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

**c.3061G>T?: p.Glu1021*?: Truncation**

c.2044-?_2589+?del: p.Gly682_Leu863del: Micro-deletions

c.4582-3T>C?: Splicing

**c.987-992dup?: p.Leu331Phefs*9: Truncation**

**c.4900_4901delinsTA?: p.Leu1634*: Truncation**

c.4888G>C/T?: p.Val1630Leu: Missense

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