annunen 1999