Type I (Classical) deficiency: Partial (greater than 30 bp) and whole gene deletions

Deletion

Unique Identifier

Ref

Deletes 2761 bp, including exon 5, from 9060-9104 to 11822-11865*

102

(28)

Deletes 5’-end; breakpoint 480bp upstream from 5’ boundary of exon 3a, 5’ to 5366

103

(30)

New

Deletes 105bp between 7432 and 7536, resulting in deletion of 35 amino acids, K241 to K275. Forms high molecular weigh complex, pleiotropic effect?

104

(13)

Deletes 5’ end, exons 1,2

105

(31)

Removes 3’ end of gene, including exon 6

106

(31)

Removes 3’ end of gene, including exon 6

107

(31)

Uncharacterised

108

(98)

Whole gene deletion

109

(32)

Whole gene deletion

110

(32)

Whole gene deletion

111

(33,  34)

New

Whole gene deletion

112

(97)

New

Whole gene deletion

113

(97)