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

c.1150T>C?: p.Trp384Arg: Missense

**c.5535-5538del/ins?: p.Lys1846Asnfs12/Lys1846Glnfs15?: Truncation**

c.1-?_3429+?del: Micro-deletions

**c.4855delA?: p.Met1619Cysfs*6?: Truncation**

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

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

c.1-?_6030+?dup: Others