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The 46 pathogenic/likely pathogenic germline mutations in the study cohort. The detection rates were 6.5% (5/77) for CYP21A2 p.Gln319*, 2.6% (2/77) for SPINK1 c.194+2T>C, 2.6% (2/77) for OTOA p.Glu1048*, 2.6% (2/77) for PRAMEF7/8 c.863+1G>T, and 2.6% (2/7) for PRAMEF10/33P c.866+2T>C.
