Exons 3 through 7 were deleted, including sequences encoding the translational start site, the pro region, and the entirecatalytic domain of PC7. (J:78623, J:227651)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count