CRISPR/Cas9 technology targeting exon 17 at the unique C-terminus inserted 2-bp (TT) between c.1514 and c.1515, resulting in a frameshift (p.S506fs). (J:325310)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count