GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
GJA1 Recessive Hearing Loss L11F 30C>T exon African American (3) Liu 2001
    V24A 71T>C exon African American (1) Liu 2001
             
  Heart Malformations T326A     N/A (1) Britz-Cunningham 1995
    F335Q     N/A (1) Britz-Cunningham 1995
    S373G A>G   N/A (1) Britz-Cunningham 1995
    E352G A>G   N/A (2) Britz-Cunningham 1995
    S364P T>C   N/A (5) Britz-Cunningham 1995
    S365N G>A   N/A (1) Britz-Cunningham 1995