TALEN mediated recombination introduced an 11 bp deletion resulting in a Tyrosine to Glycine mutation at amino acid 401 and a frameshift mutation (p.Tyr401Glnfs*12). (J:199882)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count