Exon 6 was targeted with two TALENs, resulting in a 16 bp deletion (c.1324_1339del16) leading to a frameshift and premature top codon (p.F442Lfs*3). (J:285557)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count