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c.1-?_6030+?del: Whole gene deletion

c.1-?_6030+?del: Whole gene deletion

c.1170+2C>T?: Splicing

c.2177-6delT?: Splicing

**c.937-938?del/ins: p.Asp313fs*?: Truncation**

**c.265-?_383+?del: p.Thr89Ilefs*21: Micro-deletions**

c.384-?_473+?del: p.Leu129_Glu158del: Micro-deletions

c.1-?_6030+?del: Whole gene deletion