CRISPR-targeting of exon 4 deleted 16 bp resulting in an out of frame mutation (c.247_262delCGGCACTTGAACTCAG, p.Arg83ThrfsTer67). (J:305454)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count