G26078807A
An intronic splice donor site mutation, between exons 9 and 10 at the end of the PAS-2 domain, results in a truncated protein of 513aa.
An intronic splice site mutation, between exons 9 and 10 at the end of the PAS-2 domain, results in a truncated 513 residue protein (as oppose to 917 residues).
Nucleotide substitution: A?G.