Frameshift deletion of 4:990465 through 4:990472 resulting in the addition of RLRKQNFGQIL after glutamine 72 of all isoforms and premature truncation after these novel amino acids.
Deletion of bases 4:990465..990472 in toy results in a frameshift and early translation termination after the additon of 11 novel amino acids (RLRKQNFGQIL).