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c.3521C>G?: p.Thr1174Ser: Missense

c.3430-?_6030+?del: Micro-deletions

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

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

c.3430-?_4002+?dup: Micro-duplication

**c.5435G>A?: p.Trp1812*: Truncation**

c.4853-2A>C?: Splicing

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