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**c.3936-3939del/dup?: p.Lys1313Glnfs19/p.Lys1313Asnfs6?: Truncation**

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

c.5929A>C?: p.Met1977Leu: Missense

c.2416-?_3429+?del: p.Val806_Glu1143del: Micro-deletions

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

**c.4841-4843?del/ins: p.Ser1615fs*?: Truncation**

c.1378-?_6030+?dup: Micro-duplication

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