These included missense ( p.T286M ) and nonsense ( p.W111X ) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site ( c.610-2A > G ) .
O O O O B-SequenceVariant O O O O B-SequenceVariant O O O O O O O O B-SequenceVariant O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O