GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
TCOF1 Treacher Collins Q36X C>T exon 1 N/A (1) Edwards 1997
      IVS-1delG   N/A (1) Edwards 1997
    W53R T>C exon 2 N/A (1) Edwards 1997
      274delG exon 3 N/A (1) Edwards 1997
    E93X G>T exon 3 N/A (1) Edwards 1997
      IVS3+5G>C   N/A (2) Edwards 1997
      405delTG exon 5 N/A (1) Gladwin 1996
    H141FS 422insA exon 5 N/A (1) Wise 1997
    N166FS 497delATAC exon 5 N/A (1) Wise 1997
      630delAG exon 6 N/A (1) Gladwin 1996
      724insC exon 7 N/A (1) TCSCG 1996
    Q252X 703C>T exon 7 N/A (1) TCSCG 1996
      1120delG exon 9 N/A (1) Edwards 1997
      1164insT exon 9 Brazil (1) Splendore 2000
      1216insA exon 9 N/A (1) Gladwin 1996
      1287insG exon 10 Brazil (1) Splendore 2000
      1327insA exon 10 N/A (1) TCSCG 1996
      1406delAGAG exon 10 Brazil (1) Splendore 2000
    S470FS 1408delAG exon 10 N/A (1) Wise 1997
      1441insGG exon 10 N/A (1) TCSCG 1996
      1866delAGATAGTG exon 12 Brazil (1) Splendore 2000
      1867delGA exon 12 Brazil (1) Splendore 2000
      1879delGAGAA exon 12 N/A (1) Edwards 1997
      2014insG exon 13 N/A (1) TCSCG 1996
      2018delCAGTCACC exon 13 Brazil (1) Splendore 2000
    K749K IVS14-1G>A   N/A (1); Brazil (1) Gladwin 1996; Splendore 2000
      2297delG exon 15 N/A (1) Edwards 1997
      2354delCAGGGCCAGA exon 15 Brazil (2) Splendore 2000
      2355delAG exon 15 Brazil (1) Splendore 2000
      2386delG exon 15 N/A (1) Edwards 1997
    E796X G>T exon 15 Brazil (1) Splendore 2000
      2399delGTGA exon 15 N/A (1) Edwards 1997
      2442delG exon 16 N/A (1) Edwards 1997
    P830FS 2490delC exon 16 N/A (1) Wise 1997
    T842FS 2526delAG exon 16 N/A (1) Wise 1997
      2527insA exon 16 Brazil (1) Splendore 2000
    K851FS 2552delA, 2561delA exon 16 N/A (1) Wise 1997
    S855FS 2565delAG exon 16 N/A (1) Wise 1997
      2822delGA exon 18 Brazil (1) Splendore 2000
      2998delC exon 19 N/A (1) Edwards 1997
      3086delCACTCCC exon 20 Brazil (1) Splendore 2000
      3100delA exon 20 Brazil (1) Splendore 2000
    Q1041X C>T exon 20 N/A (1) Edwards 1997
      3311delC exon 21 Brazil (1) Splendore 2000
      IVS22+1G>A   N/A (1) Edwards 1997
      3606delAG exon 23 N/A (1) Edwards 1997
      3711delAG exon 23 Brazil (1) Splendore 2000
      3987insG exon 23 Brazil (2) Splendore 2000
      4108delAA exon 23 N/A (1) Edwards 1997
      4130delAAAAA exon 24 N/A (1) Edwards 1997
      4135delGAAAA* exon 24 N/A (7); Brazil (6) Edwards 1997; Splendore 2000
      *16% of all cases