MacCollin unpublished observations U2. Jacoby unpublished observations U3. Mutations are listed in the format given in references 3 and 4 with some exceptions made for space constraints. In general, the numbering of bases showing alteration is given relative to the cDNA sequence from reference 2 with the initiator ATG beginning at base 1. All coding sequence bases are given in upper case.
Intronic sequence is given in lower case.
Where the start position of deletions or insertions are uncertain, the alternative ranges of bases affected are shown. Frameshift mutation is numbered only in relation to the cDNA sequence and not with respect to effects on the predicted protein product. All mutations are listed by the reference in which they were first reported, even if phenotypic information was reported in subsequent work. Unless otherwise noted, the reference given reports a single instance of the mutation. Mutations listed in green are non-truncating.