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

**c.2618G>A?: p.Trp873*: Truncation**

c.2944G>C?: p.Val982Leu: Missense

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

VUS

c.4002+1195_4284+346delinsTATT: Micro-deletions

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

**c.788-792?del/ins: p.Ile264fs*?: Truncation**