The mutation found in exon 69 (c.C10562A; p.Y3491*) resulting in a premature termination mutation and product degradation by nonsense mediated decay. (J:309102)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count