The novel mutations include : eight missense mutations ( c.475G > A , p.G159R ; c.689C > G , p.P230R ; c.1094C > T , p.A365E ; c.1151C > A , p.A384D ; c.1182C > T , p.R428C ; c.1471C > T , p.R491C ; c.2444A > C , p.D815A ; c.2477G > C , p.W826S ) , two nonsense mutations ( c.1475G > A , p.W492X ; c.1627A > T , p.K543X ) , five splice site mutations ( c.855 +1G > C ; c.1092 +1G > A ; c. 1093-1G > T ; c.1239 +1G > A ; c.2380 +1G > A ) , and four deletions ( c.715_717delGTC , p.V239del ; c.304delA , p.N102DfsX4 ; c.1970_2177del , p.V657_G726 ; c.2113_2114delGG , p.G705RfsX16 ) .
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